diff --git a/src/notebooks/babelon_notebook.ipynb b/src/notebooks/babelon_notebook.ipynb index 21f5d60..ecfab93 100644 --- a/src/notebooks/babelon_notebook.ipynb +++ b/src/notebooks/babelon_notebook.ipynb @@ -2,14 +2,14 @@ "cells": [ { "cell_type": "code", - "execution_count": 12, + "execution_count": 13, "metadata": {}, "outputs": [ { "name": "stdout", "output_type": "stream", "text": [ - "oaklib 0.5.8\r\n" + "oaklib 0.6.16\n" ] } ], @@ -19,7 +19,7 @@ }, { "cell_type": "code", - "execution_count": 13, + "execution_count": 14, "metadata": {}, "outputs": [ { @@ -33,13 +33,13 @@ "source": [ "from oaklib import get_adapter\n", "from oaklib.datamodels.vocabulary import IS_A\n", - "adapter = get_adapter('pronto:hp-base.obo')\n", + "adapter = get_adapter('simpleobo:hp-base.obo')\n", "print(adapter.label(\"HP:0000001\"))" ] }, { "cell_type": "code", - "execution_count": 41, + "execution_count": 15, "metadata": {}, "outputs": [], "source": [ @@ -93,184 +93,183289 @@ }, { "cell_type": "code", - "execution_count": 42, + "execution_count": 16, "metadata": {}, "outputs": [ { "name": "stdout", "output_type": "stream", "text": [ + "CT: 18988\n", "\n", "\n", " \n", " \n", - " \n", - " Recurrent infantile hypoglycemia\n", - " definition of HP:0004914 (Recurrent infantile hypoglycemia)\n", + " \n", + " Cold urticaria\n", + " definition of HP:0410135 (Cold urticaria)\n", " \n", - " \n", - " Recurrent episodes of decreased concentration of glucose in the blood occurring during the infantile period.\n", - " definition of HP:0004914 (Recurrent infantile hypoglycemia)\n", + " \n", + " Urticaria may be caused by cold temperatures.\n", + " definition of HP:0410135 (Cold urticaria)\n", " \n", - " \n", - " #Episodic infantile hypoglycemia #Recurrent low blood sugar in infant\n", - " definition of HP:0004914 (Recurrent infantile hypoglycemia)\n", + " \n", + " Short nasal bridge\n", + " definition of HP:0003194 (Short nasal bridge)\n", " \n", - " \n", - " Reactive hypoglycemia\n", - " definition of HP:0012051 (Reactive hypoglycemia)\n", + " \n", + " Decreased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose.\n", + " definition of HP:0003194 (Short nasal bridge)\n", " \n", - " \n", - " Hypoglycermia following a meal (or more generally, after intake of glucose).\n", - " definition of HP:0012051 (Reactive hypoglycemia)\n", + " \n", + " #Decreased length of bridge of nose #Decreased length of nasal bridge #Short bridge of nose #Short nasal bridge\n", + " definition of HP:0003194 (Short nasal bridge)\n", " \n", - " \n", - " #Low blood sugar after a meal #Postprandial hypoglycemia\n", - " definition of HP:0012051 (Reactive hypoglycemia)\n", + " \n", + " Elevated circulating CCL18 level\n", + " definition of HP:0032640 (Elevated circulating CCL18 level)\n", " \n", - " \n", - " Recurrent hypoglycemia\n", - " definition of HP:0001988 (Recurrent hypoglycemia)\n", + " \n", + " An increased concentration of C-C motif chemokine ligand 18 in the blood circulation.\n", + " definition of HP:0032640 (Elevated circulating CCL18 level)\n", " \n", - " \n", - " Recurrent episodes of decreased concentration of glucose in the blood.\n", - " definition of HP:0001988 (Recurrent hypoglycemia)\n", + " \n", + " #Increased C-C motif chemokine ligand 18 concentration\n", + " definition of HP:0032640 (Elevated circulating CCL18 level)\n", " \n", - " \n", - " #hypoglycaemia, recurrent #Recurrent hypoglycaemia #Hypoglycemic episodes #Recurrent hypoglycemic episodes #Recurrent low blood sugar levels #hypoglycemia, recurrent\n", - " definition of HP:0001988 (Recurrent hypoglycemia)\n", + " \n", + " Hypnic headache\n", + " definition of HP:0012459 (Hypnic headache)\n", " \n", - " \n", - " Nonketotic hypoglycemia\n", - " definition of HP:0001958 (Nonketotic hypoglycemia)\n", + " \n", + " A headache disorder that occurs exclusively at night, waking the affected individual from sleep.\n", + " definition of HP:0012459 (Hypnic headache)\n", " \n", - " \n", - " Neonatal hypoglycemia\n", - " definition of HP:0001998 (Neonatal hypoglycemia)\n", + " \n", + " #Alarm clock headache\n", + " definition of HP:0012459 (Hypnic headache)\n", " \n", - " \n", - " #Low blood sugar in newborn\n", - " definition of HP:0001998 (Neonatal hypoglycemia)\n", + " \n", + " Triangular shaped phalanges of the 3rd finger\n", + " definition of HP:0009446 (Triangular shaped phalanges of the 3rd finger)\n", " \n", - " \n", - " Hypoglycemic seizures\n", - " definition of HP:0002173 (Hypoglycemic seizures)\n", + " \n", + " Triangular shaped phalanges of the 3rd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.\n", + " definition of HP:0009446 (Triangular shaped phalanges of the 3rd finger)\n", " \n", - " \n", - " Abnormal blood glucose concentration\n", - " definition of HP:0011015 (Abnormal blood glucose concentration)\n", + " \n", + " #Triangular shaped bone of the middle finger\n", + " definition of HP:0009446 (Triangular shaped phalanges of the 3rd finger)\n", " \n", - " \n", - " An abnormality of the concentration of glucose in the blood.\n", - " definition of HP:0011015 (Abnormal blood glucose concentration)\n", + " \n", + " Abnormal septum pellucidum morphology\n", + " definition of HP:0007375 (Abnormal septum pellucidum morphology)\n", " \n", - " \n", - " #Abnormality of blood glucose concentration\n", - " definition of HP:0011015 (Abnormal blood glucose concentration)\n", + " \n", + " An abnormality of the septum pellucidum, which is a thin, triangular, vertical membrane separating the lateral ventricles of the brain.\n", + " definition of HP:0007375 (Abnormal septum pellucidum morphology)\n", " \n", - " \n", - " Postprandial hyperglycemia\n", - " definition of HP:0011998 (Postprandial hyperglycemia)\n", + " \n", + " #Abnormality of the septum pellucidum\n", + " definition of HP:0007375 (Abnormal septum pellucidum morphology)\n", " \n", - " \n", - " An increased concentration of glucose in the blood following a meal.\n", - " definition of HP:0011998 (Postprandial hyperglycemia)\n", + " \n", + " Abnormality of the ocular adnexa\n", + " definition of HP:0032039 (Abnormality of the ocular adnexa)\n", " \n", - " \n", - " Hypoketotic hypoglycemia\n", - " definition of HP:0001985 (Hypoketotic hypoglycemia)\n", + " \n", + " An anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva.\n", + " definition of HP:0032039 (Abnormality of the ocular adnexa)\n", " \n", - " \n", - " A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies.\n", - " definition of HP:0001985 (Hypoketotic hypoglycemia)\n", + " \n", + " Abnormality of liposaccharide metabolism\n", + " definition of HP:0010968 (Abnormality of liposaccharide metabolism)\n", " \n", - " \n", - " #Hypoglycemia, hypoketotic\n", - " definition of HP:0001985 (Hypoketotic hypoglycemia)\n", + " \n", + " An abnormality of liposaccharide metabolism.\n", + " definition of HP:0010968 (Abnormality of liposaccharide metabolism)\n", " \n", - " \n", - " Ketotic hypoglycemia\n", - " definition of HP:0012734 (Ketotic hypoglycemia)\n", + " \n", + " Steroetypic movements of face and head\n", + " definition of HP:5200017 (Steroetypic movements of face and head)\n", " \n", - " \n", - " Low blood glucose is accompanied by elevated levels of ketone bodies in the body.\n", - " definition of HP:0012734 (Ketotic hypoglycemia)\n", + " \n", + " Abnormal movements of face and head.\n", + " definition of HP:5200017 (Steroetypic movements of face and head)\n", " \n", - " \n", - " #Ketotic low blood sugar\n", - " definition of HP:0012734 (Ketotic hypoglycemia)\n", + " \n", + " Opposable triphalangeal thumb\n", + " definition of HP:0005866 (Opposable triphalangeal thumb)\n", " \n", - " \n", - " Impaired fasting glucose\n", - " definition of HP:0025691 (Impaired fasting glucose)\n", + " \n", + " A form of triphalangeal thumb that can be placed opposite the fingers of the same hand.\n", + " definition of HP:0005866 (Opposable triphalangeal thumb)\n", " \n", - " \n", - " Impaired fasting glucose (IFG) is indicated by a fasting plasma glucose above normal but below the diabetic range. Levels between 110 mg/dl (6.1 mmol/l) to 125 mg/dl (6.9 mmol/l) are diagnostic of IFG.\n", - " definition of HP:0025691 (Impaired fasting glucose)\n", + " \n", + " Acne\n", + " definition of HP:0001061 (Acne)\n", " \n", - " \n", - " Hypoglycemia\n", - " definition of HP:0001943 (Hypoglycemia)\n", + " \n", + " A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts).\n", + " definition of HP:0001061 (Acne)\n", " \n", - " \n", - " A decreased concentration of glucose in the blood.\n", - " definition of HP:0001943 (Hypoglycemia)\n", + " \n", + " #Acne\n", + " definition of HP:0001061 (Acne)\n", " \n", - " \n", - " #Hypoglycaemia #Low blood sugar\n", - " definition of HP:0001943 (Hypoglycemia)\n", + " \n", + " Bilateral trilobed lung\n", + " definition of HP:0011861 (Bilateral trilobed lung)\n", " \n", - " \n", - " Hyperglycemia\n", - " definition of HP:0003074 (Hyperglycemia)\n", + " \n", + " Both lungs have three lobes. Normally, the left lung has two lobes, whereas the right lung has three lobes.\n", + " definition of HP:0011861 (Bilateral trilobed lung)\n", " \n", - " \n", - " An increased concentration of glucose in the blood.\n", - " definition of HP:0003074 (Hyperglycemia)\n", + " \n", + " #Bilateral trilobed lungs\n", + " definition of HP:0011861 (Bilateral trilobed lung)\n", " \n", - " \n", - " #High blood sugar #High blood glucose\n", - " definition of HP:0003074 (Hyperglycemia)\n", + " \n", + " Thyroid dysgenesis\n", + " definition of HP:0008188 (Thyroid dysgenesis)\n", " \n", - " \n", - " Fasting hypoglycemia\n", - " definition of HP:0003162 (Fasting hypoglycemia)\n", + " \n", + " #Thyroid dysplasia\n", + " definition of HP:0008188 (Thyroid dysgenesis)\n", " \n", - " \n", - " #Low blood sugar when fasting\n", - " definition of HP:0003162 (Fasting hypoglycemia)\n", + " \n", + " Neuronal loss in the cerebral cortex\n", + " definition of HP:0007190 (Neuronal loss in the cerebral cortex)\n", " \n", - " \n", - " \n", - "\n", - "\n" - ] - } - ], - "source": [ - "from xml.etree.ElementTree import Element, SubElement, tostring, fromstring\n", - "from xml.dom import minidom\n", - "\n", - "translation_units = list()\n", - "\n", - "for hp in adapter.descendants(\"HP:0011015\", predicates=[IS_A]):\n", - " label = adapter.label(hp)\n", - " definition = adapter.definition(hp)\n", - " alias_map = adapter.entity_alias_map(hp)\n", - " synonyms = [v for p, vl in alias_map.items() if 'oio:hasExactSynonym'==p for v in vl]\n", - " xml = generate_translation_units(hp, label, definition, synonyms)\n", - " translation_units.extend(xml)\n", - "\n", - "xliff = assemble_xliff_file(translation_units)\n", - "print(xliff)" - ] - }, - { - "cell_type": "code", - "execution_count": null, - "metadata": {}, - "outputs": [], - "source": [] + " \n", + " Hyperorality\n", + " definition of HP:0000710 (Hyperorality)\n", + " \n", + " \n", + " Hyperorality is a condition characterized by an excessive preoccupation with oral sensations and behaviors, such as chewing, sucking, biting, swallowing, and excessive mouthing of objects.\n", + " definition of HP:0000710 (Hyperorality)\n", + " \n", + " \n", + " #Hyperoralia #Hyperorality #Mouthing\n", + " definition of HP:0000710 (Hyperorality)\n", + " \n", + " \n", + " Fibrous crescent\n", + " definition of HP:0033319 (Fibrous crescent)\n", + " \n", + " \n", + " A type of glomerular crescent characterized by extracapillary fibrosis composed of greater than 75% matrix and of less than 25% cells with or without fibrin, usually associated with disruption of Bowman's capsule and involving over 10% of the capsular circumference.\n", + " definition of HP:0033319 (Fibrous crescent)\n", + " \n", + " \n", + " Neutropenia in presence of anti-neutropil antibodies\n", + " definition of HP:0001904 (Neutropenia in presence of anti-neutropil antibodies)\n", + " \n", + " \n", + " A type of neutropenia that is observed in the presence of granulocyte-specific antibodies.\n", + " definition of HP:0001904 (Neutropenia in presence of anti-neutropil antibodies)\n", + " \n", + " \n", + " #Autoimmune neutropenia\n", + " definition of HP:0001904 (Neutropenia in presence of anti-neutropil antibodies)\n", + " \n", + " \n", + " Left Isomerism\n", + " definition of HP:0031854 (Left Isomerism)\n", + " \n", + " \n", + " A type of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal left-sided structures.\n", + " definition of HP:0031854 (Left Isomerism)\n", + " \n", + " \n", + " #Left-sided isomerism\n", + " definition of HP:0031854 (Left Isomerism)\n", + " \n", + " \n", + " Nodular inflammatory vasculitis\n", + " definition of HP:0005300 (Nodular inflammatory vasculitis)\n", + " \n", + " \n", + " Abnormal scalp morphology\n", + " definition of HP:0001965 (Abnormal scalp morphology)\n", + " \n", + " \n", + " Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows.\n", + " definition of HP:0001965 (Abnormal scalp morphology)\n", + " \n", + " \n", + " #Abnormality of the scalp #Anomaly of scalp\n", + " definition of HP:0001965 (Abnormal scalp morphology)\n", + " \n", + " \n", + " Increased circulating mannose-binding protein concentration\n", + " definition of HP:0032306 (Increased circulating mannose-binding protein concentration)\n", + " \n", + " \n", + " Concentration of mannose-binding protein in the blood circulation above the upper limit of normal.\n", + " definition of HP:0032306 (Increased circulating mannose-binding protein concentration)\n", + " \n", + " \n", + " #Increased mannose-binding protein level\n", + " definition of HP:0032306 (Increased circulating mannose-binding protein concentration)\n", + " \n", + " \n", + " Abnormal renal arteriole intima/media morphology\n", + " definition of HP:0033892 (Abnormal renal arteriole intima/media morphology)\n", + " \n", + " \n", + " Any structural anomaly located in the inner or middle layer of the arterioles of the kidney.\n", + " definition of HP:0033892 (Abnormal renal arteriole intima/media morphology)\n", + " \n", + " \n", + " Yellow nails\n", + " definition of HP:0011367 (Yellow nails)\n", + " \n", + " \n", + " Yellowish discoloration of the nails.\n", + " definition of HP:0011367 (Yellow nails)\n", + " \n", + " \n", + " #Yellow nails\n", + " definition of HP:0011367 (Yellow nails)\n", + " \n", + " \n", + " Ovarian cyst\n", + " definition of HP:0000138 (Ovarian cyst)\n", + " \n", + " \n", + " The presence of one or more cysts of the ovary.\n", + " definition of HP:0000138 (Ovarian cyst)\n", + " \n", + " \n", + " #Cystic abnormalities of the ovaries #Cystic ovaries #Ovarian cyst #Ovarian cystic abnormality\n", + " definition of HP:0000138 (Ovarian cyst)\n", + " \n", + " \n", + " Anti-HLA-DQ antibody positivity\n", + " definition of HP:6001015 (Anti-HLA-DQ antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen (HLA-DQ). DQ is one of several antigens involved in antibody-mediated rejection of organ transplants.\n", + " definition of HP:6001015 (Anti-HLA-DQ antibody positivity)\n", + " \n", + " \n", + " Conical incisor\n", + " definition of HP:0011065 (Conical incisor)\n", + " \n", + " \n", + " An abnormal conical morphology of the incisor tooth.\n", + " definition of HP:0011065 (Conical incisor)\n", + " \n", + " \n", + " #Cone shaped front tooth #Conoid incisor #Peg shaped incisors #Peg-shaped incisors #Shark tooth incisor\n", + " definition of HP:0011065 (Conical incisor)\n", + " \n", + " \n", + " Congenital bilateral hip dislocation\n", + " definition of HP:0008780 (Congenital bilateral hip dislocation)\n", + " \n", + " \n", + " Posterior communicating artery aneurysm\n", + " definition of HP:0031773 (Posterior communicating artery aneurysm)\n", + " \n", + " \n", + " A widening (ballooning) localized in the wall of the posterior communicating artery.\n", + " definition of HP:0031773 (Posterior communicating artery aneurysm)\n", + " \n", + " \n", + " Failure to elevate lactate upon ischemic exercise test\n", + " definition of HP:6000526 (Failure to elevate lactate upon ischemic exercise test)\n", + " \n", + " \n", + " Failure to elevate lactate in blood washed out from ischemically exercised muscles as assayed by the forearm ischemic exercise test.\n", + " definition of HP:6000526 (Failure to elevate lactate upon ischemic exercise test)\n", + " \n", + " \n", + " Ichthyosis follicularis\n", + " definition of HP:0031291 (Ichthyosis follicularis)\n", + " \n", + " \n", + " Ichthyosis follicularis is characterized by widespread non inflammatory thorn-like follicular projections. Dyskeratotic papules are most pronounced over the extensor extremities and scalp and are symmetrically distributed.\n", + " definition of HP:0031291 (Ichthyosis follicularis)\n", + " \n", + " \n", + " Exposure to birds\n", + " definition of HP:0034981 (Exposure to birds)\n", + " \n", + " \n", + " History of exposure to birds.\n", + " definition of HP:0034981 (Exposure to birds)\n", + " \n", + " \n", + " Verrucae\n", + " definition of HP:0200043 (Verrucae)\n", + " \n", + " \n", + " Warts, benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas.\n", + " definition of HP:0200043 (Verrucae)\n", + " \n", + " \n", + " #Warts\n", + " definition of HP:0200043 (Verrucae)\n", + " \n", + " \n", + " Elevated circulating aspartate aminotransferase concentration\n", + " definition of HP:0031956 (Elevated circulating aspartate aminotransferase concentration)\n", + " \n", + " \n", + " The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal.\n", + " definition of HP:0031956 (Elevated circulating aspartate aminotransferase concentration)\n", + " \n", + " \n", + " #Aspartate aminotransferase increased #Elevated serum aspartate aminotransferase #Elevated serum AST #Elevated serum glutamic oxaloacetic transaminase\n", + " definition of HP:0031956 (Elevated circulating aspartate aminotransferase concentration)\n", + " \n", + " \n", + " Recent honey ingestion\n", + " definition of HP:4000125 (Recent honey ingestion)\n", + " \n", + " \n", + " A history of ingestion of honey in recent weeks.\n", + " definition of HP:4000125 (Recent honey ingestion)\n", + " \n", + " \n", + " #Honey ingestion in recent weeks\n", + " definition of HP:4000125 (Recent honey ingestion)\n", + " \n", + " \n", + " Focal aware seizure\n", + " definition of HP:0002349 (Focal aware seizure)\n", + " \n", + " \n", + " A type of focal-onset seizure in which awareness is preserved. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile.\n", + " definition of HP:0002349 (Focal aware seizure)\n", + " \n", + " \n", + " #Focal aware seizures #Focal seizure with retained awareness #Focal seizure without impairment of awareness #Focal seizure without impairment of consciousness or awareness #Focal seizures without impairment of consciousness or awareness #Partial seizure with retained awareness #Partial seizure without impairment of awareness #Simple partial seizure #Simple partial seizures\n", + " definition of HP:0002349 (Focal aware seizure)\n", + " \n", + " \n", + " Lower limb undergrowth\n", + " definition of HP:0009816 (Lower limb undergrowth)\n", + " \n", + " \n", + " Leg shortening because of underdevelopment of one or more bones of the lower extremity.\n", + " definition of HP:0009816 (Lower limb undergrowth)\n", + " \n", + " \n", + " #Hypoplasia involving bones of the lower limbs #Hypoplasia of the lower limbs #Lower limb undergrowth #Underdeveloped lower limb bones\n", + " definition of HP:0009816 (Lower limb undergrowth)\n", + " \n", + " \n", + " Hypoxemia in cord blood\n", + " definition of HP:0410213 (Hypoxemia in cord blood)\n", + " \n", + " \n", + " An abnormally low level of blood oxygen in the cord blood.\n", + " definition of HP:0410213 (Hypoxemia in cord blood)\n", + " \n", + " \n", + " #Low cord blood oxygen level\n", + " definition of HP:0410213 (Hypoxemia in cord blood)\n", + " \n", + " \n", + " Abnormality of the epiphysis of the distal phalanx of the 4th toe\n", + " definition of HP:0100094 (Abnormality of the epiphysis of the distal phalanx of the 4th toe)\n", + " \n", + " \n", + " #Abnormality of the end part of the outermost bone of the 4th toe\n", + " definition of HP:0100094 (Abnormality of the epiphysis of the distal phalanx of the 4th toe)\n", + " \n", + " \n", + " Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena\n", + " definition of HP:0011159 (Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena)\n", + " \n", + " \n", + " A type of focal autonomic seizure characterized by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature.\n", + " definition of HP:0011159 (Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena)\n", + " \n", + " \n", + " #Abdominal aura #Epigastric aura #Epigastric auras #Localised seizure with epigastric sensation #Localized seizure with epigastric sensation #Partial seizure with epigastric sensation #Visceral aura\n", + " definition of HP:0011159 (Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena)\n", + " \n", + " \n", + " Thyroid cyst\n", + " definition of HP:6000853 (Thyroid cyst)\n", + " \n", + " \n", + " A fluid-filled sac or cavity that develops due to fluid accumulation within the thyroid tissue.\n", + " definition of HP:6000853 (Thyroid cyst)\n", + " \n", + " \n", + " Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal\n", + " definition of HP:0100483 (Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal)\n", + " \n", + " \n", + " #Fused innermost bone of 2nd toe with the 2nd long bone of foot\n", + " definition of HP:0100483 (Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal)\n", + " \n", + " \n", + " Abnormality of the gastrointestinal tract\n", + " definition of HP:0011024 (Abnormality of the gastrointestinal tract)\n", + " \n", + " \n", + " An abnormality of the gastrointestinal tract.\n", + " definition of HP:0011024 (Abnormality of the gastrointestinal tract)\n", + " \n", + " \n", + " #Abnormality of the gastrointestinal tract #Abnormality of the GI tract\n", + " definition of HP:0011024 (Abnormality of the gastrointestinal tract)\n", + " \n", + " \n", + " Typical absence status epilepticus\n", + " definition of HP:0032863 (Typical absence status epilepticus)\n", + " \n", + " \n", + " Typical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged typical absence seizure.\n", + " definition of HP:0032863 (Typical absence status epilepticus)\n", + " \n", + " \n", + " #Simple absence status epilepticus\n", + " definition of HP:0032863 (Typical absence status epilepticus)\n", + " \n", + " \n", + " Symblepharon\n", + " definition of HP:0430007 (Symblepharon)\n", + " \n", + " \n", + " A partial or complete adhesion of the palpebral conjunctiva of the eyelid to the bulbar conjunctiva of the eyeball.\n", + " definition of HP:0430007 (Symblepharon)\n", + " \n", + " \n", + " #Eyelid adhesion to globe of eye #Eyelid stuck to eyeball\n", + " definition of HP:0430007 (Symblepharon)\n", + " \n", + " \n", + " Triangular epiphysis of the distal phalanx of the 5th toe\n", + " definition of HP:0100212 (Triangular epiphysis of the distal phalanx of the 5th toe)\n", + " \n", + " \n", + " #Triangular end part of the outermost bone of the little toe #Triangular end part of the outermost bone of the pinkie toe #Triangular end part of the outermost bone of the pinky toe\n", + " definition of HP:0100212 (Triangular epiphysis of the distal phalanx of the 5th toe)\n", + " \n", + " \n", + " Skewfoot\n", + " definition of HP:0032649 (Skewfoot)\n", + " \n", + " \n", + " A type of flat-foot characterized by hindfoot abductovalgus, metatarsus adductus, and Achilles tendon shortening. The predominant radiographic findings include forefoot adduction with lateral subluxation of the navicular on the talus and heel valgus. Very abnormal shoe wear is noted on the medial side. Calluses occur under the metatarsal heads and the head of the plantar-flexed talus.\n", + " definition of HP:0032649 (Skewfoot)\n", + " \n", + " \n", + " #Skew foot #Skew-foot\n", + " definition of HP:0032649 (Skewfoot)\n", + " \n", + " \n", + " Elevated urinary indoleacetic acid level\n", + " definition of HP:6000332 (Elevated urinary indoleacetic acid level)\n", + " \n", + " \n", + " The amount of indoleacetic acid in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000332 (Elevated urinary indoleacetic acid level)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the proximal phalanges of the hand\n", + " definition of HP:0009851 (Aplasia/Hypoplasia of the proximal phalanges of the hand)\n", + " \n", + " \n", + " #Absent/small innermost finger bones of the hand #Absent/underdeveloped innermost finger bones of the hand\n", + " definition of HP:0009851 (Aplasia/Hypoplasia of the proximal phalanges of the hand)\n", + " \n", + " \n", + " Abdominal ectopia cordis\n", + " definition of HP:0011582 (Abdominal ectopia cordis)\n", + " \n", + " \n", + " Displacement of the heart outside the thoracic cavity and into the abdomen.\n", + " definition of HP:0011582 (Abdominal ectopia cordis)\n", + " \n", + " \n", + " Calvarial skull defect\n", + " definition of HP:0001362 (Calvarial skull defect)\n", + " \n", + " \n", + " A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year.\n", + " definition of HP:0001362 (Calvarial skull defect)\n", + " \n", + " \n", + " #Cranial defect #Skull defect\n", + " definition of HP:0001362 (Calvarial skull defect)\n", + " \n", + " \n", + " Elevated circulating vitamin B12 concentration\n", + " definition of HP:6000016 (Elevated circulating vitamin B12 concentration)\n", + " \n", + " \n", + " Concentration of vitamin B12 in the blood circulation above the upper limit of normal.\n", + " definition of HP:6000016 (Elevated circulating vitamin B12 concentration)\n", + " \n", + " \n", + " #Elevated plasma vitamin B12 level #Elevated serum cobalamin level #Elevated serum vitamin B12 level\n", + " definition of HP:6000016 (Elevated circulating vitamin B12 concentration)\n", + " \n", + " \n", + " Abnormal hyoid bone morphology\n", + " definition of HP:3000052 (Abnormal hyoid bone morphology)\n", + " \n", + " \n", + " Any structural abnormality of the hyoid bone (hyoid), a small U-shaped (horseshoe-shaped) solitary bone, situated in the midline of the neck anteriorly at the base of the mandible and posteriorly at the fourth cervical vertebra.\n", + " definition of HP:3000052 (Abnormal hyoid bone morphology)\n", + " \n", + " \n", + " #Abnormality of hyoid bone\n", + " definition of HP:3000052 (Abnormal hyoid bone morphology)\n", + " \n", + " \n", + " Reversed usual vertebral column curves\n", + " definition of HP:0008433 (Reversed usual vertebral column curves)\n", + " \n", + " \n", + " Cervical hemivertebrae\n", + " definition of HP:0025481 (Cervical hemivertebrae)\n", + " \n", + " \n", + " Absence of one half of the vertebral body in the cervical spine.\n", + " definition of HP:0025481 (Cervical hemivertebrae)\n", + " \n", + " \n", + " Abnormally high-pitched voice\n", + " definition of HP:0001620 (Abnormally high-pitched voice)\n", + " \n", + " \n", + " A persistent (minutes to hours) abnormal increase in the pitch (frequency) of the voice for the context or social situation or significantly different from baseline of the individual.\n", + " definition of HP:0001620 (Abnormally high-pitched voice)\n", + " \n", + " \n", + " #High pitched voice #High-pitched voice\n", + " definition of HP:0001620 (Abnormally high-pitched voice)\n", + " \n", + " \n", + " Increased proportion of central memory CD8-positive, alpha-beta T cells\n", + " definition of HP:0410396 (Increased proportion of central memory CD8-positive, alpha-beta T cells)\n", + " \n", + " \n", + " An increased proportion of central memory CD8-positive, alpha-beta T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.\n", + " definition of HP:0410396 (Increased proportion of central memory CD8-positive, alpha-beta T cells)\n", + " \n", + " \n", + " Absent fifth metatarsal\n", + " definition of HP:0008079 (Absent fifth metatarsal)\n", + " \n", + " \n", + " A developmental abnormality characterized by the absence of the fifth metatarsal bone.\n", + " definition of HP:0008079 (Absent fifth metatarsal)\n", + " \n", + " \n", + " #Absent 5th long bone of foot #Absent 5th metatarsals #Aplasia of the fifth metatarsal bone\n", + " definition of HP:0008079 (Absent fifth metatarsal)\n", + " \n", + " \n", + " Decreased activity of mitochondrial complex I\n", + " definition of HP:0011923 (Decreased activity of mitochondrial complex I)\n", + " \n", + " \n", + " A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria.\n", + " definition of HP:0011923 (Decreased activity of mitochondrial complex I)\n", + " \n", + " \n", + " Dust mite allergy\n", + " definition of HP:0410324 (Dust mite allergy)\n", + " \n", + " \n", + " Hypersensitivity in form of an adverse immune reaction against dust mites.\n", + " definition of HP:0410324 (Dust mite allergy)\n", + " \n", + " \n", + " #Allergy to dust mites #Dust mite allergy #House dust mite allergy #IgE-mediated dust mite allergy #Immunoglobulin E-mediated dust mite allergy\n", + " definition of HP:0410324 (Dust mite allergy)\n", + " \n", + " \n", + " Presacral ganglioneuroma\n", + " definition of HP:0031455 (Presacral ganglioneuroma)\n", + " \n", + " \n", + " A gangioleneuroma originating from sympathetic ganglion cells in the abdomen.\n", + " definition of HP:0031455 (Presacral ganglioneuroma)\n", + " \n", + " \n", + " Punctate vertebral calcifications\n", + " definition of HP:0008420 (Punctate vertebral calcifications)\n", + " \n", + " \n", + " The presence of punctiform calcification of the bone of the vertebral bodies.\n", + " definition of HP:0008420 (Punctate vertebral calcifications)\n", + " \n", + " \n", + " Triggered by an abusive adult\n", + " definition of HP:0033032 (Triggered by an abusive adult)\n", + " \n", + " \n", + " Applies to a sign or symptom that is induced by an abusive adult (usually a parent).\n", + " definition of HP:0033032 (Triggered by an abusive adult)\n", + " \n", + " \n", + " #Munchausen syndrome by proxy\n", + " definition of HP:0033032 (Triggered by an abusive adult)\n", + " \n", + " \n", + " Increased circulating antibody concentration\n", + " definition of HP:0010702 (Increased circulating antibody concentration)\n", + " \n", + " \n", + " An increased level of gamma globulin (immunoglobulin) in the blood.\n", + " definition of HP:0010702 (Increased circulating antibody concentration)\n", + " \n", + " \n", + " #Elevated immunoglobulin levels #Hypergammaglobulinaemia #Hypergammaglobulinemia #Hyperglobulinemia #Increased antibody level in blood #Increased circulating antibody level #Increased gamma globulin #Increased immunoglobulin level #Increased serum gamma globulin #Raised immunoglobulin levels\n", + " definition of HP:0010702 (Increased circulating antibody concentration)\n", + " \n", + " \n", + " Abnormality of eye movement\n", + " definition of HP:0000496 (Abnormality of eye movement)\n", + " \n", + " \n", + " An abnormality in voluntary or involuntary eye movements or their control.\n", + " definition of HP:0000496 (Abnormality of eye movement)\n", + " \n", + " \n", + " #Abnormal extraocular movement #Abnormal extraocular movements #Abnormal eye motility #Abnormal eye movement #Abnormal eye movements #Abnormal motility of the globe of the eye #Abnormal movement of the globe of the eye #Abnormal ocular movements #Abnormality of eye movement #Eye movement abnormalities #Eye movement issue #Ocular movement abnormalities #Oculomotor abnormalities\n", + " definition of HP:0000496 (Abnormality of eye movement)\n", + " \n", + " \n", + " Epiretinal membrane\n", + " definition of HP:0100014 (Epiretinal membrane)\n", + " \n", + " \n", + " An epiretinal membrane is a thin sheet of fibrous tissue that can develop on the surface of the macular area of the retina and cause a disturbance in vision. An epiretinal membrane area can develop on the thin macular area of the retin. An epiretinal membrane is also sometimes called a macular pucker, premacular fibrosis, surface wrinkling retinopathy or cellophane maculopathy.\n", + " definition of HP:0100014 (Epiretinal membrane)\n", + " \n", + " \n", + " #Macular pucker #Premacular fibrosis\n", + " definition of HP:0100014 (Epiretinal membrane)\n", + " \n", + " \n", + " Pinhole visual acuity 2.0 LogMAR\n", + " definition of HP:0030582 (Pinhole visual acuity 2.0 LogMAR)\n", + " \n", + " \n", + " Renal amyloidosis\n", + " definition of HP:0001917 (Renal amyloidosis)\n", + " \n", + " \n", + " A form of amyloidosis that affects the kidney. On hematoxylin and eosin stain, amyloid is identified as extracellular amorphous material that is lightly eosinophilic. These deposits often stain weakly for periodic acid Schiff (PAS), demonstrate a blue-to-gray hue on the trichrome stain and are typically negative on the Jones methenamine silver (JMS) stain. These tinctorial properties contrast with the histologic appearance of collagen, a major component of basement membranes, mesangial matrix and areas of sclerosis, which demonstrates strong positivity for PAS and JMS (See Figure 1 of PMID:25852856).\n", + " definition of HP:0001917 (Renal amyloidosis)\n", + " \n", + " \n", + " Oral melanoacanthoma\n", + " definition of HP:0032452 (Oral melanoacanthoma)\n", + " \n", + " \n", + " Oral melanoacanthoma usually presents as an asymptomatic, ill-defined, rapidly enlarging, macular pigmentation. Although most lesions are heavily pigmented, the coloration may or may not be uniform. Any mucosal site may be affected, but buccal mucosal involvement is most common. Although typically solitary, rare patients may present with multifocal lesions.\n", + " definition of HP:0032452 (Oral melanoacanthoma)\n", + " \n", + " \n", + " Aganglionosis of the small intestine\n", + " definition of HP:0011464 (Aganglionosis of the small intestine)\n", + " \n", + " \n", + " A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the small intestine.\n", + " definition of HP:0011464 (Aganglionosis of the small intestine)\n", + " \n", + " \n", + " Pustular rash\n", + " definition of HP:0033605 (Pustular rash)\n", + " \n", + " \n", + " A rash composed of pustular lesions. A pustule is defined as a vesicle or bulla containing purulent material. It varies in size and may occur at different levels within the epidermis: subcorneal, intraepidermal, or basement membrane zones. The pustules may or may not be sterile and are normally filled with neutrophils.\n", + " definition of HP:0033605 (Pustular rash)\n", + " \n", + " \n", + " Nephrocalcinosis\n", + " definition of HP:0000121 (Nephrocalcinosis)\n", + " \n", + " \n", + " Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.\n", + " definition of HP:0000121 (Nephrocalcinosis)\n", + " \n", + " \n", + " #Too much calcium deposited in kidneys\n", + " definition of HP:0000121 (Nephrocalcinosis)\n", + " \n", + " \n", + " Heat intolerance\n", + " definition of HP:0002046 (Heat intolerance)\n", + " \n", + " \n", + " The inability to maintain a comfortable body temperature in warm or hot weather.\n", + " definition of HP:0002046 (Heat intolerance)\n", + " \n", + " \n", + " #Heat intolerance #Intolerance to heat and fevers\n", + " definition of HP:0002046 (Heat intolerance)\n", + " \n", + " \n", + " Elevated circulating glycolate concentration\n", + " definition of HP:0025641 (Elevated circulating glycolate concentration)\n", + " \n", + " \n", + " The concentration of glycolate in the blood circulation is above the upper limit of normal.\n", + " definition of HP:0025641 (Elevated circulating glycolate concentration)\n", + " \n", + " \n", + " Parietal encephalocele\n", + " definition of HP:0011816 (Parietal encephalocele)\n", + " \n", + " \n", + " An encephalocele located between bregma and lambda.\n", + " definition of HP:0011816 (Parietal encephalocele)\n", + " \n", + " \n", + " Smooth philtrum\n", + " definition of HP:0000319 (Smooth philtrum)\n", + " \n", + " \n", + " Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border.\n", + " definition of HP:0000319 (Smooth philtrum)\n", + " \n", + " \n", + " #Decreased depth of philtrum #Flat philtrum #Indistinct philtrum #Philtrum, smooth #Shallow philtrum #Simple philtrum\n", + " definition of HP:0000319 (Smooth philtrum)\n", + " \n", + " \n", + " Sclerosis of 4th toe phalanx\n", + " definition of HP:0100928 (Sclerosis of 4th toe phalanx)\n", + " \n", + " \n", + " An elevation in bone density in one or more phalanges of the fourth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.\n", + " definition of HP:0100928 (Sclerosis of 4th toe phalanx)\n", + " \n", + " \n", + " #Increased bone density in 4th toe bone #Sclerosis of the phalanges of the 4th toe\n", + " definition of HP:0100928 (Sclerosis of 4th toe phalanx)\n", + " \n", + " \n", + " Short nose\n", + " definition of HP:0003196 (Short nose)\n", + " \n", + " \n", + " Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.\n", + " definition of HP:0003196 (Short nose)\n", + " \n", + " \n", + " #Decreased length of nose #Hypoplastic nose #Nasal hypoplasia #Short nose #Shortened nose\n", + " definition of HP:0003196 (Short nose)\n", + " \n", + " \n", + " Hypercystinemia\n", + " definition of HP:0500151 (Hypercystinemia)\n", + " \n", + " \n", + " An increased amount of cystine in the blood.\n", + " definition of HP:0500151 (Hypercystinemia)\n", + " \n", + " \n", + " #High blood cystine levels #Increased blood cystine concentration\n", + " definition of HP:0500151 (Hypercystinemia)\n", + " \n", + " \n", + " Short chordae tendineae of the tricuspid valve\n", + " definition of HP:0006692 (Short chordae tendineae of the tricuspid valve)\n", + " \n", + " \n", + " Abnormally short chordae tendineae of the tricuspid valve.\n", + " definition of HP:0006692 (Short chordae tendineae of the tricuspid valve)\n", + " \n", + " \n", + " Coprolalia\n", + " definition of HP:0430112 (Coprolalia)\n", + " \n", + " \n", + " Coprolalia denotes the involuntary utterance of obscenities. Intent is an important classifier in coprolalic behaviors, and unfortunately it remains unclear how to objectively distinguish coprolalia from common swearing.\n", + " definition of HP:0430112 (Coprolalia)\n", + " \n", + " \n", + " Reduced OCT-measured foveal thickness\n", + " definition of HP:0030619 (Reduced OCT-measured foveal thickness)\n", + " \n", + " \n", + " Long palpebral fissure\n", + " definition of HP:0000637 (Long palpebral fissure)\n", + " \n", + " \n", + " Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures.\n", + " definition of HP:0000637 (Long palpebral fissure)\n", + " \n", + " \n", + " #Broad opening between the eyelids #Broad palpebral fissure #Long opening between the eyelids #Long palpebral fissures #Wide opening between the eyelids #Wide palpebral fissure #Wide palpebral fissures\n", + " definition of HP:0000637 (Long palpebral fissure)\n", + " \n", + " \n", + " Sclerosis of humeral diaphysis\n", + " definition of HP:0003933 (Sclerosis of humeral diaphysis)\n", + " \n", + " \n", + " #Increased bone density in shaft of long bone in upper arm\n", + " definition of HP:0003933 (Sclerosis of humeral diaphysis)\n", + " \n", + " \n", + " Keloids\n", + " definition of HP:0010562 (Keloids)\n", + " \n", + " \n", + " Doll-like facies\n", + " definition of HP:0000295 (Doll-like facies)\n", + " \n", + " \n", + " A characteristic facial appearance with a round facial form, full cheeks, a short nose, and a relatively small chin.\n", + " definition of HP:0000295 (Doll-like facies)\n", + " \n", + " \n", + " #Doll-like facial appearance\n", + " definition of HP:0000295 (Doll-like facies)\n", + " \n", + " \n", + " Absent pulse\n", + " definition of HP:0032554 (Absent pulse)\n", + " \n", + " \n", + " The pulsation of an artery where the pulse is taken (e.g. the radial artery at the wrist) cannot be detected on physical examination.\n", + " definition of HP:0032554 (Absent pulse)\n", + " \n", + " \n", + " Humeroulnar synostosis\n", + " definition of HP:0003939 (Humeroulnar synostosis)\n", + " \n", + " \n", + " An abnormal osseous union (fusion) between the ulna and the humerus.\n", + " definition of HP:0003939 (Humeroulnar synostosis)\n", + " \n", + " \n", + " #Humeral ulnar synostosis\n", + " definition of HP:0003939 (Humeroulnar synostosis)\n", + " \n", + " \n", + " Abnormal platelet shape\n", + " definition of HP:0012524 (Abnormal platelet shape)\n", + " \n", + " \n", + " A deviation from the normal discoid platelet shape.\n", + " definition of HP:0012524 (Abnormal platelet shape)\n", + " \n", + " \n", + " Anal canal adenocarcinoma\n", + " definition of HP:0030439 (Anal canal adenocarcinoma)\n", + " \n", + " \n", + " An adenoma carcinoma that originates in the anal canal.\n", + " definition of HP:0030439 (Anal canal adenocarcinoma)\n", + " \n", + " \n", + " Overgrowth\n", + " definition of HP:0001548 (Overgrowth)\n", + " \n", + " \n", + " Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.\n", + " definition of HP:0001548 (Overgrowth)\n", + " \n", + " \n", + " #General overgrowth\n", + " definition of HP:0001548 (Overgrowth)\n", + " \n", + " \n", + " Progressive ptosis\n", + " definition of HP:0007838 (Progressive ptosis)\n", + " \n", + " \n", + " A progressive form of ptosis.\n", + " definition of HP:0007838 (Progressive ptosis)\n", + " \n", + " \n", + " #Progressive drooping of upper eyelid\n", + " definition of HP:0007838 (Progressive ptosis)\n", + " \n", + " \n", + " Decreased circulating chylomicron concentration\n", + " definition of HP:0031242 (Decreased circulating chylomicron concentration)\n", + " \n", + " \n", + " Reduced plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins.\n", + " definition of HP:0031242 (Decreased circulating chylomicron concentration)\n", + " \n", + " \n", + " #Decreased circulating chylomicron levels #Hypochylomicronemia\n", + " definition of HP:0031242 (Decreased circulating chylomicron concentration)\n", + " \n", + " \n", + " Avulsion fractured humerus\n", + " definition of HP:0041088 (Avulsion fractured humerus)\n", + " \n", + " \n", + " A fractured in which a fragment of the humerus tears away from the main mass of bone as a result of physical trauma.\n", + " definition of HP:0041088 (Avulsion fractured humerus)\n", + " \n", + " \n", + " Renal tubular epithelial cell casts\n", + " definition of HP:0031198 (Renal tubular epithelial cell casts)\n", + " \n", + " \n", + " A type of cellular urinary cast composed of renal tubular epithelial cells.\n", + " definition of HP:0031198 (Renal tubular epithelial cell casts)\n", + " \n", + " \n", + " Low maternal vitamin B12 concentration\n", + " definition of HP:6000518 (Low maternal vitamin B12 concentration)\n", + " \n", + " \n", + " The concentration of vitamin B12 in the mother's blood during pregnancy is below the lower limit of normal.\n", + " definition of HP:6000518 (Low maternal vitamin B12 concentration)\n", + " \n", + " \n", + " Moderate hypermetropia\n", + " definition of HP:0031729 (Moderate hypermetropia)\n", + " \n", + " \n", + " A form of hypermetropia with more than +2.00 diopters but not more than +5.00 diopters.\n", + " definition of HP:0031729 (Moderate hypermetropia)\n", + " \n", + " \n", + " #Moderate hyperopia\n", + " definition of HP:0031729 (Moderate hypermetropia)\n", + " \n", + " \n", + " Carotid artery calcification\n", + " definition of HP:0031314 (Carotid artery calcification)\n", + " \n", + " \n", + " An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a carotid artery.\n", + " definition of HP:0031314 (Carotid artery calcification)\n", + " \n", + " \n", + " Pseudoepiphysis of the proximal phalanx of the 5th toe\n", + " definition of HP:0100231 (Pseudoepiphysis of the proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the fifth toe.\n", + " definition of HP:0100231 (Pseudoepiphysis of the proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " Postprandial exacerbation\n", + " definition of HP:6000932 (Postprandial exacerbation)\n", + " \n", + " \n", + " Applied to a sign or symptom that is more severe following a meal.\n", + " definition of HP:6000932 (Postprandial exacerbation)\n", + " \n", + " \n", + " Angel-shaped phalanx\n", + " definition of HP:0032078 (Angel-shaped phalanx)\n", + " \n", + " \n", + " A phalangeal malformation that is termed angel-shaped phalanx (ASP), because of its resemblance to the angels used for decoration of Christmas trees. The various components of an angel-shaped phalanx are: diaphyseal cuff (wings), surrounding a meta-diaphyseal core (body), which may appear empty or structured with a cone-shaped epiphysis (skirt) and pseudoepiphysis (head).\n", + " definition of HP:0032078 (Angel-shaped phalanx)\n", + " \n", + " \n", + " Varicocele\n", + " definition of HP:0012871 (Varicocele)\n", + " \n", + " \n", + " A varicocele is a widening of the veins along the spermatic cord, leading to enlarged, twisted veins in the scrotum, and manifested clinically by a painless testicle lump, scrotal swelling, or bulge in the scrotum.\n", + " definition of HP:0012871 (Varicocele)\n", + " \n", + " \n", + " #Vaginal varicocele\n", + " definition of HP:0012871 (Varicocele)\n", + " \n", + " \n", + " Abnormal CSF serine family amino acid concentration\n", + " definition of HP:0500225 (Abnormal CSF serine family amino acid concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of serine-family amino acids in the cerebrospinal fluid.\n", + " definition of HP:0500225 (Abnormal CSF serine family amino acid concentration)\n", + " \n", + " \n", + " #Abnormal serine-family amino acid levels in cerebrospinal fluid\n", + " definition of HP:0500225 (Abnormal CSF serine family amino acid concentration)\n", + " \n", + " \n", + " Triangular shaped proximal phalanges of the hand\n", + " definition of HP:0009858 (Triangular shaped proximal phalanges of the hand)\n", + " \n", + " \n", + " Urethral stricture\n", + " definition of HP:0012227 (Urethral stricture)\n", + " \n", + " \n", + " Narrowing of the urethra associated with inflammation or scar tissue.\n", + " definition of HP:0012227 (Urethral stricture)\n", + " \n", + " \n", + " Dimple chin\n", + " definition of HP:0010751 (Dimple chin)\n", + " \n", + " \n", + " A persistent midline depression of the skin over the fat pad of the chin.\n", + " definition of HP:0010751 (Dimple chin)\n", + " \n", + " \n", + " #Chin butt #Chin dent #Chin dimple #Chin skin dimple #Dimple chin #Gelasin of chin #Indentation of chin\n", + " definition of HP:0010751 (Dimple chin)\n", + " \n", + " \n", + " Late-onset proximal muscle weakness\n", + " definition of HP:0003694 (Late-onset proximal muscle weakness)\n", + " \n", + " \n", + " Lack of strength of the proximal musculature occurring late in the clinical course.\n", + " definition of HP:0003694 (Late-onset proximal muscle weakness)\n", + " \n", + " \n", + " Renal interstitial necrotizing granulomas\n", + " definition of HP:0032642 (Renal interstitial necrotizing granulomas)\n", + " \n", + " \n", + " An organized collection of histiocytes (specifically macrophages) localized in the interstitial tissue of the kidney. Through light microscopy, the activated histiocytes appear as epithelioid cells with round to oval nuclei, often with irregular contours and abundant granular eosinophilic cytoplasm with indistinct cell borders. They may also coalesce to form multinucleated giant cells. Granulomas may be associated with a peripheral cuff of lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined. Granulomas can present as necrotizing or non-necrotizing. Microscopically, necrotizing granulomas distinctly have central necrosis with a palisaded lymphohistiocytic reaction and a cuff of chronic inflammation.\n", + " definition of HP:0032642 (Renal interstitial necrotizing granulomas)\n", + " \n", + " \n", + " #Renal interstitial necrotizing granulomata\n", + " definition of HP:0032642 (Renal interstitial necrotizing granulomas)\n", + " \n", + " \n", + " Partial duplication of the proximal phalanx of the hallux\n", + " definition of HP:0010095 (Partial duplication of the proximal phalanx of the hallux)\n", + " \n", + " \n", + " Partial duplication of the proximal phalanx of big toe.\n", + " definition of HP:0010095 (Partial duplication of the proximal phalanx of the hallux)\n", + " \n", + " \n", + " #Partial duplication of the innermost bone of big toe\n", + " definition of HP:0010095 (Partial duplication of the proximal phalanx of the hallux)\n", + " \n", + " \n", + " Babinski sign\n", + " definition of HP:0003487 (Babinski sign)\n", + " \n", + " \n", + " Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.\n", + " definition of HP:0003487 (Babinski sign)\n", + " \n", + " \n", + " #Extensor plantar reflexes #Extensor plantar response #Extensor plantar responses #Positive Babinski sign\n", + " definition of HP:0003487 (Babinski sign)\n", + " \n", + " \n", + " Abnormal neck morphology\n", + " definition of HP:0025668 (Abnormal neck morphology)\n", + " \n", + " \n", + " Any structural anomaly of the neck region.\n", + " definition of HP:0025668 (Abnormal neck morphology)\n", + " \n", + " \n", + " Abnormal blood cation concentration\n", + " definition of HP:0010929 (Abnormal blood cation concentration)\n", + " \n", + " \n", + " An abnormality of cation homeostasis.\n", + " definition of HP:0010929 (Abnormal blood cation concentration)\n", + " \n", + " \n", + " #Abnormality of cation homeostasis\n", + " definition of HP:0010929 (Abnormal blood cation concentration)\n", + " \n", + " \n", + " Cutaneous finger syndactyly\n", + " definition of HP:0010554 (Cutaneous finger syndactyly)\n", + " \n", + " \n", + " A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers.\n", + " definition of HP:0010554 (Cutaneous finger syndactyly)\n", + " \n", + " \n", + " #Cutaneous syndactyly of fingers #Cutaneous syndactyly of hands #Webbed fingers #Webbed skin of fingers\n", + " definition of HP:0010554 (Cutaneous finger syndactyly)\n", + " \n", + " \n", + " Abnormality of the musculature of the hand\n", + " definition of HP:0001421 (Abnormality of the musculature of the hand)\n", + " \n", + " \n", + " #Abnormal hand muscles\n", + " definition of HP:0001421 (Abnormality of the musculature of the hand)\n", + " \n", + " \n", + " Anti-chlamydia psittaci antibody positivity\n", + " definition of HP:0430057 (Anti-chlamydia psittaci antibody positivity)\n", + " \n", + " \n", + " The presence of antibodies in the blood circulation that react against a component of chlamydia psittaci.\n", + " definition of HP:0430057 (Anti-chlamydia psittaci antibody positivity)\n", + " \n", + " \n", + " Mucoid diarrhea\n", + " definition of HP:0033343 (Mucoid diarrhea)\n", + " \n", + " \n", + " Passage of an increased number of stools containing mucus, a thick fluid substance secreted by mucous membranes.\n", + " definition of HP:0033343 (Mucoid diarrhea)\n", + " \n", + " \n", + " #Mucous diarrhea #Mucous diarrhoea\n", + " definition of HP:0033343 (Mucoid diarrhea)\n", + " \n", + " \n", + " Scleritis\n", + " definition of HP:0100532 (Scleritis)\n", + " \n", + " \n", + " Inflammation of the sclera.\n", + " definition of HP:0100532 (Scleritis)\n", + " \n", + " \n", + " Fetal tachycardia\n", + " definition of HP:6000264 (Fetal tachycardia)\n", + " \n", + " \n", + " The number of beats per minute (bpm) of the fetal heart is above the upper limit of the normal for the gestational age. Fetal tachycardia is thus defined as a heart rate greater than 160-180 bpm.\n", + " definition of HP:6000264 (Fetal tachycardia)\n", + " \n", + " \n", + " Progressive cerebellar ataxia\n", + " definition of HP:0002073 (Progressive cerebellar ataxia)\n", + " \n", + " \n", + " #Cerebellar ataxia, progressive #Progressive ataxia\n", + " definition of HP:0002073 (Progressive cerebellar ataxia)\n", + " \n", + " \n", + " Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine\n", + " definition of HP:0410300 (Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine)\n", + " \n", + " \n", + " The inability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination.\n", + " definition of HP:0410300 (Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine)\n", + " \n", + " \n", + " Abnormal protein O-linked glycosylation\n", + " definition of HP:0012358 (Abnormal protein O-linked glycosylation)\n", + " \n", + " \n", + " An anomaly of protein O-linked glycosylation, i.e., of the process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of a serine or threonine residue.\n", + " definition of HP:0012358 (Abnormal protein O-linked glycosylation)\n", + " \n", + " \n", + " Abnormal CSF alanine concentration\n", + " definition of HP:0500232 (Abnormal CSF alanine concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of alanine in the cerebrospinal fluid.\n", + " definition of HP:0500232 (Abnormal CSF alanine concentration)\n", + " \n", + " \n", + " #Abnormal alanine levels in cerebrospinal fluid\n", + " definition of HP:0500232 (Abnormal CSF alanine concentration)\n", + " \n", + " \n", + " Absent skin pigmentation\n", + " definition of HP:0200098 (Absent skin pigmentation)\n", + " \n", + " \n", + " Lack of skin pigmentation (coloring).\n", + " definition of HP:0200098 (Absent skin pigmentation)\n", + " \n", + " \n", + " #Absent skin pigmentation #Lack of skin coloration\n", + " definition of HP:0200098 (Absent skin pigmentation)\n", + " \n", + " \n", + " Deficit in grammar\n", + " definition of HP:0006977 (Deficit in grammar)\n", + " \n", + " \n", + " Deficit in grammar, including syntax and morphology.\n", + " definition of HP:0006977 (Deficit in grammar)\n", + " \n", + " \n", + " #Grammar-specific speech disorder\n", + " definition of HP:0006977 (Deficit in grammar)\n", + " \n", + " \n", + " Pulmonary vasculitis\n", + " definition of HP:0034705 (Pulmonary vasculitis)\n", + " \n", + " \n", + " Cellular inflammation, vessel destruction, and tissue necrosis of the blood vessels of the lung.\n", + " definition of HP:0034705 (Pulmonary vasculitis)\n", + " \n", + " \n", + " #Lung biopsy: vasculitis\n", + " definition of HP:0034705 (Pulmonary vasculitis)\n", + " \n", + " \n", + " Blue cone monochromacy\n", + " definition of HP:0007939 (Blue cone monochromacy)\n", + " \n", + " \n", + " A form of monochromacy in which vision is derived from the remaining preserved blue (S) cones and rod photoreceptors.\n", + " definition of HP:0007939 (Blue cone monochromacy)\n", + " \n", + " \n", + " #Blue cone monochromatism #Incomplete achromatopsia #S-cone monochromacy\n", + " definition of HP:0007939 (Blue cone monochromacy)\n", + " \n", + " \n", + " Eyelid apraxia\n", + " definition of HP:0000658 (Eyelid apraxia)\n", + " \n", + " \n", + " #Difficulty opening the eyelids\n", + " definition of HP:0000658 (Eyelid apraxia)\n", + " \n", + " \n", + " High-pitched cry\n", + " definition of HP:0025430 (High-pitched cry)\n", + " \n", + " \n", + " A type of crying in an abnormally high-pitched voice.\n", + " definition of HP:0025430 (High-pitched cry)\n", + " \n", + " \n", + " Abnormality of the epiphyses of the 2nd toe\n", + " definition of HP:0010323 (Abnormality of the epiphyses of the 2nd toe)\n", + " \n", + " \n", + " #Abnormality of the end part of the 2nd toe bone\n", + " definition of HP:0010323 (Abnormality of the epiphyses of the 2nd toe)\n", + " \n", + " \n", + " Anti-AK5 antibody positivity\n", + " definition of HP:5000000 (Anti-AK5 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-adenylate kinase 5 (AK5).\n", + " definition of HP:5000000 (Anti-AK5 antibody positivity)\n", + " \n", + " \n", + " Bimanual synkinesia\n", + " definition of HP:0001335 (Bimanual synkinesia)\n", + " \n", + " \n", + " Involuntary movements of one hand that accompany and mirror intentional movements of the opposite hand.\n", + " definition of HP:0001335 (Bimanual synkinesia)\n", + " \n", + " \n", + " #Hand mirror movements #Mirror hand movements #Mirror movements\n", + " definition of HP:0001335 (Bimanual synkinesia)\n", + " \n", + " \n", + " Aplasia of the olfactory tract\n", + " definition of HP:0020128 (Aplasia of the olfactory tract)\n", + " \n", + " \n", + " Aplasia (congenital absence) of the olfactory tract, which causes anosmia, a complete loss of the sense of smell.\n", + " definition of HP:0020128 (Aplasia of the olfactory tract)\n", + " \n", + " \n", + " Melanocytic nevus\n", + " definition of HP:0000995 (Melanocytic nevus)\n", + " \n", + " \n", + " A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger.\n", + " definition of HP:0000995 (Melanocytic nevus)\n", + " \n", + " \n", + " #Beauty mark #Melanocytic naevus #Melanocytic nevi #Nevocellular nevi #Pigmented naevi #Pigmented nevi\n", + " definition of HP:0000995 (Melanocytic nevus)\n", + " \n", + " \n", + " Abnormal common tendinous ring morphology\n", + " definition of HP:0030671 (Abnormal common tendinous ring morphology)\n", + " \n", + " \n", + " Any anomaly of the ring of fibrous tissue that surrounds the optic nerve at its entrance at the apex of the orbit. The common tendinous ring, also known as the annulus of Zinn or annular tendon, is the origin for five of the seven extraocular muscles.\n", + " definition of HP:0030671 (Abnormal common tendinous ring morphology)\n", + " \n", + " \n", + " #Abnormality of the common tendinous ring\n", + " definition of HP:0030671 (Abnormal common tendinous ring morphology)\n", + " \n", + " \n", + " 3-hydroxydicarboxylic aciduria\n", + " definition of HP:0008160 (3-hydroxydicarboxylic aciduria)\n", + " \n", + " \n", + " The concentration of 2-hydroxydicarboxylic acid in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:0008160 (3-hydroxydicarboxylic aciduria)\n", + " \n", + " \n", + " Aplasia of the 4th metacarpal\n", + " definition of HP:0010043 (Aplasia of the 4th metacarpal)\n", + " \n", + " \n", + " Absence of the fourth long bone of the hand.\n", + " definition of HP:0010043 (Aplasia of the 4th metacarpal)\n", + " \n", + " \n", + " #Absent 4th long bone of hand\n", + " definition of HP:0010043 (Aplasia of the 4th metacarpal)\n", + " \n", + " \n", + " Diffuse demyelination of the cerebral white matter\n", + " definition of HP:0007162 (Diffuse demyelination of the cerebral white matter)\n", + " \n", + " \n", + " A diffuse loss of myelin from nerve fibers in the central nervous system.\n", + " definition of HP:0007162 (Diffuse demyelination of the cerebral white matter)\n", + " \n", + " \n", + " EEG with focal spike waves\n", + " definition of HP:0011197 (EEG with focal spike waves)\n", + " \n", + " \n", + " EEG with focal sharp transient waves of a duration less than 80 msec followed by a slow wave.\n", + " definition of HP:0011197 (EEG with focal spike waves)\n", + " \n", + " \n", + " Pericentral retinitis pigmentosa\n", + " definition of HP:0007947 (Pericentral retinitis pigmentosa)\n", + " \n", + " \n", + " A subtype of retinitis pigmentosa in which, instead of the pathology starting in the mid-periphery like typical retinitis pigmentosa, the disease starts in the near periphery closer to the vascular arcades and tends to spare the far periphery.\n", + " definition of HP:0007947 (Pericentral retinitis pigmentosa)\n", + " \n", + " \n", + " Transient unilateral blurring of vision\n", + " definition of HP:0001125 (Transient unilateral blurring of vision)\n", + " \n", + " \n", + " Transient blurring of vision associated with the aura phase of migraine.\n", + " definition of HP:0001125 (Transient unilateral blurring of vision)\n", + " \n", + " \n", + " #Hemianoptic blurring of vision #Transient unilateral blurred vision\n", + " definition of HP:0001125 (Transient unilateral blurring of vision)\n", + " \n", + " \n", + " Loss of facial expression\n", + " definition of HP:0005327 (Loss of facial expression)\n", + " \n", + " \n", + " #Loss of facial expression\n", + " definition of HP:0005327 (Loss of facial expression)\n", + " \n", + " \n", + " Gustatory sweating\n", + " definition of HP:0025277 (Gustatory sweating)\n", + " \n", + " \n", + " Hyperhidrosis that occurs with gustatory stimulation (e.g., moisture on face from sweating that occurs after eating).\n", + " definition of HP:0025277 (Gustatory sweating)\n", + " \n", + " \n", + " Fragmentation of the epiphysis of the middle phalanx of the 5th finger\n", + " definition of HP:0009207 (Fragmentation of the epiphysis of the middle phalanx of the 5th finger)\n", + " \n", + " \n", + " Fragmented appearance of the epiphysis of the middle phalanx of the 5th finger.\n", + " definition of HP:0009207 (Fragmentation of the epiphysis of the middle phalanx of the 5th finger)\n", + " \n", + " \n", + " #Fragmentation of end part of the middle bone of the little finger #Fragmentation of end part of the middle bone of the pinkie finger #Fragmentation of end part of the middle bone of the pinky finger\n", + " definition of HP:0009207 (Fragmentation of the epiphysis of the middle phalanx of the 5th finger)\n", + " \n", + " \n", + " Abnormal calf musculature morphology\n", + " definition of HP:0001430 (Abnormal calf musculature morphology)\n", + " \n", + " \n", + " #Abnormal calf muscles #Abnormality of calf musculature\n", + " definition of HP:0001430 (Abnormal calf musculature morphology)\n", + " \n", + " \n", + " Hypoplastic ischia\n", + " definition of HP:0003175 (Hypoplastic ischia)\n", + " \n", + " \n", + " Underdevelopment of the ischium, which forms the lower and back part of the hip bone.\n", + " definition of HP:0003175 (Hypoplastic ischia)\n", + " \n", + " \n", + " #Hypoplastic ischial bones #Hypoplastic ischii #Hypoplastic ischium\n", + " definition of HP:0003175 (Hypoplastic ischia)\n", + " \n", + " \n", + " Elevated circulating 4-methyl-2-oxopentanoic acid concentration\n", + " definition of HP:0033437 (Elevated circulating 4-methyl-2-oxopentanoic acid concentration)\n", + " \n", + " \n", + " The concentration of 4-methyl-2-oxopentanoic acid in the blood circulation is above the upper limit of normal.\n", + " definition of HP:0033437 (Elevated circulating 4-methyl-2-oxopentanoic acid concentration)\n", + " \n", + " \n", + " #Increased circulating alpha-ketoisocaproic acid concentration\n", + " definition of HP:0033437 (Elevated circulating 4-methyl-2-oxopentanoic acid concentration)\n", + " \n", + " \n", + " Reduced tissue delta-1-pyrroline-5-carboxylate dehydrogenase activity\n", + " definition of HP:6000695 (Reduced tissue delta-1-pyrroline-5-carboxylate dehydrogenase activity)\n", + " \n", + " \n", + " Concentration or activity of delta-1-pyrroline-5-carboxylate dehydrogenase (P5CDH; EC 1.5.1.12) below the lower limit of normal. P5CDH can be measured in multiple tissues including leukocytes and cultured fibroblasts. P5CDH is a mitochondrial matrix NAD(+)-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate.\n", + " definition of HP:6000695 (Reduced tissue delta-1-pyrroline-5-carboxylate dehydrogenase activity)\n", + " \n", + " \n", + " Abnormal chorioretinal morphology\n", + " definition of HP:0000532 (Abnormal chorioretinal morphology)\n", + " \n", + " \n", + " An abnormality of the choroid and retina.\n", + " definition of HP:0000532 (Abnormal chorioretinal morphology)\n", + " \n", + " \n", + " #Chorioretinal abnormality\n", + " definition of HP:0000532 (Abnormal chorioretinal morphology)\n", + " \n", + " \n", + " Increased proportion of gamma-delta T cells\n", + " definition of HP:0500270 (Increased proportion of gamma-delta T cells)\n", + " \n", + " \n", + " Increased proportion of gamma-delta T cells relative to the total number of T cells.\n", + " definition of HP:0500270 (Increased proportion of gamma-delta T cells)\n", + " \n", + " \n", + " #Elevated proportion of gamma-delta T cells #Increased proportion of gamma-delta T lymphocytes #Increased proportion of gamma-delta T-cells #Increased proportion of gamma-delta T-lymphocytes #Increased proportion of gammadelta T cells\n", + " definition of HP:0500270 (Increased proportion of gamma-delta T cells)\n", + " \n", + " \n", + " Disproportionate tall stature\n", + " definition of HP:0001519 (Disproportionate tall stature)\n", + " \n", + " \n", + " A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim.\n", + " definition of HP:0001519 (Disproportionate tall stature)\n", + " \n", + " \n", + " #Dolichostenomelia #Marfanoid body habitus #Marfanoid habitus #Reduced upper-lower segment ratio\n", + " definition of HP:0001519 (Disproportionate tall stature)\n", + " \n", + " \n", + " Lymphangioma\n", + " definition of HP:0100764 (Lymphangioma)\n", + " \n", + " \n", + " Lymphangiomas are rare congenital malformations consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures. Lymphangioma is usually asymptomatic due to its soft consistency but compression of adjacent structures can be seen due to the mass effect of a large tumor.\n", + " definition of HP:0100764 (Lymphangioma)\n", + " \n", + " \n", + " Irregular epiphysis of the proximal phalanx of the hallux\n", + " definition of HP:0010132 (Irregular epiphysis of the proximal phalanx of the hallux)\n", + " \n", + " \n", + " #Irregular end part of the innermost bone of the big toe\n", + " definition of HP:0010132 (Irregular epiphysis of the proximal phalanx of the hallux)\n", + " \n", + " \n", + " Hyporeflexia\n", + " definition of HP:0001265 (Hyporeflexia)\n", + " \n", + " \n", + " Reduction of neurologic reflexes such as the knee-jerk reaction.\n", + " definition of HP:0001265 (Hyporeflexia)\n", + " \n", + " \n", + " #Decreased reflex response #Decreased reflexes\n", + " definition of HP:0001265 (Hyporeflexia)\n", + " \n", + " \n", + " Decreased CSF neopterin level\n", + " definition of HP:0040205 (Decreased CSF neopterin level)\n", + " \n", + " \n", + " Decreased concentration of neopterin in the cerebrospinal fluid (CSF).\n", + " definition of HP:0040205 (Decreased CSF neopterin level)\n", + " \n", + " \n", + " Arthrogryposis multiplex congenita\n", + " definition of HP:0002804 (Arthrogryposis multiplex congenita)\n", + " \n", + " \n", + " Multiple congenital contractures in different body areas.\n", + " definition of HP:0002804 (Arthrogryposis multiplex congenita)\n", + " \n", + " \n", + " #Arthrogryposis #Arthrogryposis multiplex #Arthrogryposis, congenital #Multiple congenital contractures\n", + " definition of HP:0002804 (Arthrogryposis multiplex congenita)\n", + " \n", + " \n", + " Incomplete partition of the cochlea\n", + " definition of HP:0011373 (Incomplete partition of the cochlea)\n", + " \n", + " \n", + " Incomplete formation of the cochlear partition. The scala vestibuli and scala tympani separated by the cochlear partition, except in the apical turn where the two scalae are in continuity via the helicotrema.\n", + " definition of HP:0011373 (Incomplete partition of the cochlea)\n", + " \n", + " \n", + " Anti-cyclic citrullinated peptide antibody positivity\n", + " definition of HP:0034092 (Anti-cyclic citrullinated peptide antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against cyclic citrullinated peptide.\n", + " definition of HP:0034092 (Anti-cyclic citrullinated peptide antibody positivity)\n", + " \n", + " \n", + " #Anti-CCP antibody positivity\n", + " definition of HP:0034092 (Anti-cyclic citrullinated peptide antibody positivity)\n", + " \n", + " \n", + " Abnormal heart rate variability\n", + " definition of HP:0031860 (Abnormal heart rate variability)\n", + " \n", + " \n", + " Any abnormality in the variability of the time interval between successive heartbeats.\n", + " definition of HP:0031860 (Abnormal heart rate variability)\n", + " \n", + " \n", + " Ileitis\n", + " definition of HP:0032564 (Ileitis)\n", + " \n", + " \n", + " Inflammation of the ileum.\n", + " definition of HP:0032564 (Ileitis)\n", + " \n", + " \n", + " #Inflammation of the ileum\n", + " definition of HP:0032564 (Ileitis)\n", + " \n", + " \n", + " Positive JC-virus PCR test in the blood circulation\n", + " definition of HP:0430069 (Positive JC-virus PCR test in the blood circulation)\n", + " \n", + " \n", + " Detection of nucleic acid of the JC-virus (JC-Polyomavirus, John Cunningham virus) in the blood circulation.\n", + " definition of HP:0430069 (Positive JC-virus PCR test in the blood circulation)\n", + " \n", + " \n", + " #JC virus PCR in blood positive\n", + " definition of HP:0430069 (Positive JC-virus PCR test in the blood circulation)\n", + " \n", + " \n", + " Inspiratory crackles\n", + " definition of HP:0031996 (Inspiratory crackles)\n", + " \n", + " \n", + " Crackles that are heard during the inspiratory phase.\n", + " definition of HP:0031996 (Inspiratory crackles)\n", + " \n", + " \n", + " Abnormal aortic valve physiology\n", + " definition of HP:0031652 (Abnormal aortic valve physiology)\n", + " \n", + " \n", + " Fetal anemia\n", + " definition of HP:0025716 (Fetal anemia)\n", + " \n", + " \n", + " Low hemoglobin/hematocrit in a fetus as evidenced by percutaneous umbilical cord sampling and Doppler ultrasonographic assessment of the peak velocity of systolic blood flow in the middle cerebral artery.\n", + " definition of HP:0025716 (Fetal anemia)\n", + " \n", + " \n", + " Partial duplication of the proximal phalanx of the 2nd toe\n", + " definition of HP:0010423 (Partial duplication of the proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Partial duplication of proximal phalanx of second toe.\n", + " definition of HP:0010423 (Partial duplication of the proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Partial duplication of the innermost 2nd toe bone #Partial duplication of the proximal phalanx of the second toe\n", + " definition of HP:0010423 (Partial duplication of the proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Moderate\n", + " definition of HP:0012826 (Moderate)\n", + " \n", + " \n", + " Having a medium degree of severity. For quantitative traits, a deviation of between three and four standard deviations from the appropriate population mean.\n", + " definition of HP:0012826 (Moderate)\n", + " \n", + " \n", + " Rimmed vacuoles\n", + " definition of HP:0003805 (Rimmed vacuoles)\n", + " \n", + " \n", + " Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions.\n", + " definition of HP:0003805 (Rimmed vacuoles)\n", + " \n", + " \n", + " #Rimmed vacuoles on biopsy\n", + " definition of HP:0003805 (Rimmed vacuoles)\n", + " \n", + " \n", + " Pulmonary interstitial high-resolution computed tomography abnormality\n", + " definition of HP:0025389 (Pulmonary interstitial high-resolution computed tomography abnormality)\n", + " \n", + " \n", + " High-resolution computed tomography (HRCT) can distinguish findings that characterize characterize interstitial lung diseases in a way not possible with other modalities.\n", + " definition of HP:0025389 (Pulmonary interstitial high-resolution computed tomography abnormality)\n", + " \n", + " \n", + " #Pulmonary interstitiatial HRCT abnormality\n", + " definition of HP:0025389 (Pulmonary interstitial high-resolution computed tomography abnormality)\n", + " \n", + " \n", + " Piezogenic pedal papules\n", + " definition of HP:0025509 (Piezogenic pedal papules)\n", + " \n", + " \n", + " Flesh-colored or yellowish papules, 2 mm or larger, that are responses to internal mechanical pressure and weakness in the connective tissue in the dermis, appear commonly over the medial aspect of the heel, but in some cases on the wrists. They are thought to represent herniations of adipose tissue through the plantar fascia retinaculum.\n", + " definition of HP:0025509 (Piezogenic pedal papules)\n", + " \n", + " \n", + " Parietal cortex localization\n", + " definition of HP:0430131 (Parietal cortex localization)\n", + " \n", + " \n", + " Localization to or predominance in the parietal cortex of the brain.\n", + " definition of HP:0430131 (Parietal cortex localization)\n", + " \n", + " \n", + " Fractured mandible\n", + " definition of HP:0041155 (Fractured mandible)\n", + " \n", + " \n", + " A partial or complete breakage of the mandible.\n", + " definition of HP:0041155 (Fractured mandible)\n", + " \n", + " \n", + " #bone mandible\n", + " definition of HP:0041155 (Fractured mandible)\n", + " \n", + " \n", + " Increased circulating IgG1 level\n", + " definition of HP:0032298 (Increased circulating IgG1 level)\n", + " \n", + " \n", + " An abnormally increased concentration of the IgG1 subtype in the blood circulation.\n", + " definition of HP:0032298 (Increased circulating IgG1 level)\n", + " \n", + " \n", + " Transverse fracture\n", + " definition of HP:4000044 (Transverse fracture)\n", + " \n", + " \n", + " A type of fracture in which the break is in a straight line across the bone.\n", + " definition of HP:4000044 (Transverse fracture)\n", + " \n", + " \n", + " Abnormal pericardium morphology\n", + " definition of HP:0001697 (Abnormal pericardium morphology)\n", + " \n", + " \n", + " An abnormality of the pericardium, i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery.\n", + " definition of HP:0001697 (Abnormal pericardium morphology)\n", + " \n", + " \n", + " #Abnormality of the pericardium\n", + " definition of HP:0001697 (Abnormal pericardium morphology)\n", + " \n", + " \n", + " Thymic cyst\n", + " definition of HP:0034966 (Thymic cyst)\n", + " \n", + " \n", + " A closed sac of tissue (cyst) located in the thymus. Thymic cysts are a rare, benign anomaly, are usually asymptomatic, and mostly occur in the anterior mediastinum .\n", + " definition of HP:0034966 (Thymic cyst)\n", + " \n", + " \n", + " Placental abruption\n", + " definition of HP:0011419 (Placental abruption)\n", + " \n", + " \n", + " Separation of the placenta from the uterus wall before delivery.\n", + " definition of HP:0011419 (Placental abruption)\n", + " \n", + " \n", + " #Abruptio placentae\n", + " definition of HP:0011419 (Placental abruption)\n", + " \n", + " \n", + " Humerus varus\n", + " definition of HP:0003874 (Humerus varus)\n", + " \n", + " \n", + " Reduced sympathoneural responses to the cold pressor test\n", + " definition of HP:6000323 (Reduced sympathoneural responses to the cold pressor test)\n", + " \n", + " \n", + " Response to the cold pressor test below the lower limit of normal. The cold pressor test is a simple and validated test in which the subject immerses one hand or foot into ice water for 1 to 3 minutes while blood pressure (BP) and heart rate are monitored. The cold stimulus activates afferent sensory pathways that, in turn, trigger a sympathetic response resulting in an increase in BP.\n", + " definition of HP:6000323 (Reduced sympathoneural responses to the cold pressor test)\n", + " \n", + " \n", + " Absent epiphysis of the middle phalanx of the 3rd finger\n", + " definition of HP:0009321 (Absent epiphysis of the middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " Absence of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger.\n", + " definition of HP:0009321 (Absent epiphysis of the middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Absent end part of the middle bone of the middle finger\n", + " definition of HP:0009321 (Absent epiphysis of the middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " Abnormal timing of dark-adapted bright flash electroretinogram\n", + " definition of HP:0030477 (Abnormal timing of dark-adapted bright flash electroretinogram)\n", + " \n", + " \n", + " Fragmentation of the epiphysis of the distal phalanx of the 4th finger\n", + " definition of HP:0009254 (Fragmentation of the epiphysis of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " Fragmented appearance of the epiphysis of the distal phalanx of the 4th finger.\n", + " definition of HP:0009254 (Fragmentation of the epiphysis of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " #Fragmentation of end part of the outermost bone of the ring finger\n", + " definition of HP:0009254 (Fragmentation of the epiphysis of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " Single naris\n", + " definition of HP:0009932 (Single naris)\n", + " \n", + " \n", + " The presence of only a single nostril.\n", + " definition of HP:0009932 (Single naris)\n", + " \n", + " \n", + " #Mono nostril #One nostril #Single nare #Single nostril\n", + " definition of HP:0009932 (Single naris)\n", + " \n", + " \n", + " Abnormal epiphyseal ossification\n", + " definition of HP:0010656 (Abnormal epiphyseal ossification)\n", + " \n", + " \n", + " An abnormality of the formation and mineralization of an epiphysis.\n", + " definition of HP:0010656 (Abnormal epiphyseal ossification)\n", + " \n", + " \n", + " #Abnormality of the mineralisation or ossification of the epiphyses\n", + " definition of HP:0010656 (Abnormal epiphyseal ossification)\n", + " \n", + " \n", + " Severe parainfluenza infection\n", + " definition of HP:0031695 (Severe parainfluenza infection)\n", + " \n", + " \n", + " An unusually severe infection by a parainfluenza virus.\n", + " definition of HP:0031695 (Severe parainfluenza infection)\n", + " \n", + " \n", + " Villous hypertrophy of choroid plexus\n", + " definition of HP:0012422 (Villous hypertrophy of choroid plexus)\n", + " \n", + " \n", + " Overgrowth of the choroid plexus.\n", + " definition of HP:0012422 (Villous hypertrophy of choroid plexus)\n", + " \n", + " \n", + " #Choroid plexus hypertrophy\n", + " definition of HP:0012422 (Villous hypertrophy of choroid plexus)\n", + " \n", + " \n", + " Congenital symmetrical palmoplantar keratosis\n", + " definition of HP:0007553 (Congenital symmetrical palmoplantar keratosis)\n", + " \n", + " \n", + " Bronchocentric\n", + " definition of HP:0033815 (Bronchocentric)\n", + " \n", + " \n", + " Centered in bronchi or bronchioles.\n", + " definition of HP:0033815 (Bronchocentric)\n", + " \n", + " \n", + " Hypomimic face\n", + " definition of HP:0000338 (Hypomimic face)\n", + " \n", + " \n", + " A reduced degree of motion of the muscles beneath the skin of the face, often associated with reduced facial crease formation.\n", + " definition of HP:0000338 (Hypomimic face)\n", + " \n", + " \n", + " #Dull facial expression #Hypomimia\n", + " definition of HP:0000338 (Hypomimic face)\n", + " \n", + " \n", + " Jaw neoplasm\n", + " definition of HP:0030792 (Jaw neoplasm)\n", + " \n", + " \n", + " A tumor originating in the jaw (mandible or maxilla).\n", + " definition of HP:0030792 (Jaw neoplasm)\n", + " \n", + " \n", + " Gout\n", + " definition of HP:0001997 (Gout)\n", + " \n", + " \n", + " Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues.\n", + " definition of HP:0001997 (Gout)\n", + " \n", + " \n", + " #Gouty arthritis\n", + " definition of HP:0001997 (Gout)\n", + " \n", + " \n", + " Auricular tag\n", + " definition of HP:0030021 (Auricular tag)\n", + " \n", + " \n", + " Small protrusion within the pinna.\n", + " definition of HP:0030021 (Auricular tag)\n", + " \n", + " \n", + " Abnormality of redox activity\n", + " definition of HP:0025463 (Abnormality of redox activity)\n", + " \n", + " \n", + " An abnormality of the processes that maintain the redox environment of a cell or compartment within a cell, that is, the balance between reduction and oxidation chemical reactions.\n", + " definition of HP:0025463 (Abnormality of redox activity)\n", + " \n", + " \n", + " Abnormal cardiomyocyte dystrophin staining\n", + " definition of HP:0031339 (Abnormal cardiomyocyte dystrophin staining)\n", + " \n", + " \n", + " Anomalous staining of dystrophin in cardiomyocytes.\n", + " definition of HP:0031339 (Abnormal cardiomyocyte dystrophin staining)\n", + " \n", + " \n", + " Abnormal thalamic size\n", + " definition of HP:0012693 (Abnormal thalamic size)\n", + " \n", + " \n", + " Deviation from the normal range of size of the thalamus.\n", + " definition of HP:0012693 (Abnormal thalamic size)\n", + " \n", + " \n", + " Fluctuations in consciousness\n", + " definition of HP:0007159 (Fluctuations in consciousness)\n", + " \n", + " \n", + " Changes in one's level of awareness and responsiveness to their environment.\n", + " definition of HP:0007159 (Fluctuations in consciousness)\n", + " \n", + " \n", + " Visual hallucination\n", + " definition of HP:0002367 (Visual hallucination)\n", + " \n", + " \n", + " Visual perception in the absence of a visual stimulus.\n", + " definition of HP:0002367 (Visual hallucination)\n", + " \n", + " \n", + " #Visual hallucinations\n", + " definition of HP:0002367 (Visual hallucination)\n", + " \n", + " \n", + " Abnormal circulating keto acid concentration\n", + " definition of HP:0033435 (Abnormal circulating keto acid concentration)\n", + " \n", + " \n", + " A deviation from the normal concentration of a keto acid in the blood circulation. Keto acids or ketoacids are organic compounds that contain a carboxylic acid group and a ketone group.\n", + " definition of HP:0033435 (Abnormal circulating keto acid concentration)\n", + " \n", + " \n", + " Hyperkeratosis lenticularis perstans\n", + " definition of HP:0007570 (Hyperkeratosis lenticularis perstans)\n", + " \n", + " \n", + " Hyperkeratosis lenticularis perstans (HLP), also known as Flegel disease, is a keratinization abnormality characterized by small, asymptomatic erythematous papules that leave characteristic punctate bleeding when they become detached. The lesions generally occur symmetrically along the top of the foot and on the legs, appearing more rarely on the arms, forearms, palms, and soles, and even on the oral mucosa.\n", + " definition of HP:0007570 (Hyperkeratosis lenticularis perstans)\n", + " \n", + " \n", + " Reduced respiratory ciliary beating frequency\n", + " definition of HP:0033158 (Reduced respiratory ciliary beating frequency)\n", + " \n", + " \n", + " An abnormal reduction in the number of beats per unit time of the respiratory cilia.\n", + " definition of HP:0033158 (Reduced respiratory ciliary beating frequency)\n", + " \n", + " \n", + " #Dminished respiratory ciliary beat frequency\n", + " definition of HP:0033158 (Reduced respiratory ciliary beating frequency)\n", + " \n", + " \n", + " Angiokeratoma of Mibelli\n", + " definition of HP:0034411 (Angiokeratoma of Mibelli)\n", + " \n", + " \n", + " A type of angiokeratoma that typically presents in women on the dorsa of fingers and toes and multiple dark red papules with a slightly verrucous surface, each measuring about 3-5 mm in diameter.\n", + " definition of HP:0034411 (Angiokeratoma of Mibelli)\n", + " \n", + " \n", + " Compound motor action potential abnormality\n", + " definition of HP:0033580 (Compound motor action potential abnormality)\n", + " \n", + " \n", + " An abnormal finding in a compound motor action potential measurement in EMG. Nerve conduction studies involve the application of a depolarising square wave electrical pulses to the skin over a peripheral nerve producing: (1) a propagated nerve action potential (NAP) recorded at a distant point over the same nerve: and (2) a compound muscle action potential (CMAP) arising from the activation of muscle fibers in a target muscle supplied by the nerve. In both cases these may be recorded with surface or needle electrodes. The CMAP is a summated voltage response from the individual muscle fiber action potentials. The shortest latency of the CMAP is the time from stimulus artifact to onset of the response and is a biphasic response with an initial upward deflection followed by a smaller downward deflection. The CMAP amplitude is measured from baseline to negative peak (the neurophysiological convention is that negative voltage is demonstrated by an upward deflection) and measured in millivolts (mV).\n", + " definition of HP:0033580 (Compound motor action potential abnormality)\n", + " \n", + " \n", + " Rectocele\n", + " definition of HP:0100822 (Rectocele)\n", + " \n", + " \n", + " A Rectocele results from a tear in the rectovaginal septum (which is normally a tough, fibrous, sheet-like divider between the rectum and vagina). Rectal tissue bulges through this tear and into the vagina as a hernia. There are two main causes of this tear: childbirth, and hysterectomy.\n", + " definition of HP:0100822 (Rectocele)\n", + " \n", + " \n", + " Abnormal cardiomyocyte morphology\n", + " definition of HP:0031331 (Abnormal cardiomyocyte morphology)\n", + " \n", + " \n", + " Any structural anomaly of cardiomyocytes, which are terminally differentiated muscle cells in the heart that are interconnected end to end by gap junctions, which allows coordinated contraction of heart tissue.\n", + " definition of HP:0031331 (Abnormal cardiomyocyte morphology)\n", + " \n", + " \n", + " #Abnormal cardiac muscle cell morphology\n", + " definition of HP:0031331 (Abnormal cardiomyocyte morphology)\n", + " \n", + " \n", + " Areolar fullness\n", + " definition of HP:0032315 (Areolar fullness)\n", + " \n", + " \n", + " The areola (ring of pigmented skin surrounding the nipple) is filled out so as to produce a rounded shape.\n", + " definition of HP:0032315 (Areolar fullness)\n", + " \n", + " \n", + " Paracentral\n", + " definition of HP:0030647 (Paracentral)\n", + " \n", + " \n", + " EEG with 4-5/second background activity\n", + " definition of HP:0011177 (EEG with 4-5/second background activity)\n", + " \n", + " \n", + " EEG background activity at 4-5/second.\n", + " definition of HP:0011177 (EEG with 4-5/second background activity)\n", + " \n", + " \n", + " Pupillary hypersensitivity to parasympathomimetic agents\n", + " definition of HP:6000993 (Pupillary hypersensitivity to parasympathomimetic agents)\n", + " \n", + " \n", + " A higher than normal tendency of parasympathomimetic agents to induce miosis.\n", + " definition of HP:6000993 (Pupillary hypersensitivity to parasympathomimetic agents)\n", + " \n", + " \n", + " Positive mumps virus PCR test in the blood circulation\n", + " definition of HP:6000900 (Positive mumps virus PCR test in the blood circulation)\n", + " \n", + " \n", + " Detection of nucleic acid of the mumps virus in the blood circulation by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR.\n", + " definition of HP:6000900 (Positive mumps virus PCR test in the blood circulation)\n", + " \n", + " \n", + " Inappropriate elation\n", + " definition of HP:0025768 (Inappropriate elation)\n", + " \n", + " \n", + " A feeling of cheerfulness expressed in speech or actions, including facial expressions, movements, or gesticulations, that is considered beyond the norm for the context and interactions. It is a sustained elevated emotional state that is generally not responsive to contextual cues and frequently stands out for being inappropriate or out of place in a social circumstance.\n", + " definition of HP:0025768 (Inappropriate elation)\n", + " \n", + " \n", + " Allergic conjunctivitis\n", + " definition of HP:0007879 (Allergic conjunctivitis)\n", + " \n", + " \n", + " Allergic Conjunctivitis is an allergic inflammation of the conjunctiva.\n", + " definition of HP:0007879 (Allergic conjunctivitis)\n", + " \n", + " \n", + " Abnormality of skin physiology\n", + " definition of HP:0011122 (Abnormality of skin physiology)\n", + " \n", + " \n", + " Any abnormality of the physiological function of the skin.\n", + " definition of HP:0011122 (Abnormality of skin physiology)\n", + " \n", + " \n", + " #Abnormality of skin physiology\n", + " definition of HP:0011122 (Abnormality of skin physiology)\n", + " \n", + " \n", + " Preauricular skin tag\n", + " definition of HP:0000384 (Preauricular skin tag)\n", + " \n", + " \n", + " A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear).\n", + " definition of HP:0000384 (Preauricular skin tag)\n", + " \n", + " \n", + " #Ear tag #Periauricular skin tag #Preauricular acrochordon #Preauricular fibroepithelial polyp #Preauricular skin tags #Preauricular tag #Preauricular tags\n", + " definition of HP:0000384 (Preauricular skin tag)\n", + " \n", + " \n", + " Fractured maxilla\n", + " definition of HP:0041165 (Fractured maxilla)\n", + " \n", + " \n", + " A partial or complete breakage of the maxilla.\n", + " definition of HP:0041165 (Fractured maxilla)\n", + " \n", + " \n", + " #bone maxilla\n", + " definition of HP:0041165 (Fractured maxilla)\n", + " \n", + " \n", + " Ovarian dermoid cyst\n", + " definition of HP:0025274 (Ovarian dermoid cyst)\n", + " \n", + " \n", + " An cystic ovarian teratoma composed of dermal and epidermal elements and containing tissue components including hair, teeth, bone, thyroid, and others.\n", + " definition of HP:0025274 (Ovarian dermoid cyst)\n", + " \n", + " \n", + " #Mature cystic ovarian teratoma\n", + " definition of HP:0025274 (Ovarian dermoid cyst)\n", + " \n", + " \n", + " Horizontal eyebrow\n", + " definition of HP:0011228 (Horizontal eyebrow)\n", + " \n", + " \n", + " An eyebrow that extends straight across the brow, without curve.\n", + " definition of HP:0011228 (Horizontal eyebrow)\n", + " \n", + " \n", + " #Flat eyebrow #Horizontal eyebrow #Straight eyebrow\n", + " definition of HP:0011228 (Horizontal eyebrow)\n", + " \n", + " \n", + " Abnormality of the metopic suture\n", + " definition of HP:0005556 (Abnormality of the metopic suture)\n", + " \n", + " \n", + " The frontal suture divides the two halves of the frontal bone of the skull in infants and children and generally undergoes fusion by the age of six. A persistent frontal suture is referred to as a \\"metopic suture\\".\n", + " definition of HP:0005556 (Abnormality of the metopic suture)\n", + " \n", + " \n", + " Elevated circulating lipoprotein X concentration\n", + " definition of HP:6000566 (Elevated circulating lipoprotein X concentration)\n", + " \n", + " \n", + " The concentration of lipoprotein X in the blood circulation is above the upper limit of normal.\n", + " definition of HP:6000566 (Elevated circulating lipoprotein X concentration)\n", + " \n", + " \n", + " Blotching pigmentation of the skin\n", + " definition of HP:0007610 (Blotching pigmentation of the skin)\n", + " \n", + " \n", + " Deep longitudinal plantar crease\n", + " definition of HP:0004681 (Deep longitudinal plantar crease)\n", + " \n", + " \n", + " Narrow, paramedian longitudinal depressions in the plantar skin of the forefoot.\n", + " definition of HP:0004681 (Deep longitudinal plantar crease)\n", + " \n", + " \n", + " #Longitudinal groove on soles\n", + " definition of HP:0004681 (Deep longitudinal plantar crease)\n", + " \n", + " \n", + " Partial absence of specific antibody response to meningococcus vaccine\n", + " definition of HP:0410306 (Partial absence of specific antibody response to meningococcus vaccine)\n", + " \n", + " \n", + " A reduced ability to synthesize postvaccination antibodies against a meningococcus antigen, as measured by antibody titer determination following vaccination.\n", + " definition of HP:0410306 (Partial absence of specific antibody response to meningococcus vaccine)\n", + " \n", + " \n", + " Abnormal elasticity of skin\n", + " definition of HP:0010647 (Abnormal elasticity of skin)\n", + " \n", + " \n", + " Any abnormal increase or reduction in skin elasticity.\n", + " definition of HP:0010647 (Abnormal elasticity of skin)\n", + " \n", + " \n", + " Urethral atresia, female\n", + " definition of HP:0000067 (Urethral atresia, female)\n", + " \n", + " \n", + " Congenital anomaly characterized by closure or failure to develop an opening in the urethra in females.\n", + " definition of HP:0000067 (Urethral atresia, female)\n", + " \n", + " \n", + " Symphalangism affecting the distal phalanx of the 5th toe\n", + " definition of HP:0100478 (Symphalangism affecting the distal phalanx of the 5th toe)\n", + " \n", + " \n", + " #Fused outermost bones of the little toe #Fused outermost bones of the pinkie toe #Fused outermost bones of the pinky toe\n", + " definition of HP:0100478 (Symphalangism affecting the distal phalanx of the 5th toe)\n", + " \n", + " \n", + " Hyperglycemia\n", + " definition of HP:0003074 (Hyperglycemia)\n", + " \n", + " \n", + " An increased concentration of glucose in the blood.\n", + " definition of HP:0003074 (Hyperglycemia)\n", + " \n", + " \n", + " #High blood glucose #High blood sugar\n", + " definition of HP:0003074 (Hyperglycemia)\n", + " \n", + " \n", + " Limited wrist extension\n", + " definition of HP:0006251 (Limited wrist extension)\n", + " \n", + " \n", + " Congenital, generalized hypertrichosis\n", + " definition of HP:0004540 (Congenital, generalized hypertrichosis)\n", + " \n", + " \n", + " A confluent, generalized overgrowth of silvery blonde to gray lanugo hair at birth.\n", + " definition of HP:0004540 (Congenital, generalized hypertrichosis)\n", + " \n", + " \n", + " #Congenital generalised hypertrichosis #Congenital generalized hypertrichosis #Congenital, generalised hypertrichosis #Hypertrichosis universalis\n", + " definition of HP:0004540 (Congenital, generalized hypertrichosis)\n", + " \n", + " \n", + " Metacarpophalangeal thumb joint contracture\n", + " definition of HP:0009625 (Metacarpophalangeal thumb joint contracture)\n", + " \n", + " \n", + " Chronic loss of joint motion of the metacarpophalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio metacarpophalangealis pollicis.\n", + " definition of HP:0009625 (Metacarpophalangeal thumb joint contracture)\n", + " \n", + " \n", + " #Contracture of the metacarpophalangeal joint of the thumb\n", + " definition of HP:0009625 (Metacarpophalangeal thumb joint contracture)\n", + " \n", + " \n", + " Dehydration\n", + " definition of HP:0001944 (Dehydration)\n", + " \n", + " \n", + " #Dehydration #Exsiccosis\n", + " definition of HP:0001944 (Dehydration)\n", + " \n", + " \n", + " Duplicated tongue\n", + " definition of HP:0040294 (Duplicated tongue)\n", + " \n", + " \n", + " #Duplication of tongue #Tongue duplicated #Tongue duplication\n", + " definition of HP:0040294 (Duplicated tongue)\n", + " \n", + " \n", + " Monocarboxylic aciduria\n", + " definition of HP:0034653 (Monocarboxylic aciduria)\n", + " \n", + " \n", + " Level of a monocarboxylic acid in the urine above the upper limit of normal. A monocarboxylic acid is an oxoacid containing one carboxy group.\n", + " definition of HP:0034653 (Monocarboxylic aciduria)\n", + " \n", + " \n", + " Perilobular\n", + " definition of HP:0033813 (Perilobular)\n", + " \n", + " \n", + " Situated or occurring around a lobe of an organ.\n", + " definition of HP:0033813 (Perilobular)\n", + " \n", + " \n", + " Increased circulating IgG4 level\n", + " definition of HP:0032300 (Increased circulating IgG4 level)\n", + " \n", + " \n", + " An abnormally increased concentration of the IgG4 subtype in the blood circulation.\n", + " definition of HP:0032300 (Increased circulating IgG4 level)\n", + " \n", + " \n", + " Positive urine norcotinine test\n", + " definition of HP:0410239 (Positive urine norcotinine test)\n", + " \n", + " \n", + " Detection of norcotinine, a metabolite of nicotine, in urine.\n", + " definition of HP:0410239 (Positive urine norcotinine test)\n", + " \n", + " \n", + " Abnormal proportion of central memory CD4-positive, alpha-beta T cells\n", + " definition of HP:0410381 (Abnormal proportion of central memory CD4-positive, alpha-beta T cells)\n", + " \n", + " \n", + " An abnormal proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.\n", + " definition of HP:0410381 (Abnormal proportion of central memory CD4-positive, alpha-beta T cells)\n", + " \n", + " \n", + " Multiple unerupted teeth\n", + " definition of HP:0006283 (Multiple unerupted teeth)\n", + " \n", + " \n", + " The presence of multiple embedded tooth germs which have failed to erupt.\n", + " definition of HP:0006283 (Multiple unerupted teeth)\n", + " \n", + " \n", + " #Failure of eruption of multiple teeth #Multiple non-erupting teeth #Multiple unerupted teeth\n", + " definition of HP:0006283 (Multiple unerupted teeth)\n", + " \n", + " \n", + " Hallux varus\n", + " definition of HP:0008080 (Hallux varus)\n", + " \n", + " \n", + " Medial deviation of the great toe owing to a deformity of the great toe joint causing the hallux to deviate medially.\n", + " definition of HP:0008080 (Hallux varus)\n", + " \n", + " \n", + " #Hitchhiker hallux #Hyperabducted big toe #Medially deviated halluces\n", + " definition of HP:0008080 (Hallux varus)\n", + " \n", + " \n", + " Abnormality of the middle phalanx of the 5th toe\n", + " definition of HP:0010393 (Abnormality of the middle phalanx of the 5th toe)\n", + " \n", + " \n", + " #Abnormality of the middle bone of the little toe #Abnormality of the middle bone of the pinkie toe #Abnormality of the middle bone of the pinky toe\n", + " definition of HP:0010393 (Abnormality of the middle phalanx of the 5th toe)\n", + " \n", + " \n", + " Lymphadenitis\n", + " definition of HP:0002840 (Lymphadenitis)\n", + " \n", + " \n", + " Inflammation of a lymph node.\n", + " definition of HP:0002840 (Lymphadenitis)\n", + " \n", + " \n", + " #Inflammation of the lymph nodes\n", + " definition of HP:0002840 (Lymphadenitis)\n", + " \n", + " \n", + " Cellular crescent\n", + " definition of HP:0033317 (Cellular crescent)\n", + " \n", + " \n", + " A type of glomerular crescent characterized by extracapillary hypercellularity of greater than two cell layers and involving more than 10% of the capsular circumference, composed of greater than 75% cells with or without fibrin, and less than 25% fibrous matrix.\n", + " definition of HP:0033317 (Cellular crescent)\n", + " \n", + " \n", + " Cone-shaped capital femoral epiphysis\n", + " definition of HP:0008789 (Cone-shaped capital femoral epiphysis)\n", + " \n", + " \n", + " A cone-shaped deformity of the proximal epiphysis of the femur.\n", + " definition of HP:0008789 (Cone-shaped capital femoral epiphysis)\n", + " \n", + " \n", + " #Cone-shaped end part of innermost thighbone #Tear drop-shaped capital femoral epiphysis\n", + " definition of HP:0008789 (Cone-shaped capital femoral epiphysis)\n", + " \n", + " \n", + " Delayed skeletal maturation\n", + " definition of HP:0002750 (Delayed skeletal maturation)\n", + " \n", + " \n", + " A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.\n", + " definition of HP:0002750 (Delayed skeletal maturation)\n", + " \n", + " \n", + " #Delayed bone age #Delayed bone age before puberty #Delayed bone maturation #Delayed skeletal development #Retarded bone age #Skeletal maturation retardation\n", + " definition of HP:0002750 (Delayed skeletal maturation)\n", + " \n", + " \n", + " Abnormality of stem of antihelix\n", + " definition of HP:0011244 (Abnormality of stem of antihelix)\n", + " \n", + " \n", + " An abnormality of the stem of the antihelix, which is the part below the bifurcation of the antihelix into the inferior and superior crura.\n", + " definition of HP:0011244 (Abnormality of stem of antihelix)\n", + " \n", + " \n", + " Clinodactyly of the 5th finger\n", + " definition of HP:0004209 (Clinodactyly of the 5th finger)\n", + " \n", + " \n", + " Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).\n", + " definition of HP:0004209 (Clinodactyly of the 5th finger)\n", + " \n", + " \n", + " #Bilateral fifth digit clinodactyly #Bilateral fifth finger clinodactyly #Clinodactyly of fifth digit #Clinodactyly of the little finger #Fifth finger clinodactyly #Permanent curving of the pinkie finger\n", + " definition of HP:0004209 (Clinodactyly of the 5th finger)\n", + " \n", + " \n", + " Absence of pectoralis minor muscle\n", + " definition of HP:0005255 (Absence of pectoralis minor muscle)\n", + " \n", + " \n", + " Aplasia (congenital absence) of the pectoralis minor.\n", + " definition of HP:0005255 (Absence of pectoralis minor muscle)\n", + " \n", + " \n", + " #Pectoralis minor aplasia\n", + " definition of HP:0005255 (Absence of pectoralis minor muscle)\n", + " \n", + " \n", + " Gait imbalance\n", + " definition of HP:0002141 (Gait imbalance)\n", + " \n", + " \n", + " #Abnormality of balance #Abnormality of equilibrium #Imbalanced walk\n", + " definition of HP:0002141 (Gait imbalance)\n", + " \n", + " \n", + " Corneal ulceration\n", + " definition of HP:0012804 (Corneal ulceration)\n", + " \n", + " \n", + " Disruption of the epithelial layer of the cornea with involvement of the underlying stroma.\n", + " definition of HP:0012804 (Corneal ulceration)\n", + " \n", + " \n", + " #Corneal ulcer #Corneal ulcerations\n", + " definition of HP:0012804 (Corneal ulceration)\n", + " \n", + " \n", + " Broad long bone diaphyses\n", + " definition of HP:0006371 (Broad long bone diaphyses)\n", + " \n", + " \n", + " Increased width of the diaphysis of long bones.\n", + " definition of HP:0006371 (Broad long bone diaphyses)\n", + " \n", + " \n", + " #Broad shaft of long bone #Wide shaft of long bone\n", + " definition of HP:0006371 (Broad long bone diaphyses)\n", + " \n", + " \n", + " Y-shaped metatarsals\n", + " definition of HP:0010567 (Y-shaped metatarsals)\n", + " \n", + " \n", + " Y-shaped metatarsals are the result of a partial fusion of two metatarsal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metatarsals may be seen in combination with polydactyly.\n", + " definition of HP:0010567 (Y-shaped metatarsals)\n", + " \n", + " \n", + " #Y-shaped long bone of foot\n", + " definition of HP:0010567 (Y-shaped metatarsals)\n", + " \n", + " \n", + " Emotional dearth\n", + " definition of HP:0030213 (Emotional dearth)\n", + " \n", + " \n", + " The inability to feel or express emotions. It is generally recognized by the person who often complains that they are unable to feel anything; sadness, joy, or contentment are not experienced, rather a sense of nothingness prevails. This may be dimensional, ranging from limited ability to experience emotions to the perceived complete inability to feel emotions.\n", + " definition of HP:0030213 (Emotional dearth)\n", + " \n", + " \n", + " #Emotional blunting #Inability to feel emotions\n", + " definition of HP:0030213 (Emotional dearth)\n", + " \n", + " \n", + " Otitis media\n", + " definition of HP:0000388 (Otitis media)\n", + " \n", + " \n", + " Inflammation or infection of the middle ear.\n", + " definition of HP:0000388 (Otitis media)\n", + " \n", + " \n", + " #Middle ear infection\n", + " definition of HP:0000388 (Otitis media)\n", + " \n", + " \n", + " Anti-desmoplakin I antibody positivity\n", + " definition of HP:4000017 (Anti-desmoplakin I antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against desmoplakin-1.\n", + " definition of HP:4000017 (Anti-desmoplakin I antibody positivity)\n", + " \n", + " \n", + " Anti-epidermal transglutaminase antibody positivity\n", + " definition of HP:0033565 (Anti-epidermal transglutaminase antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against epidermal transglutaminase.\n", + " definition of HP:0033565 (Anti-epidermal transglutaminase antibody positivity)\n", + " \n", + " \n", + " #Anti-epidermal transglutaminase (anti-eTG) antibody #Anti-eTG antibody positivity #Anti-keratinocyte transglutaminase #Anti-TG3 antibody\n", + " definition of HP:0033565 (Anti-epidermal transglutaminase antibody positivity)\n", + " \n", + " \n", + " Recurrent cutaneous fungal infections\n", + " definition of HP:0011370 (Recurrent cutaneous fungal infections)\n", + " \n", + " \n", + " Increased susceptibility to cutaneous fungal infections, as manifested by recurrent episodes of cutaneous fungal infections.\n", + " definition of HP:0011370 (Recurrent cutaneous fungal infections)\n", + " \n", + " \n", + " Ocular albinism\n", + " definition of HP:0001107 (Ocular albinism)\n", + " \n", + " \n", + " An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina.\n", + " definition of HP:0001107 (Ocular albinism)\n", + " \n", + " \n", + " #Absent pigmentation in the eye #Albinism, Ocular\n", + " definition of HP:0001107 (Ocular albinism)\n", + " \n", + " \n", + " Osteolytic defects of the proximal phalanx of the hallux\n", + " definition of HP:0010089 (Osteolytic defects of the proximal phalanx of the hallux)\n", + " \n", + " \n", + " Sulfur-containing abscess\n", + " definition of HP:6000458 (Sulfur-containing abscess)\n", + " \n", + " \n", + " An abscess containing tiny yellow clumps (sulfur granules), formed by infection with Actinomyces and generally associated with a granulomatous and suppurative infection.\n", + " definition of HP:6000458 (Sulfur-containing abscess)\n", + " \n", + " \n", + " Retinopathy of prematurity stage 5\n", + " definition of HP:0500056 (Retinopathy of prematurity stage 5)\n", + " \n", + " \n", + " Funnel detachment from the retina with generally traction in all four quadrants.\n", + " definition of HP:0500056 (Retinopathy of prematurity stage 5)\n", + " \n", + " \n", + " #ROP stage 5\n", + " definition of HP:0500056 (Retinopathy of prematurity stage 5)\n", + " \n", + " \n", + " Scapulohumeral synostosis\n", + " definition of HP:0006595 (Scapulohumeral synostosis)\n", + " \n", + " \n", + " Bony fusion between the humerus and scapula, leading to an impairment in mobility of the affected shoulder joint.\n", + " definition of HP:0006595 (Scapulohumeral synostosis)\n", + " \n", + " \n", + " #Fusion of shoulder blade to long bone in upper arm #Humero-scapulo synostosis #Humeroscapular synostosis #Synostosis of shoulder joint\n", + " definition of HP:0006595 (Scapulohumeral synostosis)\n", + " \n", + " \n", + " Bladder duplication\n", + " definition of HP:0025489 (Bladder duplication)\n", + " \n", + " \n", + " A congenital anomaly characterized by the presence of two bladders.\n", + " definition of HP:0025489 (Bladder duplication)\n", + " \n", + " \n", + " Hypodysplasia of the corpus callosum\n", + " definition of HP:0006849 (Hypodysplasia of the corpus callosum)\n", + " \n", + " \n", + " Developmental defect characterized by a small and malformed corpus callosum.\n", + " definition of HP:0006849 (Hypodysplasia of the corpus callosum)\n", + " \n", + " \n", + " Short distal phalanx of the 4th finger\n", + " definition of HP:0009290 (Short distal phalanx of the 4th finger)\n", + " \n", + " \n", + " Hypoplastic/small distal phalanx of the fourth finger.\n", + " definition of HP:0009290 (Short distal phalanx of the 4th finger)\n", + " \n", + " \n", + " #Hypoplastic/small distal phalanx of the 4th finger #Short distal phalanx of the fourth finger #Short outermost bone of ring finger\n", + " definition of HP:0009290 (Short distal phalanx of the 4th finger)\n", + " \n", + " \n", + " Anesthesic-triggered malignant hyperthermia\n", + " definition of HP:0034733 (Anesthesic-triggered malignant hyperthermia)\n", + " \n", + " \n", + " Malignant hyperthermia that is characterized by a rapid increase in temperature to 39-42 degrees C in response to inhalational anesthetics such as halothane or to muscle relaxants such as succinylcholine.\n", + " definition of HP:0034733 (Anesthesic-triggered malignant hyperthermia)\n", + " \n", + " \n", + " #Malignant hyperthermia with anaesthesia #Malignant hyperthermia with anesthesia\n", + " definition of HP:0034733 (Anesthesic-triggered malignant hyperthermia)\n", + " \n", + " \n", + " Perioral eczema\n", + " definition of HP:0011127 (Perioral eczema)\n", + " \n", + " \n", + " A type of eczema that occurs in the lips and perioral area.\n", + " definition of HP:0011127 (Perioral eczema)\n", + " \n", + " \n", + " #Eczema around the mouth\n", + " definition of HP:0011127 (Perioral eczema)\n", + " \n", + " \n", + " Uveal ectropion\n", + " definition of HP:0025358 (Uveal ectropion)\n", + " \n", + " \n", + " Presence of iris pigment epithelium on the anterior surface of the iris.\n", + " definition of HP:0025358 (Uveal ectropion)\n", + " \n", + " \n", + " #Ectropion uveae\n", + " definition of HP:0025358 (Uveal ectropion)\n", + " \n", + " \n", + " Eggshell calcification of lymph nodes\n", + " definition of HP:6001019 (Eggshell calcification of lymph nodes)\n", + " \n", + " \n", + " Eggshell calcification refers to fine calcification seen at the periphery of a mass and usually relates to lamellar lymph node calcification.\n", + " definition of HP:6001019 (Eggshell calcification of lymph nodes)\n", + " \n", + " \n", + " #Peripheral calcification of lymph nodes\n", + " definition of HP:6001019 (Eggshell calcification of lymph nodes)\n", + " \n", + " \n", + " Abnormal upper motor neuron morphology\n", + " definition of HP:0002127 (Abnormal upper motor neuron morphology)\n", + " \n", + " \n", + " Any structural anomaly that affects the upper motor neuron.\n", + " definition of HP:0002127 (Abnormal upper motor neuron morphology)\n", + " \n", + " \n", + " #Abnormal shape of upper motor neuron\n", + " definition of HP:0002127 (Abnormal upper motor neuron morphology)\n", + " \n", + " \n", + " Patellar subluxation\n", + " definition of HP:0010499 (Patellar subluxation)\n", + " \n", + " \n", + " The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar subluxation refers to an unstable kneecap that does not slide centrally within its groove, i.e., a partial dislocation of the patella.\n", + " definition of HP:0010499 (Patellar subluxation)\n", + " \n", + " \n", + " #Partial knee cap dislocation #Subluxation of patella\n", + " definition of HP:0010499 (Patellar subluxation)\n", + " \n", + " \n", + " Deep white matter hypodensities\n", + " definition of HP:0007321 (Deep white matter hypodensities)\n", + " \n", + " \n", + " Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the deep cerebral white matter.\n", + " definition of HP:0007321 (Deep white matter hypodensities)\n", + " \n", + " \n", + " #Deep cerebral white matter hypodensities\n", + " definition of HP:0007321 (Deep white matter hypodensities)\n", + " \n", + " \n", + " Inheritance qualifier\n", + " definition of HP:0034335 (Inheritance qualifier)\n", + " \n", + " \n", + " The terms in this hierarchy can be used to specify the context in which inheritance of a disease is typically observed.\n", + " definition of HP:0034335 (Inheritance qualifier)\n", + " \n", + " \n", + " #Inheritance modifier\n", + " definition of HP:0034335 (Inheritance qualifier)\n", + " \n", + " \n", + " Parathyroid carcinoma\n", + " definition of HP:0006780 (Parathyroid carcinoma)\n", + " \n", + " \n", + " A malignancy of the parathyroid glands. Parathyroid carcinoma usually secretes parathyroid hormone, leading to hyperparathyroidism.\n", + " definition of HP:0006780 (Parathyroid carcinoma)\n", + " \n", + " \n", + " #Parathyroid Cancer\n", + " definition of HP:0006780 (Parathyroid carcinoma)\n", + " \n", + " \n", + " Chorioretinal atrophy\n", + " definition of HP:0000533 (Chorioretinal atrophy)\n", + " \n", + " \n", + " Atrophy of the choroid and retinal layers of the fundus.\n", + " definition of HP:0000533 (Chorioretinal atrophy)\n", + " \n", + " \n", + " #Chorioretinal thinning\n", + " definition of HP:0000533 (Chorioretinal atrophy)\n", + " \n", + " \n", + " Bladder polyp\n", + " definition of HP:0031261 (Bladder polyp)\n", + " \n", + " \n", + " An abnormal growth that projects from the mucous membrane of the urinary bladder.\n", + " definition of HP:0031261 (Bladder polyp)\n", + " \n", + " \n", + " Michaelis-Gutmann bodies\n", + " definition of HP:0033046 (Michaelis-Gutmann bodies)\n", + " \n", + " \n", + " Basophilic intracytoplasmic inclusions in macrophages. The inclusions have a small, round laminated appearance. Electron microscopy of Michaelis-Gutmann bodies exhibits partially digested bacteria.\n", + " definition of HP:0033046 (Michaelis-Gutmann bodies)\n", + " \n", + " \n", + " Abnormal fetal long-bone echogenicity\n", + " definition of HP:0034072 (Abnormal fetal long-bone echogenicity)\n", + " \n", + " \n", + " Any deviation from the normal appearing echogenicity of the fetal bone. Echogenicity refers to the ability of tissue to reflect ultrasound waves back toward the transducer and produce an echo. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. The higher the echogenicity of tissues, the brighter they appear on ultrasound imaging.\n", + " definition of HP:0034072 (Abnormal fetal long-bone echogenicity)\n", + " \n", + " \n", + " Vanishing testis\n", + " definition of HP:0012870 (Vanishing testis)\n", + " \n", + " \n", + " A condition which is considered to be due to the subsequent atrophy and disappearance in fetal life of an initially normal testis. In the presence of spermatic cord structures is evidence of the presence of the testis in early intrauterine life. When associated with a blind-ending spermatic cord, this entity is named as his absence of a testis in an otherwise normal 46XY male is usually unilateral and is assumed to be a consequence of intrauterine or perinatal torsion or infarction.\n", + " definition of HP:0012870 (Vanishing testis)\n", + " \n", + " \n", + " #Vanishing testis\n", + " definition of HP:0012870 (Vanishing testis)\n", + " \n", + " \n", + " Abnormality of the epiphyses of the 3rd toe\n", + " definition of HP:0010329 (Abnormality of the epiphyses of the 3rd toe)\n", + " \n", + " \n", + " #Abnormality of the end part of the 3rd toe bone\n", + " definition of HP:0010329 (Abnormality of the epiphyses of the 3rd toe)\n", + " \n", + " \n", + " Decreased activity of mitochondrial complex III\n", + " definition of HP:0011924 (Decreased activity of mitochondrial complex III)\n", + " \n", + " \n", + " A reduction in the activity of the mitochondrial respiratory chain complex III, which is part of the electron transport chain in mitochondria.\n", + " definition of HP:0011924 (Decreased activity of mitochondrial complex III)\n", + " \n", + " \n", + " Abnormal thyroid morphology\n", + " definition of HP:0011772 (Abnormal thyroid morphology)\n", + " \n", + " \n", + " A structural abnormality of the thyroid gland.\n", + " definition of HP:0011772 (Abnormal thyroid morphology)\n", + " \n", + " \n", + " #Abnormal shape of thyroid gland #Abnormality of thyroid morphology\n", + " definition of HP:0011772 (Abnormal thyroid morphology)\n", + " \n", + " \n", + " Nasal mucosa telangiectasia\n", + " definition of HP:0000434 (Nasal mucosa telangiectasia)\n", + " \n", + " \n", + " Telangiectasia of the nasal mucosa.\n", + " definition of HP:0000434 (Nasal mucosa telangiectasia)\n", + " \n", + " \n", + " #Angioectasia of mucosa of nose #Angioectasia of mucous membrane of nose #Angioectasia of nasal mucous membrane #Nasal mucous membrane telangiectasia #Spider veins of mucosa of nose #Spider veins of mucous membrane of nose #Spider veins of nasal mucous membrane #Telangiectasia of mucosa of nose #Telangiectasia of mucous membrane of nose #Telangiectasia of nasal mucous membrane\n", + " definition of HP:0000434 (Nasal mucosa telangiectasia)\n", + " \n", + " \n", + " Widened cerebral subarachnoid space\n", + " definition of HP:0012766 (Widened cerebral subarachnoid space)\n", + " \n", + " \n", + " An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebrum.\n", + " definition of HP:0012766 (Widened cerebral subarachnoid space)\n", + " \n", + " \n", + " Medullary peritubular capillary intraluminal thrombi\n", + " definition of HP:0033870 (Medullary peritubular capillary intraluminal thrombi)\n", + " \n", + " \n", + " Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the medulla of the kidney.\n", + " definition of HP:0033870 (Medullary peritubular capillary intraluminal thrombi)\n", + " \n", + " \n", + " #Intraluminal thrombi within medullary peritubular capillaries\n", + " definition of HP:0033870 (Medullary peritubular capillary intraluminal thrombi)\n", + " \n", + " \n", + " Beevor's sign\n", + " definition of HP:0030664 (Beevor's sign)\n", + " \n", + " \n", + " Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibers predominate pulling upwards the umbilicus.\n", + " definition of HP:0030664 (Beevor's sign)\n", + " \n", + " \n", + " Subcutaneous arteriolar thrombosis\n", + " definition of HP:6000075 (Subcutaneous arteriolar thrombosis)\n", + " \n", + " \n", + " Fibrin thrombi inside subcutaneous arterioles.\n", + " definition of HP:6000075 (Subcutaneous arteriolar thrombosis)\n", + " \n", + " \n", + " Language impairment\n", + " definition of HP:0002463 (Language impairment)\n", + " \n", + " \n", + " Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure, or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations.\n", + " definition of HP:0002463 (Language impairment)\n", + " \n", + " \n", + " #Language disorder\n", + " definition of HP:0002463 (Language impairment)\n", + " \n", + " \n", + " Adrenal insufficiency\n", + " definition of HP:0000846 (Adrenal insufficiency)\n", + " \n", + " \n", + " Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands.\n", + " definition of HP:0000846 (Adrenal insufficiency)\n", + " \n", + " \n", + " #Hypoadrenalism\n", + " definition of HP:0000846 (Adrenal insufficiency)\n", + " \n", + " \n", + " Broad radial epiphyseal plate\n", + " definition of HP:0004014 (Broad radial epiphyseal plate)\n", + " \n", + " \n", + " Abnormal increase in width of the epiphyseal growth plate of the radius.\n", + " definition of HP:0004014 (Broad radial epiphyseal plate)\n", + " \n", + " \n", + " #Wide radial epiphyseal plates\n", + " definition of HP:0004014 (Broad radial epiphyseal plate)\n", + " \n", + " \n", + " Contracture of the metacarpophalangeal joint of the 2nd finger\n", + " definition of HP:0009539 (Contracture of the metacarpophalangeal joint of the 2nd finger)\n", + " \n", + " \n", + " Chronic loss of joint motion of the metacarpophalangeal joint of the 2nd finger due to structural changes in non-bony tissue.\n", + " definition of HP:0009539 (Contracture of the metacarpophalangeal joint of the 2nd finger)\n", + " \n", + " \n", + " Abnormal fibular epiphysis morphology\n", + " definition of HP:0010593 (Abnormal fibular epiphysis morphology)\n", + " \n", + " \n", + " #Abnormality of fibular epiphyses #Abnormality of the end part of the calf bone\n", + " definition of HP:0010593 (Abnormal fibular epiphysis morphology)\n", + " \n", + " \n", + " Small forehead\n", + " definition of HP:0000350 (Small forehead)\n", + " \n", + " \n", + " The presence of a forehead that is abnormally small.\n", + " definition of HP:0000350 (Small forehead)\n", + " \n", + " \n", + " #Decreased size of forehead #Decreased size of frontal region of face #Small forehead\n", + " definition of HP:0000350 (Small forehead)\n", + " \n", + " \n", + " Abnormal circulating hepatic transaminase concentration\n", + " definition of HP:0430135 (Abnormal circulating hepatic transaminase concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration in the blood circulation of alanine aminotransferase or aspartate aminotransferase.\n", + " definition of HP:0430135 (Abnormal circulating hepatic transaminase concentration)\n", + " \n", + " \n", + " #Abnormal circulating hepatic transaminase activity\n", + " definition of HP:0430135 (Abnormal circulating hepatic transaminase concentration)\n", + " \n", + " \n", + " Glomerular subendothelial electron-dense deposits\n", + " definition of HP:0004746 (Glomerular subendothelial electron-dense deposits)\n", + " \n", + " \n", + " Electron dense deposits at the glomerular basement membrane,\n", + " definition of HP:0004746 (Glomerular subendothelial electron-dense deposits)\n", + " \n", + " \n", + " Absent lower eyelashes\n", + " definition of HP:0007646 (Absent lower eyelashes)\n", + " \n", + " \n", + " Lack of eyelashes on the lower lid.\n", + " definition of HP:0007646 (Absent lower eyelashes)\n", + " \n", + " \n", + " #Absent lower eyelashes #Atrichia of lower eyelashes #Failure of development of lower eyelashes\n", + " definition of HP:0007646 (Absent lower eyelashes)\n", + " \n", + " \n", + " Anagen effluvium\n", + " definition of HP:0025469 (Anagen effluvium)\n", + " \n", + " \n", + " An abnormal loss of anagen (growth phase) hairs.\n", + " definition of HP:0025469 (Anagen effluvium)\n", + " \n", + " \n", + " Probst bundles\n", + " definition of HP:0034054 (Probst bundles)\n", + " \n", + " \n", + " Probst bundles (also known as longitudinal callosal fascicles) are neuroanatomical homologues to the corpus callosum and can occur in association with callosal agenesis. Probst bundles are white matter fibers that normally cross the corpus callosum but (because of the agenesis of the corpus callosum) fail to cross the midline, such that when they reach the corticoseptal boundary, they turn and run parallel to the interhemispheric fissure within the septal leaves, indenting the medial walls of the lateral ventricles.\n", + " definition of HP:0034054 (Probst bundles)\n", + " \n", + " \n", + " Second trimester onset\n", + " definition of HP:0034198 (Second trimester onset)\n", + " \n", + " \n", + " This term refers to a phenotypic feature that was first observed prior to birth during the second trimester, which comprises the range of gestational ages from 14 0/7 weeks to 27 6/7 (inclusive).\n", + " definition of HP:0034198 (Second trimester onset)\n", + " \n", + " \n", + " C3 nephritic factor positivity\n", + " definition of HP:0030888 (C3 nephritic factor positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against C3 convertase (C3bBb).\n", + " definition of HP:0030888 (C3 nephritic factor positivity)\n", + " \n", + " \n", + " Hemolytic anemia\n", + " definition of HP:0001878 (Hemolytic anemia)\n", + " \n", + " \n", + " A type of anemia caused by premature destruction of red blood cells (hemolysis).\n", + " definition of HP:0001878 (Hemolytic anemia)\n", + " \n", + " \n", + " #Haemolytic anaemia #Haemolytic anemia #Hemolytic anaemia #Increased hemolysis\n", + " definition of HP:0001878 (Hemolytic anemia)\n", + " \n", + " \n", + " Multiple small vertebral fractures\n", + " definition of HP:0005877 (Multiple small vertebral fractures)\n", + " \n", + " \n", + " Bronchiolitis obliterans organizing pneumonia\n", + " definition of HP:0011945 (Bronchiolitis obliterans organizing pneumonia)\n", + " \n", + " \n", + " Bronchiolitis obliterans organizing pneumonia (BOOP) is and interstitial lung abnormalitiy characterized histopathologically by plugs of granulation tissue lying within small airways, alveolar ducts, and alveoli and by chronic inflammatory cell infiltration in alveolar walls. Patients with BOOP generally present with subacute illness, including shortness of breath, fever, malaise, and weight loss.\n", + " definition of HP:0011945 (Bronchiolitis obliterans organizing pneumonia)\n", + " \n", + " \n", + " #BOOP #Bronchiolitis obliterans organising pneumonia #Cryptogenic organising pneumonia #Cryptogenic organizing pneumonia\n", + " definition of HP:0011945 (Bronchiolitis obliterans organizing pneumonia)\n", + " \n", + " \n", + " Elevated circulating soluble CD163 concentration\n", + " definition of HP:6000385 (Elevated circulating soluble CD163 concentration)\n", + " \n", + " \n", + " The concentration of Soluble CD163 in the blood circulation is above the upper limit of normal.\n", + " definition of HP:6000385 (Elevated circulating soluble CD163 concentration)\n", + " \n", + " \n", + " Inability to walk\n", + " definition of HP:0002540 (Inability to walk)\n", + " \n", + " \n", + " Incapability to ambulate.\n", + " definition of HP:0002540 (Inability to walk)\n", + " \n", + " \n", + " #Inability to walk #Non-ambulatory\n", + " definition of HP:0002540 (Inability to walk)\n", + " \n", + " \n", + " Focal aware cognitive seizure with conduction dysphasia/aphasia\n", + " definition of HP:0032876 (Focal aware cognitive seizure with conduction dysphasia/aphasia)\n", + " \n", + " \n", + " A focal cognitive seizure with conduction dysphasia / aphasia characterized by retained awareness throughout the seizure.\n", + " definition of HP:0032876 (Focal aware cognitive seizure with conduction dysphasia/aphasia)\n", + " \n", + " \n", + " Ivory epiphysis of the distal phalanx of the 3rd toe\n", + " definition of HP:0100141 (Ivory epiphysis of the distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Increased bone density of end part of the outermost bone of the 3rd toe\n", + " definition of HP:0100141 (Ivory epiphysis of the distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Hypoperistalsis\n", + " definition of HP:0100771 (Hypoperistalsis)\n", + " \n", + " \n", + " Reduced or inadequate peristalsis, with resultant slow passage of contents through the digestive tract.\n", + " definition of HP:0100771 (Hypoperistalsis)\n", + " \n", + " \n", + " Hypoplastic tricuspid valve\n", + " definition of HP:0011573 (Hypoplastic tricuspid valve)\n", + " \n", + " \n", + " Congenital defect characterized by underdevelopment of the tricuspid valve.\n", + " definition of HP:0011573 (Hypoplastic tricuspid valve)\n", + " \n", + " \n", + " #Tricuspid valve hypoplasia #Underdeveloped tricuspid valve\n", + " definition of HP:0011573 (Hypoplastic tricuspid valve)\n", + " \n", + " \n", + " Hydralazine exposure\n", + " definition of HP:4000118 (Hydralazine exposure)\n", + " \n", + " \n", + " History of having taken hydralazine.\n", + " definition of HP:4000118 (Hydralazine exposure)\n", + " \n", + " \n", + " Increased hepatitis B virus antibody level\n", + " definition of HP:0410369 (Increased hepatitis B virus antibody level)\n", + " \n", + " \n", + " An abnormally increased level of immunoglobulin against hepatitis B virus in the blood.\n", + " definition of HP:0410369 (Increased hepatitis B virus antibody level)\n", + " \n", + " \n", + " Aspirin-induced asthma\n", + " definition of HP:0012042 (Aspirin-induced asthma)\n", + " \n", + " \n", + " A type of asthma in which aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) that inhibit cyclooxygen-ase 1 (COX-1) exacerbate bronchoconstriction.\n", + " definition of HP:0012042 (Aspirin-induced asthma)\n", + " \n", + " \n", + " #Aspirin-induced asthma\n", + " definition of HP:0012042 (Aspirin-induced asthma)\n", + " \n", + " \n", + " Anti-Su antigen/argonaute 2 antibody positivity\n", + " definition of HP:0034106 (Anti-Su antigen/argonaute 2 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Su antigen/argonaute 2.\n", + " definition of HP:0034106 (Anti-Su antigen/argonaute 2 antibody positivity)\n", + " \n", + " \n", + " #Anti-Ago2 antibody positivity #Anti-Su antibody positivity\n", + " definition of HP:0034106 (Anti-Su antigen/argonaute 2 antibody positivity)\n", + " \n", + " \n", + " Temporomandibular joint ankylosis\n", + " definition of HP:0012478 (Temporomandibular joint ankylosis)\n", + " \n", + " \n", + " Bony fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening.\n", + " definition of HP:0012478 (Temporomandibular joint ankylosis)\n", + " \n", + " \n", + " #Ankylosis of temporomandibular joint #Freezing of jaw joint #Freezing of the temporomandibular joint #Rigidity of the temporomandibular joint #Temporomandibular joint fusion\n", + " definition of HP:0012478 (Temporomandibular joint ankylosis)\n", + " \n", + " \n", + " Enlarged epiphysis of the middle phalanx of the 3rd toe\n", + " definition of HP:0100149 (Enlarged epiphysis of the middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Enlarged end part of the middle bone of the 3rd toe\n", + " definition of HP:0100149 (Enlarged epiphysis of the middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " Phobia\n", + " definition of HP:5200232 (Phobia)\n", + " \n", + " \n", + " Extreme, irrational, and persistent fears of certain objects, situations, activities, or persons can impede functioning in day-to-day life.\n", + " definition of HP:5200232 (Phobia)\n", + " \n", + " \n", + " Portal hypertension\n", + " definition of HP:0001409 (Portal hypertension)\n", + " \n", + " \n", + " Increased pressure in the portal vein.\n", + " definition of HP:0001409 (Portal hypertension)\n", + " \n", + " \n", + " Partial duplication of the middle phalanx of the 4th toe\n", + " definition of HP:0100420 (Partial duplication of the middle phalanx of the 4th toe)\n", + " \n", + " \n", + " Partial duplication of middle phalanx of fourth toe.\n", + " definition of HP:0100420 (Partial duplication of the middle phalanx of the 4th toe)\n", + " \n", + " \n", + " #Partial duplication of the middle bone of the 4th toe #Partial duplication of the middle phalanx of the fourth toe\n", + " definition of HP:0100420 (Partial duplication of the middle phalanx of the 4th toe)\n", + " \n", + " \n", + " Facial paralysis\n", + " definition of HP:0007209 (Facial paralysis)\n", + " \n", + " \n", + " Complete loss of ability to move facial muscles innervated by the facial nerve (i.e., the seventh cranial nerve).\n", + " definition of HP:0007209 (Facial paralysis)\n", + " \n", + " \n", + " #Facial paralysis #Facial paresis\n", + " definition of HP:0007209 (Facial paralysis)\n", + " \n", + " \n", + " Focal impaired awareness automatism seizure\n", + " definition of HP:0032909 (Focal impaired awareness automatism seizure)\n", + " \n", + " \n", + " A focal seizure with automatism in which awareness is partially or fully impaired at some point during the seizure.\n", + " definition of HP:0032909 (Focal impaired awareness automatism seizure)\n", + " \n", + " \n", + " Alpha-EEG\n", + " definition of HP:0011178 (Alpha-EEG)\n", + " \n", + " \n", + " EEG dominated by diffuse alpha-waves (8-13Hz).\n", + " definition of HP:0011178 (Alpha-EEG)\n", + " \n", + " \n", + " Renal interstitial neutrophil infiltration\n", + " definition of HP:0032584 (Renal interstitial neutrophil infiltration)\n", + " \n", + " \n", + " Increased numbers of neutrophils in the interstitial tissues of the kidney.\n", + " definition of HP:0032584 (Renal interstitial neutrophil infiltration)\n", + " \n", + " \n", + " Dark urine\n", + " definition of HP:0040319 (Dark urine)\n", + " \n", + " \n", + " An abnormal dark color of the urine.\n", + " definition of HP:0040319 (Dark urine)\n", + " \n", + " \n", + " Hypoplasia of the zygomatic bone\n", + " definition of HP:0010669 (Hypoplasia of the zygomatic bone)\n", + " \n", + " \n", + " Underdevelopment of the zygomatic bone. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch.\n", + " definition of HP:0010669 (Hypoplasia of the zygomatic bone)\n", + " \n", + " \n", + " #Cheekbone underdevelopment #Decreased size of cheekbone #Decreased size of zygomatic bone #Hypoplasia of cheekbone #Underdevelopment of cheekbone #Underdevelopment of zygomatic bone\n", + " definition of HP:0010669 (Hypoplasia of the zygomatic bone)\n", + " \n", + " \n", + " Pulmonary infiltrates\n", + " definition of HP:0002113 (Pulmonary infiltrates)\n", + " \n", + " \n", + " #Lung infiltrates #Pulmonic infiltration\n", + " definition of HP:0002113 (Pulmonary infiltrates)\n", + " \n", + " \n", + " Non-polarized mantle zones\n", + " definition of HP:0020265 (Non-polarized mantle zones)\n", + " \n", + " \n", + " Lack of the typical polarization of the outer ring of small lymphocytes (mantle zone) surrounding a germinal center of a lymph node.\n", + " definition of HP:0020265 (Non-polarized mantle zones)\n", + " \n", + " \n", + " Elongated femoral neck\n", + " definition of HP:0033985 (Elongated femoral neck)\n", + " \n", + " \n", + " Increased length of the neck of the femur.\n", + " definition of HP:0033985 (Elongated femoral neck)\n", + " \n", + " \n", + " #Long femoral neck\n", + " definition of HP:0033985 (Elongated femoral neck)\n", + " \n", + " \n", + " Abnormal pituitary stalk morphology\n", + " definition of HP:0034977 (Abnormal pituitary stalk morphology)\n", + " \n", + " \n", + " A structural anomaly of the pituitary stalk, also known as the infundibulum or infundibular stalk, is the connection between the hypothalamus and the pituitary gland.\n", + " definition of HP:0034977 (Abnormal pituitary stalk morphology)\n", + " \n", + " \n", + " Absent styloid process of ulna\n", + " definition of HP:0005068 (Absent styloid process of ulna)\n", + " \n", + " \n", + " Hitchhiker thumb\n", + " definition of HP:0001234 (Hitchhiker thumb)\n", + " \n", + " \n", + " With the hand relaxed and the thumb in the plane of the palm, the axis of the thumb forms an angle of at least 90 degrees with the long axis of the hand.\n", + " definition of HP:0001234 (Hitchhiker thumb)\n", + " \n", + " \n", + " #Abducted thumb #Hitchhiker thumb\n", + " definition of HP:0001234 (Hitchhiker thumb)\n", + " \n", + " \n", + " Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level\n", + " definition of HP:6000469 (Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level)\n", + " \n", + " \n", + " The amount of 2,3-dihydroxy-2-methylbutanoic acidin the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000469 (Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level)\n", + " \n", + " \n", + " #2-methyl-2,3-dihydroxybutyrate high in urine #Elevated urine 2-methyl-2,3-dihydroxybutyrate level\n", + " definition of HP:6000469 (Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level)\n", + " \n", + " \n", + " Bilateral choanal atresia\n", + " definition of HP:0004502 (Bilateral choanal atresia)\n", + " \n", + " \n", + " Bilateral absence (atresia) of the posterior nasal aperture (choana).\n", + " definition of HP:0004502 (Bilateral choanal atresia)\n", + " \n", + " \n", + " #Bilateral blockage of the rear opening of the nasal cavity #Bilateral obstruction of the rear opening of the nasal cavity\n", + " definition of HP:0004502 (Bilateral choanal atresia)\n", + " \n", + " \n", + " Lower eyelid laxity\n", + " definition of HP:0032035 (Lower eyelid laxity)\n", + " \n", + " \n", + " Abnormally lax lower eyelid associated with tissue relaxation.\n", + " definition of HP:0032035 (Lower eyelid laxity)\n", + " \n", + " \n", + " Epispadias\n", + " definition of HP:0000039 (Epispadias)\n", + " \n", + " \n", + " Epispadias is a urogenital malformation characterized by the failure of the urethral tube to tubularize on the dorsal aspect. Unlike in hypospadias, where the meatus is on the ventral aspect, children with epispadias have a wide-open urethral plate on the dorsum. It is commonly seen as a component in the spectrum of bladder exstrophy-epispadias-complex. Isolated epispadias constitutes less than 10 percent of the total cases of epispadias.\n", + " definition of HP:0000039 (Epispadias)\n", + " \n", + " \n", + " EEG with diffuse acceleration\n", + " definition of HP:0011202 (EEG with diffuse acceleration)\n", + " \n", + " \n", + " EEG frequency is abnormally increased.\n", + " definition of HP:0011202 (EEG with diffuse acceleration)\n", + " \n", + " \n", + " Posterior wedging of vertebral bodies\n", + " definition of HP:0008444 (Posterior wedging of vertebral bodies)\n", + " \n", + " \n", + " An abnormality of the shape of vertebrae, such that they are wedge-shaped (narrow towards the back).\n", + " definition of HP:0008444 (Posterior wedging of vertebral bodies)\n", + " \n", + " \n", + " #Posterior wedging\n", + " definition of HP:0008444 (Posterior wedging of vertebral bodies)\n", + " \n", + " \n", + " Bone spicule pigmentation of the retina\n", + " definition of HP:0007737 (Bone spicule pigmentation of the retina)\n", + " \n", + " \n", + " Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone).\n", + " definition of HP:0007737 (Bone spicule pigmentation of the retina)\n", + " \n", + " \n", + " #Bone corpuscle fundus pigmentation #Fundus with peripheral bony spicules #Retinal bone corpuscle pigmentation #Retinal pigmented bone spicules\n", + " definition of HP:0007737 (Bone spicule pigmentation of the retina)\n", + " \n", + " \n", + " Short philtrum\n", + " definition of HP:0000322 (Short philtrum)\n", + " \n", + " \n", + " Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.\n", + " definition of HP:0000322 (Short philtrum)\n", + " \n", + " \n", + " #Decreased height of philtrum #Decreased length of philtrum #Decreased vertical dimension of philtrum #Vertical hypoplasia of philtrum\n", + " definition of HP:0000322 (Short philtrum)\n", + " \n", + " \n", + " Twisted gallbladder pedicle\n", + " definition of HP:6001042 (Twisted gallbladder pedicle)\n", + " \n", + " \n", + " A stretched conical-shaped structure found at the gallbladder neck with several linear echoes converging towards its tip. This finding is demonstrated by sonography and can indicate gallbladder volvulus.\n", + " definition of HP:6001042 (Twisted gallbladder pedicle)\n", + " \n", + " \n", + " #Conical structure at the gallbladder neck\n", + " definition of HP:6001042 (Twisted gallbladder pedicle)\n", + " \n", + " \n", + " Poor speech\n", + " definition of HP:0002465 (Poor speech)\n", + " \n", + " \n", + " #Poor speech\n", + " definition of HP:0002465 (Poor speech)\n", + " \n", + " \n", + " Abnormality of the Achilles tendon\n", + " definition of HP:0005109 (Abnormality of the Achilles tendon)\n", + " \n", + " \n", + " An abnormality of the Achilles tendon.\n", + " definition of HP:0005109 (Abnormality of the Achilles tendon)\n", + " \n", + " \n", + " #Abnormality of the Achilles tendon #Abnormality of the calcaneal tendon\n", + " definition of HP:0005109 (Abnormality of the Achilles tendon)\n", + " \n", + " \n", + " Complete duplication of the distal phalanx of the hallux\n", + " definition of HP:0010096 (Complete duplication of the distal phalanx of the hallux)\n", + " \n", + " \n", + " #Complete duplication of the outermost bone of the big toe\n", + " definition of HP:0010096 (Complete duplication of the distal phalanx of the hallux)\n", + " \n", + " \n", + " Ameliorated by\n", + " definition of HP:0025254 (Ameliorated by)\n", + " \n", + " \n", + " An ameliorating factor is defined as an external factor that leads to a sign or symptom that is already present improving or becoming more bearable\n", + " definition of HP:0025254 (Ameliorated by)\n", + " \n", + " \n", + " #Improved by\n", + " definition of HP:0025254 (Ameliorated by)\n", + " \n", + " \n", + " Ophthalmoparesis\n", + " definition of HP:0000597 (Ophthalmoparesis)\n", + " \n", + " \n", + " Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement.\n", + " definition of HP:0000597 (Ophthalmoparesis)\n", + " \n", + " \n", + " #Extraocular muscle palsy #Extraocular muscle paralysis #Weakness of extraocular eye movement #Weakness of muscles controlling eye movement\n", + " definition of HP:0000597 (Ophthalmoparesis)\n", + " \n", + " \n", + " Midline brainstem cleft\n", + " definition of HP:0033645 (Midline brainstem cleft)\n", + " \n", + " \n", + " A developmental defect characterized by an abnormal cleft (V-shaped indentation of the stalklike part of the brain consisting of the medulla oblongata, the midbrain, and the pons.\n", + " definition of HP:0033645 (Midline brainstem cleft)\n", + " \n", + " \n", + " Enlarged epiphysis of the proximal phalanx of the hallux\n", + " definition of HP:0010130 (Enlarged epiphysis of the proximal phalanx of the hallux)\n", + " \n", + " \n", + " #Enlarged end part of the innermost bone of the big toe\n", + " definition of HP:0010130 (Enlarged epiphysis of the proximal phalanx of the hallux)\n", + " \n", + " \n", + " Short distal phalanx of the 4th toe\n", + " definition of HP:0100390 (Short distal phalanx of the 4th toe)\n", + " \n", + " \n", + " Developmental hypoplasia of the distal phalanx of fourth toe.\n", + " definition of HP:0100390 (Short distal phalanx of the 4th toe)\n", + " \n", + " \n", + " #Hypoplastic/small distal phalanx of the 4th toe #Short distal phalanx of the fourth toe #Short outermost bone of the 4th toe\n", + " definition of HP:0100390 (Short distal phalanx of the 4th toe)\n", + " \n", + " \n", + " Hemiatrophy\n", + " definition of HP:0100556 (Hemiatrophy)\n", + " \n", + " \n", + " Undergrowth of the limbs that affects only one side.\n", + " definition of HP:0100556 (Hemiatrophy)\n", + " \n", + " \n", + " #Asymmetric limb shortening #Hemiatrophy of the body\n", + " definition of HP:0100556 (Hemiatrophy)\n", + " \n", + " \n", + " Partially duplicated kidney\n", + " definition of HP:0008738 (Partially duplicated kidney)\n", + " \n", + " \n", + " The presence of a partially duplicated kidney.\n", + " definition of HP:0008738 (Partially duplicated kidney)\n", + " \n", + " \n", + " #Partially duplicated kidney\n", + " definition of HP:0008738 (Partially duplicated kidney)\n", + " \n", + " \n", + " Skin infectious agent\n", + " definition of HP:0034640 (Skin infectious agent)\n", + " \n", + " \n", + " The presence of an infectious agent in the skin.\n", + " definition of HP:0034640 (Skin infectious agent)\n", + " \n", + " \n", + " Muscle fiber atrophy\n", + " definition of HP:0100295 (Muscle fiber atrophy)\n", + " \n", + " \n", + " #Muscle fiber atrophy #Muscle fiber degeneration #Muscle fibre degeneration\n", + " definition of HP:0100295 (Muscle fiber atrophy)\n", + " \n", + " \n", + " Thick cerebral cortex\n", + " definition of HP:0006891 (Thick cerebral cortex)\n", + " \n", + " \n", + " Central thinning of the outer nuclear layer of the retina\n", + " definition of HP:6000367 (Central thinning of the outer nuclear layer of the retina)\n", + " \n", + " \n", + " Reduced thickness of the outer nuclear layer in the middle region of the retina. The outer nuclear layer (ONL) of the retina contains the nuclei of the cone and rod photoreceptors. Loss of the cellular machinery found in these nuclei causes irreparable loss of the photoreceptors and the capacity for visual function. This feature can be appreciated by directional optical coherence tomography.\n", + " definition of HP:6000367 (Central thinning of the outer nuclear layer of the retina)\n", + " \n", + " \n", + " #Central thinning of the ONL\n", + " definition of HP:6000367 (Central thinning of the outer nuclear layer of the retina)\n", + " \n", + " \n", + " Immune dysregulation\n", + " definition of HP:0002958 (Immune dysregulation)\n", + " \n", + " \n", + " Altered immune function characterized by lymphoid proliferation, immune activation, and excessive autoreactivity often leading to autoimmune/inflammatory complications.\n", + " definition of HP:0002958 (Immune dysregulation)\n", + " \n", + " \n", + " #Immune dysregulation #Unregulated immune response\n", + " definition of HP:0002958 (Immune dysregulation)\n", + " \n", + " \n", + " Ankle contracture\n", + " definition of HP:0034677 (Ankle contracture)\n", + " \n", + " \n", + " Orthostatic tachycardia\n", + " definition of HP:0012173 (Orthostatic tachycardia)\n", + " \n", + " \n", + " An increase in heart rate with standing of 30 beats per minute or more.\n", + " definition of HP:0012173 (Orthostatic tachycardia)\n", + " \n", + " \n", + " #Postural tachycardia\n", + " definition of HP:0012173 (Orthostatic tachycardia)\n", + " \n", + " \n", + " Addictive nitrous oxide use\n", + " definition of HP:4000128 (Addictive nitrous oxide use)\n", + " \n", + " \n", + " Addiction to inhaled nitrous oxide gas (N2O) is a growing concern.\n", + " definition of HP:4000128 (Addictive nitrous oxide use)\n", + " \n", + " \n", + " #Nitrous oxide abuse #Nitrous oxide addiction\n", + " definition of HP:4000128 (Addictive nitrous oxide use)\n", + " \n", + " \n", + " Puerpural onset\n", + " definition of HP:4000040 (Puerpural onset)\n", + " \n", + " \n", + " Onset of a phenotypic abnormality or a disease during childbirth or in the period immediately following.\n", + " definition of HP:4000040 (Puerpural onset)\n", + " \n", + " \n", + " Limb fasciculations\n", + " definition of HP:0007289 (Limb fasciculations)\n", + " \n", + " \n", + " Fasciculations affecting the musculature of the arms and legs.\n", + " definition of HP:0007289 (Limb fasciculations)\n", + " \n", + " \n", + " #Limb fasciculation\n", + " definition of HP:0007289 (Limb fasciculations)\n", + " \n", + " \n", + " Large joint dislocations\n", + " definition of HP:0005008 (Large joint dislocations)\n", + " \n", + " \n", + " #Large joint dislocations\n", + " definition of HP:0005008 (Large joint dislocations)\n", + " \n", + " \n", + " Undetectable dark-adapted electroretinogram\n", + " definition of HP:0030474 (Undetectable dark-adapted electroretinogram)\n", + " \n", + " \n", + " Enlarged epiphysis of the proximal phalanx of the thumb\n", + " definition of HP:0009667 (Enlarged epiphysis of the proximal phalanx of the thumb)\n", + " \n", + " \n", + " Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.\n", + " definition of HP:0009667 (Enlarged epiphysis of the proximal phalanx of the thumb)\n", + " \n", + " \n", + " #Enlarged end part of thumb innermost long bone\n", + " definition of HP:0009667 (Enlarged epiphysis of the proximal phalanx of the thumb)\n", + " \n", + " \n", + " Coarctation in the transverse aortic arch\n", + " definition of HP:0031053 (Coarctation in the transverse aortic arch)\n", + " \n", + " \n", + " Narrowing or constriction of the aorta localized to the region of the transverse aortic arch.\n", + " definition of HP:0031053 (Coarctation in the transverse aortic arch)\n", + " \n", + " \n", + " Elevated urine kynurenine level\n", + " definition of HP:0034461 (Elevated urine kynurenine level)\n", + " \n", + " \n", + " An abnormally increased amount of kynurenine in the urine.\n", + " definition of HP:0034461 (Elevated urine kynurenine level)\n", + " \n", + " \n", + " #Kynurenine high in urine\n", + " definition of HP:0034461 (Elevated urine kynurenine level)\n", + " \n", + " \n", + " Ameloblastoma\n", + " definition of HP:0034515 (Ameloblastoma)\n", + " \n", + " \n", + " Ameloblastoma is a benign odontogenic tumor generally present in the jaw bone. The tumor originates from the residual epithelium of the tooth germ, epithelium of odontogenic cysts stratified squamous epithelium and epithelium of the enamel organ.\n", + " definition of HP:0034515 (Ameloblastoma)\n", + " \n", + " \n", + " Partial fusion of carpals\n", + " definition of HP:0006207 (Partial fusion of carpals)\n", + " \n", + " \n", + " Bilateral tonic-clonic seizure with focal onset\n", + " definition of HP:0007334 (Bilateral tonic-clonic seizure with focal onset)\n", + " \n", + " \n", + " A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase.\n", + " definition of HP:0007334 (Bilateral tonic-clonic seizure with focal onset)\n", + " \n", + " \n", + " #Focal seizure with secondary generalisation #Focal seizure with secondary generalization #Focal to bilateral tonic-clonic seizure #Generalised tonic-clonic seizure with focal onset #Generalised tonic-clonic seizure with partial onset #Generalised tonic-clonic seizures with focal onset #Generalized tonic-clonic seizure with focal onset #Generalized tonic-clonic seizure with partial onset #Generalized tonic-clonic seizures with focal onset #Partial seizure with secondary generalisation #Partial seizure with secondary generalization #Partial seizures with secondary generalisation #Partial seizures with secondary generalization #Secondarily generalised tonic-clonic seizure #Secondarily generalised tonic-clonic seizures #Secondarily generalized tonic-clonic seizure #Secondarily generalized tonic-clonic seizures #Secondary generalised tonic clonic seizures #Secondary generalised tonic-clonic seizures #Secondary generalized tonic clonic seizures #Secondary generalized tonic-clonic seizures\n", + " definition of HP:0007334 (Bilateral tonic-clonic seizure with focal onset)\n", + " \n", + " \n", + " Ectodermal dysplasia\n", + " definition of HP:0000968 (Ectodermal dysplasia)\n", + " \n", + " \n", + " Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands.\n", + " definition of HP:0000968 (Ectodermal dysplasia)\n", + " \n", + " \n", + " Unossified vertebral bodies\n", + " definition of HP:0004606 (Unossified vertebral bodies)\n", + " \n", + " \n", + " A lack of ossification of the vertebral bodies.\n", + " definition of HP:0004606 (Unossified vertebral bodies)\n", + " \n", + " \n", + " Declarative memory loss\n", + " definition of HP:0033692 (Declarative memory loss)\n", + " \n", + " \n", + " Impaired ability to remember facts and events.\n", + " definition of HP:0033692 (Declarative memory loss)\n", + " \n", + " \n", + " #Impaired declarative memory\n", + " definition of HP:0033692 (Declarative memory loss)\n", + " \n", + " \n", + " Steppage gait\n", + " definition of HP:0003376 (Steppage gait)\n", + " \n", + " \n", + " An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again.\n", + " definition of HP:0003376 (Steppage gait)\n", + " \n", + " \n", + " #High stepping\n", + " definition of HP:0003376 (Steppage gait)\n", + " \n", + " \n", + " Small fetal abdominal circumference\n", + " definition of HP:6000339 (Small fetal abdominal circumference)\n", + " \n", + " \n", + " The distance around the abdomen of a fetus, generally as measured by prenatal sonography, is below the lower limit of normal.\n", + " definition of HP:6000339 (Small fetal abdominal circumference)\n", + " \n", + " \n", + " Macronodular cirrhosis\n", + " definition of HP:0006577 (Macronodular cirrhosis)\n", + " \n", + " \n", + " A type of cirrhosis characterized by the presence of large regenerative nodules.\n", + " definition of HP:0006577 (Macronodular cirrhosis)\n", + " \n", + " \n", + " Abnormal bulbus cordis morphology\n", + " definition of HP:0032580 (Abnormal bulbus cordis morphology)\n", + " \n", + " \n", + " Abnormal structure of the bulbus cordis, which is the single outflow tract of the heart during early embryogenesis.\n", + " definition of HP:0032580 (Abnormal bulbus cordis morphology)\n", + " \n", + " \n", + " Liver rupture\n", + " definition of HP:6000998 (Liver rupture)\n", + " \n", + " \n", + " Subcapsular hepatic rupture is characterized by the development of a hematoma, often quite large, beneath the liver capsule. An interval of days or hours may elapse between the time of injury and the first appearance of symptoms. A history of injury may be entirely lacking, or may be so unremarkable that it is elicited only by diligent interrogation. The hematoma tends to increase in size.\n", + " definition of HP:6000998 (Liver rupture)\n", + " \n", + " \n", + " Frontal venous angioma\n", + " definition of HP:0012482 (Frontal venous angioma)\n", + " \n", + " \n", + " A venous angioma of the frontal lobe of the brain.\n", + " definition of HP:0012482 (Frontal venous angioma)\n", + " \n", + " \n", + " Abnormality of the pineal gland\n", + " definition of HP:0012680 (Abnormality of the pineal gland)\n", + " \n", + " \n", + " An anomaly of the pineal gland,a small endocrine gland in the brain that produces melatonin.\n", + " definition of HP:0012680 (Abnormality of the pineal gland)\n", + " \n", + " \n", + " 6-layered lissencephaly\n", + " definition of HP:0032475 (6-layered lissencephaly)\n", + " \n", + " \n", + " EEG with centrotemporal epileptiform discharges\n", + " definition of HP:0033721 (EEG with centrotemporal epileptiform discharges)\n", + " \n", + " \n", + " Focal epileptiform EEG discharges recorded in the centrotemporal region.\n", + " definition of HP:0033721 (EEG with centrotemporal epileptiform discharges)\n", + " \n", + " \n", + " Abnormal manual kinetic perimetry test\n", + " definition of HP:0030593 (Abnormal manual kinetic perimetry test)\n", + " \n", + " \n", + " Glomerular capillary congestion\n", + " definition of HP:0033270 (Glomerular capillary congestion)\n", + " \n", + " \n", + " Global distention of glomerular capillaries with intraluminal intact red blood cells.\n", + " definition of HP:0033270 (Glomerular capillary congestion)\n", + " \n", + " \n", + " #Glomerular congestion\n", + " definition of HP:0033270 (Glomerular capillary congestion)\n", + " \n", + " \n", + " Morbus Osgood-Schlatter\n", + " definition of HP:0010890 (Morbus Osgood-Schlatter)\n", + " \n", + " \n", + " Morbus Osgood-Schlatter is a Juvenile aseptic necrosis affecting the Tuberositas tibiae.\n", + " definition of HP:0010890 (Morbus Osgood-Schlatter)\n", + " \n", + " \n", + " #Osgood Schlatter disease\n", + " definition of HP:0010890 (Morbus Osgood-Schlatter)\n", + " \n", + " \n", + " Occipital neuralgia\n", + " definition of HP:0012318 (Occipital neuralgia)\n", + " \n", + " \n", + " A distinct type of headache characterized by piercing, throbbing, or electric-shock-like chronic pain in the upper neck, back of the head, and behind the ears, usually on one side.\n", + " definition of HP:0012318 (Occipital neuralgia)\n", + " \n", + " \n", + " Accessory scaphoid\n", + " definition of HP:0004244 (Accessory scaphoid)\n", + " \n", + " \n", + " Venom allergy\n", + " definition of HP:0410336 (Venom allergy)\n", + " \n", + " \n", + " Hypersensitivity in form of an adverse immune reaction against insect venom.\n", + " definition of HP:0410336 (Venom allergy)\n", + " \n", + " \n", + " #Allergy to venom #IgE-mediated venom allergy #Immunoglobulin E-mediated venom allergy #Venom allergy\n", + " definition of HP:0410336 (Venom allergy)\n", + " \n", + " \n", + " Premature thelarche\n", + " definition of HP:0010314 (Premature thelarche)\n", + " \n", + " \n", + " Premature development of the breasts.\n", + " definition of HP:0010314 (Premature thelarche)\n", + " \n", + " \n", + " #Premature breast development\n", + " definition of HP:0010314 (Premature thelarche)\n", + " \n", + " \n", + " Brain localization\n", + " definition of HP:0430127 (Brain localization)\n", + " \n", + " \n", + " The pattern by which a phenotype is localized to or predominant in a part of the brain.\n", + " definition of HP:0430127 (Brain localization)\n", + " \n", + " \n", + " Increased sputum production\n", + " definition of HP:0033709 (Increased sputum production)\n", + " \n", + " \n", + " An increase in the amount of airway mucus. This feature may be characterized by frequent or excessive throat clearing (exhalation through tightly constricted laryngopharyngeal tissues accompanied by vibration of the palatoglossal arch and the vocal folds serving to clear mucus from the airway).\n", + " definition of HP:0033709 (Increased sputum production)\n", + " \n", + " \n", + " #Increased phlegm\n", + " definition of HP:0033709 (Increased sputum production)\n", + " \n", + " \n", + " Abnormal connection of the cardiac segments\n", + " definition of HP:0011545 (Abnormal connection of the cardiac segments)\n", + " \n", + " \n", + " A deviance in the normal connections between two cardiac segments.\n", + " definition of HP:0011545 (Abnormal connection of the cardiac segments)\n", + " \n", + " \n", + " #Abnormal connexion of the cardiac segments #Discordant connection of the cardiac segments\n", + " definition of HP:0011545 (Abnormal connection of the cardiac segments)\n", + " \n", + " \n", + " Neonatal multifocal myoclonic seizure\n", + " definition of HP:0032816 (Neonatal multifocal myoclonic seizure)\n", + " \n", + " \n", + " Neonatal multifocal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) that occurs at multiple sites.\n", + " definition of HP:0032816 (Neonatal multifocal myoclonic seizure)\n", + " \n", + " \n", + " Focal cognitive seizure with auditory agnosia\n", + " definition of HP:0032685 (Focal cognitive seizure with auditory agnosia)\n", + " \n", + " \n", + " A focal cognitive seizure characterized by auditory agnosia as the initial semiological manifestation. For example a person may hear a ringing sound, but may not connect this with the concept that the sound is from a telephone ringing.\n", + " definition of HP:0032685 (Focal cognitive seizure with auditory agnosia)\n", + " \n", + " \n", + " Translamellar mucoid extracellular matrix accumulation\n", + " definition of HP:0032082 (Translamellar mucoid extracellular matrix accumulation)\n", + " \n", + " \n", + " A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix alters the arrangement of the lamellar units to varying degrees.\n", + " definition of HP:0032082 (Translamellar mucoid extracellular matrix accumulation)\n", + " \n", + " \n", + " Anal margin Paget's disease\n", + " definition of HP:0030441 (Anal margin Paget's disease)\n", + " \n", + " \n", + " An intraepithelial adenocarcinoma originating in the anal margin and characterized by presence of typical Paget's cells, appearing as large rounded vacuolated cells.\n", + " definition of HP:0030441 (Anal margin Paget's disease)\n", + " \n", + " \n", + " Best corrected visual acuity 3.0 LogMAR\n", + " definition of HP:0030568 (Best corrected visual acuity 3.0 LogMAR)\n", + " \n", + " \n", + " Corneal crystals\n", + " definition of HP:0000531 (Corneal crystals)\n", + " \n", + " \n", + " #Corneal deposits\n", + " definition of HP:0000531 (Corneal crystals)\n", + " \n", + " \n", + " Duodenal arteriovenous malformation\n", + " definition of HP:0031342 (Duodenal arteriovenous malformation)\n", + " \n", + " \n", + " An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the duodenum.\n", + " definition of HP:0031342 (Duodenal arteriovenous malformation)\n", + " \n", + " \n", + " Congenital alveolar dysplasia\n", + " definition of HP:0033210 (Congenital alveolar dysplasia)\n", + " \n", + " \n", + " Arrest of lung development in the cananicular stage (weeks 18 to 26 of human gestation) resulting in simplified acinar spaces, frequently with abundant intervening mesenchyme and no alveoli. In later arrest growth stages early saccular formations may be seen. May resemble the lobular maldevelopment often seen in alveolar capillary dysplasia/misaligment of the pulmonary veins without vein misalignment or marked hypertensive changes of the pulmonary arteries.\n", + " definition of HP:0033210 (Congenital alveolar dysplasia)\n", + " \n", + " \n", + " Infertility\n", + " definition of HP:0000789 (Infertility)\n", + " \n", + " \n", + " #Infertility\n", + " definition of HP:0000789 (Infertility)\n", + " \n", + " \n", + " Apical\n", + " definition of HP:0033820 (Apical)\n", + " \n", + " \n", + " Applies to an abnormality whose distribution and appearance are located at the apex of an organ. For instance, apical refers to the superior portion of the lung.\n", + " definition of HP:0033820 (Apical)\n", + " \n", + " \n", + " Podagra\n", + " definition of HP:0001854 (Podagra)\n", + " \n", + " \n", + " Gout affecting the Metatarsophalangeal joint of big toe.\n", + " definition of HP:0001854 (Podagra)\n", + " \n", + " \n", + " #Gout of big toe\n", + " definition of HP:0001854 (Podagra)\n", + " \n", + " \n", + " Abnormality of hand joint mobility\n", + " definition of HP:0006256 (Abnormality of hand joint mobility)\n", + " \n", + " \n", + " #Abnormality of hand joint mobility\n", + " definition of HP:0006256 (Abnormality of hand joint mobility)\n", + " \n", + " \n", + " Sleep terror\n", + " definition of HP:0030765 (Sleep terror)\n", + " \n", + " \n", + " Episodes of intense fear, screaming, and flailing occur even though the affected individuals are still asleep.\n", + " definition of HP:0030765 (Sleep terror)\n", + " \n", + " \n", + " #Night terror #Pavor nocturnus #Sleep terrors\n", + " definition of HP:0030765 (Sleep terror)\n", + " \n", + " \n", + " Ectopic lacrimal punctum\n", + " definition of HP:0010748 (Ectopic lacrimal punctum)\n", + " \n", + " \n", + " Positioning of a lacrimal punctum other than at the medial margins of the eyelid.\n", + " definition of HP:0010748 (Ectopic lacrimal punctum)\n", + " \n", + " \n", + " #Abnormal position of the lacrimal punctum\n", + " definition of HP:0010748 (Ectopic lacrimal punctum)\n", + " \n", + " \n", + " Nocturnal\n", + " definition of HP:0025301 (Nocturnal)\n", + " \n", + " \n", + " Applies to an abnormality that occurs in or is exacerbated during the night.\n", + " definition of HP:0025301 (Nocturnal)\n", + " \n", + " \n", + " Vulvodynia\n", + " definition of HP:0030943 (Vulvodynia)\n", + " \n", + " \n", + " Pain in the vulvar area\n", + " definition of HP:0030943 (Vulvodynia)\n", + " \n", + " \n", + " #Vulvar pain\n", + " definition of HP:0030943 (Vulvodynia)\n", + " \n", + " \n", + " Extrafoveal choroidal neovascularization\n", + " definition of HP:0031239 (Extrafoveal choroidal neovascularization)\n", + " \n", + " \n", + " A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 200 to 1500 micrometers from the center of the fovea.\n", + " definition of HP:0031239 (Extrafoveal choroidal neovascularization)\n", + " \n", + " \n", + " Abnormality of the periorbital region\n", + " definition of HP:0000606 (Abnormality of the periorbital region)\n", + " \n", + " \n", + " An abnormality of the region situated around the orbit of the eye.\n", + " definition of HP:0000606 (Abnormality of the periorbital region)\n", + " \n", + " \n", + " Impairment of activities of daily living\n", + " definition of HP:0031058 (Impairment of activities of daily living)\n", + " \n", + " \n", + " Difficulty in performing one or more activities normally performed every day, such as eating, bathing, dressing, grooming, work, homemaking, and leisure.\n", + " definition of HP:0031058 (Impairment of activities of daily living)\n", + " \n", + " \n", + " Abnormal lower lip morphology\n", + " definition of HP:0000178 (Abnormal lower lip morphology)\n", + " \n", + " \n", + " An abnormality of the lower lip.\n", + " definition of HP:0000178 (Abnormal lower lip morphology)\n", + " \n", + " \n", + " #Abnormality of lower lip\n", + " definition of HP:0000178 (Abnormal lower lip morphology)\n", + " \n", + " \n", + " Urethral stenosis\n", + " definition of HP:0008661 (Urethral stenosis)\n", + " \n", + " \n", + " Abnormal narrowing of the urethra.\n", + " definition of HP:0008661 (Urethral stenosis)\n", + " \n", + " \n", + " #Narrowing of the urethra\n", + " definition of HP:0008661 (Urethral stenosis)\n", + " \n", + " \n", + " Sparse medial eyebrow\n", + " definition of HP:0025325 (Sparse medial eyebrow)\n", + " \n", + " \n", + " Decreased density/number and/or decreased diameter of medial eyebrow hairs.\n", + " definition of HP:0025325 (Sparse medial eyebrow)\n", + " \n", + " \n", + " #Medial thinning of eyebrow\n", + " definition of HP:0025325 (Sparse medial eyebrow)\n", + " \n", + " \n", + " Cyst of the eyelid\n", + " definition of HP:0010604 (Cyst of the eyelid)\n", + " \n", + " \n", + " #Cyst of the eyelid #Eyelid bump #Eyelid mass\n", + " definition of HP:0010604 (Cyst of the eyelid)\n", + " \n", + " \n", + " Small scaphoid\n", + " definition of HP:0004247 (Small scaphoid)\n", + " \n", + " \n", + " Underdevelopment of the scaphoid.\n", + " definition of HP:0004247 (Small scaphoid)\n", + " \n", + " \n", + " Increased circulating interleukin 12 concentration\n", + " definition of HP:0034487 (Increased circulating interleukin 12 concentration)\n", + " \n", + " \n", + " An increased concentration of interleukin-12 in the blood circulation.\n", + " definition of HP:0034487 (Increased circulating interleukin 12 concentration)\n", + " \n", + " \n", + " #IL-12 high in blood\n", + " definition of HP:0034487 (Increased circulating interleukin 12 concentration)\n", + " \n", + " \n", + " Abnormal circulating non-proteinogenic amino acid concentration\n", + " definition of HP:0033109 (Abnormal circulating non-proteinogenic amino acid concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration in the blood circulation of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids.\n", + " definition of HP:0033109 (Abnormal circulating non-proteinogenic amino acid concentration)\n", + " \n", + " \n", + " Vocal cord paresis\n", + " definition of HP:0001604 (Vocal cord paresis)\n", + " \n", + " \n", + " Decreased strength of the vocal folds.\n", + " definition of HP:0001604 (Vocal cord paresis)\n", + " \n", + " \n", + " #Hoarse voice due to vocal cord paresis #Vocal cord paresis in severe cases #Weakness of the vocal cords\n", + " definition of HP:0001604 (Vocal cord paresis)\n", + " \n", + " \n", + " Cerebellar granular layer atrophy\n", + " definition of HP:0012080 (Cerebellar granular layer atrophy)\n", + " \n", + " \n", + " Atrophy of the cerebellum affecting primarily the granular cell layer.\n", + " definition of HP:0012080 (Cerebellar granular layer atrophy)\n", + " \n", + " \n", + " Bracket epiphyses of the 2nd finger\n", + " definition of HP:0009489 (Bracket epiphyses of the 2nd finger)\n", + " \n", + " \n", + " An abnormality of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.\n", + " definition of HP:0009489 (Bracket epiphyses of the 2nd finger)\n", + " \n", + " \n", + " #Bracket shaped end part of index finger #Bracket-epiphyses of index finger\n", + " definition of HP:0009489 (Bracket epiphyses of the 2nd finger)\n", + " \n", + " \n", + " Submucous cleft lip\n", + " definition of HP:0009101 (Submucous cleft lip)\n", + " \n", + " \n", + " A cleft of the lip with overlying mucous membrane.\n", + " definition of HP:0009101 (Submucous cleft lip)\n", + " \n", + " \n", + " #Submucous labial cleft\n", + " definition of HP:0009101 (Submucous cleft lip)\n", + " \n", + " \n", + " Motor impersistence\n", + " definition of HP:0040200 (Motor impersistence)\n", + " \n", + " \n", + " The inability to maintain postures or positions (such as keeping eyes closed, protruding the tongue, maintaining conjugate gaze steadily in a fixed direction, or making a prolonged 'ah' sound) without repeated prompts.\n", + " definition of HP:0040200 (Motor impersistence)\n", + " \n", + " \n", + " #Negative chorea\n", + " definition of HP:0040200 (Motor impersistence)\n", + " \n", + " \n", + " Abnormality of the distal phalanx of the 4th finger\n", + " definition of HP:0009282 (Abnormality of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " #Abnormality of the outermost bone of ring finger\n", + " definition of HP:0009282 (Abnormality of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " Abnormal pubic bone morphology\n", + " definition of HP:0003172 (Abnormal pubic bone morphology)\n", + " \n", + " \n", + " An anomaly of the the pubic bone, i.e., of the ventral and anterior of the three principal components (pubis, ilium, ischium) of the hip bone.\n", + " definition of HP:0003172 (Abnormal pubic bone morphology)\n", + " \n", + " \n", + " #Abnormality of the pubic bone #Abnormality of the pubic bones #Abnormality of the pubis\n", + " definition of HP:0003172 (Abnormal pubic bone morphology)\n", + " \n", + " \n", + " Inferior oblique muscle overaction\n", + " definition of HP:0025599 (Inferior oblique muscle overaction)\n", + " \n", + " \n", + " A common ocular motility disorder characterized by vertical incomitance of the eyes in lateral gaze. In primary inferior oblique muscle overaction, an upshoot of the adducting eye occurs when gaze is directed into the field of action of the inferior oblique muscle, producing a greater upward excursion of the adducted eye than of the abducted eye.\n", + " definition of HP:0025599 (Inferior oblique muscle overaction)\n", + " \n", + " \n", + " Lipoma of the tongue\n", + " definition of HP:0030815 (Lipoma of the tongue)\n", + " \n", + " \n", + " A lipoma localized to the tongue. May present as a nontender, soft, spherical mass of the tongue.\n", + " definition of HP:0030815 (Lipoma of the tongue)\n", + " \n", + " \n", + " #Tongue lipoma\n", + " definition of HP:0030815 (Lipoma of the tongue)\n", + " \n", + " \n", + " Pigmentation of the sclera\n", + " definition of HP:0007832 (Pigmentation of the sclera)\n", + " \n", + " \n", + " Abnormal foramen magnum morphology\n", + " definition of HP:0002699 (Abnormal foramen magnum morphology)\n", + " \n", + " \n", + " Any abnormality of the foramen magnum.\n", + " definition of HP:0002699 (Abnormal foramen magnum morphology)\n", + " \n", + " \n", + " #Abnormality of the foramen magnum\n", + " definition of HP:0002699 (Abnormal foramen magnum morphology)\n", + " \n", + " \n", + " Alveolar cell carcinoma\n", + " definition of HP:0006519 (Alveolar cell carcinoma)\n", + " \n", + " \n", + " Adenocarcinoma of the Bronchus.\n", + " definition of HP:0006519 (Alveolar cell carcinoma)\n", + " \n", + " \n", + " Hip pain\n", + " definition of HP:0030838 (Hip pain)\n", + " \n", + " \n", + " An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the hip.\n", + " definition of HP:0030838 (Hip pain)\n", + " \n", + " \n", + " #Hip pain\n", + " definition of HP:0030838 (Hip pain)\n", + " \n", + " \n", + " Antecubital pterygium\n", + " definition of HP:0009760 (Antecubital pterygium)\n", + " \n", + " \n", + " Pterygium affecting the elbow. This is a cutaneous web that can lead to severe flexion contracture of the elbow joint. Antecubital pterygium can be unilateral, bilateral, symmetric, or asysmmetric.\n", + " definition of HP:0009760 (Antecubital pterygium)\n", + " \n", + " \n", + " #Pterygium cubitale #Webbed elbow\n", + " definition of HP:0009760 (Antecubital pterygium)\n", + " \n", + " \n", + " Juvenile myelomonocytic leukemia\n", + " definition of HP:0012209 (Juvenile myelomonocytic leukemia)\n", + " \n", + " \n", + " Juvenile myelomonocytic leukemia (JMML) is a lethal myeloproliferative disease of young childhood characterized clinically by overproduction of myelomonocytic cells and by the in vitro phenotype of hematopoietic progenitor hypersensitivity to granulocyte-macrophage colony-stimulating factor.\n", + " definition of HP:0012209 (Juvenile myelomonocytic leukemia)\n", + " \n", + " \n", + " #Juvenile myelomonocytic leukaemia\n", + " definition of HP:0012209 (Juvenile myelomonocytic leukemia)\n", + " \n", + " \n", + " Ivory epiphyses of the 2nd finger\n", + " definition of HP:0009494 (Ivory epiphyses of the 2nd finger)\n", + " \n", + " \n", + " Sclerosis of the epiphyses of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.\n", + " definition of HP:0009494 (Ivory epiphyses of the 2nd finger)\n", + " \n", + " \n", + " #Increased bone density of end part of the index finger bone\n", + " definition of HP:0009494 (Ivory epiphyses of the 2nd finger)\n", + " \n", + " \n", + " Aplastic zygomatic arch\n", + " definition of HP:0034260 (Aplastic zygomatic arch)\n", + " \n", + " \n", + " Developmental defect characterized by the absence of the zygomatic arch.\n", + " definition of HP:0034260 (Aplastic zygomatic arch)\n", + " \n", + " \n", + " Extrahepatic biliary duct atresia\n", + " definition of HP:0005242 (Extrahepatic biliary duct atresia)\n", + " \n", + " \n", + " Atresia in the extrahepatic bile duct.\n", + " definition of HP:0005242 (Extrahepatic biliary duct atresia)\n", + " \n", + " \n", + " #Biliary atresia, extrahepatic\n", + " definition of HP:0005242 (Extrahepatic biliary duct atresia)\n", + " \n", + " \n", + " Abnormal urinary bile acid level\n", + " definition of HP:6000524 (Abnormal urinary bile acid level)\n", + " \n", + " \n", + " The amount of bile acids in the urine, normalized for urine concentration, is outside the limits of normal.\n", + " definition of HP:6000524 (Abnormal urinary bile acid level)\n", + " \n", + " \n", + " Platypnea\n", + " definition of HP:0033368 (Platypnea)\n", + " \n", + " \n", + " A type of dyspnea that occurs when the affected person changes from a recumbent to an upright position.\n", + " definition of HP:0033368 (Platypnea)\n", + " \n", + " \n", + " Hypnopompic sleep paralysis\n", + " definition of HP:5200353 (Hypnopompic sleep paralysis)\n", + " \n", + " \n", + " Sleep paralysis that occurs when waking up from sleep.\n", + " definition of HP:5200353 (Hypnopompic sleep paralysis)\n", + " \n", + " \n", + " #Inability to move while awakening #Postdormital paralysis #Postdormital sleep paralysis\n", + " definition of HP:5200353 (Hypnopompic sleep paralysis)\n", + " \n", + " \n", + " Hypoplastic ilia\n", + " definition of HP:0000946 (Hypoplastic ilia)\n", + " \n", + " \n", + " Underdevelopment of the ilium.\n", + " definition of HP:0000946 (Hypoplastic ilia)\n", + " \n", + " \n", + " #Short and small iliac bones #Small iliac bones\n", + " definition of HP:0000946 (Hypoplastic ilia)\n", + " \n", + " \n", + " Deformed humeral heads\n", + " definition of HP:0005687 (Deformed humeral heads)\n", + " \n", + " \n", + " #Deformed head of long bone in upper arm\n", + " definition of HP:0005687 (Deformed humeral heads)\n", + " \n", + " \n", + " Hyalinized lymph-node vessels\n", + " definition of HP:0020266 (Hyalinized lymph-node vessels)\n", + " \n", + " \n", + " Hyalinized means to become clear/translucent such as collagen becoming more pale staining (collagen is typically quite eosinophilic, meaning attracted to the pink/red dye eosin); however, with regard to vessels in the lymph node, hyalinization is often used to describe vessel walls that appear markedly thickened or surrounded by eosinophilic material such as collagen, not necessarily translucent appearing.\n", + " definition of HP:0020266 (Hyalinized lymph-node vessels)\n", + " \n", + " \n", + " Left axis deviation\n", + " definition of HP:0033568 (Left axis deviation)\n", + " \n", + " \n", + " A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between -30 degrees and -90 degrees.\n", + " definition of HP:0033568 (Left axis deviation)\n", + " \n", + " \n", + " #Electrical left axis deviation\n", + " definition of HP:0033568 (Left axis deviation)\n", + " \n", + " \n", + " Megakaryocyte nucleus hyperlobulation\n", + " definition of HP:0031388 (Megakaryocyte nucleus hyperlobulation)\n", + " \n", + " \n", + " The presence of megakaryocytes in the bone marrow whose nuclei are more lobulated than expected for the size of the nucleus.\n", + " definition of HP:0031388 (Megakaryocyte nucleus hyperlobulation)\n", + " \n", + " \n", + " Increased T3/T4 ratio\n", + " definition of HP:0012559 (Increased T3/T4 ratio)\n", + " \n", + " \n", + " A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is higher than normal.\n", + " definition of HP:0012559 (Increased T3/T4 ratio)\n", + " \n", + " \n", + " Hyperkinetic movements\n", + " definition of HP:0002487 (Hyperkinetic movements)\n", + " \n", + " \n", + " Motor hyperactivity with excessive movement of muscles of the body as a whole.\n", + " definition of HP:0002487 (Hyperkinetic movements)\n", + " \n", + " \n", + " #Hyperkinesia #Hyperkinesis #Muscle spasms\n", + " definition of HP:0002487 (Hyperkinetic movements)\n", + " \n", + " \n", + " Prolonged PR interval\n", + " definition of HP:0012248 (Prolonged PR interval)\n", + " \n", + " \n", + " Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex).\n", + " definition of HP:0012248 (Prolonged PR interval)\n", + " \n", + " \n", + " #Electrocardiographic long PR interval #Lengthened PR interval on EKG\n", + " definition of HP:0012248 (Prolonged PR interval)\n", + " \n", + " \n", + " Abnormal utricle morphology\n", + " definition of HP:0040109 (Abnormal utricle morphology)\n", + " \n", + " \n", + " #Morphological abnormality of the utricle\n", + " definition of HP:0040109 (Abnormal utricle morphology)\n", + " \n", + " \n", + " Restricted or repetitive behaviors or interests\n", + " definition of HP:0031432 (Restricted or repetitive behaviors or interests)\n", + " \n", + " \n", + " A broad range of compulsive behaviors are repeated, including simple motor stereotypies and tics, as well as more complex repetitive movements or compulsions.\n", + " definition of HP:0031432 (Restricted or repetitive behaviors or interests)\n", + " \n", + " \n", + " Abnormal direction of ventricular apex\n", + " definition of HP:0011600 (Abnormal direction of ventricular apex)\n", + " \n", + " \n", + " Abnormal plane of direction of the heart from the base to the apex. Left sided is normal.\n", + " definition of HP:0011600 (Abnormal direction of ventricular apex)\n", + " \n", + " \n", + " Rudimentary fibula\n", + " definition of HP:0006381 (Rudimentary fibula)\n", + " \n", + " \n", + " Absent or nearly absent fibula. (Does not include aplastic)\n", + " definition of HP:0006381 (Rudimentary fibula)\n", + " \n", + " \n", + " #Rudimentary to absent fibulae #Small to absent calf bone #Small to absent fibula\n", + " definition of HP:0006381 (Rudimentary fibula)\n", + " \n", + " \n", + " Heel localization\n", + " definition of HP:6000138 (Heel localization)\n", + " \n", + " \n", + " Applies to an abnormality that is situated in (or predominant in) the heel.\n", + " definition of HP:6000138 (Heel localization)\n", + " \n", + " \n", + " #Heel predominance\n", + " definition of HP:6000138 (Heel localization)\n", + " \n", + " \n", + " Abnormal shoulder physiology\n", + " definition of HP:0033129 (Abnormal shoulder physiology)\n", + " \n", + " \n", + " Anopmalous function of the shoulder. The shoulder is a ball-and-socket joint that is made up of humerus, scapula and clavicle, which are connected by the sternoclavicular joint (SC), the acromioclavicular joint (AC), the glenohumeral joint (GH), and the scapulothoracic joint (ST). The GH, AC and SC joints link the upper extremity to the axial skeleton at the thorax and enable movement at the shoulder joint: flexion, extension, and rotation of the arm.\n", + " definition of HP:0033129 (Abnormal shoulder physiology)\n", + " \n", + " \n", + " Elevated circulating biliverdin concentration\n", + " definition of HP:0034383 (Elevated circulating biliverdin concentration)\n", + " \n", + " \n", + " Increased concentration of biliverdin, a green tetrapyrrolic bile pigment, in the blood circulation.\n", + " definition of HP:0034383 (Elevated circulating biliverdin concentration)\n", + " \n", + " \n", + " Pituitary null cell adenoma\n", + " definition of HP:0011761 (Pituitary null cell adenoma)\n", + " \n", + " \n", + " A type of pituitary adenoma that is of unknown cellular origin and that lacks immunocytochemical or fine structural markers. Null cell adenomas are not associated with hormone excess.\n", + " definition of HP:0011761 (Pituitary null cell adenoma)\n", + " \n", + " \n", + " #Clinically silent pituitary adenoma #Hormonally silent pituitary adenoma #Non-functional pituitary adenoma #Silent pituitary adenoma\n", + " definition of HP:0011761 (Pituitary null cell adenoma)\n", + " \n", + " \n", + " Decreased inflammatory response\n", + " definition of HP:0012648 (Decreased inflammatory response)\n", + " \n", + " \n", + " An abnormal reduction in the inflammatory response to injury or infection.\n", + " definition of HP:0012648 (Decreased inflammatory response)\n", + " \n", + " \n", + " #Decreased inflammatory response\n", + " definition of HP:0012648 (Decreased inflammatory response)\n", + " \n", + " \n", + " Premature epimetaphyseal fusion in foot\n", + " definition of HP:0012563 (Premature epimetaphyseal fusion in foot)\n", + " \n", + " \n", + " Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the foot, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.\n", + " definition of HP:0012563 (Premature epimetaphyseal fusion in foot)\n", + " \n", + " \n", + " Exercise-induced U wave inversion\n", + " definition of HP:0025073 (Exercise-induced U wave inversion)\n", + " \n", + " \n", + " U wave inversion that is induced by exercise stress testing.\n", + " definition of HP:0025073 (Exercise-induced U wave inversion)\n", + " \n", + " \n", + " Abnormal hypnopompia\n", + " definition of HP:5200297 (Abnormal hypnopompia)\n", + " \n", + " \n", + " Abnormal transition of consciousness from sleeping to wakefulness.\n", + " definition of HP:5200297 (Abnormal hypnopompia)\n", + " \n", + " \n", + " #Abnormal waking\n", + " definition of HP:5200297 (Abnormal hypnopompia)\n", + " \n", + " \n", + " Abnormal proportion of CD4-positive helper T cells\n", + " definition of HP:0500267 (Abnormal proportion of CD4-positive helper T cells)\n", + " \n", + " \n", + " An abnormal proportion of circulating CD4-positive helper T cells relative to total T cell count.\n", + " definition of HP:0500267 (Abnormal proportion of CD4-positive helper T cells)\n", + " \n", + " \n", + " Abnormal oblique muscle physiology\n", + " definition of HP:0031739 (Abnormal oblique muscle physiology)\n", + " \n", + " \n", + " A functional anomaly of the inferior or superior oblique muscle.\n", + " definition of HP:0031739 (Abnormal oblique muscle physiology)\n", + " \n", + " \n", + " Decreased plasma total carnitine\n", + " definition of HP:0011936 (Decreased plasma total carnitine)\n", + " \n", + " \n", + " A decreased concentration of total carnitine in the blood.\n", + " definition of HP:0011936 (Decreased plasma total carnitine)\n", + " \n", + " \n", + " #Decreased plasma total carnitine\n", + " definition of HP:0011936 (Decreased plasma total carnitine)\n", + " \n", + " \n", + " Gonadoblastoma\n", + " definition of HP:0000150 (Gonadoblastoma)\n", + " \n", + " \n", + " The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements.\n", + " definition of HP:0000150 (Gonadoblastoma)\n", + " \n", + " \n", + " Focal impaired awareness cognitive seizure with forced thinking\n", + " definition of HP:0032888 (Focal impaired awareness cognitive seizure with forced thinking)\n", + " \n", + " \n", + " A focal cognitive seizure with forced thinking characterized by impairment of awareness at some point during the seizure.\n", + " definition of HP:0032888 (Focal impaired awareness cognitive seizure with forced thinking)\n", + " \n", + " \n", + " Anaplastic thyroid carcinoma\n", + " definition of HP:0011779 (Anaplastic thyroid carcinoma)\n", + " \n", + " \n", + " Diffuse mesangial sclerosis\n", + " definition of HP:0001967 (Diffuse mesangial sclerosis)\n", + " \n", + " \n", + " Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion.\n", + " definition of HP:0001967 (Diffuse mesangial sclerosis)\n", + " \n", + " \n", + " #Diffuse mesangial sclerosis glomerulopathy #Mesangial sclerosis\n", + " definition of HP:0001967 (Diffuse mesangial sclerosis)\n", + " \n", + " \n", + " Patchy sclerosis of 2nd toe phalanx\n", + " definition of HP:0010352 (Patchy sclerosis of 2nd toe phalanx)\n", + " \n", + " \n", + " Patchy (irregular) increase in bone density of one or more of the phalanges of the second toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.\n", + " definition of HP:0010352 (Patchy sclerosis of 2nd toe phalanx)\n", + " \n", + " \n", + " #Patchy sclerosis of the phalanges of the 2nd toe #Uneven increase in bone density in 2nd toe bone\n", + " definition of HP:0010352 (Patchy sclerosis of 2nd toe phalanx)\n", + " \n", + " \n", + " High altitude exposure\n", + " definition of HP:6000033 (High altitude exposure)\n", + " \n", + " \n", + " A history of being at high altitude in situations such hiking, mountain climbing, travel to mountains, or air travel.\n", + " definition of HP:6000033 (High altitude exposure)\n", + " \n", + " \n", + " Reduced reactive oxygen species production in neutrophils\n", + " definition of HP:0025632 (Reduced reactive oxygen species production in neutrophils)\n", + " \n", + " \n", + " An abnormal reduction in the amount of reactive oxygen produced by neutrophils in the respiratory burst.\n", + " definition of HP:0025632 (Reduced reactive oxygen species production in neutrophils)\n", + " \n", + " \n", + " Curved olecranon\n", + " definition of HP:0004033 (Curved olecranon)\n", + " \n", + " \n", + " Club-shaped proximal femur\n", + " definition of HP:0006406 (Club-shaped proximal femur)\n", + " \n", + " \n", + " An abnormal conformation of the femur that becomes gradually enlarged towards the proximal end. This feature affects the proximal femoral metaphysis and epiphysis.\n", + " definition of HP:0006406 (Club-shaped proximal femur)\n", + " \n", + " \n", + " #Club-shaped innermost end of thighbone\n", + " definition of HP:0006406 (Club-shaped proximal femur)\n", + " \n", + " \n", + " Multiple palmar creases\n", + " definition of HP:0006114 (Multiple palmar creases)\n", + " \n", + " \n", + " The presence of multiple creases on the palm of the hand (more than the normal three major creases (distal transverse crease, proximal transverse crease, and thenar crease).\n", + " definition of HP:0006114 (Multiple palmar creases)\n", + " \n", + " \n", + " #Multiple palm lines\n", + " definition of HP:0006114 (Multiple palmar creases)\n", + " \n", + " \n", + " Abnormal megakaryocyte morphology\n", + " definition of HP:0012143 (Abnormal megakaryocyte morphology)\n", + " \n", + " \n", + " Any structural anomaly of megakaryocytes. Mature blood platelets are released from the cytoplasm of megakaryocytes, which are bone-marrow resident cells.\n", + " definition of HP:0012143 (Abnormal megakaryocyte morphology)\n", + " \n", + " \n", + " #Abnormality of cells of the megakaryocyte lineage\n", + " definition of HP:0012143 (Abnormal megakaryocyte morphology)\n", + " \n", + " \n", + " Open mouth\n", + " definition of HP:0000194 (Open mouth)\n", + " \n", + " \n", + " A facial appearance characterized by a permanently or nearly permanently opened mouth.\n", + " definition of HP:0000194 (Open mouth)\n", + " \n", + " \n", + " #Gaped jawed appearance #Gaped mouthed appearance #Open mouth #Slack jawed appearance\n", + " definition of HP:0000194 (Open mouth)\n", + " \n", + " \n", + " Cholesterol emboli within interlobular vein lumen\n", + " definition of HP:0033856 (Cholesterol emboli within interlobular vein lumen)\n", + " \n", + " \n", + " Needle-like or slit-like clefts within the interior space of interlobular veins. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.\n", + " definition of HP:0033856 (Cholesterol emboli within interlobular vein lumen)\n", + " \n", + " \n", + " Abnormal mean corpuscular hemoglobin concentration\n", + " definition of HP:0025546 (Abnormal mean corpuscular hemoglobin concentration)\n", + " \n", + " \n", + " A deviation from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced.\n", + " definition of HP:0025546 (Abnormal mean corpuscular hemoglobin concentration)\n", + " \n", + " \n", + " #Abnormal MCH #Abnormal MCHC #Abnormal mean corpuscular haemoglobin #Abnormal mean corpuscular haemoglobin concentration #Abnormal mean corpuscular Hb concentration\n", + " definition of HP:0025546 (Abnormal mean corpuscular hemoglobin concentration)\n", + " \n", + " \n", + " Pulmonary Langerhans cell histiocytosis\n", + " definition of HP:0034769 (Pulmonary Langerhans cell histiocytosis)\n", + " \n", + " \n", + " Accumulation of monoclonal CD1a-positive Langerhans cells in the bronchioles and alveolar interstitium that can cause damage to the lungs.\n", + " definition of HP:0034769 (Pulmonary Langerhans cell histiocytosis)\n", + " \n", + " \n", + " Proximal tubulopathy\n", + " definition of HP:0000114 (Proximal tubulopathy)\n", + " \n", + " \n", + " Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle.\n", + " definition of HP:0000114 (Proximal tubulopathy)\n", + " \n", + " \n", + " #Proximal renal tubule defect #Proximal renal tubulopathy #Proximal tubular defect #Proximal tubule dysfunction #Selective proximal tubular damage\n", + " definition of HP:0000114 (Proximal tubulopathy)\n", + " \n", + " \n", + " Distal femoral bowing\n", + " definition of HP:0005096 (Distal femoral bowing)\n", + " \n", + " \n", + " A bending or abnormal curvature of the distal portion of the femur.\n", + " definition of HP:0005096 (Distal femoral bowing)\n", + " \n", + " \n", + " Unaided visual acuity 0.9 LogMAR\n", + " definition of HP:0030544 (Unaided visual acuity 0.9 LogMAR)\n", + " \n", + " \n", + " Abnormality of corneal size\n", + " definition of HP:0001120 (Abnormality of corneal size)\n", + " \n", + " \n", + " Any abnormality of the size or morphology of the cornea.\n", + " definition of HP:0001120 (Abnormality of corneal size)\n", + " \n", + " \n", + " Anti-histidyl tRNA synthetase antibody positivity\n", + " definition of HP:0034152 (Anti-histidyl tRNA synthetase antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against histidyl tRNA synthetase.\n", + " definition of HP:0034152 (Anti-histidyl tRNA synthetase antibody positivity)\n", + " \n", + " \n", + " #Anti-Jo-1 antibody positivity #Anti-JO1 antibody positivity\n", + " definition of HP:0034152 (Anti-histidyl tRNA synthetase antibody positivity)\n", + " \n", + " \n", + " Poorly ossified vertebrae\n", + " definition of HP:0100856 (Poorly ossified vertebrae)\n", + " \n", + " \n", + " Decreased ossification of the vertebral bodies.\n", + " definition of HP:0100856 (Poorly ossified vertebrae)\n", + " \n", + " \n", + " Venous malformation of the lip\n", + " definition of HP:0031489 (Venous malformation of the lip)\n", + " \n", + " \n", + " A vascular malformation located in the lip that is related to abnormal vascular morphogenesis.\n", + " definition of HP:0031489 (Venous malformation of the lip)\n", + " \n", + " \n", + " Increased CSF ribitol concentration\n", + " definition of HP:0410071 (Increased CSF ribitol concentration)\n", + " \n", + " \n", + " The concentration of ribitol in the cerebrospinal fluid is above the upper limit of normal.\n", + " definition of HP:0410071 (Increased CSF ribitol concentration)\n", + " \n", + " \n", + " #Increased level of ribitol in cerebrospinal fluid\n", + " definition of HP:0410071 (Increased CSF ribitol concentration)\n", + " \n", + " \n", + " Trapezius muscle aplasia\n", + " definition of HP:0034342 (Trapezius muscle aplasia)\n", + " \n", + " \n", + " A developmental defect characterized by lack of formation of the trapezius muscle, which is broad superficial muscle that extends from the posterior neck to the posterior part of the trunk (thorax).\n", + " definition of HP:0034342 (Trapezius muscle aplasia)\n", + " \n", + " \n", + " Decreased liver bile salt export pump expression\n", + " definition of HP:6000718 (Decreased liver bile salt export pump expression)\n", + " \n", + " \n", + " Amount of bile salt export pump (BSEP, coded by the ABCB11 gene) in liver tissue below the lower limit of normal.\n", + " definition of HP:6000718 (Decreased liver bile salt export pump expression)\n", + " \n", + " \n", + " Positive brain-tissue rabies nucleic acid test\n", + " definition of HP:6000961 (Positive brain-tissue rabies nucleic acid test)\n", + " \n", + " \n", + " Detection of rabies nucleic acid in brain tissue by a method such as polymerase chain reaction.\n", + " definition of HP:6000961 (Positive brain-tissue rabies nucleic acid test)\n", + " \n", + " \n", + " Recent temporal region trauma\n", + " definition of HP:6000626 (Recent temporal region trauma)\n", + " \n", + " \n", + " A history of an injury to the temporal region of the skull that occurred recently (several hours, days, or weeks before the current presenting complaint).\n", + " definition of HP:6000626 (Recent temporal region trauma)\n", + " \n", + " \n", + " Decreased circulating complement factor B concentration\n", + " definition of HP:0005416 (Decreased circulating complement factor B concentration)\n", + " \n", + " \n", + " Concentration of the complement component factor B in the blood circulation below the lower limit of normal.\n", + " definition of HP:0005416 (Decreased circulating complement factor B concentration)\n", + " \n", + " \n", + " #Decreased serum complement factor B #Decreased serum factor b\n", + " definition of HP:0005416 (Decreased circulating complement factor B concentration)\n", + " \n", + " \n", + " Abnormal erythrocyte adenosine deaminase activity\n", + " definition of HP:4000209 (Abnormal erythrocyte adenosine deaminase activity)\n", + " \n", + " \n", + " Activity of adenosine deaminase in red blood cells outside the limits of normal.\n", + " definition of HP:4000209 (Abnormal erythrocyte adenosine deaminase activity)\n", + " \n", + " \n", + " Petechiae\n", + " definition of HP:0000967 (Petechiae)\n", + " \n", + " \n", + " Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae.\n", + " definition of HP:0000967 (Petechiae)\n", + " \n", + " \n", + " Lateral venous anomaly\n", + " definition of HP:0100885 (Lateral venous anomaly)\n", + " \n", + " \n", + " Persistence of the embryonic dorsal or sciatic vein system that normally should have involuted around the tenth to twelfth week of intrauterine life.\n", + " definition of HP:0100885 (Lateral venous anomaly)\n", + " \n", + " \n", + " #Klippel-Trenaunay vein #Lateral marginal vein of Servelle #Vein of Servelle\n", + " definition of HP:0100885 (Lateral venous anomaly)\n", + " \n", + " \n", + " Wide nose\n", + " definition of HP:0000445 (Wide nose)\n", + " \n", + " \n", + " Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae.\n", + " definition of HP:0000445 (Wide nose)\n", + " \n", + " \n", + " #Broad nose #Increased breadth of nose #Increased nasal breadth #Increased nasal width #Increased width of nose #Wide nose\n", + " definition of HP:0000445 (Wide nose)\n", + " \n", + " \n", + " Brown pigmentation of the conjunctiva\n", + " definition of HP:6000365 (Brown pigmentation of the conjunctiva)\n", + " \n", + " \n", + " Deposition of brown pigmentation in the conjunctiva.\n", + " definition of HP:6000365 (Brown pigmentation of the conjunctiva)\n", + " \n", + " \n", + " Carpal synostosis\n", + " definition of HP:0009702 (Carpal synostosis)\n", + " \n", + " \n", + " Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform).\n", + " definition of HP:0009702 (Carpal synostosis)\n", + " \n", + " \n", + " #Carpal bone fusion #Carpal fusion #Fused carpal bones #Fusion of carpal bones #Synostosis involving the carpal bones\n", + " definition of HP:0009702 (Carpal synostosis)\n", + " \n", + " \n", + " Prosopagnosia\n", + " definition of HP:0010528 (Prosopagnosia)\n", + " \n", + " \n", + " Inability to recognize faces of familiar persons.\n", + " definition of HP:0010528 (Prosopagnosia)\n", + " \n", + " \n", + " #Face blindness #Facial agnosia\n", + " definition of HP:0010528 (Prosopagnosia)\n", + " \n", + " \n", + " Increased lymph-node eosinophils\n", + " definition of HP:0020271 (Increased lymph-node eosinophils)\n", + " \n", + " \n", + " Eosinophils count within a lymph node above normal limits.\n", + " definition of HP:0020271 (Increased lymph-node eosinophils)\n", + " \n", + " \n", + " Thyroid hemiagenesis\n", + " definition of HP:0011780 (Thyroid hemiagenesis)\n", + " \n", + " \n", + " Absence of a lobe of the thyroid gland related to a failure of its embryologic development.\n", + " definition of HP:0011780 (Thyroid hemiagenesis)\n", + " \n", + " \n", + " Poor gross motor coordination\n", + " definition of HP:0007015 (Poor gross motor coordination)\n", + " \n", + " \n", + " An abnormality of the ability (skills) to perform a precise movement of large muscles with the intent to perform a specific act. Gross motor skills are required to mediate movements of the arms, legs, and other large body parts.\n", + " definition of HP:0007015 (Poor gross motor coordination)\n", + " \n", + " \n", + " #Gross motor impairment\n", + " definition of HP:0007015 (Poor gross motor coordination)\n", + " \n", + " \n", + " Abnormal Ishihara plate test\n", + " definition of HP:0030586 (Abnormal Ishihara plate test)\n", + " \n", + " \n", + " Degenerative liver disease\n", + " definition of HP:0005237 (Degenerative liver disease)\n", + " \n", + " \n", + " The presence of degenerative changes of the liver.\n", + " definition of HP:0005237 (Degenerative liver disease)\n", + " \n", + " \n", + " Abdominal aortic aneurysm\n", + " definition of HP:0005112 (Abdominal aortic aneurysm)\n", + " \n", + " \n", + " An abnormal localized widening (dilatation) of the abdominal aorta.\n", + " definition of HP:0005112 (Abdominal aortic aneurysm)\n", + " \n", + " \n", + " Hypoplasia of the frontal bone\n", + " definition of HP:0005466 (Hypoplasia of the frontal bone)\n", + " \n", + " \n", + " Underdevelopment of the frontal bone.\n", + " definition of HP:0005466 (Hypoplasia of the frontal bone)\n", + " \n", + " \n", + " #Decreased size of bone of forehead #Hypoplastic frontal bones #Small bone of forehead #Underdevelopment of bone of forehead\n", + " definition of HP:0005466 (Hypoplasia of the frontal bone)\n", + " \n", + " \n", + " Anthracosis\n", + " definition of HP:0033375 (Anthracosis)\n", + " \n", + " \n", + " Anthracosis is the deposition of black carbon pigment. It is commonly seen in perihilar lymph nodes as well as within lung parenchyma. There can be prominent storiforming (i.e., spiral patterning) of histiocytes, to such an extent as to mimic a neoplastic lesion histologically. Anthracosis is a common finding in smokers and polluted city dwellers.\n", + " definition of HP:0033375 (Anthracosis)\n", + " \n", + " \n", + " Left aortic arch with retroesophageal right subclavian artery\n", + " definition of HP:0011595 (Left aortic arch with retroesophageal right subclavian artery)\n", + " \n", + " \n", + " Aortic arch crosses the left mainstem bronchus. The first branch is the right carotid artery, the second branch is the left carotid artery, the third branch is the subclavian artery, the fourth branch is the right subclavian artery arising from the posteromedial aspect of the distal aortic arch and continuing posterior to the esophagus to the right hand side of the body.\n", + " definition of HP:0011595 (Left aortic arch with retroesophageal right subclavian artery)\n", + " \n", + " \n", + " Myocardial immune cell infiltration\n", + " definition of HP:0031321 (Myocardial immune cell infiltration)\n", + " \n", + " \n", + " An increase in the number of immune cells in myocardial tissue (which can be assumed to have migrated into the myocardium).\n", + " definition of HP:0031321 (Myocardial immune cell infiltration)\n", + " \n", + " \n", + " Brisk reflexes\n", + " definition of HP:0001348 (Brisk reflexes)\n", + " \n", + " \n", + " Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal.\n", + " definition of HP:0001348 (Brisk reflexes)\n", + " \n", + " \n", + " #Brisk deep tendon reflexes\n", + " definition of HP:0001348 (Brisk reflexes)\n", + " \n", + " \n", + " Abnormality of the fascia\n", + " definition of HP:0100536 (Abnormality of the fascia)\n", + " \n", + " \n", + " An abnormality of fascia.\n", + " definition of HP:0100536 (Abnormality of the fascia)\n", + " \n", + " \n", + " Abnormal large intestine morphology\n", + " definition of HP:0002250 (Abnormal large intestine morphology)\n", + " \n", + " \n", + " Any abnormality of the large intestine.\n", + " definition of HP:0002250 (Abnormal large intestine morphology)\n", + " \n", + " \n", + " #Abnormality of the large intestine\n", + " definition of HP:0002250 (Abnormal large intestine morphology)\n", + " \n", + " \n", + " Hypoammonemia\n", + " definition of HP:0100493 (Hypoammonemia)\n", + " \n", + " \n", + " A decreased concentration of ammonia in the blood.\n", + " definition of HP:0100493 (Hypoammonemia)\n", + " \n", + " \n", + " Bilateral asymmetric neonatal sequential seizure\n", + " definition of HP:0032837 (Bilateral asymmetric neonatal sequential seizure)\n", + " \n", + " \n", + " Asymmetric neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting asymmetrically with a variety of clinical and electrographic signs, often changing lateralization within or between seizures.\n", + " definition of HP:0032837 (Bilateral asymmetric neonatal sequential seizure)\n", + " \n", + " \n", + " Germinoma\n", + " definition of HP:0100620 (Germinoma)\n", + " \n", + " \n", + " A type of undifferentiated germ cell tumor that may be benign or malignant.\n", + " definition of HP:0100620 (Germinoma)\n", + " \n", + " \n", + " Vertical nystagmus\n", + " definition of HP:0010544 (Vertical nystagmus)\n", + " \n", + " \n", + " Vertical nystagmus may present with either up-beating or down-beating eye movements or both. When present in the straight-ahead position of gaze it is referred to as upbeat nystagmus or downbeat nystagmus.\n", + " definition of HP:0010544 (Vertical nystagmus)\n", + " \n", + " \n", + " Elevated circulating chitotriosidase activity\n", + " definition of HP:6000611 (Elevated circulating chitotriosidase activity)\n", + " \n", + " \n", + " Increased activity or concentration of the enzyme chitotriosidase. Serum chitotriosidase is a biomarker that has shown high specificity and sensitivity in patients with sarcoidosis.\n", + " definition of HP:6000611 (Elevated circulating chitotriosidase activity)\n", + " \n", + " \n", + " Hypoplasia of proximal radius\n", + " definition of HP:0006434 (Hypoplasia of proximal radius)\n", + " \n", + " \n", + " Proximal radial shortening owing to a congenital defect of development.\n", + " definition of HP:0006434 (Hypoplasia of proximal radius)\n", + " \n", + " \n", + " #Proximal radial shortening\n", + " definition of HP:0006434 (Hypoplasia of proximal radius)\n", + " \n", + " \n", + " Elevated circulating porphyrin concentration\n", + " definition of HP:0034606 (Elevated circulating porphyrin concentration)\n", + " \n", + " \n", + " Concentration of porphyrins or of a specific porphryin above the upper limit of normal. The most commonly tested circulating porphyrins are coproporphyrin, protoporphyrin, and uroporphyrin. Normally protoporphyrin is present in the highest concentration.\n", + " definition of HP:0034606 (Elevated circulating porphyrin concentration)\n", + " \n", + " \n", + " #Porphyrin high in blood\n", + " definition of HP:0034606 (Elevated circulating porphyrin concentration)\n", + " \n", + " \n", + " Limited vertical extraocular movement\n", + " definition of HP:0025721 (Limited vertical extraocular movement)\n", + " \n", + " \n", + " Limited mobility of the eye to move up and down (vertically) within its socket.\n", + " definition of HP:0025721 (Limited vertical extraocular movement)\n", + " \n", + " \n", + " Increased renal tubular phosphate reabsorption\n", + " definition of HP:0005571 (Increased renal tubular phosphate reabsorption)\n", + " \n", + " \n", + " #Increased percent tubular reabsorption of phosphorus\n", + " definition of HP:0005571 (Increased renal tubular phosphate reabsorption)\n", + " \n", + " \n", + " Abnormality of primary teeth\n", + " definition of HP:0006481 (Abnormality of primary teeth)\n", + " \n", + " \n", + " Any abnormality of the primary tooth.\n", + " definition of HP:0006481 (Abnormality of primary teeth)\n", + " \n", + " \n", + " #Abnormality of baby teeth #Abnormality of deciduous teeth #Abnormality of milk teeth\n", + " definition of HP:0006481 (Abnormality of primary teeth)\n", + " \n", + " \n", + " Myelodysplasia\n", + " definition of HP:0002863 (Myelodysplasia)\n", + " \n", + " \n", + " Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia.\n", + " definition of HP:0002863 (Myelodysplasia)\n", + " \n", + " \n", + " #Myelodysplastic syndrome\n", + " definition of HP:0002863 (Myelodysplasia)\n", + " \n", + " \n", + " Reduced platelet dense granules\n", + " definition of HP:0033535 (Reduced platelet dense granules)\n", + " \n", + " \n", + " Decreased number of platelet dense granules, a type of platelet organelle.\n", + " definition of HP:0033535 (Reduced platelet dense granules)\n", + " \n", + " \n", + " Increased CSF homocarnosine concentration\n", + " definition of HP:0500242 (Increased CSF homocarnosine concentration)\n", + " \n", + " \n", + " Abnormally increased levels of homocarnosine in cerebrospinal fluid.\n", + " definition of HP:0500242 (Increased CSF homocarnosine concentration)\n", + " \n", + " \n", + " #High homocarnosine levels in cerebrospinal fluid\n", + " definition of HP:0500242 (Increased CSF homocarnosine concentration)\n", + " \n", + " \n", + " Macular coloboma\n", + " definition of HP:0001116 (Macular coloboma)\n", + " \n", + " \n", + " A congenital defect of the macula distinct from coloboma associated with optic fissure closure defects. Macular coloboma is characterized by a sharply defined, rather large defect in the central area of the fundus that is oval or round, and coarsely pigmented.\n", + " definition of HP:0001116 (Macular coloboma)\n", + " \n", + " \n", + " #Coloboma of the macula\n", + " definition of HP:0001116 (Macular coloboma)\n", + " \n", + " \n", + " Narrow mouth\n", + " definition of HP:0000160 (Narrow mouth)\n", + " \n", + " \n", + " Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).\n", + " definition of HP:0000160 (Narrow mouth)\n", + " \n", + " \n", + " #Microstomia #Narrow mouth #Small mouth #Small oral aperture\n", + " definition of HP:0000160 (Narrow mouth)\n", + " \n", + " \n", + " Subpulmonary stenosis\n", + " definition of HP:0034348 (Subpulmonary stenosis)\n", + " \n", + " \n", + " A cardiovascular malformation associated with narrowing of the outflow tract of the right ventricle immediately below the pulmonary valve.\n", + " definition of HP:0034348 (Subpulmonary stenosis)\n", + " \n", + " \n", + " #Infundibular pulmonary stenosis #Infundibular pulmonic stenosis #Subvalvar pulmonary stenosis #Subvalvar pulmonic stenosis #Subvalvular pulmonary stenosis #Subvalvular pulmonic stenosis\n", + " definition of HP:0034348 (Subpulmonary stenosis)\n", + " \n", + " \n", + " Dysfunction of lateral corticospinal tracts\n", + " definition of HP:0007299 (Dysfunction of lateral corticospinal tracts)\n", + " \n", + " \n", + " Abnormal urine output\n", + " definition of HP:0012590 (Abnormal urine output)\n", + " \n", + " \n", + " An abnormal amount of urine production.\n", + " definition of HP:0012590 (Abnormal urine output)\n", + " \n", + " \n", + " Oligoclonal elevation of circulating IgM\n", + " definition of HP:0032332 (Oligoclonal elevation of circulating IgM)\n", + " \n", + " \n", + " An increase in circulating IgM characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase.\n", + " definition of HP:0032332 (Oligoclonal elevation of circulating IgM)\n", + " \n", + " \n", + " Spermatocele\n", + " definition of HP:0033808 (Spermatocele)\n", + " \n", + " \n", + " A cystic structure arising from the epididymis, rete testis or efferent ductuli. These structures are filled with spermatozoa containing fluid that may be milky. These cysts are usually outside the tunica vaginalis and, as with hydrocele, transluminate easily.\n", + " definition of HP:0033808 (Spermatocele)\n", + " \n", + " \n", + " Limited wrist movement\n", + " definition of HP:0006248 (Limited wrist movement)\n", + " \n", + " \n", + " An abnormal limitation of the mobility of the wrist.\n", + " definition of HP:0006248 (Limited wrist movement)\n", + " \n", + " \n", + " #Limited movement of the wrist #Limited wrist movement\n", + " definition of HP:0006248 (Limited wrist movement)\n", + " \n", + " \n", + " Pneumocystis carinii pneumonia\n", + " definition of HP:0034286 (Pneumocystis carinii pneumonia)\n", + " \n", + " \n", + " Pneumocystis carinii pneumonia is an opportunistic infection that occurs in immunosuppressed populations.\n", + " definition of HP:0034286 (Pneumocystis carinii pneumonia)\n", + " \n", + " \n", + " Breast apocrine adenoma\n", + " definition of HP:6000895 (Breast apocrine adenoma)\n", + " \n", + " \n", + " A type of breast adenoma composed of benign apocrine cells.\n", + " definition of HP:6000895 (Breast apocrine adenoma)\n", + " \n", + " \n", + " #Apocrine adenoma of the breast\n", + " definition of HP:6000895 (Breast apocrine adenoma)\n", + " \n", + " \n", + " Decreased skin turgor\n", + " definition of HP:6000303 (Decreased skin turgor)\n", + " \n", + " \n", + " Reduced skin turgor means reduced elastic recoil of the skin to its normal contour after being pinched in a fold.\n", + " definition of HP:6000303 (Decreased skin turgor)\n", + " \n", + " \n", + " Arcuate artery intima/media arteriosclerosis\n", + " definition of HP:0033905 (Arcuate artery intima/media arteriosclerosis)\n", + " \n", + " \n", + " Thickening of the intima of the arcuate arteries of the kidney with fibrosis and/or duplication of the elastic lamina.\n", + " definition of HP:0033905 (Arcuate artery intima/media arteriosclerosis)\n", + " \n", + " \n", + " #Arteriosclerosis within arcuate arterial intima/media\n", + " definition of HP:0033905 (Arcuate artery intima/media arteriosclerosis)\n", + " \n", + " \n", + " Ovarian mass\n", + " definition of HP:0034879 (Ovarian mass)\n", + " \n", + " \n", + " A swelling or enlargement localized to the ovary. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.\n", + " definition of HP:0034879 (Ovarian mass)\n", + " \n", + " \n", + " Osteolytic defects of the middle phalanx of the 3rd toe\n", + " definition of HP:0100452 (Osteolytic defects of the middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " Anti-SUMO-activating enzyme subunit 1 antibody positivity\n", + " definition of HP:0034140 (Anti-SUMO-activating enzyme subunit 1 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE 1.\n", + " definition of HP:0034140 (Anti-SUMO-activating enzyme subunit 1 antibody positivity)\n", + " \n", + " \n", + " Altered lymph-node tissue architecture\n", + " definition of HP:0020234 (Altered lymph-node tissue architecture)\n", + " \n", + " \n", + " An alteration that affects multiple components of the architecture of a lymph node.\n", + " definition of HP:0020234 (Altered lymph-node tissue architecture)\n", + " \n", + " \n", + " #Distorted lymph node architecture\n", + " definition of HP:0020234 (Altered lymph-node tissue architecture)\n", + " \n", + " \n", + " Low-set nipples\n", + " definition of HP:0002562 (Low-set nipples)\n", + " \n", + " \n", + " Placement of the nipples at a lower than normal location.\n", + " definition of HP:0002562 (Low-set nipples)\n", + " \n", + " \n", + " #Low-set nipples\n", + " definition of HP:0002562 (Low-set nipples)\n", + " \n", + " \n", + " Decreased compound muscle action potential amplitude\n", + " definition of HP:0033383 (Decreased compound muscle action potential amplitude)\n", + " \n", + " \n", + " Reduced level of the compound muscle action potential (CMAP), which is recorded following electrical stimulation of a nerve from surface electrodes overlying a muscle supplied by that nerve.\n", + " definition of HP:0033383 (Decreased compound muscle action potential amplitude)\n", + " \n", + " \n", + " #Decreased CMAP amplitude\n", + " definition of HP:0033383 (Decreased compound muscle action potential amplitude)\n", + " \n", + " \n", + " Posterior rib cupping\n", + " definition of HP:0000922 (Posterior rib cupping)\n", + " \n", + " \n", + " Wide, concave posterior rib end.\n", + " definition of HP:0000922 (Posterior rib cupping)\n", + " \n", + " \n", + " #Anterior and posterior rib cupping\n", + " definition of HP:0000922 (Posterior rib cupping)\n", + " \n", + " \n", + " Duplication of the middle phalanx of the 5th finger\n", + " definition of HP:0009989 (Duplication of the middle phalanx of the 5th finger)\n", + " \n", + " \n", + " Partial or complete duplication of the fifth middle phalanx of hand.\n", + " definition of HP:0009989 (Duplication of the middle phalanx of the 5th finger)\n", + " \n", + " \n", + " #Duplication of the middle little finger bone #Duplication of the middle pinkie finger bone #Duplication of the middle pinky finger bone #Partial/complete duplication of the middle phalanx of the 5th finger\n", + " definition of HP:0009989 (Duplication of the middle phalanx of the 5th finger)\n", + " \n", + " \n", + " Reverse typical atrial flutter\n", + " definition of HP:0031672 (Reverse typical atrial flutter)\n", + " \n", + " \n", + " A type of atrial flutter associated with rounded or bimodal positive deflections in inferior leads II, III and aVF, and a very characteristic bimodal negative wave in the shape of a W is seen in lead V1.\n", + " definition of HP:0031672 (Reverse typical atrial flutter)\n", + " \n", + " \n", + " Abnormal cell morphology\n", + " definition of HP:0025461 (Abnormal cell morphology)\n", + " \n", + " \n", + " Any anomaly of cell structure.\n", + " definition of HP:0025461 (Abnormal cell morphology)\n", + " \n", + " \n", + " Gingival bleeding\n", + " definition of HP:0000225 (Gingival bleeding)\n", + " \n", + " \n", + " Hemorrhage affecting the gingiva.\n", + " definition of HP:0000225 (Gingival bleeding)\n", + " \n", + " \n", + " #Bleeding gums #Gingival haemorrhage #Gingival hemorrhage #Gingivorrhagia\n", + " definition of HP:0000225 (Gingival bleeding)\n", + " \n", + " \n", + " Digital ulcer\n", + " definition of HP:0031917 (Digital ulcer)\n", + " \n", + " \n", + " An open sore on the surface of the skin of a finger or toe.\n", + " definition of HP:0031917 (Digital ulcer)\n", + " \n", + " \n", + " Abnormal CSF serine concentration\n", + " definition of HP:0500226 (Abnormal CSF serine concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of serine in the cerebrospinal fluid.\n", + " definition of HP:0500226 (Abnormal CSF serine concentration)\n", + " \n", + " \n", + " #Abnormal serine levels in cerebrospinal fluid\n", + " definition of HP:0500226 (Abnormal CSF serine concentration)\n", + " \n", + " \n", + " Decreased/absent ankle reflexes\n", + " definition of HP:0200101 (Decreased/absent ankle reflexes)\n", + " \n", + " \n", + " #Decreased/absent ankle reflexes\n", + " definition of HP:0200101 (Decreased/absent ankle reflexes)\n", + " \n", + " \n", + " Patchy distortion of vertebrae\n", + " definition of HP:0004609 (Patchy distortion of vertebrae)\n", + " \n", + " \n", + " Reduced circulating erythropoietin concentration\n", + " definition of HP:0034443 (Reduced circulating erythropoietin concentration)\n", + " \n", + " \n", + " Decreased concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production.\n", + " definition of HP:0034443 (Reduced circulating erythropoietin concentration)\n", + " \n", + " \n", + " #Erythropoietin low in blood\n", + " definition of HP:0034443 (Reduced circulating erythropoietin concentration)\n", + " \n", + " \n", + " Agyria\n", + " definition of HP:0031882 (Agyria)\n", + " \n", + " \n", + " A congenital abnormality of the cerebral hemisphere characterized by lack of gyrations (convolutions) of the cerebral cortex. Agyria is defined as cortical regions lacking gyration with sulci great than 3 cm apart and cerebral cortex thicker than 5 mm.\n", + " definition of HP:0031882 (Agyria)\n", + " \n", + " \n", + " #Agyria diffuse\n", + " definition of HP:0031882 (Agyria)\n", + " \n", + " \n", + " Pear-shaped nose\n", + " definition of HP:0000447 (Pear-shaped nose)\n", + " \n", + " \n", + " #Pear-shaped nose\n", + " definition of HP:0000447 (Pear-shaped nose)\n", + " \n", + " \n", + " Elevated circulating S-sulfocysteine concentration\n", + " definition of HP:0034745 (Elevated circulating S-sulfocysteine concentration)\n", + " \n", + " \n", + " Concentration of S-sulfocysteine in the blood circulation above the upper limit of normal.\n", + " definition of HP:0034745 (Elevated circulating S-sulfocysteine concentration)\n", + " \n", + " \n", + " #S-sulfocysteine high in blood\n", + " definition of HP:0034745 (Elevated circulating S-sulfocysteine concentration)\n", + " \n", + " \n", + " Focal polymicrogyria\n", + " definition of HP:0032471 (Focal polymicrogyria)\n", + " \n", + " \n", + " Polymicrogyria affecting one or multiple small areas of the cerebral cortex.\n", + " definition of HP:0032471 (Focal polymicrogyria)\n", + " \n", + " \n", + " Focal aware cognitive seizure with dyscalculia/acalculia\n", + " definition of HP:0032690 (Focal aware cognitive seizure with dyscalculia/acalculia)\n", + " \n", + " \n", + " A focal cognitive seizure with dyscalculia and or acalculia characterized by retained awareness throughout the seizure.\n", + " definition of HP:0032690 (Focal aware cognitive seizure with dyscalculia/acalculia)\n", + " \n", + " \n", + " Pseudohypoparathyroidism\n", + " definition of HP:0000852 (Pseudohypoparathyroidism)\n", + " \n", + " \n", + " A condition characterized by resistance to the action of parathyroid hormone, in which there is hypocalcemia, hyperphosphatemia, and (appropriately) high levels of parathyroid hormone.\n", + " definition of HP:0000852 (Pseudohypoparathyroidism)\n", + " \n", + " \n", + " Reduced social insight\n", + " definition of HP:5200021 (Reduced social insight)\n", + " \n", + " \n", + " A lack of awareness of social rules in multiple social settings, which are simple or intuitive to others in the same social setting.\n", + " definition of HP:5200021 (Reduced social insight)\n", + " \n", + " \n", + " #Abnormal social awareness #Abnormal social understanding\n", + " definition of HP:5200021 (Reduced social insight)\n", + " \n", + " \n", + " Subarachnoid hemorrhage\n", + " definition of HP:0002138 (Subarachnoid hemorrhage)\n", + " \n", + " \n", + " Hemorrhage occurring between the arachnoid mater and the pia mater.\n", + " definition of HP:0002138 (Subarachnoid hemorrhage)\n", + " \n", + " \n", + " #Subarachnoid hemorrhage\n", + " definition of HP:0002138 (Subarachnoid hemorrhage)\n", + " \n", + " \n", + " Hand paresthesia\n", + " definition of HP:0033660 (Hand paresthesia)\n", + " \n", + " \n", + " Tingling (often referred to as a pins and needles feeling) and numbness in the hand.\n", + " definition of HP:0033660 (Hand paresthesia)\n", + " \n", + " \n", + " #Hand tingling\n", + " definition of HP:0033660 (Hand paresthesia)\n", + " \n", + " \n", + " GM1-ganglioside accumulation\n", + " definition of HP:0020160 (GM1-ganglioside accumulation)\n", + " \n", + " \n", + " Cellular accumulation of GM1 gangliosides.\n", + " definition of HP:0020160 (GM1-ganglioside accumulation)\n", + " \n", + " \n", + " Increased mean corpuscular volume\n", + " definition of HP:0005518 (Increased mean corpuscular volume)\n", + " \n", + " \n", + " Larger than normal size of erythrocytes.\n", + " definition of HP:0005518 (Increased mean corpuscular volume)\n", + " \n", + " \n", + " #Erythrocyte macrocytosis #Increased MCV\n", + " definition of HP:0005518 (Increased mean corpuscular volume)\n", + " \n", + " \n", + " Anti-Glutamate Receptor delta2 antibody positivity\n", + " definition of HP:6000876 (Anti-Glutamate Receptor delta2 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies in the serum that react against glutamate receptor delta2.\n", + " definition of HP:6000876 (Anti-Glutamate Receptor delta2 antibody positivity)\n", + " \n", + " \n", + " Abnormal toe phalanx morphology\n", + " definition of HP:0010161 (Abnormal toe phalanx morphology)\n", + " \n", + " \n", + " #Abnormality of the long bones of the toes #Abnormality of the phalanges of the toes\n", + " definition of HP:0010161 (Abnormal toe phalanx morphology)\n", + " \n", + " \n", + " Reduced fetal long bone echogenicity\n", + " definition of HP:0034073 (Reduced fetal long bone echogenicity)\n", + " \n", + " \n", + " An abnormally decreased echogenicity of fetal long bones in a prenatal sonographic investigation. This finding is due to hypomineralization and can be seen in some disorders such as hypophosphatasia, osteogenesis imperfecta, and achondrogenesis.\n", + " definition of HP:0034073 (Reduced fetal long bone echogenicity)\n", + " \n", + " \n", + " Predominantly epidermal neutrophilic infiltrate\n", + " definition of HP:0031235 (Predominantly epidermal neutrophilic infiltrate)\n", + " \n", + " \n", + " Collection of neutrophils in the epidermis.\n", + " definition of HP:0031235 (Predominantly epidermal neutrophilic infiltrate)\n", + " \n", + " \n", + " Loss of ability to walk in first decade\n", + " definition of HP:0006794 (Loss of ability to walk in first decade)\n", + " \n", + " \n", + " #Loss of ability to walk in first decade\n", + " definition of HP:0006794 (Loss of ability to walk in first decade)\n", + " \n", + " \n", + " Body odor\n", + " definition of HP:0500001 (Body odor)\n", + " \n", + " \n", + " A perceived unpleasant smell given off by the body.\n", + " definition of HP:0500001 (Body odor)\n", + " \n", + " \n", + " #BO #Body odor #Bromhidrosis #Bromidrosis #Osmidrosis\n", + " definition of HP:0500001 (Body odor)\n", + " \n", + " \n", + " Hepatic reticuloendothelial system cell iron deposition\n", + " definition of HP:6000713 (Hepatic reticuloendothelial system cell iron deposition)\n", + " \n", + " \n", + " Abnormal accumulation of iron in reticuloendothelial cells of the liver. This feature can be appreciated on liver biopsy by Perls iron stain for granular iron deposition, based on agreement that only discernible hemosiderin granules represent significant iron deposition.\n", + " definition of HP:6000713 (Hepatic reticuloendothelial system cell iron deposition)\n", + " \n", + " \n", + " Loss of Purkinje cells in the cerebellar vermis\n", + " definition of HP:0007001 (Loss of Purkinje cells in the cerebellar vermis)\n", + " \n", + " \n", + " Abnormal VLDL cholesterol concentration\n", + " definition of HP:0031889 (Abnormal VLDL cholesterol concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of very-low-density lipoprotein cholesterol in the blood.\n", + " definition of HP:0031889 (Abnormal VLDL cholesterol concentration)\n", + " \n", + " \n", + " Supernumerary testes\n", + " definition of HP:0010470 (Supernumerary testes)\n", + " \n", + " \n", + " The presence of more than two testes.\n", + " definition of HP:0010470 (Supernumerary testes)\n", + " \n", + " \n", + " #Extra testes #Polyorchidism\n", + " definition of HP:0010470 (Supernumerary testes)\n", + " \n", + " \n", + " Angulated humerus\n", + " definition of HP:0003863 (Angulated humerus)\n", + " \n", + " \n", + " #Angulated long bone in upper arm\n", + " definition of HP:0003863 (Angulated humerus)\n", + " \n", + " \n", + " Perivascular myocardial immune cell infiltration\n", + " definition of HP:0031330 (Perivascular myocardial immune cell infiltration)\n", + " \n", + " \n", + " An increase in the number of immune cells in myocardial tissue concentrated in the spaces surrounding blood vessels.\n", + " definition of HP:0031330 (Perivascular myocardial immune cell infiltration)\n", + " \n", + " \n", + " Double elevator palsy\n", + " definition of HP:0020041 (Double elevator palsy)\n", + " \n", + " \n", + " A type of incomitant strabismus in which both elevator muscles (i.e., the inferior oblique and superior rectus muscles) of the same eye are weak leading to restricted elevation and hypotropia.\n", + " definition of HP:0020041 (Double elevator palsy)\n", + " \n", + " \n", + " Aplasia of the proximal phalanx of the 2nd toe\n", + " definition of HP:0010436 (Aplasia of the proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Absent innermost 2nd toe bone\n", + " definition of HP:0010436 (Aplasia of the proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Triangular epiphysis of the proximal phalanx of the 5th toe\n", + " definition of HP:0100234 (Triangular epiphysis of the proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " #Triangular end part of the innermost bone of the little toe #Triangular end part of the innermost bone of the pinkie toe #Triangular end part of the innermost bone of the pinky toe\n", + " definition of HP:0100234 (Triangular epiphysis of the proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " Reduced cell surface marker level\n", + " definition of HP:0031551 (Reduced cell surface marker level)\n", + " \n", + " \n", + " Reduced level of a protein that is normally present on the cell surface as assessed by flow cytometry.\n", + " definition of HP:0031551 (Reduced cell surface marker level)\n", + " \n", + " \n", + " Congenital alopecia totalis\n", + " definition of HP:0005597 (Congenital alopecia totalis)\n", + " \n", + " \n", + " Loss of all scalp hair with congenital onset.\n", + " definition of HP:0005597 (Congenital alopecia totalis)\n", + " \n", + " \n", + " Increased proinsulin:insulin ratio\n", + " definition of HP:0031883 (Increased proinsulin:insulin ratio)\n", + " \n", + " \n", + " An elevated concentration of proinsulin (the prohormone precursor to insulin) to mature insulin in the circulation.\n", + " definition of HP:0031883 (Increased proinsulin:insulin ratio)\n", + " \n", + " \n", + " Spinal arteriovenous malformation\n", + " definition of HP:0002390 (Spinal arteriovenous malformation)\n", + " \n", + " \n", + " Alexithymia\n", + " definition of HP:0031433 (Alexithymia)\n", + " \n", + " \n", + " Alexithymia is characterized by an impaired ability to be aware of, explicitly identify, and describe one's feelings.\n", + " definition of HP:0031433 (Alexithymia)\n", + " \n", + " \n", + " #Unaware of others' emotions\n", + " definition of HP:0031433 (Alexithymia)\n", + " \n", + " \n", + " Protanopia\n", + " definition of HP:0011522 (Protanopia)\n", + " \n", + " \n", + " Blue and green cones only; no functional red cones.\n", + " definition of HP:0011522 (Protanopia)\n", + " \n", + " \n", + " #Red-blind\n", + " definition of HP:0011522 (Protanopia)\n", + " \n", + " \n", + " Foveal inner retinal layer loss on macular OCT\n", + " definition of HP:0030621 (Foveal inner retinal layer loss on macular OCT)\n", + " \n", + " \n", + " Reactive hypoglycemia\n", + " definition of HP:0012051 (Reactive hypoglycemia)\n", + " \n", + " \n", + " Hypoglycermia following a meal (or more generally, after intake of glucose).\n", + " definition of HP:0012051 (Reactive hypoglycemia)\n", + " \n", + " \n", + " #Low blood sugar after a meal #Postprandial hypoglycemia\n", + " definition of HP:0012051 (Reactive hypoglycemia)\n", + " \n", + " \n", + " Complete duplication of the middle phalanx of the 3rd toe\n", + " definition of HP:0100410 (Complete duplication of the middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " Complete duplication of middle phalanx of third toe.\n", + " definition of HP:0100410 (Complete duplication of the middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Complete duplication of the middle bone of the 3rd toe #Complete duplication of the middle phalanx of the third toe\n", + " definition of HP:0100410 (Complete duplication of the middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " Reduced plasma cell count\n", + " definition of HP:0025618 (Reduced plasma cell count)\n", + " \n", + " \n", + " An abnormally low number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies.\n", + " definition of HP:0025618 (Reduced plasma cell count)\n", + " \n", + " \n", + " Serrated intestinal polyps\n", + " definition of HP:0032222 (Serrated intestinal polyps)\n", + " \n", + " \n", + " The presence of multiple serrated polyps in the intestine. Unlike conventional adenomas, which are uniformly dysplastic, the vast majority of serrated lesions contain no dysplasia. The serrated class includes the hyperplastic polyps, which are not considered precancerous; sessile serrated polyps (also called sessile serrated adenomas); and traditional serrated adenomas. Sessile serrated polyps are larger on average and more often located in the proximal colon. Sessile serrated polyps have a more irregular surface, a pattern to the surface that has been called cloudlike, and indistinct edges compared with hyperplastic polyps. Sessile serrated polyps also have large open pits on the surface (type O pits) when viewed with magnification.\n", + " definition of HP:0032222 (Serrated intestinal polyps)\n", + " \n", + " \n", + " Broad forearm bones\n", + " definition of HP:0003971 (Broad forearm bones)\n", + " \n", + " \n", + " Abnormally wide bone of the skeleton of forearm.\n", + " definition of HP:0003971 (Broad forearm bones)\n", + " \n", + " \n", + " #Broad forearm bones #Wide forearm bones\n", + " definition of HP:0003971 (Broad forearm bones)\n", + " \n", + " \n", + " Degeneration of the striatum\n", + " definition of HP:0040140 (Degeneration of the striatum)\n", + " \n", + " \n", + " Small epiphyses of the phalanges of the hand\n", + " definition of HP:0010236 (Small epiphyses of the phalanges of the hand)\n", + " \n", + " \n", + " Abnormally small size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms.\n", + " definition of HP:0010236 (Small epiphyses of the phalanges of the hand)\n", + " \n", + " \n", + " #Small end part of finger bones #Small epiphyses of the fingers\n", + " definition of HP:0010236 (Small epiphyses of the phalanges of the hand)\n", + " \n", + " \n", + " Partial duplication of the phalanges of the 2nd finger\n", + " definition of HP:0009956 (Partial duplication of the phalanges of the 2nd finger)\n", + " \n", + " \n", + " A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 2nd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.\n", + " definition of HP:0009956 (Partial duplication of the phalanges of the 2nd finger)\n", + " \n", + " \n", + " #Partial duplication of the bones of the index finger\n", + " definition of HP:0009956 (Partial duplication of the phalanges of the 2nd finger)\n", + " \n", + " \n", + " Abnormal CSF protein concentration\n", + " definition of HP:0025456 (Abnormal CSF protein concentration)\n", + " \n", + " \n", + " Any deviation from the normal range of a protein concentration in the cerebrospinal fluid.\n", + " definition of HP:0025456 (Abnormal CSF protein concentration)\n", + " \n", + " \n", + " #Abnormal CSF protein level\n", + " definition of HP:0025456 (Abnormal CSF protein concentration)\n", + " \n", + " \n", + " Neutralizing anti-rabies virus antibody positivity\n", + " definition of HP:6000929 (Neutralizing anti-rabies virus antibody positivity)\n", + " \n", + " \n", + " The presence of antibodies in the blood circulation that act against the rabies virus function by blocking the binding of the glycoprotein to a receptor or preventing the membrane fusion process.\n", + " definition of HP:6000929 (Neutralizing anti-rabies virus antibody positivity)\n", + " \n", + " \n", + " Torsion of appendix of testis\n", + " definition of HP:0033180 (Torsion of appendix of testis)\n", + " \n", + " \n", + " The appendix testis or hydatid of Morgagni, is a vestigial remnant of the Müllerian duct located on the superior pole of the testicle between the testis and epididymis. Although this appendage has no vital function, it is present in 50% of males. Torsion of twisting of this vestigial remnant can be incredibly painful, but usually requires no medical intervention.\n", + " definition of HP:0033180 (Torsion of appendix of testis)\n", + " \n", + " \n", + " #Twisted vestigial remnant of the Muellerian duct\n", + " definition of HP:0033180 (Torsion of appendix of testis)\n", + " \n", + " \n", + " Bracket epiphysis of the distal phalanx of the 4th finger\n", + " definition of HP:0009251 (Bracket epiphysis of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " An abnormality of the distal phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.\n", + " definition of HP:0009251 (Bracket epiphysis of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " #Bracket shaped end part of the outermost bone of the ring finger\n", + " definition of HP:0009251 (Bracket epiphysis of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " Abnormal macrophage morphology\n", + " definition of HP:0004311 (Abnormal macrophage morphology)\n", + " \n", + " \n", + " An abnormality of macrophages.\n", + " definition of HP:0004311 (Abnormal macrophage morphology)\n", + " \n", + " \n", + " #Abnormality of histiocytes #Abnormality of macrophages\n", + " definition of HP:0004311 (Abnormal macrophage morphology)\n", + " \n", + " \n", + " Clubbing\n", + " definition of HP:0001217 (Clubbing)\n", + " \n", + " \n", + " Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails.\n", + " definition of HP:0001217 (Clubbing)\n", + " \n", + " \n", + " #Clubbing of fingers and toes #Digital clubbing\n", + " definition of HP:0001217 (Clubbing)\n", + " \n", + " \n", + " Positive synonvial fluid culture\n", + " definition of HP:6000582 (Positive synonvial fluid culture)\n", + " \n", + " \n", + " Growth of an infectious agent in a culture derived from synovial fluid.\n", + " definition of HP:6000582 (Positive synonvial fluid culture)\n", + " \n", + " \n", + " Abnormal portal venous system morphology\n", + " definition of HP:0031941 (Abnormal portal venous system morphology)\n", + " \n", + " \n", + " Any structural anomaly of the portal venous system, which comprises all of the veins draining the abdominal part of the digestive tract, including the lower esophagus but excluding the lower anal canal. The portal vein conveys blood from viscera and ramifies like an artery at the liver, ending at the sinusoids. Tributaries of the portal vein, which make up the portal venous system, are the splenic, superior mesenteric, left gastric, right gastric, paraumbilical, and cystic veins.\n", + " definition of HP:0031941 (Abnormal portal venous system morphology)\n", + " \n", + " \n", + " Peg-shaped maxillary lateral incisors\n", + " definition of HP:0006342 (Peg-shaped maxillary lateral incisors)\n", + " \n", + " \n", + " A tooth crown with its mesial and distal sides converging or tapering toward the incisal edge causing severe reduction of mesiodistal diameter\n", + " definition of HP:0006342 (Peg-shaped maxillary lateral incisors)\n", + " \n", + " \n", + " #Peg shaped upper lateral incisors #Peg-shaped tooth\n", + " definition of HP:0006342 (Peg-shaped maxillary lateral incisors)\n", + " \n", + " \n", + " Hypoplasia of the upper arm musculature\n", + " definition of HP:0030239 (Hypoplasia of the upper arm musculature)\n", + " \n", + " \n", + " Underdevelopment of the musculature of the upper arm, which may include the deltoid, the triceps, the biceps, and the brachioradialis.\n", + " definition of HP:0030239 (Hypoplasia of the upper arm musculature)\n", + " \n", + " \n", + " #Underdeveloped upper arm muscles\n", + " definition of HP:0030239 (Hypoplasia of the upper arm musculature)\n", + " \n", + " \n", + " Complete duplication of proximal phalanx of the thumb\n", + " definition of HP:0009608 (Complete duplication of proximal phalanx of the thumb)\n", + " \n", + " \n", + " Complete duplication of the proximal phalanx of the thumb. On x-ray two separate bones appear side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.\n", + " definition of HP:0009608 (Complete duplication of proximal phalanx of the thumb)\n", + " \n", + " \n", + " #Complete duplication of the innermost bone of the thumb\n", + " definition of HP:0009608 (Complete duplication of proximal phalanx of the thumb)\n", + " \n", + " \n", + " Deep venous thrombosis\n", + " definition of HP:0002625 (Deep venous thrombosis)\n", + " \n", + " \n", + " Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected.\n", + " definition of HP:0002625 (Deep venous thrombosis)\n", + " \n", + " \n", + " #Blood clot in a deep vein #Deep vein thrombosis #Multiple deep venous thrombosis\n", + " definition of HP:0002625 (Deep venous thrombosis)\n", + " \n", + " \n", + " Decreased circulating purine concentration\n", + " definition of HP:0004369 (Decreased circulating purine concentration)\n", + " \n", + " \n", + " Abnormally reduced concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring.\n", + " definition of HP:0004369 (Decreased circulating purine concentration)\n", + " \n", + " \n", + " #Decreased purine level #Decreased purine levels\n", + " definition of HP:0004369 (Decreased circulating purine concentration)\n", + " \n", + " \n", + " Papilloma\n", + " definition of HP:0012740 (Papilloma)\n", + " \n", + " \n", + " A tumor of the skin or mucous membrane with finger-like projections.\n", + " definition of HP:0012740 (Papilloma)\n", + " \n", + " \n", + " Abnormality of the bladder\n", + " definition of HP:0000014 (Abnormality of the bladder)\n", + " \n", + " \n", + " An abnormality of the urinary bladder.\n", + " definition of HP:0000014 (Abnormality of the bladder)\n", + " \n", + " \n", + " Increased erythrocyte coproporphyrin concentration\n", + " definition of HP:0034909 (Increased erythrocyte coproporphyrin concentration)\n", + " \n", + " \n", + " Concentration of coproporphyrin in erythrocytes above the upper limit of normal.\n", + " definition of HP:0034909 (Increased erythrocyte coproporphyrin concentration)\n", + " \n", + " \n", + " Hypomature enamel\n", + " definition of HP:0033786 (Hypomature enamel)\n", + " \n", + " \n", + " Enamel with a white or brown discoloration without hypoplasia.\n", + " definition of HP:0033786 (Hypomature enamel)\n", + " \n", + " \n", + " #Enamel opacity\n", + " definition of HP:0033786 (Hypomature enamel)\n", + " \n", + " \n", + " Bracket epiphysis of the proximal phalanx of the 2nd finger\n", + " definition of HP:0009525 (Bracket epiphysis of the proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " An abnormality of the proximal phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.\n", + " definition of HP:0009525 (Bracket epiphysis of the proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Bracket epiphyses of proximal index finger phalanx #Bracket shaped end part of innermost long bone of index finger\n", + " definition of HP:0009525 (Bracket epiphysis of the proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Maternal hypertension\n", + " definition of HP:0008071 (Maternal hypertension)\n", + " \n", + " \n", + " Increased blood pressure during a pregnancy.\n", + " definition of HP:0008071 (Maternal hypertension)\n", + " \n", + " \n", + " Elevated circulating hepcidin concentration\n", + " definition of HP:0031877 (Elevated circulating hepcidin concentration)\n", + " \n", + " \n", + " Concentration of hepcidin in the blood circulation above the upper limit of normal.\n", + " definition of HP:0031877 (Elevated circulating hepcidin concentration)\n", + " \n", + " \n", + " #Elevated hepcidin level\n", + " definition of HP:0031877 (Elevated circulating hepcidin concentration)\n", + " \n", + " \n", + " Lower limb peromelia\n", + " definition of HP:0009820 (Lower limb peromelia)\n", + " \n", + " \n", + " Peromelia affecting only the lower limbs. That is, the distal parts of the leg are missing leading to stump formation.\n", + " definition of HP:0009820 (Lower limb peromelia)\n", + " \n", + " \n", + " Abnormality of cartilage of external ear\n", + " definition of HP:3000022 (Abnormality of cartilage of external ear)\n", + " \n", + " \n", + " An abnormality of a cartilage of external ear.\n", + " definition of HP:3000022 (Abnormality of cartilage of external ear)\n", + " \n", + " \n", + " Abnormal proportion of transitional B cells\n", + " definition of HP:0030379 (Abnormal proportion of transitional B cells)\n", + " \n", + " \n", + " A deviation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells.\n", + " definition of HP:0030379 (Abnormal proportion of transitional B cells)\n", + " \n", + " \n", + " #Abnormal proportion of CD19+CD38+IgM+ cells\n", + " definition of HP:0030379 (Abnormal proportion of transitional B cells)\n", + " \n", + " \n", + " Reduced 3-methylcrotonyl CoA carboxylase activity in cultured fibroblasts\n", + " definition of HP:4000206 (Reduced 3-methylcrotonyl CoA carboxylase activity in cultured fibroblasts)\n", + " \n", + " \n", + " Activity of 3-methylcrotonyl-CoA carboxylase (EC 6.4.1.4) below the lower limit of normal in cultured fibroblasts.\n", + " definition of HP:4000206 (Reduced 3-methylcrotonyl CoA carboxylase activity in cultured fibroblasts)\n", + " \n", + " \n", + " #3-methylcrotonyl CoA carboxylase low in fibroblasts\n", + " definition of HP:4000206 (Reduced 3-methylcrotonyl CoA carboxylase activity in cultured fibroblasts)\n", + " \n", + " \n", + " Polycystic kidney dysplasia\n", + " definition of HP:0000113 (Polycystic kidney dysplasia)\n", + " \n", + " \n", + " The presence of multiple cysts in both kidneys.\n", + " definition of HP:0000113 (Polycystic kidney dysplasia)\n", + " \n", + " \n", + " #Polycystic kidneys\n", + " definition of HP:0000113 (Polycystic kidney dysplasia)\n", + " \n", + " \n", + " Mild proteinuria\n", + " definition of HP:0012595 (Mild proteinuria)\n", + " \n", + " \n", + " Mildly increased levels of protein in the urine (150-500 mg per day in adults).\n", + " definition of HP:0012595 (Mild proteinuria)\n", + " \n", + " \n", + " Fractured nose\n", + " definition of HP:0041249 (Fractured nose)\n", + " \n", + " \n", + " A partial or complete breakage of the nose.\n", + " definition of HP:0041249 (Fractured nose)\n", + " \n", + " \n", + " #bone nose\n", + " definition of HP:0041249 (Fractured nose)\n", + " \n", + " \n", + " Refractory\n", + " definition of HP:0031375 (Refractory)\n", + " \n", + " \n", + " Applies to a sign or symptom that is difficult to treat or cure.\n", + " definition of HP:0031375 (Refractory)\n", + " \n", + " \n", + " Congenital localized absence of skin\n", + " definition of HP:0007383 (Congenital localized absence of skin)\n", + " \n", + " \n", + " #Congenital localised absence of skin #Congenital localised skin absence #Congenital localized skin absence\n", + " definition of HP:0007383 (Congenital localized absence of skin)\n", + " \n", + " \n", + " Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells\n", + " definition of HP:0031401 (Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells)\n", + " \n", + " \n", + " An abnormally decreased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells.\n", + " definition of HP:0031401 (Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells)\n", + " \n", + " \n", + " Elevated vascular endothelial growth factor level\n", + " definition of HP:0031052 (Elevated vascular endothelial growth factor level)\n", + " \n", + " \n", + " Increased blood concentration of vascular endothelial growth factor (VEGF).\n", + " definition of HP:0031052 (Elevated vascular endothelial growth factor level)\n", + " \n", + " \n", + " #Elevated circulating VEGF concentration\n", + " definition of HP:0031052 (Elevated vascular endothelial growth factor level)\n", + " \n", + " \n", + " Anti-regulator of G protein signaling 8 antibody positivity\n", + " definition of HP:6000879 (Anti-regulator of G protein signaling 8 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies in the serum that react against regulator of G-protein signaling 8 (RGS8).\n", + " definition of HP:6000879 (Anti-regulator of G protein signaling 8 antibody positivity)\n", + " \n", + " \n", + " Type 1 muscle fiber atrophy\n", + " definition of HP:0011807 (Type 1 muscle fiber atrophy)\n", + " \n", + " \n", + " Atrophy (wasting) affecting primary type 1 muscle fibers. This feature in general can only be observed on muscle biopsy.\n", + " definition of HP:0011807 (Type 1 muscle fiber atrophy)\n", + " \n", + " \n", + " #Type 1 muscle fibre atrophy\n", + " definition of HP:0011807 (Type 1 muscle fiber atrophy)\n", + " \n", + " \n", + " Bullet-shaped proximal phalanx of the 3rd toe\n", + " definition of HP:0100437 (Bullet-shaped proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " An abnormal morphology of the proximal phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.\n", + " definition of HP:0100437 (Bullet-shaped proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Bullet-shaped proximal bone of the 3rd toe\n", + " definition of HP:0100437 (Bullet-shaped proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Focal impaired awareness seizure\n", + " definition of HP:0002384 (Focal impaired awareness seizure)\n", + " \n", + " \n", + " Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure.\n", + " definition of HP:0002384 (Focal impaired awareness seizure)\n", + " \n", + " \n", + " #Complex focal seizures #Complex partial seizure #Complex partial seizures #Dyscognitive seizures #Focal dyscognitive seizure #Focal impaired awareness seizures #Focal seizure with impairment of awareness #Focal seizure with loss of awareness #Focal seizures with impairment of consciousness or awareness #Localised dyscognitive seizure #Localised seizure with impaired awareness #Localised seizure with loss of awareness #Localized dyscognitive seizure #Localized seizure with impaired awareness #Localized seizure with loss of awareness #Partial dyscognitive seizure #Partial seizure with impairment of awareness #Partial seizure with loss of awareness\n", + " definition of HP:0002384 (Focal impaired awareness seizure)\n", + " \n", + " \n", + " Focal aware autonomic seizure with erection\n", + " definition of HP:0032770 (Focal aware autonomic seizure with erection)\n", + " \n", + " \n", + " A focal autonomic seizure with erection characterized by retained awareness throughout the seizure.\n", + " definition of HP:0032770 (Focal aware autonomic seizure with erection)\n", + " \n", + " \n", + " Lacrimal duct atresia\n", + " definition of HP:0000564 (Lacrimal duct atresia)\n", + " \n", + " \n", + " A developmental disorder of the lacrimal drainage system that most often affects the lacrimal ostium and resulting in non-opening of the nasolacrimal duct. It usually results from a non-canalization of the nasolacrimal duct.\n", + " definition of HP:0000564 (Lacrimal duct atresia)\n", + " \n", + " \n", + " #Imperforate nasolacrimal ducts #Nasolacrimal duct atresia #Unopened tear duct\n", + " definition of HP:0000564 (Lacrimal duct atresia)\n", + " \n", + " \n", + " Abnormal muscle fiber gamma sarcoglycan\n", + " definition of HP:0030104 (Abnormal muscle fiber gamma sarcoglycan)\n", + " \n", + " \n", + " Deviation from normal in the amount of gamma sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines.\n", + " definition of HP:0030104 (Abnormal muscle fiber gamma sarcoglycan)\n", + " \n", + " \n", + " #Abnormal muscle fibre gamma sarcoglycan\n", + " definition of HP:0030104 (Abnormal muscle fiber gamma sarcoglycan)\n", + " \n", + " \n", + " Reduced muscle fiber delta sarcoglycan\n", + " definition of HP:0030111 (Reduced muscle fiber delta sarcoglycan)\n", + " \n", + " \n", + " Abnormally reduced amount of delta sarcoglycan in muscle.\n", + " definition of HP:0030111 (Reduced muscle fiber delta sarcoglycan)\n", + " \n", + " \n", + " #Reduced muscle fibre delta sarcoglycan\n", + " definition of HP:0030111 (Reduced muscle fiber delta sarcoglycan)\n", + " \n", + " \n", + " Recurrent viral pneumonia\n", + " definition of HP:0033214 (Recurrent viral pneumonia)\n", + " \n", + " \n", + " Increased susceptibility to viral pneumonia, as manifested by recurrent episodes of viral pneumonias.\n", + " definition of HP:0033214 (Recurrent viral pneumonia)\n", + " \n", + " \n", + " Abnormal maxilla morphology\n", + " definition of HP:0000326 (Abnormal maxilla morphology)\n", + " \n", + " \n", + " An abnormality of the Maxilla (upper jaw bone).\n", + " definition of HP:0000326 (Abnormal maxilla morphology)\n", + " \n", + " \n", + " #Abnormality of the maxilla #Abnormality of the upper jaw bone #Abnormality of the upper jaw bones\n", + " definition of HP:0000326 (Abnormal maxilla morphology)\n", + " \n", + " \n", + " Abnormality of frontal process of maxilla\n", + " definition of HP:3000044 (Abnormality of frontal process of maxilla)\n", + " \n", + " \n", + " An abnormality of a frontal process of the maxilla bone.\n", + " definition of HP:3000044 (Abnormality of frontal process of maxilla)\n", + " \n", + " \n", + " Pseudarthrosis of the forearm bones\n", + " definition of HP:0003965 (Pseudarthrosis of the forearm bones)\n", + " \n", + " \n", + " Absent in utero rib ossification\n", + " definition of HP:0006615 (Absent in utero rib ossification)\n", + " \n", + " \n", + " Lack of formation and mineralization of the ribs in utero.\n", + " definition of HP:0006615 (Absent in utero rib ossification)\n", + " \n", + " \n", + " #Absent rib calcification in utero\n", + " definition of HP:0006615 (Absent in utero rib ossification)\n", + " \n", + " \n", + " Anti-envoplakin antibody positivity\n", + " definition of HP:4000015 (Anti-envoplakin antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against envoplakin, a cytoskeletal linker protein that links intermediate filaments to cellular junctions.\n", + " definition of HP:4000015 (Anti-envoplakin antibody positivity)\n", + " \n", + " \n", + " Anomalous tracheal cartilage\n", + " definition of HP:0004468 (Anomalous tracheal cartilage)\n", + " \n", + " \n", + " An abnormality of the C-shaped rings of hyaline cartilage, normally 16 to 20 in number, that occupy the anterior two-thirds of the circumference of the trachea (the posterior portion of the ring is completed by fibrous and smooth muscle tissue).\n", + " definition of HP:0004468 (Anomalous tracheal cartilage)\n", + " \n", + " \n", + " #Abnormal tracheal cartilaginous ring\n", + " definition of HP:0004468 (Anomalous tracheal cartilage)\n", + " \n", + " \n", + " Abnormal vocal cord morphology\n", + " definition of HP:0008777 (Abnormal vocal cord morphology)\n", + " \n", + " \n", + " An abnormality of the vocal cord.\n", + " definition of HP:0008777 (Abnormal vocal cord morphology)\n", + " \n", + " \n", + " #Abnormality of the vocal cords\n", + " definition of HP:0008777 (Abnormal vocal cord morphology)\n", + " \n", + " \n", + " Severe generalized osteoporosis\n", + " definition of HP:0005897 (Severe generalized osteoporosis)\n", + " \n", + " \n", + " Severe degree of osteoporosis.\n", + " definition of HP:0005897 (Severe generalized osteoporosis)\n", + " \n", + " \n", + " #Severe generalised osteoporosis #Severe, generalised osteoporosis #Severe, generalized osteoporosis\n", + " definition of HP:0005897 (Severe generalized osteoporosis)\n", + " \n", + " \n", + " Penetrating aortic ulcer\n", + " definition of HP:0031648 (Penetrating aortic ulcer)\n", + " \n", + " \n", + " A focal defect in the elastic lamina of the aortic wall that leads to localized medial disruption and potential rupture.\n", + " definition of HP:0031648 (Penetrating aortic ulcer)\n", + " \n", + " \n", + " Absent eyelashes\n", + " definition of HP:0000561 (Absent eyelashes)\n", + " \n", + " \n", + " Lack of eyelashes.\n", + " definition of HP:0000561 (Absent eyelashes)\n", + " \n", + " \n", + " #Absent eyelashes #Atrichia of eyelashes #Failure of development of eyelashes\n", + " definition of HP:0000561 (Absent eyelashes)\n", + " \n", + " \n", + " Unilateral polymicrogyria\n", + " definition of HP:0006927 (Unilateral polymicrogyria)\n", + " \n", + " \n", + " Excessive number of small gyri (convolutions) on the surface of one side of the brain.\n", + " definition of HP:0006927 (Unilateral polymicrogyria)\n", + " \n", + " \n", + " Distal aortic arch hypoplasia\n", + " definition of HP:0034229 (Distal aortic arch hypoplasia)\n", + " \n", + " \n", + " A type of aortic arch hypoplasia whereby the distal aortic arch (arch distal to the ductus arteriosus) has a diameter of less than 60% of the diameter of the ascending aorta.\n", + " definition of HP:0034229 (Distal aortic arch hypoplasia)\n", + " \n", + " \n", + " Thick anterior alveolar ridges\n", + " definition of HP:0009100 (Thick anterior alveolar ridges)\n", + " \n", + " \n", + " #Thick anterior alveolar process of jaw\n", + " definition of HP:0009100 (Thick anterior alveolar ridges)\n", + " \n", + " \n", + " Abnormal apoptosis\n", + " definition of HP:4000056 (Abnormal apoptosis)\n", + " \n", + " \n", + " Any abnormality of programmed cell death (apoptosis), which is defined as the orchestrated collapse of a cell characterized by membrane blebbing, cell shrinkage, condensation of chromatin, and fragmentation of DNA followed by rapid engulfment of the corpse by neighboring cells. Apoptosis is distinguished from death by necrosis by the absence of an associated inflammatory response.\n", + " definition of HP:4000056 (Abnormal apoptosis)\n", + " \n", + " \n", + " Deviation of the hallux\n", + " definition of HP:0010051 (Deviation of the hallux)\n", + " \n", + " \n", + " Displacement of the big toe from its normal position.\n", + " definition of HP:0010051 (Deviation of the hallux)\n", + " \n", + " \n", + " #Displacement of big toe #Displacement of the hallux\n", + " definition of HP:0010051 (Deviation of the hallux)\n", + " \n", + " \n", + " Prominent veins on trunk\n", + " definition of HP:0007457 (Prominent veins on trunk)\n", + " \n", + " \n", + " Prominent thoracic and abdominal veins.\n", + " definition of HP:0007457 (Prominent veins on trunk)\n", + " \n", + " \n", + " Self hugging\n", + " definition of HP:0032521 (Self hugging)\n", + " \n", + " \n", + " Involuntary, tic-like movements consisted of crossing both arms across the chest and tensing the body or clasping the hands and squeezing the arms to the sides. The movements last a few seconds and may occur in series or flurries, generally accompanied by facial grimacing and occasional grunting.\n", + " definition of HP:0032521 (Self hugging)\n", + " \n", + " \n", + " #Spasmodic upper-body squeeze\n", + " definition of HP:0032521 (Self hugging)\n", + " \n", + " \n", + " Abnormality of the medullary cavity of the long bones\n", + " definition of HP:0100253 (Abnormality of the medullary cavity of the long bones)\n", + " \n", + " \n", + " An abnormality of the medullary cavity (medulla, innermost part), which is the central cavity of bone shafts where red bone marrow and/or yellow bone marrow (adipose tissue) is stored.\n", + " definition of HP:0100253 (Abnormality of the medullary cavity of the long bones)\n", + " \n", + " \n", + " #Abnormality of the marrow cavity of the long bones\n", + " definition of HP:0100253 (Abnormality of the medullary cavity of the long bones)\n", + " \n", + " \n", + " Relatively short spine\n", + " definition of HP:0002766 (Relatively short spine)\n", + " \n", + " \n", + " #Relatively short spine\n", + " definition of HP:0002766 (Relatively short spine)\n", + " \n", + " \n", + " Lichenoid skin lesion\n", + " definition of HP:0031452 (Lichenoid skin lesion)\n", + " \n", + " \n", + " Multiple skin lesions resembling those characteristic of the disease lichen planus. These lesions are violaceous (reddish-purple), shiny, isolated, flat-topped papules and plaques.\n", + " definition of HP:0031452 (Lichenoid skin lesion)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the sternum\n", + " definition of HP:0006714 (Aplasia/Hypoplasia of the sternum)\n", + " \n", + " \n", + " #Absent/small sternum #Absent/underdeveloped sternum\n", + " definition of HP:0006714 (Aplasia/Hypoplasia of the sternum)\n", + " \n", + " \n", + " Verrucous cell carcinoma of the tongue\n", + " definition of HP:0030414 (Verrucous cell carcinoma of the tongue)\n", + " \n", + " \n", + " A low-grade variant of squamous cell carcinoma of the tongue with a warty (verrucous) appearance.\n", + " definition of HP:0030414 (Verrucous cell carcinoma of the tongue)\n", + " \n", + " \n", + " Elbow clonus\n", + " definition of HP:0011728 (Elbow clonus)\n", + " \n", + " \n", + " Clonus at the elbow joint, i.e., an exaggerated phasic stretch reflex characterized by repetitive, rhythmic contractions at the elbow, generated by rapid passive stretch at the elbow joint.\n", + " definition of HP:0011728 (Elbow clonus)\n", + " \n", + " \n", + " Retinal degeneration\n", + " definition of HP:0000546 (Retinal degeneration)\n", + " \n", + " \n", + " A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells.\n", + " definition of HP:0000546 (Retinal degeneration)\n", + " \n", + " \n", + " #Retina degeneration\n", + " definition of HP:0000546 (Retinal degeneration)\n", + " \n", + " \n", + " Large fleshy ears\n", + " definition of HP:0002265 (Large fleshy ears)\n", + " \n", + " \n", + " #Large fleshy ears\n", + " definition of HP:0002265 (Large fleshy ears)\n", + " \n", + " \n", + " Increased urine succinate level\n", + " definition of HP:0033092 (Increased urine succinate level)\n", + " \n", + " \n", + " The concentration of succinate in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:0033092 (Increased urine succinate level)\n", + " \n", + " \n", + " Abnormal number of dense granules\n", + " definition of HP:0012530 (Abnormal number of dense granules)\n", + " \n", + " \n", + " A deviation from the normal count of dense granules per thrombocyte.\n", + " definition of HP:0012530 (Abnormal number of dense granules)\n", + " \n", + " \n", + " Alacrima\n", + " definition of HP:0000522 (Alacrima)\n", + " \n", + " \n", + " Absence of tear secretion.\n", + " definition of HP:0000522 (Alacrima)\n", + " \n", + " \n", + " #Absence of tears in the eyes #Absent lacrimal fluids #Absent tear secretion\n", + " definition of HP:0000522 (Alacrima)\n", + " \n", + " \n", + " Paraspinal muscle hypertrophy\n", + " definition of HP:0012894 (Paraspinal muscle hypertrophy)\n", + " \n", + " \n", + " Muscle hypertrophy affecting the paraspinal muscles.\n", + " definition of HP:0012894 (Paraspinal muscle hypertrophy)\n", + " \n", + " \n", + " Cyclic neutropenia in myeloid maturation arrest in bone marrow\n", + " definition of HP:0410254 (Cyclic neutropenia in myeloid maturation arrest in bone marrow)\n", + " \n", + " \n", + " Cyclic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow.\n", + " definition of HP:0410254 (Cyclic neutropenia in myeloid maturation arrest in bone marrow)\n", + " \n", + " \n", + " Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal\n", + " definition of HP:0100485 (Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal)\n", + " \n", + " \n", + " #Fused innermost bone of the 4th toe with 4th long bone of foot\n", + " definition of HP:0100485 (Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal)\n", + " \n", + " \n", + " Small epiphysis of the distal phalanx of the 2nd finger\n", + " definition of HP:0009510 (Small epiphysis of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms.\n", + " definition of HP:0009510 (Small epiphysis of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Small end part of the outermost bone of the index finger\n", + " definition of HP:0009510 (Small epiphysis of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Hyperchloremic acidosis\n", + " definition of HP:0001995 (Hyperchloremic acidosis)\n", + " \n", + " \n", + " Acidosis (pH less than 7.35) that develops with an increase in ionic chloride.\n", + " definition of HP:0001995 (Hyperchloremic acidosis)\n", + " \n", + " \n", + " Mitral valve arcade\n", + " definition of HP:0011564 (Mitral valve arcade)\n", + " \n", + " \n", + " Anomalous mitral valve arcade is diagnosed based on the following features (1) An adequately sized mitral valve orifice; (2) short, thick, and poorly differentiated chordae with direct union of the papillary muscles to the anterior leaflet; (3) narrow or nearly nonexistent spaces between the abnormal chordae; and (4) greater differentiation of the chordae attached to the posterior papillary muscle.\n", + " definition of HP:0011564 (Mitral valve arcade)\n", + " \n", + " \n", + " #Hammock mitral valve\n", + " definition of HP:0011564 (Mitral valve arcade)\n", + " \n", + " \n", + " Abnormal hepatic iron concentration\n", + " definition of HP:0040134 (Abnormal hepatic iron concentration)\n", + " \n", + " \n", + " #Abnormal liver iron concentration #Abnormal liver iron level\n", + " definition of HP:0040134 (Abnormal hepatic iron concentration)\n", + " \n", + " \n", + " Fatigue\n", + " definition of HP:0012378 (Fatigue)\n", + " \n", + " \n", + " A subjective feeling of tiredness characterized by a lack of energy and motivation.\n", + " definition of HP:0012378 (Fatigue)\n", + " \n", + " \n", + " #Fatigue #Tired #Tiredness\n", + " definition of HP:0012378 (Fatigue)\n", + " \n", + " \n", + " Focal impaired awareness head nodding automatism seizure\n", + " definition of HP:0032926 (Focal impaired awareness head nodding automatism seizure)\n", + " \n", + " \n", + " A type of focal automatism in which awareness is partially or fully impaired at some point during the seizure and is seizure characterized by involuntary head nodding at onset.\n", + " definition of HP:0032926 (Focal impaired awareness head nodding automatism seizure)\n", + " \n", + " \n", + " Spatulate thumbs\n", + " definition of HP:0001222 (Spatulate thumbs)\n", + " \n", + " \n", + " Spoon-shaped, broad thumbs.\n", + " definition of HP:0001222 (Spatulate thumbs)\n", + " \n", + " \n", + " #Spoon shaped thumbs\n", + " definition of HP:0001222 (Spatulate thumbs)\n", + " \n", + " \n", + " Large central visual field defect\n", + " definition of HP:0001129 (Large central visual field defect)\n", + " \n", + " \n", + " #Large central loss of field of vision\n", + " definition of HP:0001129 (Large central visual field defect)\n", + " \n", + " \n", + " Sacroiliac arthritis\n", + " definition of HP:0012317 (Sacroiliac arthritis)\n", + " \n", + " \n", + " Inflammation of the sacroiliac joint, generally accompanied by lower back pain.\n", + " definition of HP:0012317 (Sacroiliac arthritis)\n", + " \n", + " \n", + " #Sacroiliitis\n", + " definition of HP:0012317 (Sacroiliac arthritis)\n", + " \n", + " \n", + " Abolished vibration sense\n", + " definition of HP:0006944 (Abolished vibration sense)\n", + " \n", + " \n", + " A complete loss of the ability to perceive vibration.\n", + " definition of HP:0006944 (Abolished vibration sense)\n", + " \n", + " \n", + " #Apallesthesia\n", + " definition of HP:0006944 (Abolished vibration sense)\n", + " \n", + " \n", + " Enlarged lacrimal glands\n", + " definition of HP:0007734 (Enlarged lacrimal glands)\n", + " \n", + " \n", + " Abnormally big lacrimal glands.\n", + " definition of HP:0007734 (Enlarged lacrimal glands)\n", + " \n", + " \n", + " #Enlarged tear gland\n", + " definition of HP:0007734 (Enlarged lacrimal glands)\n", + " \n", + " \n", + " Abasia\n", + " definition of HP:0012651 (Abasia)\n", + " \n", + " \n", + " A severe form of gait ataxia such that an affected person cannot walk at all.\n", + " definition of HP:0012651 (Abasia)\n", + " \n", + " \n", + " Unilateral external ear deformity\n", + " definition of HP:0008605 (Unilateral external ear deformity)\n", + " \n", + " \n", + " #Deformed external ear on one side\n", + " definition of HP:0008605 (Unilateral external ear deformity)\n", + " \n", + " \n", + " Tortuous cerebral arteries\n", + " definition of HP:0004938 (Tortuous cerebral arteries)\n", + " \n", + " \n", + " Excessive bending, twisting, and winding of a cerebral artery.\n", + " definition of HP:0004938 (Tortuous cerebral arteries)\n", + " \n", + " \n", + " #Twisted cerebral arteries\n", + " definition of HP:0004938 (Tortuous cerebral arteries)\n", + " \n", + " \n", + " Macular degeneration\n", + " definition of HP:0000608 (Macular degeneration)\n", + " \n", + " \n", + " A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.\n", + " definition of HP:0000608 (Macular degeneration)\n", + " \n", + " \n", + " #Pigmented macular degeneration\n", + " definition of HP:0000608 (Macular degeneration)\n", + " \n", + " \n", + " Incomplete cleft maxillary alveolar ridge\n", + " definition of HP:5201007 (Incomplete cleft maxillary alveolar ridge)\n", + " \n", + " \n", + " Cleft maxillary alveolar ridge in which the cleft does not go through the entire length of the maxillary alveolar ridge.\n", + " definition of HP:5201007 (Incomplete cleft maxillary alveolar ridge)\n", + " \n", + " \n", + " Digenic inheritance\n", + " definition of HP:0010984 (Digenic inheritance)\n", + " \n", + " \n", + " A type of multifactorial inheritance governed by the simultaneous action of two gene loci.\n", + " definition of HP:0010984 (Digenic inheritance)\n", + " \n", + " \n", + " Paroxysmal nocturnal dyspnea\n", + " definition of HP:0034807 (Paroxysmal nocturnal dyspnea)\n", + " \n", + " \n", + " Attacks of breathlessness that occur at night and may awaken the sleeping patient.\n", + " definition of HP:0034807 (Paroxysmal nocturnal dyspnea)\n", + " \n", + " \n", + " #Paroxysmal nocturnal dyspnea\n", + " definition of HP:0034807 (Paroxysmal nocturnal dyspnea)\n", + " \n", + " \n", + " Absent proximal finger flexion creases\n", + " definition of HP:0006077 (Absent proximal finger flexion creases)\n", + " \n", + " \n", + " Absence of the proximal interphalangeal flexion creases of the fingers.\n", + " definition of HP:0006077 (Absent proximal finger flexion creases)\n", + " \n", + " \n", + " Gastrojejunal tube feeding in infancy\n", + " definition of HP:0030884 (Gastrojejunal tube feeding in infancy)\n", + " \n", + " \n", + " Feeding problem necessitating gastrojejunal tube feeding.\n", + " definition of HP:0030884 (Gastrojejunal tube feeding in infancy)\n", + " \n", + " \n", + " #Gastro-jejunal tube feeding in infancy\n", + " definition of HP:0030884 (Gastrojejunal tube feeding in infancy)\n", + " \n", + " \n", + " Dense posterior cortical cataract\n", + " definition of HP:0007948 (Dense posterior cortical cataract)\n", + " \n", + " \n", + " A type of posterior cortical cataract characterized by dense lenticular opacities.\n", + " definition of HP:0007948 (Dense posterior cortical cataract)\n", + " \n", + " \n", + " Rhabdomyolysis\n", + " definition of HP:0003201 (Rhabdomyolysis)\n", + " \n", + " \n", + " Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream.\n", + " definition of HP:0003201 (Rhabdomyolysis)\n", + " \n", + " \n", + " #Breakdown of skeletal muscle\n", + " definition of HP:0003201 (Rhabdomyolysis)\n", + " \n", + " \n", + " Elongated sella turcica\n", + " definition of HP:0005463 (Elongated sella turcica)\n", + " \n", + " \n", + " Acute emergence over minutes\n", + " definition of HP:0025306 (Acute emergence over minutes)\n", + " \n", + " \n", + " Acute appearance of disease manifestations in a period of minutes.\n", + " definition of HP:0025306 (Acute emergence over minutes)\n", + " \n", + " \n", + " Shoulder girdle muscle atrophy\n", + " definition of HP:0003724 (Shoulder girdle muscle atrophy)\n", + " \n", + " \n", + " Amyotrophy affecting the muscles of the shoulder girdle.\n", + " definition of HP:0003724 (Shoulder girdle muscle atrophy)\n", + " \n", + " \n", + " #Shoulder girdle atrophy #Shoulder girdle muscle wasting #Shoulder-girdle muscle atrophy\n", + " definition of HP:0003724 (Shoulder girdle muscle atrophy)\n", + " \n", + " \n", + " Breast aplasia\n", + " definition of HP:0100783 (Breast aplasia)\n", + " \n", + " \n", + " Failure to develop and congenital absence of the breast.\n", + " definition of HP:0100783 (Breast aplasia)\n", + " \n", + " \n", + " #Absent breast #Congenital absence of breast #Mammary gland aplasia\n", + " definition of HP:0100783 (Breast aplasia)\n", + " \n", + " \n", + " Cleft helix\n", + " definition of HP:0009902 (Cleft helix)\n", + " \n", + " \n", + " A notched form of the helix of the ear. That is, a defect in the continuity of the helix, which may occur at any point along its length.\n", + " definition of HP:0009902 (Cleft helix)\n", + " \n", + " \n", + " #Notched helix #Notching of the ear helix\n", + " definition of HP:0009902 (Cleft helix)\n", + " \n", + " \n", + " Elevated circulating calprotectin concentration\n", + " definition of HP:6000502 (Elevated circulating calprotectin concentration)\n", + " \n", + " \n", + " The concentration of calprotectin in the blood circulation is above the upper limit of normal.\n", + " definition of HP:6000502 (Elevated circulating calprotectin concentration)\n", + " \n", + " \n", + " Hepatic melanin-like lysosomal pigmentation\n", + " definition of HP:0034714 (Hepatic melanin-like lysosomal pigmentation)\n", + " \n", + " \n", + " Accumulation of dark, coarsely granular pigment localized in lysosomes of centrilobular hepatocytes.\n", + " definition of HP:0034714 (Hepatic melanin-like lysosomal pigmentation)\n", + " \n", + " \n", + " EMG: myokymic discharges\n", + " definition of HP:0100288 (EMG: myokymic discharges)\n", + " \n", + " \n", + " The presence of spontaneous bursts of rapidly firing potentials that recur at regular intervals of 2-10 per second and are unaffected by voluntary effort. This is an electromyographic (EMG) finding.\n", + " definition of HP:0100288 (EMG: myokymic discharges)\n", + " \n", + " \n", + " Gastrointestinal carcinoma\n", + " definition of HP:0002672 (Gastrointestinal carcinoma)\n", + " \n", + " \n", + " #GI carcinoma\n", + " definition of HP:0002672 (Gastrointestinal carcinoma)\n", + " \n", + " \n", + " Warm reactive autoantibody positivity\n", + " definition of HP:0025440 (Warm reactive autoantibody positivity)\n", + " \n", + " \n", + " Warm reactive autoantibodies are RBC-directed immune responses that are maximally reactive at 37 degrees C.\n", + " definition of HP:0025440 (Warm reactive autoantibody positivity)\n", + " \n", + " \n", + " Absent gallbladder\n", + " definition of HP:0011467 (Absent gallbladder)\n", + " \n", + " \n", + " A developmental defect in which the gallbladder fails to form.\n", + " definition of HP:0011467 (Absent gallbladder)\n", + " \n", + " \n", + " #Absent gallbladder #Agenesis of the gallbladder #Aplasia of the gallbladder\n", + " definition of HP:0011467 (Absent gallbladder)\n", + " \n", + " \n", + " Hyperlipoproteinemia\n", + " definition of HP:0010980 (Hyperlipoproteinemia)\n", + " \n", + " \n", + " An abnormal increase in the level of lipoprotein cholesterol in the blood.\n", + " definition of HP:0010980 (Hyperlipoproteinemia)\n", + " \n", + " \n", + " Abnormal hairshaft morphology\n", + " definition of HP:0003328 (Abnormal hairshaft morphology)\n", + " \n", + " \n", + " An abnormal structure of the hairshaft, i.e., of the nongrowing portion of a hair that protrudes from the skin.\n", + " definition of HP:0003328 (Abnormal hairshaft morphology)\n", + " \n", + " \n", + " Clinodactyly of hallux\n", + " definition of HP:0040018 (Clinodactyly of hallux)\n", + " \n", + " \n", + " Delusion of love\n", + " definition of HP:5200420 (Delusion of love)\n", + " \n", + " \n", + " A delusional belief that the person is secretly loved by another individual who is often of recognized fame or authoratative significance. There is typically no overt evidence and the delusional belief may be driven by falsely perceived indicators. Often there is a blend of erotic delusions and morbid infatuation.\n", + " definition of HP:5200420 (Delusion of love)\n", + " \n", + " \n", + " #De Clérambault syndrome #Erotomania #Psychose passionelle\n", + " definition of HP:5200420 (Delusion of love)\n", + " \n", + " \n", + " Autism\n", + " definition of HP:0000717 (Autism)\n", + " \n", + " \n", + " Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV).\n", + " definition of HP:0000717 (Autism)\n", + " \n", + " \n", + " #Autism\n", + " definition of HP:0000717 (Autism)\n", + " \n", + " \n", + " Sclerosis of the distal phalanx of the 3rd finger\n", + " definition of HP:0100901 (Sclerosis of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Increased bone density in the outermost bone of the middle finger\n", + " definition of HP:0100901 (Sclerosis of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Reduced 3-phosphoglycerate dehydrogenase activity\n", + " definition of HP:0034691 (Reduced 3-phosphoglycerate dehydrogenase activity)\n", + " \n", + " \n", + " Diminished activity of the enzyme 3-phosphoglycerate dehydrogenase (PGDH), which catalyzes the first step in the pathway by converting D-3-phosphoglycerate (PGA), an intermediate in glycolysis, to phosphohydroxypyruvate concomitant with the reduction of NAD+.\n", + " definition of HP:0034691 (Reduced 3-phosphoglycerate dehydrogenase activity)\n", + " \n", + " \n", + " Polymorphous posterior corneal dystrophy\n", + " definition of HP:0007915 (Polymorphous posterior corneal dystrophy)\n", + " \n", + " \n", + " This corneal dystrophy affects the posterior limiting membrane of the cornea and is characterized by polymorphous plaques of calcium deposits in the deep stromal layers of the cornea, and occasionally by vesicular lesions of the endothelium and edema of the deep corneal stroma.\n", + " definition of HP:0007915 (Polymorphous posterior corneal dystrophy)\n", + " \n", + " \n", + " Increased level of ribose in urine\n", + " definition of HP:0410072 (Increased level of ribose in urine)\n", + " \n", + " \n", + " An increase in the level of ribose in the urine.\n", + " definition of HP:0410072 (Increased level of ribose in urine)\n", + " \n", + " \n", + " Oral synechia\n", + " definition of HP:0010285 (Oral synechia)\n", + " \n", + " \n", + " Fibrous band between the mucosal surfaces of the upper and lower alveolar ridges.\n", + " definition of HP:0010285 (Oral synechia)\n", + " \n", + " \n", + " #Synechiae of the mouth\n", + " definition of HP:0010285 (Oral synechia)\n", + " \n", + " \n", + " Fractured metacarpophalangeal joint\n", + " definition of HP:0041173 (Fractured metacarpophalangeal joint)\n", + " \n", + " \n", + " A partial or complete breakage of the metacarpophalangeal joint.\n", + " definition of HP:0041173 (Fractured metacarpophalangeal joint)\n", + " \n", + " \n", + " #bone metacarpophalangeal joint\n", + " definition of HP:0041173 (Fractured metacarpophalangeal joint)\n", + " \n", + " \n", + " Hypoplasia of the frontal lobes\n", + " definition of HP:0007333 (Hypoplasia of the frontal lobes)\n", + " \n", + " \n", + " Underdevelopment of the frontal lobe of the cerebrum.\n", + " definition of HP:0007333 (Hypoplasia of the frontal lobes)\n", + " \n", + " \n", + " #Frontal lobe hypoplasia #Hypoplastic frontal lobes #Underdeveloped frontal lobe\n", + " definition of HP:0007333 (Hypoplasia of the frontal lobes)\n", + " \n", + " \n", + " Delayed closure of the anterior fontanelle\n", + " definition of HP:0001476 (Delayed closure of the anterior fontanelle)\n", + " \n", + " \n", + " A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life.\n", + " definition of HP:0001476 (Delayed closure of the anterior fontanelle)\n", + " \n", + " \n", + " #Delayed closure anterior fontanel #Delayed closure of anterior fontanelle #Delayed closure of the bregma sutures #Late closure of anterior fontanelle #Late closure of large anterior fontanel #Late closure of the bregma sutures #Later than typical closing of soft spot of skull #Persistent anterior fontanelle\n", + " definition of HP:0001476 (Delayed closure of the anterior fontanelle)\n", + " \n", + " \n", + " Abnormal mandible coronoid process morphology\n", + " definition of HP:3000078 (Abnormal mandible coronoid process morphology)\n", + " \n", + " \n", + " An abnormality of a mandible coronoid process.\n", + " definition of HP:3000078 (Abnormal mandible coronoid process morphology)\n", + " \n", + " \n", + " #Abnormality of mandible coronoid process\n", + " definition of HP:3000078 (Abnormal mandible coronoid process morphology)\n", + " \n", + " \n", + " Onset\n", + " definition of HP:0003674 (Onset)\n", + " \n", + " \n", + " The age group in which disease manifestations appear.\n", + " definition of HP:0003674 (Onset)\n", + " \n", + " \n", + " #Age of onset #Age symptoms begin\n", + " definition of HP:0003674 (Onset)\n", + " \n", + " \n", + " Moderate hearing impairment\n", + " definition of HP:0012713 (Moderate hearing impairment)\n", + " \n", + " \n", + " The presence of a moderate form of hearing impairment.\n", + " definition of HP:0012713 (Moderate hearing impairment)\n", + " \n", + " \n", + " #Moderate hearing impairment\n", + " definition of HP:0012713 (Moderate hearing impairment)\n", + " \n", + " \n", + " Ethylmalonic aciduria\n", + " definition of HP:0003219 (Ethylmalonic aciduria)\n", + " \n", + " \n", + " The concentration of ethylmalonic acid in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:0003219 (Ethylmalonic aciduria)\n", + " \n", + " \n", + " Pseudo-chilblains on fingers\n", + " definition of HP:0034037 (Pseudo-chilblains on fingers)\n", + " \n", + " \n", + " Inflammatory chilblain-like nodules on the hands and/or fingers.\n", + " definition of HP:0034037 (Pseudo-chilblains on fingers)\n", + " \n", + " \n", + " #COVID finger #COVID fingers\n", + " definition of HP:0034037 (Pseudo-chilblains on fingers)\n", + " \n", + " \n", + " Recurrent streptococcal infections\n", + " definition of HP:0020096 (Recurrent streptococcal infections)\n", + " \n", + " \n", + " Increased susceptibility to streptococcal infections, as manifested by recurrent episodes of streptococcal infections.\n", + " definition of HP:0020096 (Recurrent streptococcal infections)\n", + " \n", + " \n", + " Abnormal musculoskeletal physiology\n", + " definition of HP:0011843 (Abnormal musculoskeletal physiology)\n", + " \n", + " \n", + " An abnormality of the function of the skeletal system.\n", + " definition of HP:0011843 (Abnormal musculoskeletal physiology)\n", + " \n", + " \n", + " #Abnormality of musculoskeletal physiology\n", + " definition of HP:0011843 (Abnormal musculoskeletal physiology)\n", + " \n", + " \n", + " Bullet-shaped 1st metatarsal\n", + " definition of HP:0010069 (Bullet-shaped 1st metatarsal)\n", + " \n", + " \n", + " An abnormal morphology of the firstmetatarsal bone, which is short and wide and tapers distally, and lacks the normal diaphyseal constriction.\n", + " definition of HP:0010069 (Bullet-shaped 1st metatarsal)\n", + " \n", + " \n", + " #Bullet-shaped 1st long bone of foot\n", + " definition of HP:0010069 (Bullet-shaped 1st metatarsal)\n", + " \n", + " \n", + " Pointed ulna\n", + " definition of HP:0003990 (Pointed ulna)\n", + " \n", + " \n", + " Congenital muscular torticollis\n", + " definition of HP:0005988 (Congenital muscular torticollis)\n", + " \n", + " \n", + " A congenital form of torticollis resulting from shortening of the sternocleidomastoid muscle and leading to a limited range of motion in both rotation and lateral bending.\n", + " definition of HP:0005988 (Congenital muscular torticollis)\n", + " \n", + " \n", + " #Torticollis, congenital\n", + " definition of HP:0005988 (Congenital muscular torticollis)\n", + " \n", + " \n", + " Cataplexy\n", + " definition of HP:0002524 (Cataplexy)\n", + " \n", + " \n", + " A sudden and transient episode of bilateral loss of muscle tone, often triggered by emotions.\n", + " definition of HP:0002524 (Cataplexy)\n", + " \n", + " \n", + " Reduced circulating interleukin 27 concentration\n", + " definition of HP:0034174 (Reduced circulating interleukin 27 concentration)\n", + " \n", + " \n", + " An abnormally decreased concentration of interleukin 27 in the blood circulation.\n", + " definition of HP:0034174 (Reduced circulating interleukin 27 concentration)\n", + " \n", + " \n", + " Sclerosis of the distal phalanx of the hallux\n", + " definition of HP:0100944 (Sclerosis of the distal phalanx of the hallux)\n", + " \n", + " \n", + " #Increased bone density in the outermost bone of the big toe\n", + " definition of HP:0100944 (Sclerosis of the distal phalanx of the hallux)\n", + " \n", + " \n", + " Cerebral hemorrhage\n", + " definition of HP:0001342 (Cerebral hemorrhage)\n", + " \n", + " \n", + " Hemorrhage into the parenchyma of the brain.\n", + " definition of HP:0001342 (Cerebral hemorrhage)\n", + " \n", + " \n", + " #Bleeding in brain #Cerebral haemorrhage #Intracerebral haemorrhage #Intracerebral hemorrhage\n", + " definition of HP:0001342 (Cerebral hemorrhage)\n", + " \n", + " \n", + " Fundus hemorrhage\n", + " definition of HP:0031803 (Fundus hemorrhage)\n", + " \n", + " \n", + " Bleeding within the fundus of the eye.\n", + " definition of HP:0031803 (Fundus hemorrhage)\n", + " \n", + " \n", + " #Fundus haemorrhage\n", + " definition of HP:0031803 (Fundus hemorrhage)\n", + " \n", + " \n", + " Central posterior corneal opacity\n", + " definition of HP:0008511 (Central posterior corneal opacity)\n", + " \n", + " \n", + " Reduced transparency of the central posterior portion of the corneal stroma.\n", + " definition of HP:0008511 (Central posterior corneal opacity)\n", + " \n", + " \n", + " Macule\n", + " definition of HP:0012733 (Macule)\n", + " \n", + " \n", + " A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin.\n", + " definition of HP:0012733 (Macule)\n", + " \n", + " \n", + " #Flat, discolored area of skin #Flat, discoloured area of skin\n", + " definition of HP:0012733 (Macule)\n", + " \n", + " \n", + " Positive carpal Tinel sign\n", + " definition of HP:0033672 (Positive carpal Tinel sign)\n", + " \n", + " \n", + " The Tinel test is performed by lightly tapping (percussing) over the median nerve. It is positive (abnormal) if the patient experiences pain and paresthesias (tingling, numbness) along the distribution of the median nerve.\n", + " definition of HP:0033672 (Positive carpal Tinel sign)\n", + " \n", + " \n", + " #Positive carpal Hoffmann Tinel sign\n", + " definition of HP:0033672 (Positive carpal Tinel sign)\n", + " \n", + " \n", + " Focal aware perseverative automatism seizure\n", + " definition of HP:0032914 (Focal aware perseverative automatism seizure)\n", + " \n", + " \n", + " A type of focal automatism seizure characterized by inappropriate continuation of pre-seizure movement or behavior at onset and during which awareness is fully retained throughout.\n", + " definition of HP:0032914 (Focal aware perseverative automatism seizure)\n", + " \n", + " \n", + " Choroid plexus papilloma\n", + " definition of HP:0200022 (Choroid plexus papilloma)\n", + " \n", + " \n", + " Choroid plexus papilloma is a histologically benign neoplasm located in the ventricular system of the choroid plexus.\n", + " definition of HP:0200022 (Choroid plexus papilloma)\n", + " \n", + " \n", + " Necrotizing encephalopathy\n", + " definition of HP:0006976 (Necrotizing encephalopathy)\n", + " \n", + " \n", + " A type of encephalopathy (brain disease, damage, or malfunction accompanied by an altered mental state) that is characterized by evidence of necrosis of brain tissue.\n", + " definition of HP:0006976 (Necrotizing encephalopathy)\n", + " \n", + " \n", + " Abnormal localization of kidney\n", + " definition of HP:0100542 (Abnormal localization of kidney)\n", + " \n", + " \n", + " An abnormal site of the kidney.\n", + " definition of HP:0100542 (Abnormal localization of kidney)\n", + " \n", + " \n", + " #Abnormal localisation of kidneys\n", + " definition of HP:0100542 (Abnormal localization of kidney)\n", + " \n", + " \n", + " Hyperfibrinolysis\n", + " definition of HP:0040236 (Hyperfibrinolysis)\n", + " \n", + " \n", + " Increased degradation of fibrin, associated with clot instability and bleeding\n", + " definition of HP:0040236 (Hyperfibrinolysis)\n", + " \n", + " \n", + " Decreased circulating methylcobalamin concentration\n", + " definition of HP:0003223 (Decreased circulating methylcobalamin concentration)\n", + " \n", + " \n", + " The concentration of methylcobalamin in the blood circulation is below the lower limit of normal. Methylcobalamin is a form of vitamin B12.\n", + " definition of HP:0003223 (Decreased circulating methylcobalamin concentration)\n", + " \n", + " \n", + " #Decreased methylcobalamin #Methylcobalamin deficiency\n", + " definition of HP:0003223 (Decreased circulating methylcobalamin concentration)\n", + " \n", + " \n", + " Spinal rigidity\n", + " definition of HP:0003306 (Spinal rigidity)\n", + " \n", + " \n", + " Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion.\n", + " definition of HP:0003306 (Spinal rigidity)\n", + " \n", + " \n", + " #Reduced spine movement #Rigid spine\n", + " definition of HP:0003306 (Spinal rigidity)\n", + " \n", + " \n", + " Orthodromic atrioventricular reentrant tachycardia\n", + " definition of HP:0031673 (Orthodromic atrioventricular reentrant tachycardia)\n", + " \n", + " \n", + " A type of atrioventricular reentrant tachycardia (AVRT) where the atrioventricular node is used for anterograde conduction and the accessory pathway for retrograde conduction.\n", + " definition of HP:0031673 (Orthodromic atrioventricular reentrant tachycardia)\n", + " \n", + " \n", + " #Orthodromic AVRT\n", + " definition of HP:0031673 (Orthodromic atrioventricular reentrant tachycardia)\n", + " \n", + " \n", + " Dacrolith\n", + " definition of HP:6000131 (Dacrolith)\n", + " \n", + " \n", + " Dacryolith is a concretion (accumulation of sediment) within the nasolacrimal system.\n", + " definition of HP:6000131 (Dacrolith)\n", + " \n", + " \n", + " #Lacrimal calculus #Tear stone\n", + " definition of HP:6000131 (Dacrolith)\n", + " \n", + " \n", + " Decreased circulating carnitine concentration\n", + " definition of HP:0003234 (Decreased circulating carnitine concentration)\n", + " \n", + " \n", + " Concentration of carnitine in the blood circulation below the lower limit of normal.\n", + " definition of HP:0003234 (Decreased circulating carnitine concentration)\n", + " \n", + " \n", + " #Decreased plasma carnitine\n", + " definition of HP:0003234 (Decreased circulating carnitine concentration)\n", + " \n", + " \n", + " Abnormal rapid eye movement sleep\n", + " definition of HP:0002494 (Abnormal rapid eye movement sleep)\n", + " \n", + " \n", + " Abnormality of REM Sleep are phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tone except for the eye and middle-ear muscles. There are also phases of rapid eye movements.\n", + " definition of HP:0002494 (Abnormal rapid eye movement sleep)\n", + " \n", + " \n", + " #Abnormal REM sleep\n", + " definition of HP:0002494 (Abnormal rapid eye movement sleep)\n", + " \n", + " \n", + " Epiphyseal deformities of tubular bones\n", + " definition of HP:0003053 (Epiphyseal deformities of tubular bones)\n", + " \n", + " \n", + " Disturbed perception with a stimulus\n", + " definition of HP:5200204 (Disturbed perception with a stimulus)\n", + " \n", + " \n", + " A perceptual experience in which an individual's perception of sensory stimuli is altered or disrupted in some way, resulting in abnormal or distorted sensory perceptions despite the presence of actual external stimuli.\n", + " definition of HP:5200204 (Disturbed perception with a stimulus)\n", + " \n", + " \n", + " Dermal foam cells\n", + " definition of HP:6000859 (Dermal foam cells)\n", + " \n", + " \n", + " Presence of lipid-laden macrophages (foam cells) in the inner layer of the skin (dermis).\n", + " definition of HP:6000859 (Dermal foam cells)\n", + " \n", + " \n", + " Clitoral hypoplasia\n", + " definition of HP:0000060 (Clitoral hypoplasia)\n", + " \n", + " \n", + " Developmental hypoplasia of the clitoris.\n", + " definition of HP:0000060 (Clitoral hypoplasia)\n", + " \n", + " \n", + " #Hypoplastic clitoris #Small clitoris #Underdeveloped clit\n", + " definition of HP:0000060 (Clitoral hypoplasia)\n", + " \n", + " \n", + " Abnormal superoxide dismutase level\n", + " definition of HP:0031835 (Abnormal superoxide dismutase level)\n", + " \n", + " \n", + " An abnormal level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide.\n", + " definition of HP:0031835 (Abnormal superoxide dismutase level)\n", + " \n", + " \n", + " #Abnormal superoxide:superoxide oxidoreductase activity\n", + " definition of HP:0031835 (Abnormal superoxide dismutase level)\n", + " \n", + " \n", + " Lymph-node follicular lysis\n", + " definition of HP:0020246 (Lymph-node follicular lysis)\n", + " \n", + " \n", + " An abnormal morphology of hyperplastic lymph node follicles characterized by distortion of the follicular architecture by tongues and clusters of dark blue mantle cells impinging on and invading the reactive germinal center (Mostly T cells and mantle-zone B cells).\n", + " definition of HP:0020246 (Lymph-node follicular lysis)\n", + " \n", + " \n", + " #Follicular lysis\n", + " definition of HP:0020246 (Lymph-node follicular lysis)\n", + " \n", + " \n", + " Abnormal 4th metacarpal morphology\n", + " definition of HP:0010012 (Abnormal 4th metacarpal morphology)\n", + " \n", + " \n", + " Any abnormality of the fourth metacarpal bone.\n", + " definition of HP:0010012 (Abnormal 4th metacarpal morphology)\n", + " \n", + " \n", + " #Abnormality of the 4th long bone of hand #Abnormality of the 4th metacarpal\n", + " definition of HP:0010012 (Abnormal 4th metacarpal morphology)\n", + " \n", + " \n", + " Abnormal retinol-binding protein level\n", + " definition of HP:0031031 (Abnormal retinol-binding protein level)\n", + " \n", + " \n", + " A deviation from normal blood concentration of retinol-binding protein (RBP). The most commonly used indicator of vitamin A status is the serum retinol concentration (retinol is one of the several compounds known as vitamin A). The serum RBP concentration is used as a surrogate measure for serum retinol.\n", + " definition of HP:0031031 (Abnormal retinol-binding protein level)\n", + " \n", + " \n", + " Lymphangioma of the orbit\n", + " definition of HP:0500091 (Lymphangioma of the orbit)\n", + " \n", + " \n", + " A hamartoma of lymph vessels that usually presents in childhood. It tends to increase in size with head-down posture and with the Valsalva maneuver. Superficial lesions are visible as transilluminable cystic spaces of the lid or conjunctiva that may also contain blood. Deep lesions may cause gradual proptosis or present acutely with orbital pain and reduced vision due to hemorrhage.\n", + " definition of HP:0500091 (Lymphangioma of the orbit)\n", + " \n", + " \n", + " Neoplasm of the male external genitalia\n", + " definition of HP:0100848 (Neoplasm of the male external genitalia)\n", + " \n", + " \n", + " A tumor (abnormal growth of tissue) of the male external genitalia.\n", + " definition of HP:0100848 (Neoplasm of the male external genitalia)\n", + " \n", + " \n", + " #Neoplasia of the male external genitalia\n", + " definition of HP:0100848 (Neoplasm of the male external genitalia)\n", + " \n", + " \n", + " Partial absence of specific antibody response to unconjugated pneumococcus vaccine\n", + " definition of HP:0410301 (Partial absence of specific antibody response to unconjugated pneumococcus vaccine)\n", + " \n", + " \n", + " A reduced ability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination.\n", + " definition of HP:0410301 (Partial absence of specific antibody response to unconjugated pneumococcus vaccine)\n", + " \n", + " \n", + " Abnormal circulating creatinine concentration\n", + " definition of HP:0012100 (Abnormal circulating creatinine concentration)\n", + " \n", + " \n", + " An abnormal concentration of creatinine in the blood.\n", + " definition of HP:0012100 (Abnormal circulating creatinine concentration)\n", + " \n", + " \n", + " #Abnormal blood creatinine level #Abnormal circulating creatinine level #Creatinine levels abnormal\n", + " definition of HP:0012100 (Abnormal circulating creatinine concentration)\n", + " \n", + " \n", + " Anti-H1 antibody positivity\n", + " definition of HP:0033572 (Anti-H1 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies in the blood circulation that react against histone H1.\n", + " definition of HP:0033572 (Anti-H1 antibody positivity)\n", + " \n", + " \n", + " Tongue nodules\n", + " definition of HP:0000199 (Tongue nodules)\n", + " \n", + " \n", + " #Lingual nodules\n", + " definition of HP:0000199 (Tongue nodules)\n", + " \n", + " \n", + " Prominent nasal bridge\n", + " definition of HP:0000426 (Prominent nasal bridge)\n", + " \n", + " \n", + " Anterior positioning of the nasal root in comparison to the usual positioning for age.\n", + " definition of HP:0000426 (Prominent nasal bridge)\n", + " \n", + " \n", + " #Elevated nasal bridge #High nasal bridge #Prominent bridge of nose #Prominent nasal bridge #Prominent nasal root #Protruding bridge of nose #Protruding nasal bridge\n", + " definition of HP:0000426 (Prominent nasal bridge)\n", + " \n", + " \n", + " Abnormality of the eleventh cranial nerve\n", + " definition of HP:0010825 (Abnormality of the eleventh cranial nerve)\n", + " \n", + " \n", + " Abnormality of the eleventh cranial nerve.\n", + " definition of HP:0010825 (Abnormality of the eleventh cranial nerve)\n", + " \n", + " \n", + " #Abnormality of cranial nerve XI #Abnormality of the accessory nerve\n", + " definition of HP:0010825 (Abnormality of the eleventh cranial nerve)\n", + " \n", + " \n", + " Decreased adipose tissue tocopherol level\n", + " definition of HP:0032655 (Decreased adipose tissue tocopherol level)\n", + " \n", + " \n", + " A reduced concentration of tocopherol in fat tissue.\n", + " definition of HP:0032655 (Decreased adipose tissue tocopherol level)\n", + " \n", + " \n", + " Hand tremor\n", + " definition of HP:0002378 (Hand tremor)\n", + " \n", + " \n", + " An unintentional, oscillating to-and-fro muscle movement affecting the hand.\n", + " definition of HP:0002378 (Hand tremor)\n", + " \n", + " \n", + " #Hand tremor #Tremor of hand #Tremor of hands #tremors in hands\n", + " definition of HP:0002378 (Hand tremor)\n", + " \n", + " \n", + " Adamantinoma\n", + " definition of HP:0034525 (Adamantinoma)\n", + " \n", + " \n", + " A primary low-grade, malignant bone tumor that is predominantly located in the mid-portion of the tibia. Histologically, classic adamantinoma is a biphasic tumor characterized by epithelial and osteofibrous components that may be intermingled with each other in various proportions and differentiating patterns.\n", + " definition of HP:0034525 (Adamantinoma)\n", + " \n", + " \n", + " Odontogenic keratocysts of the jaw\n", + " definition of HP:0010603 (Odontogenic keratocysts of the jaw)\n", + " \n", + " \n", + " A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behavior.\n", + " definition of HP:0010603 (Odontogenic keratocysts of the jaw)\n", + " \n", + " \n", + " #Keratocystic odontogenic tumor #Keratocystic odontogenic tumour #Keratocysts of the jaw\n", + " definition of HP:0010603 (Odontogenic keratocysts of the jaw)\n", + " \n", + " \n", + " Cerebellar medulloblastoma\n", + " definition of HP:0007129 (Cerebellar medulloblastoma)\n", + " \n", + " \n", + " Bronchial telangiectasia\n", + " definition of HP:0033370 (Bronchial telangiectasia)\n", + " \n", + " \n", + " Telangiectasias (small dilated blood vessels located near the surface of the skin or mucous membranes) located in the trachoebronchial system.\n", + " definition of HP:0033370 (Bronchial telangiectasia)\n", + " \n", + " \n", + " #Endobronchial telangiectasia\n", + " definition of HP:0033370 (Bronchial telangiectasia)\n", + " \n", + " \n", + " High posterior hairline\n", + " definition of HP:0012891 (High posterior hairline)\n", + " \n", + " \n", + " Hair on the neck extends less inferiorly than usual.\n", + " definition of HP:0012891 (High posterior hairline)\n", + " \n", + " \n", + " #High hairline at back of head\n", + " definition of HP:0012891 (High posterior hairline)\n", + " \n", + " \n", + " Abnormal glucagon level\n", + " definition of HP:0030687 (Abnormal glucagon level)\n", + " \n", + " \n", + " A deviation from the normal concentration of glucagon in the blood circulation.\n", + " definition of HP:0030687 (Abnormal glucagon level)\n", + " \n", + " \n", + " Partial duplication of the phalanx of hand\n", + " definition of HP:0009999 (Partial duplication of the phalanx of hand)\n", + " \n", + " \n", + " A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.\n", + " definition of HP:0009999 (Partial duplication of the phalanx of hand)\n", + " \n", + " \n", + " #Partial duplication of hand bones\n", + " definition of HP:0009999 (Partial duplication of the phalanx of hand)\n", + " \n", + " \n", + " Asymmetry of the mandible\n", + " definition of HP:0009940 (Asymmetry of the mandible)\n", + " \n", + " \n", + " Lack of symmetry between the left and right mandible.\n", + " definition of HP:0009940 (Asymmetry of the mandible)\n", + " \n", + " \n", + " #Asymmetry of lower jaw #Canted lower jaw #Canted mandible #Crooked lower jaw #Deviation of lower jaw #Deviation of mandible #Lower jaw shifted to one side #Tilted lower jaw #Uneven lower jaw #Uneven mandible\n", + " definition of HP:0009940 (Asymmetry of the mandible)\n", + " \n", + " \n", + " Hyposegmentation of neutrophil nuclei in CSF\n", + " definition of HP:0410311 (Hyposegmentation of neutrophil nuclei in CSF)\n", + " \n", + " \n", + " Hyposegmented (hypolobulated) or bilobed neutrophil nuclei in the cerebrospinal fluid.\n", + " definition of HP:0410311 (Hyposegmentation of neutrophil nuclei in CSF)\n", + " \n", + " \n", + " #Hyposegmentation of neutrophil nuclei in cerebrospinal fluid\n", + " definition of HP:0410311 (Hyposegmentation of neutrophil nuclei in CSF)\n", + " \n", + " \n", + " Abnormal positive emotional state\n", + " definition of HP:0025767 (Abnormal positive emotional state)\n", + " \n", + " \n", + " Persistent and pathologically elevated emotional experiences, preoccupations, or internal state that may arise spontaneously or may be related to positive perceptions of self, the world, and the future.\n", + " definition of HP:0025767 (Abnormal positive emotional state)\n", + " \n", + " \n", + " #Positive emotion disturbance\n", + " definition of HP:0025767 (Abnormal positive emotional state)\n", + " \n", + " \n", + " Focal tonic seizure\n", + " definition of HP:0011167 (Focal tonic seizure)\n", + " \n", + " \n", + " A type of focal motor seizure characterized by sustained increase in muscle contraction, lasting a few seconds to minutes.\n", + " definition of HP:0011167 (Focal tonic seizure)\n", + " \n", + " \n", + " #Focal tonic seizures #Local tonic seizures #Localised tonic seizure #Localized tonic seizure #Partial tonic seizure #Partial tonic seizures #Segmental tonic seizure\n", + " definition of HP:0011167 (Focal tonic seizure)\n", + " \n", + " \n", + " Lack of pupillary response to hydroxyamphetamine\n", + " definition of HP:6000994 (Lack of pupillary response to hydroxyamphetamine)\n", + " \n", + " \n", + " 4-hydroxyamphetamine is used in eye drops to dilate the pupil, e.g.., to induce mydriasis for fundus examinations. This term refers to a lack of response of the pupil to topical application of 4-hydroxyamphetamine.\n", + " definition of HP:6000994 (Lack of pupillary response to hydroxyamphetamine)\n", + " \n", + " \n", + " Hypopyon\n", + " definition of HP:0031615 (Hypopyon)\n", + " \n", + " \n", + " Presence of pus (appears as a white fluid) producing a fluid level in the inferior part of the anterior chamber.\n", + " definition of HP:0031615 (Hypopyon)\n", + " \n", + " \n", + " Choanal atresia\n", + " definition of HP:0000453 (Choanal atresia)\n", + " \n", + " \n", + " Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral.\n", + " definition of HP:0000453 (Choanal atresia)\n", + " \n", + " \n", + " #Blockage of the rear opening of the nasal cavity\n", + " definition of HP:0000453 (Choanal atresia)\n", + " \n", + " \n", + " Shortening of all phalanges of fingers\n", + " definition of HP:0011910 (Shortening of all phalanges of fingers)\n", + " \n", + " \n", + " Abnormal reduction in length affecting all phalanges.\n", + " definition of HP:0011910 (Shortening of all phalanges of fingers)\n", + " \n", + " \n", + " #Shortening of all finger bones\n", + " definition of HP:0011910 (Shortening of all phalanges of fingers)\n", + " \n", + " \n", + " Reduced granulocyte CD16 level\n", + " definition of HP:0031556 (Reduced granulocyte CD16 level)\n", + " \n", + " \n", + " Reduced level of CD16 on the granulocyte surface as assessed by flow cytometry.\n", + " definition of HP:0031556 (Reduced granulocyte CD16 level)\n", + " \n", + " \n", + " Abnormal urinary uromodulin level\n", + " definition of HP:0034885 (Abnormal urinary uromodulin level)\n", + " \n", + " \n", + " The concentration of uromodulin (also known as Tamm Horsfall protein) in the urine, normalized for usine concentration, is outside the limits of normal.\n", + " definition of HP:0034885 (Abnormal urinary uromodulin level)\n", + " \n", + " \n", + " Small proximal tibial epiphyses\n", + " definition of HP:0012284 (Small proximal tibial epiphyses)\n", + " \n", + " \n", + " Reduced size of the proximal epiphysis of the tibia.\n", + " definition of HP:0012284 (Small proximal tibial epiphyses)\n", + " \n", + " \n", + " #Small end part of innermost shankbone #Small end part of innermost shinbone\n", + " definition of HP:0012284 (Small proximal tibial epiphyses)\n", + " \n", + " \n", + " Abnormal salivary cortisol level\n", + " definition of HP:0033013 (Abnormal salivary cortisol level)\n", + " \n", + " \n", + " Any deviation from the normal concentration of cortisol in saliva.\n", + " definition of HP:0033013 (Abnormal salivary cortisol level)\n", + " \n", + " \n", + " Focal hyperextensible skin\n", + " definition of HP:0007458 (Focal hyperextensible skin)\n", + " \n", + " \n", + " Decreased number of sternal ossification centers\n", + " definition of HP:0006611 (Decreased number of sternal ossification centers)\n", + " \n", + " \n", + " A less than normal number of sternal ossification centers. The sternum is initially formed from bilateral sternal plates that chondrify and begin to fuse with ribs at 10 weeks gestational age. Ossification starts in the manubrium and upper part of the sternal body at the 6th month, in the middle of the sternal body at the 7th month, in the lower part of the body during the 1st postnatal year and in the xiphoid process between years 5 and 18. The number of ossification centers vary up to six, and it is the ossification centers that are visualized by prenatal ultrasound. This term describes a reduction in the number of ossification centers compared with age-related norms.\n", + " definition of HP:0006611 (Decreased number of sternal ossification centers)\n", + " \n", + " \n", + " #Decreased number of sternal ossification centres\n", + " definition of HP:0006611 (Decreased number of sternal ossification centers)\n", + " \n", + " \n", + " Asymmetric peripheral demyelination\n", + " definition of HP:0030176 (Asymmetric peripheral demyelination)\n", + " \n", + " \n", + " Loss of myelin from peripheral nerves in a pattern that differs between right and left.\n", + " definition of HP:0030176 (Asymmetric peripheral demyelination)\n", + " \n", + " \n", + " Abnormal nipple morphology\n", + " definition of HP:0004404 (Abnormal nipple morphology)\n", + " \n", + " \n", + " An abnormality of the nipple.\n", + " definition of HP:0004404 (Abnormal nipple morphology)\n", + " \n", + " \n", + " #Abnormality of the nipple\n", + " definition of HP:0004404 (Abnormal nipple morphology)\n", + " \n", + " \n", + " Abnormal distal ulnar epiphysis morphology\n", + " definition of HP:0010600 (Abnormal distal ulnar epiphysis morphology)\n", + " \n", + " \n", + " Any abnormality of the distal epiphysis of the ulna.\n", + " definition of HP:0010600 (Abnormal distal ulnar epiphysis morphology)\n", + " \n", + " \n", + " #Abnormality of the distal ulnar epiphysis\n", + " definition of HP:0010600 (Abnormal distal ulnar epiphysis morphology)\n", + " \n", + " \n", + " Low semen volume\n", + " definition of HP:6000135 (Low semen volume)\n", + " \n", + " \n", + " Volume of semen in ejaculate below the lower limit of normal. This finding can be ascertained by semen analysis. Comment: Sperm are produced within the testis, in the process of spermatogenesis, then travel through the male reproductive tract (the seminiferous tubules, epididymis, vas deferens, prostate and urethra). As the sperm travel, seminal fluid is added from the seminal vesicles, prostate, testis and epididymis and periurethral glands. The function of the ejaculate is to transport sperm into the female genital tract and to provide a suitable environment for sperm survival during this transit.\n", + " definition of HP:6000135 (Low semen volume)\n", + " \n", + " \n", + " #Hypospermia\n", + " definition of HP:6000135 (Low semen volume)\n", + " \n", + " \n", + " Abnormal granulocyte count\n", + " definition of HP:0032309 (Abnormal granulocyte count)\n", + " \n", + " \n", + " Any deviation from the normal cell count per volume of granulocytes in the blood circulation.\n", + " definition of HP:0032309 (Abnormal granulocyte count)\n", + " \n", + " \n", + " Abnormal timing of pattern electroretinogram\n", + " definition of HP:0030486 (Abnormal timing of pattern electroretinogram)\n", + " \n", + " \n", + " Menorrhagia\n", + " definition of HP:0000132 (Menorrhagia)\n", + " \n", + " \n", + " Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.\n", + " definition of HP:0000132 (Menorrhagia)\n", + " \n", + " \n", + " #Abnormally heavy bleeding during menstruation #Abnormally heavy periods #Hypermenorrhea\n", + " definition of HP:0000132 (Menorrhagia)\n", + " \n", + " \n", + " Short thorax\n", + " definition of HP:0010306 (Short thorax)\n", + " \n", + " \n", + " Reduced inferior to superior extent of the thorax.\n", + " definition of HP:0010306 (Short thorax)\n", + " \n", + " \n", + " #Shorter than typical length between neck and abdomen\n", + " definition of HP:0010306 (Short thorax)\n", + " \n", + " \n", + " Impaired von Willebrand factor collagen binding activity\n", + " definition of HP:0030130 (Impaired von Willebrand factor collagen binding activity)\n", + " \n", + " \n", + " Reduced ability of von Willebrand factor (vWF) to bind collagen. Abnormal response to collagen as manifested by reduced or lacking ability of plasma von WIllebrand Factor to bind collagen. An ELISA-based assay is typically used; the test is sensitive to loss of von Willebrand Factor high molecular weight multimers.\n", + " definition of HP:0030130 (Impaired von Willebrand factor collagen binding activity)\n", + " \n", + " \n", + " Irregular epiphysis of the middle phalanx of the 4th toe\n", + " definition of HP:0100185 (Irregular epiphysis of the middle phalanx of the 4th toe)\n", + " \n", + " \n", + " #Irregular end part of the middle bone of the 4th toe\n", + " definition of HP:0100185 (Irregular epiphysis of the middle phalanx of the 4th toe)\n", + " \n", + " \n", + " Bracket epiphysis of the distal phalanx of the 2nd toe\n", + " definition of HP:0100101 (Bracket epiphysis of the distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Bracket shaped end part of the outermost bone of the 2nd toe\n", + " definition of HP:0100101 (Bracket epiphysis of the distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Abnormality of the skin\n", + " definition of HP:0000951 (Abnormality of the skin)\n", + " \n", + " \n", + " An abnormality of the skin.\n", + " definition of HP:0000951 (Abnormality of the skin)\n", + " \n", + " \n", + " #Abnormality of the skin #Dermatopathy #Dermopathy\n", + " definition of HP:0000951 (Abnormality of the skin)\n", + " \n", + " \n", + " Symmetric distribution\n", + " definition of HP:6000857 (Symmetric distribution)\n", + " \n", + " \n", + " Applies to an abnormality that is highly similar on the left and right sides of the body.\n", + " definition of HP:6000857 (Symmetric distribution)\n", + " \n", + " \n", + " Subluxation of metacarpal phalangeal joints\n", + " definition of HP:0004294 (Subluxation of metacarpal phalangeal joints)\n", + " \n", + " \n", + " A partial dislocation affecting some or all of the metacarpophalangeal joints.\n", + " definition of HP:0004294 (Subluxation of metacarpal phalangeal joints)\n", + " \n", + " \n", + " #Partial knuckle dislocation #Subluxation of metacarpophalangeal joints\n", + " definition of HP:0004294 (Subluxation of metacarpal phalangeal joints)\n", + " \n", + " \n", + " Dysplastic sacrum\n", + " definition of HP:0008455 (Dysplastic sacrum)\n", + " \n", + " \n", + " A developmental defect of the sacrum characterized by partial or disordered development of the sacrum in which portions of the sacrum, which normally is formed by fusion of five sacral vertebrae S1-S5, fail to form or fail to form normally.\n", + " definition of HP:0008455 (Dysplastic sacrum)\n", + " \n", + " \n", + " #Absence of some of the sacral and coccygeal bones #Partial sacral agenesis #Sacral dysgenesis\n", + " definition of HP:0008455 (Dysplastic sacrum)\n", + " \n", + " \n", + " Broad skull\n", + " definition of HP:0002682 (Broad skull)\n", + " \n", + " \n", + " Increased width of the skull.\n", + " definition of HP:0002682 (Broad skull)\n", + " \n", + " \n", + " #Broad cranium #Broad skull #Increased width of cranium #Increased width of skull #Wide cranium #Wide skull\n", + " definition of HP:0002682 (Broad skull)\n", + " \n", + " \n", + " Stippled calcification of the shoulder\n", + " definition of HP:0003836 (Stippled calcification of the shoulder)\n", + " \n", + " \n", + " Aberrant melanosome maturation\n", + " definition of HP:0007384 (Aberrant melanosome maturation)\n", + " \n", + " \n", + " Loss of facial adipose tissue\n", + " definition of HP:0000292 (Loss of facial adipose tissue)\n", + " \n", + " \n", + " Loss of normal subcutaneous fat tissue in the face.\n", + " definition of HP:0000292 (Loss of facial adipose tissue)\n", + " \n", + " \n", + " #Decreased amount of facial adipose tissue #Decreased amount of facial fat #Decreased volume of facial adipose tissue #Loss of facial fat #Loss of facial subcutaneous adipose tissue #Loss of subcutaneous adipose tissue from face\n", + " definition of HP:0000292 (Loss of facial adipose tissue)\n", + " \n", + " \n", + " Premature birth following premature rupture of fetal membranes\n", + " definition of HP:0005100 (Premature birth following premature rupture of fetal membranes)\n", + " \n", + " \n", + " #Premature birth following premature rupture of foetal membranes\n", + " definition of HP:0005100 (Premature birth following premature rupture of fetal membranes)\n", + " \n", + " \n", + " Ectopic thyroid\n", + " definition of HP:0100028 (Ectopic thyroid)\n", + " \n", + " \n", + " Mislocalised thyroid gland.\n", + " definition of HP:0100028 (Ectopic thyroid)\n", + " \n", + " \n", + " #Aberrant thyroid #Aberrant thyroid gland #Abnormal thyroid location #Ectopic thyroid gland #Heteropic thyroid gland\n", + " definition of HP:0100028 (Ectopic thyroid)\n", + " \n", + " \n", + " Abnormal CSF glutamate concentration\n", + " definition of HP:0500199 (Abnormal CSF glutamate concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of glutamic acid in the cerebrospinal fluid.\n", + " definition of HP:0500199 (Abnormal CSF glutamate concentration)\n", + " \n", + " \n", + " #Abnormal glutamic acid levels in cerebrospinal fluid\n", + " definition of HP:0500199 (Abnormal CSF glutamate concentration)\n", + " \n", + " \n", + " Pectoralis amyotrophy\n", + " definition of HP:0012037 (Pectoralis amyotrophy)\n", + " \n", + " \n", + " Wasting of the pectoral muscles, i.e., of the pectoralis major and pectoralis minor. This finding is often manifested by prominent axillary creases or double axillary creases.\n", + " definition of HP:0012037 (Pectoralis amyotrophy)\n", + " \n", + " \n", + " #Wasting of pec muscles\n", + " definition of HP:0012037 (Pectoralis amyotrophy)\n", + " \n", + " \n", + " Increased pituitary glycoprotein hormone alpha subunit level\n", + " definition of HP:0031208 (Increased pituitary glycoprotein hormone alpha subunit level)\n", + " \n", + " \n", + " An increased concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081). This alpha subunit is common to luteinizing hormone (LH) , follicle stimulating hormone (FSH) , thyroid stimulating hormone (TSH) and human chorionic gonadotropin (hCG), which are glycoprotein hormones composed of an identical alpha subunit together with a beta subunit that confers biological specificity. The alpha subunit is used as a marker for tumors that produce these hormones.\n", + " definition of HP:0031208 (Increased pituitary glycoprotein hormone alpha subunit level)\n", + " \n", + " \n", + " #Increased pituitary glycoprotein alpha subunit level #Increased pituitary glycoprotein polypeptide alpha subunit level\n", + " definition of HP:0031208 (Increased pituitary glycoprotein hormone alpha subunit level)\n", + " \n", + " \n", + " Hydranencephaly\n", + " definition of HP:0002324 (Hydranencephaly)\n", + " \n", + " \n", + " A defect of development of the brain characterized by replacement of greater portions of the cerebral hemispheres and the corpus striatum by cerebrospinal fluid (CSF) and glial tissue.\n", + " definition of HP:0002324 (Hydranencephaly)\n", + " \n", + " \n", + " #Hydrancephaly\n", + " definition of HP:0002324 (Hydranencephaly)\n", + " \n", + " \n", + " Malrotation of small bowel\n", + " definition of HP:0004794 (Malrotation of small bowel)\n", + " \n", + " \n", + " A deviation from the normal rotation of the midgut during embryologic development with mislocalization of the small bowel.\n", + " definition of HP:0004794 (Malrotation of small bowel)\n", + " \n", + " \n", + " #Malrotation of the small intestine\n", + " definition of HP:0004794 (Malrotation of small bowel)\n", + " \n", + " \n", + " Vitreoretinopathy\n", + " definition of HP:0007773 (Vitreoretinopathy)\n", + " \n", + " \n", + " Ocular abnormality characterized by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment.\n", + " definition of HP:0007773 (Vitreoretinopathy)\n", + " \n", + " \n", + " #Vitreoretinal abnormality #Vitreoretinal degeneration\n", + " definition of HP:0007773 (Vitreoretinopathy)\n", + " \n", + " \n", + " Abnormal intervertebral disk morphology\n", + " definition of HP:0005108 (Abnormal intervertebral disk morphology)\n", + " \n", + " \n", + " Any structural abnormality of the intervertebral disk.\n", + " definition of HP:0005108 (Abnormal intervertebral disk morphology)\n", + " \n", + " \n", + " #Abnormality of the intervertebral disc #Abnormality of the intervertebral disk\n", + " definition of HP:0005108 (Abnormal intervertebral disk morphology)\n", + " \n", + " \n", + " Short columella\n", + " definition of HP:0002000 (Short columella)\n", + " \n", + " \n", + " Reduced distance from the anterior border of the naris to the subnasale.\n", + " definition of HP:0002000 (Short columella)\n", + " \n", + " \n", + " #Columella, short #Decreased length of columella\n", + " definition of HP:0002000 (Short columella)\n", + " \n", + " \n", + " Perihilar glomerular hyalinosis\n", + " definition of HP:0033217 (Perihilar glomerular hyalinosis)\n", + " \n", + " \n", + " Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the vascular pole/perihilum.\n", + " definition of HP:0033217 (Perihilar glomerular hyalinosis)\n", + " \n", + " \n", + " Slender radius\n", + " definition of HP:0040062 (Slender radius)\n", + " \n", + " \n", + " Decreased circulating free T3\n", + " definition of HP:0032210 (Decreased circulating free T3)\n", + " \n", + " \n", + " A reduced concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation.\n", + " definition of HP:0032210 (Decreased circulating free T3)\n", + " \n", + " \n", + " #Decreased circulating free triiodothyronine\n", + " definition of HP:0032210 (Decreased circulating free T3)\n", + " \n", + " \n", + " Encopresis\n", + " definition of HP:0040183 (Encopresis)\n", + " \n", + " \n", + " #Stool holding #Stool soiling\n", + " definition of HP:0040183 (Encopresis)\n", + " \n", + " \n", + " Secondary esotropia\n", + " definition of HP:0031723 (Secondary esotropia)\n", + " \n", + " \n", + " Convergent squint which follows loss or impairment of vision.\n", + " definition of HP:0031723 (Secondary esotropia)\n", + " \n", + " \n", + " #Sensory esotropia\n", + " definition of HP:0031723 (Secondary esotropia)\n", + " \n", + " \n", + " Flexural lichenification\n", + " definition of HP:0007453 (Flexural lichenification)\n", + " \n", + " \n", + " Lichenification affecting primarily flexural areas of the skin.\n", + " definition of HP:0007453 (Flexural lichenification)\n", + " \n", + " \n", + " Increased micromegakaryocyte count\n", + " definition of HP:0031386 (Increased micromegakaryocyte count)\n", + " \n", + " \n", + " The presence of abnormally high numbers of micromegakaryocytes in the bone marrow. Micromegakaryocytes are mononuclear diploid cells, with a nucleus similar in size to that of a myeloblast or promyelocyte with the cell being less than 30 micrometers in diameter.\n", + " definition of HP:0031386 (Increased micromegakaryocyte count)\n", + " \n", + " \n", + " Claustrophobia\n", + " definition of HP:0025253 (Claustrophobia)\n", + " \n", + " \n", + " An abnormal fear of being in a closed or narrow space with no escape is called claustrophobia.\n", + " definition of HP:0025253 (Claustrophobia)\n", + " \n", + " \n", + " Reduced plasminogen activator inhibitor 1 antigen\n", + " definition of HP:0040249 (Reduced plasminogen activator inhibitor 1 antigen)\n", + " \n", + " \n", + " Reduced level of plasminogen activator inhibitor 1 antigen.\n", + " definition of HP:0040249 (Reduced plasminogen activator inhibitor 1 antigen)\n", + " \n", + " \n", + " Secondary vesicoureteral reflux\n", + " definition of HP:0033739 (Secondary vesicoureteral reflux)\n", + " \n", + " \n", + " Vesicoureteral reflux induced by increased bladder pressures in patients with voiding dysfunction e.g. in case of congenital posterior urethral valves or neurogenic bladder dysfunction.\n", + " definition of HP:0033739 (Secondary vesicoureteral reflux)\n", + " \n", + " \n", + " Postnatal macrocephaly\n", + " definition of HP:0005490 (Postnatal macrocephaly)\n", + " \n", + " \n", + " The postnatal development of an abnormally large skull (macrocephaly).\n", + " definition of HP:0005490 (Postnatal macrocephaly)\n", + " \n", + " \n", + " #Macrocephaly, postnatal\n", + " definition of HP:0005490 (Postnatal macrocephaly)\n", + " \n", + " \n", + " Cardiac mass\n", + " definition of HP:6000847 (Cardiac mass)\n", + " \n", + " \n", + " An abnormal enlargement or swelling localized in the heart. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.\n", + " definition of HP:6000847 (Cardiac mass)\n", + " \n", + " \n", + " Retroperitoneal mass\n", + " definition of HP:6000285 (Retroperitoneal mass)\n", + " \n", + " \n", + " A swelling or enlargement localized to the retroperitoneal region. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.\n", + " definition of HP:6000285 (Retroperitoneal mass)\n", + " \n", + " \n", + " Posterior cortical cataract\n", + " definition of HP:0010924 (Posterior cortical cataract)\n", + " \n", + " \n", + " A cataract that affects the posterior part of the cortex of the lens.\n", + " definition of HP:0010924 (Posterior cortical cataract)\n", + " \n", + " \n", + " Generalized bone demineralization\n", + " definition of HP:0006462 (Generalized bone demineralization)\n", + " \n", + " \n", + " A generalized decrease in bone mineral density.\n", + " definition of HP:0006462 (Generalized bone demineralization)\n", + " \n", + " \n", + " #Generalised bone demineralization\n", + " definition of HP:0006462 (Generalized bone demineralization)\n", + " \n", + " \n", + " Congenital craniofacial dysostosis\n", + " definition of HP:0008497 (Congenital craniofacial dysostosis)\n", + " \n", + " \n", + " Interictal EEG abnormality\n", + " definition of HP:0025373 (Interictal EEG abnormality)\n", + " \n", + " \n", + " Interictal refers to a period of time between epileptic seizures. Electroencephalographic (EEG) patterns are important in the differential diagnosis of epilepsy, and the EEG is almost always abnormal during a seizure. Some persons with seizures may show EEG abnormalities between seizures, while others do not. In some cases, multiple interictal EEGs must be recorded before an abnormality is observed. In most cases the electrographic pattern of seizure onset is completely different from the activity recorded during interictal discharge.\n", + " definition of HP:0025373 (Interictal EEG abnormality)\n", + " \n", + " \n", + " Atypical neurofibromatosis\n", + " definition of HP:0007524 (Atypical neurofibromatosis)\n", + " \n", + " \n", + " Reduced muscle aconitase activity\n", + " definition of HP:0034511 (Reduced muscle aconitase activity)\n", + " \n", + " \n", + " Diminished activity of the enzyne aconitase in muscle tissue.\n", + " definition of HP:0034511 (Reduced muscle aconitase activity)\n", + " \n", + " \n", + " #Muscle biopsy: aconitase deficiency\n", + " definition of HP:0034511 (Reduced muscle aconitase activity)\n", + " \n", + " \n", + " Bracket epiphysis of the middle phalanx of the 5th toe\n", + " definition of HP:0100214 (Bracket epiphysis of the middle phalanx of the 5th toe)\n", + " \n", + " \n", + " #Bracket shaped end part of the middle bone of the little toe #Bracket shaped end part of the middle bone of the pinkie toe #Bracket shaped end part of the middle bone of the pinky toe\n", + " definition of HP:0100214 (Bracket epiphysis of the middle phalanx of the 5th toe)\n", + " \n", + " \n", + " Amyloid deposition in the vitreous humor\n", + " definition of HP:0007841 (Amyloid deposition in the vitreous humor)\n", + " \n", + " \n", + " Deposition of hyaline extracellular material (amyloid) into the vitreous humor, which can manifest as vitreous opacities and reduced visual acuity.\n", + " definition of HP:0007841 (Amyloid deposition in the vitreous humor)\n", + " \n", + " \n", + " #Amyloid deposition in the vitreous humour #Vitreous amyloid deposits\n", + " definition of HP:0007841 (Amyloid deposition in the vitreous humor)\n", + " \n", + " \n", + " Marked delay in bone age\n", + " definition of HP:0003799 (Marked delay in bone age)\n", + " \n", + " \n", + " #Marked delay in bone age #Marked retardation in skeletal maturation #Markedly retarded bone age\n", + " definition of HP:0003799 (Marked delay in bone age)\n", + " \n", + " \n", + " Masseter muscular weakness\n", + " definition of HP:0032520 (Masseter muscular weakness)\n", + " \n", + " \n", + " Reduced strength of the masseter muscle, whose primary function is to elevate the mandible and thereby raise the mandible towards the maxilla, closing the jaw.\n", + " definition of HP:0032520 (Masseter muscular weakness)\n", + " \n", + " \n", + " Broad ulna\n", + " definition of HP:0003993 (Broad ulna)\n", + " \n", + " \n", + " Increased width of the ulna.\n", + " definition of HP:0003993 (Broad ulna)\n", + " \n", + " \n", + " Single lineage myelodysplasia\n", + " definition of HP:0012150 (Single lineage myelodysplasia)\n", + " \n", + " \n", + " Abnormality/dysplasia of a single myeloid cell (erythroid, granulocytic, or megakaryocytic).\n", + " definition of HP:0012150 (Single lineage myelodysplasia)\n", + " \n", + " \n", + " Abnormal circulating biopterin concentration\n", + " definition of HP:0040210 (Abnormal circulating biopterin concentration)\n", + " \n", + " \n", + " A deviation from the normal concentration of biopterin in the blood circulation.\n", + " definition of HP:0040210 (Abnormal circulating biopterin concentration)\n", + " \n", + " \n", + " Vaginal birth after Caesarian\n", + " definition of HP:0030365 (Vaginal birth after Caesarian)\n", + " \n", + " \n", + " Vaginal birth after Caesarian (VBAC) refers to the situation where the mother has had a previous Cesarean delivery but has now delivered vaginally.\n", + " definition of HP:0030365 (Vaginal birth after Caesarian)\n", + " \n", + " \n", + " Floating gallbladder\n", + " definition of HP:0020227 (Floating gallbladder)\n", + " \n", + " \n", + " An abnormal configuration in which the gallbladder is pedunculated, hanging free of the liver, and attached only by the cystic mesentery,\n", + " definition of HP:0020227 (Floating gallbladder)\n", + " \n", + " \n", + " Thyrotoxicosis from ectopic thyroid tissue\n", + " definition of HP:0011783 (Thyrotoxicosis from ectopic thyroid tissue)\n", + " \n", + " \n", + " Cochlear nerve hypoplasia\n", + " definition of HP:0034585 (Cochlear nerve hypoplasia)\n", + " \n", + " \n", + " A developmental defect characterized by underdevelopment of the cochlear nerve.\n", + " definition of HP:0034585 (Cochlear nerve hypoplasia)\n", + " \n", + " \n", + " Elevated serum anion gap\n", + " definition of HP:0031962 (Elevated serum anion gap)\n", + " \n", + " \n", + " An abnormally high value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration).\n", + " definition of HP:0031962 (Elevated serum anion gap)\n", + " \n", + " \n", + " Consecutive esotropia\n", + " definition of HP:0031767 (Consecutive esotropia)\n", + " \n", + " \n", + " Esotropia in a patient who has previously had exotropia or exophoria; may be constant or intermittent and usually follows surgical overcorrection.\n", + " definition of HP:0031767 (Consecutive esotropia)\n", + " \n", + " \n", + " Pronoun reversal\n", + " definition of HP:4000073 (Pronoun reversal)\n", + " \n", + " \n", + " Atypical language features characterized by first vs. second or third person pronoun errors such as using 'you' or 'he/she' in place of 'I'.\n", + " definition of HP:4000073 (Pronoun reversal)\n", + " \n", + " \n", + " Bitemporal forceps marks\n", + " definition of HP:0011336 (Bitemporal forceps marks)\n", + " \n", + " \n", + " Bilateral temporal scarlike defects, which are said to resemble forceps marks.\n", + " definition of HP:0011336 (Bitemporal forceps marks)\n", + " \n", + " \n", + " #Bitemporal aplasia cutis congenita #Congenital ectodermal dysplasia of the face #Congenital, bilateral, scarlike facial lesions\n", + " definition of HP:0011336 (Bitemporal forceps marks)\n", + " \n", + " \n", + " Decreased attenuation pattern on pulmonary HRCT\n", + " definition of HP:0025396 (Decreased attenuation pattern on pulmonary HRCT)\n", + " \n", + " \n", + " Areas of low density corresponding to parenchymal destruction and reduced perfusion, and attenuation of the pulmonary vasculature, as visualized on pulmonary high-resolution computed tomography.\n", + " definition of HP:0025396 (Decreased attenuation pattern on pulmonary HRCT)\n", + " \n", + " \n", + " #Black lung pattern on pulmonary HRCT\n", + " definition of HP:0025396 (Decreased attenuation pattern on pulmonary HRCT)\n", + " \n", + " \n", + " Morphea\n", + " definition of HP:0012344 (Morphea)\n", + " \n", + " \n", + " Isolated patches of hardened skin (scleroderma).\n", + " definition of HP:0012344 (Morphea)\n", + " \n", + " \n", + " Short hard palate\n", + " definition of HP:0010290 (Short hard palate)\n", + " \n", + " \n", + " Distance between the labial point of the incisive papilla to the midline junction of the hard and soft palate more than 2 SD below the mean (objective) or apparently decreased length of the hard palate (subjective).\n", + " definition of HP:0010290 (Short hard palate)\n", + " \n", + " \n", + " #Decreased length of hard palate\n", + " definition of HP:0010290 (Short hard palate)\n", + " \n", + " \n", + " Osteolytic defects of the distal phalanx of the 3rd finger\n", + " definition of HP:0009424 (Osteolytic defects of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Dissolution or degeneration of bone tissue of the distal phalanx of the 3rd finger.\n", + " definition of HP:0009424 (Osteolytic defects of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Lytic defect of terminal phalanx of middle finger\n", + " definition of HP:0009424 (Osteolytic defects of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Hypersegmentation of neutrophil nuclei\n", + " definition of HP:0004821 (Hypersegmentation of neutrophil nuclei)\n", + " \n", + " \n", + " An excessive division of the lobes of the nucleus of a neutrophil.\n", + " definition of HP:0004821 (Hypersegmentation of neutrophil nuclei)\n", + " \n", + " \n", + " #Hypermature neutrophils #Hypersegmentation of neutrophil nuclei in peripheral blood\n", + " definition of HP:0004821 (Hypersegmentation of neutrophil nuclei)\n", + " \n", + " \n", + " Senile plaques\n", + " definition of HP:0100256 (Senile plaques)\n", + " \n", + " \n", + " Senile plaques are extracellular deposits of amyloid in the gray matter of the brain.\n", + " definition of HP:0100256 (Senile plaques)\n", + " \n", + " \n", + " #Braindruse #Neuritic plaques #Senile druse\n", + " definition of HP:0100256 (Senile plaques)\n", + " \n", + " \n", + " Abnormal glial cell morphology\n", + " definition of HP:0100705 (Abnormal glial cell morphology)\n", + " \n", + " \n", + " An abnormality of the glia cell.\n", + " definition of HP:0100705 (Abnormal glial cell morphology)\n", + " \n", + " \n", + " #Abnormality of the glial cells\n", + " definition of HP:0100705 (Abnormal glial cell morphology)\n", + " \n", + " \n", + " Absent hallux\n", + " definition of HP:0012386 (Absent hallux)\n", + " \n", + " \n", + " Aplasia of the hallux, that is, a development defect such that the big toe does not develop.\n", + " definition of HP:0012386 (Absent hallux)\n", + " \n", + " \n", + " #Absent big toe #Agenesis of the halluces #Aplasia of the hallux #Missing big toe\n", + " definition of HP:0012386 (Absent hallux)\n", + " \n", + " \n", + " Perifoveal hypoautofluorescence\n", + " definition of HP:0034272 (Perifoveal hypoautofluorescence)\n", + " \n", + " \n", + " Decreased amount of autofluorescence (emission of fluorescent light from ocular structures in the absence of sodium fluorescein) in the retina in the region surrounding the fovea.\n", + " definition of HP:0034272 (Perifoveal hypoautofluorescence)\n", + " \n", + " \n", + " Abnormal eye physiology\n", + " definition of HP:0012373 (Abnormal eye physiology)\n", + " \n", + " \n", + " A functional anomaly of the eye.\n", + " definition of HP:0012373 (Abnormal eye physiology)\n", + " \n", + " \n", + " #Abnormal eye physiology\n", + " definition of HP:0012373 (Abnormal eye physiology)\n", + " \n", + " \n", + " Benign prostatic hyperplasia\n", + " definition of HP:0008711 (Benign prostatic hyperplasia)\n", + " \n", + " \n", + " The presence of non-malignant hyperplasia of the prostate.\n", + " definition of HP:0008711 (Benign prostatic hyperplasia)\n", + " \n", + " \n", + " #Benign prostatic hypertrophy\n", + " definition of HP:0008711 (Benign prostatic hyperplasia)\n", + " \n", + " \n", + " Joint hypermobility\n", + " definition of HP:0001382 (Joint hypermobility)\n", + " \n", + " \n", + " The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.\n", + " definition of HP:0001382 (Joint hypermobility)\n", + " \n", + " \n", + " #Double-Jointed #Extensible joints #Flexible joints #Hyperextensible joints #Increased joint mobility #Increased mobility of joints #Joint hyperextensibility #Joint hyperflexibility #Joint hyperlaxity #Joint laxity #Joints move beyond expected range of motion #Lax joints #Loose-jointedness\n", + " definition of HP:0001382 (Joint hypermobility)\n", + " \n", + " \n", + " Multiple rib fractures\n", + " definition of HP:0006640 (Multiple rib fractures)\n", + " \n", + " \n", + " More than one fracture of the ribs. Callus formation around multiple rib fractures can produce a row of multiple rounded expansions (beadlike prominences) giving the appearance of beaded ribs. Note that rachitic rosary would have one bead per rib (a swelling at the costochondral junction), while beaded ribs in the context of multiple rib fractures have multiple beads (fractures) along the same rib.\n", + " definition of HP:0006640 (Multiple rib fractures)\n", + " \n", + " \n", + " #Multiple rib fractures\n", + " definition of HP:0006640 (Multiple rib fractures)\n", + " \n", + " \n", + " Bitot spots of the conjunctiva\n", + " definition of HP:0007462 (Bitot spots of the conjunctiva)\n", + " \n", + " \n", + " Keratinization of the bulbar conjunctiva near the limbus (corneoscleral junction), resulting in a raised spot.\n", + " definition of HP:0007462 (Bitot spots of the conjunctiva)\n", + " \n", + " \n", + " Exostoses of the ulna\n", + " definition of HP:0003985 (Exostoses of the ulna)\n", + " \n", + " \n", + " Arachnoid hemangiomatosis\n", + " definition of HP:0012222 (Arachnoid hemangiomatosis)\n", + " \n", + " \n", + " The presence of multiple hemangiomas in the arachnoid.\n", + " definition of HP:0012222 (Arachnoid hemangiomatosis)\n", + " \n", + " \n", + " Hamartoma of the orbital region\n", + " definition of HP:0030670 (Hamartoma of the orbital region)\n", + " \n", + " \n", + " A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the orbital region.\n", + " definition of HP:0030670 (Hamartoma of the orbital region)\n", + " \n", + " \n", + " Burkitt lymphoma\n", + " definition of HP:0030080 (Burkitt lymphoma)\n", + " \n", + " \n", + " A form of undifferentiated malignant lymphoma commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass.\n", + " definition of HP:0030080 (Burkitt lymphoma)\n", + " \n", + " \n", + " Hoffmann sign\n", + " definition of HP:0031993 (Hoffmann sign)\n", + " \n", + " \n", + " A Hoffmann test is performed by flicking the fingernail of the long finger, from dorsal to volar, on each hand while the hand was supported by the examiner's hand. The test was done with the neck in the neutral position and then with the neck maximally forward flexed. Any flexion of the ipsilateral thumb and/or index finger was interpreted as a positive test.\n", + " definition of HP:0031993 (Hoffmann sign)\n", + " \n", + " \n", + " #Hoffmann's sign\n", + " definition of HP:0031993 (Hoffmann sign)\n", + " \n", + " \n", + " Reduced circulating stearoylcarnitine concentration\n", + " definition of HP:6000437 (Reduced circulating stearoylcarnitine concentration)\n", + " \n", + " \n", + " The concentration of stearoylcarnitine (C18:0) in the blood circulation is below the lower limit of normal.\n", + " definition of HP:6000437 (Reduced circulating stearoylcarnitine concentration)\n", + " \n", + " \n", + " Abnormal optic nerve morphology\n", + " definition of HP:0000587 (Abnormal optic nerve morphology)\n", + " \n", + " \n", + " Abnormality of the optic nerve.\n", + " definition of HP:0000587 (Abnormal optic nerve morphology)\n", + " \n", + " \n", + " #Abnormality of the optic nerve #optic nerve abnormalities #Optic nerve issue\n", + " definition of HP:0000587 (Abnormal optic nerve morphology)\n", + " \n", + " \n", + " Parietal meningocele\n", + " definition of HP:0030730 (Parietal meningocele)\n", + " \n", + " \n", + " A herniation of meninges through a congenital bone defect in the skull in the parietal region.\n", + " definition of HP:0030730 (Parietal meningocele)\n", + " \n", + " \n", + " Mucoid extracellular matrix accumulation\n", + " definition of HP:0200146 (Mucoid extracellular matrix accumulation)\n", + " \n", + " \n", + " An increase of medial mucoid extracellular matrix creating translamellar and/or intralamellar expansions including extracellular pools as noted on an H&E stain and/or a stain to highlight extracellular matrix material (Movat's pentachrome, Alcian blue, etc.).\n", + " definition of HP:0200146 (Mucoid extracellular matrix accumulation)\n", + " \n", + " \n", + " #Cystic medial necrosis of the aorta #MEMA\n", + " definition of HP:0200146 (Mucoid extracellular matrix accumulation)\n", + " \n", + " \n", + " Decreased circulating cortisol level\n", + " definition of HP:0008163 (Decreased circulating cortisol level)\n", + " \n", + " \n", + " Abnormally reduced concentration of cortisol in the blood.\n", + " definition of HP:0008163 (Decreased circulating cortisol level)\n", + " \n", + " \n", + " #Decreased cortisol production #Glucocorticoid insufficiency #Hypocortisolemia #Low blood cortisol level #Low to undetectable plasma cortisol #Plasma cortisol low\n", + " definition of HP:0008163 (Decreased circulating cortisol level)\n", + " \n", + " \n", + " Compensated hemolytic anemia\n", + " definition of HP:0004863 (Compensated hemolytic anemia)\n", + " \n", + " \n", + " #Compensated hemolytic anaemia\n", + " definition of HP:0004863 (Compensated hemolytic anemia)\n", + " \n", + " \n", + " Renal artery stenosis\n", + " definition of HP:0001920 (Renal artery stenosis)\n", + " \n", + " \n", + " The presence of stenosis of the renal artery.\n", + " definition of HP:0001920 (Renal artery stenosis)\n", + " \n", + " \n", + " #Narrowing of kidney artery\n", + " definition of HP:0001920 (Renal artery stenosis)\n", + " \n", + " \n", + " Atypical hyperphenylalaninemia\n", + " definition of HP:0004922 (Atypical hyperphenylalaninemia)\n", + " \n", + " \n", + " Absent vestibular function\n", + " definition of HP:0008555 (Absent vestibular function)\n", + " \n", + " \n", + " Complete lack of functioning of the vestibular apparatus.\n", + " definition of HP:0008555 (Absent vestibular function)\n", + " \n", + " \n", + " Abnormal bone marrow cell morphology\n", + " definition of HP:0005561 (Abnormal bone marrow cell morphology)\n", + " \n", + " \n", + " An anomaly of the form or number of cells in the bone marrow.\n", + " definition of HP:0005561 (Abnormal bone marrow cell morphology)\n", + " \n", + " \n", + " #Abnormality of bone marrow cell morphology #Anomaly of the bone marrow cells\n", + " definition of HP:0005561 (Abnormal bone marrow cell morphology)\n", + " \n", + " \n", + " Expiratory crackles\n", + " definition of HP:0031999 (Expiratory crackles)\n", + " \n", + " \n", + " Crackles that occur during expiration.\n", + " definition of HP:0031999 (Expiratory crackles)\n", + " \n", + " \n", + " Defective DNA repair after ultraviolet radiation damage\n", + " definition of HP:0003079 (Defective DNA repair after ultraviolet radiation damage)\n", + " \n", + " \n", + " Finger symphalangism\n", + " definition of HP:0009700 (Finger symphalangism)\n", + " \n", + " \n", + " An abnormal union between bones or parts of bones of the fingers. The synonymous term \\"symphalangism of the hand\\" may be translated as fusions of bones of varying digree, that involve at least one phalangeal bone of the hand. If bony fusions are referred to as \\"Symphalangism\\" the fusion occurs in a proximo-distal axis. Fusions of bones of the fingers in a radio-ulnar axis are referred to as \\"bony\\" Syndactyly.\n", + " definition of HP:0009700 (Finger symphalangism)\n", + " \n", + " \n", + " #Fused finger bones #Symphalangism of the hand #Synostosis involving bones of the fingers\n", + " definition of HP:0009700 (Finger symphalangism)\n", + " \n", + " \n", + " Renal hamartoma\n", + " definition of HP:0008696 (Renal hamartoma)\n", + " \n", + " \n", + " A disordered proliferation of mature tissues that are native to the kidneys.\n", + " definition of HP:0008696 (Renal hamartoma)\n", + " \n", + " \n", + " Decreased circulating complement component 1s concentration\n", + " definition of HP:6000242 (Decreased circulating complement component 1s concentration)\n", + " \n", + " \n", + " The concentration of complement component 1s (C1s) in the blood circulation is below the lower limit of normal.\n", + " definition of HP:6000242 (Decreased circulating complement component 1s concentration)\n", + " \n", + " \n", + " #C1s low in blood\n", + " definition of HP:6000242 (Decreased circulating complement component 1s concentration)\n", + " \n", + " \n", + " Reduced tissue carnitine O-palmitoyltransferase 2 activity\n", + " definition of HP:0012380 (Reduced tissue carnitine O-palmitoyltransferase 2 activity)\n", + " \n", + " \n", + " Reduced carnitine O-palmitoyltransferase (CPT II; EC 2.3.1.21) activity or level, leading to a reduced activity of the reaction: palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine. (CPT II activity can be measured in tissues including fibroblasts, lymphoblasts, and skeletal muscle.\n", + " definition of HP:0012380 (Reduced tissue carnitine O-palmitoyltransferase 2 activity)\n", + " \n", + " \n", + " White cerebellum sign\n", + " definition of HP:0034355 (White cerebellum sign)\n", + " \n", + " \n", + " On computed tomography of the brain,the white (or dense) cerebellum sign is seen when the cerebellum appears dense with respect to the cerebral parenchyma. The increase in attenuation of cerebellum is in fact a relative hyperdensity caused by decreased attenutation of the brain. It represents anoxic-ischemic cerebral injury, and has a very poor prognosis.\n", + " definition of HP:0034355 (White cerebellum sign)\n", + " \n", + " \n", + " Disturbance of facial expression\n", + " definition of HP:0005324 (Disturbance of facial expression)\n", + " \n", + " \n", + " An abnormality of the gestures or movements executed with the facial muscles with which emotions such as fear, joy, sadness, surprise, and disgust can be expressed.\n", + " definition of HP:0005324 (Disturbance of facial expression)\n", + " \n", + " \n", + " #Disturbance of facial expression\n", + " definition of HP:0005324 (Disturbance of facial expression)\n", + " \n", + " \n", + " Elevated urinary creatine/creatinine ratio\n", + " definition of HP:6000127 (Elevated urinary creatine/creatinine ratio)\n", + " \n", + " \n", + " The ratio of creatine to creatinine concentration in the urine is above the upper limit of normal.\n", + " definition of HP:6000127 (Elevated urinary creatine/creatinine ratio)\n", + " \n", + " \n", + " #Increased urine Cr/Crn ratio\n", + " definition of HP:6000127 (Elevated urinary creatine/creatinine ratio)\n", + " \n", + " \n", + " Beta-cell dysfunction\n", + " definition of HP:0006279 (Beta-cell dysfunction)\n", + " \n", + " \n", + " Shield chest\n", + " definition of HP:0000914 (Shield chest)\n", + " \n", + " \n", + " A broad chest.\n", + " definition of HP:0000914 (Shield chest)\n", + " \n", + " \n", + " #Shield chest\n", + " definition of HP:0000914 (Shield chest)\n", + " \n", + " \n", + " Dysplastic erythropoesis\n", + " definition of HP:0012134 (Dysplastic erythropoesis)\n", + " \n", + " \n", + " Coated aorta\n", + " definition of HP:0025494 (Coated aorta)\n", + " \n", + " \n", + " Regular circumferential periaortic fibrosis involving the whole aorta and leading to a coated aorta appearance on computed tomography scans\n", + " definition of HP:0025494 (Coated aorta)\n", + " \n", + " \n", + " Abnormal corneal endothelium morphology\n", + " definition of HP:0011488 (Abnormal corneal endothelium morphology)\n", + " \n", + " \n", + " Abnormality of the corneal endothelium, that is, the single layer of cells on the inner surface of the cornea.\n", + " definition of HP:0011488 (Abnormal corneal endothelium morphology)\n", + " \n", + " \n", + " #Abnormality of corneal endothelium\n", + " definition of HP:0011488 (Abnormal corneal endothelium morphology)\n", + " \n", + " \n", + " Type III atherosclerotic lesion\n", + " definition of HP:0031681 (Type III atherosclerotic lesion)\n", + " \n", + " \n", + " Type III (intermediate) atherosclerotic lesions are the morphological and chemical bridge between type II and advanced lesions. Type III lesions appear in some adaptive intimal thickenings (progression-prone locations) in young adults and are characterized by pools of extracellular lipid in addition to all the components of type II lesions.\n", + " definition of HP:0031681 (Type III atherosclerotic lesion)\n", + " \n", + " \n", + " Genital neoplasm\n", + " definition of HP:0010787 (Genital neoplasm)\n", + " \n", + " \n", + " A tumor (abnormal growth of tissue) of the genital system.\n", + " definition of HP:0010787 (Genital neoplasm)\n", + " \n", + " \n", + " #Genital tumor #Genital tumour\n", + " definition of HP:0010787 (Genital neoplasm)\n", + " \n", + " \n", + " Gastrointestinal stroma tumor\n", + " definition of HP:0100723 (Gastrointestinal stroma tumor)\n", + " \n", + " \n", + " #Gastrointestinal stroma tumour #Gastrointestinal stromal tumor #Gastrointestinal stromal tumour #GI stroma tumor #GI stroma tumour #GIST\n", + " definition of HP:0100723 (Gastrointestinal stroma tumor)\n", + " \n", + " \n", + " Decreased patellar reflex\n", + " definition of HP:0011808 (Decreased patellar reflex)\n", + " \n", + " \n", + " Decreased intensity of the patellar reflex (also known as the knee jerk reflex).\n", + " definition of HP:0011808 (Decreased patellar reflex)\n", + " \n", + " \n", + " #Decreased knee jerk reflex #Decreased patellar reflexes\n", + " definition of HP:0011808 (Decreased patellar reflex)\n", + " \n", + " \n", + " Infracardiac total anomalous pulmonary venous connection\n", + " definition of HP:0011721 (Infracardiac total anomalous pulmonary venous connection)\n", + " \n", + " \n", + " Type 3 total anomalous pulmonary venous connection.\n", + " definition of HP:0011721 (Infracardiac total anomalous pulmonary venous connection)\n", + " \n", + " \n", + " #Infracardiac total anomalous pulmonary venous connexion #Type 3 total anomalous pulmonary venous connection\n", + " definition of HP:0011721 (Infracardiac total anomalous pulmonary venous connection)\n", + " \n", + " \n", + " Broad femoral neck\n", + " definition of HP:0006429 (Broad femoral neck)\n", + " \n", + " \n", + " An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).\n", + " definition of HP:0006429 (Broad femoral neck)\n", + " \n", + " \n", + " #Broadening of femoral neck #Wide femoral neck #Wide neck of thigh bone #Widened femoral necks\n", + " definition of HP:0006429 (Broad femoral neck)\n", + " \n", + " \n", + " Contracture of the proximal interphalangeal joint of the 3rd toe\n", + " definition of HP:0100349 (Contracture of the proximal interphalangeal joint of the 3rd toe)\n", + " \n", + " \n", + " The proximal interphalangeal joint of the 3rd toe cannot be straightened actively or passively.\n", + " definition of HP:0100349 (Contracture of the proximal interphalangeal joint of the 3rd toe)\n", + " \n", + " \n", + " #Camptodactyly of the 3rd toe\n", + " definition of HP:0100349 (Contracture of the proximal interphalangeal joint of the 3rd toe)\n", + " \n", + " \n", + " Wrist swelling\n", + " definition of HP:0001225 (Wrist swelling)\n", + " \n", + " \n", + " #Wrist swelling\n", + " definition of HP:0001225 (Wrist swelling)\n", + " \n", + " \n", + " Curvilinear pericallosal lipoma\n", + " definition of HP:0034013 (Curvilinear pericallosal lipoma)\n", + " \n", + " \n", + " A type of pericallosal lipoma that is thin and curves around the posterior end of the splenium of the corpus callosum.\n", + " definition of HP:0034013 (Curvilinear pericallosal lipoma)\n", + " \n", + " \n", + " Bence Jones Proteinuria\n", + " definition of HP:0030156 (Bence Jones Proteinuria)\n", + " \n", + " \n", + " The presence of free monoclonal immunoglobulin light chains in the urine.\n", + " definition of HP:0030156 (Bence Jones Proteinuria)\n", + " \n", + " \n", + " Iodine contrast allergy\n", + " definition of HP:0012394 (Iodine contrast allergy)\n", + " \n", + " \n", + " Allergy to iodine contrast media used in radiological studies.\n", + " definition of HP:0012394 (Iodine contrast allergy)\n", + " \n", + " \n", + " Glomus jugular tumor\n", + " definition of HP:0003001 (Glomus jugular tumor)\n", + " \n", + " \n", + " #Glomus jugular tumour #Glomus jugulare tumor #Glomus jugulare tumors #Glomus jugulare tumour #Glomus jugulare tumours\n", + " definition of HP:0003001 (Glomus jugular tumor)\n", + " \n", + " \n", + " Extraadrenal pheochromocytoma\n", + " definition of HP:0006737 (Extraadrenal pheochromocytoma)\n", + " \n", + " \n", + " Pheochromocytoma not originating from the adrenal medulla but from another source such as from chromaffin cells in or about sympathetic ganglia.\n", + " definition of HP:0006737 (Extraadrenal pheochromocytoma)\n", + " \n", + " \n", + " #Pheochromocytoma, extraadrenal\n", + " definition of HP:0006737 (Extraadrenal pheochromocytoma)\n", + " \n", + " \n", + " Polyneuropathy\n", + " definition of HP:0001271 (Polyneuropathy)\n", + " \n", + " \n", + " A generalized disorder of peripheral nerves.\n", + " definition of HP:0001271 (Polyneuropathy)\n", + " \n", + " \n", + " #Peripheral nerve disease\n", + " definition of HP:0001271 (Polyneuropathy)\n", + " \n", + " \n", + " Single transverse palmar crease\n", + " definition of HP:0000954 (Single transverse palmar crease)\n", + " \n", + " \n", + " The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.\n", + " definition of HP:0000954 (Single transverse palmar crease)\n", + " \n", + " \n", + " #Simian crease #Simian creases #Simian line #Single flexion crease #Single palmar crease #Single palmar creases #Single transverse palmar creases #Transverse palmar crease\n", + " definition of HP:0000954 (Single transverse palmar crease)\n", + " \n", + " \n", + " Myocardial sarcomeric disarray\n", + " definition of HP:0031333 (Myocardial sarcomeric disarray)\n", + " \n", + " \n", + " A disruption of the structure of the sarcomeres of cardiomyocytes. The sarcomere is the repeating unit between two Z lines comprised largely of myosin and actin that mediates contractility, and normally sarcomeres are aligned with the long axis of cells, with the Z bands being in register throughout the length of the cardiac myocytes.\n", + " definition of HP:0031333 (Myocardial sarcomeric disarray)\n", + " \n", + " \n", + " #Cardiac biopsy: myocyte disarray #Cardiomyocyte disarray #Myocardial sarcomere disarray\n", + " definition of HP:0031333 (Myocardial sarcomeric disarray)\n", + " \n", + " \n", + " Single ventricle\n", + " definition of HP:0001750 (Single ventricle)\n", + " \n", + " \n", + " The presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle.\n", + " definition of HP:0001750 (Single ventricle)\n", + " \n", + " \n", + " #Common ventricle\n", + " definition of HP:0001750 (Single ventricle)\n", + " \n", + " \n", + " Multiple myeloma\n", + " definition of HP:0006775 (Multiple myeloma)\n", + " \n", + " \n", + " A malignant plasma cell tumor growing within soft tissue or within the skeleton.\n", + " definition of HP:0006775 (Multiple myeloma)\n", + " \n", + " \n", + " Aquagenic urticaria\n", + " definition of HP:0410136 (Aquagenic urticaria)\n", + " \n", + " \n", + " A form of physical urticaria, in which contact with water, regardless of its temperature and source, evokes pruritic follicular wheals on the skin.\n", + " definition of HP:0410136 (Aquagenic urticaria)\n", + " \n", + " \n", + " Superficial dermal perivascular inflammatory infiltrate\n", + " definition of HP:0031190 (Superficial dermal perivascular inflammatory infiltrate)\n", + " \n", + " \n", + " Numerous lymphocytes surrounding blood vessels in the superficial part of the dermis.\n", + " definition of HP:0031190 (Superficial dermal perivascular inflammatory infiltrate)\n", + " \n", + " \n", + " #Superficial perivascular inflammatory infiltrate\n", + " definition of HP:0031190 (Superficial dermal perivascular inflammatory infiltrate)\n", + " \n", + " \n", + " Focal cortical dysplasia type IIb\n", + " definition of HP:0032053 (Focal cortical dysplasia type IIb)\n", + " \n", + " \n", + " A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons (significantly enlarged with accumulation of neurofilament proteins) and balloon cells.\n", + " definition of HP:0032053 (Focal cortical dysplasia type IIb)\n", + " \n", + " \n", + " Pituitary gonadotropic cell adenoma\n", + " definition of HP:0011759 (Pituitary gonadotropic cell adenoma)\n", + " \n", + " \n", + " A type of pituitary adenoma that produces gonadotropins.\n", + " definition of HP:0011759 (Pituitary gonadotropic cell adenoma)\n", + " \n", + " \n", + " #Pituitary gonadotropinoma\n", + " definition of HP:0011759 (Pituitary gonadotropic cell adenoma)\n", + " \n", + " \n", + " Optic nerve tram-track sign\n", + " definition of HP:0032270 (Optic nerve tram-track sign)\n", + " \n", + " \n", + " A tram-track sign is composed of two enhancing areas of tumor separated from each other by the negative defect of the optic nerve. It is seen on contrast-enhanced CT scan and MRI images, in optic nerve sheath meningioma. The sign helps distinguish between optic nerve sheath meningioma and optic glioma. Optic glioma arises from glial cells within the optic nerve and there is no clear separation between the nerve and the tumor; hence the tram-track sign is not seen in optic gliomas. Calcification may be seen in optic nerve sheath meningiomas in 20-50% of cases and hence the tram-track sign may be seen on nonenhanced CT scan images as a linear calcification around the nerve, but this is less common.\n", + " definition of HP:0032270 (Optic nerve tram-track sign)\n", + " \n", + " \n", + " Multicentric ossification of proximal femoral epiphyses\n", + " definition of HP:0006450 (Multicentric ossification of proximal femoral epiphyses)\n", + " \n", + " \n", + " Malaligned philtral ridges\n", + " definition of HP:0011827 (Malaligned philtral ridges)\n", + " \n", + " \n", + " Absence of the usual parallel position of philtral ridges.\n", + " definition of HP:0011827 (Malaligned philtral ridges)\n", + " \n", + " \n", + " #Asymmetric philtral columns #Asymmetric philtral ridges #Malaligned philtral columns #Philtral Ridges, Malaligned\n", + " definition of HP:0011827 (Malaligned philtral ridges)\n", + " \n", + " \n", + " Limb-girdle muscle weakness\n", + " definition of HP:0003325 (Limb-girdle muscle weakness)\n", + " \n", + " \n", + " Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis.\n", + " definition of HP:0003325 (Limb-girdle muscle weakness)\n", + " \n", + " \n", + " #Limb girdle weakness #Muscle weakness, limb-girdle #Muscular weakness, limb-girdle\n", + " definition of HP:0003325 (Limb-girdle muscle weakness)\n", + " \n", + " \n", + " Trismus\n", + " definition of HP:0000211 (Trismus)\n", + " \n", + " \n", + " Limitation in the ability to open the mouth.\n", + " definition of HP:0000211 (Trismus)\n", + " \n", + " \n", + " #Lockjaw #Pain of muscles of mastication\n", + " definition of HP:0000211 (Trismus)\n", + " \n", + " \n", + " Synostosis involving the 3rd metacarpal\n", + " definition of HP:0009706 (Synostosis involving the 3rd metacarpal)\n", + " \n", + " \n", + " #Fusion involving the 3rd long bone of hand\n", + " definition of HP:0009706 (Synostosis involving the 3rd metacarpal)\n", + " \n", + " \n", + " Urethral fistula\n", + " definition of HP:0010480 (Urethral fistula)\n", + " \n", + " \n", + " The presence of an abnormal connection between the urethra and another organ or the skin.\n", + " definition of HP:0010480 (Urethral fistula)\n", + " \n", + " \n", + " Elevated urinary S-sulfocysteine level\n", + " definition of HP:0034744 (Elevated urinary S-sulfocysteine level)\n", + " \n", + " \n", + " Level of S-sulfocysteine high in urine above the upper limit of normal.\n", + " definition of HP:0034744 (Elevated urinary S-sulfocysteine level)\n", + " \n", + " \n", + " #S-sulfocysteine high in urine\n", + " definition of HP:0034744 (Elevated urinary S-sulfocysteine level)\n", + " \n", + " \n", + " Early young adult onset\n", + " definition of HP:0025708 (Early young adult onset)\n", + " \n", + " \n", + " Onset of disease at an age of greater than or equal to 16 to under 19 years.\n", + " definition of HP:0025708 (Early young adult onset)\n", + " \n", + " \n", + " Superiorly displaced ears\n", + " definition of HP:0008541 (Superiorly displaced ears)\n", + " \n", + " \n", + " Tessier number 30 facial cleft\n", + " definition of HP:0031587 (Tessier number 30 facial cleft)\n", + " \n", + " \n", + " A lower midline facial cleft, also known as the median mandibular cleft. It is a rare anomaly, which may be limited to a defect in the soft tissue of the lower lip. However, in the more severe form, it may extend into the bony mandibular symphysis.\n", + " definition of HP:0031587 (Tessier number 30 facial cleft)\n", + " \n", + " \n", + " Malignant mesothelioma\n", + " definition of HP:0100001 (Malignant mesothelioma)\n", + " \n", + " \n", + " Malignant mesothelioma is a form of cancer that originates from the cells of the mesothelium, a thin tissue layer surrounding the body's internal organs. Malignant mesothelioma is almost exclusively caused by asbestos exposure, pleural mesothelioma being the most common form, affecting the lining of the lungs called the pleura. Other forms such as perioneal-, percardial- or testicular- mesothelioma are much rarer.\n", + " definition of HP:0100001 (Malignant mesothelioma)\n", + " \n", + " \n", + " Venous insufficiency\n", + " definition of HP:0005293 (Venous insufficiency)\n", + " \n", + " \n", + " #Poorly functioning veins\n", + " definition of HP:0005293 (Venous insufficiency)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the musculature of the thigh\n", + " definition of HP:0009786 (Aplasia/Hypoplasia of the musculature of the thigh)\n", + " \n", + " \n", + " Absence or underdevelopment involving the musculature of the thigh.\n", + " definition of HP:0009786 (Aplasia/Hypoplasia of the musculature of the thigh)\n", + " \n", + " \n", + " #Absent/small thigh muscles #Absent/underdeveloped thigh muscles\n", + " definition of HP:0009786 (Aplasia/Hypoplasia of the musculature of the thigh)\n", + " \n", + " \n", + " Broad philtrum\n", + " definition of HP:0000289 (Broad philtrum)\n", + " \n", + " \n", + " Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations above the mean, or alternatively, an apparently increased distance between the ridges of the philtrum.\n", + " definition of HP:0000289 (Broad philtrum)\n", + " \n", + " \n", + " #Increased breadth of philtrum #Increased horizontal dimension of philtrum #Increased transverse dimension of philtrum #Increased width of philtrum #Wide philtrum\n", + " definition of HP:0000289 (Broad philtrum)\n", + " \n", + " \n", + " Perineal fistula\n", + " definition of HP:0004871 (Perineal fistula)\n", + " \n", + " \n", + " The presence of a fistula between the bowel and the perineum.\n", + " definition of HP:0004871 (Perineal fistula)\n", + " \n", + " \n", + " Elevated circulating 17-hydroxyprogesterone concentration\n", + " definition of HP:0031213 (Elevated circulating 17-hydroxyprogesterone concentration)\n", + " \n", + " \n", + " An increased level of 17-hydroxyprogesterone in the blood. 17-hydroxyprogesterone is an intermediate steroid in the adrenal biosynthetic pathway from cholesterol to cortisol and is the substrate for steroid 21-hydroxylase.\n", + " definition of HP:0031213 (Elevated circulating 17-hydroxyprogesterone concentration)\n", + " \n", + " \n", + " #Elevated circulating 17-hydroxyprogesterone #Elevated circulating 17-OHP\n", + " definition of HP:0031213 (Elevated circulating 17-hydroxyprogesterone concentration)\n", + " \n", + " \n", + " Increased anti-feather IgE antibody level\n", + " definition of HP:0410226 (Increased anti-feather IgE antibody level)\n", + " \n", + " \n", + " Increased level of IgE antibody against feathers, which could be indicative of an allergy against feathers themselves, or mite allergens present in feathers.\n", + " definition of HP:0410226 (Increased anti-feather IgE antibody level)\n", + " \n", + " \n", + " Venous stenosis\n", + " definition of HP:0025491 (Venous stenosis)\n", + " \n", + " \n", + " Narrowing of a vein due to intimal hyperplasia and fibrosis.\n", + " definition of HP:0025491 (Venous stenosis)\n", + " \n", + " \n", + " Hydrocephalus\n", + " definition of HP:0000238 (Hydrocephalus)\n", + " \n", + " \n", + " Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.\n", + " definition of HP:0000238 (Hydrocephalus)\n", + " \n", + " \n", + " #Hydrocephaly #Nonsyndromal hydrocephalus #Too much cerebrospinal fluid in the brain\n", + " definition of HP:0000238 (Hydrocephalus)\n", + " \n", + " \n", + " Cerebral hamartoma\n", + " definition of HP:0009731 (Cerebral hamartoma)\n", + " \n", + " \n", + " The presence of a hamartoma of the cerebrum.\n", + " definition of HP:0009731 (Cerebral hamartoma)\n", + " \n", + " \n", + " #Cerebral hamartomata\n", + " definition of HP:0009731 (Cerebral hamartoma)\n", + " \n", + " \n", + " Retinal microaneurysm\n", + " definition of HP:0032416 (Retinal microaneurysm)\n", + " \n", + " \n", + " A localized dilation of microvasculature formed due to disruption of the internal elastic lamina of a retinal capillary blood vessel. The lesions present as small circular, red dots having distinct margins and are no larger than a blood vessel width at the disk margin. This expansion disturbs the normal flow pattern, changing shear force and pressure along the vessel. Shear force plays a key role in promoting the differentiation and proliferation of endothelial cells.\n", + " definition of HP:0032416 (Retinal microaneurysm)\n", + " \n", + " \n", + " Increased factor VIII activity\n", + " definition of HP:0030977 (Increased factor VIII activity)\n", + " \n", + " \n", + " Increased activity of the coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.\n", + " definition of HP:0030977 (Increased factor VIII activity)\n", + " \n", + " \n", + " #Elevated factor VIII level\n", + " definition of HP:0030977 (Increased factor VIII activity)\n", + " \n", + " \n", + " Brainstem lucency\n", + " definition of HP:0025741 (Brainstem lucency)\n", + " \n", + " \n", + " A lesion located in the brainstem that appears areas less dense on magnetic resonance imaging or lighter on computed tomography.\n", + " definition of HP:0025741 (Brainstem lucency)\n", + " \n", + " \n", + " #Brainstem lucencies\n", + " definition of HP:0025741 (Brainstem lucency)\n", + " \n", + " \n", + " Cortical peritubular capillary intraluminal thrombi\n", + " definition of HP:0033873 (Cortical peritubular capillary intraluminal thrombi)\n", + " \n", + " \n", + " Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the peritubular capillaries located in the cortex of the kidney.\n", + " definition of HP:0033873 (Cortical peritubular capillary intraluminal thrombi)\n", + " \n", + " \n", + " #Intraluminal thrombi within cortical peritubular capillaries\n", + " definition of HP:0033873 (Cortical peritubular capillary intraluminal thrombi)\n", + " \n", + " \n", + " Curved proximal phalanx of the thumb\n", + " definition of HP:0009632 (Curved proximal phalanx of the thumb)\n", + " \n", + " \n", + " A deviation from the normal straight shape of the proximal phalanx of the thumb.\n", + " definition of HP:0009632 (Curved proximal phalanx of the thumb)\n", + " \n", + " \n", + " #Curved innermost thumb bone\n", + " definition of HP:0009632 (Curved proximal phalanx of the thumb)\n", + " \n", + " \n", + " Anti-Iglon5 antibody\n", + " definition of HP:5000017 (Anti-Iglon5 antibody)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against immunoglobulin-like cell adhesion molecule 5 (IgLON5).\n", + " definition of HP:5000017 (Anti-Iglon5 antibody)\n", + " \n", + " \n", + " #Anti-immunoglobulin-like cell adhesion molecule 5 antibody\n", + " definition of HP:5000017 (Anti-Iglon5 antibody)\n", + " \n", + " \n", + " Cavernous hemangioma of the face\n", + " definition of HP:0007486 (Cavernous hemangioma of the face)\n", + " \n", + " \n", + " Perifoveal ring of hyperautofluorescence surrounded by normal autofluorescence\n", + " definition of HP:0030633 (Perifoveal ring of hyperautofluorescence surrounded by normal autofluorescence)\n", + " \n", + " \n", + " Difficulty descending stairs\n", + " definition of HP:0033235 (Difficulty descending stairs)\n", + " \n", + " \n", + " Reduced ability to desscend stairs.\n", + " definition of HP:0033235 (Difficulty descending stairs)\n", + " \n", + " \n", + " #Difficulty walking down stairs\n", + " definition of HP:0033235 (Difficulty descending stairs)\n", + " \n", + " \n", + " Neoplasm of the lung\n", + " definition of HP:0100526 (Neoplasm of the lung)\n", + " \n", + " \n", + " Tumor of the lung.\n", + " definition of HP:0100526 (Neoplasm of the lung)\n", + " \n", + " \n", + " #Lung tumor #Lung tumour\n", + " definition of HP:0100526 (Neoplasm of the lung)\n", + " \n", + " \n", + " Fetal lung hyperechogenicity\n", + " definition of HP:6000252 (Fetal lung hyperechogenicity)\n", + " \n", + " \n", + " Increased response (echo) of lung tissue of a fetus observed on prenatal sonography. Increased echo response is conventially displayed as a higher degree of brightness.\n", + " definition of HP:6000252 (Fetal lung hyperechogenicity)\n", + " \n", + " \n", + " Bilateral vocal cord paresis\n", + " definition of HP:0012822 (Bilateral vocal cord paresis)\n", + " \n", + " \n", + " Decreased strength of the vocal fold on both sides.\n", + " definition of HP:0012822 (Bilateral vocal cord paresis)\n", + " \n", + " \n", + " Reduced circulating aromatic L-amino acid decarboxylase activity\n", + " definition of HP:6000037 (Reduced circulating aromatic L-amino acid decarboxylase activity)\n", + " \n", + " \n", + " The activity of aromatic L-amino acid decarboxylase (also known as DOPA decarboxylase, tryptophan decarboxylase, and 5-hydroxytryptophan decarboxylase) in the blood circulation is below the lower limit of normal.\n", + " definition of HP:6000037 (Reduced circulating aromatic L-amino acid decarboxylase activity)\n", + " \n", + " \n", + " #Reduced circulating 5-hydroxytryptophan decarboxylase activity #Reduced circulating DOPA decarboxylase, activity\n", + " definition of HP:6000037 (Reduced circulating aromatic L-amino acid decarboxylase activity)\n", + " \n", + " \n", + " Metaphyseal dysplasia\n", + " definition of HP:0100255 (Metaphyseal dysplasia)\n", + " \n", + " \n", + " The presence of dysplastic regions in metaphyseal regions.\n", + " definition of HP:0100255 (Metaphyseal dysplasia)\n", + " \n", + " \n", + " Abnormal unaided visual acuity test\n", + " definition of HP:0030533 (Abnormal unaided visual acuity test)\n", + " \n", + " \n", + " Abnormality of radial diaphysis\n", + " definition of HP:0004027 (Abnormality of radial diaphysis)\n", + " \n", + " \n", + " An anomaly of the radial diaphysis.\n", + " definition of HP:0004027 (Abnormality of radial diaphysis)\n", + " \n", + " \n", + " Abnormal metaphyseal trabeculation\n", + " definition of HP:0005089 (Abnormal metaphyseal trabeculation)\n", + " \n", + " \n", + " An abnormality of the pattern of trabecula (small interconnecting rods of bone) in a metaphyseal region of bone.\n", + " definition of HP:0005089 (Abnormal metaphyseal trabeculation)\n", + " \n", + " \n", + " Prominent coccyx\n", + " definition of HP:0040016 (Prominent coccyx)\n", + " \n", + " \n", + " #Prominent tailbone\n", + " definition of HP:0040016 (Prominent coccyx)\n", + " \n", + " \n", + " Cerebral artery stenosis\n", + " definition of HP:0012492 (Cerebral artery stenosis)\n", + " \n", + " \n", + " Narrowing or constriction of the inner surface (lumen) of a cerebral artery.\n", + " definition of HP:0012492 (Cerebral artery stenosis)\n", + " \n", + " \n", + " #Narrowing of a cerebral artery\n", + " definition of HP:0012492 (Cerebral artery stenosis)\n", + " \n", + " \n", + " Focal aware hemifacial clonic seizure\n", + " definition of HP:0032854 (Focal aware hemifacial clonic seizure)\n", + " \n", + " \n", + " Focal seizure characterized at onset by clonic movements affecting half of the face with retained awareness throughout.\n", + " definition of HP:0032854 (Focal aware hemifacial clonic seizure)\n", + " \n", + " \n", + " Abnormal glomerular capillary morphology\n", + " definition of HP:0025006 (Abnormal glomerular capillary morphology)\n", + " \n", + " \n", + " A structural anomaly of the capillary blood vessels in the renal glomerulus.\n", + " definition of HP:0025006 (Abnormal glomerular capillary morphology)\n", + " \n", + " \n", + " Decreased urinary 1-methylhistidine\n", + " definition of HP:0410314 (Decreased urinary 1-methylhistidine)\n", + " \n", + " \n", + " Decreased concentration of 1-methylhistidine in the urine.\n", + " definition of HP:0410314 (Decreased urinary 1-methylhistidine)\n", + " \n", + " \n", + " Recurrent protozoan infections\n", + " definition of HP:0005386 (Recurrent protozoan infections)\n", + " \n", + " \n", + " Increased susceptibility to protozoan infections, as manifested by recurrent episodes of protozoan infection.\n", + " definition of HP:0005386 (Recurrent protozoan infections)\n", + " \n", + " \n", + " Decreased mannosylation of N-linked protein glycosylation\n", + " definition of HP:0012356 (Decreased mannosylation of N-linked protein glycosylation)\n", + " \n", + " \n", + " Reduced addition of mannose to N-linked glycans.\n", + " definition of HP:0012356 (Decreased mannosylation of N-linked protein glycosylation)\n", + " \n", + " \n", + " Low-frequency sensorineural hearing impairment\n", + " definition of HP:0008573 (Low-frequency sensorineural hearing impairment)\n", + " \n", + " \n", + " A form of sensorineural hearing impairment that affects primarily the lower frequencies.\n", + " definition of HP:0008573 (Low-frequency sensorineural hearing impairment)\n", + " \n", + " \n", + " #Low-frequency sensorineural hearing loss\n", + " definition of HP:0008573 (Low-frequency sensorineural hearing impairment)\n", + " \n", + " \n", + " Absence of pubertal development\n", + " definition of HP:0008197 (Absence of pubertal development)\n", + " \n", + " \n", + " Giant hypertrophic gastritis\n", + " definition of HP:0005246 (Giant hypertrophic gastritis)\n", + " \n", + " \n", + " A type of gastritis characterized by excessive proliferation of the gastric mucosa and diffuse thickening of the gastric mucosal folds.\n", + " definition of HP:0005246 (Giant hypertrophic gastritis)\n", + " \n", + " \n", + " Pulmonary pseudocavity\n", + " definition of HP:0033648 (Pulmonary pseudocavity)\n", + " \n", + " \n", + " A pseudocavity appears as an oval or round area of low attenuation in lung nodules, masses, or areas of consolidation that represent spared parenchyma, normal or ectatic bronchi, or focal emphysema rather than cavitation. These pseudocavities usually measure less than 1 cm in diameter. They have been described in patients with adenocarcinoma, bronchioloalveolar carcinoma, and benign conditions such as infectious pneumonia.\n", + " definition of HP:0033648 (Pulmonary pseudocavity)\n", + " \n", + " \n", + " Abnormal tissue enzyme concentration or activity\n", + " definition of HP:6000231 (Abnormal tissue enzyme concentration or activity)\n", + " \n", + " \n", + " Concentration of an enyzme in a tissue is above or between the limit of normal. This term is intended to be used for enzymes that can be measured in multiple tissues other than blood.\n", + " definition of HP:6000231 (Abnormal tissue enzyme concentration or activity)\n", + " \n", + " \n", + " #Abnormal tissue enzyme activity\n", + " definition of HP:6000231 (Abnormal tissue enzyme concentration or activity)\n", + " \n", + " \n", + " Hypoplastic L5 vertebral pedicle\n", + " definition of HP:0030279 (Hypoplastic L5 vertebral pedicle)\n", + " \n", + " \n", + " Underdeveloped pedicle of the fifth lumbar vertebra.\n", + " definition of HP:0030279 (Hypoplastic L5 vertebral pedicle)\n", + " \n", + " \n", + " Reduced muscle dystrophin expression\n", + " definition of HP:0030098 (Reduced muscle dystrophin expression)\n", + " \n", + " \n", + " A decreased amount of dystrophin in muscle fiber tissue.\n", + " definition of HP:0030098 (Reduced muscle dystrophin expression)\n", + " \n", + " \n", + " #Reduced dystrophin staining in muscle\n", + " definition of HP:0030098 (Reduced muscle dystrophin expression)\n", + " \n", + " \n", + " Increased CSF tryptophan concentration\n", + " definition of HP:0500222 (Increased CSF tryptophan concentration)\n", + " \n", + " \n", + " Abnormally increased levels of tryptophan in cerebrospinal fluid.\n", + " definition of HP:0500222 (Increased CSF tryptophan concentration)\n", + " \n", + " \n", + " #High tryptophan levels in cerebrospinal fluid\n", + " definition of HP:0500222 (Increased CSF tryptophan concentration)\n", + " \n", + " \n", + " Early inspiratory crackles\n", + " definition of HP:0031997 (Early inspiratory crackles)\n", + " \n", + " \n", + " Crackles that appear at the beginning of inspiration and end before mid-inspiration.\n", + " definition of HP:0031997 (Early inspiratory crackles)\n", + " \n", + " \n", + " Abnormal antitragus morphology\n", + " definition of HP:0009896 (Abnormal antitragus morphology)\n", + " \n", + " \n", + " An abnormality of the antitragus, which is a small tubercle opposite to the tragus of the ear. The antitragus and the tragus are separated by the intertragic notch.\n", + " definition of HP:0009896 (Abnormal antitragus morphology)\n", + " \n", + " \n", + " Increased CSF xylitol concentration\n", + " definition of HP:0410075 (Increased CSF xylitol concentration)\n", + " \n", + " \n", + " The concentration of xylitol in the cerebrospinal fluid is above the upper limit of normal.\n", + " definition of HP:0410075 (Increased CSF xylitol concentration)\n", + " \n", + " \n", + " #Increased level of xylitol in cerebrospinal fluid #Increased level of xylitol in CSF\n", + " definition of HP:0410075 (Increased CSF xylitol concentration)\n", + " \n", + " \n", + " Anti-HLA-B IgG3 antibody positivity\n", + " definition of HP:0034024 (Anti-HLA-B IgG3 antibody positivity)\n", + " \n", + " \n", + " The presence of IgG3 autoantibodies in the blood circulation that react against a human leukocyte antigen-B (HLA-B).\n", + " definition of HP:0034024 (Anti-HLA-B IgG3 antibody positivity)\n", + " \n", + " \n", + " Abnormal liver enzyme activity or concentration\n", + " definition of HP:0034685 (Abnormal liver enzyme activity or concentration)\n", + " \n", + " \n", + " Concentration or activity of an enzyme is above or below the limits of normal in liver tissue.\n", + " definition of HP:0034685 (Abnormal liver enzyme activity or concentration)\n", + " \n", + " \n", + " #Abnormal hepatic enzyme activity or concentration\n", + " definition of HP:0034685 (Abnormal liver enzyme activity or concentration)\n", + " \n", + " \n", + " Elevated urine dihydroxycholestanoic acid level\n", + " definition of HP:6001006 (Elevated urine dihydroxycholestanoic acid level)\n", + " \n", + " \n", + " The amount of dihydroxycholestanoic acid in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6001006 (Elevated urine dihydroxycholestanoic acid level)\n", + " \n", + " \n", + " #Elevated urine DHCA level\n", + " definition of HP:6001006 (Elevated urine dihydroxycholestanoic acid level)\n", + " \n", + " \n", + " Addictive cannabis use\n", + " definition of HP:5200341 (Addictive cannabis use)\n", + " \n", + " \n", + " A persistent and compulsive need to use cannabis, despite negative consequences.\n", + " definition of HP:5200341 (Addictive cannabis use)\n", + " \n", + " \n", + " #Addictive marijuana use #Cannabis addiction #Marijuana addiction\n", + " definition of HP:5200341 (Addictive cannabis use)\n", + " \n", + " \n", + " Abnormal corneal reflex\n", + " definition of HP:0034251 (Abnormal corneal reflex)\n", + " \n", + " \n", + " An anomaly of the corneal reflex that normally induces involuntary blinking of the eyelids following contact of the cornea.\n", + " definition of HP:0034251 (Abnormal corneal reflex)\n", + " \n", + " \n", + " Autosomal dominant inheritance with paternal imprinting\n", + " definition of HP:0012274 (Autosomal dominant inheritance with paternal imprinting)\n", + " \n", + " \n", + " A type of autosomal dominant inheritance involving a gene that is imprinted with paternal silencing.\n", + " definition of HP:0012274 (Autosomal dominant inheritance with paternal imprinting)\n", + " \n", + " \n", + " Intraluminal thrombi within interlobular veins\n", + " definition of HP:0033857 (Intraluminal thrombi within interlobular veins)\n", + " \n", + " \n", + " Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen of the interlobular veins of the kidney.\n", + " definition of HP:0033857 (Intraluminal thrombi within interlobular veins)\n", + " \n", + " \n", + " Hypoplasia of the tooth germ\n", + " definition of HP:0006353 (Hypoplasia of the tooth germ)\n", + " \n", + " \n", + " Developmental hypoplasia of the tooth germ, i.e., of the structure that forms in odontogenesis that will develop into a tooth.\n", + " definition of HP:0006353 (Hypoplasia of the tooth germ)\n", + " \n", + " \n", + " #Decreased size of tooth bud #Decreased size of tooth germ #Hypotrophic tooth germ #Small tooth bud #Small tooth germ\n", + " definition of HP:0006353 (Hypoplasia of the tooth germ)\n", + " \n", + " \n", + " Kappa Bence Jones proteinuria\n", + " definition of HP:0032302 (Kappa Bence Jones proteinuria)\n", + " \n", + " \n", + " The presence of free monoclonal kappa immunoglobulin light chains in the urine.\n", + " definition of HP:0032302 (Kappa Bence Jones proteinuria)\n", + " \n", + " \n", + " Hypoplasia of the vestibule of the inner ear\n", + " definition of HP:0011378 (Hypoplasia of the vestibule of the inner ear)\n", + " \n", + " \n", + " Underdevelopment of the vestibule of the inner ear.\n", + " definition of HP:0011378 (Hypoplasia of the vestibule of the inner ear)\n", + " \n", + " \n", + " Triangular epiphyses of the middle phalanges of the hand\n", + " definition of HP:0010267 (Triangular epiphyses of the middle phalanges of the hand)\n", + " \n", + " \n", + " #Triangular end part of the middle hand bones\n", + " definition of HP:0010267 (Triangular epiphyses of the middle phalanges of the hand)\n", + " \n", + " \n", + " Histrionic personality disorder\n", + " definition of HP:0012077 (Histrionic personality disorder)\n", + " \n", + " \n", + " A personality disorder characterized by shallow and labile affectivity, self-dramatization, theatricality, exaggerated expression of emotions, suggestibility, egocentricity, self-indulgence, lack of consideration for others, easily hurt feelings, and continuous seeking for appreciation, excitement and attention.\n", + " definition of HP:0012077 (Histrionic personality disorder)\n", + " \n", + " \n", + " Deflation of the glomerular tuft\n", + " definition of HP:0033268 (Deflation of the glomerular tuft)\n", + " \n", + " \n", + " Wrinkling and folding of the capillaries without epithelial cell (podocyte) hyperplasia (formerly called ischemic type of collapse) involving o 80% of the glomerular tuft. The wrinkling is generally made by small regular folds of the glomerular basement membrane.\n", + " definition of HP:0033268 (Deflation of the glomerular tuft)\n", + " \n", + " \n", + " Increased urinary sedoheptulose\n", + " definition of HP:0025157 (Increased urinary sedoheptulose)\n", + " \n", + " \n", + " An increased concentration of sedoheptulose in the urine. Sedoheptulose is a monosaccharide with seven carbon atoms and a ketone functional group.\n", + " definition of HP:0025157 (Increased urinary sedoheptulose)\n", + " \n", + " \n", + " Hepatic calcification\n", + " definition of HP:0006559 (Hepatic calcification)\n", + " \n", + " \n", + " The presence of abnormal calcium deposition in the liver.\n", + " definition of HP:0006559 (Hepatic calcification)\n", + " \n", + " \n", + " #Liver calcifications\n", + " definition of HP:0006559 (Hepatic calcification)\n", + " \n", + " \n", + " Radial deviation of the 4th finger\n", + " definition of HP:0009279 (Radial deviation of the 4th finger)\n", + " \n", + " \n", + " Displacement of the 4th finger towards the radial side (i.e., towards the thumb).\n", + " definition of HP:0009279 (Radial deviation of the 4th finger)\n", + " \n", + " \n", + " #Radial deviation of the ring finger\n", + " definition of HP:0009279 (Radial deviation of the 4th finger)\n", + " \n", + " \n", + " Bacteremia\n", + " definition of HP:0031864 (Bacteremia)\n", + " \n", + " \n", + " Presence of viable bacteria in the blood.\n", + " definition of HP:0031864 (Bacteremia)\n", + " \n", + " \n", + " #Bacteria in blood culture #Bacteria in blood cultures\n", + " definition of HP:0031864 (Bacteremia)\n", + " \n", + " \n", + " Femoral aplasia\n", + " definition of HP:0012744 (Femoral aplasia)\n", + " \n", + " \n", + " Failure of the femur to develop.\n", + " definition of HP:0012744 (Femoral aplasia)\n", + " \n", + " \n", + " #Absent femur #Absent thighbone #Aplasia of the femur\n", + " definition of HP:0012744 (Femoral aplasia)\n", + " \n", + " \n", + " Upslanting toenail\n", + " definition of HP:0032344 (Upslanting toenail)\n", + " \n", + " \n", + " Upturned concavity of toenails.\n", + " definition of HP:0032344 (Upslanting toenail)\n", + " \n", + " \n", + " #Ski-jump toenail #Upturned toenail\n", + " definition of HP:0032344 (Upslanting toenail)\n", + " \n", + " \n", + " Increased circulating free T4 concentration\n", + " definition of HP:0033077 (Increased circulating free T4 concentration)\n", + " \n", + " \n", + " An elevated concentration of free thyroxine (fT4) in the blood circulation.\n", + " definition of HP:0033077 (Increased circulating free T4 concentration)\n", + " \n", + " \n", + " #Increased circulating free T4 level\n", + " definition of HP:0033077 (Increased circulating free T4 concentration)\n", + " \n", + " \n", + " Myoglobin casts\n", + " definition of HP:0032593 (Myoglobin casts)\n", + " \n", + " \n", + " A type of acelluar casts with positive myoglobin staining A that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented.\n", + " definition of HP:0032593 (Myoglobin casts)\n", + " \n", + " \n", + " Alaninuria\n", + " definition of HP:0020078 (Alaninuria)\n", + " \n", + " \n", + " An increased level of alanine in the urine.\n", + " definition of HP:0020078 (Alaninuria)\n", + " \n", + " \n", + " #Increased urinary alanine\n", + " definition of HP:0020078 (Alaninuria)\n", + " \n", + " \n", + " Isoleucinuria\n", + " definition of HP:0032371 (Isoleucinuria)\n", + " \n", + " \n", + " An increased concentration of isoleucine in the urine.\n", + " definition of HP:0032371 (Isoleucinuria)\n", + " \n", + " \n", + " #Hyperisoleucinuria #Isoleucine high in urine\n", + " definition of HP:0032371 (Isoleucinuria)\n", + " \n", + " \n", + " Duplication of the phalanges of the 5th toe\n", + " definition of HP:0010391 (Duplication of the phalanges of the 5th toe)\n", + " \n", + " \n", + " Partial or complete duplication of one or more phalanx of little toe.\n", + " definition of HP:0010391 (Duplication of the phalanges of the 5th toe)\n", + " \n", + " \n", + " #Duplication of the bones of the little toe #Duplication of the bones of the pinkie toe #Duplication of the bones of the pinky toe #Duplication of the phalanges of the fifth toe #Partial/complete duplication of the phalanges of the 5th toe\n", + " definition of HP:0010391 (Duplication of the phalanges of the 5th toe)\n", + " \n", + " \n", + " Absent abdominal reflex\n", + " definition of HP:0031827 (Absent abdominal reflex)\n", + " \n", + " \n", + " Lack of contraction of abdominal muscles in the quadrant of the abdomen that is stimulated by scraping the skin tangential to or toward the umbilicus.\n", + " definition of HP:0031827 (Absent abdominal reflex)\n", + " \n", + " \n", + " #Abdominal reflex absent\n", + " definition of HP:0031827 (Absent abdominal reflex)\n", + " \n", + " \n", + " Increased circulating interleukin 2 concentration\n", + " definition of HP:0034489 (Increased circulating interleukin 2 concentration)\n", + " \n", + " \n", + " An increased concentration of interleukin-2 in the blood circulation.\n", + " definition of HP:0034489 (Increased circulating interleukin 2 concentration)\n", + " \n", + " \n", + " #IL-2 high in blood\n", + " definition of HP:0034489 (Increased circulating interleukin 2 concentration)\n", + " \n", + " \n", + " Abnormal circulating tryptophan concentration\n", + " definition of HP:0004365 (Abnormal circulating tryptophan concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of tryptophan in the blood circulation.\n", + " definition of HP:0004365 (Abnormal circulating tryptophan concentration)\n", + " \n", + " \n", + " #Abnormality of tryptophan metabolism\n", + " definition of HP:0004365 (Abnormal circulating tryptophan concentration)\n", + " \n", + " \n", + " Lactose intolerance\n", + " definition of HP:0004789 (Lactose intolerance)\n", + " \n", + " \n", + " An inability to digest lactose.\n", + " definition of HP:0004789 (Lactose intolerance)\n", + " \n", + " \n", + " #Lactose intolerance #Milk intolerance\n", + " definition of HP:0004789 (Lactose intolerance)\n", + " \n", + " \n", + " Interstitial dermal edema\n", + " definition of HP:0034989 (Interstitial dermal edema)\n", + " \n", + " \n", + " Accumulation of fluid in the interstitial spaces of the skin. This finding can be appreciated my microscopic examination of a skin biopsy.\n", + " definition of HP:0034989 (Interstitial dermal edema)\n", + " \n", + " \n", + " Mesangial matrix expansion\n", + " definition of HP:0033493 (Mesangial matrix expansion)\n", + " \n", + " \n", + " Increased mesangial extracellular material with interspace width of over 2 mesangial cell nuclei, in one or more peripheral mesangial areas.\n", + " definition of HP:0033493 (Mesangial matrix expansion)\n", + " \n", + " \n", + " #Increased glomerular mesangial matrix\n", + " definition of HP:0033493 (Mesangial matrix expansion)\n", + " \n", + " \n", + " Auditory agnosia\n", + " definition of HP:5200410 (Auditory agnosia)\n", + " \n", + " \n", + " The condition is characterized by the inability to recognize spoken languages and/or nonverbal environmental sounds and music, despite having adequate hearing. However, spontaneous speech, reading, and writing abilities remain intact.\n", + " definition of HP:5200410 (Auditory agnosia)\n", + " \n", + " \n", + " Chorioretinal coloboma\n", + " definition of HP:0000567 (Chorioretinal coloboma)\n", + " \n", + " \n", + " Absence of a region of the retina, retinal pigment epithelium, and choroid.\n", + " definition of HP:0000567 (Chorioretinal coloboma)\n", + " \n", + " \n", + " #Birth defect that causes a hole in the innermost layer at the back of the eye #Choroidoretinal coloboma\n", + " definition of HP:0000567 (Chorioretinal coloboma)\n", + " \n", + " \n", + " Tubulointerstitial fibrosis\n", + " definition of HP:0005576 (Tubulointerstitial fibrosis)\n", + " \n", + " \n", + " A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial fibrosis and/or Renal tubular atrophy.\n", + " definition of HP:0005576 (Tubulointerstitial fibrosis)\n", + " \n", + " \n", + " #Tubulointerstitial renal fibrosis\n", + " definition of HP:0005576 (Tubulointerstitial fibrosis)\n", + " \n", + " \n", + " Left bundle branch block\n", + " definition of HP:0011713 (Left bundle branch block)\n", + " \n", + " \n", + " A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG.\n", + " definition of HP:0011713 (Left bundle branch block)\n", + " \n", + " \n", + " Anti-neuromuscular Junction acetylcholine receptor antibody positivity\n", + " definition of HP:0030208 (Anti-neuromuscular Junction acetylcholine receptor antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neuromuscular junction acetylcholine receptors.\n", + " definition of HP:0030208 (Anti-neuromuscular Junction acetylcholine receptor antibody positivity)\n", + " \n", + " \n", + " #Acetylcholine receptor antibody positivity #Anti-AChR antibody positivity\n", + " definition of HP:0030208 (Anti-neuromuscular Junction acetylcholine receptor antibody positivity)\n", + " \n", + " \n", + " Elevated erythrocyte AICA-ribotide concentration\n", + " definition of HP:6000752 (Elevated erythrocyte AICA-ribotide concentration)\n", + " \n", + " \n", + " Concentration of 5-amino-4-imidazolecarboxamide (AICA-riboside) in red blood cells is above the upper limit of normal.\n", + " definition of HP:6000752 (Elevated erythrocyte AICA-ribotide concentration)\n", + " \n", + " \n", + " Tracheobronchial leiomyomatosis\n", + " definition of HP:0006524 (Tracheobronchial leiomyomatosis)\n", + " \n", + " \n", + " Osteochondritis dissecans\n", + " definition of HP:0010886 (Osteochondritis dissecans)\n", + " \n", + " \n", + " A joint disorder caused by blood deprivation in the subchondral bone causing the subchondral bone to die in a process called avascular necrosis. The bone is then reabsorbed by the body, leaving the articular cartilage it supported prone to damage. The result is fragmentation (dissection) of both cartilage and bone, and the free movement of these osteochondral fragments within the joint space, causing pain and further damage.\n", + " definition of HP:0010886 (Osteochondritis dissecans)\n", + " \n", + " \n", + " #Osteochondrosis dissecans\n", + " definition of HP:0010886 (Osteochondritis dissecans)\n", + " \n", + " \n", + " Broad carpal bones\n", + " definition of HP:0004242 (Broad carpal bones)\n", + " \n", + " \n", + " #Wide carpal bones\n", + " definition of HP:0004242 (Broad carpal bones)\n", + " \n", + " \n", + " Diminished prolactin response to thyrotrophin-releasing hormone stimulation\n", + " definition of HP:6000241 (Diminished prolactin response to thyrotrophin-releasing hormone stimulation)\n", + " \n", + " \n", + " The increase in prolactin concentration (PRL) following stimulation with thyrotropin (thyrdoid releasing hormone) as compared to baseline PRL concentration is below the lower limit of normal.\n", + " definition of HP:6000241 (Diminished prolactin response to thyrotrophin-releasing hormone stimulation)\n", + " \n", + " \n", + " Dermal multinucleated giant cells\n", + " definition of HP:6000057 (Dermal multinucleated giant cells)\n", + " \n", + " \n", + " Presence of giant cells in the dermis. Giant cells are formed by fusion of various cells such as macrophage, epithelioid cells, monocytes, etc., These are multi-nucleated, large in size, and generally present at the site of chronic inflammation and other granulomatous conditions.\n", + " definition of HP:6000057 (Dermal multinucleated giant cells)\n", + " \n", + " \n", + " #Multinucleated giant cells in skin\n", + " definition of HP:6000057 (Dermal multinucleated giant cells)\n", + " \n", + " \n", + " Triggered by pregnancy\n", + " definition of HP:0025221 (Triggered by pregnancy)\n", + " \n", + " \n", + " Applies to a sign or symptom that is provoked or brought about by pregnancy in a female.\n", + " definition of HP:0025221 (Triggered by pregnancy)\n", + " \n", + " \n", + " #Pregnancy triggered symptoms #Triggered by pregnancy\n", + " definition of HP:0025221 (Triggered by pregnancy)\n", + " \n", + " \n", + " Facial palsy secondary to cranial hyperostosis\n", + " definition of HP:0007285 (Facial palsy secondary to cranial hyperostosis)\n", + " \n", + " \n", + " Paralysis of the facial nerves on the basis of overgrowth of the cranial bones causing impingement upon the seventh cranial nerve.\n", + " definition of HP:0007285 (Facial palsy secondary to cranial hyperostosis)\n", + " \n", + " \n", + " #Facial palsy caused by enlargement of cranial bones #Facial palsy caused by excessive growth of facial bones #Facial palsy caused by overgrowth of cranial bones #Facial palsy secondary to hypertrophy of cranial bones\n", + " definition of HP:0007285 (Facial palsy secondary to cranial hyperostosis)\n", + " \n", + " \n", + " Renal necrosis\n", + " definition of HP:0032618 (Renal necrosis)\n", + " \n", + " \n", + " Cell death (necrosis) affecting one or more parts of the kidney.\n", + " definition of HP:0032618 (Renal necrosis)\n", + " \n", + " \n", + " #Renal parenchymal necrosis\n", + " definition of HP:0032618 (Renal necrosis)\n", + " \n", + " \n", + " Abnormality of masseter muscle\n", + " definition of HP:3000005 (Abnormality of masseter muscle)\n", + " \n", + " \n", + " An abnormality of a masseter muscle.\n", + " definition of HP:3000005 (Abnormality of masseter muscle)\n", + " \n", + " \n", + " Interlobular vein intimal mucoid edema\n", + " definition of HP:0033965 (Interlobular vein intimal mucoid edema)\n", + " \n", + " \n", + " Accumulation of edematous extracellular matrix in the intima of the interlobular vein of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining.\n", + " definition of HP:0033965 (Interlobular vein intimal mucoid edema)\n", + " \n", + " \n", + " #Intimal mucoid edema within interlobular veins #Intimal mucoid oedema within interlobular veins\n", + " definition of HP:0033965 (Interlobular vein intimal mucoid edema)\n", + " \n", + " \n", + " Expanded phalanges with widened medullary cavities\n", + " definition of HP:0006112 (Expanded phalanges with widened medullary cavities)\n", + " \n", + " \n", + " Bronchitis\n", + " definition of HP:0012387 (Bronchitis)\n", + " \n", + " \n", + " Inflammation of the large airways in the lung including any part of the bronchi from the primary bronchi to the tertiary bronchi.\n", + " definition of HP:0012387 (Bronchitis)\n", + " \n", + " \n", + " Anti-steroid 17alpha-hydroxylase antibody positivity\n", + " definition of HP:0034061 (Anti-steroid 17alpha-hydroxylase antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against steroid 17alpha-hydroxylase.\n", + " definition of HP:0034061 (Anti-steroid 17alpha-hydroxylase antibody positivity)\n", + " \n", + " \n", + " #Anti-P450C17\n", + " definition of HP:0034061 (Anti-steroid 17alpha-hydroxylase antibody positivity)\n", + " \n", + " \n", + " Ovarian mucinous tumor\n", + " definition of HP:0031494 (Ovarian mucinous tumor)\n", + " \n", + " \n", + " Ovarian mucinous neoplasms consist of borderline tumors (tumors of low malignant potential, or LMP tumors), intraepithelial (non-invasive) carcinoma, and invasive carcinoma.\n", + " definition of HP:0031494 (Ovarian mucinous tumor)\n", + " \n", + " \n", + " #Mucinous neoplasm of the ovary #Ovarian mucinous tumour\n", + " definition of HP:0031494 (Ovarian mucinous tumor)\n", + " \n", + " \n", + " Cough\n", + " definition of HP:0012735 (Cough)\n", + " \n", + " \n", + " A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.\n", + " definition of HP:0012735 (Cough)\n", + " \n", + " \n", + " #Cough #Coughing\n", + " definition of HP:0012735 (Cough)\n", + " \n", + " \n", + " Spastic hemiparetic gait\n", + " definition of HP:0031957 (Spastic hemiparetic gait)\n", + " \n", + " \n", + " Spastic hemiparesis is characterized by a dominance of the tonus in the upper limb flexor muscles: the arm is held in an adducted posture and is bent and rotated inwards, the forearm is pronated and the hand and the fingers are flexed. The leg is slightly bent at the hip, the knee cannot be extended fully at the end of the stance phase and the foot is inverted and in a plantar flexed position. Gait is slow, with a wide base and asymmetrical with a shortened weight-bearing phase on the paretic side. During the swing phase, the paretic leg performs a lateral movement (circumduction) which is characteristic of this gait disorder, also termed Wernicke-Mann gait. Spastic gait problems typically worsen on attempts to walk faster.\n", + " definition of HP:0031957 (Spastic hemiparetic gait)\n", + " \n", + " \n", + " #Wernicke-Mann gait\n", + " definition of HP:0031957 (Spastic hemiparetic gait)\n", + " \n", + " \n", + " Underdeveloped crus of the helix\n", + " definition of HP:0009898 (Underdeveloped crus of the helix)\n", + " \n", + " \n", + " Developmental hypoplasia of the crus of the helix. That is, flatter and/or shorter crus helix than average.\n", + " definition of HP:0009898 (Underdeveloped crus of the helix)\n", + " \n", + " \n", + " #Hypoplasia of the crus of the ear #Underdeveloped crus of the ear\n", + " definition of HP:0009898 (Underdeveloped crus of the helix)\n", + " \n", + " \n", + " Partial absence of finger\n", + " definition of HP:0011299 (Partial absence of finger)\n", + " \n", + " \n", + " The absence of a phalangeal segment of a finger.\n", + " definition of HP:0011299 (Partial absence of finger)\n", + " \n", + " \n", + " #Partial absence of finger\n", + " definition of HP:0011299 (Partial absence of finger)\n", + " \n", + " \n", + " Fetal nuchal edema\n", + " definition of HP:0034250 (Fetal nuchal edema)\n", + " \n", + " \n", + " Nuchal edema is considered present in a fetus at gestational week 14 or more if in the midsagittal plane of the neck, there is subcutaneous edema that produces a characteristic tremor on ballotment of the fetal head. This constitutes the severe end of the spectrum of increased nuchal fold thickness, which is defined as soft-tissue thickening of 6 mm or more, seen in the suboccipitobregmatic view of the fetal head. Nuchal edema may be confined to the neck or it may be generalized, as part of hydrops fetalis.\n", + " definition of HP:0034250 (Fetal nuchal edema)\n", + " \n", + " \n", + " Abnormality of the philtrum\n", + " definition of HP:0000288 (Abnormality of the philtrum)\n", + " \n", + " \n", + " An abnormality of the philtrum.\n", + " definition of HP:0000288 (Abnormality of the philtrum)\n", + " \n", + " \n", + " #Abnormal philtrum #Abnormality of the infranasal depression #Abnormality of the paralabial region\n", + " definition of HP:0000288 (Abnormality of the philtrum)\n", + " \n", + " \n", + " Hyposegmentation of neutrophil nuclei\n", + " definition of HP:0011447 (Hyposegmentation of neutrophil nuclei)\n", + " \n", + " \n", + " Hyposegmented (hypolobulated) or bilobed neutrophil nuclei.\n", + " definition of HP:0011447 (Hyposegmentation of neutrophil nuclei)\n", + " \n", + " \n", + " #Hyposegmentation of neutrophil nuclei in peripheral blood\n", + " definition of HP:0011447 (Hyposegmentation of neutrophil nuclei)\n", + " \n", + " \n", + " Horseshoe kidney\n", + " definition of HP:0000085 (Horseshoe kidney)\n", + " \n", + " \n", + " A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline.\n", + " definition of HP:0000085 (Horseshoe kidney)\n", + " \n", + " \n", + " #Horseshoe kidney #Horseshoe kidneys\n", + " definition of HP:0000085 (Horseshoe kidney)\n", + " \n", + " \n", + " Asymmetric, linear skin defects\n", + " definition of HP:0007398 (Asymmetric, linear skin defects)\n", + " \n", + " \n", + " Pseudoexfoliation\n", + " definition of HP:0012627 (Pseudoexfoliation)\n", + " \n", + " \n", + " Deposition of fibrillar material that can be found on all anterior segment structures bathed by aqueous humor.\n", + " definition of HP:0012627 (Pseudoexfoliation)\n", + " \n", + " \n", + " Worse in evening\n", + " definition of HP:0410401 (Worse in evening)\n", + " \n", + " \n", + " Applies to a sign or symptom that is exacerbated in the evening as compared to the day.\n", + " definition of HP:0410401 (Worse in evening)\n", + " \n", + " \n", + " Abnormality of the orbital region\n", + " definition of HP:0000315 (Abnormality of the orbital region)\n", + " \n", + " \n", + " #Abnormality of the eye region #Abnormality of the region around the eyes\n", + " definition of HP:0000315 (Abnormality of the orbital region)\n", + " \n", + " \n", + " Deviation of the 3rd toe\n", + " definition of HP:0010332 (Deviation of the 3rd toe)\n", + " \n", + " \n", + " #Displacement of the 3rd toe\n", + " definition of HP:0010332 (Deviation of the 3rd toe)\n", + " \n", + " \n", + " Triangular epiphyses of the 2nd toe\n", + " definition of HP:0100054 (Triangular epiphyses of the 2nd toe)\n", + " \n", + " \n", + " #Triangular end part of the 2nd toe bone\n", + " definition of HP:0100054 (Triangular epiphyses of the 2nd toe)\n", + " \n", + " \n", + " Abnormality of body height\n", + " definition of HP:0000002 (Abnormality of body height)\n", + " \n", + " \n", + " Deviation from the norm of height with respect to that which is expected according to age and gender norms.\n", + " definition of HP:0000002 (Abnormality of body height)\n", + " \n", + " \n", + " #Abnormality of body height\n", + " definition of HP:0000002 (Abnormality of body height)\n", + " \n", + " \n", + " Abnormality of the musculature of the limbs\n", + " definition of HP:0009127 (Abnormality of the musculature of the limbs)\n", + " \n", + " \n", + " #Abnormal limb muscles #Muscle issues in the arms and/or legs\n", + " definition of HP:0009127 (Abnormality of the musculature of the limbs)\n", + " \n", + " \n", + " Distal widening of metacarpals\n", + " definition of HP:0006048 (Distal widening of metacarpals)\n", + " \n", + " \n", + " Abnormal increase in width of the distal region of the metacarpal bones.\n", + " definition of HP:0006048 (Distal widening of metacarpals)\n", + " \n", + " \n", + " #Wide outermost end of long bone\n", + " definition of HP:0006048 (Distal widening of metacarpals)\n", + " \n", + " \n", + " Grayish enamel\n", + " definition of HP:0000683 (Grayish enamel)\n", + " \n", + " \n", + " A gray discoloration of the dental enamel.\n", + " definition of HP:0000683 (Grayish enamel)\n", + " \n", + " \n", + " #Gray colored tooth enamel #Gray tooth shade #Grayish enamel #Grey coloured tooth enamel #Grey tooth shade #Greyish enamel\n", + " definition of HP:0000683 (Grayish enamel)\n", + " \n", + " \n", + " Pericardial mesothelioma\n", + " definition of HP:0100004 (Pericardial mesothelioma)\n", + " \n", + " \n", + " A Malignant mesothelioma originating from cells of the pericardium (the thin layer of mesothelium lining the heart).\n", + " definition of HP:0100004 (Pericardial mesothelioma)\n", + " \n", + " \n", + " Coronary artery aneurysm\n", + " definition of HP:0030882 (Coronary artery aneurysm)\n", + " \n", + " \n", + " Enlargement of the diameter (cross-section) of a coronary artery as defined by a focal dilation of a segment at least 1.5 times larger than the reference vessel.\n", + " definition of HP:0030882 (Coronary artery aneurysm)\n", + " \n", + " \n", + " #Coronary arterial dilatation #Coronary artery dilatation #Coronary artery ectasia\n", + " definition of HP:0030882 (Coronary artery aneurysm)\n", + " \n", + " \n", + " Oblique astigmatism\n", + " definition of HP:0031787 (Oblique astigmatism)\n", + " \n", + " \n", + " Astigmatism in which the refractive power of the vertical meridian is the greatest.\n", + " definition of HP:0031787 (Oblique astigmatism)\n", + " \n", + " \n", + " Tongue pain\n", + " definition of HP:0030811 (Tongue pain)\n", + " \n", + " \n", + " An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the tongue.\n", + " definition of HP:0030811 (Tongue pain)\n", + " \n", + " \n", + " #Painful tongue\n", + " definition of HP:0030811 (Tongue pain)\n", + " \n", + " \n", + " Patchy sclerosis of the middle phalanx of the 5th toe\n", + " definition of HP:0100463 (Patchy sclerosis of the middle phalanx of the 5th toe)\n", + " \n", + " \n", + " Uneven increase in bone density of the middle phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.\n", + " definition of HP:0100463 (Patchy sclerosis of the middle phalanx of the 5th toe)\n", + " \n", + " \n", + " #Uneven increase in bone density in the middle bone of the little toe #Uneven increase in bone density in the middle bone of the pinkie toe #Uneven increase in bone density in the middle bone of the pinky toe\n", + " definition of HP:0100463 (Patchy sclerosis of the middle phalanx of the 5th toe)\n", + " \n", + " \n", + " Abnormal urine alpha-ketoglutarate concentration\n", + " definition of HP:0012401 (Abnormal urine alpha-ketoglutarate concentration)\n", + " \n", + " \n", + " A deviation from normal of the concentration of 2-oxoglutaric acid in the urine.\n", + " definition of HP:0012401 (Abnormal urine alpha-ketoglutarate concentration)\n", + " \n", + " \n", + " #Abnormal urinary 2-oxoglutarate level #Abnormality of urine alpha ketoglutarate concentration\n", + " definition of HP:0012401 (Abnormal urine alpha-ketoglutarate concentration)\n", + " \n", + " \n", + " Fractured proximal epiphysis of first metacarpal bone\n", + " definition of HP:0041197 (Fractured proximal epiphysis of first metacarpal bone)\n", + " \n", + " \n", + " A partial or complete breakage of the proximal epiphysis of first metacarpal bone.\n", + " definition of HP:0041197 (Fractured proximal epiphysis of first metacarpal bone)\n", + " \n", + " \n", + " #bone proximal epiphysis of first metacarpal bone\n", + " definition of HP:0041197 (Fractured proximal epiphysis of first metacarpal bone)\n", + " \n", + " \n", + " Saccular conjunctival dilatations\n", + " definition of HP:0007721 (Saccular conjunctival dilatations)\n", + " \n", + " \n", + " Presence of multiple dilatations (sac-like outpouchings) in the blood vessels of the conjunctiva.\n", + " definition of HP:0007721 (Saccular conjunctival dilatations)\n", + " \n", + " \n", + " Horizontal eyelid laxity\n", + " definition of HP:0032032 (Horizontal eyelid laxity)\n", + " \n", + " \n", + " Abnormally lax eyelid associated with tissue relaxation, predominantly in the horizontal plane. It can be demonstrated by the horizontal eyelid distraction test (e.g. by pulling the eyelid medially and laterally). Medial and/or lateral canthal tendon laxity are often present.\n", + " definition of HP:0032032 (Horizontal eyelid laxity)\n", + " \n", + " \n", + " Mizuo phenomenon\n", + " definition of HP:0030824 (Mizuo phenomenon)\n", + " \n", + " \n", + " Change in the color of the fundus from red in the dark-adapted state to golden immediately or shortly after the onset of the light. The color of the fundus reflex in the light adapted state has also been described as golden-yellow, gray-white, and yellow-white. This reflex can appear either homogeneous or in streaks in the fundus. The retinal vessels appear to be protruding in contrast to the radiant background. Dark adaptation leads to disappearance of the unusual fundus coloration [Digital Journal of Ophthalmology 2008; Volume 14, Number 14].\n", + " definition of HP:0030824 (Mizuo phenomenon)\n", + " \n", + " \n", + " #Mizuo-Nakamura phenomenon\n", + " definition of HP:0030824 (Mizuo phenomenon)\n", + " \n", + " \n", + " Abnormal circulating free fatty acid concentration\n", + " definition of HP:0040300 (Abnormal circulating free fatty acid concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of a free fatty acid in the blood circulation.\n", + " definition of HP:0040300 (Abnormal circulating free fatty acid concentration)\n", + " \n", + " \n", + " #Abnormal circulating free fatty acid level\n", + " definition of HP:0040300 (Abnormal circulating free fatty acid concentration)\n", + " \n", + " \n", + " Rib osteolysis\n", + " definition of HP:0034047 (Rib osteolysis)\n", + " \n", + " \n", + " Osteolysis (destruction of bone through bone resorption with removal or loss of calcium) localized to a rib.\n", + " definition of HP:0034047 (Rib osteolysis)\n", + " \n", + " \n", + " Nonprogressive muscular atrophy\n", + " definition of HP:0008964 (Nonprogressive muscular atrophy)\n", + " \n", + " \n", + " Muscular atrophy that does not display a progression in severity with time.\n", + " definition of HP:0008964 (Nonprogressive muscular atrophy)\n", + " \n", + " \n", + " Elevated circulating cholesterol sulfate concentration\n", + " definition of HP:6000565 (Elevated circulating cholesterol sulfate concentration)\n", + " \n", + " \n", + " The concentration of cholesterol sulfate in the blood circulation is above the upper limit of normal.\n", + " definition of HP:6000565 (Elevated circulating cholesterol sulfate concentration)\n", + " \n", + " \n", + " Elevated circulating S-adenosyl-L-homocysteine concentration\n", + " definition of HP:0034730 (Elevated circulating S-adenosyl-L-homocysteine concentration)\n", + " \n", + " \n", + " Increased concentration of S-adenosyl-L-homocysteine in the blood circulation.\n", + " definition of HP:0034730 (Elevated circulating S-adenosyl-L-homocysteine concentration)\n", + " \n", + " \n", + " #Elevated AdoHcy concentration\n", + " definition of HP:0034730 (Elevated circulating S-adenosyl-L-homocysteine concentration)\n", + " \n", + " \n", + " Bilateral vertebral artery hypoplasia\n", + " definition of HP:0030324 (Bilateral vertebral artery hypoplasia)\n", + " \n", + " \n", + " Underdevelopment of the vertebral artery on both sides.\n", + " definition of HP:0030324 (Bilateral vertebral artery hypoplasia)\n", + " \n", + " \n", + " Abnormality of globe location\n", + " definition of HP:0100886 (Abnormality of globe location)\n", + " \n", + " \n", + " An abnormality in the placement of the ocular globe (eyeball).\n", + " definition of HP:0100886 (Abnormality of globe location)\n", + " \n", + " \n", + " #Abnormality of eyeball location #Abnormality of eyeball position #Abnormality of globe position\n", + " definition of HP:0100886 (Abnormality of globe location)\n", + " \n", + " \n", + " Stellate iris\n", + " definition of HP:0012775 (Stellate iris)\n", + " \n", + " \n", + " A lacy pattern or iris pigmentation that resembles the spokes of a bicycle wheel.\n", + " definition of HP:0012775 (Stellate iris)\n", + " \n", + " \n", + " Increased CSF alanine concentration\n", + " definition of HP:0500233 (Increased CSF alanine concentration)\n", + " \n", + " \n", + " Abnormally increased levels of alanine in cerebrospinal fluid.\n", + " definition of HP:0500233 (Increased CSF alanine concentration)\n", + " \n", + " \n", + " #High alanine levels in cerebrospinal fluid\n", + " definition of HP:0500233 (Increased CSF alanine concentration)\n", + " \n", + " \n", + " Decreased stool elastase level\n", + " definition of HP:0034469 (Decreased stool elastase level)\n", + " \n", + " \n", + " Reduced amount of pancreatic elastase in the stool. This feature may be observed with pancreatic insufficiency.\n", + " definition of HP:0034469 (Decreased stool elastase level)\n", + " \n", + " \n", + " #Elastase low in stool\n", + " definition of HP:0034469 (Decreased stool elastase level)\n", + " \n", + " \n", + " Small epiphysis of the distal phalanx of the 3rd finger\n", + " definition of HP:0009343 (Small epiphysis of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms.\n", + " definition of HP:0009343 (Small epiphysis of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Small end part of the outermost long bone of the middle finger\n", + " definition of HP:0009343 (Small epiphysis of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Local anesthetic ineffectiveness\n", + " definition of HP:6001108 (Local anesthetic ineffectiveness)\n", + " \n", + " \n", + " Resistance to the effects of local anaesthesia, with delayed onset or failure of local anesthetics to incude numbness or relieve pain.\n", + " definition of HP:6001108 (Local anesthetic ineffectiveness)\n", + " \n", + " \n", + " Focal impaired awareness autonomic seizure\n", + " definition of HP:0032755 (Focal impaired awareness autonomic seizure)\n", + " \n", + " \n", + " A focal autonomic seizure characterized by impaired awareness at some point within the seizure.\n", + " definition of HP:0032755 (Focal impaired awareness autonomic seizure)\n", + " \n", + " \n", + " #Focal autonomic seizure with altered responsiveness #Localised autonomic seizure with altered responsiveness #Localized autonomic seizure with altered responsiveness #Partial autonomic seizure with altered responsiveness\n", + " definition of HP:0032755 (Focal impaired awareness autonomic seizure)\n", + " \n", + " \n", + " Anti-recoverin antibody positivity\n", + " definition of HP:6000882 (Anti-recoverin antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies in the serum that react against recoverin. Recoverins are calcium-binding proteins primarily expressed in retinal rod photoreceptors and primarily involved in phototransduction.\n", + " definition of HP:6000882 (Anti-recoverin antibody positivity)\n", + " \n", + " \n", + " #Anti-retinal CAR antigen antibody\n", + " definition of HP:6000882 (Anti-recoverin antibody positivity)\n", + " \n", + " \n", + " Abnormal dendritic cell count\n", + " definition of HP:0020178 (Abnormal dendritic cell count)\n", + " \n", + " \n", + " A deviation from the normal count of dendritic cells in the peripheral blood circulation. Dendritic cells are of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. These cells are lineage negative (CD3-negative, CD19-negative, CD34-negative, and CD56-negative).\n", + " definition of HP:0020178 (Abnormal dendritic cell count)\n", + " \n", + " \n", + " Intrahepatic cholestasis with episodic jaundice\n", + " definition of HP:0006575 (Intrahepatic cholestasis with episodic jaundice)\n", + " \n", + " \n", + " Triggered by sound\n", + " definition of HP:0025225 (Triggered by sound)\n", + " \n", + " \n", + " Applies to a sign or symptom that is provoked or brought about by exposure to sound or noise.\n", + " definition of HP:0025225 (Triggered by sound)\n", + " \n", + " \n", + " #Sound triggered symptoms #Triggered by sound\n", + " definition of HP:0025225 (Triggered by sound)\n", + " \n", + " \n", + " Axial myopia\n", + " definition of HP:0031730 (Axial myopia)\n", + " \n", + " \n", + " A form of myopia related to an axial length above the norm and too long for the refractive power of the whole optical system of the eye.\n", + " definition of HP:0031730 (Axial myopia)\n", + " \n", + " \n", + " Infection associated neutropenia\n", + " definition of HP:0410256 (Infection associated neutropenia)\n", + " \n", + " \n", + " Transient neutropenia caused by an infection, such as with a virus, bacteria or protozoan.\n", + " definition of HP:0410256 (Infection associated neutropenia)\n", + " \n", + " \n", + " Mobile lump\n", + " definition of HP:0025759 (Mobile lump)\n", + " \n", + " \n", + " This modifier is applied to a palpable mass or swelling in the body that can be moved or shifted under the skin when pressed or manipulated.\n", + " definition of HP:0025759 (Mobile lump)\n", + " \n", + " \n", + " #Mobile mass\n", + " definition of HP:0025759 (Mobile lump)\n", + " \n", + " \n", + " Abnormal diaphysis morphology\n", + " definition of HP:0000940 (Abnormal diaphysis morphology)\n", + " \n", + " \n", + " An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone.\n", + " definition of HP:0000940 (Abnormal diaphysis morphology)\n", + " \n", + " \n", + " #Abnormal shape of shaft of long bone #Abnormality involving the diaphyses of the limbs #Abnormality of shaft of long bone of the limbs #Abnormality of the diaphyses #Anomaly of the limb diaphyses #Anomaly of the limb diaphyses morphology\n", + " definition of HP:0000940 (Abnormal diaphysis morphology)\n", + " \n", + " \n", + " Granulomatous cholangitis\n", + " definition of HP:0030988 (Granulomatous cholangitis)\n", + " \n", + " \n", + " Cholangitis characterized by the accumulation of granulomas. Granulomas are aggregates of modified macrophages (epithelioid cells) and other inflammatory cells that accumulate after chronic exposure to antigens. The underlying trigger may be exposure to noxious agents that cannot be biochemically degraded or to immune dysfunction. The ultimate result is a release of a variety cytokines that stimulate mononuclear cells that fuse to form multinucleated giant cells with a surrounding rim of lymphocytes and fibroblasts.\n", + " definition of HP:0030988 (Granulomatous cholangitis)\n", + " \n", + " \n", + " Increased urinary neutrophil gelatinase-associated lipocalin\n", + " definition of HP:0020130 (Increased urinary neutrophil gelatinase-associated lipocalin)\n", + " \n", + " \n", + " An increased concentration of neutrophil gelatinase-associated lipocalin in the urine (there is no generally accepted threshold, but some studies choose a threshold of above 150 nanogram per milliliter).\n", + " definition of HP:0020130 (Increased urinary neutrophil gelatinase-associated lipocalin)\n", + " \n", + " \n", + " #Increased urinary NGAL\n", + " definition of HP:0020130 (Increased urinary neutrophil gelatinase-associated lipocalin)\n", + " \n", + " \n", + " Abnormal renal physiology\n", + " definition of HP:0012211 (Abnormal renal physiology)\n", + " \n", + " \n", + " An abnormal functionality of the kidney.\n", + " definition of HP:0012211 (Abnormal renal physiology)\n", + " \n", + " \n", + " #Abnormal kidney function #Abnormal renal function #Abnormality of renal physiology #Kidney function issue #Renal functional abnormality\n", + " definition of HP:0012211 (Abnormal renal physiology)\n", + " \n", + " \n", + " Duplication of the middle phalanx of the 3rd finger\n", + " definition of HP:0009963 (Duplication of the middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " Partial or complete duplication of the middle phalanx of middle finger.\n", + " definition of HP:0009963 (Duplication of the middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Duplication of the middle bone of the middle finger #Partial/complete duplication of the middle phalanx of the 3rd finger\n", + " definition of HP:0009963 (Duplication of the middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " Upper limb spasticity\n", + " definition of HP:0006986 (Upper limb spasticity)\n", + " \n", + " \n", + " #Spastic upper extremities #Spastic upper extremity #Spastic upper limb #Spastic upper limbs #Spasticity in upper extremities #Spasticity in upper extremity #Spasticity in upper limb #Spasticity in upper limbs #Spasticity of upper extremities #Spasticity of upper extremity #Spasticity of upper limb #Spasticity of upper limbs #Uncontrollable movement in upper arms #Upper extremities spasticity #Upper extremity spasticity\n", + " definition of HP:0006986 (Upper limb spasticity)\n", + " \n", + " \n", + " Abnormality of the tonsils\n", + " definition of HP:0100765 (Abnormality of the tonsils)\n", + " \n", + " \n", + " An abnormality of the tonsils.\n", + " definition of HP:0100765 (Abnormality of the tonsils)\n", + " \n", + " \n", + " Edematous chorionic villi\n", + " definition of HP:0033043 (Edematous chorionic villi)\n", + " \n", + " \n", + " Swelling of the chorionic villi owing to fluid accumulation.\n", + " definition of HP:0033043 (Edematous chorionic villi)\n", + " \n", + " \n", + " Tapered finger\n", + " definition of HP:0001182 (Tapered finger)\n", + " \n", + " \n", + " The gradual reduction in girth of the finger from proximal to distal.\n", + " definition of HP:0001182 (Tapered finger)\n", + " \n", + " \n", + " #Distally tapering fingers #Tapered finger #Tapered fingertips #Tapering fingers\n", + " definition of HP:0001182 (Tapered finger)\n", + " \n", + " \n", + " Elevated CSF apolipoprotein B concentration\n", + " definition of HP:6000204 (Elevated CSF apolipoprotein B concentration)\n", + " \n", + " \n", + " The concentration of apolipoprotein B in the cerebrospinal fluid (CSF) is above the upper limit of normal.\n", + " definition of HP:6000204 (Elevated CSF apolipoprotein B concentration)\n", + " \n", + " \n", + " #Apolipoprotein B high in CSF\n", + " definition of HP:6000204 (Elevated CSF apolipoprotein B concentration)\n", + " \n", + " \n", + " Abnormal surface-connected open canalicular system\n", + " definition of HP:0012485 (Abnormal surface-connected open canalicular system)\n", + " \n", + " \n", + " An anomaly of the invaginations of the surface membrane that form the open canalicular system (OCS). The OCS serve as the pathway for transport of substances into the cells and as conduits for the discharge of alpha granule products secreted during the platelet release reaction.\n", + " definition of HP:0012485 (Abnormal surface-connected open canalicular system)\n", + " \n", + " \n", + " Unilateral renal agenesis\n", + " definition of HP:0000122 (Unilateral renal agenesis)\n", + " \n", + " \n", + " A unilateral form of agenesis of the kidney.\n", + " definition of HP:0000122 (Unilateral renal agenesis)\n", + " \n", + " \n", + " #Absent kidney on one side #Missing one kidney #Single kidney #Unilateral kidney agenesis\n", + " definition of HP:0000122 (Unilateral renal agenesis)\n", + " \n", + " \n", + " Ragged cuticle\n", + " definition of HP:0030808 (Ragged cuticle)\n", + " \n", + " \n", + " The cuticle (properly known as the eponychium, or the medial nail fold or the proximal nail fold), is the thickened layer of skin surrounding fingernails and toenails. Its function is to protect the area between the nail and epidermis from exposure to bacteria. This term refers to the presence of and irregular edge or outline of the cuticle.\n", + " definition of HP:0030808 (Ragged cuticle)\n", + " \n", + " \n", + " Sclerosis of the proximal phalanx of the 3rd finger\n", + " definition of HP:0100909 (Sclerosis of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Increased bone density in innermost bone of the middle finger\n", + " definition of HP:0100909 (Sclerosis of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Cerebral white matter atrophy\n", + " definition of HP:0012762 (Cerebral white matter atrophy)\n", + " \n", + " \n", + " The presence of atrophy (wasting) of the cerebral white matter.\n", + " definition of HP:0012762 (Cerebral white matter atrophy)\n", + " \n", + " \n", + " Dextrocardia\n", + " definition of HP:0001651 (Dextrocardia)\n", + " \n", + " \n", + " The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or \\"mirror reflection\\") of the anatomical location of the heart in which the heart is locate on the right side instead of the left.\n", + " definition of HP:0001651 (Dextrocardia)\n", + " \n", + " \n", + " #Heart tip and four chambers point towards right side of body #Thoracic situs inversus\n", + " definition of HP:0001651 (Dextrocardia)\n", + " \n", + " \n", + " Ulnar deviated club hands\n", + " definition of HP:0006055 (Ulnar deviated club hands)\n", + " \n", + " \n", + " Facial hemangioma\n", + " definition of HP:0000329 (Facial hemangioma)\n", + " \n", + " \n", + " Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the face.\n", + " definition of HP:0000329 (Facial hemangioma)\n", + " \n", + " \n", + " #Facial hemangiomata\n", + " definition of HP:0000329 (Facial hemangioma)\n", + " \n", + " \n", + " Bracket epiphysis of the middle phalanx of the 3rd toe\n", + " definition of HP:0100147 (Bracket epiphysis of the middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Bracket shaped end part of the middle bone of 3rd toe\n", + " definition of HP:0100147 (Bracket epiphysis of the middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " Elevated urinary coproporphyrin level\n", + " definition of HP:6000536 (Elevated urinary coproporphyrin level)\n", + " \n", + " \n", + " The amount of a coproporphyrin in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000536 (Elevated urinary coproporphyrin level)\n", + " \n", + " \n", + " Hypotrophy of the small hand muscles\n", + " definition of HP:0006006 (Hypotrophy of the small hand muscles)\n", + " \n", + " \n", + " #Degeneration of small hand muscles\n", + " definition of HP:0006006 (Hypotrophy of the small hand muscles)\n", + " \n", + " \n", + " FMC7 expression\n", + " definition of HP:0430100 (FMC7 expression)\n", + " \n", + " \n", + " Detection of the presence of FMC7 on the cell(s) of interest with the use of anti-FMC7 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry).\n", + " definition of HP:0430100 (FMC7 expression)\n", + " \n", + " \n", + " Abnormal ovarian physiology\n", + " definition of HP:0031066 (Abnormal ovarian physiology)\n", + " \n", + " \n", + " Any anomaly of ovarian function.\n", + " definition of HP:0031066 (Abnormal ovarian physiology)\n", + " \n", + " \n", + " Osteolytic defects of the phalanges of the toes\n", + " definition of HP:0010177 (Osteolytic defects of the phalanges of the toes)\n", + " \n", + " \n", + " Disseminated cryptosporidium infection\n", + " definition of HP:0031699 (Disseminated cryptosporidium infection)\n", + " \n", + " \n", + " Failure to contain infection by a protozoan of the genus Cryptosporidium, leading to spread to many parts of the body.\n", + " definition of HP:0031699 (Disseminated cryptosporidium infection)\n", + " \n", + " \n", + " Hypolipoproteinemia\n", + " definition of HP:0010981 (Hypolipoproteinemia)\n", + " \n", + " \n", + " An abnormal decrease in the level of lipoprotein cholesterol in the blood.\n", + " definition of HP:0010981 (Hypolipoproteinemia)\n", + " \n", + " \n", + " #Lack of fat in blood\n", + " definition of HP:0010981 (Hypolipoproteinemia)\n", + " \n", + " \n", + " Increased urinary 11-deoxytetrahydrocorticosterone level\n", + " definition of HP:0032331 (Increased urinary 11-deoxytetrahydrocorticosterone level)\n", + " \n", + " \n", + " An abnormally elevated concentration or amount of 11-deoxytetrahydrocorticosterone the urine.\n", + " definition of HP:0032331 (Increased urinary 11-deoxytetrahydrocorticosterone level)\n", + " \n", + " \n", + " Megaloblepharon\n", + " definition of HP:0034428 (Megaloblepharon)\n", + " \n", + " \n", + " Disproportionately large eyelids\n", + " definition of HP:0034428 (Megaloblepharon)\n", + " \n", + " \n", + " Delayed passage of meconium\n", + " definition of HP:6000224 (Delayed passage of meconium)\n", + " \n", + " \n", + " Failure to pass meconium (the first stool following birth) in the first 48 hours of life.\n", + " definition of HP:6000224 (Delayed passage of meconium)\n", + " \n", + " \n", + " Tongue myxoma\n", + " definition of HP:0034668 (Tongue myxoma)\n", + " \n", + " \n", + " A myxoma (benign soft tissue neoplasm characterized by the presence of spindle and stellate cells, lobulated growth pattern, and myxoid stroma formation) localized in the tongue.\n", + " definition of HP:0034668 (Tongue myxoma)\n", + " \n", + " \n", + " Tactile sensory seeking\n", + " definition of HP:5200065 (Tactile sensory seeking)\n", + " \n", + " \n", + " Pursuit of a specific texture that is abnormal in intensity and/or frequency.\n", + " definition of HP:5200065 (Tactile sensory seeking)\n", + " \n", + " \n", + " Broad radial diaphysis\n", + " definition of HP:0004031 (Broad radial diaphysis)\n", + " \n", + " \n", + " Increase in width of the diaphysis of radius.\n", + " definition of HP:0004031 (Broad radial diaphysis)\n", + " \n", + " \n", + " #Wide radial diaphysis\n", + " definition of HP:0004031 (Broad radial diaphysis)\n", + " \n", + " \n", + " Supraventricular tachycardia with a concealed accessory pathway on the left free wall\n", + " definition of HP:0011691 (Supraventricular tachycardia with a concealed accessory pathway on the left free wall)\n", + " \n", + " \n", + " Abnormal response to insulin tolerance test\n", + " definition of HP:0031075 (Abnormal response to insulin tolerance test)\n", + " \n", + " \n", + " An anomalous response to the insulin tolerance test (ITT), in which insulin is administered intravenously and blood glucose and potentially other compounds are measured at intervals. Insulin administration is intended to induce extreme hypoglycemia (bloodgluoce below 40 mg/dl), which in turn induces release of adrenocorticotropic hormone (ACTH) and growth hormone (GH). ACTH induces the adrenal gland to release cortisol, which together with GH opposes the action of insulin on the blood glucose level.\n", + " definition of HP:0031075 (Abnormal response to insulin tolerance test)\n", + " \n", + " \n", + " Abnormal pitch\n", + " definition of HP:5200005 (Abnormal pitch)\n", + " \n", + " \n", + " Persistently abnormally high or low-pitched vocalization or speech than is considered the norm for the context of social situation or significantly different from baseline of the individual.\n", + " definition of HP:5200005 (Abnormal pitch)\n", + " \n", + " \n", + " Irregular epiphysis of the proximal phalanx of the 4th toe\n", + " definition of HP:0100196 (Irregular epiphysis of the proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " #Irregular end part of the innermost bone of the 4th toe\n", + " definition of HP:0100196 (Irregular epiphysis of the proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " Anterior sacral meningocele\n", + " definition of HP:0007293 (Anterior sacral meningocele)\n", + " \n", + " \n", + " Irregularly shaped sperm tail\n", + " definition of HP:0033393 (Irregularly shaped sperm tail)\n", + " \n", + " \n", + " Irregular or changing caliber (diameter) along the tail of the sperm.\n", + " definition of HP:0033393 (Irregularly shaped sperm tail)\n", + " \n", + " \n", + " #Sperm flagella with irregular caliber #Sperm flagella with irregular calibre\n", + " definition of HP:0033393 (Irregularly shaped sperm tail)\n", + " \n", + " \n", + " Hyperalaninemia\n", + " definition of HP:0003348 (Hyperalaninemia)\n", + " \n", + " \n", + " An increased concentration of alanine in the blood.\n", + " definition of HP:0003348 (Hyperalaninemia)\n", + " \n", + " \n", + " #Increased blood alanine #Increased serum alanine\n", + " definition of HP:0003348 (Hyperalaninemia)\n", + " \n", + " \n", + " Abnormal skeletal muscle morphology\n", + " definition of HP:0011805 (Abnormal skeletal muscle morphology)\n", + " \n", + " \n", + " A structural abnormality of a skeletal muscle.\n", + " definition of HP:0011805 (Abnormal skeletal muscle morphology)\n", + " \n", + " \n", + " #Abnormal muscle morphology #Abnormality of muscle morphology #Abnormally shaped muscle #Issue with muscle structure\n", + " definition of HP:0011805 (Abnormal skeletal muscle morphology)\n", + " \n", + " \n", + " Remnants of the hyaloid vascular system\n", + " definition of HP:0007968 (Remnants of the hyaloid vascular system)\n", + " \n", + " \n", + " Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disc to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract.\n", + " definition of HP:0007968 (Remnants of the hyaloid vascular system)\n", + " \n", + " \n", + " #Congenital retinal septum #Persistent fetal vasculature #Persistent foetal vasculature #Persistent hyperplasia of primary vitreous #Persistent hyperplastic primary vitreous #Persistent hypertrophic primary vitreous #Persistent posterior fetal fibrovascular sheath of the lens #Persistent posterior foetal fibrovascular sheath of the lens #Persistent tunica vasculosa lentis\n", + " definition of HP:0007968 (Remnants of the hyaloid vascular system)\n", + " \n", + " \n", + " Menometrorrhagia\n", + " definition of HP:0400008 (Menometrorrhagia)\n", + " \n", + " \n", + " Prolonged/excessive menses and bleeding at irregular intervals.\n", + " definition of HP:0400008 (Menometrorrhagia)\n", + " \n", + " \n", + " Hypoplastic distal humeri\n", + " definition of HP:0005025 (Hypoplastic distal humeri)\n", + " \n", + " \n", + " Underdevelopment of the distal portion of the humerus.\n", + " definition of HP:0005025 (Hypoplastic distal humeri)\n", + " \n", + " \n", + " Increased circulating fetuin A concentration\n", + " definition of HP:0033307 (Increased circulating fetuin A concentration)\n", + " \n", + " \n", + " An elevation above normal of fetuin A in the blood circulation.\n", + " definition of HP:0033307 (Increased circulating fetuin A concentration)\n", + " \n", + " \n", + " Abnormal ocular adnexa morphology\n", + " definition of HP:0030669 (Abnormal ocular adnexa morphology)\n", + " \n", + " \n", + " A structural anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva.\n", + " definition of HP:0030669 (Abnormal ocular adnexa morphology)\n", + " \n", + " \n", + " Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal\n", + " definition of HP:0100484 (Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal)\n", + " \n", + " \n", + " #Fused innermost bones of third toe with 3rd long bone of foot\n", + " definition of HP:0100484 (Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal)\n", + " \n", + " \n", + " Amygdala microinfarct\n", + " definition of HP:0033988 (Amygdala microinfarct)\n", + " \n", + " \n", + " An infarct located in the almond-shaped body of basal nuclei anterior to the inferior horn of the lateral ventricle of the brain, within the temporal lobe that can only be observed microscopically.\n", + " definition of HP:0033988 (Amygdala microinfarct)\n", + " \n", + " \n", + " Abnormal posterior semicircular canal morphology\n", + " definition of HP:0040107 (Abnormal posterior semicircular canal morphology)\n", + " \n", + " \n", + " #Morphological abnormality of the posterior semicircular canal\n", + " definition of HP:0040107 (Abnormal posterior semicircular canal morphology)\n", + " \n", + " \n", + " Finger joint hypermobility\n", + " definition of HP:0006094 (Finger joint hypermobility)\n", + " \n", + " \n", + " #Increased mobility in finger joint\n", + " definition of HP:0006094 (Finger joint hypermobility)\n", + " \n", + " \n", + " Abnormal glomerular parietal epithelial cell morphology\n", + " definition of HP:0033223 (Abnormal glomerular parietal epithelial cell morphology)\n", + " \n", + " \n", + " Any structural abnormality of the parietal epithelial cells that line the inside of Bowman's capsule and form an inconspicuous sheet of flat epithelial cells in continuity with the proximal tubular epithelial cells at the urinary pole and with the podocytes at the vascular pole.\n", + " definition of HP:0033223 (Abnormal glomerular parietal epithelial cell morphology)\n", + " \n", + " \n", + " Facial grimacing\n", + " definition of HP:0000273 (Facial grimacing)\n", + " \n", + " \n", + " #Facial grimacing\n", + " definition of HP:0000273 (Facial grimacing)\n", + " \n", + " \n", + " Bullet-shaped phalanges of the 3rd finger\n", + " definition of HP:0009441 (Bullet-shaped phalanges of the 3rd finger)\n", + " \n", + " \n", + " A third finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.\n", + " definition of HP:0009441 (Bullet-shaped phalanges of the 3rd finger)\n", + " \n", + " \n", + " #Bullet-shaped bones of middle finger\n", + " definition of HP:0009441 (Bullet-shaped phalanges of the 3rd finger)\n", + " \n", + " \n", + " Subendothelial glomerular basement membrane electron dense deposits\n", + " definition of HP:0033500 (Subendothelial glomerular basement membrane electron dense deposits)\n", + " \n", + " \n", + " Electron dense deposits in the glomerular basement membrane (GBM) subendothelial space associated with a prominent GBM reflecting an increase in thickness. This feature can be associated with GBM remodeling along the endothelial aspect.\n", + " definition of HP:0033500 (Subendothelial glomerular basement membrane electron dense deposits)\n", + " \n", + " \n", + " Abnormality of extrinsic muscle of tongue\n", + " definition of HP:0040174 (Abnormality of extrinsic muscle of tongue)\n", + " \n", + " \n", + " #Abnormality of extrinsic lingual muscle\n", + " definition of HP:0040174 (Abnormality of extrinsic muscle of tongue)\n", + " \n", + " \n", + " Elbow pain\n", + " definition of HP:0030835 (Elbow pain)\n", + " \n", + " \n", + " An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the elbow.\n", + " definition of HP:0030835 (Elbow pain)\n", + " \n", + " \n", + " #Elbow pain\n", + " definition of HP:0030835 (Elbow pain)\n", + " \n", + " \n", + " Abnormality of skull ossification\n", + " definition of HP:0002703 (Abnormality of skull ossification)\n", + " \n", + " \n", + " An abnormality of the process of ossification of the skull.\n", + " definition of HP:0002703 (Abnormality of skull ossification)\n", + " \n", + " \n", + " Elevated urinary histamine level\n", + " definition of HP:6000532 (Elevated urinary histamine level)\n", + " \n", + " \n", + " The amount of histamine in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000532 (Elevated urinary histamine level)\n", + " \n", + " \n", + " Stippling of the epiphysis of the proximal phalanx of the 2nd toe\n", + " definition of HP:0100131 (Stippling of the epiphysis of the proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 2nd toe.\n", + " definition of HP:0100131 (Stippling of the epiphysis of the proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Speckled calcifications in the end part of the innermost bone of the 2nd toe\n", + " definition of HP:0100131 (Stippling of the epiphysis of the proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Occipital horn\n", + " definition of HP:0034975 (Occipital horn)\n", + " \n", + " \n", + " Downward pointing exostoses of the occipital bone situated in the tendinous insertions of the sternocleidomastoid and trapezius muscles.\n", + " definition of HP:0034975 (Occipital horn)\n", + " \n", + " \n", + " Supraventricular arrhythmia\n", + " definition of HP:0005115 (Supraventricular arrhythmia)\n", + " \n", + " \n", + " A type of arrhythmia that originates above the ventricles, whereby the electrical impulse propagates down the normal His Purkinje system similar to normal sinus rhythm.\n", + " definition of HP:0005115 (Supraventricular arrhythmia)\n", + " \n", + " \n", + " #Supraventricular arrhythmias\n", + " definition of HP:0005115 (Supraventricular arrhythmia)\n", + " \n", + " \n", + " Abnormality of the axillary hair\n", + " definition of HP:0100134 (Abnormality of the axillary hair)\n", + " \n", + " \n", + " Abnormality of the growth of the axillary hair. Axillary hair is part of the secondary sexual hair, which normally ensues during puberty.\n", + " definition of HP:0100134 (Abnormality of the axillary hair)\n", + " \n", + " \n", + " Singsong Intonation\n", + " definition of HP:0031436 (Singsong Intonation)\n", + " \n", + " \n", + " A speech pattern characterized by abnormal fluctuations in the pitch of the voice.\n", + " definition of HP:0031436 (Singsong Intonation)\n", + " \n", + " \n", + " #Melodic speech #Sing song intonation #Sing-song intonation\n", + " definition of HP:0031436 (Singsong Intonation)\n", + " \n", + " \n", + " Brain imaging abnormality\n", + " definition of HP:0410263 (Brain imaging abnormality)\n", + " \n", + " \n", + " An anomaly of metabolism or structure of the brain identified by imaging.\n", + " definition of HP:0410263 (Brain imaging abnormality)\n", + " \n", + " \n", + " #Abnormal brain imaging\n", + " definition of HP:0410263 (Brain imaging abnormality)\n", + " \n", + " \n", + " Generalized arterial tortuosity\n", + " definition of HP:0004955 (Generalized arterial tortuosity)\n", + " \n", + " \n", + " Abnormal tortuous (i.e., twisted) form of arteries affecting most or all arteries.\n", + " definition of HP:0004955 (Generalized arterial tortuosity)\n", + " \n", + " \n", + " #Generalised arterial tortuosity #Generalised twisted arteries #Generalized twisted arteries\n", + " definition of HP:0004955 (Generalized arterial tortuosity)\n", + " \n", + " \n", + " Recurrent aphthous stomatitis\n", + " definition of HP:0011107 (Recurrent aphthous stomatitis)\n", + " \n", + " \n", + " Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border.\n", + " definition of HP:0011107 (Recurrent aphthous stomatitis)\n", + " \n", + " \n", + " #Recurrent canker sores #Recurrent oral aphthae\n", + " definition of HP:0011107 (Recurrent aphthous stomatitis)\n", + " \n", + " \n", + " Polycystic liver disease\n", + " definition of HP:0006557 (Polycystic liver disease)\n", + " \n", + " \n", + " Abnormal hepatic glycogen storage\n", + " definition of HP:0500030 (Abnormal hepatic glycogen storage)\n", + " \n", + " \n", + " Change in normal glycogen storage content.\n", + " definition of HP:0500030 (Abnormal hepatic glycogen storage)\n", + " \n", + " \n", + " Proximal radioulnar joint dislocation\n", + " definition of HP:6000890 (Proximal radioulnar joint dislocation)\n", + " \n", + " \n", + " he proximal radioulnar translocation means that both the radius and ulna are dislocated from the humerus.\n", + " definition of HP:6000890 (Proximal radioulnar joint dislocation)\n", + " \n", + " \n", + " Bronchial wall thickening\n", + " definition of HP:0033542 (Bronchial wall thickening)\n", + " \n", + " \n", + " Radiological appearance of increased density around the walls of a bronchus or large bronchiole. This feature is thought to be related to edema involving the bronchial wall as well as the peribronchial interstitial space. If the cross section of a bronchus is captured in a radiograph or computed tomography image, it is said to have the appearance of a donut because of the central lucency representing the airway of the bronchus surrounded by a circular region of increased density.\n", + " definition of HP:0033542 (Bronchial wall thickening)\n", + " \n", + " \n", + " #Peribronchial cuffing #Peribronchial thickening\n", + " definition of HP:0033542 (Bronchial wall thickening)\n", + " \n", + " \n", + " Electronic cigarette exposure history\n", + " definition of HP:0430032 (Electronic cigarette exposure history)\n", + " \n", + " \n", + " History of use of electronic cigarettes (vaping).\n", + " definition of HP:0430032 (Electronic cigarette exposure history)\n", + " \n", + " \n", + " #Electronic cigarette or vape use #Vaping\n", + " definition of HP:0430032 (Electronic cigarette exposure history)\n", + " \n", + " \n", + " Posterior polar cataract\n", + " definition of HP:0001115 (Posterior polar cataract)\n", + " \n", + " \n", + " A polar cataract that affects the posterior pole of the lens.\n", + " definition of HP:0001115 (Posterior polar cataract)\n", + " \n", + " \n", + " #Polar cataract, posterior\n", + " definition of HP:0001115 (Posterior polar cataract)\n", + " \n", + " \n", + " Recurrent candida infections\n", + " definition of HP:0005401 (Recurrent candida infections)\n", + " \n", + " \n", + " An increased susceptibility to candida infections, as manifested by a history of recurrent episodes of candida infections.\n", + " definition of HP:0005401 (Recurrent candida infections)\n", + " \n", + " \n", + " #Frequent candida infections\n", + " definition of HP:0005401 (Recurrent candida infections)\n", + " \n", + " \n", + " Genetic anticipation with paternal anticipation bias\n", + " definition of HP:0003744 (Genetic anticipation with paternal anticipation bias)\n", + " \n", + " \n", + " A type of genetic anticipation observed predominantly upon transmission from affected males.\n", + " definition of HP:0003744 (Genetic anticipation with paternal anticipation bias)\n", + " \n", + " \n", + " Rigors\n", + " definition of HP:0025145 (Rigors)\n", + " \n", + " \n", + " Severe chills with violent shivering. A rigor is an episode of shaking or exaggerated shivering which can occur with a high fever.\n", + " definition of HP:0025145 (Rigors)\n", + " \n", + " \n", + " #Rigours\n", + " definition of HP:0025145 (Rigors)\n", + " \n", + " \n", + " Increased urinary O-linked sialopeptides\n", + " definition of HP:0003461 (Increased urinary O-linked sialopeptides)\n", + " \n", + " \n", + " Excretion of peptides conjugated to sialic acid in the urine.\n", + " definition of HP:0003461 (Increased urinary O-linked sialopeptides)\n", + " \n", + " \n", + " Abnormal Descemet membrane morphology\n", + " definition of HP:0011490 (Abnormal Descemet membrane morphology)\n", + " \n", + " \n", + " Abnormality of Descemet's membrane, which is the basement membrane of the corneal endothelium.\n", + " definition of HP:0011490 (Abnormal Descemet membrane morphology)\n", + " \n", + " \n", + " #Abnormality of Descemet's membrane\n", + " definition of HP:0011490 (Abnormal Descemet membrane morphology)\n", + " \n", + " \n", + " Positive hydrogen breath test\n", + " definition of HP:6000259 (Positive hydrogen breath test)\n", + " \n", + " \n", + " Abnormally elevated quantiy of hydrogen measured by a hydrogen breath test (HBT). HBTs administer substrates such as glucose, lactulose, lactose and fructose and subsequently measure hydrogen exhaled in the breath using a gas chromatograph.\n", + " definition of HP:6000259 (Positive hydrogen breath test)\n", + " \n", + " \n", + " #Positive glucose hydrogen breath test #Positive glucose or lactulose hydrogen breath test #Positive lactulose hydrogen breath test\n", + " definition of HP:6000259 (Positive hydrogen breath test)\n", + " \n", + " \n", + " Increased cardiac index\n", + " definition of HP:0033530 (Increased cardiac index)\n", + " \n", + " \n", + " An elevated cardiac index, defined as cardiac output divided by body surface area.\n", + " definition of HP:0033530 (Increased cardiac index)\n", + " \n", + " \n", + " Ophthalmic artery occlusion\n", + " definition of HP:0020164 (Ophthalmic artery occlusion)\n", + " \n", + " \n", + " A partial or complete obstruction of the ophthalmic artery (branch of the internal carotid artery) that may lead to severe ischemia of the affected globe and associated ocular tissues. It can present with a similar picture to central retinal artery occlusion; however, profound choroidal ischaemia also occurs.\n", + " definition of HP:0020164 (Ophthalmic artery occlusion)\n", + " \n", + " \n", + " Absent facial hair\n", + " definition of HP:0002550 (Absent facial hair)\n", + " \n", + " \n", + " Absence of facial hair.\n", + " definition of HP:0002550 (Absent facial hair)\n", + " \n", + " \n", + " #Absent facial hair\n", + " definition of HP:0002550 (Absent facial hair)\n", + " \n", + " \n", + " Increased anti-parasite IgE antibody level\n", + " definition of HP:0410234 (Increased anti-parasite IgE antibody level)\n", + " \n", + " \n", + " Increased level of IgE antibody against parasites, such as helminths (parasitic worms, such as Ascaris lumbricoides, Trichuris trichiura, Ancylostoma duodenalis, Necator americanus, Strongyloides stercoralis) or parasites such as Toxoplasma gondii.\n", + " definition of HP:0410234 (Increased anti-parasite IgE antibody level)\n", + " \n", + " \n", + " Inflammatory myopathy\n", + " definition of HP:0009071 (Inflammatory myopathy)\n", + " \n", + " \n", + " Chronic muscle inflammation accompanied by muscle weakness.\n", + " definition of HP:0009071 (Inflammatory myopathy)\n", + " \n", + " \n", + " Gait disturbance\n", + " definition of HP:0001288 (Gait disturbance)\n", + " \n", + " \n", + " The term gait disturbance can refer to any disruption of the ability to walk.\n", + " definition of HP:0001288 (Gait disturbance)\n", + " \n", + " \n", + " #Abnormal gait #Abnormal walk #Difficulty in walking #Gait abnormalities #Gait difficulties #Gait disturbances #Impaired gait #Walking disability\n", + " definition of HP:0001288 (Gait disturbance)\n", + " \n", + " \n", + " Prostatic calculus\n", + " definition of HP:0034882 (Prostatic calculus)\n", + " \n", + " \n", + " Calcium deposits in the prostate gland.\n", + " definition of HP:0034882 (Prostatic calculus)\n", + " \n", + " \n", + " #Prostatic calcul\n", + " definition of HP:0034882 (Prostatic calculus)\n", + " \n", + " \n", + " Large foramen magnum\n", + " definition of HP:0002700 (Large foramen magnum)\n", + " \n", + " \n", + " An abnormal increase in the size of the foramen magnum.\n", + " definition of HP:0002700 (Large foramen magnum)\n", + " \n", + " \n", + " #Big foramen magnum #Dilation of foramen magnum #Enlarged foramen magnum #Wide foramen magnum\n", + " definition of HP:0002700 (Large foramen magnum)\n", + " \n", + " \n", + " Enlarged pituitary gland\n", + " definition of HP:0012505 (Enlarged pituitary gland)\n", + " \n", + " \n", + " An abnormally increased size of the pituitary gland.\n", + " definition of HP:0012505 (Enlarged pituitary gland)\n", + " \n", + " \n", + " Ossifying fibroma of the jaw\n", + " definition of HP:0030427 (Ossifying fibroma of the jaw)\n", + " \n", + " \n", + " A benign central bone tumor of the jaw composed of fibrous connective tissue within which bone is formed.\n", + " definition of HP:0030427 (Ossifying fibroma of the jaw)\n", + " \n", + " \n", + " Limitation of movement at ankles\n", + " definition of HP:0010505 (Limitation of movement at ankles)\n", + " \n", + " \n", + " An abnormal limitation of the mobility of the ankle joint.\n", + " definition of HP:0010505 (Limitation of movement at ankles)\n", + " \n", + " \n", + " Arcuate vein intima/medial amyloidosis\n", + " definition of HP:0033882 (Arcuate vein intima/medial amyloidosis)\n", + " \n", + " \n", + " Amorphous extracellular substance in the inner or middle layer of the arcuate veins of the kidney. Amyloidosis stains Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy.\n", + " definition of HP:0033882 (Arcuate vein intima/medial amyloidosis)\n", + " \n", + " \n", + " #Amyloidosis within arcuate vein intima/media\n", + " definition of HP:0033882 (Arcuate vein intima/medial amyloidosis)\n", + " \n", + " \n", + " Abnormal interest\n", + " definition of HP:4000068 (Abnormal interest)\n", + " \n", + " \n", + " Any deviation from normal intensity or subject of a person's interests, which can be defined as a state of giving selective attention to something.\n", + " definition of HP:4000068 (Abnormal interest)\n", + " \n", + " \n", + " Osteolytic defects of the phalanges of the 3rd toe\n", + " definition of HP:0010363 (Osteolytic defects of the phalanges of the 3rd toe)\n", + " \n", + " \n", + " Methicillin-resistant Staphylococcus aureus infection\n", + " definition of HP:0032326 (Methicillin-resistant Staphylococcus aureus infection)\n", + " \n", + " \n", + " Infection with staphylococcus aureus resistant to the antibiotic methicillin (MRSA). MRSA can infect any individual but is more common among hospitalized patients, and can also occur as an opportunistic infection.\n", + " definition of HP:0032326 (Methicillin-resistant Staphylococcus aureus infection)\n", + " \n", + " \n", + " #MRSA infection\n", + " definition of HP:0032326 (Methicillin-resistant Staphylococcus aureus infection)\n", + " \n", + " \n", + " CSF autoimmune antibody positivity\n", + " definition of HP:0032265 (CSF autoimmune antibody positivity)\n", + " \n", + " \n", + " The presence of an antibody in the cerebrospinal fluid (CSF) that is directed against the organism's own cells or tissues.\n", + " definition of HP:0032265 (CSF autoimmune antibody positivity)\n", + " \n", + " \n", + " #Cerebrospinal fluid autoimmune antibody positivity\n", + " definition of HP:0032265 (CSF autoimmune antibody positivity)\n", + " \n", + " \n", + " Myofiber disarray\n", + " definition of HP:0031318 (Myofiber disarray)\n", + " \n", + " \n", + " A nonparallel arrangement of cardiac myocytes.\n", + " definition of HP:0031318 (Myofiber disarray)\n", + " \n", + " \n", + " #Myocardial fiber disarray #Myocardial fibre disarray\n", + " definition of HP:0031318 (Myofiber disarray)\n", + " \n", + " \n", + " Elevated urinary carboxylic acid\n", + " definition of HP:0040156 (Elevated urinary carboxylic acid)\n", + " \n", + " \n", + " An increased amount of carboxylic acid in the urine.\n", + " definition of HP:0040156 (Elevated urinary carboxylic acid)\n", + " \n", + " \n", + " Abnormal epiphysis morphology\n", + " definition of HP:0005930 (Abnormal epiphysis morphology)\n", + " \n", + " \n", + " An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.\n", + " definition of HP:0005930 (Abnormal epiphysis morphology)\n", + " \n", + " \n", + " #Abnormal shape of end part of bone #Abnormality of epiphysis morphology #Abnormality of the epiphyses #Anomaly of the epiphyses #Epiphyseal abnormality\n", + " definition of HP:0005930 (Abnormal epiphysis morphology)\n", + " \n", + " \n", + " Limited Repertoire of gestures\n", + " definition of HP:5200101 (Limited Repertoire of gestures)\n", + " \n", + " \n", + " Decreased circulating complement C9 concentration\n", + " definition of HP:0012308 (Decreased circulating complement C9 concentration)\n", + " \n", + " \n", + " Concentration of the complement component C9 in the blood circulation below the lower limit of normal.\n", + " definition of HP:0012308 (Decreased circulating complement C9 concentration)\n", + " \n", + " \n", + " #Decreased serum C9 #Decreased serum complement C9\n", + " definition of HP:0012308 (Decreased circulating complement C9 concentration)\n", + " \n", + " \n", + " Azotemia\n", + " definition of HP:0002157 (Azotemia)\n", + " \n", + " \n", + " An increased concentration of nitrogen compounds in the blood.\n", + " definition of HP:0002157 (Azotemia)\n", + " \n", + " \n", + " #Azotaemia\n", + " definition of HP:0002157 (Azotemia)\n", + " \n", + " \n", + " Nonimmune hydrops fetalis\n", + " definition of HP:0001790 (Nonimmune hydrops fetalis)\n", + " \n", + " \n", + " A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens .\n", + " definition of HP:0001790 (Nonimmune hydrops fetalis)\n", + " \n", + " \n", + " #Hydrops fetalis, non-immune #Hydrops fetalis, nonimmune #Non-immune fetal hydrops #Non-immune foetal hydrops #Nonimmune hydrops\n", + " definition of HP:0001790 (Nonimmune hydrops fetalis)\n", + " \n", + " \n", + " Budd-Chiari syndrome\n", + " definition of HP:0002639 (Budd-Chiari syndrome)\n", + " \n", + " \n", + " Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow at any level from the small hepatic veins to the junction of the inferior vena cava (IVC) with the right atrium, 1 and occurs in 1/100,000 of the general population worldwide. The most common presentation is with ascites, but can range from fulminant hepatic failure (FHF) to asymptomatic forms. Obstruction of hepatic venous outflow is mainly caused by primary intravascular thrombosis, which can occur suddenly or be repeated over time, accompanied by some revascularization, accounting for the variable parenchymal hepatic damage and histologic presentation. Budd-Chiari syndrome is thus a disease, but since it occurs as a manifestation of several other diseases, this term is kept for the present for convenience.\n", + " definition of HP:0002639 (Budd-Chiari syndrome)\n", + " \n", + " \n", + " Multifocal hyperintensity of cerebral white matter on MRI\n", + " definition of HP:0040329 (Multifocal hyperintensity of cerebral white matter on MRI)\n", + " \n", + " \n", + " An abnormal area of increased brightness (hyperintensity) that occurs in several distinct areas.\n", + " definition of HP:0040329 (Multifocal hyperintensity of cerebral white matter on MRI)\n", + " \n", + " \n", + " Focal necrotic brainstem lesion\n", + " definition of HP:0034986 (Focal necrotic brainstem lesion)\n", + " \n", + " \n", + " A localized area of cell death, often accompanied by infiltration of inflammatory cells, in the brainstem.\n", + " definition of HP:0034986 (Focal necrotic brainstem lesion)\n", + " \n", + " \n", + " Osteolysis\n", + " definition of HP:0002797 (Osteolysis)\n", + " \n", + " \n", + " Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium.\n", + " definition of HP:0002797 (Osteolysis)\n", + " \n", + " \n", + " #Breakdown of bone #Increased bone resorption #Osteolytic defects of bones\n", + " definition of HP:0002797 (Osteolysis)\n", + " \n", + " \n", + " Localized to the penis\n", + " definition of HP:6000052 (Localized to the penis)\n", + " \n", + " \n", + " Applies to a finding that is situated or occurring in or on the penis.\n", + " definition of HP:6000052 (Localized to the penis)\n", + " \n", + " \n", + " Follicular lymphoma\n", + " definition of HP:0033125 (Follicular lymphoma)\n", + " \n", + " \n", + " An indolent B cell lymphoproliferative disorder of transformed follicular center B cells. Follicular lymphoma is characterized by diffuse lymphadenopathy, bone marrow involvement, splenomegaly and less commonly other extranodal sites of involvement.\n", + " definition of HP:0033125 (Follicular lymphoma)\n", + " \n", + " \n", + " Focal impaired awareness autonomic seizure with piloerection\n", + " definition of HP:0032772 (Focal impaired awareness autonomic seizure with piloerection)\n", + " \n", + " \n", + " A Focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by impaired awareness at some point during the seizure.\n", + " definition of HP:0032772 (Focal impaired awareness autonomic seizure with piloerection)\n", + " \n", + " \n", + " Abnormality of the epiphyses of the middle phalanges of the hand\n", + " definition of HP:0010244 (Abnormality of the epiphyses of the middle phalanges of the hand)\n", + " \n", + " \n", + " #Abnormality of the end part of the middle hand bones\n", + " definition of HP:0010244 (Abnormality of the epiphyses of the middle phalanges of the hand)\n", + " \n", + " \n", + " Reduced brain glutamate level by MRS\n", + " definition of HP:0031161 (Reduced brain glutamate level by MRS)\n", + " \n", + " \n", + " An decrease in the level of glutamate (Glu) in the brain identified by magnetic resonance spectroscopy (MRS).\n", + " definition of HP:0031161 (Reduced brain glutamate level by MRS)\n", + " \n", + " \n", + " Abnormality of palatoglossus muscle\n", + " definition of HP:3000011 (Abnormality of palatoglossus muscle)\n", + " \n", + " \n", + " An abnormality of a palatoglossus muscle.\n", + " definition of HP:3000011 (Abnormality of palatoglossus muscle)\n", + " \n", + " \n", + " Abnormal ureter physiology\n", + " definition of HP:0025634 (Abnormal ureter physiology)\n", + " \n", + " \n", + " A functional abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.\n", + " definition of HP:0025634 (Abnormal ureter physiology)\n", + " \n", + " \n", + " Mongolian blue spot\n", + " definition of HP:0011369 (Mongolian blue spot)\n", + " \n", + " \n", + " Congenital deep dermal melanosis in the sacral area.\n", + " definition of HP:0011369 (Mongolian blue spot)\n", + " \n", + " \n", + " Hypoventilation\n", + " definition of HP:0002791 (Hypoventilation)\n", + " \n", + " \n", + " A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide).\n", + " definition of HP:0002791 (Hypoventilation)\n", + " \n", + " \n", + " #Alveolar hypoventilation #Slow breathing #Under breathing\n", + " definition of HP:0002791 (Hypoventilation)\n", + " \n", + " \n", + " Decreased urinary 3-methylhistidine\n", + " definition of HP:0410318 (Decreased urinary 3-methylhistidine)\n", + " \n", + " \n", + " Decreased concentration of 3-methylhistidine in the urine.\n", + " definition of HP:0410318 (Decreased urinary 3-methylhistidine)\n", + " \n", + " \n", + " Anomalous origin of right pulmonary artery from ascending aorta\n", + " definition of HP:0005143 (Anomalous origin of right pulmonary artery from ascending aorta)\n", + " \n", + " \n", + " The right pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery.\n", + " definition of HP:0005143 (Anomalous origin of right pulmonary artery from ascending aorta)\n", + " \n", + " \n", + " Decreased urine guanidinoacetic acid level\n", + " definition of HP:0034888 (Decreased urine guanidinoacetic acid level)\n", + " \n", + " \n", + " The concentration of guanidinoacetic acid in the urine, normalized for urine concentration, is below the lower limit of normal.\n", + " definition of HP:0034888 (Decreased urine guanidinoacetic acid level)\n", + " \n", + " \n", + " Focal impaired awareness atonic seizure\n", + " definition of HP:0032728 (Focal impaired awareness atonic seizure)\n", + " \n", + " \n", + " A focal atonic seizure in which awareness is partially or fully impaired at some point during the seizure.\n", + " definition of HP:0032728 (Focal impaired awareness atonic seizure)\n", + " \n", + " \n", + " Extension of eyebrows towards upper eyelid\n", + " definition of HP:0010731 (Extension of eyebrows towards upper eyelid)\n", + " \n", + " \n", + " The eyebrows extend towards - or even all the way down to - the margin of the upper eyelid.\n", + " definition of HP:0010731 (Extension of eyebrows towards upper eyelid)\n", + " \n", + " \n", + " #Extension of eyebrows towards upper eyelid\n", + " definition of HP:0010731 (Extension of eyebrows towards upper eyelid)\n", + " \n", + " \n", + " Abnormal CSF amyloid concentration\n", + " definition of HP:0030860 (Abnormal CSF amyloid concentration)\n", + " \n", + " \n", + " Abnormal concentration of amyloid in the cerebrospinal fluid (CSF).\n", + " definition of HP:0030860 (Abnormal CSF amyloid concentration)\n", + " \n", + " \n", + " #Abnormal CSF A[beta]42 level #Abnormal CSF amyloid level\n", + " definition of HP:0030860 (Abnormal CSF amyloid concentration)\n", + " \n", + " \n", + " Elevated circulating 3-hydroxyanthranilic acid concentration\n", + " definition of HP:6000703 (Elevated circulating 3-hydroxyanthranilic acid concentration)\n", + " \n", + " \n", + " The concentration of 3-hydroxyanthranilic acid in the blood circulation is above the upper limit of normal.\n", + " definition of HP:6000703 (Elevated circulating 3-hydroxyanthranilic acid concentration)\n", + " \n", + " \n", + " Sparse bone trabeculae\n", + " definition of HP:0002752 (Sparse bone trabeculae)\n", + " \n", + " \n", + " Autoamputation\n", + " definition of HP:0001218 (Autoamputation)\n", + " \n", + " \n", + " Auto-amputation is the spontaneous detachment of an appendage from the body due to long standing pathology.\n", + " definition of HP:0001218 (Autoamputation)\n", + " \n", + " \n", + " Elevated circulating apolipoprotein C-III concentration\n", + " definition of HP:0033112 (Elevated circulating apolipoprotein C-III concentration)\n", + " \n", + " \n", + " An increased concentration in blood of apolipoprotein C-III, a protein component of triglyceride (TG)-rich lipoproteins (TRLs) including very low density lipoproteins (VLDL), high density lipoproteins (HDL) and chylomicrons.\n", + " definition of HP:0033112 (Elevated circulating apolipoprotein C-III concentration)\n", + " \n", + " \n", + " #Elevated APOC3 level #Elevated apolipoprotein C-III level\n", + " definition of HP:0033112 (Elevated circulating apolipoprotein C-III concentration)\n", + " \n", + " \n", + " Abnormal serum bile acid concentration\n", + " definition of HP:0030984 (Abnormal serum bile acid concentration)\n", + " \n", + " \n", + " A deviation from the normal concentration of serum bile acid concentration.\n", + " definition of HP:0030984 (Abnormal serum bile acid concentration)\n", + " \n", + " \n", + " Short chordae tendineae of the mitral valve\n", + " definition of HP:0011580 (Short chordae tendineae of the mitral valve)\n", + " \n", + " \n", + " Abnormally short chordae tendineae of the mitral valve.\n", + " definition of HP:0011580 (Short chordae tendineae of the mitral valve)\n", + " \n", + " \n", + " Polyphagia\n", + " definition of HP:0002591 (Polyphagia)\n", + " \n", + " \n", + " A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat.\n", + " definition of HP:0002591 (Polyphagia)\n", + " \n", + " \n", + " #Hyperphagia #Voracious appetite\n", + " definition of HP:0002591 (Polyphagia)\n", + " \n", + " \n", + " History of congenital HPV infection\n", + " definition of HP:4000011 (History of congenital HPV infection)\n", + " \n", + " \n", + " A congenital human papillomavirus (HPV) infection of the newborn. Congential HPV infection can manifest as condyloma cuminata in the newborn.\n", + " definition of HP:4000011 (History of congenital HPV infection)\n", + " \n", + " \n", + " Posterior fusion of lumbosacral vertebrae\n", + " definition of HP:0005626 (Posterior fusion of lumbosacral vertebrae)\n", + " \n", + " \n", + " Bony fusion of the posterior part of the L5 vertebral body with the sacrum.\n", + " definition of HP:0005626 (Posterior fusion of lumbosacral vertebrae)\n", + " \n", + " \n", + " Cutaneous granuloma\n", + " definition of HP:6000070 (Cutaneous granuloma)\n", + " \n", + " \n", + " A granuloma localized to the skin, that is, a chronic inflammatory manifestation with localized aggregation of histiocytes with or without other inflammatory cells (such as plasma cells, eosinophils, or neutrophils), with or without necrosis, with or without vasculitis, with or without calcification, and with or without foreign bodies. Granulomas may be due to infection or chronic inflammatory disease or reactions to foreign material.\n", + " definition of HP:6000070 (Cutaneous granuloma)\n", + " \n", + " \n", + " Fused sternal ossification centers\n", + " definition of HP:0006643 (Fused sternal ossification centers)\n", + " \n", + " \n", + " #Fused sternal ossification centres\n", + " definition of HP:0006643 (Fused sternal ossification centers)\n", + " \n", + " \n", + " Punctate palmoplantar hyperkeratosis\n", + " definition of HP:0007530 (Punctate palmoplantar hyperkeratosis)\n", + " \n", + " \n", + " Cutaneous abscess\n", + " definition of HP:0031292 (Cutaneous abscess)\n", + " \n", + " \n", + " A circumscribed area of pus or necrotic debris in the skin.\n", + " definition of HP:0031292 (Cutaneous abscess)\n", + " \n", + " \n", + " #Skin abscess\n", + " definition of HP:0031292 (Cutaneous abscess)\n", + " \n", + " \n", + " Hypoganglionosis\n", + " definition of HP:0025150 (Hypoganglionosis)\n", + " \n", + " \n", + " Sparse and small myenteric ganglia\n", + " definition of HP:0025150 (Hypoganglionosis)\n", + " \n", + " \n", + " Endosteal scalloping\n", + " definition of HP:0034969 (Endosteal scalloping)\n", + " \n", + " \n", + " A series of indentations or erosions on a normally smooth margin of the inner layer of the cortex (i.e. the endosteum) of bones.\n", + " definition of HP:0034969 (Endosteal scalloping)\n", + " \n", + " \n", + " Abnormal female reproductive system physiology\n", + " definition of HP:0030012 (Abnormal female reproductive system physiology)\n", + " \n", + " \n", + " #Abnormal female reproductive system physiology\n", + " definition of HP:0030012 (Abnormal female reproductive system physiology)\n", + " \n", + " \n", + " Abnormal circulating protein concentration\n", + " definition of HP:0010876 (Abnormal circulating protein concentration)\n", + " \n", + " \n", + " An abnormal level of a circulating protein in the blood.\n", + " definition of HP:0010876 (Abnormal circulating protein concentration)\n", + " \n", + " \n", + " #Abnormal circulating protein level #Abnormality of circulating protein level\n", + " definition of HP:0010876 (Abnormal circulating protein concentration)\n", + " \n", + " \n", + " Hooded eyelid\n", + " definition of HP:0030820 (Hooded eyelid)\n", + " \n", + " \n", + " Eyelid partly covered by skin when eyes are open.\n", + " definition of HP:0030820 (Hooded eyelid)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the tarsal bones\n", + " definition of HP:0008363 (Aplasia/Hypoplasia of the tarsal bones)\n", + " \n", + " \n", + " Absence or underdevelopment of the tarsal bones.\n", + " definition of HP:0008363 (Aplasia/Hypoplasia of the tarsal bones)\n", + " \n", + " \n", + " #Absent/small ankle bone #Absent/underdeveloped ankle bone #Aplastic/hypoplastic tarsals\n", + " definition of HP:0008363 (Aplasia/Hypoplasia of the tarsal bones)\n", + " \n", + " \n", + " Erythroid hypoplasia\n", + " definition of HP:0012133 (Erythroid hypoplasia)\n", + " \n", + " \n", + " Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.\n", + " definition of HP:0012133 (Erythroid hypoplasia)\n", + " \n", + " \n", + " #Erythroblastopenia\n", + " definition of HP:0012133 (Erythroid hypoplasia)\n", + " \n", + " \n", + " Addictive sedative use\n", + " definition of HP:5200331 (Addictive sedative use)\n", + " \n", + " \n", + " Misuse and/or abuse of sedative drugs.\n", + " definition of HP:5200331 (Addictive sedative use)\n", + " \n", + " \n", + " #Sedative addiction\n", + " definition of HP:5200331 (Addictive sedative use)\n", + " \n", + " \n", + " Aplasia of the proximal phalanx of the hallux\n", + " definition of HP:0010106 (Aplasia of the proximal phalanx of the hallux)\n", + " \n", + " \n", + " #Absent innermost bone of big toe\n", + " definition of HP:0010106 (Aplasia of the proximal phalanx of the hallux)\n", + " \n", + " \n", + " Talocalcaneal synostosis\n", + " definition of HP:0005682 (Talocalcaneal synostosis)\n", + " \n", + " \n", + " #Fusion of the subtalar joint\n", + " definition of HP:0005682 (Talocalcaneal synostosis)\n", + " \n", + " \n", + " Chest pain\n", + " definition of HP:0100749 (Chest pain)\n", + " \n", + " \n", + " An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest.\n", + " definition of HP:0100749 (Chest pain)\n", + " \n", + " \n", + " #Chest pain #Thoracic pain\n", + " definition of HP:0100749 (Chest pain)\n", + " \n", + " \n", + " Anti-GQ1b IgG antibody positivity\n", + " definition of HP:0034127 (Anti-GQ1b IgG antibody positivity)\n", + " \n", + " \n", + " The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside Q1b.\n", + " definition of HP:0034127 (Anti-GQ1b IgG antibody positivity)\n", + " \n", + " \n", + " Intellectual disability, mild\n", + " definition of HP:0001256 (Intellectual disability, mild)\n", + " \n", + " \n", + " Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.\n", + " definition of HP:0001256 (Intellectual disability, mild)\n", + " \n", + " \n", + " #Intellectual disability, mild #Mental retardation, borderline-mild #Mild and nonprogressive mental retardation #Mild mental retardation\n", + " definition of HP:0001256 (Intellectual disability, mild)\n", + " \n", + " \n", + " Social anxiety\n", + " definition of HP:6000029 (Social anxiety)\n", + " \n", + " \n", + " Excessive fear of embarrassment, humiliation, or rejection when exposed to possible negative evaluation by others when engaged in a public performance or social interaction.\n", + " definition of HP:6000029 (Social anxiety)\n", + " \n", + " \n", + " Cerebral arteriovenous malformation\n", + " definition of HP:0002408 (Cerebral arteriovenous malformation)\n", + " \n", + " \n", + " An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the brain.\n", + " definition of HP:0002408 (Cerebral arteriovenous malformation)\n", + " \n", + " \n", + " #Cerebral AV malformation\n", + " definition of HP:0002408 (Cerebral arteriovenous malformation)\n", + " \n", + " \n", + " Hypsarrhythmia\n", + " definition of HP:0002521 (Hypsarrhythmia)\n", + " \n", + " \n", + " Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG).\n", + " definition of HP:0002521 (Hypsarrhythmia)\n", + " \n", + " \n", + " #Hypsarrhythmia by EEG\n", + " definition of HP:0002521 (Hypsarrhythmia)\n", + " \n", + " \n", + " Thin spermatozoon midpiece\n", + " definition of HP:0035007 (Thin spermatozoon midpiece)\n", + " \n", + " \n", + " The cross-sectional size (diameter) of the midpiece of the spermatozoon is below the lower limit of normal. This term applies if the proportion of spermatozoa with this defect is above the upper limit of normal.\n", + " definition of HP:0035007 (Thin spermatozoon midpiece)\n", + " \n", + " \n", + " Tongue-like lumbar vertebral deformities\n", + " definition of HP:0005680 (Tongue-like lumbar vertebral deformities)\n", + " \n", + " \n", + " A tongue-like protusion from the anterior aspect of lumbar vertebral bodies.\n", + " definition of HP:0005680 (Tongue-like lumbar vertebral deformities)\n", + " \n", + " \n", + " Bruxism during sleep\n", + " definition of HP:5200284 (Bruxism during sleep)\n", + " \n", + " \n", + " Bruxism is a condition in which you grind, gnash, or clench your teeth while asleep.\n", + " definition of HP:5200284 (Bruxism during sleep)\n", + " \n", + " \n", + " #Grinding teeth during sleep\n", + " definition of HP:5200284 (Bruxism during sleep)\n", + " \n", + " \n", + " Dynein arm defect of respiratory motile cilia\n", + " definition of HP:0012255 (Dynein arm defect of respiratory motile cilia)\n", + " \n", + " \n", + " An anomaly of the dynein arms of motile cilia. This feature is usually appreciated by electron microscopy.\n", + " definition of HP:0012255 (Dynein arm defect of respiratory motile cilia)\n", + " \n", + " \n", + " Transverse terminal upper limb defect\n", + " definition of HP:6000918 (Transverse terminal upper limb defect)\n", + " \n", + " \n", + " A congenital anomaly that appears as an amputation at different levels of the arm, e.g. humerus, proximal forearm, wrist or finger. The limb is missing the terminal (distal) segment(s), with preservation of all the segment(s) proximal to the missing segment.\n", + " definition of HP:6000918 (Transverse terminal upper limb defect)\n", + " \n", + " \n", + " #Transverse terminal upper limb reduction\n", + " definition of HP:6000918 (Transverse terminal upper limb defect)\n", + " \n", + " \n", + " Aplasia involving bones of the lower limbs\n", + " definition of HP:0009817 (Aplasia involving bones of the lower limbs)\n", + " \n", + " \n", + " #Absent bones of the lower limbs\n", + " definition of HP:0009817 (Aplasia involving bones of the lower limbs)\n", + " \n", + " \n", + " Generalized edema\n", + " definition of HP:0007430 (Generalized edema)\n", + " \n", + " \n", + " Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.\n", + " definition of HP:0007430 (Generalized edema)\n", + " \n", + " \n", + " #Generalised oedema #Generalised tissue oedema #Generalized tissue edema\n", + " definition of HP:0007430 (Generalized edema)\n", + " \n", + " \n", + " Esophageal food impaction\n", + " definition of HP:0031984 (Esophageal food impaction)\n", + " \n", + " \n", + " A piece of food that has gotten stuck in the esophagus and prevents further swallowing.\n", + " definition of HP:0031984 (Esophageal food impaction)\n", + " \n", + " \n", + " Hyperphoria\n", + " definition of HP:0025585 (Hyperphoria)\n", + " \n", + " \n", + " Tendency for the visual axis of one eye to be higher than that of the other.\n", + " definition of HP:0025585 (Hyperphoria)\n", + " \n", + " \n", + " Reduced circulating squalene concentration\n", + " definition of HP:6000440 (Reduced circulating squalene concentration)\n", + " \n", + " \n", + " The concentration of squalene in the blood circulation is below the lower limit of normal.\n", + " definition of HP:6000440 (Reduced circulating squalene concentration)\n", + " \n", + " \n", + " Severe lactic acidosis\n", + " definition of HP:0004900 (Severe lactic acidosis)\n", + " \n", + " \n", + " A severe form of lactic acidemia.\n", + " definition of HP:0004900 (Severe lactic acidosis)\n", + " \n", + " \n", + " Temporomandibular joint adhesion\n", + " definition of HP:0032328 (Temporomandibular joint adhesion)\n", + " \n", + " \n", + " Formation of one or more fibrous bands within the temporomandibular joint (TMJ) with resulting limitation of movement of the TMJ. Adhesions may be seen in degenerative processes that involve the TMJ.\n", + " definition of HP:0032328 (Temporomandibular joint adhesion)\n", + " \n", + " \n", + " Eosinophilic neuronal inclusion bodies\n", + " definition of HP:6001062 (Eosinophilic neuronal inclusion bodies)\n", + " \n", + " \n", + " The presence of intracellular inclusion bodies (aggregates of stainable substances, usually proteins) in neurons that stain with eosin, a red or pink dye.\n", + " definition of HP:6001062 (Eosinophilic neuronal inclusion bodies)\n", + " \n", + " \n", + " Hypoplasia of the ovary\n", + " definition of HP:0008724 (Hypoplasia of the ovary)\n", + " \n", + " \n", + " Developmental hypoplasia of the ovary.\n", + " definition of HP:0008724 (Hypoplasia of the ovary)\n", + " \n", + " \n", + " #Hypoplastic ovary #Underdeveloped ovary\n", + " definition of HP:0008724 (Hypoplasia of the ovary)\n", + " \n", + " \n", + " Anal margin squamous cell carcinoma\n", + " definition of HP:0030442 (Anal margin squamous cell carcinoma)\n", + " \n", + " \n", + " A squamous cell carcinoma that originates in the skin of the anal margin.\n", + " definition of HP:0030442 (Anal margin squamous cell carcinoma)\n", + " \n", + " \n", + " Absent atrioventricular node\n", + " definition of HP:0006681 (Absent atrioventricular node)\n", + " \n", + " \n", + " Abnormal CSF lysine concentration\n", + " definition of HP:0500206 (Abnormal CSF lysine concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of lysine in the cerebrospinal fluid.\n", + " definition of HP:0500206 (Abnormal CSF lysine concentration)\n", + " \n", + " \n", + " #Abnormal lysine levels in cerebrospinal fluid\n", + " definition of HP:0500206 (Abnormal CSF lysine concentration)\n", + " \n", + " \n", + " Small for gestational age\n", + " definition of HP:0001518 (Small for gestational age)\n", + " \n", + " \n", + " Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.\n", + " definition of HP:0001518 (Small for gestational age)\n", + " \n", + " \n", + " #Birth weight less than 10th percentile #Low birth weight #Small for gestational age\n", + " definition of HP:0001518 (Small for gestational age)\n", + " \n", + " \n", + " Positive bloodstream VDRL test\n", + " definition of HP:6000796 (Positive bloodstream VDRL test)\n", + " \n", + " \n", + " An abnormal (positive) result of the Venereal Disease Research Laboratory (VDRL) test performed in peripheral blood, suggesting past or present syphilis.\n", + " definition of HP:6000796 (Positive bloodstream VDRL test)\n", + " \n", + " \n", + " #VDRL positive in blood #VDRL reactive in blood circulation\n", + " definition of HP:6000796 (Positive bloodstream VDRL test)\n", + " \n", + " \n", + " Neonatal electro-clinical seizure\n", + " definition of HP:0032809 (Neonatal electro-clinical seizure)\n", + " \n", + " \n", + " Neonatal electro-clinical seizure is an electrographic event occurring in neonatal period and coupled with a clinical manifestation.\n", + " definition of HP:0032809 (Neonatal electro-clinical seizure)\n", + " \n", + " \n", + " Flattened knee epiphyses\n", + " definition of HP:0005715 (Flattened knee epiphyses)\n", + " \n", + " \n", + " #Flattened end part of knee bone\n", + " definition of HP:0005715 (Flattened knee epiphyses)\n", + " \n", + " \n", + " Elevated CSF glial fibrillary acidic protein concentration\n", + " definition of HP:0032650 (Elevated CSF glial fibrillary acidic protein concentration)\n", + " \n", + " \n", + " Increased concentration of glial fibrillary acidic protein in cerebrospinal fluid.\n", + " definition of HP:0032650 (Elevated CSF glial fibrillary acidic protein concentration)\n", + " \n", + " \n", + " #Elevated CSF glial fibrillary acidic protein level\n", + " definition of HP:0032650 (Elevated CSF glial fibrillary acidic protein concentration)\n", + " \n", + " \n", + " Absent epiphysis of the proximal phalanx of the thumb\n", + " definition of HP:0009664 (Absent epiphysis of the proximal phalanx of the thumb)\n", + " \n", + " \n", + " Absence of the epiphysis located at the proximal end of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.\n", + " definition of HP:0009664 (Absent epiphysis of the proximal phalanx of the thumb)\n", + " \n", + " \n", + " #Absent end part of thumb innermost long bone\n", + " definition of HP:0009664 (Absent epiphysis of the proximal phalanx of the thumb)\n", + " \n", + " \n", + " Elevated urinary butyric acid level\n", + " definition of HP:6000433 (Elevated urinary butyric acid level)\n", + " \n", + " \n", + " The amount of butyric acid in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000433 (Elevated urinary butyric acid level)\n", + " \n", + " \n", + " Malformation of mandibular premolar\n", + " definition of HP:0006338 (Malformation of mandibular premolar)\n", + " \n", + " \n", + " An abnormality of the morphology of secondary premolar tooth.\n", + " definition of HP:0006338 (Malformation of mandibular premolar)\n", + " \n", + " \n", + " #Malformation of lower premolar #Malformation of mandibular bicuspid\n", + " definition of HP:0006338 (Malformation of mandibular premolar)\n", + " \n", + " \n", + " Monorchism\n", + " definition of HP:0030868 (Monorchism)\n", + " \n", + " \n", + " Having only one testis in the scrotum.\n", + " definition of HP:0030868 (Monorchism)\n", + " \n", + " \n", + " #Monorchidism\n", + " definition of HP:0030868 (Monorchism)\n", + " \n", + " \n", + " Inflammatory abnormality of the eye\n", + " definition of HP:0100533 (Inflammatory abnormality of the eye)\n", + " \n", + " \n", + " Inflammation of the eye, parts of the eye or the periorbital region.\n", + " definition of HP:0100533 (Inflammatory abnormality of the eye)\n", + " \n", + " \n", + " #Inflammatory abnormality of the eye #Ocular inflammation\n", + " definition of HP:0100533 (Inflammatory abnormality of the eye)\n", + " \n", + " \n", + " Fibular hypoplasia\n", + " definition of HP:0003038 (Fibular hypoplasia)\n", + " \n", + " \n", + " Underdevelopment of the fibula.\n", + " definition of HP:0003038 (Fibular hypoplasia)\n", + " \n", + " \n", + " #Hypoplastic fibula #Short calf bone #Short fibula #Short fibulae\n", + " definition of HP:0003038 (Fibular hypoplasia)\n", + " \n", + " \n", + " Short distal phalanx of toe\n", + " definition of HP:0001857 (Short distal phalanx of toe)\n", + " \n", + " \n", + " Short distance from the end of the toe to the most distal interphalangeal crease or distal interphalangeal joint flexion point, i.e., abnormally short distal phalanx of toe.\n", + " definition of HP:0001857 (Short distal phalanx of toe)\n", + " \n", + " \n", + " #Hypoplastic distal phalanges of feet #Short outermost bone of toe\n", + " definition of HP:0001857 (Short distal phalanx of toe)\n", + " \n", + " \n", + " Thickened ears\n", + " definition of HP:0009894 (Thickened ears)\n", + " \n", + " \n", + " Increased thickness of the external ear.\n", + " definition of HP:0009894 (Thickened ears)\n", + " \n", + " \n", + " #Thickened ears\n", + " definition of HP:0009894 (Thickened ears)\n", + " \n", + " \n", + " Euryblepharon\n", + " definition of HP:0012905 (Euryblepharon)\n", + " \n", + " \n", + " Euryblepharon is a congenital eyelid anomaly characterized by horizontal enlargement of the palpebral fissure. The eyelid is shortened vertically compared with the horizontal dimension, with associated lateral canthal malpositioning and lateral ectropion abnormally wide lid opening.\n", + " definition of HP:0012905 (Euryblepharon)\n", + " \n", + " \n", + " Gastric pseudomass\n", + " definition of HP:0034244 (Gastric pseudomass)\n", + " \n", + " \n", + " At US examination from the second trimester onward, the fetal stomach appears as a uniformly anechoic, sharply circumscribed round structure in the left upper quadrant. However, debris is commonly visualized in the stomach, forming a pseudomass.\n", + " definition of HP:0034244 (Gastric pseudomass)\n", + " \n", + " \n", + " Incomplete ossification of palatine bone\n", + " definition of HP:0430012 (Incomplete ossification of palatine bone)\n", + " \n", + " \n", + " Failure to complete ossification (maturation and calcification) of the palatine bone.\n", + " definition of HP:0430012 (Incomplete ossification of palatine bone)\n", + " \n", + " \n", + " Small epiphyses of the 3rd toe\n", + " definition of HP:0100063 (Small epiphyses of the 3rd toe)\n", + " \n", + " \n", + " #Small end part of the 3rd toe bone\n", + " definition of HP:0100063 (Small epiphyses of the 3rd toe)\n", + " \n", + " \n", + " Cone-shaped epiphysis of the middle phalanx of the 2nd finger\n", + " definition of HP:0009515 (Cone-shaped epiphysis of the middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Cone-shaped end part of the middle long bone of the index finger #Cone-shaped epiphyses of middle phalanx of index finger\n", + " definition of HP:0009515 (Cone-shaped epiphysis of the middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " Atrioventricular valve regurgitation\n", + " definition of HP:0034376 (Atrioventricular valve regurgitation)\n", + " \n", + " \n", + " Regurgitation of a heart valve that controls blood flow from a an atrium to a ventricle, including mitral, tricuspid, or, rarely, single atrioventicular valve.\n", + " definition of HP:0034376 (Atrioventricular valve regurgitation)\n", + " \n", + " \n", + " Tip-toe gait\n", + " definition of HP:0030051 (Tip-toe gait)\n", + " \n", + " \n", + " An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait.\n", + " definition of HP:0030051 (Tip-toe gait)\n", + " \n", + " \n", + " #Tiptoe gait #Toe walking #Walking on tiptoes\n", + " definition of HP:0030051 (Tip-toe gait)\n", + " \n", + " \n", + " Hypomethioninemia\n", + " definition of HP:0003658 (Hypomethioninemia)\n", + " \n", + " \n", + " A decreased concentration of methionine in the blood.\n", + " definition of HP:0003658 (Hypomethioninemia)\n", + " \n", + " \n", + " #Decreased plasma methionine #Decreased serum methionine\n", + " definition of HP:0003658 (Hypomethioninemia)\n", + " \n", + " \n", + " Absent left main coronary artery\n", + " definition of HP:0031639 (Absent left main coronary artery)\n", + " \n", + " \n", + " The left main coronary artery (LMCA) is absent and the left anterior descending (LAD) and left circumflex (LCX) arteries arise from separate but adjacent ostia in the left sinus of Valsava.\n", + " definition of HP:0031639 (Absent left main coronary artery)\n", + " \n", + " \n", + " #Absent LMCA\n", + " definition of HP:0031639 (Absent left main coronary artery)\n", + " \n", + " \n", + " Ameliorated by dantrolene\n", + " definition of HP:0034539 (Ameliorated by dantrolene)\n", + " \n", + " \n", + " Applies to a sign or symptom that is improved or made more bearable by treatment with dantrolene.\n", + " definition of HP:0034539 (Ameliorated by dantrolene)\n", + " \n", + " \n", + " #Dantrolene reduces symptoms\n", + " definition of HP:0034539 (Ameliorated by dantrolene)\n", + " \n", + " \n", + " Abnormal rib cage morphology\n", + " definition of HP:0001547 (Abnormal rib cage morphology)\n", + " \n", + " \n", + " A morphological anomaly of the rib cage.\n", + " definition of HP:0001547 (Abnormal rib cage morphology)\n", + " \n", + " \n", + " #Abnormality of the rib cage\n", + " definition of HP:0001547 (Abnormal rib cage morphology)\n", + " \n", + " \n", + " Retinal astrocytic hamartoma\n", + " definition of HP:0012778 (Retinal astrocytic hamartoma)\n", + " \n", + " \n", + " A glial tumor of the retinal nerve fiber layer arising from a retinal astrocyte.\n", + " definition of HP:0012778 (Retinal astrocytic hamartoma)\n", + " \n", + " \n", + " Perimenopausal onset\n", + " definition of HP:6000314 (Perimenopausal onset)\n", + " \n", + " \n", + " Onset of signs or symptoms of disease during the period of a woman's life shortly before the occurrence of the menopause.\n", + " definition of HP:6000314 (Perimenopausal onset)\n", + " \n", + " \n", + " Triangular epiphysis of the distal phalanx of the 4th toe\n", + " definition of HP:0100179 (Triangular epiphysis of the distal phalanx of the 4th toe)\n", + " \n", + " \n", + " #Triangular end part of the outermost bone of the 4th toe\n", + " definition of HP:0100179 (Triangular epiphysis of the distal phalanx of the 4th toe)\n", + " \n", + " \n", + " Anti-chikungunya virus antibody positivity\n", + " definition of HP:0430056 (Anti-chikungunya virus antibody positivity)\n", + " \n", + " \n", + " The presence of antibodies in the blood circulation that react against a component of chikungunya virus.\n", + " definition of HP:0430056 (Anti-chikungunya virus antibody positivity)\n", + " \n", + " \n", + " Distal ulnar hypoplasia\n", + " definition of HP:0005033 (Distal ulnar hypoplasia)\n", + " \n", + " \n", + " Underdevelopment of the distal portion of the ulna.\n", + " definition of HP:0005033 (Distal ulnar hypoplasia)\n", + " \n", + " \n", + " #Distal shortening of ulna #Hypoplastic distal ulna\n", + " definition of HP:0005033 (Distal ulnar hypoplasia)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the eyelid\n", + " definition of HP:0011226 (Aplasia/Hypoplasia of the eyelid)\n", + " \n", + " \n", + " Absence or underdevelopment of the eyelid.\n", + " definition of HP:0011226 (Aplasia/Hypoplasia of the eyelid)\n", + " \n", + " \n", + " #Failure of development of eyelid #Hypotrophic eyelid\n", + " definition of HP:0011226 (Aplasia/Hypoplasia of the eyelid)\n", + " \n", + " \n", + " Epidermoid cyst\n", + " definition of HP:0200040 (Epidermoid cyst)\n", + " \n", + " \n", + " Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Epidermal cysts are intradermal or subcutaneous tumors, grow slowly and occur on the face, neck, back and scrotum. They usually appear at or around puberty, and as a rule an affected individual has one solitary or a few cysts.\n", + " definition of HP:0200040 (Epidermoid cyst)\n", + " \n", + " \n", + " #Epidermal cyst #Epidermal inclusion cyst #Infundibular cyst #Keratin cyst #Skin cyst\n", + " definition of HP:0200040 (Epidermoid cyst)\n", + " \n", + " \n", + " Congenital contracture\n", + " definition of HP:0002803 (Congenital contracture)\n", + " \n", + " \n", + " One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth.\n", + " definition of HP:0002803 (Congenital contracture)\n", + " \n", + " \n", + " #congenital contractures #Congenital joint contractures\n", + " definition of HP:0002803 (Congenital contracture)\n", + " \n", + " \n", + " Papulovesicular eruption\n", + " definition of HP:0033700 (Papulovesicular eruption)\n", + " \n", + " \n", + " An acute onset rash characterized by by multiple vesicles, which are circumscribed, fluid-containing, epidermal elevations with a diameter less than 10mm at the widest point, and by multiple papules, which are circumscribed, solid epidermal elevations with no visible fluid with a diameter less than 10mm at the widest point.\n", + " definition of HP:0033700 (Papulovesicular eruption)\n", + " \n", + " \n", + " #Papulo-vesicular eruption\n", + " definition of HP:0033700 (Papulovesicular eruption)\n", + " \n", + " \n", + " Quadricuspid aortic valve\n", + " definition of HP:0031655 (Quadricuspid aortic valve)\n", + " \n", + " \n", + " The presence of an aortic valve with four instead of the normal three cusps (flaps).\n", + " definition of HP:0031655 (Quadricuspid aortic valve)\n", + " \n", + " \n", + " Social disinhibition\n", + " definition of HP:5200029 (Social disinhibition)\n", + " \n", + " \n", + " A tendency to violate social norms because of a failure to resist temptations or urges in social settings.\n", + " definition of HP:5200029 (Social disinhibition)\n", + " \n", + " \n", + " Anterior tibial bowing\n", + " definition of HP:0006390 (Anterior tibial bowing)\n", + " \n", + " \n", + " An abnormal anterior bending or curvature of the tibia.\n", + " definition of HP:0006390 (Anterior tibial bowing)\n", + " \n", + " \n", + " #Anterior bowing of tibia #Saber shin #Saber tibia #Sabre shin\n", + " definition of HP:0006390 (Anterior tibial bowing)\n", + " \n", + " \n", + " Three rows of eyelashes\n", + " definition of HP:0008009 (Three rows of eyelashes)\n", + " \n", + " \n", + " #Three rows of eyelashes #Triple row of eyelashes\n", + " definition of HP:0008009 (Three rows of eyelashes)\n", + " \n", + " \n", + " Foveal hyporeflective spaces on macular OCT\n", + " definition of HP:0030627 (Foveal hyporeflective spaces on macular OCT)\n", + " \n", + " \n", + " Abnormal CSF aspartate concentration\n", + " definition of HP:0500216 (Abnormal CSF aspartate concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of aspartic acid in the cerebrospinal fluid.\n", + " definition of HP:0500216 (Abnormal CSF aspartate concentration)\n", + " \n", + " \n", + " #Abnormal aspartic acid levels in cerebrospinal fluid #Abnormal CSF aspartic acid concentration\n", + " definition of HP:0500216 (Abnormal CSF aspartate concentration)\n", + " \n", + " \n", + " Epicanthus\n", + " definition of HP:0000286 (Epicanthus)\n", + " \n", + " \n", + " A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.\n", + " definition of HP:0000286 (Epicanthus)\n", + " \n", + " \n", + " #Epicanthal fold #Epicanthal folds #Epicanthic folds #Eye folds #Palpebronasal fold #Plica palpebronasalis #Prominent eye folds\n", + " definition of HP:0000286 (Epicanthus)\n", + " \n", + " \n", + " Urticaria\n", + " definition of HP:0001025 (Urticaria)\n", + " \n", + " \n", + " Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure.\n", + " definition of HP:0001025 (Urticaria)\n", + " \n", + " \n", + " #Hives\n", + " definition of HP:0001025 (Urticaria)\n", + " \n", + " \n", + " Hyperpepsinogenemia I\n", + " definition of HP:0003238 (Hyperpepsinogenemia I)\n", + " \n", + " \n", + " Abnormal isoelectric focusing of serum transferrin\n", + " definition of HP:0003160 (Abnormal isoelectric focusing of serum transferrin)\n", + " \n", + " \n", + " Glycosylated transferrin concentrations can be measured in serum as a marker of N-linked glycosylation fidelity. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II. These terms are retained for historical reasons but for new annotations the precise glycosylation defect should be recorded.\n", + " definition of HP:0003160 (Abnormal isoelectric focusing of serum transferrin)\n", + " \n", + " \n", + " #Abnormal isoelectric focusing of transferrin #Abnormal transferrin isoelectric focusing\n", + " definition of HP:0003160 (Abnormal isoelectric focusing of serum transferrin)\n", + " \n", + " \n", + " Fragmentation of the epiphyses of the phalanges of the hand\n", + " definition of HP:0010232 (Fragmentation of the epiphyses of the phalanges of the hand)\n", + " \n", + " \n", + " Fragmented appearance of the epiphyses of the phalanges of the fingers.\n", + " definition of HP:0010232 (Fragmentation of the epiphyses of the phalanges of the hand)\n", + " \n", + " \n", + " #Fragmentation of end part of finger bones #Fragmentation of the epiphyses of the fingers\n", + " definition of HP:0010232 (Fragmentation of the epiphyses of the phalanges of the hand)\n", + " \n", + " \n", + " Pretibial myxedema\n", + " definition of HP:0200028 (Pretibial myxedema)\n", + " \n", + " \n", + " A diffuse, non-pitting edema and thickening of the skin usually on the anterior aspect of the lower legs spreading to the dorsum of the feet.\n", + " definition of HP:0200028 (Pretibial myxedema)\n", + " \n", + " \n", + " #Graves dermopathy\n", + " definition of HP:0200028 (Pretibial myxedema)\n", + " \n", + " \n", + " Broad distal phalanx of the 4th finger\n", + " definition of HP:0009292 (Broad distal phalanx of the 4th finger)\n", + " \n", + " \n", + " Increased width of the distal phalanx of the 4th finger.\n", + " definition of HP:0009292 (Broad distal phalanx of the 4th finger)\n", + " \n", + " \n", + " #Broad outermost bone of ring finger #Wide outermost bone of ring finger\n", + " definition of HP:0009292 (Broad distal phalanx of the 4th finger)\n", + " \n", + " \n", + " Partial duplication of eyebrows\n", + " definition of HP:0045018 (Partial duplication of eyebrows)\n", + " \n", + " \n", + " #Partial double eyebrow #Partial duplication of eyebrows\n", + " definition of HP:0045018 (Partial duplication of eyebrows)\n", + " \n", + " \n", + " Lupus nephritis\n", + " definition of HP:0033726 (Lupus nephritis)\n", + " \n", + " \n", + " Lupus nephritis is a type of glomerulonephritis that constitutes one of the most severe organ manifestations of systemic lupus erythematosus. Lupus nephritis is subclassified in six distinct classes, that represent different manifestations and severities of renal involvement and guide the therapeutic management.\n", + " definition of HP:0033726 (Lupus nephritis)\n", + " \n", + " \n", + " Trigonocephaly\n", + " definition of HP:0000243 (Trigonocephaly)\n", + " \n", + " \n", + " Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput.\n", + " definition of HP:0000243 (Trigonocephaly)\n", + " \n", + " \n", + " #Triangular cranium shape #Triangular skull shape #Wedge shaped cranium #Wedge shaped skull\n", + " definition of HP:0000243 (Trigonocephaly)\n", + " \n", + " \n", + " Eye of the tiger anomaly of globus pallidus\n", + " definition of HP:0002454 (Eye of the tiger anomaly of globus pallidus)\n", + " \n", + " \n", + " The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity of the globus pallidus that surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance. The sign is thought to represent iron accumulation in the globus pallidus.\n", + " definition of HP:0002454 (Eye of the tiger anomaly of globus pallidus)\n", + " \n", + " \n", + " Hypohistidinemia\n", + " definition of HP:0500145 (Hypohistidinemia)\n", + " \n", + " \n", + " A decreased amount of histidine in the blood.\n", + " definition of HP:0500145 (Hypohistidinemia)\n", + " \n", + " \n", + " #Decreased blood histidine concentration #Low blood histidine levels\n", + " definition of HP:0500145 (Hypohistidinemia)\n", + " \n", + " \n", + " Hypoglycosylation of alpha-dystroglycan\n", + " definition of HP:0030046 (Hypoglycosylation of alpha-dystroglycan)\n", + " \n", + " \n", + " A reduction in the degree of glycosylation of alpha-dystroglycan in muscle tissue.\n", + " definition of HP:0030046 (Hypoglycosylation of alpha-dystroglycan)\n", + " \n", + " \n", + " Short proximal phalanx of hallux\n", + " definition of HP:0010107 (Short proximal phalanx of hallux)\n", + " \n", + " \n", + " Underdevelopment (hypoplasia) of the proximal phalanx of big toe.\n", + " definition of HP:0010107 (Short proximal phalanx of hallux)\n", + " \n", + " \n", + " #Hypoplastic proximal phalanx of the hallux #Short innermost big toe bone #Short proximal phalanges of halluces #Short proximal phalanx of halluces #Small proximal phalanx of big toe #Small proximal phalanx of hallux\n", + " definition of HP:0010107 (Short proximal phalanx of hallux)\n", + " \n", + " \n", + " Polyclonal elevation of IgM\n", + " definition of HP:0003459 (Polyclonal elevation of IgM)\n", + " \n", + " \n", + " A heterogeneous increase in IgM immunoglobulins characterized by a diffuse band on serum electrophoresis.\n", + " definition of HP:0003459 (Polyclonal elevation of IgM)\n", + " \n", + " \n", + " Abnormality of joint mobility\n", + " definition of HP:0011729 (Abnormality of joint mobility)\n", + " \n", + " \n", + " An abnormality in the range and ease of motion of joints across their normal range.\n", + " definition of HP:0011729 (Abnormality of joint mobility)\n", + " \n", + " \n", + " Elevated circulating tetracosanoic acid concentration\n", + " definition of HP:0034297 (Elevated circulating tetracosanoic acid concentration)\n", + " \n", + " \n", + " Elevated concentration of tetracosanoic acid (a C24 straight-chain saturated fatty acid) in the blood circulation.\n", + " definition of HP:0034297 (Elevated circulating tetracosanoic acid concentration)\n", + " \n", + " \n", + " Trichoschisis\n", + " definition of HP:0034354 (Trichoschisis)\n", + " \n", + " \n", + " Transverse fractures through the hair shafts (trichoschisis). Trichoschisis is characterized by a sharp transverse fracture of the hair shaft.\n", + " definition of HP:0034354 (Trichoschisis)\n", + " \n", + " \n", + " Focal motor seizure with version\n", + " definition of HP:0011175 (Focal motor seizure with version)\n", + " \n", + " \n", + " A type of focal motor seizure characterized by sustained, forced conjugate ocular, cephalic, and/or truncal rotation or lateral deviation from the midline as the initial semiological manifestation.\n", + " definition of HP:0011175 (Focal motor seizure with version)\n", + " \n", + " \n", + " #Versive seizure #Versive seizures\n", + " definition of HP:0011175 (Focal motor seizure with version)\n", + " \n", + " \n", + " Absent smooth pursuit\n", + " definition of HP:0007179 (Absent smooth pursuit)\n", + " \n", + " \n", + " A complete lack of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion.\n", + " definition of HP:0007179 (Absent smooth pursuit)\n", + " \n", + " \n", + " Obstipation\n", + " definition of HP:0034782 (Obstipation)\n", + " \n", + " \n", + " Obstipation is the inability to pass either stool or flatus (gas).\n", + " definition of HP:0034782 (Obstipation)\n", + " \n", + " \n", + " #Lack of flatulence #No gas passage\n", + " definition of HP:0034782 (Obstipation)\n", + " \n", + " \n", + " Truncal titubation\n", + " definition of HP:0030147 (Truncal titubation)\n", + " \n", + " \n", + " Tremor of the trunk in an anterior-posterior plane at 3-4 Hz.\n", + " definition of HP:0030147 (Truncal titubation)\n", + " \n", + " \n", + " Symphalangism affecting the distal phalanges of the toes\n", + " definition of HP:0010191 (Symphalangism affecting the distal phalanges of the toes)\n", + " \n", + " \n", + " #Fused outermost bones of toes\n", + " definition of HP:0010191 (Symphalangism affecting the distal phalanges of the toes)\n", + " \n", + " \n", + " Irregular thumb epiphysis\n", + " definition of HP:0009691 (Irregular thumb epiphysis)\n", + " \n", + " \n", + " Uneven radiographic opacity of the one or more epiphyses of the thumb.\n", + " definition of HP:0009691 (Irregular thumb epiphysis)\n", + " \n", + " \n", + " #Irregular end part of thumb long bone #Irregular epiphyses of the thumb\n", + " definition of HP:0009691 (Irregular thumb epiphysis)\n", + " \n", + " \n", + " Prominent stem of antihelix\n", + " definition of HP:0011240 (Prominent stem of antihelix)\n", + " \n", + " \n", + " Increased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of the helix.\n", + " definition of HP:0011240 (Prominent stem of antihelix)\n", + " \n", + " \n", + " #Hyperplastic antihelix stem #Hypertrophic antihelix stem\n", + " definition of HP:0011240 (Prominent stem of antihelix)\n", + " \n", + " \n", + " Sensorineural hearing impairment\n", + " definition of HP:0000407 (Sensorineural hearing impairment)\n", + " \n", + " \n", + " A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.\n", + " definition of HP:0000407 (Sensorineural hearing impairment)\n", + " \n", + " \n", + " #Hearing loss, sensorineural #Sensorineural deafness #Sensorineural hearing loss\n", + " definition of HP:0000407 (Sensorineural hearing impairment)\n", + " \n", + " \n", + " Abnormal volitional state\n", + " definition of HP:0025780 (Abnormal volitional state)\n", + " \n", + " \n", + " An abnormality of internal states of motivation or drive that compromise, or interfere with, the ability of the person to attend to basic personal, social, or vocational activities.\n", + " definition of HP:0025780 (Abnormal volitional state)\n", + " \n", + " \n", + " Ivory epiphysis of the middle phalanx of the 3rd toe\n", + " definition of HP:0100152 (Ivory epiphysis of the middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Increased bone density of end part of the middle bone of the 3rd toe\n", + " definition of HP:0100152 (Ivory epiphysis of the middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " Decreased proportion of marginal zone B cells\n", + " definition of HP:0030384 (Decreased proportion of marginal zone B cells)\n", + " \n", + " \n", + " A reduction in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells.\n", + " definition of HP:0030384 (Decreased proportion of marginal zone B cells)\n", + " \n", + " \n", + " Subchorionic thrombohematoma\n", + " definition of HP:0030714 (Subchorionic thrombohematoma)\n", + " \n", + " \n", + " A large maternal clot that separates the chorionic plate from the villous chorion.\n", + " definition of HP:0030714 (Subchorionic thrombohematoma)\n", + " \n", + " \n", + " #Breus' mole\n", + " definition of HP:0030714 (Subchorionic thrombohematoma)\n", + " \n", + " \n", + " Ivory epiphyses of the 3rd finger\n", + " definition of HP:0009416 (Ivory epiphyses of the 3rd finger)\n", + " \n", + " \n", + " Sclerosis of the epiphyses of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.\n", + " definition of HP:0009416 (Ivory epiphyses of the 3rd finger)\n", + " \n", + " \n", + " #Increased bone density of end part of the middle finger bone\n", + " definition of HP:0009416 (Ivory epiphyses of the 3rd finger)\n", + " \n", + " \n", + " Enamel agenesis\n", + " definition of HP:0033785 (Enamel agenesis)\n", + " \n", + " \n", + " Complete or almost complete absence of enamel.\n", + " definition of HP:0033785 (Enamel agenesis)\n", + " \n", + " \n", + " Abnormal peroxisomal morphology\n", + " definition of HP:0034552 (Abnormal peroxisomal morphology)\n", + " \n", + " \n", + " Structural anomaly of peroxisomes, which are small, membrane-enclosed metabolic organelles with roles in the metabolism of complex lipids and reactive ionic species.\n", + " definition of HP:0034552 (Abnormal peroxisomal morphology)\n", + " \n", + " \n", + " Anal margin melanoma\n", + " definition of HP:0030444 (Anal margin melanoma)\n", + " \n", + " \n", + " A melanoma that originates in the anal margin.\n", + " definition of HP:0030444 (Anal margin melanoma)\n", + " \n", + " \n", + " Adenomyosis\n", + " definition of HP:0034326 (Adenomyosis)\n", + " \n", + " \n", + " Inappropriate (ectopic) endometrial tissue proliferation within the uterine myometrium, often presenting clinically with painful menses and heavy menstrual bleeding.\n", + " definition of HP:0034326 (Adenomyosis)\n", + " \n", + " \n", + " Fulminant hepatic failure\n", + " definition of HP:0004448 (Fulminant hepatic failure)\n", + " \n", + " \n", + " Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as fulminant if there is onset of encephalopathy within 4 weeks of the onset of symptoms in a patient with a previously healthy liver.\n", + " definition of HP:0004448 (Fulminant hepatic failure)\n", + " \n", + " \n", + " Abnormal astrocyte morphology\n", + " definition of HP:0100707 (Abnormal astrocyte morphology)\n", + " \n", + " \n", + " An abnormality of astrocytes.\n", + " definition of HP:0100707 (Abnormal astrocyte morphology)\n", + " \n", + " \n", + " #Abnormality of the astrocytes\n", + " definition of HP:0100707 (Abnormal astrocyte morphology)\n", + " \n", + " \n", + " Obstructive shock\n", + " definition of HP:0031276 (Obstructive shock)\n", + " \n", + " \n", + " A type of shock characterized by inadequate cardiac preload due to obstructed venous return (e.g. pericardial tamponade, tension pneumothorax, abdominal compartment) or obstruction of arterial blood flow (e.g. pulmonary embolism).\n", + " definition of HP:0031276 (Obstructive shock)\n", + " \n", + " \n", + " Atrial situs inversus\n", + " definition of HP:0011538 (Atrial situs inversus)\n", + " \n", + " \n", + " Mirror image atrial arrangement, with morphologic right atrium on the left hand side and morphologic left atrium on the right hand side.\n", + " definition of HP:0011538 (Atrial situs inversus)\n", + " \n", + " \n", + " Loculated ascites\n", + " definition of HP:0025673 (Loculated ascites)\n", + " \n", + " \n", + " A type of ascites (peritoneal fluid collection) that is divided into loculi (compartments) by septa (fibrous walls). Ascites fluid can become loculated when confined by adhesions, malignancy or infection.\n", + " definition of HP:0025673 (Loculated ascites)\n", + " \n", + " \n", + " #Septated ascites\n", + " definition of HP:0025673 (Loculated ascites)\n", + " \n", + " \n", + " Internally rotated shoulders\n", + " definition of HP:0006659 (Internally rotated shoulders)\n", + " \n", + " \n", + " #Internally rotated shoulders\n", + " definition of HP:0006659 (Internally rotated shoulders)\n", + " \n", + " \n", + " Fish odor\n", + " definition of HP:0410020 (Fish odor)\n", + " \n", + " \n", + " Body odor characterized by an offensive body odor and the smell of rotting fish due to the excessive excretion of trimethylamine (TMA) in the urine, sweat, and breath of affected individuals.\n", + " definition of HP:0410020 (Fish odor)\n", + " \n", + " \n", + " #Fish odor #Fishy body odor #Fishy body odour #Fishy odor #Fishy odour\n", + " definition of HP:0410020 (Fish odor)\n", + " \n", + " \n", + " Abnormal circulating A-type atrial natriuretic peptide concentration\n", + " definition of HP:0020182 (Abnormal circulating A-type atrial natriuretic peptide concentration)\n", + " \n", + " \n", + " A measurable change in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure.\n", + " definition of HP:0020182 (Abnormal circulating A-type atrial natriuretic peptide concentration)\n", + " \n", + " \n", + " #Abnormal A-type atrial natriuretic peptide level\n", + " definition of HP:0020182 (Abnormal circulating A-type atrial natriuretic peptide concentration)\n", + " \n", + " \n", + " Triggered by stress\n", + " definition of HP:0025226 (Triggered by stress)\n", + " \n", + " \n", + " Applies to a sign or symptom that is provoked or brought about by a physical, mental, or emotional factor associated with bodily or mental tension.\n", + " definition of HP:0025226 (Triggered by stress)\n", + " \n", + " \n", + " #Stress triggered symptoms #Triggered by stress\n", + " definition of HP:0025226 (Triggered by stress)\n", + " \n", + " \n", + " Small posterior fossa\n", + " definition of HP:0040010 (Small posterior fossa)\n", + " \n", + " \n", + " Hyperextensible skin of chest\n", + " definition of HP:0011930 (Hyperextensible skin of chest)\n", + " \n", + " \n", + " #Hyperelastic chest skin #Stretchable chest skin\n", + " definition of HP:0011930 (Hyperextensible skin of chest)\n", + " \n", + " \n", + " Abnormality of glycolysis\n", + " definition of HP:0004366 (Abnormality of glycolysis)\n", + " \n", + " \n", + " An abnormality of glycolysis.\n", + " definition of HP:0004366 (Abnormality of glycolysis)\n", + " \n", + " \n", + " Abnormal sella turcica morphology\n", + " definition of HP:0002679 (Abnormal sella turcica morphology)\n", + " \n", + " \n", + " Abnormality of the sella turcica, a saddle-shaped depression in the sphenoid bone at the base of the human skull.\n", + " definition of HP:0002679 (Abnormal sella turcica morphology)\n", + " \n", + " \n", + " #Abnormality of the sella turcica #Anomaly of the sella turcica\n", + " definition of HP:0002679 (Abnormal sella turcica morphology)\n", + " \n", + " \n", + " Pharyngeal myxoma\n", + " definition of HP:6000074 (Pharyngeal myxoma)\n", + " \n", + " \n", + " A myxoma (benign, locally infiltrative neoplasms arising from mesenchymal origin) localized to the pharynx.\n", + " definition of HP:6000074 (Pharyngeal myxoma)\n", + " \n", + " \n", + " Renal artery duplication\n", + " definition of HP:0031922 (Renal artery duplication)\n", + " \n", + " \n", + " The renal arteries carry blood from the aorta to the kidney; normally one renal artery is present on each side of the body. Renal artery duplication refers to the presence of two rather than one renal artery on a given side of the body.\n", + " definition of HP:0031922 (Renal artery duplication)\n", + " \n", + " \n", + " #Accessory renal artery #Double renal artery\n", + " definition of HP:0031922 (Renal artery duplication)\n", + " \n", + " \n", + " Abnormal response to corticotropin releasing hormone stimulation test\n", + " definition of HP:0031077 (Abnormal response to corticotropin releasing hormone stimulation test)\n", + " \n", + " \n", + " An anomalous response to the corticotropin releasing hormone (CRH) stimulation test. Normally,CRH is released by the hypothalamus to induce adrenocorticotropic hormone (ACTH) release by the anterior pituitary. In the stimulation test, CRH is administered intravenously and ACTH and cortisol are measured at intervals.\n", + " definition of HP:0031077 (Abnormal response to corticotropin releasing hormone stimulation test)\n", + " \n", + " \n", + " #Abnormal response to CRH stimulation test\n", + " definition of HP:0031077 (Abnormal response to corticotropin releasing hormone stimulation test)\n", + " \n", + " \n", + " Pulp obliteration\n", + " definition of HP:0006350 (Pulp obliteration)\n", + " \n", + " \n", + " Mineralized substance filling the entire dental pulp space.\n", + " definition of HP:0006350 (Pulp obliteration)\n", + " \n", + " \n", + " #Obliteration of the pulp chamber #Pulp canal obliteration #Reduced size of pulp chamber of tooth #Small pulp chamber of tooth\n", + " definition of HP:0006350 (Pulp obliteration)\n", + " \n", + " \n", + " Bladder carcinoma\n", + " definition of HP:0002862 (Bladder carcinoma)\n", + " \n", + " \n", + " The presence of a carcinoma of the urinary bladder.\n", + " definition of HP:0002862 (Bladder carcinoma)\n", + " \n", + " \n", + " Mucin casts\n", + " definition of HP:0025698 (Mucin casts)\n", + " \n", + " \n", + " A type of airway casts that consist of impacted mucus.\n", + " definition of HP:0025698 (Mucin casts)\n", + " \n", + " \n", + " #Acellular airway casts #Type II airway casts\n", + " definition of HP:0025698 (Mucin casts)\n", + " \n", + " \n", + " Pituitary hypothyroidism\n", + " definition of HP:0008245 (Pituitary hypothyroidism)\n", + " \n", + " \n", + " A type of hypothyroidism that results from a defect in thyroid-stimulating hormone secretion.\n", + " definition of HP:0008245 (Pituitary hypothyroidism)\n", + " \n", + " \n", + " #Low thyroid gland function due to abnormal pituitary gland #Secondary hypothyroidism #Thyroid stimulating hormone deficiency #Thyrotropin deficiency #TSH deficient hypothyroidism\n", + " definition of HP:0008245 (Pituitary hypothyroidism)\n", + " \n", + " \n", + " Disc-like vertebral bodies\n", + " definition of HP:0004591 (Disc-like vertebral bodies)\n", + " \n", + " \n", + " Nephroblastomatosis\n", + " definition of HP:0008643 (Nephroblastomatosis)\n", + " \n", + " \n", + " Presence of persistent islands of renal blastema in the postnatal kidney. Nephroblastomatosis represents a complex abnormality of nephrogenesis and has been defined as the persistence of metanephricblastema into infancy and childhood.\n", + " definition of HP:0008643 (Nephroblastomatosis)\n", + " \n", + " \n", + " Unaided visual acuity 0.1 LogMAR\n", + " definition of HP:0030536 (Unaided visual acuity 0.1 LogMAR)\n", + " \n", + " \n", + " Abnormal midbrain morphology\n", + " definition of HP:0002418 (Abnormal midbrain morphology)\n", + " \n", + " \n", + " An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct.\n", + " definition of HP:0002418 (Abnormal midbrain morphology)\n", + " \n", + " \n", + " #Abnormal shape of midbrain #Abnormality of midbrain morphology #Abnormality of the mesencephalon #Abnormality of the midbrain\n", + " definition of HP:0002418 (Abnormal midbrain morphology)\n", + " \n", + " \n", + " 2-3 finger cutaneous syndactyly\n", + " definition of HP:0001233 (2-3 finger cutaneous syndactyly)\n", + " \n", + " \n", + " A soft tissue continuity in the anteroposterior axis between the second to the third fingers that extends distally to at least the level of the proximal interphalangeal joints.\n", + " definition of HP:0001233 (2-3 finger cutaneous syndactyly)\n", + " \n", + " \n", + " #Syndactyly 2nd-3rd fingers #Syndactyly, 2-3 finger #Webbed 2nd-3rd fingers\n", + " definition of HP:0001233 (2-3 finger cutaneous syndactyly)\n", + " \n", + " \n", + " Abdominal cramps\n", + " definition of HP:0032155 (Abdominal cramps)\n", + " \n", + " \n", + " A type of abdominal pain characterized by a feeling of contractions and typically fluctuating in intensity.\n", + " definition of HP:0032155 (Abdominal cramps)\n", + " \n", + " \n", + " Abnormality of the urachus\n", + " definition of HP:0010478 (Abnormality of the urachus)\n", + " \n", + " \n", + " Abnormality of the urachus.\n", + " definition of HP:0010478 (Abnormality of the urachus)\n", + " \n", + " \n", + " Popcorn calcification\n", + " definition of HP:6000871 (Popcorn calcification)\n", + " \n", + " \n", + " Popcorn calcifications are areas of amorphous calcifications often with rings and arcs that resemble popped corn kernels in the metaphysis and epiphysis around the growth plate.\n", + " definition of HP:6000871 (Popcorn calcification)\n", + " \n", + " \n", + " Monotonic speech\n", + " definition of HP:0031435 (Monotonic speech)\n", + " \n", + " \n", + " A speech pattern characterized by a persistently abnormal lack of tone in the voice. Monotonic speech is typically ongoing, lasting throughout the day, but may have a diurnal variation in the pattern, i.e. slower at specific times of the day.\n", + " definition of HP:0031435 (Monotonic speech)\n", + " \n", + " \n", + " #Flat speech\n", + " definition of HP:0031435 (Monotonic speech)\n", + " \n", + " \n", + " Deformed rib cage\n", + " definition of HP:0000886 (Deformed rib cage)\n", + " \n", + " \n", + " Malformation of the rib cage.\n", + " definition of HP:0000886 (Deformed rib cage)\n", + " \n", + " \n", + " #Deformed rib cage\n", + " definition of HP:0000886 (Deformed rib cage)\n", + " \n", + " \n", + " Abnormal response to endocrine stimulation test\n", + " definition of HP:0031073 (Abnormal response to endocrine stimulation test)\n", + " \n", + " \n", + " An anomalous response to a test that is designed to probe the function of the endocrine system.\n", + " definition of HP:0031073 (Abnormal response to endocrine stimulation test)\n", + " \n", + " \n", + " Cervical aortic arch\n", + " definition of HP:0011588 (Cervical aortic arch)\n", + " \n", + " \n", + " The aortic arch extends into the soft tissues of the neck before turning down into to become the descending aorta.\n", + " definition of HP:0011588 (Cervical aortic arch)\n", + " \n", + " \n", + " Fetal choroid plexus cysts\n", + " definition of HP:0011426 (Fetal choroid plexus cysts)\n", + " \n", + " \n", + " Fetal choroid plexus cysts (CPCs) are sonographically discrete, small cysts found in the choroid plexus within the lateral cerebral ventricles of the developing fetus at 14 to 24 weeks gestation. Imaging of the choroid plexus is performed in the transverse plane of the fetal head at the same level that the lateral cerebral ventricle is evaluated. The choroid plexus should be inspected bilaterally for the presence of cysts. The size of CPCs is not of clinical relevance (PMID:16100637).\n", + " definition of HP:0011426 (Fetal choroid plexus cysts)\n", + " \n", + " \n", + " #Foetal choroid plexus cysts\n", + " definition of HP:0011426 (Fetal choroid plexus cysts)\n", + " \n", + " \n", + " Tracheal papilloma\n", + " definition of HP:0033003 (Tracheal papilloma)\n", + " \n", + " \n", + " A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on the trachea.\n", + " definition of HP:0033003 (Tracheal papilloma)\n", + " \n", + " \n", + " Bronchial breath sound\n", + " definition of HP:0031994 (Bronchial breath sound)\n", + " \n", + " \n", + " Bronchial breath sounds contain much higher frequency components than normal breath sounds due to alteration of the low pass filtering function of the alveoli, as occurs in consolidation. It is loud, hollow, and high pitch. Expiratory phase is longer than inspiratory phase with the inspiratory-expiratory ratio (I:E) changing from normal 3:1 to 1:2. There is distinct pause between inspiration and expiration due to absent alveolar phase. It is associated with whispering pectoriloquy.\n", + " definition of HP:0031994 (Bronchial breath sound)\n", + " \n", + " \n", + " Bronchiectasis\n", + " definition of HP:0002110 (Bronchiectasis)\n", + " \n", + " \n", + " Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.\n", + " definition of HP:0002110 (Bronchiectasis)\n", + " \n", + " \n", + " #Permanent enlargement of the airways of the lungs\n", + " definition of HP:0002110 (Bronchiectasis)\n", + " \n", + " \n", + " Abnormal amplitude of light-adapted single flash electroretinogram\n", + " definition of HP:0030481 (Abnormal amplitude of light-adapted single flash electroretinogram)\n", + " \n", + " \n", + " Neonatal bilateral symmetric tonic seizure\n", + " definition of HP:0032828 (Neonatal bilateral symmetric tonic seizure)\n", + " \n", + " \n", + " Neonatal bilateral symmetric tonic seizure is a type of neonatal electro-clinical tonic seizure where the sustained increase in muscle tone, lasting a few seconds to minutes, occurs at both sides of the body symmetrically.\n", + " definition of HP:0032828 (Neonatal bilateral symmetric tonic seizure)\n", + " \n", + " \n", + " Scalloped appearance of liver surface\n", + " definition of HP:6000628 (Scalloped appearance of liver surface)\n", + " \n", + " \n", + " A lesion associated with pseudomyxoma peritonei whosetypical CT appearance is scalloping of the surface of the liver and spleen caused by loculated accumulations of mucin, which distinguishes mucin from fluid ascites. The mucinous material is similar in density to water. There are also islands of higher attenuation due to scattered solid elements and calcification within mucinous material.\n", + " definition of HP:6000628 (Scalloped appearance of liver surface)\n", + " \n", + " \n", + " #Scalloping of surface of liver and spleen #Scalloping of the surface of the liver and spleen\n", + " definition of HP:6000628 (Scalloped appearance of liver surface)\n", + " \n", + " \n", + " Mitochondrial depletion\n", + " definition of HP:0030059 (Mitochondrial depletion)\n", + " \n", + " \n", + " An abnormal reduction in mitochondrial DNA content of cells.\n", + " definition of HP:0030059 (Mitochondrial depletion)\n", + " \n", + " \n", + " Central scotoma\n", + " definition of HP:0000603 (Central scotoma)\n", + " \n", + " \n", + " An area of depressed vision located at the point of fixation and that interferes with central vision.\n", + " definition of HP:0000603 (Central scotoma)\n", + " \n", + " \n", + " #Central blind spot #Central scotomata\n", + " definition of HP:0000603 (Central scotoma)\n", + " \n", + " \n", + " Junctional ectopic tachycardia\n", + " definition of HP:0011716 (Junctional ectopic tachycardia)\n", + " \n", + " \n", + " Junctional ectopic tachycardia (JET) is a unique type of supraventricular arrhythmia defined by narrow QRS complex and atrioventricular (AV) dissociation or retrograde atrial conduction in a 1:1 pattern.\n", + " definition of HP:0011716 (Junctional ectopic tachycardia)\n", + " \n", + " \n", + " Functional abnormality of the inner ear\n", + " definition of HP:0011389 (Functional abnormality of the inner ear)\n", + " \n", + " \n", + " An abnormality of the function of the inner ear.\n", + " definition of HP:0011389 (Functional abnormality of the inner ear)\n", + " \n", + " \n", + " #Functional abnormality of the inner ear\n", + " definition of HP:0011389 (Functional abnormality of the inner ear)\n", + " \n", + " \n", + " Abnormality of the neck\n", + " definition of HP:0000464 (Abnormality of the neck)\n", + " \n", + " \n", + " An abnormality of the neck.\n", + " definition of HP:0000464 (Abnormality of the neck)\n", + " \n", + " \n", + " #Abnormality of the neck #Anomaly of the neck\n", + " definition of HP:0000464 (Abnormality of the neck)\n", + " \n", + " \n", + " Trigeminal neuralgia\n", + " definition of HP:0100661 (Trigeminal neuralgia)\n", + " \n", + " \n", + " A neuropathic disorder characterized by episodes of intense pain in the face, originating from the trigeminal nerve. One, two, or all three branches of the nerve may be affected.\n", + " definition of HP:0100661 (Trigeminal neuralgia)\n", + " \n", + " \n", + " #Tic douloureux\n", + " definition of HP:0100661 (Trigeminal neuralgia)\n", + " \n", + " \n", + " History of previous pregnancy with hydrops fetalis\n", + " definition of HP:4000173 (History of previous pregnancy with hydrops fetalis)\n", + " \n", + " \n", + " One or more previous pregnancies in which the fetus developed hydrops fetalis.\n", + " definition of HP:4000173 (History of previous pregnancy with hydrops fetalis)\n", + " \n", + " \n", + " #History of hydrops fetalis in newborn offspring\n", + " definition of HP:4000173 (History of previous pregnancy with hydrops fetalis)\n", + " \n", + " \n", + " Increased bone mineral density\n", + " definition of HP:0011001 (Increased bone mineral density)\n", + " \n", + " \n", + " An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones.\n", + " definition of HP:0011001 (Increased bone mineral density)\n", + " \n", + " \n", + " #Increased bone density #Increased bone mineral density #Osteosclerosis #Osteosclerosis of bones\n", + " definition of HP:0011001 (Increased bone mineral density)\n", + " \n", + " \n", + " Protein-losing enteropathy\n", + " definition of HP:0002243 (Protein-losing enteropathy)\n", + " \n", + " \n", + " Abnormal loss of protein from the digestive tract related to excessive leakage of plasma proteins into the lumen of the gastrointestinal tract.\n", + " definition of HP:0002243 (Protein-losing enteropathy)\n", + " \n", + " \n", + " Decreased circulating IgG1 concentration\n", + " definition of HP:0032136 (Decreased circulating IgG1 concentration)\n", + " \n", + " \n", + " A reduction in immunoglobulin levels of the IgG1 subclass in the blood circulation.\n", + " definition of HP:0032136 (Decreased circulating IgG1 concentration)\n", + " \n", + " \n", + " #Decreased circulating IgG1 level #Decreased IgG1 level in blood\n", + " definition of HP:0032136 (Decreased circulating IgG1 concentration)\n", + " \n", + " \n", + " Urinary excretion of sialylated oligosaccharides\n", + " definition of HP:0012061 (Urinary excretion of sialylated oligosaccharides)\n", + " \n", + " \n", + " Excretion of oligosaccharides conjugated to sialic acid in the urine.\n", + " definition of HP:0012061 (Urinary excretion of sialylated oligosaccharides)\n", + " \n", + " \n", + " #Increased urinary sialyloligosaccharides\n", + " definition of HP:0012061 (Urinary excretion of sialylated oligosaccharides)\n", + " \n", + " \n", + " Patellar overgrowth\n", + " definition of HP:0033308 (Patellar overgrowth)\n", + " \n", + " \n", + " Excessive growth of the kneecap (patella).\n", + " definition of HP:0033308 (Patellar overgrowth)\n", + " \n", + " \n", + " Acute monocytic leukemia\n", + " definition of HP:0004845 (Acute monocytic leukemia)\n", + " \n", + " \n", + " The accumulation of transformed primitive hematopoietic blast cells, which lose their ability of normal differentiation and proliferation.\n", + " definition of HP:0004845 (Acute monocytic leukemia)\n", + " \n", + " \n", + " #Acute monoblastic leukaemia #Acute monoblastic leukemia #Acute monocytic leukaemia #AML-M5 #AMoL\n", + " definition of HP:0004845 (Acute monocytic leukemia)\n", + " \n", + " \n", + " Abnormal cortical radial artery endothelium morphology\n", + " definition of HP:0033952 (Abnormal cortical radial artery endothelium morphology)\n", + " \n", + " \n", + " Abnormal structural characteristics of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney.\n", + " definition of HP:0033952 (Abnormal cortical radial artery endothelium morphology)\n", + " \n", + " \n", + " #Abnormalities of the interlobular arterial endothelium\n", + " definition of HP:0033952 (Abnormal cortical radial artery endothelium morphology)\n", + " \n", + " \n", + " Positive bloodstream MERS coronavirus nucleic acid test\n", + " definition of HP:6000741 (Positive bloodstream MERS coronavirus nucleic acid test)\n", + " \n", + " \n", + " Detection of nucleic acid of Middle East Respiratory Syndrome coronavirus (MERS-CoV) in the blood circulation by a method such as polymerase chain reaction (PCR).\n", + " definition of HP:6000741 (Positive bloodstream MERS coronavirus nucleic acid test)\n", + " \n", + " \n", + " Teratoma\n", + " definition of HP:0009792 (Teratoma)\n", + " \n", + " \n", + " The presence of a teratoma.\n", + " definition of HP:0009792 (Teratoma)\n", + " \n", + " \n", + " Decreased proportion of naive B cells\n", + " definition of HP:0030372 (Decreased proportion of naive B cells)\n", + " \n", + " \n", + " A reduction below normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen.\n", + " definition of HP:0030372 (Decreased proportion of naive B cells)\n", + " \n", + " \n", + " Elevated circulating myoglobin concentration\n", + " definition of HP:0033438 (Elevated circulating myoglobin concentration)\n", + " \n", + " \n", + " An increased blood concentration of myoglobin.\n", + " definition of HP:0033438 (Elevated circulating myoglobin concentration)\n", + " \n", + " \n", + " Rhabdomyosarcoma\n", + " definition of HP:0002859 (Rhabdomyosarcoma)\n", + " \n", + " \n", + " Encephalopathy\n", + " definition of HP:0001298 (Encephalopathy)\n", + " \n", + " \n", + " Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.\n", + " definition of HP:0001298 (Encephalopathy)\n", + " \n", + " \n", + " Urinary glycosaminoglycan excretion\n", + " definition of HP:0003541 (Urinary glycosaminoglycan excretion)\n", + " \n", + " \n", + " Excretion of glycosaminoglycan in the urine. Glycosaminoglycans are long unbranched polysaccharides consisting of a repeating disaccharide unit.\n", + " definition of HP:0003541 (Urinary glycosaminoglycan excretion)\n", + " \n", + " \n", + " Bracket epiphysis of the distal phalanx of the 5th toe\n", + " definition of HP:0100203 (Bracket epiphysis of the distal phalanx of the 5th toe)\n", + " \n", + " \n", + " #Bracket shaped end part of the outermost bone of the little toe #Bracket shaped end part of the outermost bone of the pinkie toe #Bracket shaped end part of the outermost bone of the pinky toe\n", + " definition of HP:0100203 (Bracket epiphysis of the distal phalanx of the 5th toe)\n", + " \n", + " \n", + " Undetectable visual evoked potentials\n", + " definition of HP:0007965 (Undetectable visual evoked potentials)\n", + " \n", + " \n", + " #Absence of visual evoked potentials #Non-detectable VEP #Undetectable VEP\n", + " definition of HP:0007965 (Undetectable visual evoked potentials)\n", + " \n", + " \n", + " Self-mutilation of tongue and lips due to involuntary movements\n", + " definition of HP:0008767 (Self-mutilation of tongue and lips due to involuntary movements)\n", + " \n", + " \n", + " Uncontrolled movements result in tissue damage to the tongue and lips.\n", + " definition of HP:0008767 (Self-mutilation of tongue and lips due to involuntary movements)\n", + " \n", + " \n", + " #Self-mutilation of tongue and lips due to involuntary movements\n", + " definition of HP:0008767 (Self-mutilation of tongue and lips due to involuntary movements)\n", + " \n", + " \n", + " Hypoplasia of teeth\n", + " definition of HP:0000685 (Hypoplasia of teeth)\n", + " \n", + " \n", + " Developmental hypoplasia of teeth.\n", + " definition of HP:0000685 (Hypoplasia of teeth)\n", + " \n", + " \n", + " #Hypoplastic teeth\n", + " definition of HP:0000685 (Hypoplasia of teeth)\n", + " \n", + " \n", + " Fractured humerus\n", + " definition of HP:0041055 (Fractured humerus)\n", + " \n", + " \n", + " A partial or complete breakage of the humerus.\n", + " definition of HP:0041055 (Fractured humerus)\n", + " \n", + " \n", + " #bone humerus #Broken humerus #Fracture of the humerus #Humeral fracture #Humerus fracture\n", + " definition of HP:0041055 (Fractured humerus)\n", + " \n", + " \n", + " Duplication of the phalanges of the 2nd toe\n", + " definition of HP:0010355 (Duplication of the phalanges of the 2nd toe)\n", + " \n", + " \n", + " Partial or complete duplication of a phalanx of second toe.\n", + " definition of HP:0010355 (Duplication of the phalanges of the 2nd toe)\n", + " \n", + " \n", + " #Duplication of the bones of the 2nd toe #Partial/complete duplication of the phalanges of the 2nd toe\n", + " definition of HP:0010355 (Duplication of the phalanges of the 2nd toe)\n", + " \n", + " \n", + " Short tubular bones of the hand\n", + " definition of HP:0001248 (Short tubular bones of the hand)\n", + " \n", + " \n", + " Decreased length of the tubular bones of the hand, that is, the phalanges and metacarpals.\n", + " definition of HP:0001248 (Short tubular bones of the hand)\n", + " \n", + " \n", + " #Long bone shortening of the hand #Short long bones of the hand #Shortened long tubular bones of the hand #Shortened tubular bones of the hand\n", + " definition of HP:0001248 (Short tubular bones of the hand)\n", + " \n", + " \n", + " Decreased circulating IgG concentration\n", + " definition of HP:0004315 (Decreased circulating IgG concentration)\n", + " \n", + " \n", + " An abnormally decreased level of immunoglobulin G (IgG) in blood.\n", + " definition of HP:0004315 (Decreased circulating IgG concentration)\n", + " \n", + " \n", + " #Decreased circulating IgG level #Decreased gamma-globin expression #Decreased IgG level #Decreased IgG level in blood #Decreased immunoglobulin G #Decreased serum IgG #IgG deficiency #Reduced IgG levels\n", + " definition of HP:0004315 (Decreased circulating IgG concentration)\n", + " \n", + " \n", + " Increased intramyocellular lipid droplets\n", + " definition of HP:0012240 (Increased intramyocellular lipid droplets)\n", + " \n", + " \n", + " An abnormal increase in intracellular lipid droplets In a muscle. The number and size of these drops can increase with somd disorders of lipid metabolism affecting muscle. See PMID 20691590 for histological images.\n", + " definition of HP:0012240 (Increased intramyocellular lipid droplets)\n", + " \n", + " \n", + " Dilated left subclavian artery\n", + " definition of HP:0031252 (Dilated left subclavian artery)\n", + " \n", + " \n", + " Abnormally increased caliber of the left subclavian artery.\n", + " definition of HP:0031252 (Dilated left subclavian artery)\n", + " \n", + " \n", + " Myocardial eosinophilic infiltration\n", + " definition of HP:0031323 (Myocardial eosinophilic infiltration)\n", + " \n", + " \n", + " An increase in the number of eosinophils in myocardial tissue.\n", + " definition of HP:0031323 (Myocardial eosinophilic infiltration)\n", + " \n", + " \n", + " Elbow contracture\n", + " definition of HP:0034391 (Elbow contracture)\n", + " \n", + " \n", + " A limitation in the passive range of motion of the elbow resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin.\n", + " definition of HP:0034391 (Elbow contracture)\n", + " \n", + " \n", + " Enlarged epiphysis of the 1st metacarpal\n", + " definition of HP:0010018 (Enlarged epiphysis of the 1st metacarpal)\n", + " \n", + " \n", + " Abnormally large size of the epiphyses of the 1st metacarpal with respect to age-dependent norms.\n", + " definition of HP:0010018 (Enlarged epiphysis of the 1st metacarpal)\n", + " \n", + " \n", + " #Enlarged end part of the 1st long bone of hand\n", + " definition of HP:0010018 (Enlarged epiphysis of the 1st metacarpal)\n", + " \n", + " \n", + " Colonic fibrinopurulent exudate\n", + " definition of HP:0034638 (Colonic fibrinopurulent exudate)\n", + " \n", + " \n", + " Fluid visible on the colonic surface containing fibrin, inflammatory cells, and cellular debris.\n", + " definition of HP:0034638 (Colonic fibrinopurulent exudate)\n", + " \n", + " \n", + " Round spermatid arrest\n", + " definition of HP:0031040 (Round spermatid arrest)\n", + " \n", + " \n", + " A failure of spermatogenesis to progress beyond the round spermatid stage. The round spermatid is the first haploid cells produced during spermatogenesis and normally further develop into mature spermatozoa. This abnormality can be visualized with testicular biopsy and is characterized seminiferous tubules with increased numbers of round spermatids with few or no mature spermatozoa.\n", + " definition of HP:0031040 (Round spermatid arrest)\n", + " \n", + " \n", + " #Maturation arrest of spermatogenesis at spermatid stage\n", + " definition of HP:0031040 (Round spermatid arrest)\n", + " \n", + " \n", + " Elevated brain polyol compounds by MRS\n", + " definition of HP:0034894 (Elevated brain polyol compounds by MRS)\n", + " \n", + " \n", + " An increase in the level of polyol compounds in the brain identified by magnetic resonance spectroscopy (MRS).\n", + " definition of HP:0034894 (Elevated brain polyol compounds by MRS)\n", + " \n", + " \n", + " Cerebral cavernous malformation\n", + " definition of HP:0033522 (Cerebral cavernous malformation)\n", + " \n", + " \n", + " A cerebral cavernous malformation (also known as cavernoma, cavernous angioma, cavernous hemangioma) is a collection of structurally abnormal slow-flow capillaries predominantly in the central nervous system. These are multiple mulberry-like distended caverns of dilated thin-walled capillaries without the normal intervening brain parenchymal architecture. Often, individual cavernomas are surrounded by hemosiderin representing remote oozing due to the abnormal capillaries.\n", + " definition of HP:0033522 (Cerebral cavernous malformation)\n", + " \n", + " \n", + " Pruritus\n", + " definition of HP:0000989 (Pruritus)\n", + " \n", + " \n", + " Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.\n", + " definition of HP:0000989 (Pruritus)\n", + " \n", + " \n", + " #Itching #Itchy skin #Skin itching\n", + " definition of HP:0000989 (Pruritus)\n", + " \n", + " \n", + " Urethral atresia, male\n", + " definition of HP:0000052 (Urethral atresia, male)\n", + " \n", + " \n", + " Congenital anomaly characterized by closure or failure to develop an opening in the urethra in males.\n", + " definition of HP:0000052 (Urethral atresia, male)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the nasal bone\n", + " definition of HP:0010940 (Aplasia/Hypoplasia of the nasal bone)\n", + " \n", + " \n", + " Absence or underdevelopment of the nasal bone.\n", + " definition of HP:0010940 (Aplasia/Hypoplasia of the nasal bone)\n", + " \n", + " \n", + " Phenotypic abnormality\n", + " definition of HP:0000118 (Phenotypic abnormality)\n", + " \n", + " \n", + " A phenotypic abnormality.\n", + " definition of HP:0000118 (Phenotypic abnormality)\n", + " \n", + " \n", + " #Organ abnormality\n", + " definition of HP:0000118 (Phenotypic abnormality)\n", + " \n", + " \n", + " Dentinogenesis imperfecta of primary and permanent teeth\n", + " definition of HP:0011086 (Dentinogenesis imperfecta of primary and permanent teeth)\n", + " \n", + " \n", + " Developmental dysplasia of dentin or both the primary dentition and the permanent dentition.\n", + " definition of HP:0011086 (Dentinogenesis imperfecta of primary and permanent teeth)\n", + " \n", + " \n", + " #Dentinogenesis imperfecta of adult and baby teeth #Dentinogenesis imperfecta of both sets of teeth\n", + " definition of HP:0011086 (Dentinogenesis imperfecta of primary and permanent teeth)\n", + " \n", + " \n", + " Hepatic mastocytosis\n", + " definition of HP:0031824 (Hepatic mastocytosis)\n", + " \n", + " \n", + " Liver mast cell infiltration.\n", + " definition of HP:0031824 (Hepatic mastocytosis)\n", + " \n", + " \n", + " Biceps aplasia\n", + " definition of HP:0009783 (Biceps aplasia)\n", + " \n", + " \n", + " Absence of the biceps muscle.\n", + " definition of HP:0009783 (Biceps aplasia)\n", + " \n", + " \n", + " #Absent biceps\n", + " definition of HP:0009783 (Biceps aplasia)\n", + " \n", + " \n", + " Ameliorated by gastric acid-reducing therapy\n", + " definition of HP:6000350 (Ameliorated by gastric acid-reducing therapy)\n", + " \n", + " \n", + " Applies to a sign or symptom that is improved or made more bearable by treatment with an agent that reduces gastric acidity such as proton pump inhibitors, histamine receptor blockers,omeprazole, esomeprazole, dexlansoprazole, pantoprazole, lansoprazole, famotidine, or ranitidine.\n", + " definition of HP:6000350 (Ameliorated by gastric acid-reducing therapy)\n", + " \n", + " \n", + " Galactorrhea\n", + " definition of HP:0100829 (Galactorrhea)\n", + " \n", + " \n", + " Spontaneous flow of milk from the breast, unassociated with childbirth or nursing.\n", + " definition of HP:0100829 (Galactorrhea)\n", + " \n", + " \n", + " #Galactorrhoea #Spontaneous milk flow from breast\n", + " definition of HP:0100829 (Galactorrhea)\n", + " \n", + " \n", + " EEG with frontal epileptiform discharges\n", + " definition of HP:0033716 (EEG with frontal epileptiform discharges)\n", + " \n", + " \n", + " Focal epileptiform EEG discharges recorded in the frontal region.\n", + " definition of HP:0033716 (EEG with frontal epileptiform discharges)\n", + " \n", + " \n", + " Hypoparathyroidism\n", + " definition of HP:0000829 (Hypoparathyroidism)\n", + " \n", + " \n", + " A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia.\n", + " definition of HP:0000829 (Hypoparathyroidism)\n", + " \n", + " \n", + " #Decreased parathyroid hormone secretion #Low parathyroid hormone\n", + " definition of HP:0000829 (Hypoparathyroidism)\n", + " \n", + " \n", + " Abnormal renal tubular resorption\n", + " definition of HP:0011038 (Abnormal renal tubular resorption)\n", + " \n", + " \n", + " An abnormality of renal absorption.\n", + " definition of HP:0011038 (Abnormal renal tubular resorption)\n", + " \n", + " \n", + " #Abnormal renal resorption #Abnormality of renal resorption\n", + " definition of HP:0011038 (Abnormal renal tubular resorption)\n", + " \n", + " \n", + " Acrokeratosis\n", + " definition of HP:0200016 (Acrokeratosis)\n", + " \n", + " \n", + " Overgrowth of the stratum corneum characterized by flesh-coloured or slightly pigmented smooth or warty papules on the upper surface of hands and feet.\n", + " definition of HP:0200016 (Acrokeratosis)\n", + " \n", + " \n", + " #Acral keratosis\n", + " definition of HP:0200016 (Acrokeratosis)\n", + " \n", + " \n", + " Bilioduodenal fistula\n", + " definition of HP:6000453 (Bilioduodenal fistula)\n", + " \n", + " \n", + " An abnormal connection between the gallbladder and the duodenum.\n", + " definition of HP:6000453 (Bilioduodenal fistula)\n", + " \n", + " \n", + " #Bouveret syndrome\n", + " definition of HP:6000453 (Bilioduodenal fistula)\n", + " \n", + " \n", + " Lower extremity hypokinesia\n", + " definition of HP:0033414 (Lower extremity hypokinesia)\n", + " \n", + " \n", + " Abnormally diminished movement of the lower extremities. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency.\n", + " definition of HP:0033414 (Lower extremity hypokinesia)\n", + " \n", + " \n", + " #Hypokinesia of the lower extremities\n", + " definition of HP:0033414 (Lower extremity hypokinesia)\n", + " \n", + " \n", + " Hyperapobetalipoproteinemia\n", + " definition of HP:0008158 (Hyperapobetalipoproteinemia)\n", + " \n", + " \n", + " Hyperapobetalipoproteinemia is defined as the combination of a normal low density lipoprotein (LDL) cholesterol in the face of an increased LDL apolipoprotein B (apoB) protein.\n", + " definition of HP:0008158 (Hyperapobetalipoproteinemia)\n", + " \n", + " \n", + " Female anorgasmia\n", + " definition of HP:0030015 (Female anorgasmia)\n", + " \n", + " \n", + " The persistent of recurrent difficulty, delay in, or absence of attaining orgasm following sufficient sexual stimulation and arousal.\n", + " definition of HP:0030015 (Female anorgasmia)\n", + " \n", + " \n", + " Small bowel diverticula\n", + " definition of HP:0002256 (Small bowel diverticula)\n", + " \n", + " \n", + " Porcelain gallbladder\n", + " definition of HP:6000451 (Porcelain gallbladder)\n", + " \n", + " \n", + " Porcelain gallbladder refers to the condition in which the inner gallbladder wall is encrusted with calcium. The wall becomes brittle, hard, and often takes on a bluish hue. It is usually found incidentally on plain abdominal x-rays or other imaging because most patients are asymptomatic.\n", + " definition of HP:6000451 (Porcelain gallbladder)\n", + " \n", + " \n", + " #Calcified gallbladder #Calcifying cholecystitis #Cholecystopathia chronica calcarea\n", + " definition of HP:6000451 (Porcelain gallbladder)\n", + " \n", + " \n", + " Osteosclerosis of the ulna\n", + " definition of HP:0003991 (Osteosclerosis of the ulna)\n", + " \n", + " \n", + " Osteosclerosis (increased density related to increased bone mass) of the ulna.\n", + " definition of HP:0003991 (Osteosclerosis of the ulna)\n", + " \n", + " \n", + " #Sclerotic ulna\n", + " definition of HP:0003991 (Osteosclerosis of the ulna)\n", + " \n", + " \n", + " Moon facies\n", + " definition of HP:0500011 (Moon facies)\n", + " \n", + " \n", + " A rounded, puffy face with fat deposits in the temporal fossa and cheeks, a double chin.\n", + " definition of HP:0500011 (Moon facies)\n", + " \n", + " \n", + " #Moon face #Puffy face #Puffy facies\n", + " definition of HP:0500011 (Moon facies)\n", + " \n", + " \n", + " Anti-centromere protein A antibody positivity\n", + " definition of HP:0034078 (Anti-centromere protein A antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CENP-A.\n", + " definition of HP:0034078 (Anti-centromere protein A antibody positivity)\n", + " \n", + " \n", + " #Anti-CENP-A antibody positivity\n", + " definition of HP:0034078 (Anti-centromere protein A antibody positivity)\n", + " \n", + " \n", + " Anti-DPPX antibody\n", + " definition of HP:5000007 (Anti-DPPX antibody)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against dipeptidyl-peptidase-like protein 6 (DPPX).\n", + " definition of HP:5000007 (Anti-DPPX antibody)\n", + " \n", + " \n", + " #Anti-dipeptidyl-peptidase-like protein 6 antibody\n", + " definition of HP:5000007 (Anti-DPPX antibody)\n", + " \n", + " \n", + " Widened proximal tibial metaphyses\n", + " definition of HP:0005028 (Widened proximal tibial metaphyses)\n", + " \n", + " \n", + " #Wide innermost wide portion of shankbone bone #Wide innermost wide portion of shinbone bone\n", + " definition of HP:0005028 (Widened proximal tibial metaphyses)\n", + " \n", + " \n", + " Pulmonary paraglioma\n", + " definition of HP:0100636 (Pulmonary paraglioma)\n", + " \n", + " \n", + " A rare paranglioma of the lung, tumors that arise from extra-adrenal chromaffin cells.\n", + " definition of HP:0100636 (Pulmonary paraglioma)\n", + " \n", + " \n", + " Duplicated colon\n", + " definition of HP:0005223 (Duplicated colon)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the lens\n", + " definition of HP:0008063 (Aplasia/Hypoplasia of the lens)\n", + " \n", + " \n", + " Absence or underdevelopment of the lens.\n", + " definition of HP:0008063 (Aplasia/Hypoplasia of the lens)\n", + " \n", + " \n", + " #Absent/small lens #Absent/underdeveloped lens\n", + " definition of HP:0008063 (Aplasia/Hypoplasia of the lens)\n", + " \n", + " \n", + " Hyposmia\n", + " definition of HP:0004409 (Hyposmia)\n", + " \n", + " \n", + " A decreased sensitivity to odorants (that is, a decreased ability to perceive odors).\n", + " definition of HP:0004409 (Hyposmia)\n", + " \n", + " \n", + " #Decreased smell sensation #Sense of smell impaired\n", + " definition of HP:0004409 (Hyposmia)\n", + " \n", + " \n", + " Neurogenic bladder\n", + " definition of HP:0000011 (Neurogenic bladder)\n", + " \n", + " \n", + " A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention.\n", + " definition of HP:0000011 (Neurogenic bladder)\n", + " \n", + " \n", + " #Lack of bladder control due to nervous system injury\n", + " definition of HP:0000011 (Neurogenic bladder)\n", + " \n", + " \n", + " Chronic neutropenia\n", + " definition of HP:0410252 (Chronic neutropenia)\n", + " \n", + " \n", + " Neutropenia with an absolute neutrophil count (ANC) less than 1,500,000,000/L lasting for more than 3 months.\n", + " definition of HP:0410252 (Chronic neutropenia)\n", + " \n", + " \n", + " Aplasia of the abdominal wall musculature\n", + " definition of HP:0005199 (Aplasia of the abdominal wall musculature)\n", + " \n", + " \n", + " Absence of the abdominal musculature.\n", + " definition of HP:0005199 (Aplasia of the abdominal wall musculature)\n", + " \n", + " \n", + " #Absent abdominal musculature\n", + " definition of HP:0005199 (Aplasia of the abdominal wall musculature)\n", + " \n", + " \n", + " Coronary sinus enlargement\n", + " definition of HP:0031298 (Coronary sinus enlargement)\n", + " \n", + " \n", + " Abnormal increase in size of the coronary sinus.\n", + " definition of HP:0031298 (Coronary sinus enlargement)\n", + " \n", + " \n", + " #Coronary sinus dilatation #Enlarged coronary sinus\n", + " definition of HP:0031298 (Coronary sinus enlargement)\n", + " \n", + " \n", + " Abnormal endocardium morphology\n", + " definition of HP:0004306 (Abnormal endocardium morphology)\n", + " \n", + " \n", + " An abnormality of the endocardium.\n", + " definition of HP:0004306 (Abnormal endocardium morphology)\n", + " \n", + " \n", + " #Abnormality of the endocardium #Abnormality of the endomycoardium\n", + " definition of HP:0004306 (Abnormal endocardium morphology)\n", + " \n", + " \n", + " Abnormal zygomatic arch morphology\n", + " definition of HP:0005557 (Abnormal zygomatic arch morphology)\n", + " \n", + " \n", + " An abnormality of the zygomatic arch, also known as the cheek bone.\n", + " definition of HP:0005557 (Abnormal zygomatic arch morphology)\n", + " \n", + " \n", + " #Abnormality of the malar arch #Abnormality of the zygomatic arch\n", + " definition of HP:0005557 (Abnormal zygomatic arch morphology)\n", + " \n", + " \n", + " Increased circulating IgG subclass\n", + " definition of HP:0032296 (Increased circulating IgG subclass)\n", + " \n", + " \n", + " An elevation of circulating IgG level predominantly related to an elevation of one of the four IgG subclasses.\n", + " definition of HP:0032296 (Increased circulating IgG subclass)\n", + " \n", + " \n", + " Recurrent viral skin infections\n", + " definition of HP:0011371 (Recurrent viral skin infections)\n", + " \n", + " \n", + " Increased susceptibility to viral skin infections, as manifested by recurrent episodes of viral skin infections.\n", + " definition of HP:0011371 (Recurrent viral skin infections)\n", + " \n", + " \n", + " #Recurrent viral skin infections\n", + " definition of HP:0011371 (Recurrent viral skin infections)\n", + " \n", + " \n", + " Abnormality of lipoprotein cholesterol concentration\n", + " definition of HP:0010979 (Abnormality of lipoprotein cholesterol concentration)\n", + " \n", + " \n", + " An abnormal increase or decrease in the level of lipoprotein cholesterol in the blood.\n", + " definition of HP:0010979 (Abnormality of lipoprotein cholesterol concentration)\n", + " \n", + " \n", + " #Abnormality of the level of lipoprotein cholesterol\n", + " definition of HP:0010979 (Abnormality of lipoprotein cholesterol concentration)\n", + " \n", + " \n", + " Ischemic stroke\n", + " definition of HP:0002140 (Ischemic stroke)\n", + " \n", + " \n", + " Acute ischemic stroke (AIS) is defined by the sudden loss of blood flow to an area of the brain with the resulting loss of neurologic function. It is caused by thrombosis or embolism that occludes a cerebral vessel supplying a specific area of the brain. During a vessel occlusion, there is a core area where damage to the brain is irreversible and an area of penumbra where the brain has lost function owing to decreased blood flow but is not irreversibly injured.\n", + " definition of HP:0002140 (Ischemic stroke)\n", + " \n", + " \n", + " #Ischaemic stroke\n", + " definition of HP:0002140 (Ischemic stroke)\n", + " \n", + " \n", + " Left aortic arch with retroesophageal diverticulum of Kommerell\n", + " definition of HP:0011593 (Left aortic arch with retroesophageal diverticulum of Kommerell)\n", + " \n", + " \n", + " A patent ductus arteriosus or ductal ligament completes the ring.\n", + " definition of HP:0011593 (Left aortic arch with retroesophageal diverticulum of Kommerell)\n", + " \n", + " \n", + " #Kommerell diverticulum\n", + " definition of HP:0011593 (Left aortic arch with retroesophageal diverticulum of Kommerell)\n", + " \n", + " \n", + " Swollen lip\n", + " definition of HP:0031244 (Swollen lip)\n", + " \n", + " \n", + " Enlargement of the lip typically due to fluid buildup or inflammation.\n", + " definition of HP:0031244 (Swollen lip)\n", + " \n", + " \n", + " #Edematous lip #Swelling of the lip\n", + " definition of HP:0031244 (Swollen lip)\n", + " \n", + " \n", + " Elevated urinary N,N-dimethylglycine level\n", + " definition of HP:0031946 (Elevated urinary N,N-dimethylglycine level)\n", + " \n", + " \n", + " An increased concentration of N,N-dimethylglycine in the urine.\n", + " definition of HP:0031946 (Elevated urinary N,N-dimethylglycine level)\n", + " \n", + " \n", + " Elevated circulating bile alcohol concentration\n", + " definition of HP:6000821 (Elevated circulating bile alcohol concentration)\n", + " \n", + " \n", + " The concentration of bile alcohols in the blood circulation is above the upper limit of normal.\n", + " definition of HP:6000821 (Elevated circulating bile alcohol concentration)\n", + " \n", + " \n", + " Abnormal amplitude of pattern onset/offset visual evoked potentials\n", + " definition of HP:0030457 (Abnormal amplitude of pattern onset/offset visual evoked potentials)\n", + " \n", + " \n", + " #Abnormal amplitude of pattern onset/offset VEP\n", + " definition of HP:0030457 (Abnormal amplitude of pattern onset/offset visual evoked potentials)\n", + " \n", + " \n", + " Progressive conductive hearing impairment\n", + " definition of HP:0008607 (Progressive conductive hearing impairment)\n", + " \n", + " \n", + " A progressive type of conductive deafness.\n", + " definition of HP:0008607 (Progressive conductive hearing impairment)\n", + " \n", + " \n", + " #Progressive conductive deafness\n", + " definition of HP:0008607 (Progressive conductive hearing impairment)\n", + " \n", + " \n", + " Hypoplastic spleen\n", + " definition of HP:0006270 (Hypoplastic spleen)\n", + " \n", + " \n", + " Underdevelopment of the spleen.\n", + " definition of HP:0006270 (Hypoplastic spleen)\n", + " \n", + " \n", + " #Underdeveloped spleen\n", + " definition of HP:0006270 (Hypoplastic spleen)\n", + " \n", + " \n", + " Abnormal circulating thyroxine-binding globulin concentration\n", + " definition of HP:0034590 (Abnormal circulating thyroxine-binding globulin concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of thyroxine-binding globulin (TBG) in the blood circulation.\n", + " definition of HP:0034590 (Abnormal circulating thyroxine-binding globulin concentration)\n", + " \n", + " \n", + " Verrucous epidermal nevus\n", + " definition of HP:0034275 (Verrucous epidermal nevus)\n", + " \n", + " \n", + " A type of epidermal nevus (which represent Blaschkoid hamartomas of the skin that result from mosaic post-zygotic mutations) that appears as skin-colored-to-brown, sharply demarcated, papillomatous papules that coalesce into plaques. The majority of these nevi are either present at birth or occur within the first year of life.\n", + " definition of HP:0034275 (Verrucous epidermal nevus)\n", + " \n", + " \n", + " Fixed elbow flexion\n", + " definition of HP:0006471 (Fixed elbow flexion)\n", + " \n", + " \n", + " Refractory anemia with ringed sideroblasts\n", + " definition of HP:0004828 (Refractory anemia with ringed sideroblasts)\n", + " \n", + " \n", + " A type of myelodysplastic syndrome characterized by less than 5% myeloblasts in the bone marrow, but with 15% or greater red cell precursors in the marrow being abnormal iron-stuffed cells called ringed sideroblasts.\n", + " definition of HP:0004828 (Refractory anemia with ringed sideroblasts)\n", + " \n", + " \n", + " #Myelodysplasia with sideroblastosis #Refractory anaemia with ringed sideroblasts\n", + " definition of HP:0004828 (Refractory anemia with ringed sideroblasts)\n", + " \n", + " \n", + " Large joint predominance\n", + " definition of HP:6000110 (Large joint predominance)\n", + " \n", + " \n", + " Refers to a phenotypic abnormality that mainly affect large joints.\n", + " definition of HP:6000110 (Large joint predominance)\n", + " \n", + " \n", + " Spleen hamartoma\n", + " definition of HP:4000106 (Spleen hamartoma)\n", + " \n", + " \n", + " A hamartomatous lesion (benign focal lesions composed of disorganized tissue elements) localized in the spleen.\n", + " definition of HP:4000106 (Spleen hamartoma)\n", + " \n", + " \n", + " Elevated circulating biotinidase concentration\n", + " definition of HP:0410146 (Elevated circulating biotinidase concentration)\n", + " \n", + " \n", + " Concentration of biotinidase in the blood circulation above the upper limit of normal. Biotidinase is an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation.\n", + " definition of HP:0410146 (Elevated circulating biotinidase concentration)\n", + " \n", + " \n", + " #Increased biotinidase level\n", + " definition of HP:0410146 (Elevated circulating biotinidase concentration)\n", + " \n", + " \n", + " Progressive forgetfulness\n", + " definition of HP:0007017 (Progressive forgetfulness)\n", + " \n", + " \n", + " Purulent rhinitis\n", + " definition of HP:0040334 (Purulent rhinitis)\n", + " \n", + " \n", + " Chronic rhinitis accompanied by pus formation.\n", + " definition of HP:0040334 (Purulent rhinitis)\n", + " \n", + " \n", + " Perivascular fibrosis\n", + " definition of HP:0032200 (Perivascular fibrosis)\n", + " \n", + " \n", + " The presence of thick collagen bundles around blood vessels, often in an onion-skin type whorling pattern.\n", + " definition of HP:0032200 (Perivascular fibrosis)\n", + " \n", + " \n", + " Paradoxical splitting of the second heart sound\n", + " definition of HP:0031663 (Paradoxical splitting of the second heart sound)\n", + " \n", + " \n", + " Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration. With paradoxical splitting, there is a delay in the closure of the aortic valve, so that A2 can follow P2; the individual components can be appreciated at the end of expiration and the interval narrows with inspiration (which is the opposite of the normal pattern).\n", + " definition of HP:0031663 (Paradoxical splitting of the second heart sound)\n", + " \n", + " \n", + " #Paradoxical splitting of S2 #Reversed splitting of S2 #Reversed splitting of the second heart sound\n", + " definition of HP:0031663 (Paradoxical splitting of the second heart sound)\n", + " \n", + " \n", + " Dandy-Walker malformation\n", + " definition of HP:0001305 (Dandy-Walker malformation)\n", + " \n", + " \n", + " A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal.\n", + " definition of HP:0001305 (Dandy-Walker malformation)\n", + " \n", + " \n", + " #Dandy-walker anomaly #Dandy-Walker cyst\n", + " definition of HP:0001305 (Dandy-Walker malformation)\n", + " \n", + " \n", + " Pulmonary hypertensive crisis\n", + " definition of HP:0033352 (Pulmonary hypertensive crisis)\n", + " \n", + " \n", + " Pulmonary hypertensive crisis involves sudden and potentially lethal increases in PAP and PVR that cause acute rise in right atrial and right ventricular end-diastolic pressure accompanied by low cardiac output.\n", + " definition of HP:0033352 (Pulmonary hypertensive crisis)\n", + " \n", + " \n", + " #Pulmonary arterial hypertension crisis\n", + " definition of HP:0033352 (Pulmonary hypertensive crisis)\n", + " \n", + " \n", + " Intestinal hemangioma\n", + " definition of HP:0410267 (Intestinal hemangioma)\n", + " \n", + " \n", + " A hemangioma, a benign tumor of the vascular endothelial cells, located in the intestines, which includes the bowel.\n", + " definition of HP:0410267 (Intestinal hemangioma)\n", + " \n", + " \n", + " #Bowel hemangioma #Intestinal hemangiomas\n", + " definition of HP:0410267 (Intestinal hemangioma)\n", + " \n", + " \n", + " Foveal hemorrhage\n", + " definition of HP:0025581 (Foveal hemorrhage)\n", + " \n", + " \n", + " Bleeding occurring within the fovea.\n", + " definition of HP:0025581 (Foveal hemorrhage)\n", + " \n", + " \n", + " #Foveal haemorrhage\n", + " definition of HP:0025581 (Foveal hemorrhage)\n", + " \n", + " \n", + " Decreased circulating thyrotropin releasing hormone concentration\n", + " definition of HP:0034904 (Decreased circulating thyrotropin releasing hormone concentration)\n", + " \n", + " \n", + " Concentration of thyrotropin releasing hormone below the lower limit of normal in the blood circulation.\n", + " definition of HP:0034904 (Decreased circulating thyrotropin releasing hormone concentration)\n", + " \n", + " \n", + " #Decreased circulating TRH concentration #Thyrotropin releasing hormone (TRH) low in blood\n", + " definition of HP:0034904 (Decreased circulating thyrotropin releasing hormone concentration)\n", + " \n", + " \n", + " Perimembranous ventricular septal defect\n", + " definition of HP:0011682 (Perimembranous ventricular septal defect)\n", + " \n", + " \n", + " A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs.\n", + " definition of HP:0011682 (Perimembranous ventricular septal defect)\n", + " \n", + " \n", + " #Conoventricular ventricular septal defect #Membranous ventricular septal defect #Paramembranous ventricular septal defect #Perimembraneous ventricular septal defect #Type 2 ventricular septal defect\n", + " definition of HP:0011682 (Perimembranous ventricular septal defect)\n", + " \n", + " \n", + " Abnormal finger phalanx morphology\n", + " definition of HP:0005918 (Abnormal finger phalanx morphology)\n", + " \n", + " \n", + " Abnormalities affecting the phalanx of finger.\n", + " definition of HP:0005918 (Abnormal finger phalanx morphology)\n", + " \n", + " \n", + " #Abnormal form of phalanges of the hand #Abnormality of phalanx of finger #Abnormality of the finger bones #Abnormality of the phalanges #Abnormality of the phalanges of the hand\n", + " definition of HP:0005918 (Abnormal finger phalanx morphology)\n", + " \n", + " \n", + " Febrile status epilepticus\n", + " definition of HP:0032656 (Febrile status epilepticus)\n", + " \n", + " \n", + " A seizure lasting 30 minutes without fully regaining consciousness, provoked by fever (temperature greater than 38.0 degrees Celcius) at the time of seizure-onset, without a prior history of afebrile seizure and with no evidence of an acute central nervous system infection or insult.\n", + " definition of HP:0032656 (Febrile status epilepticus)\n", + " \n", + " \n", + " #Fever-induced status epilepticus\n", + " definition of HP:0032656 (Febrile status epilepticus)\n", + " \n", + " \n", + " Abnormal amyloid beta 40 peptide CSF concentration\n", + " definition of HP:0025686 (Abnormal amyloid beta 40 peptide CSF concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). Amyloid beta is a peptide of 36-43 amino acids that is processed from the Amyloid precursor protein. ABeta40, which is 40 amino acids in length, is the shorter form.\n", + " definition of HP:0025686 (Abnormal amyloid beta 40 peptide CSF concentration)\n", + " \n", + " \n", + " #Abnormal Abeta 40 level #Abnormal beta amyloid 40 level\n", + " definition of HP:0025686 (Abnormal amyloid beta 40 peptide CSF concentration)\n", + " \n", + " \n", + " Hamartomatous polyposis\n", + " definition of HP:0004390 (Hamartomatous polyposis)\n", + " \n", + " \n", + " Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestinal tract. Hamartomatous polyps are composed of the normal cellular elements of the gastrointestinal tract, but have a markedly distorted architecture.\n", + " definition of HP:0004390 (Hamartomatous polyposis)\n", + " \n", + " \n", + " #Gastrointestinal hamartoma #Hamartomatous polyps\n", + " definition of HP:0004390 (Hamartomatous polyposis)\n", + " \n", + " \n", + " Broad distal phalanx of the thumb\n", + " definition of HP:0009642 (Broad distal phalanx of the thumb)\n", + " \n", + " \n", + " Increased width of the distal phalanx of thumb.\n", + " definition of HP:0009642 (Broad distal phalanx of the thumb)\n", + " \n", + " \n", + " #Broad outermost bone of the thumb #Broad terminal thumb phalanx #Wide distal phalanx of thumb #Wide outermost bone of thumb\n", + " definition of HP:0009642 (Broad distal phalanx of the thumb)\n", + " \n", + " \n", + " Progressive distal muscular atrophy\n", + " definition of HP:0008955 (Progressive distal muscular atrophy)\n", + " \n", + " \n", + " Progressive muscular atrophy affecting muscles in the distal portions of the extremities.\n", + " definition of HP:0008955 (Progressive distal muscular atrophy)\n", + " \n", + " \n", + " Reduced succinyl-CoA:3-oxoacid-CoA transferase activity in cultured fibroblasts\n", + " definition of HP:6000361 (Reduced succinyl-CoA:3-oxoacid-CoA transferase activity in cultured fibroblasts)\n", + " \n", + " \n", + " Activity of succinyl-CoA:3-oxoacid-CoA transferase (SCOT, or OXCT1; EC 2.8.3.5) below the lower limit of normal in cultured fibroblasts.\n", + " definition of HP:6000361 (Reduced succinyl-CoA:3-oxoacid-CoA transferase activity in cultured fibroblasts)\n", + " \n", + " \n", + " Generalized-onset seizure\n", + " definition of HP:0002197 (Generalized-onset seizure)\n", + " \n", + " \n", + " A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex.\n", + " definition of HP:0002197 (Generalized-onset seizure)\n", + " \n", + " \n", + " #Generalised onset seizure #Generalised seizures #Generalised-onset seizure #Generalized onset seizure #Generalized seizures #Generalized-onset seizures #Primary generalised seizure #Primary generalized seizure\n", + " definition of HP:0002197 (Generalized-onset seizure)\n", + " \n", + " \n", + " Aplasia of lymphatic vessels\n", + " definition of HP:0045006 (Aplasia of lymphatic vessels)\n", + " \n", + " \n", + " Aplasia (absence) of the lymphatic vessels.\n", + " definition of HP:0045006 (Aplasia of lymphatic vessels)\n", + " \n", + " \n", + " #Absent lymphatic vessels\n", + " definition of HP:0045006 (Aplasia of lymphatic vessels)\n", + " \n", + " \n", + " Persistent fetal circulation\n", + " definition of HP:0011726 (Persistent fetal circulation)\n", + " \n", + " \n", + " Systemic desaturation of a liveborn baby resulting from persistent pulmonary hypertension with a patent ductus arteriosus and patent foramen ovale, such that the circulation in postnatal life follows the fetal course.\n", + " definition of HP:0011726 (Persistent fetal circulation)\n", + " \n", + " \n", + " #Persistent foetal circulation\n", + " definition of HP:0011726 (Persistent fetal circulation)\n", + " \n", + " \n", + " Urachal cyst\n", + " definition of HP:0012618 (Urachal cyst)\n", + " \n", + " \n", + " A cyst located along the allantois canal.\n", + " definition of HP:0012618 (Urachal cyst)\n", + " \n", + " \n", + " Increased total hemolytic complement activity\n", + " definition of HP:0031905 (Increased total hemolytic complement activity)\n", + " \n", + " \n", + " An abnormally elevated total hemolytic complement activity in the circulation.\n", + " definition of HP:0031905 (Increased total hemolytic complement activity)\n", + " \n", + " \n", + " Protrusio acetabuli\n", + " definition of HP:0003179 (Protrusio acetabuli)\n", + " \n", + " \n", + " Intrapelvic bulging of the medial acetabular wall.\n", + " definition of HP:0003179 (Protrusio acetabuli)\n", + " \n", + " \n", + " #Abnormally indented hip sockets #Acetabular protrusion #Protrusio acetabulae\n", + " definition of HP:0003179 (Protrusio acetabuli)\n", + " \n", + " \n", + " Granuloma\n", + " definition of HP:0032252 (Granuloma)\n", + " \n", + " \n", + " A compact, organized collection of mature mononuclear phagocytes, which may be but is not necessarily accompanied by accessory features such as necrosis.\n", + " definition of HP:0032252 (Granuloma)\n", + " \n", + " \n", + " Anti-H3-H4 antibody positivity\n", + " definition of HP:0033592 (Anti-H3-H4 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies in the blood circulation that react against the H3-H4 histone dimer.\n", + " definition of HP:0033592 (Anti-H3-H4 antibody positivity)\n", + " \n", + " \n", + " Decreased methionine synthase activity\n", + " definition of HP:0003524 (Decreased methionine synthase activity)\n", + " \n", + " \n", + " A reduction in methionine synthase activity.\n", + " definition of HP:0003524 (Decreased methionine synthase activity)\n", + " \n", + " \n", + " #Decreased activity of methionine synthase #Methionine synthase activity decreased #Methionine synthase deficiency #Reduced methionine synthase activity\n", + " definition of HP:0003524 (Decreased methionine synthase activity)\n", + " \n", + " \n", + " Insulin-resistant diabetes mellitus at puberty\n", + " definition of HP:0000877 (Insulin-resistant diabetes mellitus at puberty)\n", + " \n", + " \n", + " #Insulin-resistant diabetes mellitus at puberty\n", + " definition of HP:0000877 (Insulin-resistant diabetes mellitus at puberty)\n", + " \n", + " \n", + " Abnormal brain positron emission tomography\n", + " definition of HP:0012657 (Abnormal brain positron emission tomography)\n", + " \n", + " \n", + " A functional brain anomaly detectable by positron emission tomography (PET). PET scanning is a method for functional brain imaging, and its measurements reflect the amount of brain activity in the various regions of the brain.\n", + " definition of HP:0012657 (Abnormal brain positron emission tomography)\n", + " \n", + " \n", + " #Abnormal brain PET scan\n", + " definition of HP:0012657 (Abnormal brain positron emission tomography)\n", + " \n", + " \n", + " Bracket epiphyses of the 4th toe\n", + " definition of HP:0100067 (Bracket epiphyses of the 4th toe)\n", + " \n", + " \n", + " #Bracket shaped end part of 4th toe bone\n", + " definition of HP:0100067 (Bracket epiphyses of the 4th toe)\n", + " \n", + " \n", + " Broad distal phalanges of all fingers\n", + " definition of HP:0009880 (Broad distal phalanges of all fingers)\n", + " \n", + " \n", + " Abnormally wide (broad) distal phalanx of finger of all fingers.\n", + " definition of HP:0009880 (Broad distal phalanges of all fingers)\n", + " \n", + " \n", + " #Broad outermost hand bones\n", + " definition of HP:0009880 (Broad distal phalanges of all fingers)\n", + " \n", + " \n", + " Increased muscle glycogen content\n", + " definition of HP:0009051 (Increased muscle glycogen content)\n", + " \n", + " \n", + " An increased amount of glycogen in muscle tissue.\n", + " definition of HP:0009051 (Increased muscle glycogen content)\n", + " \n", + " \n", + " Myositis\n", + " definition of HP:0100614 (Myositis)\n", + " \n", + " \n", + " A general term for inflammation of the muscles without respect to the underlying cause.\n", + " definition of HP:0100614 (Myositis)\n", + " \n", + " \n", + " #Muscle inflammation\n", + " definition of HP:0100614 (Myositis)\n", + " \n", + " \n", + " Glomerular endotheliosis\n", + " definition of HP:0033274 (Glomerular endotheliosis)\n", + " \n", + " \n", + " Enlargement of glomerular endothelial cells by cytoplasmic swelling with resulting partial or complete occlusion of the lumen.\n", + " definition of HP:0033274 (Glomerular endotheliosis)\n", + " \n", + " \n", + " Biliary tract abnormality\n", + " definition of HP:0001080 (Biliary tract abnormality)\n", + " \n", + " \n", + " An abnormality of the biliary tree.\n", + " definition of HP:0001080 (Biliary tract abnormality)\n", + " \n", + " \n", + " Anti-coagulation factor antibody positivity\n", + " definition of HP:6000351 (Anti-coagulation factor antibody positivity)\n", + " \n", + " \n", + " The presence of an antibody in the blood circulation that is directed against a coagulation factor.\n", + " definition of HP:6000351 (Anti-coagulation factor antibody positivity)\n", + " \n", + " \n", + " Follicular infundibulum tumor\n", + " definition of HP:0031548 (Follicular infundibulum tumor)\n", + " \n", + " \n", + " A cutaneous adnexal neoplasm with variable clinical presentation. It tends to be located in the head and neck and the presentation is papulonodular, scaly, asymptomatic, measuring up to 1-2cm, simulating a basal cell carcinoma.\n", + " definition of HP:0031548 (Follicular infundibulum tumor)\n", + " \n", + " \n", + " #Basal cell hamartoma with follicular differentiation #Follicular infundibulum tumour\n", + " definition of HP:0031548 (Follicular infundibulum tumor)\n", + " \n", + " \n", + " Slow-growing scalp hair\n", + " definition of HP:0100038 (Slow-growing scalp hair)\n", + " \n", + " \n", + " Scalp hair whose growth is slower than normal.\n", + " definition of HP:0100038 (Slow-growing scalp hair)\n", + " \n", + " \n", + " #Slow-growing scalp hair\n", + " definition of HP:0100038 (Slow-growing scalp hair)\n", + " \n", + " \n", + " 1-3 finger cutaneous syndactyly\n", + " definition of HP:0010706 (1-3 finger cutaneous syndactyly)\n", + " \n", + " \n", + " A soft tissue continuity in the anteroposterior axis between the thumb to the middle finger that extends distally to at least the level of the proximal interphalangeal joints.\n", + " definition of HP:0010706 (1-3 finger cutaneous syndactyly)\n", + " \n", + " \n", + " #Webbed 1st-3rd finger\n", + " definition of HP:0010706 (1-3 finger cutaneous syndactyly)\n", + " \n", + " \n", + " Elevated circulating luteinizing hormone level\n", + " definition of HP:0011969 (Elevated circulating luteinizing hormone level)\n", + " \n", + " \n", + " An elevated concentration of luteinizing hormone in the blood.\n", + " definition of HP:0011969 (Elevated circulating luteinizing hormone level)\n", + " \n", + " \n", + " #Elevated LH level #Elevated luteinizing hormone #Increased circulating luteinizing hormone level\n", + " definition of HP:0011969 (Elevated circulating luteinizing hormone level)\n", + " \n", + " \n", + " Abnormal proportion of naive CD4 T cells\n", + " definition of HP:0410373 (Abnormal proportion of naive CD4 T cells)\n", + " \n", + " \n", + " Any abnormality in the proportion of naive CD4 T cells relative to the total number of T cells.\n", + " definition of HP:0410373 (Abnormal proportion of naive CD4 T cells)\n", + " \n", + " \n", + " #Abnormal proportion of CD4+CD45RA+ cells #Abnormal proportion of naive thymus-derived CD4-positive, alpha-beta T cells\n", + " definition of HP:0410373 (Abnormal proportion of naive CD4 T cells)\n", + " \n", + " \n", + " Anti-aminoacyl-tRNA synthetase antibody positivity\n", + " definition of HP:0034147 (Anti-aminoacyl-tRNA synthetase antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a tRNA synthetase enzyme.\n", + " definition of HP:0034147 (Anti-aminoacyl-tRNA synthetase antibody positivity)\n", + " \n", + " \n", + " Polyuria\n", + " definition of HP:0000103 (Polyuria)\n", + " \n", + " \n", + " An increased rate of urine production.\n", + " definition of HP:0000103 (Polyuria)\n", + " \n", + " \n", + " #Increased urine output\n", + " definition of HP:0000103 (Polyuria)\n", + " \n", + " \n", + " Primary microcephaly\n", + " definition of HP:0011451 (Primary microcephaly)\n", + " \n", + " \n", + " Head circumference below 2 standard deviations below the mean for age and gender at birth.\n", + " definition of HP:0011451 (Primary microcephaly)\n", + " \n", + " \n", + " #Congenital decreased head circumference #Congenital microcephaly #Congenital small skull #Decreased head circumference present at birth #Microcephaly present at birth #Small cranium present at birth\n", + " definition of HP:0011451 (Primary microcephaly)\n", + " \n", + " \n", + " Renal steatosis\n", + " definition of HP:0000799 (Renal steatosis)\n", + " \n", + " \n", + " Abnormal fat accumulation in the kidneys.\n", + " definition of HP:0000799 (Renal steatosis)\n", + " \n", + " \n", + " #Fatty kidney\n", + " definition of HP:0000799 (Renal steatosis)\n", + " \n", + " \n", + " Abnormality of the submandibular glands\n", + " definition of HP:0010287 (Abnormality of the submandibular glands)\n", + " \n", + " \n", + " Any abnormality of the submandibular glands, which are the salivary glands that are located beneath the floor of the mouth, superior to the digastric muscles.\n", + " definition of HP:0010287 (Abnormality of the submandibular glands)\n", + " \n", + " \n", + " #Abnormality of the submaxillary glands\n", + " definition of HP:0010287 (Abnormality of the submandibular glands)\n", + " \n", + " \n", + " Atrial flutter\n", + " definition of HP:0004749 (Atrial flutter)\n", + " \n", + " \n", + " A type of atrial arrhythmia characterized by atrial rates of between 240 and 400 beats per minute and some degree of atrioventricular node conduction block. Typically, the ventricular rate is half the atrial rate. In the EKG; atrial flutter waves are observed as sawtooth-like atrial activity. Pathophysiologically, atrial flutter is a form of atrial reentry in which there is a premature electrical impulse creates a self-propagating circuit.\n", + " definition of HP:0004749 (Atrial flutter)\n", + " \n", + " \n", + " Small intestinal adenoma\n", + " definition of HP:6001040 (Small intestinal adenoma)\n", + " \n", + " \n", + " A small bowel tumor with adenomatous epithelium.\n", + " definition of HP:6001040 (Small intestinal adenoma)\n", + " \n", + " \n", + " Decreased circulating complement C6 concentration\n", + " definition of HP:0033059 (Decreased circulating complement C6 concentration)\n", + " \n", + " \n", + " Concentration of the complement component C6 in the blood circulation below the lower limit of normal.\n", + " definition of HP:0033059 (Decreased circulating complement C6 concentration)\n", + " \n", + " \n", + " EEG with central focal spike waves\n", + " definition of HP:0012009 (EEG with central focal spike waves)\n", + " \n", + " \n", + " EEG with focal sharp transient waves in the central region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.\n", + " definition of HP:0012009 (EEG with central focal spike waves)\n", + " \n", + " \n", + " Chondrosarcoma\n", + " definition of HP:0006765 (Chondrosarcoma)\n", + " \n", + " \n", + " A slowly growing malignant neoplasm derived from cartilage cells.\n", + " definition of HP:0006765 (Chondrosarcoma)\n", + " \n", + " \n", + " Vascular hamartoma\n", + " definition of HP:0032579 (Vascular hamartoma)\n", + " \n", + " \n", + " A benign focal growth composed of vascular tissue.\n", + " definition of HP:0032579 (Vascular hamartoma)\n", + " \n", + " \n", + " Increased circulating 18-hydroxycortisone level\n", + " definition of HP:0020200 (Increased circulating 18-hydroxycortisone level)\n", + " \n", + " \n", + " An abnormally elevated concentration of 18-Hydroxycorticosterone level in the blood circulation.\n", + " definition of HP:0020200 (Increased circulating 18-hydroxycortisone level)\n", + " \n", + " \n", + " Neurogenic strabismus\n", + " definition of HP:0031775 (Neurogenic strabismus)\n", + " \n", + " \n", + " An ocular deviation caused by a palsy to one or more of the extraocular muscles or nerves supplying them.\n", + " definition of HP:0031775 (Neurogenic strabismus)\n", + " \n", + " \n", + " #Paralytic strabismus\n", + " definition of HP:0031775 (Neurogenic strabismus)\n", + " \n", + " \n", + " Intermediate young adult onset\n", + " definition of HP:0025709 (Intermediate young adult onset)\n", + " \n", + " \n", + " Onset of disease at an age of greater than or equal to 19 to under 25 years.\n", + " definition of HP:0025709 (Intermediate young adult onset)\n", + " \n", + " \n", + " Notched primary central incisor\n", + " definition of HP:0012413 (Notched primary central incisor)\n", + " \n", + " \n", + " The presence of a V-shaped indentation (notch) in the primary central incisor.\n", + " definition of HP:0012413 (Notched primary central incisor)\n", + " \n", + " \n", + " #Notched front baby tooth #Notched front deciduous tooth #Notched front primary tooth #Syphilitic primary incisor\n", + " definition of HP:0012413 (Notched primary central incisor)\n", + " \n", + " \n", + " Abnormality of movement\n", + " definition of HP:0100022 (Abnormality of movement)\n", + " \n", + " \n", + " An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements.\n", + " definition of HP:0100022 (Abnormality of movement)\n", + " \n", + " \n", + " #Abnormality of movement #Movement disorder #Unusual movement\n", + " definition of HP:0100022 (Abnormality of movement)\n", + " \n", + " \n", + " Decreased circulating adenosylcobalamin concentration\n", + " definition of HP:0003145 (Decreased circulating adenosylcobalamin concentration)\n", + " \n", + " \n", + " The concentration of adenosylcobalam in the blood circulation is below the lower limit of normal. Adenosylcobalamin is one of the active forms of vitamin B12.\n", + " definition of HP:0003145 (Decreased circulating adenosylcobalamin concentration)\n", + " \n", + " \n", + " #Decreased ADOCBL\n", + " definition of HP:0003145 (Decreased circulating adenosylcobalamin concentration)\n", + " \n", + " \n", + " Folate-unresponsive megaloblastic anemia\n", + " definition of HP:0004826 (Folate-unresponsive megaloblastic anemia)\n", + " \n", + " \n", + " A type of megaloblastic anemia that does not improve upon administration of folate. Since vitamin B12 acts by promoting recycling of folate, administration of vitamin B12 also does not improve this type of anemia.\n", + " definition of HP:0004826 (Folate-unresponsive megaloblastic anemia)\n", + " \n", + " \n", + " #Folate-unresponsive megaloblastic anaemia\n", + " definition of HP:0004826 (Folate-unresponsive megaloblastic anemia)\n", + " \n", + " \n", + " Atypical gestures\n", + " definition of HP:0034481 (Atypical gestures)\n", + " \n", + " \n", + " Spontaneous production of communicative gestures that are perceived as odd or mechanical, or are poorly integrated with other means of communication. This may include inaccurate mimicry of typical gestures.\n", + " definition of HP:0034481 (Atypical gestures)\n", + " \n", + " \n", + " Molybdenum cofactor deficiency\n", + " definition of HP:0003570 (Molybdenum cofactor deficiency)\n", + " \n", + " \n", + " Absence of molybdenum cofactor(2-), a cofactor for enzymes including sulfite oxidase, xanthine oxidoreductase, and aldehyde oxidase.\n", + " definition of HP:0003570 (Molybdenum cofactor deficiency)\n", + " \n", + " \n", + " Nausea\n", + " definition of HP:0002018 (Nausea)\n", + " \n", + " \n", + " A sensation of unease in the stomach together with an urge to vomit.\n", + " definition of HP:0002018 (Nausea)\n", + " \n", + " \n", + " #Nausea\n", + " definition of HP:0002018 (Nausea)\n", + " \n", + " \n", + " Elevated circulating amyloid A concentration\n", + " definition of HP:0033332 (Elevated circulating amyloid A concentration)\n", + " \n", + " \n", + " The concentration of serum amyloid A in the blood circulation is above the upper limit of normal.\n", + " definition of HP:0033332 (Elevated circulating amyloid A concentration)\n", + " \n", + " \n", + " #Elevated circulating amyloid A\n", + " definition of HP:0033332 (Elevated circulating amyloid A concentration)\n", + " \n", + " \n", + " Downbeat nystagmus\n", + " definition of HP:0010545 (Downbeat nystagmus)\n", + " \n", + " \n", + " Downbeat nystagmus is a type of fixation nystagmus with the fast phase beating in a downward direction. It generally increases when looking to the side and down and when lying prone.\n", + " definition of HP:0010545 (Downbeat nystagmus)\n", + " \n", + " \n", + " Lenticonus\n", + " definition of HP:0001142 (Lenticonus)\n", + " \n", + " \n", + " A conical projection of the anterior or posterior surface of the lens, occurring as a developmental anomaly.\n", + " definition of HP:0001142 (Lenticonus)\n", + " \n", + " \n", + " Bifid sacrum\n", + " definition of HP:0009791 (Bifid sacrum)\n", + " \n", + " \n", + " Presence of a bifid sacral bone.\n", + " definition of HP:0009791 (Bifid sacrum)\n", + " \n", + " \n", + " Angiokeratoma circumscriptum naeviforme\n", + " definition of HP:0034410 (Angiokeratoma circumscriptum naeviforme)\n", + " \n", + " \n", + " A type of angiokeratoma that typically presents in childhood as a large, mostly linear and unilateral hyperkeratotic plaque which is composed of confluent keratotic papules. The size ranges from a few centimeters up to a major part of the body surface. Initially the lesions present as multiple reddish macules, clinically similar to a nevus flammeus. Within several years they develop into acanthokeratotic papules that agrregate into plaques which may have a hyperkeratotic surface.\n", + " definition of HP:0034410 (Angiokeratoma circumscriptum naeviforme)\n", + " \n", + " \n", + " Retinopathy of prematurity stage 4b\n", + " definition of HP:0500055 (Retinopathy of prematurity stage 4b)\n", + " \n", + " \n", + " A detachment that involves the peripheral retina that involves the macula itself. The detachment usually starts in the temporal periphery although can also involve the nasal retina as well.\n", + " definition of HP:0500055 (Retinopathy of prematurity stage 4b)\n", + " \n", + " \n", + " #ROP 4b\n", + " definition of HP:0500055 (Retinopathy of prematurity stage 4b)\n", + " \n", + " \n", + " Abnormal muscle fiber beta sarcoglycan\n", + " definition of HP:0030103 (Abnormal muscle fiber beta sarcoglycan)\n", + " \n", + " \n", + " Deviation from normal in the amount of beta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines.\n", + " definition of HP:0030103 (Abnormal muscle fiber beta sarcoglycan)\n", + " \n", + " \n", + " #Abnormal muscle fibre beta sarcoglycan\n", + " definition of HP:0030103 (Abnormal muscle fiber beta sarcoglycan)\n", + " \n", + " \n", + " Sensory behavioral abnormality\n", + " definition of HP:5200046 (Sensory behavioral abnormality)\n", + " \n", + " \n", + " Abnormal sensory behavior, including avoiding or seeking sensory input or difficulty modulating sensory stimuli.\n", + " definition of HP:5200046 (Sensory behavioral abnormality)\n", + " \n", + " \n", + " Abnormality of the incisor\n", + " definition of HP:0000676 (Abnormality of the incisor)\n", + " \n", + " \n", + " An abnormality of the Incisor tooth.\n", + " definition of HP:0000676 (Abnormality of the incisor)\n", + " \n", + " \n", + " Anti-erythrocyte autoantibody positivity\n", + " definition of HP:6000388 (Anti-erythrocyte autoantibody positivity)\n", + " \n", + " \n", + " The presence of an antibody in the blood circulation that is directed against an antigen on the surface of erythrocytes (red-blood cells).\n", + " definition of HP:6000388 (Anti-erythrocyte autoantibody positivity)\n", + " \n", + " \n", + " #Antierythrocyte autoantibody positivity\n", + " definition of HP:6000388 (Anti-erythrocyte autoantibody positivity)\n", + " \n", + " \n", + " Abnormal cardiac septum morphology\n", + " definition of HP:0001671 (Abnormal cardiac septum morphology)\n", + " \n", + " \n", + " An anomaly of the intra-atrial or intraventricular septum.\n", + " definition of HP:0001671 (Abnormal cardiac septum morphology)\n", + " \n", + " \n", + " #Abnormality of the cardiac septa #Heart septal defect #Septal defects\n", + " definition of HP:0001671 (Abnormal cardiac septum morphology)\n", + " \n", + " \n", + " Pointed humeral metaphysis\n", + " definition of HP:0003917 (Pointed humeral metaphysis)\n", + " \n", + " \n", + " #Pointed wide portion of long bone of upper arm\n", + " definition of HP:0003917 (Pointed humeral metaphysis)\n", + " \n", + " \n", + " Crescent-shaped iliac bone\n", + " definition of HP:6000653 (Crescent-shaped iliac bone)\n", + " \n", + " \n", + " Deficient mineralization of the iliac wings, giving a paraglider/crescent shape to the iliac bone.\n", + " definition of HP:6000653 (Crescent-shaped iliac bone)\n", + " \n", + " \n", + " #Crescent-shaped iliac wing #Paraglider shape iliac bone\n", + " definition of HP:6000653 (Crescent-shaped iliac bone)\n", + " \n", + " \n", + " Follicular hyperplasia\n", + " definition of HP:0002729 (Follicular hyperplasia)\n", + " \n", + " \n", + " Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers.\n", + " definition of HP:0002729 (Follicular hyperplasia)\n", + " \n", + " \n", + " Elevated erythrocyte sedimentation rate\n", + " definition of HP:0003565 (Elevated erythrocyte sedimentation rate)\n", + " \n", + " \n", + " An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen.\n", + " definition of HP:0003565 (Elevated erythrocyte sedimentation rate)\n", + " \n", + " \n", + " #Elevated ESR #Elevated sedimentation rate #High erythrocyte sedimentation rate #High ESR #Increased erythrocyte sedimentation rate #Raised erythrocyte sedimentation rate\n", + " definition of HP:0003565 (Elevated erythrocyte sedimentation rate)\n", + " \n", + " \n", + " Bilateral tonic-clonic seizure with generalized onset\n", + " definition of HP:0025190 (Bilateral tonic-clonic seizure with generalized onset)\n", + " \n", + " \n", + " A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterized by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure.\n", + " definition of HP:0025190 (Bilateral tonic-clonic seizure with generalized onset)\n", + " \n", + " \n", + " #Bilateral tonic-clonic seizure with generalised onset #Generalised tonic-clonic seizure without focal onset #Generalised tonic-clonic seizure without partial onset #Generalised tonic-clonic seizures without focal onset #Generalised-onset tonic-clonic seizure #Generalized tonic-clonic seizure without focal onset #Generalized tonic-clonic seizure without partial onset #Generalized tonic-clonic seizures without focal onset #Generalized-onset tonic-clonic seizure #Primarily generalised tonic-clonic seizures #Primarily generalized tonic-clonic seizures #Primary generalised tonic-clonic seizure #Primary generalised tonic-clonic seizures #Primary generalized tonic-clonic seizure #Primary generalized tonic-clonic seizures\n", + " definition of HP:0025190 (Bilateral tonic-clonic seizure with generalized onset)\n", + " \n", + " \n", + " Dilated vas deferens\n", + " definition of HP:0034478 (Dilated vas deferens)\n", + " \n", + " \n", + " Abnormal increase in diameter (expansion) of the vas deferens.\n", + " definition of HP:0034478 (Dilated vas deferens)\n", + " \n", + " \n", + " #Vas deferens dilated\n", + " definition of HP:0034478 (Dilated vas deferens)\n", + " \n", + " \n", + " Hyperpigmented nodule\n", + " definition of HP:0025529 (Hyperpigmented nodule)\n", + " \n", + " \n", + " A nodule of the skin that exhibits an increased amount of pigmentation.\n", + " definition of HP:0025529 (Hyperpigmented nodule)\n", + " \n", + " \n", + " Reduced heparan-alpha-glucosaminide N-acetyltransferase activity in cultured fibroblasts\n", + " definition of HP:4000196 (Reduced heparan-alpha-glucosaminide N-acetyltransferase activity in cultured fibroblasts)\n", + " \n", + " \n", + " Concentration or activity of N-sulfoglucosamine sulfohydrolase as measured in cultured fibroblasts is below the limits of normal.\n", + " definition of HP:4000196 (Reduced heparan-alpha-glucosaminide N-acetyltransferase activity in cultured fibroblasts)\n", + " \n", + " \n", + " Hypoplastic trochlear nerve\n", + " definition of HP:0034965 (Hypoplastic trochlear nerve)\n", + " \n", + " \n", + " Underdevelopment of the trochlear nerve, which is the fourth cranial nerve and one of the ocular motor nerves that controls eye movement.\n", + " definition of HP:0034965 (Hypoplastic trochlear nerve)\n", + " \n", + " \n", + " #Hypoplasia of cranial nerve IV\n", + " definition of HP:0034965 (Hypoplastic trochlear nerve)\n", + " \n", + " \n", + " Nutrition history\n", + " definition of HP:4000123 (Nutrition history)\n", + " \n", + " \n", + " A part of the past medical history consisting of information about the typical food intake of an individual.\n", + " definition of HP:4000123 (Nutrition history)\n", + " \n", + " \n", + " Lower extremity subcutanous fat hypertrophy\n", + " definition of HP:0031451 (Lower extremity subcutanous fat hypertrophy)\n", + " \n", + " \n", + " An abnormal increase in the amount of subcutaneous fat in the legs.\n", + " definition of HP:0031451 (Lower extremity subcutanous fat hypertrophy)\n", + " \n", + " \n", + " Subcutaneous emphysema\n", + " definition of HP:6001021 (Subcutaneous emphysema)\n", + " \n", + " \n", + " Skin emphysema/Subcutaneous emphysema occurs when gas or air accumulates and seeps under the skin, where normally no gas should be present. While the presence of air in subcutaneous or mediastinal tissue is not dangerous in itself, prompt recognition of the underlying cause is essential.\n", + " definition of HP:6001021 (Subcutaneous emphysema)\n", + " \n", + " \n", + " #Skin emphysema\n", + " definition of HP:6001021 (Subcutaneous emphysema)\n", + " \n", + " \n", + " Adrenal xanthomatosis\n", + " definition of HP:0034622 (Adrenal xanthomatosis)\n", + " \n", + " \n", + " Lipid deposits localized within the adrenal gland. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia.\n", + " definition of HP:0034622 (Adrenal xanthomatosis)\n", + " \n", + " \n", + " #Adrenal xanthomas\n", + " definition of HP:0034622 (Adrenal xanthomatosis)\n", + " \n", + " \n", + " Enlarged epiphyses of the 3rd toe\n", + " definition of HP:0100058 (Enlarged epiphyses of the 3rd toe)\n", + " \n", + " \n", + " #Enlarged end part of the 3rd toe bone\n", + " definition of HP:0100058 (Enlarged epiphyses of the 3rd toe)\n", + " \n", + " \n", + " Abnormal left ventricular end-diastolic volume\n", + " definition of HP:0033754 (Abnormal left ventricular end-diastolic volume)\n", + " \n", + " \n", + " Any deviation from the normal range of end-diastolic volume of the left ventricle, which is the volume of blood in the left ventricle at the end of diastole (just before systole).\n", + " definition of HP:0033754 (Abnormal left ventricular end-diastolic volume)\n", + " \n", + " \n", + " Abnormality of the peripheral nervous system\n", + " definition of HP:0410008 (Abnormality of the peripheral nervous system)\n", + " \n", + " \n", + " Any abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord.\n", + " definition of HP:0410008 (Abnormality of the peripheral nervous system)\n", + " \n", + " \n", + " #Abnormality of the peripheral nervous system\n", + " definition of HP:0410008 (Abnormality of the peripheral nervous system)\n", + " \n", + " \n", + " Generalized cerebral atrophy/hypoplasia\n", + " definition of HP:0007058 (Generalized cerebral atrophy/hypoplasia)\n", + " \n", + " \n", + " Generalized atrophy or hypoplasia of the cerebrum.\n", + " definition of HP:0007058 (Generalized cerebral atrophy/hypoplasia)\n", + " \n", + " \n", + " #Generalised cerebral atrophy/hypoplasia #Generalised cerebral degeneration/underdevelopment #Generalized cerebral degeneration/underdevelopment\n", + " definition of HP:0007058 (Generalized cerebral atrophy/hypoplasia)\n", + " \n", + " \n", + " Localized epidermolytic hyperkeratosis\n", + " definition of HP:0007559 (Localized epidermolytic hyperkeratosis)\n", + " \n", + " \n", + " #Localised epidermolytic hyperkeratosis\n", + " definition of HP:0007559 (Localized epidermolytic hyperkeratosis)\n", + " \n", + " \n", + " 1-minute APGAR score of 3\n", + " definition of HP:0030930 (1-minute APGAR score of 3)\n", + " \n", + " \n", + " Abnormal renal corpuscle morphology\n", + " definition of HP:0031263 (Abnormal renal corpuscle morphology)\n", + " \n", + " \n", + " Any anomalous structure of the renal corpuscle, which is the initial component of the nephron that filters blood. The renal corpuscle consists of a knot of capillaries (glomerulus) that is surrounded by a double-walled capsule (Bowman capsule) that opens into a renal tubule.\n", + " definition of HP:0031263 (Abnormal renal corpuscle morphology)\n", + " \n", + " \n", + " Sloping humeral metaphysis\n", + " definition of HP:0003920 (Sloping humeral metaphysis)\n", + " \n", + " \n", + " #Sloping metaphysis of long bone of upper arm\n", + " definition of HP:0003920 (Sloping humeral metaphysis)\n", + " \n", + " \n", + " Scapulohumeral muscular dystrophy\n", + " definition of HP:0008970 (Scapulohumeral muscular dystrophy)\n", + " \n", + " \n", + " Episodic hypersomnia\n", + " definition of HP:0007200 (Episodic hypersomnia)\n", + " \n", + " \n", + " Recurrent episodes of severe hypersomnia are accompanied by cognitive and behavioral disturbances, including confusion, derealization, apathy, compulsive eating, and hypersexuality.\n", + " definition of HP:0007200 (Episodic hypersomnia)\n", + " \n", + " \n", + " #Idiopathic hypersomnia #Recurrent hypersomnia\n", + " definition of HP:0007200 (Episodic hypersomnia)\n", + " \n", + " \n", + " Abnormal nephron morphology\n", + " definition of HP:0012575 (Abnormal nephron morphology)\n", + " \n", + " \n", + " A structural anomaly of the nephron.\n", + " definition of HP:0012575 (Abnormal nephron morphology)\n", + " \n", + " \n", + " #Abnormality of the nephron\n", + " definition of HP:0012575 (Abnormal nephron morphology)\n", + " \n", + " \n", + " Deficiency of N-acetylglucosamine-1-phosphotransferase\n", + " definition of HP:0003264 (Deficiency of N-acetylglucosamine-1-phosphotransferase)\n", + " \n", + " \n", + " Lower limb hyperreflexia\n", + " definition of HP:0002395 (Lower limb hyperreflexia)\n", + " \n", + " \n", + " #Brisk lower extremity reflexes #Hyperreflexia in lower limbs #Hyperreflexia in the lower limbs #Increased deep tendon reflexes in the lower limbs #Leg hyperreflexia #Overactive lower leg reflex\n", + " definition of HP:0002395 (Lower limb hyperreflexia)\n", + " \n", + " \n", + " Elevated urine octenedioic acid level\n", + " definition of HP:0034652 (Elevated urine octenedioic acid level)\n", + " \n", + " \n", + " The concentration of octenedioic acid in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:0034652 (Elevated urine octenedioic acid level)\n", + " \n", + " \n", + " #Octenedioic acid high in urine\n", + " definition of HP:0034652 (Elevated urine octenedioic acid level)\n", + " \n", + " \n", + " Curved proximal phalanx of the 5th finger\n", + " definition of HP:0009229 (Curved proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " Curved appearance of the proximal phalanx of the 5th finger.\n", + " definition of HP:0009229 (Curved proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " #Curved innermost bone of little finger #Curved innermost bone of pinkie finger #Curved innermost bone of pinky finger\n", + " definition of HP:0009229 (Curved proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " Abnormality of glycosaminoglycan metabolism\n", + " definition of HP:0004371 (Abnormality of glycosaminoglycan metabolism)\n", + " \n", + " \n", + " Abnormality of glycosaminoglycan metabolism.\n", + " definition of HP:0004371 (Abnormality of glycosaminoglycan metabolism)\n", + " \n", + " \n", + " Bilateral vocal cord paralysis\n", + " definition of HP:0012820 (Bilateral vocal cord paralysis)\n", + " \n", + " \n", + " A loss of the ability to move the vocal fold on both sides.\n", + " definition of HP:0012820 (Bilateral vocal cord paralysis)\n", + " \n", + " \n", + " Retinal calcification\n", + " definition of HP:0007862 (Retinal calcification)\n", + " \n", + " \n", + " Deposition of calcium salts in the retina.\n", + " definition of HP:0007862 (Retinal calcification)\n", + " \n", + " \n", + " Abnormality nasal septum cartilage morphology\n", + " definition of HP:3000034 (Abnormality nasal septum cartilage morphology)\n", + " \n", + " \n", + " An abnormality of a cartilage of nasal septum.\n", + " definition of HP:3000034 (Abnormality nasal septum cartilage morphology)\n", + " \n", + " \n", + " #Abnormality of cartilage of nasal septum #Abnormality of cartilage of septum of nose #Anomaly of cartilage of nasal septum\n", + " definition of HP:3000034 (Abnormality nasal septum cartilage morphology)\n", + " \n", + " \n", + " Cervical vertebral bodies with decreased anteroposterior diameter\n", + " definition of HP:0008483 (Cervical vertebral bodies with decreased anteroposterior diameter)\n", + " \n", + " \n", + " Increased HDL3c concentration\n", + " definition of HP:0032432 (Increased HDL3c concentration)\n", + " \n", + " \n", + " An elevation above the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm.\n", + " definition of HP:0032432 (Increased HDL3c concentration)\n", + " \n", + " \n", + " Scrotal pain\n", + " definition of HP:0030155 (Scrotal pain)\n", + " \n", + " \n", + " An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the scrotum.\n", + " definition of HP:0030155 (Scrotal pain)\n", + " \n", + " \n", + " #Scrotal pain\n", + " definition of HP:0030155 (Scrotal pain)\n", + " \n", + " \n", + " Distal/middle symphalangism of 4th finger\n", + " definition of HP:0009305 (Distal/middle symphalangism of 4th finger)\n", + " \n", + " \n", + " Fusion of the terminal/distal and middle phalanges of the 4th finger.\n", + " definition of HP:0009305 (Distal/middle symphalangism of 4th finger)\n", + " \n", + " \n", + " #Fused outermost and middle bones of ring finger #Symphalangism of the distal and middle phalanges of the 4th finger\n", + " definition of HP:0009305 (Distal/middle symphalangism of 4th finger)\n", + " \n", + " \n", + " Increased phosphoribosylpyrophosphate synthetase level\n", + " definition of HP:0003240 (Increased phosphoribosylpyrophosphate synthetase level)\n", + " \n", + " \n", + " Abnormally elevated level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate.\n", + " definition of HP:0003240 (Increased phosphoribosylpyrophosphate synthetase level)\n", + " \n", + " \n", + " #Increased phosphoribosyl pyrophosphate synthetase activity #Increased PRPS1 activity\n", + " definition of HP:0003240 (Increased phosphoribosylpyrophosphate synthetase level)\n", + " \n", + " \n", + " Abnormality of coordination\n", + " definition of HP:0011443 (Abnormality of coordination)\n", + " \n", + " \n", + " #Abnormality of coordination #Coordination issue\n", + " definition of HP:0011443 (Abnormality of coordination)\n", + " \n", + " \n", + " Increased circulating oleate level\n", + " definition of HP:0025626 (Increased circulating oleate level)\n", + " \n", + " \n", + " An abnormally high concentration of oleic acid (oleate) in the blood circulation.\n", + " definition of HP:0025626 (Increased circulating oleate level)\n", + " \n", + " \n", + " Abnormal circulating interleukin 22 concentration\n", + " definition of HP:0034167 (Abnormal circulating interleukin 22 concentration)\n", + " \n", + " \n", + " Any deviation from the normal range of the concentration of interleukin 22 in the blood circulation.\n", + " definition of HP:0034167 (Abnormal circulating interleukin 22 concentration)\n", + " \n", + " \n", + " Triangular epiphysis of the distal phalanx of the 3rd finger\n", + " definition of HP:0009345 (Triangular epiphysis of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " A triangular appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.\n", + " definition of HP:0009345 (Triangular epiphysis of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Delta-shaped epiphysis of the distal phalanx of the 3rd finger #Triangular end part of the outermost long bone of the middle finger\n", + " definition of HP:0009345 (Triangular epiphysis of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Fetor hepaticus\n", + " definition of HP:0032142 (Fetor hepaticus)\n", + " \n", + " \n", + " Fetor hepaticus is the characteristic breath of patients with severe parenchymal liver disease, which has been said to resemble the odor of a mixture of rotten eggs and garlic.\n", + " definition of HP:0032142 (Fetor hepaticus)\n", + " \n", + " \n", + " #Foetor hepaticus\n", + " definition of HP:0032142 (Fetor hepaticus)\n", + " \n", + " \n", + " Left superior vena cava draining directly to the left atrium\n", + " definition of HP:0011669 (Left superior vena cava draining directly to the left atrium)\n", + " \n", + " \n", + " A persistent left superior vena cava (PLSVC) that drains into the left atrium instead of the right atrium via the coronary sinus, resulting in a right to left sided shunt.\n", + " definition of HP:0011669 (Left superior vena cava draining directly to the left atrium)\n", + " \n", + " \n", + " T-wave inversion in the right precordial leads\n", + " definition of HP:0003140 (T-wave inversion in the right precordial leads)\n", + " \n", + " \n", + " Triceps aplasia\n", + " definition of HP:0009785 (Triceps aplasia)\n", + " \n", + " \n", + " Absence of the triceps muscle.\n", + " definition of HP:0009785 (Triceps aplasia)\n", + " \n", + " \n", + " #Absent triceps\n", + " definition of HP:0009785 (Triceps aplasia)\n", + " \n", + " \n", + " Muscle fiber tubuloreticular inclusions\n", + " definition of HP:0100302 (Muscle fiber tubuloreticular inclusions)\n", + " \n", + " \n", + " #Muscle fiber tubuloreticular aggregates #Muscle fibre tubuloreticular aggregates #Muscle fibre tubuloreticular inclusions\n", + " definition of HP:0100302 (Muscle fiber tubuloreticular inclusions)\n", + " \n", + " \n", + " Focal autonomic seizure with erection\n", + " definition of HP:0032764 (Focal autonomic seizure with erection)\n", + " \n", + " \n", + " A type of focal autonomic seizure characterized by penile erection as the initial semiological feature.\n", + " definition of HP:0032764 (Focal autonomic seizure with erection)\n", + " \n", + " \n", + " Short phalanx of hallux\n", + " definition of HP:0010111 (Short phalanx of hallux)\n", + " \n", + " \n", + " Underdevelopment (hypoplasia) of a phalanx of big toe.\n", + " definition of HP:0010111 (Short phalanx of hallux)\n", + " \n", + " \n", + " #Hypoplastic phalanges of the hallux #Short bone of big toe\n", + " definition of HP:0010111 (Short phalanx of hallux)\n", + " \n", + " \n", + " Difficulty walking backward\n", + " definition of HP:0031847 (Difficulty walking backward)\n", + " \n", + " \n", + " Reduced ability to walk (ambulate) in a backwards direction.\n", + " definition of HP:0031847 (Difficulty walking backward)\n", + " \n", + " \n", + " Posterior plagiocephaly\n", + " definition of HP:0011327 (Posterior plagiocephaly)\n", + " \n", + " \n", + " Asymmetry of the posterior part of the skull.\n", + " definition of HP:0011327 (Posterior plagiocephaly)\n", + " \n", + " \n", + " #Deformational posterior plagiocephaly #Occipital plagiocephaly\n", + " definition of HP:0011327 (Posterior plagiocephaly)\n", + " \n", + " \n", + " Increased proportion of CD8-positive, alpha-beta TEMRA T cells\n", + " definition of HP:0500265 (Increased proportion of CD8-positive, alpha-beta TEMRA T cells)\n", + " \n", + " \n", + " An increased proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative.\n", + " definition of HP:0500265 (Increased proportion of CD8-positive, alpha-beta TEMRA T cells)\n", + " \n", + " \n", + " #Increased proportion of effector memory CD8-positive, alpha-beta T cells, terminally differentiated\n", + " definition of HP:0500265 (Increased proportion of CD8-positive, alpha-beta TEMRA T cells)\n", + " \n", + " \n", + " Pleomorphic xanthoastrocytoma\n", + " definition of HP:0033682 (Pleomorphic xanthoastrocytoma)\n", + " \n", + " \n", + " Pleomorphic xanthoastrocytomas (PXA) are rare low-grade astrocytomas (WHO Grade II) typically found in the temporal lobe and classically presenting with epilepsy. PXA is an astrocytic neoplasm that most often presents in children or young adults but can also occur in adults. The diagnosis of anaplastic PXA is made based upon tumor histopathologic characteristics and requires increased proliferative activity (mitotic index at least 5 mitoses/10 HPF), which is associated with worse overall survival. In general, anaplastic PXAs acquire features of a more aggressive astrocytic neoplasm that can include increased proliferation, necrosis, microvascular proliferation, loss of pericellular reticulin, and increased infiltrative growth.\n", + " definition of HP:0033682 (Pleomorphic xanthoastrocytoma)\n", + " \n", + " \n", + " Excessive guilt\n", + " definition of HP:6000011 (Excessive guilt)\n", + " \n", + " \n", + " Excessive guilt is an internal feeling that is intense and considered clinically to be beyond normal range, out of proportion for the act or offense; excessive guilt is typically based on an incorrect judgment of responsibility for an unfavorable outcome. Excessive guilt is typically pervasive and enduring, i.e. it is not fleeting or a temporary thought associated with a specific action.\n", + " definition of HP:6000011 (Excessive guilt)\n", + " \n", + " \n", + " Abnormal number of vertebrae\n", + " definition of HP:0030304 (Abnormal number of vertebrae)\n", + " \n", + " \n", + " A deviation from the normal number of vertebrae in the spinal column.\n", + " definition of HP:0030304 (Abnormal number of vertebrae)\n", + " \n", + " \n", + " Decreased proportion of effector memory CD8-positive, alpha-beta T cells\n", + " definition of HP:0410390 (Decreased proportion of effector memory CD8-positive, alpha-beta T cells)\n", + " \n", + " \n", + " A reduced proportion of CD8-positive, alpha-beta effector memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.\n", + " definition of HP:0410390 (Decreased proportion of effector memory CD8-positive, alpha-beta T cells)\n", + " \n", + " \n", + " Tracheal cartilaginous sleeve\n", + " definition of HP:0005347 (Tracheal cartilaginous sleeve)\n", + " \n", + " \n", + " Tracheal cartilaginous sleeve (TCS) is a rare congenital airway malformation in which distinct tracheal rings are replaced by a continuous cartilaginous segment. Vertically fused C- or O-shaped cartilaginous rings can extend from the subglottis to the carina or bronchus with little to no pars membranacea posteriorly. Comment:Tracheal cartilaginous sleeve has been associated with various craniosynostosis syndromes.\n", + " definition of HP:0005347 (Tracheal cartilaginous sleeve)\n", + " \n", + " \n", + " Anomalous origin of the right common carotid artery from the aorta\n", + " definition of HP:0031636 (Anomalous origin of the right common carotid artery from the aorta)\n", + " \n", + " \n", + " The right common carotid artery normally originates from the brachiocephalic artery. This term refers to an origin of this artery directly from the aorta.\n", + " definition of HP:0031636 (Anomalous origin of the right common carotid artery from the aorta)\n", + " \n", + " \n", + " Abnormal proportion of naive CD8 T cells\n", + " definition of HP:0410374 (Abnormal proportion of naive CD8 T cells)\n", + " \n", + " \n", + " Any abnormality in the proportion of naive CD8 T cells relative to the total number of T cells.\n", + " definition of HP:0410374 (Abnormal proportion of naive CD8 T cells)\n", + " \n", + " \n", + " Hypertrichotic hyperpigmented patch\n", + " definition of HP:0033190 (Hypertrichotic hyperpigmented patch)\n", + " \n", + " \n", + " A large nonpalpable spot of the skin over 1 cm in dimension with increased pigmentation and increased hair growth.\n", + " definition of HP:0033190 (Hypertrichotic hyperpigmented patch)\n", + " \n", + " \n", + " #Cutaneous hyperpigmentation with overlying hypertrichosis\n", + " definition of HP:0033190 (Hypertrichotic hyperpigmented patch)\n", + " \n", + " \n", + " Hamartoma of tongue\n", + " definition of HP:0011802 (Hamartoma of tongue)\n", + " \n", + " \n", + " A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue.\n", + " definition of HP:0011802 (Hamartoma of tongue)\n", + " \n", + " \n", + " #Lingual hamartoma\n", + " definition of HP:0011802 (Hamartoma of tongue)\n", + " \n", + " \n", + " Scanning speech\n", + " definition of HP:0002168 (Scanning speech)\n", + " \n", + " \n", + " An abnormal pattern of speech in which the words are as if measured or scanned; there is a pause after every syllable, and the syllables themselves are pronounced slowly.\n", + " definition of HP:0002168 (Scanning speech)\n", + " \n", + " \n", + " #Explosive speech\n", + " definition of HP:0002168 (Scanning speech)\n", + " \n", + " \n", + " Focal cortical dysplasia type Ia\n", + " definition of HP:0032048 (Focal cortical dysplasia type Ia)\n", + " \n", + " \n", + " A subtype of focal cortical dysplasia type I that is characterized by abnormal radial cortical lamination.\n", + " definition of HP:0032048 (Focal cortical dysplasia type Ia)\n", + " \n", + " \n", + " Abnormal corneal limbus morphology\n", + " definition of HP:0025348 (Abnormal corneal limbus morphology)\n", + " \n", + " \n", + " An anomaly of the margin of the cornea overlapped by the sclera.\n", + " definition of HP:0025348 (Abnormal corneal limbus morphology)\n", + " \n", + " \n", + " #Abnormality of the corneal limbus\n", + " definition of HP:0025348 (Abnormal corneal limbus morphology)\n", + " \n", + " \n", + " Abnormal upper limb metaphysis morphology\n", + " definition of HP:0009809 (Abnormal upper limb metaphysis morphology)\n", + " \n", + " \n", + " An anomaly of one or more metaphyses of the arms.\n", + " definition of HP:0009809 (Abnormal upper limb metaphysis morphology)\n", + " \n", + " \n", + " #Abnormality of the wide portion of upper limb bone #Abnormality of upper limb metaphysis #Metaphyseal abnormality of the upper limbs\n", + " definition of HP:0009809 (Abnormal upper limb metaphysis morphology)\n", + " \n", + " \n", + " Inappropriately low concentration of acetoacetate\n", + " definition of HP:6000235 (Inappropriately low concentration of acetoacetate)\n", + " \n", + " \n", + " Lower than appropriate concentration of acetoacetate in states such as hypoglycemia in which the normal response would be to elevate acetoacetate.\n", + " definition of HP:6000235 (Inappropriately low concentration of acetoacetate)\n", + " \n", + " \n", + " Elevated urinary 3-aminoisobutyric acid\n", + " definition of HP:0045034 (Elevated urinary 3-aminoisobutyric acid)\n", + " \n", + " \n", + " An increased amount of 3-aminoisobutyric acid in the urine.\n", + " definition of HP:0045034 (Elevated urinary 3-aminoisobutyric acid)\n", + " \n", + " \n", + " Thickened mitral valve cusp\n", + " definition of HP:6000342 (Thickened mitral valve cusp)\n", + " \n", + " \n", + " An abnormally increased thickness of a leaflet of the mitral valve.\n", + " definition of HP:6000342 (Thickened mitral valve cusp)\n", + " \n", + " \n", + " Anti-myeloperoxidase antibody positivity\n", + " definition of HP:0033559 (Anti-myeloperoxidase antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies in the blood circulation that react against myeloperoxidase.\n", + " definition of HP:0033559 (Anti-myeloperoxidase antibody positivity)\n", + " \n", + " \n", + " #Anti-MPO antibody positivity #Anti-myeloperoxidase specific antineutrophil cytoplasmic antibody #MPO-ANCA\n", + " definition of HP:0033559 (Anti-myeloperoxidase antibody positivity)\n", + " \n", + " \n", + " Perineal\n", + " definition of HP:0034779 (Perineal)\n", + " \n", + " \n", + " Applies to an abnormality that affects the perineum (the region of skin between the genitals and the anus).\n", + " definition of HP:0034779 (Perineal)\n", + " \n", + " \n", + " #Perineal distribution to finding #Perineal location\n", + " definition of HP:0034779 (Perineal)\n", + " \n", + " \n", + " Stippling of the epiphyses of the middle phalanges of the hand\n", + " definition of HP:0010266 (Stippling of the epiphyses of the middle phalanges of the hand)\n", + " \n", + " \n", + " #Speckled calcifications in the end part of the middle hand bones\n", + " definition of HP:0010266 (Stippling of the epiphyses of the middle phalanges of the hand)\n", + " \n", + " \n", + " Mastitis\n", + " definition of HP:0040407 (Mastitis)\n", + " \n", + " \n", + " Mastitis is defined as an inflammation of the breast and may or may not be accompanied by infection.\n", + " definition of HP:0040407 (Mastitis)\n", + " \n", + " \n", + " Pseudoepiphysis of the middle phalanx of the 5th toe\n", + " definition of HP:0100220 (Pseudoepiphysis of the middle phalanx of the 5th toe)\n", + " \n", + " \n", + " A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the middle phalanx of the fifth toe.\n", + " definition of HP:0100220 (Pseudoepiphysis of the middle phalanx of the 5th toe)\n", + " \n", + " \n", + " Renal tubular epithelial necrosis\n", + " definition of HP:0008682 (Renal tubular epithelial necrosis)\n", + " \n", + " \n", + " Coagulative necrosis of tubular epithelial cells, defined as cells with increased cytoplasmic eosinophilia and nucleus that has a condensed chromatin pattern with fuzzy nuclear contour or has barely visible nuclear basophilic staining. The extent of cortical tubular necrosis is scoredsemiquantitatively as none, mild (less than 25% tubules with necrosis), moderate (25-50 percent), and severe (over 50%).\n", + " definition of HP:0008682 (Renal tubular epithelial necrosis)\n", + " \n", + " \n", + " #Acute tubular necrosis #Renal tubular necrosis\n", + " definition of HP:0008682 (Renal tubular epithelial necrosis)\n", + " \n", + " \n", + " Abnormal circulating nucleobase concentration\n", + " definition of HP:0010932 (Abnormal circulating nucleobase concentration)\n", + " \n", + " \n", + " An abnormality of a nucleobase metabolic process.\n", + " definition of HP:0010932 (Abnormal circulating nucleobase concentration)\n", + " \n", + " \n", + " Somnambulism\n", + " definition of HP:0025236 (Somnambulism)\n", + " \n", + " \n", + " Ambulation or other complex motor behaviors may occur after getting out of bed in a sleep-like state. During sleepwalking episodes, the individual who is somnambulating appears confused or dazed, with their eyes usually open. They may mumble or give inappropriate answers to questions, and occasionally appear agitated.\n", + " definition of HP:0025236 (Somnambulism)\n", + " \n", + " \n", + " #Sleep walking\n", + " definition of HP:0025236 (Somnambulism)\n", + " \n", + " \n", + " Impairment in personality functioning\n", + " definition of HP:0031466 (Impairment in personality functioning)\n", + " \n", + " \n", + " A maladaptive personality trait characterized by moderate or greater impairment in personality (self /interpersonal) functioning.\n", + " definition of HP:0031466 (Impairment in personality functioning)\n", + " \n", + " \n", + " Punctate corneal epithelial erosions\n", + " definition of HP:0000584 (Punctate corneal epithelial erosions)\n", + " \n", + " \n", + " Abnormality of the lunate bone\n", + " definition of HP:0004248 (Abnormality of the lunate bone)\n", + " \n", + " \n", + " Tricuspid regurgitation\n", + " definition of HP:0005180 (Tricuspid regurgitation)\n", + " \n", + " \n", + " Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium.\n", + " definition of HP:0005180 (Tricuspid regurgitation)\n", + " \n", + " \n", + " #Tricuspid insufficiency #Tricuspid valve regurgitation\n", + " definition of HP:0005180 (Tricuspid regurgitation)\n", + " \n", + " \n", + " Broad inferior crus of antihelix\n", + " definition of HP:0011237 (Broad inferior crus of antihelix)\n", + " \n", + " \n", + " Increased width of the inferred cross-section of the inferior crus.\n", + " definition of HP:0011237 (Broad inferior crus of antihelix)\n", + " \n", + " \n", + " #Antihelix, inferior crus, broad\n", + " definition of HP:0011237 (Broad inferior crus of antihelix)\n", + " \n", + " \n", + " Increased serum sorbitol concentration\n", + " definition of HP:0033124 (Increased serum sorbitol concentration)\n", + " \n", + " \n", + " An increased level of sorbitol in the blood circulation.\n", + " definition of HP:0033124 (Increased serum sorbitol concentration)\n", + " \n", + " \n", + " Pleuritic chest pain\n", + " definition of HP:0033771 (Pleuritic chest pain)\n", + " \n", + " \n", + " Pleuritic chest pain is characterized by sudden and intense sharp, stabbing, or burning pain in the chest when inhaling and exhaling.\n", + " definition of HP:0033771 (Pleuritic chest pain)\n", + " \n", + " \n", + " Pyelonephritis\n", + " definition of HP:0012330 (Pyelonephritis)\n", + " \n", + " \n", + " An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices.\n", + " definition of HP:0012330 (Pyelonephritis)\n", + " \n", + " \n", + " Abnormal CSF carboxylic acid concentration\n", + " definition of HP:0500183 (Abnormal CSF carboxylic acid concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of a carboxylic acid in the cerebrospinal fluid.\n", + " definition of HP:0500183 (Abnormal CSF carboxylic acid concentration)\n", + " \n", + " \n", + " Lumbosacral hirsutism\n", + " definition of HP:0009747 (Lumbosacral hirsutism)\n", + " \n", + " \n", + " Abnormally increased hair growth in the lumbosacral region.\n", + " definition of HP:0009747 (Lumbosacral hirsutism)\n", + " \n", + " \n", + " Conjunctival hyperemia\n", + " definition of HP:0030953 (Conjunctival hyperemia)\n", + " \n", + " \n", + " Dilatation of the blood vessels of the conjunctiva leading to a red appearance of the sclera.\n", + " definition of HP:0030953 (Conjunctival hyperemia)\n", + " \n", + " \n", + " #Conjunctival hyperaemia #Conjunctival injection #Conjunctival vascular congestion\n", + " definition of HP:0030953 (Conjunctival hyperemia)\n", + " \n", + " \n", + " Abnormal parathyroid morphology\n", + " definition of HP:0011766 (Abnormal parathyroid morphology)\n", + " \n", + " \n", + " A structural abnormality of the parathyroid gland.\n", + " definition of HP:0011766 (Abnormal parathyroid morphology)\n", + " \n", + " \n", + " #Abnormality of the parathyroid morphology\n", + " definition of HP:0011766 (Abnormal parathyroid morphology)\n", + " \n", + " \n", + " Diffuse leiomyomatosis\n", + " definition of HP:0006756 (Diffuse leiomyomatosis)\n", + " \n", + " \n", + " Ameliorated by carbohydrate ingestion\n", + " definition of HP:0025257 (Ameliorated by carbohydrate ingestion)\n", + " \n", + " \n", + " Applies to a sign or symptom that is improved or made more bearable by eating or drinking carbohydrates including glucose (sugar).\n", + " definition of HP:0025257 (Ameliorated by carbohydrate ingestion)\n", + " \n", + " \n", + " Limited elbow flexion/extension\n", + " definition of HP:0005060 (Limited elbow flexion/extension)\n", + " \n", + " \n", + " Recurrent aspiration pneumonia\n", + " definition of HP:0002100 (Recurrent aspiration pneumonia)\n", + " \n", + " \n", + " Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia.\n", + " definition of HP:0002100 (Recurrent aspiration pneumonia)\n", + " \n", + " \n", + " #Recurrent pneumonia due to aspiration,\n", + " definition of HP:0002100 (Recurrent aspiration pneumonia)\n", + " \n", + " \n", + " Hearing impairment\n", + " definition of HP:0000365 (Hearing impairment)\n", + " \n", + " \n", + " A decreased magnitude of the sensory perception of sound.\n", + " definition of HP:0000365 (Hearing impairment)\n", + " \n", + " \n", + " #Deafness #Hearing defect #Hearing impairment #Hypacusis\n", + " definition of HP:0000365 (Hearing impairment)\n", + " \n", + " \n", + " Basal ganglia gliosis\n", + " definition of HP:0006999 (Basal ganglia gliosis)\n", + " \n", + " \n", + " Focal proliferation of glial cells in the basal ganglia.\n", + " definition of HP:0006999 (Basal ganglia gliosis)\n", + " \n", + " \n", + " #Gliosis in the basal ganglia\n", + " definition of HP:0006999 (Basal ganglia gliosis)\n", + " \n", + " \n", + " Arrhinencephaly\n", + " definition of HP:0002139 (Arrhinencephaly)\n", + " \n", + " \n", + " A defect of development of the brain characterized by congenital absence of the part of the brain that includes the olfactory bulbs, tracts, and other structures associated with the sense of smell.\n", + " definition of HP:0002139 (Arrhinencephaly)\n", + " \n", + " \n", + " #Arhinencephaly\n", + " definition of HP:0002139 (Arrhinencephaly)\n", + " \n", + " \n", + " Limited ankle dorsiflexion\n", + " definition of HP:0033526 (Limited ankle dorsiflexion)\n", + " \n", + " \n", + " Reduced ability to move the foot up toward the shin.\n", + " definition of HP:0033526 (Limited ankle dorsiflexion)\n", + " \n", + " \n", + " #Heel cord tightness #Tight heel cord\n", + " definition of HP:0033526 (Limited ankle dorsiflexion)\n", + " \n", + " \n", + " Triggered by vaccination\n", + " definition of HP:0025219 (Triggered by vaccination)\n", + " \n", + " \n", + " Applies to a sign or symptom that is provoked or brought about by a vaccination.\n", + " definition of HP:0025219 (Triggered by vaccination)\n", + " \n", + " \n", + " #Triggered by immunisation #Triggered by immunization #Triggered by vaccination #Vaccination triggered symptoms\n", + " definition of HP:0025219 (Triggered by vaccination)\n", + " \n", + " \n", + " Abnormal blood vessel morphology\n", + " definition of HP:0033353 (Abnormal blood vessel morphology)\n", + " \n", + " \n", + " Any structural anomaly of a blood vessel (artery, arteriole, capillary, venule, or vein).\n", + " definition of HP:0033353 (Abnormal blood vessel morphology)\n", + " \n", + " \n", + " Bracket epiphysis of the distal phalanx of the hallux\n", + " definition of HP:0010139 (Bracket epiphysis of the distal phalanx of the hallux)\n", + " \n", + " \n", + " The epiphysis of the distal phalanx of the hallux surrounds the diaphysis, having a bracket-like form.\n", + " definition of HP:0010139 (Bracket epiphysis of the distal phalanx of the hallux)\n", + " \n", + " \n", + " #Bracket shaped end part of the outermost bone of big toe\n", + " definition of HP:0010139 (Bracket epiphysis of the distal phalanx of the hallux)\n", + " \n", + " \n", + " Olfactory agnosia\n", + " definition of HP:5200405 (Olfactory agnosia)\n", + " \n", + " \n", + " The inability to recognize certain smells or types of odors that you previously recognized.\n", + " definition of HP:5200405 (Olfactory agnosia)\n", + " \n", + " \n", + " Hepatic lobular inflammation\n", + " definition of HP:0033197 (Hepatic lobular inflammation)\n", + " \n", + " \n", + " Infiltration of inflammatory cells in lobules of the liver. A focus of lobular inflammation can be defined as two or more inflammatory cells (neutrophils, lymphocytes and other mononuclear cells, eosinophils and microgranulomas) within the lobule present within the sinusoids or surrounding injured hepatocytes (ballooned or apoptotic hepatocytes).\n", + " definition of HP:0033197 (Hepatic lobular inflammation)\n", + " \n", + " \n", + " Hypopigmented streaks\n", + " definition of HP:0007535 (Hypopigmented streaks)\n", + " \n", + " \n", + " Neck muscle weakness\n", + " definition of HP:0000467 (Neck muscle weakness)\n", + " \n", + " \n", + " Decreased strength of the neck musculature.\n", + " definition of HP:0000467 (Neck muscle weakness)\n", + " \n", + " \n", + " #Floppy neck #Neck muscle weakness\n", + " definition of HP:0000467 (Neck muscle weakness)\n", + " \n", + " \n", + " Pleural rub\n", + " definition of HP:0032000 (Pleural rub)\n", + " \n", + " \n", + " An abnormal breath sound that is nonmusical, short and explosive. It is grating, rubbing, creaky, or leathery in character and present in both phases of respiration. Typically the expiratory component mirrors the inspiratory component. It occurs due to inflamed pleural surface rubbing each other during breathing. Clinically, it is important to differentiate it from crackles\n", + " definition of HP:0032000 (Pleural rub)\n", + " \n", + " \n", + " Nodular mesangiosclerosis\n", + " definition of HP:0033549 (Nodular mesangiosclerosis)\n", + " \n", + " \n", + " Lobular, round to oval mesangial lesions with an acellular hyaline/matrix core surrounded by compressed mesangial nuclei.\n", + " definition of HP:0033549 (Nodular mesangiosclerosis)\n", + " \n", + " \n", + " Ventricular arrhythmia\n", + " definition of HP:0004308 (Ventricular arrhythmia)\n", + " \n", + " \n", + " #Ventricular arrhythmias\n", + " definition of HP:0004308 (Ventricular arrhythmia)\n", + " \n", + " \n", + " Elevated urinary 4-tyramine level\n", + " definition of HP:6000775 (Elevated urinary 4-tyramine level)\n", + " \n", + " \n", + " The amount of 4-tyramine in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000775 (Elevated urinary 4-tyramine level)\n", + " \n", + " \n", + " Decreased circulating sulfate concentration\n", + " definition of HP:6000854 (Decreased circulating sulfate concentration)\n", + " \n", + " \n", + " The concentration of sulfate in the blood circulation is below the lower limit of normal.\n", + " definition of HP:6000854 (Decreased circulating sulfate concentration)\n", + " \n", + " \n", + " Bifid nose\n", + " definition of HP:0011803 (Bifid nose)\n", + " \n", + " \n", + " Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip.\n", + " definition of HP:0011803 (Bifid nose)\n", + " \n", + " \n", + " #Bifid nasal bridge #Indentation or clefting of the nose\n", + " definition of HP:0011803 (Bifid nose)\n", + " \n", + " \n", + " Choriocapillaris atrophy\n", + " definition of HP:0030491 (Choriocapillaris atrophy)\n", + " \n", + " \n", + " Atrophy of the capillary lamina of choroid.\n", + " definition of HP:0030491 (Choriocapillaris atrophy)\n", + " \n", + " \n", + " Echogenic fetal bowel\n", + " definition of HP:0010943 (Echogenic fetal bowel)\n", + " \n", + " \n", + " Echogenic bowel is defined as fetal bowel with homogenous areas of echogenicity that are equal to or greater than that of surrounding bone.\n", + " definition of HP:0010943 (Echogenic fetal bowel)\n", + " \n", + " \n", + " #Echogenic bowel #Echogenic foetal bowel #Hyperechogenic fetal bowel #Hyperechogenic foetal bowel #Prenatal ultrasound: hyperechogenic bowel\n", + " definition of HP:0010943 (Echogenic fetal bowel)\n", + " \n", + " \n", + " Bracket epiphysis of the 1st metatarsal\n", + " definition of HP:0010150 (Bracket epiphysis of the 1st metatarsal)\n", + " \n", + " \n", + " The epiphysis of the 1st metatarsal surrounds the diaphysis, having a bracket-like form.\n", + " definition of HP:0010150 (Bracket epiphysis of the 1st metatarsal)\n", + " \n", + " \n", + " #Bracket shaped end part of 1st long bone of foot\n", + " definition of HP:0010150 (Bracket epiphysis of the 1st metatarsal)\n", + " \n", + " \n", + " Fine hair\n", + " definition of HP:0002213 (Fine hair)\n", + " \n", + " \n", + " Hair that is fine or thin to the touch.\n", + " definition of HP:0002213 (Fine hair)\n", + " \n", + " \n", + " #Fine hair #Fine hair shaft #Fine hair texture #Thin hair #Thin hair shaft #Thin hair texture #Thinned hair\n", + " definition of HP:0002213 (Fine hair)\n", + " \n", + " \n", + " Focal emotional seizure with anger\n", + " definition of HP:0032736 (Focal emotional seizure with anger)\n", + " \n", + " \n", + " Focal emotional seizure with anger is characterized by the presence of anger, as an expressed or observed emotion, at the outset of the seizure. It may be accompanied by aggressive behavior.\n", + " definition of HP:0032736 (Focal emotional seizure with anger)\n", + " \n", + " \n", + " Arcuate scotoma\n", + " definition of HP:0030530 (Arcuate scotoma)\n", + " \n", + " \n", + " Macroglossia\n", + " definition of HP:0000158 (Macroglossia)\n", + " \n", + " \n", + " Increased length and width of the tongue.\n", + " definition of HP:0000158 (Macroglossia)\n", + " \n", + " \n", + " #Abnormally large tongue #Hyperplasia of the tongue #Hypertrophy of the tongue #Increased size of tongue #Large tongue #Tongue hypertrophy\n", + " definition of HP:0000158 (Macroglossia)\n", + " \n", + " \n", + " Generalized hypotrichosis\n", + " definition of HP:0004528 (Generalized hypotrichosis)\n", + " \n", + " \n", + " Reduced or lacking hair growth in a generalized distribution.\n", + " definition of HP:0004528 (Generalized hypotrichosis)\n", + " \n", + " \n", + " #Generalised hypotrichosis #Hypotrichosis, generalised #Hypotrichosis, generalized\n", + " definition of HP:0004528 (Generalized hypotrichosis)\n", + " \n", + " \n", + " Sclerosis of the proximal phalanx of the 4th toe\n", + " definition of HP:0100933 (Sclerosis of the proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " #Increased bone density in the innermost bone of the 4th toe\n", + " definition of HP:0100933 (Sclerosis of the proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " Reduced bone mineral density\n", + " definition of HP:0004349 (Reduced bone mineral density)\n", + " \n", + " \n", + " A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.\n", + " definition of HP:0004349 (Reduced bone mineral density)\n", + " \n", + " \n", + " #Decreased bone mineral density #Decreased bone mineral density Z score #Low solidness and mass of the bones\n", + " definition of HP:0004349 (Reduced bone mineral density)\n", + " \n", + " \n", + " Septic arthritis\n", + " definition of HP:0003095 (Septic arthritis)\n", + " \n", + " \n", + " Synostosis involving the tibia\n", + " definition of HP:0005929 (Synostosis involving the tibia)\n", + " \n", + " \n", + " #Bone fusion involving the shinbone\n", + " definition of HP:0005929 (Synostosis involving the tibia)\n", + " \n", + " \n", + " Reduced functional residual capacity\n", + " definition of HP:0033750 (Reduced functional residual capacity)\n", + " \n", + " \n", + " An abnormal reduction in the volume remaining in the lungs after a normal, passive exhalation.\n", + " definition of HP:0033750 (Reduced functional residual capacity)\n", + " \n", + " \n", + " Decreased glucosephosphate isomerase level\n", + " definition of HP:0003568 (Decreased glucosephosphate isomerase level)\n", + " \n", + " \n", + " A decreased level of glucose-6-phosphate isomerase.\n", + " definition of HP:0003568 (Decreased glucosephosphate isomerase level)\n", + " \n", + " \n", + " #Decreased glucose phosphate isomerase activity #Glucosephosphate isomerase deficiency #Phosphohexose isomerase deficiency\n", + " definition of HP:0003568 (Decreased glucosephosphate isomerase level)\n", + " \n", + " \n", + " Increased urine hexacarboxylporphyrin level\n", + " definition of HP:0034907 (Increased urine hexacarboxylporphyrin level)\n", + " \n", + " \n", + " Concentration of hexacarboxylporphyrin in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:0034907 (Increased urine hexacarboxylporphyrin level)\n", + " \n", + " \n", + " #Hexacarboxylporphyrin high in urine\n", + " definition of HP:0034907 (Increased urine hexacarboxylporphyrin level)\n", + " \n", + " \n", + " Interrupted inferior vena cava with azygous continuation\n", + " definition of HP:0011671 (Interrupted inferior vena cava with azygous continuation)\n", + " \n", + " \n", + " Interrupted inferior vena cava with azygous continuation is the result of connection failure between the right subcardinal vein and the right vitelline vein. Consequently, venous blood from the caudal part of the body reaches the heart via the azygous vein and superior vena cava.\n", + " definition of HP:0011671 (Interrupted inferior vena cava with azygous continuation)\n", + " \n", + " \n", + " 2nd-5th toe middle phalangeal hypoplasia\n", + " definition of HP:0008083 (2nd-5th toe middle phalangeal hypoplasia)\n", + " \n", + " \n", + " #Underdeveloped 2nd-5th middle toe bones\n", + " definition of HP:0008083 (2nd-5th toe middle phalangeal hypoplasia)\n", + " \n", + " \n", + " Positive stool Cryptosporidium antigen test\n", + " definition of HP:6000909 (Positive stool Cryptosporidium antigen test)\n", + " \n", + " \n", + " Fecal analysis for Cryptosporidium antigen is abnormal. Tests include direct fluorescent-antibody (DFA), which detects intact organisms, and enzyme immunoassays (EIAs), which detect soluble stool antigens.\n", + " definition of HP:6000909 (Positive stool Cryptosporidium antigen test)\n", + " \n", + " \n", + " Limited shoulder flexion\n", + " definition of HP:0033482 (Limited shoulder flexion)\n", + " \n", + " \n", + " A reduced ability to flex the shoulder. Shoulder flexion is the motion that moves the arms from a resting position by the side of the body to a position above the head.\n", + " definition of HP:0033482 (Limited shoulder flexion)\n", + " \n", + " \n", + " Abnormality of the humeral epiphysis\n", + " definition of HP:0003891 (Abnormality of the humeral epiphysis)\n", + " \n", + " \n", + " An anomaly of the humeral epiphysis.\n", + " definition of HP:0003891 (Abnormality of the humeral epiphysis)\n", + " \n", + " \n", + " #Abnormality of end part of the long bone of the upper arm #Abnormality of the humeral epiphyses\n", + " definition of HP:0003891 (Abnormality of the humeral epiphysis)\n", + " \n", + " \n", + " Palmoplantar blistering\n", + " definition of HP:0007446 (Palmoplantar blistering)\n", + " \n", + " \n", + " A type of blistering that affects the skin of the palms of the hands and the soles of the feet.\n", + " definition of HP:0007446 (Palmoplantar blistering)\n", + " \n", + " \n", + " Decreased urine alpha-ketoglutarate concentration\n", + " definition of HP:0012403 (Decreased urine alpha-ketoglutarate concentration)\n", + " \n", + " \n", + " A lower than normal concentration of 2-oxoglutaric acid in the urine.\n", + " definition of HP:0012403 (Decreased urine alpha-ketoglutarate concentration)\n", + " \n", + " \n", + " #Decreased urinary 2-oxoglutarate\n", + " definition of HP:0012403 (Decreased urine alpha-ketoglutarate concentration)\n", + " \n", + " \n", + " Abnormality of the scalp hair\n", + " definition of HP:0100037 (Abnormality of the scalp hair)\n", + " \n", + " \n", + " An abnormality of the hair of head.\n", + " definition of HP:0100037 (Abnormality of the scalp hair)\n", + " \n", + " \n", + " #Abnormality of the scalp hair\n", + " definition of HP:0100037 (Abnormality of the scalp hair)\n", + " \n", + " \n", + " Patchy sclerosis of the middle phalanx of the 4th finger\n", + " definition of HP:0009307 (Patchy sclerosis of the middle phalanx of the 4th finger)\n", + " \n", + " \n", + " Uneven (irregular) increase in bone density of the middle phalanx of the fourth finger.\n", + " definition of HP:0009307 (Patchy sclerosis of the middle phalanx of the 4th finger)\n", + " \n", + " \n", + " #Uneven increase in bone density in the middle bone of the ring finger\n", + " definition of HP:0009307 (Patchy sclerosis of the middle phalanx of the 4th finger)\n", + " \n", + " \n", + " Face of the giant panda sign\n", + " definition of HP:0034254 (Face of the giant panda sign)\n", + " \n", + " \n", + " The face of the giant panda sign on T2-weighted MRI is characterized by preservation of normal signal intensity in the red nuclei and lateral portion of the pars reticulata of the substantia nigra, high signal in the tegmentum, and hypointensity of the superior colliculus. The findings are said to resemble the face of a giant panda.\n", + " definition of HP:0034254 (Face of the giant panda sign)\n", + " \n", + " \n", + " #Midbrain panda sign\n", + " definition of HP:0034254 (Face of the giant panda sign)\n", + " \n", + " \n", + " Dysplastic distal thumb phalanges with a central hole\n", + " definition of HP:0005688 (Dysplastic distal thumb phalanges with a central hole)\n", + " \n", + " \n", + " Generalized reticulate brown pigmentation\n", + " definition of HP:0007599 (Generalized reticulate brown pigmentation)\n", + " \n", + " \n", + " #Generalised reticulate brown pigmentation\n", + " definition of HP:0007599 (Generalized reticulate brown pigmentation)\n", + " \n", + " \n", + " Oval transradiancy of humerus\n", + " definition of HP:0003877 (Oval transradiancy of humerus)\n", + " \n", + " \n", + " #Humeral oval transradiancy\n", + " definition of HP:0003877 (Oval transradiancy of humerus)\n", + " \n", + " \n", + " Proptosis\n", + " definition of HP:0000520 (Proptosis)\n", + " \n", + " \n", + " An eye that is protruding anterior to the plane of the face to a greater extent than is typical.\n", + " definition of HP:0000520 (Proptosis)\n", + " \n", + " \n", + " #Anterior bulging of the globe #Anterior bulging of the globe of eye #Bulging eye #Exophthalmos #Eyeballs bulging out #Ocular proptosis #Prominent eyes #Prominent globes #Protruding eyes #Protrusio bulbi\n", + " definition of HP:0000520 (Proptosis)\n", + " \n", + " \n", + " Esophageal myenteric plexus degeneration\n", + " definition of HP:0034520 (Esophageal myenteric plexus degeneration)\n", + " \n", + " \n", + " Deterioration of the cells of the myenteric plexus (also known as the Auerbach plexus) located between the layers of the muscular propria of the esophagus.\n", + " definition of HP:0034520 (Esophageal myenteric plexus degeneration)\n", + " \n", + " \n", + " Fatigable weakness of speech muscles\n", + " definition of HP:0030194 (Fatigable weakness of speech muscles)\n", + " \n", + " \n", + " A type of weakness of the muscles involved in speech that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.\n", + " definition of HP:0030194 (Fatigable weakness of speech muscles)\n", + " \n", + " \n", + " Anti-glycoprotein-210 antibody positivity\n", + " definition of HP:0033562 (Anti-glycoprotein-210 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against glycoprotein-210.\n", + " definition of HP:0033562 (Anti-glycoprotein-210 antibody positivity)\n", + " \n", + " \n", + " #Anti-gp210 antibody positivity\n", + " definition of HP:0033562 (Anti-glycoprotein-210 antibody positivity)\n", + " \n", + " \n", + " Low femoral bone density\n", + " definition of HP:0031163 (Low femoral bone density)\n", + " \n", + " \n", + " Reduced bone mineral density of the femur.\n", + " definition of HP:0031163 (Low femoral bone density)\n", + " \n", + " \n", + " #Low femur bone density\n", + " definition of HP:0031163 (Low femoral bone density)\n", + " \n", + " \n", + " Increased pulmonary vascular resistance\n", + " definition of HP:0005317 (Increased pulmonary vascular resistance)\n", + " \n", + " \n", + " Pulmonary vascular resistance (PVR) more than 3 wood units, as defined by the current definition of pulmonary hypertension. 95% of individuals have a PVR of less than 2.4 wood units.\n", + " definition of HP:0005317 (Increased pulmonary vascular resistance)\n", + " \n", + " \n", + " Skeletal myopathy\n", + " definition of HP:0003756 (Skeletal myopathy)\n", + " \n", + " \n", + " Abnormal cardiac atrium morphology\n", + " definition of HP:0005120 (Abnormal cardiac atrium morphology)\n", + " \n", + " \n", + " Any structural abnormality of a cardiac atrium.\n", + " definition of HP:0005120 (Abnormal cardiac atrium morphology)\n", + " \n", + " \n", + " #Abnormality of cardiac atrium morphology #Abnormality of heart atrium\n", + " definition of HP:0005120 (Abnormal cardiac atrium morphology)\n", + " \n", + " \n", + " Hypopigmented skin patches on arms\n", + " definition of HP:0007526 (Hypopigmented skin patches on arms)\n", + " \n", + " \n", + " #Hypopigmented upper extremeity skin patches #Patchy loss of skin color on arms #Patchy loss of skin colour on arms\n", + " definition of HP:0007526 (Hypopigmented skin patches on arms)\n", + " \n", + " \n", + " Abnormal central motor function\n", + " definition of HP:0011442 (Abnormal central motor function)\n", + " \n", + " \n", + " An anomaly of the control or production of movement in the central nervous system.\n", + " definition of HP:0011442 (Abnormal central motor function)\n", + " \n", + " \n", + " #Abnormality of central motor function\n", + " definition of HP:0011442 (Abnormal central motor function)\n", + " \n", + " \n", + " Telangiectasia of the ear\n", + " definition of HP:0009893 (Telangiectasia of the ear)\n", + " \n", + " \n", + " The presence of telangiectasia of the ear.\n", + " definition of HP:0009893 (Telangiectasia of the ear)\n", + " \n", + " \n", + " Focal aware sensory seizure with visual features\n", + " definition of HP:0032851 (Focal aware sensory seizure with visual features)\n", + " \n", + " \n", + " A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colors, or other shapes, simple patterns, scotomata, or amaurosis.\n", + " definition of HP:0032851 (Focal aware sensory seizure with visual features)\n", + " \n", + " \n", + " Progressive external ophthalmoplegia\n", + " definition of HP:0000590 (Progressive external ophthalmoplegia)\n", + " \n", + " \n", + " Initial bilateral ptosis followed by limitation of eye movements in all directions and slowing of saccades.\n", + " definition of HP:0000590 (Progressive external ophthalmoplegia)\n", + " \n", + " \n", + " #External ophthalmoplegia, progressive\n", + " definition of HP:0000590 (Progressive external ophthalmoplegia)\n", + " \n", + " \n", + " Notched T wave\n", + " definition of HP:0034303 (Notched T wave)\n", + " \n", + " \n", + " A bifid T-wave with a notch duration between the 2 peaks at least 0.04 sec and an amplitude at least 0.05 mV.\n", + " definition of HP:0034303 (Notched T wave)\n", + " \n", + " \n", + " #Notched T-wave\n", + " definition of HP:0034303 (Notched T wave)\n", + " \n", + " \n", + " Generalized hypopigmentation of hair\n", + " definition of HP:0011358 (Generalized hypopigmentation of hair)\n", + " \n", + " \n", + " Reduced pigmentation of hair diffusely.\n", + " definition of HP:0011358 (Generalized hypopigmentation of hair)\n", + " \n", + " \n", + " #Generalised hypopigmentation of hair\n", + " definition of HP:0011358 (Generalized hypopigmentation of hair)\n", + " \n", + " \n", + " Macrodactyly of finger\n", + " definition of HP:0100746 (Macrodactyly of finger)\n", + " \n", + " \n", + " A type of Macrodactyly affecting one or several fingers.\n", + " definition of HP:0100746 (Macrodactyly of finger)\n", + " \n", + " \n", + " #Macrodactyly of hands\n", + " definition of HP:0100746 (Macrodactyly of finger)\n", + " \n", + " \n", + " Absent muscle fiber dysferlin\n", + " definition of HP:0030114 (Absent muscle fiber dysferlin)\n", + " \n", + " \n", + " Immunohistochemistry shows complete lack of dysferlin protein in the muscle biopsy.\n", + " definition of HP:0030114 (Absent muscle fiber dysferlin)\n", + " \n", + " \n", + " #Absent muscle fibre dysferlin\n", + " definition of HP:0030114 (Absent muscle fiber dysferlin)\n", + " \n", + " \n", + " Unaided visual acuity 1.2 LogMAR\n", + " definition of HP:0030547 (Unaided visual acuity 1.2 LogMAR)\n", + " \n", + " \n", + " Abnormal muscle glycogen content\n", + " definition of HP:0012269 (Abnormal muscle glycogen content)\n", + " \n", + " \n", + " Any anomaly in the amount of glycogen in muscle tissue.\n", + " definition of HP:0012269 (Abnormal muscle glycogen content)\n", + " \n", + " \n", + " Decreased CSF glutamine concentration\n", + " definition of HP:0500198 (Decreased CSF glutamine concentration)\n", + " \n", + " \n", + " Abnormally decreased levels of glutamine in cerebrospinal fluid.\n", + " definition of HP:0500198 (Decreased CSF glutamine concentration)\n", + " \n", + " \n", + " #Low glutamine levels in cerebrospinal fluid\n", + " definition of HP:0500198 (Decreased CSF glutamine concentration)\n", + " \n", + " \n", + " Abnormality of the epiphyses of the 5th finger\n", + " definition of HP:0009152 (Abnormality of the epiphyses of the 5th finger)\n", + " \n", + " \n", + " Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 5th finger.\n", + " definition of HP:0009152 (Abnormality of the epiphyses of the 5th finger)\n", + " \n", + " \n", + " #Abnormality of end part of little finger bone #Abnormality of end part of pinkie finger bone #Abnormality of end part of pinky finger bone\n", + " definition of HP:0009152 (Abnormality of the epiphyses of the 5th finger)\n", + " \n", + " \n", + " Positive Murphy sign\n", + " definition of HP:0034753 (Positive Murphy sign)\n", + " \n", + " \n", + " Murphy's sign is elicited in patients with acute cholecystitis by asking the patient to take in and hold a deep breath while palpating the subcostal region. In practice, Murphy's sign is performed by palpating the subcostal region during inspiration. If pain is elicited and the patient suddenly stops their inspiratory effort, a positive Murphy's sign has been elicited.\n", + " definition of HP:0034753 (Positive Murphy sign)\n", + " \n", + " \n", + " #Murphy's sign #Murphy's sign positive #Sweeney's sign\n", + " definition of HP:0034753 (Positive Murphy sign)\n", + " \n", + " \n", + " Decreased glucagon level\n", + " definition of HP:0030689 (Decreased glucagon level)\n", + " \n", + " \n", + " A reduced concentration of glucagon in the blood circulation.\n", + " definition of HP:0030689 (Decreased glucagon level)\n", + " \n", + " \n", + " Abnormality of ocular abduction\n", + " definition of HP:0011347 (Abnormality of ocular abduction)\n", + " \n", + " \n", + " An abnormality involving the movement of the eye outwards.\n", + " definition of HP:0011347 (Abnormality of ocular abduction)\n", + " \n", + " \n", + " Abnormal salivary metabolite concentration\n", + " definition of HP:0033012 (Abnormal salivary metabolite concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of a metabolite in saliva.\n", + " definition of HP:0033012 (Abnormal salivary metabolite concentration)\n", + " \n", + " \n", + " Elevated CSF D-2-hydroxyglutaric acid concentration\n", + " definition of HP:6000246 (Elevated CSF D-2-hydroxyglutaric acid concentration)\n", + " \n", + " \n", + " The concentration of D-2-hydroxyglutaric acid in the cerebrospinal fluid (CSF) is above the upper limit of normal.\n", + " definition of HP:6000246 (Elevated CSF D-2-hydroxyglutaric acid concentration)\n", + " \n", + " \n", + " Recurrent gastroenteritis\n", + " definition of HP:0031123 (Recurrent gastroenteritis)\n", + " \n", + " \n", + " Increased susceptibility to gastroenteritis, an infectious inflammationof the stomach and small intestines manifested by signs and symptoms such as diarheas and abdominal pain, as manifested by recurrent episodes of gastroenteritis.\n", + " definition of HP:0031123 (Recurrent gastroenteritis)\n", + " \n", + " \n", + " Hyperoxaluria\n", + " definition of HP:0003159 (Hyperoxaluria)\n", + " \n", + " \n", + " Increased excretion of oxalates in the urine.\n", + " definition of HP:0003159 (Hyperoxaluria)\n", + " \n", + " \n", + " #High urine oxalate levels #Increased level of oxalate in urine\n", + " definition of HP:0003159 (Hyperoxaluria)\n", + " \n", + " \n", + " Abnormal cardiac catheterization\n", + " definition of HP:0500017 (Abnormal cardiac catheterization)\n", + " \n", + " \n", + " Abnormal results from the diagnostic tests resulting from cardiac catheterization.\n", + " definition of HP:0500017 (Abnormal cardiac catheterization)\n", + " \n", + " \n", + " #Abnormal cardiac cath\n", + " definition of HP:0500017 (Abnormal cardiac catheterization)\n", + " \n", + " \n", + " Focal cortical dysplasia type I\n", + " definition of HP:0032047 (Focal cortical dysplasia type I)\n", + " \n", + " \n", + " A type of focal cortical dysplasia that is characterized by abnormal cortical layering.\n", + " definition of HP:0032047 (Focal cortical dysplasia type I)\n", + " \n", + " \n", + " Focal undressing automatism seizure\n", + " definition of HP:0032907 (Focal undressing automatism seizure)\n", + " \n", + " \n", + " A type of focal automatism seizure characterized by involuntary undressing at onset.\n", + " definition of HP:0032907 (Focal undressing automatism seizure)\n", + " \n", + " \n", + " Abnormal muscle fiber alpha sarcoglycan\n", + " definition of HP:0030100 (Abnormal muscle fiber alpha sarcoglycan)\n", + " \n", + " \n", + " Deviation from normal in the amount of alpha sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines.\n", + " definition of HP:0030100 (Abnormal muscle fiber alpha sarcoglycan)\n", + " \n", + " \n", + " #Abnormal muscle fibre alpha sarcoglycan\n", + " definition of HP:0030100 (Abnormal muscle fiber alpha sarcoglycan)\n", + " \n", + " \n", + " Rounded atelectasis\n", + " definition of HP:0033658 (Rounded atelectasis)\n", + " \n", + " \n", + " Rounded atelectasis is rounded collapsed lung associated with invaginated fibrotic pleura and thickened and fibrotic interlobular septa. Most frequently, it is the consequence of an asbestos-induced exudative pleural effusion with resultant pleural scarring, but it may occur with any cause of pleural fibrosis. On chest radiographs, rounded atelectasis appears as a mass abutting a pleural surface, usually in the posterior part of a lower lobe. Distorted vessels have a curvilinear disposition as they converge on the mass (the comet tail sign). The degree of lobar retraction depends on the volume of atelectatic lung. It is almost invariably associated with other signs of pleural fibrosis (eg, blunting of costophrenic angle). CT is more sensitive for the detection and display of the characteristic features of rounded atelectasis. An additional sign is homogeneous uptake of contrast medium in the atelectatic lung.\n", + " definition of HP:0033658 (Rounded atelectasis)\n", + " \n", + " \n", + " #Blesovsky syndrome #Comet tail sign #Folded lung syndrome #Helical atelectasis #Pleural pseudotumor #Pleuroma\n", + " definition of HP:0033658 (Rounded atelectasis)\n", + " \n", + " \n", + " Central retinal vein occlusion\n", + " definition of HP:0020166 (Central retinal vein occlusion)\n", + " \n", + " \n", + " Central retinal vein occlusion is an occlusion of the main retinal vein posterior to the lamina cribrosa of the optic nerve and is typically caused by thrombosis.\n", + " definition of HP:0020166 (Central retinal vein occlusion)\n", + " \n", + " \n", + " Focal aware undressing automatism seizure\n", + " definition of HP:0032908 (Focal aware undressing automatism seizure)\n", + " \n", + " \n", + " A type of focal automatism seizure characterized by involuntary undressing at onset and during which awareness is fully retained throughout.\n", + " definition of HP:0032908 (Focal aware undressing automatism seizure)\n", + " \n", + " \n", + " Ambiguous genitalia\n", + " definition of HP:0000062 (Ambiguous genitalia)\n", + " \n", + " \n", + " A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4.\n", + " definition of HP:0000062 (Ambiguous genitalia)\n", + " \n", + " \n", + " #Ambiguous external genitalia #Ambiguous external genitalia at birth #Intersex genitalia\n", + " definition of HP:0000062 (Ambiguous genitalia)\n", + " \n", + " \n", + " Decreased fibular diameter\n", + " definition of HP:0031107 (Decreased fibular diameter)\n", + " \n", + " \n", + " Reduced width of the cross sectional diameter of the fibula.\n", + " definition of HP:0031107 (Decreased fibular diameter)\n", + " \n", + " \n", + " #Thin fibula\n", + " definition of HP:0031107 (Decreased fibular diameter)\n", + " \n", + " \n", + " Decreased circulating parathyroid hormone level\n", + " definition of HP:0031817 (Decreased circulating parathyroid hormone level)\n", + " \n", + " \n", + " An abnormally decreased concentration of parathyroid hormone.\n", + " definition of HP:0031817 (Decreased circulating parathyroid hormone level)\n", + " \n", + " \n", + " #Decreased circulating PTH level #Decreased serum parathyroid hormone #Decreased serum parathyroid hormone level #Decreased serum PTH\n", + " definition of HP:0031817 (Decreased circulating parathyroid hormone level)\n", + " \n", + " \n", + " Immunodeficiency\n", + " definition of HP:0002721 (Immunodeficiency)\n", + " \n", + " \n", + " Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.\n", + " definition of HP:0002721 (Immunodeficiency)\n", + " \n", + " \n", + " #Decreased immune function #Immune deficiency\n", + " definition of HP:0002721 (Immunodeficiency)\n", + " \n", + " \n", + " Gastric perforation\n", + " definition of HP:6000383 (Gastric perforation)\n", + " \n", + " \n", + " A full-thickness injury of the wall of the stomach.\n", + " definition of HP:6000383 (Gastric perforation)\n", + " \n", + " \n", + " #Gastric rupture\n", + " definition of HP:6000383 (Gastric perforation)\n", + " \n", + " \n", + " Abnormal inflammatory response\n", + " definition of HP:0012647 (Abnormal inflammatory response)\n", + " \n", + " \n", + " Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.\n", + " definition of HP:0012647 (Abnormal inflammatory response)\n", + " \n", + " \n", + " #Abnormal inflammatory response\n", + " definition of HP:0012647 (Abnormal inflammatory response)\n", + " \n", + " \n", + " Ovarian thecoma\n", + " definition of HP:0030983 (Ovarian thecoma)\n", + " \n", + " \n", + " A sex cord-stromal tumor of the ovary. Thecomas range from small tumors to large solid or solid-cystic masses of up to 15 cm. They are unilateral in over 90 percent of cases and are rarely malignant. Thecomas are stromal tumors made up of cells that resemble theca cells, lutein cells and fibroblasts. They are traditionally classified within the sex cord-stromal tumor category of ovarian tumor types.\n", + " definition of HP:0030983 (Ovarian thecoma)\n", + " \n", + " \n", + " Short middle phalanx of the 4th finger\n", + " definition of HP:0009295 (Short middle phalanx of the 4th finger)\n", + " \n", + " \n", + " Hypoplastic/small middle phalanx of the 4th finger, also known as the ring finger.\n", + " definition of HP:0009295 (Short middle phalanx of the 4th finger)\n", + " \n", + " \n", + " #Brachymesophalangy IV (finger) #Hypoplastic/small middle phalanx of ring finger #Hypoplastic/small middle phalanx of the 4th finger #Short middle bone of 4th finger #Short middle phalanx of ring finger\n", + " definition of HP:0009295 (Short middle phalanx of the 4th finger)\n", + " \n", + " \n", + " Straddling atrioventricular valve\n", + " definition of HP:0011562 (Straddling atrioventricular valve)\n", + " \n", + " \n", + " Anomalous insertion of the chordae tendinae or papillary muscles into the contralateral ventricle in the presence of a ventricular septum defect.\n", + " definition of HP:0011562 (Straddling atrioventricular valve)\n", + " \n", + " \n", + " Abnormal P wave\n", + " definition of HP:0031595 (Abnormal P wave)\n", + " \n", + " \n", + " Any anomaly of the P wave of the EKG, which results from atrial depolarization. The P wave occurs when the sinoatrial node creates an action potential that depolarizes the atria.\n", + " definition of HP:0031595 (Abnormal P wave)\n", + " \n", + " \n", + " Rubral tremor\n", + " definition of HP:0030665 (Rubral tremor)\n", + " \n", + " \n", + " Rubral tremor is characterized by a slow coarse tremor at rest that is exacerbated by postural adjustments and by guided voluntary movements.\n", + " definition of HP:0030665 (Rubral tremor)\n", + " \n", + " \n", + " #Holmes' tremor\n", + " definition of HP:0030665 (Rubral tremor)\n", + " \n", + " \n", + " History of recent insect bite\n", + " definition of HP:0020139 (History of recent insect bite)\n", + " \n", + " \n", + " Medical history of a recent bite injury due to an insect.\n", + " definition of HP:0020139 (History of recent insect bite)\n", + " \n", + " \n", + " Proximal amyotrophy\n", + " definition of HP:0007126 (Proximal amyotrophy)\n", + " \n", + " \n", + " Amyotrophy (muscular atrophy) affecting the proximal musculature.\n", + " definition of HP:0007126 (Proximal amyotrophy)\n", + " \n", + " \n", + " #Muscle atrophy, proximal #Proximal muscle atrophy #Proximal muscle wasting #Symmetric proximal muscular atrophy #Symmetrical, proximal limb muscle atrophy #Wasting of muscles near the body\n", + " definition of HP:0007126 (Proximal amyotrophy)\n", + " \n", + " \n", + " Cogan lid twitch\n", + " definition of HP:0031786 (Cogan lid twitch)\n", + " \n", + " \n", + " Transient eyelid retraction during refixation from down to straight ahead.\n", + " definition of HP:0031786 (Cogan lid twitch)\n", + " \n", + " \n", + " #Cogan eyelid twitch #Eyelid twitch #Lid twitch\n", + " definition of HP:0031786 (Cogan lid twitch)\n", + " \n", + " \n", + " Salpingitis\n", + " definition of HP:0034492 (Salpingitis)\n", + " \n", + " \n", + " An inflammation of the fallopian tube.\n", + " definition of HP:0034492 (Salpingitis)\n", + " \n", + " \n", + " Decreased circulating vitamin D concentration\n", + " definition of HP:0100512 (Decreased circulating vitamin D concentration)\n", + " \n", + " \n", + " The concentration of vitamin D in the blood circulation is below the lower limit of normal.\n", + " definition of HP:0100512 (Decreased circulating vitamin D concentration)\n", + " \n", + " \n", + " #Deficient in vitamin D #Low levels of vitamin D #Vitamin D deficiency\n", + " definition of HP:0100512 (Decreased circulating vitamin D concentration)\n", + " \n", + " \n", + " Abnormality of Krebs cycle metabolism\n", + " definition of HP:0000816 (Abnormality of Krebs cycle metabolism)\n", + " \n", + " \n", + " An abnormality of the tricarboxylic acid cycle.\n", + " definition of HP:0000816 (Abnormality of Krebs cycle metabolism)\n", + " \n", + " \n", + " #Abnormality of citric acid cycle #Abnormality of the tricarboxylic cycle\n", + " definition of HP:0000816 (Abnormality of Krebs cycle metabolism)\n", + " \n", + " \n", + " Secondary hypercortisolism\n", + " definition of HP:0011744 (Secondary hypercortisolism)\n", + " \n", + " \n", + " Hypercortisolemia associated with a overproduction of ACTH (often from a tumor), leading secondarily to overproduction of cortisol.\n", + " definition of HP:0011744 (Secondary hypercortisolism)\n", + " \n", + " \n", + " Mechanical entropion\n", + " definition of HP:0031738 (Mechanical entropion)\n", + " \n", + " \n", + " A type of entropion (abnormal inversion of the eyelid towards the globe) that is related to a mass effect of a lesion (e.g., a tumor) that pulls the eyelid margin away from the globe.\n", + " definition of HP:0031738 (Mechanical entropion)\n", + " \n", + " \n", + " Mandibular osteomyelitis\n", + " definition of HP:0007626 (Mandibular osteomyelitis)\n", + " \n", + " \n", + " Osteomyelitis of the lower jaw.\n", + " definition of HP:0007626 (Mandibular osteomyelitis)\n", + " \n", + " \n", + " #Lower jaw bone infection #Osteomyelitis, especially of the mandible\n", + " definition of HP:0007626 (Mandibular osteomyelitis)\n", + " \n", + " \n", + " Ovoid thoracolumbar vertebrae\n", + " definition of HP:0003309 (Ovoid thoracolumbar vertebrae)\n", + " \n", + " \n", + " #Ovoid thoracic and lumbar vertebrae\n", + " definition of HP:0003309 (Ovoid thoracolumbar vertebrae)\n", + " \n", + " \n", + " Biliary dyskinesia\n", + " definition of HP:0012396 (Biliary dyskinesia)\n", + " \n", + " \n", + " A motility disorder characterized by biliary colic in the absence of gallstones with a reduced gallbladder ejection fraction.\n", + " definition of HP:0012396 (Biliary dyskinesia)\n", + " \n", + " \n", + " Inappropriate sinus tachycardia\n", + " definition of HP:0040182 (Inappropriate sinus tachycardia)\n", + " \n", + " \n", + " Inappropriate sinus tachycardia is a nonparoxysmal tachyarrhythmia characterized by an increased resting heart rate (HR) and/or an exaggerated HR response to minimal exertion or a change in body posture. HR is constantly above the physiological range with no appropriate relation to metabolic or physiological demands.\n", + " definition of HP:0040182 (Inappropriate sinus tachycardia)\n", + " \n", + " \n", + " Skin plaque\n", + " definition of HP:0200035 (Skin plaque)\n", + " \n", + " \n", + " A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter.\n", + " definition of HP:0200035 (Skin plaque)\n", + " \n", + " \n", + " Focal cortical dysplasia type Ic\n", + " definition of HP:0032050 (Focal cortical dysplasia type Ic)\n", + " \n", + " \n", + " A subtype of focal cortical dysplasia type I that is characterized by abnormal radial and tangential cortical lamination.\n", + " definition of HP:0032050 (Focal cortical dysplasia type Ic)\n", + " \n", + " \n", + " Abnormal serum insulin-like growth factor 1 level\n", + " definition of HP:0030352 (Abnormal serum insulin-like growth factor 1 level)\n", + " \n", + " \n", + " An anomalous level of insulin-like growth factor 1 (IGF1) in the blood circulation.\n", + " definition of HP:0030352 (Abnormal serum insulin-like growth factor 1 level)\n", + " \n", + " \n", + " Duplication of middle phalanx of toe\n", + " definition of HP:0010202 (Duplication of middle phalanx of toe)\n", + " \n", + " \n", + " Partial or complete duplication of a middle phalanx of toe.\n", + " definition of HP:0010202 (Duplication of middle phalanx of toe)\n", + " \n", + " \n", + " #Partial/complete duplication of the middle bones of the toes #Partial/complete duplication of the middle phalanges of the toes\n", + " definition of HP:0010202 (Duplication of middle phalanx of toe)\n", + " \n", + " \n", + " Delayed somatosensory central conduction time\n", + " definition of HP:0100291 (Delayed somatosensory central conduction time)\n", + " \n", + " \n", + " An abnormal increase (delay) in the somatosensory central conduction time (CCT), which can be measured from the peak of N13 to the peak of N20 (peak CCT) or from the onset of N11 to the onset of N20 (onset CCT).\n", + " definition of HP:0100291 (Delayed somatosensory central conduction time)\n", + " \n", + " \n", + " Multiple bilateral congenital hypertrophy of retinal pigment epithelium\n", + " definition of HP:0011529 (Multiple bilateral congenital hypertrophy of retinal pigment epithelium)\n", + " \n", + " \n", + " Sharply demarcated hyperpigmentation which is congenital.\n", + " definition of HP:0011529 (Multiple bilateral congenital hypertrophy of retinal pigment epithelium)\n", + " \n", + " \n", + " #Multiple bilateral CHRPE\n", + " definition of HP:0011529 (Multiple bilateral congenital hypertrophy of retinal pigment epithelium)\n", + " \n", + " \n", + " Pancreatic endocrine tumor\n", + " definition of HP:0030405 (Pancreatic endocrine tumor)\n", + " \n", + " \n", + " A neuroendocrine tumor originating in a hormone-producing cell (islet cell) of the pancreas.\n", + " definition of HP:0030405 (Pancreatic endocrine tumor)\n", + " \n", + " \n", + " #Pancreatic endocrine tumour\n", + " definition of HP:0030405 (Pancreatic endocrine tumor)\n", + " \n", + " \n", + " Abnormality of the distal femoral epiphysis\n", + " definition of HP:0010590 (Abnormality of the distal femoral epiphysis)\n", + " \n", + " \n", + " Any abnormality of the distal epiphysis of the femur.\n", + " definition of HP:0010590 (Abnormality of the distal femoral epiphysis)\n", + " \n", + " \n", + " #Abnormality of the end part of the outermost thighbone\n", + " definition of HP:0010590 (Abnormality of the distal femoral epiphysis)\n", + " \n", + " \n", + " Abnormal cardiomyocyte mitochondrial morphology\n", + " definition of HP:0031335 (Abnormal cardiomyocyte mitochondrial morphology)\n", + " \n", + " \n", + " An anomaly of the structure of mitochondria within cardiomyocytes.\n", + " definition of HP:0031335 (Abnormal cardiomyocyte mitochondrial morphology)\n", + " \n", + " \n", + " Abnormal morphology of right ventricular trabeculae\n", + " definition of HP:0031193 (Abnormal morphology of right ventricular trabeculae)\n", + " \n", + " \n", + " Any structural anomaly of the muscular columns which project from the inner surface of the right ventricle of the heart (cardiac trabeculae, trabeculae carneae).\n", + " definition of HP:0031193 (Abnormal morphology of right ventricular trabeculae)\n", + " \n", + " \n", + " Inguinal hernia\n", + " definition of HP:0000023 (Inguinal hernia)\n", + " \n", + " \n", + " Protrusion of the contents of the abdominal cavity through the inguinal canal.\n", + " definition of HP:0000023 (Inguinal hernia)\n", + " \n", + " \n", + " Barking cough\n", + " definition of HP:0033121 (Barking cough)\n", + " \n", + " \n", + " A cough with a characteristic sound that has been compared to a seal's bark.\n", + " definition of HP:0033121 (Barking cough)\n", + " \n", + " \n", + " #Seal-like barking cough\n", + " definition of HP:0033121 (Barking cough)\n", + " \n", + " \n", + " Archibald's sign\n", + " definition of HP:0031809 (Archibald's sign)\n", + " \n", + " \n", + " Shortening of the fourth and fifth metacarpals when the fist is clenched.\n", + " definition of HP:0031809 (Archibald's sign)\n", + " \n", + " \n", + " #Archibald's metacarpal sign #Knuckle dimple\n", + " definition of HP:0031809 (Archibald's sign)\n", + " \n", + " \n", + " Increased HDL3a concentration\n", + " definition of HP:0032428 (Increased HDL3a concentration)\n", + " \n", + " \n", + " An elevation above the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm.\n", + " definition of HP:0032428 (Increased HDL3a concentration)\n", + " \n", + " \n", + " Rotational fracture\n", + " definition of HP:6000300 (Rotational fracture)\n", + " \n", + " \n", + " A type of displaced fracture in which there has been a rotation of the distal fracture fragment in relation to the proximal portion.\n", + " definition of HP:6000300 (Rotational fracture)\n", + " \n", + " \n", + " Poly-hill sign\n", + " definition of HP:6000504 (Poly-hill sign)\n", + " \n", + " \n", + " A typical physical examination in patients with muscular dystrophies and selective weakness and atrophy of the trapezius muscle and proximal deltoid muscle. The contour of the back shows unique hills and drops.\n", + " definition of HP:6000504 (Poly-hill sign)\n", + " \n", + " \n", + " Temporomandibular joint crepitus\n", + " definition of HP:0012479 (Temporomandibular joint crepitus)\n", + " \n", + " \n", + " Noises from the temporomandibular joint during mandibular movement (e.g., chewing). Temporomandibular joint crepitus is often described as a clicking, popping, grating sound.\n", + " definition of HP:0012479 (Temporomandibular joint crepitus)\n", + " \n", + " \n", + " #Jaw joint crepitus\n", + " definition of HP:0012479 (Temporomandibular joint crepitus)\n", + " \n", + " \n", + " Decreased dendritic spine number\n", + " definition of HP:0034005 (Decreased dendritic spine number)\n", + " \n", + " \n", + " An abnormal reduction in the amount of spines on a given dendrite.\n", + " definition of HP:0034005 (Decreased dendritic spine number)\n", + " \n", + " \n", + " Triggering by ocular trauma\n", + " definition of HP:6000711 (Triggering by ocular trauma)\n", + " \n", + " \n", + " Applies to a sign or symptom that is provoked or brought about by trauma to the eye.\n", + " definition of HP:6000711 (Triggering by ocular trauma)\n", + " \n", + " \n", + " Duplication of the middle phalanx of the 4th toe\n", + " definition of HP:0100402 (Duplication of the middle phalanx of the 4th toe)\n", + " \n", + " \n", + " Partial or complete duplication of middle phalanx of fourth toe.\n", + " definition of HP:0100402 (Duplication of the middle phalanx of the 4th toe)\n", + " \n", + " \n", + " #Duplication of the middle bone of the 4th toe #Duplication of the middle phalanx of the fourth toe #Partial/complete duplication of the middle phalanx of the 4th toe\n", + " definition of HP:0100402 (Duplication of the middle phalanx of the 4th toe)\n", + " \n", + " \n", + " Pulmonary artery sling\n", + " definition of HP:0004961 (Pulmonary artery sling)\n", + " \n", + " \n", + " An anomalous origin of the left pulmonary artery, such that it arises from the posterior aspect of the right pulmonary artery and passes between the trachea and esophagus to reach the left hilum.\n", + " definition of HP:0004961 (Pulmonary artery sling)\n", + " \n", + " \n", + " Sulfocysteinuria\n", + " definition of HP:0032350 (Sulfocysteinuria)\n", + " \n", + " \n", + " A increased concentration of sulfocysteine in the urine.\n", + " definition of HP:0032350 (Sulfocysteinuria)\n", + " \n", + " \n", + " Fibrosarcoma\n", + " definition of HP:0100244 (Fibrosarcoma)\n", + " \n", + " \n", + " A fibroblastic sarcoma is a malignant tumor derived from fibrous connective tissue and characterized by immature proliferating fibroblasts or undifferentiated anaplastic spindle cells.\n", + " definition of HP:0100244 (Fibrosarcoma)\n", + " \n", + " \n", + " Skin pit\n", + " definition of HP:0100276 (Skin pit)\n", + " \n", + " \n", + " A small, skin-lined tract that leads from the surface to deep within the tissues.\n", + " definition of HP:0100276 (Skin pit)\n", + " \n", + " \n", + " #Skin pit\n", + " definition of HP:0100276 (Skin pit)\n", + " \n", + " \n", + " Partial duplication of the proximal phalanx of the 5th toe\n", + " definition of HP:0100424 (Partial duplication of the proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " Partial duplication of the proximal phalanx of fifth toe.\n", + " definition of HP:0100424 (Partial duplication of the proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " #Partial duplication of the innermost bone of the little toe #Partial duplication of the innermost bone of the pinkie toe #Partial duplication of the innermost bone of the pinky toe #Partial duplication of the proximal phalanx of the fifth toe\n", + " definition of HP:0100424 (Partial duplication of the proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " Dysphonia\n", + " definition of HP:0001618 (Dysphonia)\n", + " \n", + " \n", + " Difficulty in speaking due to a physical disorder of the mouth, tongue, throat, or vocal cords. Associated with a known physical or neurological cause.\n", + " definition of HP:0001618 (Dysphonia)\n", + " \n", + " \n", + " #Inability to produce voice sounds #Voice change\n", + " definition of HP:0001618 (Dysphonia)\n", + " \n", + " \n", + " Lipiduria\n", + " definition of HP:0032567 (Lipiduria)\n", + " \n", + " \n", + " An increased lipid content in the urine.\n", + " definition of HP:0032567 (Lipiduria)\n", + " \n", + " \n", + " #Urinary lipid excretion\n", + " definition of HP:0032567 (Lipiduria)\n", + " \n", + " \n", + " Dermal microfilaria\n", + " definition of HP:0034641 (Dermal microfilaria)\n", + " \n", + " \n", + " Presence of filariae in the skin.\n", + " definition of HP:0034641 (Dermal microfilaria)\n", + " \n", + " \n", + " #Dermal microfilariae\n", + " definition of HP:0034641 (Dermal microfilaria)\n", + " \n", + " \n", + " Focal aware sensory seizure with somatosensory features\n", + " definition of HP:0032884 (Focal aware sensory seizure with somatosensory features)\n", + " \n", + " \n", + " A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move. Awareness is retained throughout the seizure.\n", + " definition of HP:0032884 (Focal aware sensory seizure with somatosensory features)\n", + " \n", + " \n", + " Painless fractures due to injury\n", + " definition of HP:0002661 (Painless fractures due to injury)\n", + " \n", + " \n", + " An increased tendency to fractures following trauma, with fractures occurring without pain.\n", + " definition of HP:0002661 (Painless fractures due to injury)\n", + " \n", + " \n", + " #Painless fractures due to injury\n", + " definition of HP:0002661 (Painless fractures due to injury)\n", + " \n", + " \n", + " Abnormal circulating selenium concentration\n", + " definition of HP:0031903 (Abnormal circulating selenium concentration)\n", + " \n", + " \n", + " Any deviation from the normal circulating concentration of selenium.\n", + " definition of HP:0031903 (Abnormal circulating selenium concentration)\n", + " \n", + " \n", + " #Abnormal serum selenium concentration\n", + " definition of HP:0031903 (Abnormal circulating selenium concentration)\n", + " \n", + " \n", + " Congenital absence of foreskin\n", + " definition of HP:0012421 (Congenital absence of foreskin)\n", + " \n", + " \n", + " Congenital lack of the skin of prepuce of penis, that is, of the double-layered fold of skin and mucous membrane that covers the glans penis.\n", + " definition of HP:0012421 (Congenital absence of foreskin)\n", + " \n", + " \n", + " #Absent foreskin #Aposthia\n", + " definition of HP:0012421 (Congenital absence of foreskin)\n", + " \n", + " \n", + " Posteriorly placed tongue\n", + " definition of HP:0009087 (Posteriorly placed tongue)\n", + " \n", + " \n", + " #Posteriorly placed tongue\n", + " definition of HP:0009087 (Posteriorly placed tongue)\n", + " \n", + " \n", + " Triangular epiphysis of the distal phalanx of the 4th finger\n", + " definition of HP:0009260 (Triangular epiphysis of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " A triangular appearance of the epiphysis of the distal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.\n", + " definition of HP:0009260 (Triangular epiphysis of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " #Delta-shaped epiphysis of the distal phalanx of the 4th finger #Triangular end part of the outermost bone of ring finger\n", + " definition of HP:0009260 (Triangular epiphysis of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " Abdominal rigidity\n", + " definition of HP:0032545 (Abdominal rigidity)\n", + " \n", + " \n", + " Involuntary tightening of the abdominal musculature that occurs in response to touching the abdomen to avoid pain. Rigidity can occur in the presence of abdominal inflammation and usually involves only the inflamed area.\n", + " definition of HP:0032545 (Abdominal rigidity)\n", + " \n", + " \n", + " #Rigid abdomen\n", + " definition of HP:0032545 (Abdominal rigidity)\n", + " \n", + " \n", + " Hilar lymph node enlargement\n", + " definition of HP:0034388 (Hilar lymph node enlargement)\n", + " \n", + " \n", + " Hilar lymphadenopathy is swelling or enlargement of lymph nodes localized in hila, wedge-shaped anatomical structures containing pulmonary vessels, major bronchi, nerves and lymph nodes. Hilar lymph nodes are not visible on chest X-ray if they are not enlarged. Hilar lymph node enlargement can be caused by benign and malignant conditions and can be symmetrical (bilateral) or asymmetrical (unilateral).\n", + " definition of HP:0034388 (Hilar lymph node enlargement)\n", + " \n", + " \n", + " #Hilar adenopathy #Hilar lymphadenopathy\n", + " definition of HP:0034388 (Hilar lymph node enlargement)\n", + " \n", + " \n", + " Abnormality of the lymphatic system\n", + " definition of HP:0100763 (Abnormality of the lymphatic system)\n", + " \n", + " \n", + " An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively.\n", + " definition of HP:0100763 (Abnormality of the lymphatic system)\n", + " \n", + " \n", + " Generalized seborrheic dermatitis\n", + " definition of HP:0007569 (Generalized seborrheic dermatitis)\n", + " \n", + " \n", + " Seborrheic dermatitis that is not localized to any one particular region.\n", + " definition of HP:0007569 (Generalized seborrheic dermatitis)\n", + " \n", + " \n", + " #Generalised seborrheic dermatitis #Generalised seborrheic eczema #Generalized seborrheic eczema\n", + " definition of HP:0007569 (Generalized seborrheic dermatitis)\n", + " \n", + " \n", + " Radial deviation of the hand\n", + " definition of HP:0009486 (Radial deviation of the hand)\n", + " \n", + " \n", + " An abnormal position of the hand in which the wrist is bent toward the radius (i.e., toward the thumb).\n", + " definition of HP:0009486 (Radial deviation of the hand)\n", + " \n", + " \n", + " #Radial deviation of hands\n", + " definition of HP:0009486 (Radial deviation of the hand)\n", + " \n", + " \n", + " Abnormal plasmablast proportion\n", + " definition of HP:0032127 (Abnormal plasmablast proportion)\n", + " \n", + " \n", + " A deviation from the normal proportion of plasmablasts in circulation relative to total number of B cells. Plasmablasts are antibody-secreting cells that originate after infection or vaccination.\n", + " definition of HP:0032127 (Abnormal plasmablast proportion)\n", + " \n", + " \n", + " Reduced total lung capacity\n", + " definition of HP:0033169 (Reduced total lung capacity)\n", + " \n", + " \n", + " Abnormally reduced volume of air in the lungs upon the maximum effort of inspiration.\n", + " definition of HP:0033169 (Reduced total lung capacity)\n", + " \n", + " \n", + " #Reduced TLC\n", + " definition of HP:0033169 (Reduced total lung capacity)\n", + " \n", + " \n", + " Reduced platelet alpha granules\n", + " definition of HP:0033536 (Reduced platelet alpha granules)\n", + " \n", + " \n", + " A reduced number of platelet alpha granules.\n", + " definition of HP:0033536 (Reduced platelet alpha granules)\n", + " \n", + " \n", + " Myocardial steatosis\n", + " definition of HP:0006693 (Myocardial steatosis)\n", + " \n", + " \n", + " Steatosis in the myocardium.\n", + " definition of HP:0006693 (Myocardial steatosis)\n", + " \n", + " \n", + " J wave\n", + " definition of HP:0012272 (J wave)\n", + " \n", + " \n", + " The J wave is a positive convex deflection that occurs at the junction of the QRS complex and ST segment, the J-point.\n", + " definition of HP:0012272 (J wave)\n", + " \n", + " \n", + " #EKG J waves #Osborne waves\n", + " definition of HP:0012272 (J wave)\n", + " \n", + " \n", + " 1-minute APGAR score of 5\n", + " definition of HP:0030932 (1-minute APGAR score of 5)\n", + " \n", + " \n", + " Lymphocytic infiltration of the parotid gland\n", + " definition of HP:6000153 (Lymphocytic infiltration of the parotid gland)\n", + " \n", + " \n", + " Accumulation of lymphocytes in the parotid gland. This feature is generally defined as a count of lymphocytes per area that is above normal limits on histopathological examination.\n", + " definition of HP:6000153 (Lymphocytic infiltration of the parotid gland)\n", + " \n", + " \n", + " Fast-growing nails\n", + " definition of HP:0030806 (Fast-growing nails)\n", + " \n", + " \n", + " Nails whose growth is quicker than normal.\n", + " definition of HP:0030806 (Fast-growing nails)\n", + " \n", + " \n", + " Orbital craniosynostosis\n", + " definition of HP:0005472 (Orbital craniosynostosis)\n", + " \n", + " \n", + " Anti-arbovirus antibody positivity\n", + " definition of HP:0430083 (Anti-arbovirus antibody positivity)\n", + " \n", + " \n", + " The presence of antibodies in the blood circulation that react against a component of an Arbovirus.\n", + " definition of HP:0430083 (Anti-arbovirus antibody positivity)\n", + " \n", + " \n", + " Reduced methylmalonate semialdehyde dehydrogenase activity in cultured fibroblasts\n", + " definition of HP:6000219 (Reduced methylmalonate semialdehyde dehydrogenase activity in cultured fibroblasts)\n", + " \n", + " \n", + " The activity of methylmalonate semialdehyde dehydrogenase ( EC 1.2.1.27) in cultured fibroblasts is below the lower limit of normal.\n", + " definition of HP:6000219 (Reduced methylmalonate semialdehyde dehydrogenase activity in cultured fibroblasts)\n", + " \n", + " \n", + " #Methylmalonic semialdehyde dehydrogenase deficiency\n", + " definition of HP:6000219 (Reduced methylmalonate semialdehyde dehydrogenase activity in cultured fibroblasts)\n", + " \n", + " \n", + " Marginal umbilical cord insertion\n", + " definition of HP:0030658 (Marginal umbilical cord insertion)\n", + " \n", + " \n", + " Insertion of the umbilical cord within 2 cm from the placental edge.\n", + " definition of HP:0030658 (Marginal umbilical cord insertion)\n", + " \n", + " \n", + " #Battledore placenta #Marginal cord insertion\n", + " definition of HP:0030658 (Marginal umbilical cord insertion)\n", + " \n", + " \n", + " Anti-potassium channel tetramerization domain containing 16 antibody positivity\n", + " definition of HP:6000878 (Anti-potassium channel tetramerization domain containing 16 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against potassium channel tetramerization domain containing 16 (KCTD16).\n", + " definition of HP:6000878 (Anti-potassium channel tetramerization domain containing 16 antibody positivity)\n", + " \n", + " \n", + " #Anti-KCTD16\n", + " definition of HP:6000878 (Anti-potassium channel tetramerization domain containing 16 antibody positivity)\n", + " \n", + " \n", + " Retinal flecks\n", + " definition of HP:0012045 (Retinal flecks)\n", + " \n", + " \n", + " Presence of multiple yellowish-white lesions of various size and configuration on the retina not related to vascular lesions.\n", + " definition of HP:0012045 (Retinal flecks)\n", + " \n", + " \n", + " Macular atrophy\n", + " definition of HP:0007401 (Macular atrophy)\n", + " \n", + " \n", + " Well-demarcated area(s) of partial or complete depigmentation in the macula, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.\n", + " definition of HP:0007401 (Macular atrophy)\n", + " \n", + " \n", + " Forceps delivery\n", + " definition of HP:0011411 (Forceps delivery)\n", + " \n", + " \n", + " #Forceps delivery\n", + " definition of HP:0011411 (Forceps delivery)\n", + " \n", + " \n", + " Abnormal fecal osmolality\n", + " definition of HP:0032485 (Abnormal fecal osmolality)\n", + " \n", + " \n", + " Abnormal concentration of feces as assessed by the total number of solute particles per kilogram.\n", + " definition of HP:0032485 (Abnormal fecal osmolality)\n", + " \n", + " \n", + " #Abnormal faecal osmolality\n", + " definition of HP:0032485 (Abnormal fecal osmolality)\n", + " \n", + " \n", + " Glucagonoma\n", + " definition of HP:0030404 (Glucagonoma)\n", + " \n", + " \n", + " An endocrine tumor of the pancreas that secretes excessive amounts of glucagon.\n", + " definition of HP:0030404 (Glucagonoma)\n", + " \n", + " \n", + " Cognitive epileptic aura\n", + " definition of HP:0033347 (Cognitive epileptic aura)\n", + " \n", + " \n", + " A purely subjective manifestation of an epileptic seizure pertaining to altered cognition.\n", + " definition of HP:0033347 (Cognitive epileptic aura)\n", + " \n", + " \n", + " Abnormal response to gonadotropin-releasing hormone stimulation test\n", + " definition of HP:0031279 (Abnormal response to gonadotropin-releasing hormone stimulation test)\n", + " \n", + " \n", + " An abnormal response to the gonadotropin-releasing hormone (GnRH) stimulation test. This test typically involves intravenous administration of GnRH followed by repeated blood sampling at various time points to measure the levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH).\n", + " definition of HP:0031279 (Abnormal response to gonadotropin-releasing hormone stimulation test)\n", + " \n", + " \n", + " #Abnormal response to GnRH stimulation test\n", + " definition of HP:0031279 (Abnormal response to gonadotropin-releasing hormone stimulation test)\n", + " \n", + " \n", + " Irregularly spaced teeth\n", + " definition of HP:0006316 (Irregularly spaced teeth)\n", + " \n", + " \n", + " Irregular distribution of the teeth along the dental arch, i.e., and irregular spatial pattern of teeth.\n", + " definition of HP:0006316 (Irregularly spaced teeth)\n", + " \n", + " \n", + " #Irregular dental spacing #Irregularly spaced teeth #Variability of dental spacing #Variability of spacing between teeth\n", + " definition of HP:0006316 (Irregularly spaced teeth)\n", + " \n", + " \n", + " Impaired myocardial contractility\n", + " definition of HP:0006670 (Impaired myocardial contractility)\n", + " \n", + " \n", + " Stippling of the epiphysis of the proximal phalanx of the 4th finger\n", + " definition of HP:0009270 (Stippling of the epiphysis of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 4th finger.\n", + " definition of HP:0009270 (Stippling of the epiphysis of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " #Speckled calcifications in end part of the innermost bone of ring finger\n", + " definition of HP:0009270 (Stippling of the epiphysis of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " Abnormal stapes morphology\n", + " definition of HP:0008628 (Abnormal stapes morphology)\n", + " \n", + " \n", + " An abnormality of the stapes, a stirrup-shaped ossicle in the middle ear.\n", + " definition of HP:0008628 (Abnormal stapes morphology)\n", + " \n", + " \n", + " #Stapedial abnormalities\n", + " definition of HP:0008628 (Abnormal stapes morphology)\n", + " \n", + " \n", + " Increased serum zinc\n", + " definition of HP:0011424 (Increased serum zinc)\n", + " \n", + " \n", + " An increased concentration of zinc in the blood.\n", + " definition of HP:0011424 (Increased serum zinc)\n", + " \n", + " \n", + " #Hyperzincemia\n", + " definition of HP:0011424 (Increased serum zinc)\n", + " \n", + " \n", + " Peripheral arterial stenosis\n", + " definition of HP:0004950 (Peripheral arterial stenosis)\n", + " \n", + " \n", + " Narrowing of peripheral arteries with reduction of blood flow to the limbs. This feature may be quantified as an ankle-brachial index of less than 0.9, and may be manifested clinically as claudication.\n", + " definition of HP:0004950 (Peripheral arterial stenosis)\n", + " \n", + " \n", + " #Peripheral artery disease\n", + " definition of HP:0004950 (Peripheral arterial stenosis)\n", + " \n", + " \n", + " Increased proportion of marginal zone B cells\n", + " definition of HP:0030385 (Increased proportion of marginal zone B cells)\n", + " \n", + " \n", + " An elevation in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells.\n", + " definition of HP:0030385 (Increased proportion of marginal zone B cells)\n", + " \n", + " \n", + " Positive bloodstream EBV monospot test\n", + " definition of HP:6000923 (Positive bloodstream EBV monospot test)\n", + " \n", + " \n", + " The monospot test is a latex agglutination test which utilizes equine erythrocytes as the primary substrate and tests for specific heterophile antibodies produced by the human immune system in response to EBV infection. When these specific antibodies are present in the patient's blood specimen, exposure to equine erythrocytes will lead to clumping of the sample, thus signaling a positive agglutination reaction.\n", + " definition of HP:6000923 (Positive bloodstream EBV monospot test)\n", + " \n", + " \n", + " Sea-blue histiocytosis\n", + " definition of HP:0001982 (Sea-blue histiocytosis)\n", + " \n", + " \n", + " An abnormality of histiocytes, in which the cells take on a sea blue appearance due to abnormally increased lipid content. Histiocytes are a type of macrophage. Sea-blue histiocytes are typically large macrophages from 20 to 60 micrometers in diameter with a single eccentric nucleus whose cytoplasm if packed with sea-blue or blue-green granules when stained with Wright-Giemsa.\n", + " definition of HP:0001982 (Sea-blue histiocytosis)\n", + " \n", + " \n", + " #Sea-blue histiocyte\n", + " definition of HP:0001982 (Sea-blue histiocytosis)\n", + " \n", + " \n", + " Short middle phalanx of the 3rd toe\n", + " definition of HP:0100392 (Short middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " Developmental hypoplasia of the middle phalanx of third toe.\n", + " definition of HP:0100392 (Short middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Hypoplastic/small middle phalanx of the 3rd toe #Short middle phalanx of the third toe\n", + " definition of HP:0100392 (Short middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " Enlarged epiphyses of the proximal phalanges of the hand\n", + " definition of HP:0010271 (Enlarged epiphyses of the proximal phalanges of the hand)\n", + " \n", + " \n", + " #Enlarged end part of the innermost hand bones\n", + " definition of HP:0010271 (Enlarged epiphyses of the proximal phalanges of the hand)\n", + " \n", + " \n", + " Imperforate tricuspid valve\n", + " definition of HP:0011575 (Imperforate tricuspid valve)\n", + " \n", + " \n", + " A tricuspid valve that has failed to open.\n", + " definition of HP:0011575 (Imperforate tricuspid valve)\n", + " \n", + " \n", + " #Unopened tricuspid valve\n", + " definition of HP:0011575 (Imperforate tricuspid valve)\n", + " \n", + " \n", + " Abnormally lax or hyperextensible skin\n", + " definition of HP:0008067 (Abnormally lax or hyperextensible skin)\n", + " \n", + " \n", + " #Abnormally loose or hyperelastic skin #Abnormally loose or stretchable skin\n", + " definition of HP:0008067 (Abnormally lax or hyperextensible skin)\n", + " \n", + " \n", + " Open angle glaucoma\n", + " definition of HP:0012108 (Open angle glaucoma)\n", + " \n", + " \n", + " A type of glaucoma defined by an open, normal appearing anterior chamber angle and raised intraocular pressure,\n", + " definition of HP:0012108 (Open angle glaucoma)\n", + " \n", + " \n", + " Retinal arteriolar occlusion\n", + " definition of HP:0007985 (Retinal arteriolar occlusion)\n", + " \n", + " \n", + " Blockage of retinal arteriole, generally associated with interruption of blood flow and oxygen delivery to affected regions of the retina.\n", + " definition of HP:0007985 (Retinal arteriolar occlusion)\n", + " \n", + " \n", + " #Blocked retinal artery\n", + " definition of HP:0007985 (Retinal arteriolar occlusion)\n", + " \n", + " \n", + " Horizontal incomitant strabismus\n", + " definition of HP:0020044 (Horizontal incomitant strabismus)\n", + " \n", + " \n", + " Wide penis\n", + " definition of HP:0030265 (Wide penis)\n", + " \n", + " \n", + " Distance between left and right side of the flaccid penis at the attachment to the skin above the pubic symphysis more than 2 standard deviations above the mean for age.\n", + " definition of HP:0030265 (Wide penis)\n", + " \n", + " \n", + " #Wide penis\n", + " definition of HP:0030265 (Wide penis)\n", + " \n", + " \n", + " Statin exposure\n", + " definition of HP:4000114 (Statin exposure)\n", + " \n", + " \n", + " History of having taken statins, also known as HMG-CoA reductase inhibitors.\n", + " definition of HP:4000114 (Statin exposure)\n", + " \n", + " \n", + " Abnormal cognitive process\n", + " definition of HP:0025792 (Abnormal cognitive process)\n", + " \n", + " \n", + " Fractured shoulder\n", + " definition of HP:0041217 (Fractured shoulder)\n", + " \n", + " \n", + " A fracture or multiple fractures of the humerus (ball) or the glenoid (socket) of the shoulder joint.\n", + " definition of HP:0041217 (Fractured shoulder)\n", + " \n", + " \n", + " #bone shoulder joint\n", + " definition of HP:0041217 (Fractured shoulder)\n", + " \n", + " \n", + " Onychomycosis\n", + " definition of HP:0012203 (Onychomycosis)\n", + " \n", + " \n", + " A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split.\n", + " definition of HP:0012203 (Onychomycosis)\n", + " \n", + " \n", + " Ectopic pregnancy\n", + " definition of HP:0031456 (Ectopic pregnancy)\n", + " \n", + " \n", + " A pregnancy in which the fertilized egg inserts in a location outside of the main cavity of the uterus (usually in the Fallopian tube).\n", + " definition of HP:0031456 (Ectopic pregnancy)\n", + " \n", + " \n", + " Elevated urinary N-butyrylglycine\n", + " definition of HP:0025638 (Elevated urinary N-butyrylglycine)\n", + " \n", + " \n", + " An increased level of N-butyrylglycine in the urine.\n", + " definition of HP:0025638 (Elevated urinary N-butyrylglycine)\n", + " \n", + " \n", + " Tricuspid valve prolapse\n", + " definition of HP:0001704 (Tricuspid valve prolapse)\n", + " \n", + " \n", + " One or more of the leaflets (cusps) of the tricuspid valve bulges back into the right atrium upon contraction of the right ventricle.\n", + " definition of HP:0001704 (Tricuspid valve prolapse)\n", + " \n", + " \n", + " Positive cold agglutinin test\n", + " definition of HP:6000386 (Positive cold agglutinin test)\n", + " \n", + " \n", + " Cold agglutinin are erythrocyte antibodies which possess the property of agglutinating red blood cells at temperatures of below 37 degrees C, this phenomenon is reversible after heating.\n", + " definition of HP:6000386 (Positive cold agglutinin test)\n", + " \n", + " \n", + " Patchy sclerosis of middle phalanx of finger\n", + " definition of HP:0009848 (Patchy sclerosis of middle phalanx of finger)\n", + " \n", + " \n", + " Uneven (irregular) increase in bone density of one or more of the middle phalanges of the hand.\n", + " definition of HP:0009848 (Patchy sclerosis of middle phalanx of finger)\n", + " \n", + " \n", + " #Patchy sclerosis of the middle phalanges of the hand #Uneven increase in bone density in the middle finger bones of the hand\n", + " definition of HP:0009848 (Patchy sclerosis of middle phalanx of finger)\n", + " \n", + " \n", + " Triangular shaped 1st metatarsal\n", + " definition of HP:0010074 (Triangular shaped 1st metatarsal)\n", + " \n", + " \n", + " #Triangular shaped 1st long bone of foot\n", + " definition of HP:0010074 (Triangular shaped 1st metatarsal)\n", + " \n", + " \n", + " Flat acetabular roof\n", + " definition of HP:0003180 (Flat acetabular roof)\n", + " \n", + " \n", + " Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does.\n", + " definition of HP:0003180 (Flat acetabular roof)\n", + " \n", + " \n", + " #Acetabular angle flat #Flat acetabular roofs #Flattened acetabular roof #Horizontal acetabulae #Horizontal acetabular roof #Horizontal acetabular roofs\n", + " definition of HP:0003180 (Flat acetabular roof)\n", + " \n", + " \n", + " Anti-Treponema pallidum antibody positivity\n", + " definition of HP:6000926 (Anti-Treponema pallidum antibody positivity)\n", + " \n", + " \n", + " The presence of antibodies in the blood circulation that react against a component of Treponema pallidum.\n", + " definition of HP:6000926 (Anti-Treponema pallidum antibody positivity)\n", + " \n", + " \n", + " #Positive Fluorescent treponemal antibody absorption test #Positive Treponema pallidum hemoagglutination assay #Treponemal antibody titer high in blood\n", + " definition of HP:6000926 (Anti-Treponema pallidum antibody positivity)\n", + " \n", + " \n", + " Abnormal serum estriol\n", + " definition of HP:0025135 (Abnormal serum estriol)\n", + " \n", + " \n", + " A deviation from normal concentration of estriol in the circulation.\n", + " definition of HP:0025135 (Abnormal serum estriol)\n", + " \n", + " \n", + " Ovarian serous cystadenoma\n", + " definition of HP:0012887 (Ovarian serous cystadenoma)\n", + " \n", + " \n", + " A cystic tumor of the ovary, containing thin, clear, yellow serous fluid and varying amounts of solid tissue.\n", + " definition of HP:0012887 (Ovarian serous cystadenoma)\n", + " \n", + " \n", + " Fragmented, irregular epiphyses\n", + " definition of HP:0005063 (Fragmented, irregular epiphyses)\n", + " \n", + " \n", + " #Fragmented, irregular end part of bone\n", + " definition of HP:0005063 (Fragmented, irregular epiphyses)\n", + " \n", + " \n", + " Fragmentation of the epiphysis of the distal phalanx of the 2nd finger\n", + " definition of HP:0009506 (Fragmentation of the epiphysis of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Fragmented appearance of the epiphysis of the distal phalanx of the 2nd finger.\n", + " definition of HP:0009506 (Fragmentation of the epiphysis of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Fragmentation of end part of the outermost bone of the index finger\n", + " definition of HP:0009506 (Fragmentation of the epiphysis of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Lobar holoprosencephaly\n", + " definition of HP:0006870 (Lobar holoprosencephaly)\n", + " \n", + " \n", + " A type of holoprosencephaly in which most of the right and left cerebral hemispheres and lateral ventricles are separated but the most rostral aspect of the telencephalon, the frontal lobes, are fused, especially ventrally.\n", + " definition of HP:0006870 (Lobar holoprosencephaly)\n", + " \n", + " \n", + " Response to drugs acting on neuromuscular transmission\n", + " definition of HP:0030201 (Response to drugs acting on neuromuscular transmission)\n", + " \n", + " \n", + " Specific drugs interfere selectively with the different cellular mechanisms involved in neuromuscular transmission (synthesis, storage, release, action and inactivation of transmitter). The response of a patient to a specific drug can therefore be useful information for the differential diagnosis.\n", + " definition of HP:0030201 (Response to drugs acting on neuromuscular transmission)\n", + " \n", + " \n", + " Abnormal middle ear morphology\n", + " definition of HP:0008609 (Abnormal middle ear morphology)\n", + " \n", + " \n", + " An abnormality of the morphology or structure of the middle ear.\n", + " definition of HP:0008609 (Abnormal middle ear morphology)\n", + " \n", + " \n", + " #Middle ear malformation #Morphological abnormality of the middle ear\n", + " definition of HP:0008609 (Abnormal middle ear morphology)\n", + " \n", + " \n", + " Tinnitus\n", + " definition of HP:0000360 (Tinnitus)\n", + " \n", + " \n", + " Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.\n", + " definition of HP:0000360 (Tinnitus)\n", + " \n", + " \n", + " #Ringing in ears #Ringing in the ears\n", + " definition of HP:0000360 (Tinnitus)\n", + " \n", + " \n", + " Fetal intracranial hemorrhage\n", + " definition of HP:0034208 (Fetal intracranial hemorrhage)\n", + " \n", + " \n", + " Abnormal bleeding inside the skull (cranium) of a fetus.\n", + " definition of HP:0034208 (Fetal intracranial hemorrhage)\n", + " \n", + " \n", + " Premature osteoarthritis\n", + " definition of HP:0003088 (Premature osteoarthritis)\n", + " \n", + " \n", + " #Premature arthritis #Premature osteoarthritis\n", + " definition of HP:0003088 (Premature osteoarthritis)\n", + " \n", + " \n", + " Abnormal Bowman capsule morphology\n", + " definition of HP:0031264 (Abnormal Bowman capsule morphology)\n", + " \n", + " \n", + " A structural anomaly of the double-walled capsule (Bowman capsule) that opens into a renal tubule.\n", + " definition of HP:0031264 (Abnormal Bowman capsule morphology)\n", + " \n", + " \n", + " #Abnormal morphology of Bowman capsule #Abnormal morphology of Bowman's capsule #Abnormal renal glomerular capsule morphology\n", + " definition of HP:0031264 (Abnormal Bowman capsule morphology)\n", + " \n", + " \n", + " Apically displaced anterolateral papillary muscle\n", + " definition of HP:0025449 (Apically displaced anterolateral papillary muscle)\n", + " \n", + " \n", + " Abnormal location of the insertion of the anterolateral papillary muscle near to the apex of the left ventricle. This feature may be appreciated by noting that this muscle is usually not seen in the apical level of the parasternal short-axis echocardiographic view,\n", + " definition of HP:0025449 (Apically displaced anterolateral papillary muscle)\n", + " \n", + " \n", + " #Apically displaced papillary muscles\n", + " definition of HP:0025449 (Apically displaced anterolateral papillary muscle)\n", + " \n", + " \n", + " Distal lower limb amyotrophy\n", + " definition of HP:0008944 (Distal lower limb amyotrophy)\n", + " \n", + " \n", + " Muscular atrophy of distal leg muscles.\n", + " definition of HP:0008944 (Distal lower limb amyotrophy)\n", + " \n", + " \n", + " #Lower leg amyotrophy #Lower limb degeneration #Muscle atrophy, lower limb, distal\n", + " definition of HP:0008944 (Distal lower limb amyotrophy)\n", + " \n", + " \n", + " Abnormality of the vasculature\n", + " definition of HP:0002597 (Abnormality of the vasculature)\n", + " \n", + " \n", + " An abnormality of the vasculature.\n", + " definition of HP:0002597 (Abnormality of the vasculature)\n", + " \n", + " \n", + " #Abnormality of blood vessels #Abnormality of the vasculature #Vascular abnormalities\n", + " definition of HP:0002597 (Abnormality of the vasculature)\n", + " \n", + " \n", + " Lacticaciduria\n", + " definition of HP:0003648 (Lacticaciduria)\n", + " \n", + " \n", + " An increased concentration of lactic acid in the urine.\n", + " definition of HP:0003648 (Lacticaciduria)\n", + " \n", + " \n", + " #High urine lactic acid levels #Increased urine lactate\n", + " definition of HP:0003648 (Lacticaciduria)\n", + " \n", + " \n", + " Exanthem\n", + " definition of HP:4000054 (Exanthem)\n", + " \n", + " \n", + " A widespread rash.\n", + " definition of HP:4000054 (Exanthem)\n", + " \n", + " \n", + " Elevated urinary 2,8-dihydroxyadenine level\n", + " definition of HP:6000803 (Elevated urinary 2,8-dihydroxyadenine level)\n", + " \n", + " \n", + " The amount of 2,8-dihydroxyadenine in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000803 (Elevated urinary 2,8-dihydroxyadenine level)\n", + " \n", + " \n", + " Increased proportion of immature B cells\n", + " definition of HP:0030377 (Increased proportion of immature B cells)\n", + " \n", + " \n", + " An elevation in the proportion above normal of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+).\n", + " definition of HP:0030377 (Increased proportion of immature B cells)\n", + " \n", + " \n", + " #Increased proportion of CD19+/CD21low B cells\n", + " definition of HP:0030377 (Increased proportion of immature B cells)\n", + " \n", + " \n", + " Color vision defect\n", + " definition of HP:0000551 (Color vision defect)\n", + " \n", + " \n", + " An anomaly in the ability to discriminate between or recognize colors.\n", + " definition of HP:0000551 (Color vision defect)\n", + " \n", + " \n", + " #Abnormal color vision #Abnormal colour vision #Abnormality of color vision #Abnormality of colour vision #Colour vision defect #Disturbed color vision #Disturbed colour vision\n", + " definition of HP:0000551 (Color vision defect)\n", + " \n", + " \n", + " Absent dermoepidermal hemidesmosomes\n", + " definition of HP:0034256 (Absent dermoepidermal hemidesmosomes)\n", + " \n", + " \n", + " Lack of demonstrable hemidesmosomes at the dermoepidermal junction. Hemidesmosomes are the specialized junctional complexes, that contribute to the attachment of epithelial cells to the underlying basement membrane in stratified and other complex epithelia, such as the skin.\n", + " definition of HP:0034256 (Absent dermoepidermal hemidesmosomes)\n", + " \n", + " \n", + " Decreased proportion of gamma-delta T cells\n", + " definition of HP:0500271 (Decreased proportion of gamma-delta T cells)\n", + " \n", + " \n", + " Decreased proportion of gamma-delta T cells relative to the total number of T cells.\n", + " definition of HP:0500271 (Decreased proportion of gamma-delta T cells)\n", + " \n", + " \n", + " #Decreased proportion of gamma-delta T lymphocytes #Decreased proportion of gamma-delta T-cells #Decreased proportion of gamma-delta T-lymphocytes #Decreased proportion of gammadelta T cells #Reduced proportion of gamma-delta T cells\n", + " definition of HP:0500271 (Decreased proportion of gamma-delta T cells)\n", + " \n", + " \n", + " Sclerotic cranial sutures\n", + " definition of HP:0005441 (Sclerotic cranial sutures)\n", + " \n", + " \n", + " An increased density in the cranial sutures following obliteration.\n", + " definition of HP:0005441 (Sclerotic cranial sutures)\n", + " \n", + " \n", + " Asymmetry of the mouth\n", + " definition of HP:0009941 (Asymmetry of the mouth)\n", + " \n", + " \n", + " The presence of an asymmetric mouth.\n", + " definition of HP:0009941 (Asymmetry of the mouth)\n", + " \n", + " \n", + " #Asymmetry of the mouth #Canted mouth #Crooked mouth #Tilted mouth #Uneven mouth\n", + " definition of HP:0009941 (Asymmetry of the mouth)\n", + " \n", + " \n", + " Abnormal demeanor\n", + " definition of HP:5200261 (Abnormal demeanor)\n", + " \n", + " \n", + " An anomaly in demeanor, which refers to the outward behavior, manner, or conduct of a person. It encompasses how an individual presents themselves to others in terms of attitude, posture, and general comportment.\n", + " definition of HP:5200261 (Abnormal demeanor)\n", + " \n", + " \n", + " 3-Methylglutaconic aciduria\n", + " definition of HP:0003535 (3-Methylglutaconic aciduria)\n", + " \n", + " \n", + " An increased amount of 3-methylglutaconic acid in the urine.\n", + " definition of HP:0003535 (3-Methylglutaconic aciduria)\n", + " \n", + " \n", + " #3-Methylglutaconicaciduria\n", + " definition of HP:0003535 (3-Methylglutaconic aciduria)\n", + " \n", + " \n", + " Generalized weakness of limb muscles\n", + " definition of HP:0009028 (Generalized weakness of limb muscles)\n", + " \n", + " \n", + " Generalized weakness of the muscles of the arms and legs.\n", + " definition of HP:0009028 (Generalized weakness of limb muscles)\n", + " \n", + " \n", + " #Generalised weakness of limb muscles\n", + " definition of HP:0009028 (Generalized weakness of limb muscles)\n", + " \n", + " \n", + " Abnormality of lateral pterygoid muscle\n", + " definition of HP:3000068 (Abnormality of lateral pterygoid muscle)\n", + " \n", + " \n", + " An abnormality of a lateral pterygoid muscle.\n", + " definition of HP:3000068 (Abnormality of lateral pterygoid muscle)\n", + " \n", + " \n", + " Stippling of the epiphysis of the middle phalanx of the 4th toe\n", + " definition of HP:0100189 (Stippling of the epiphysis of the middle phalanx of the 4th toe)\n", + " \n", + " \n", + " The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 4th toe.\n", + " definition of HP:0100189 (Stippling of the epiphysis of the middle phalanx of the 4th toe)\n", + " \n", + " \n", + " #Speckled calcifications in the end part of the middle bone of the 4th toe\n", + " definition of HP:0100189 (Stippling of the epiphysis of the middle phalanx of the 4th toe)\n", + " \n", + " \n", + " Atretic occipital cephalocele\n", + " definition of HP:0004470 (Atretic occipital cephalocele)\n", + " \n", + " \n", + " A congenital defect in the occipital region of the skull, covered by skin of the scalp and containing meninges or remnants of glial or neural tissues.\n", + " definition of HP:0004470 (Atretic occipital cephalocele)\n", + " \n", + " \n", + " Cartilage destruction\n", + " definition of HP:0100773 (Cartilage destruction)\n", + " \n", + " \n", + " #Cartilage destruction\n", + " definition of HP:0100773 (Cartilage destruction)\n", + " \n", + " \n", + " Macular agenesis\n", + " definition of HP:0033743 (Macular agenesis)\n", + " \n", + " \n", + " A congenital defect characterized by lack of development of the macula.\n", + " definition of HP:0033743 (Macular agenesis)\n", + " \n", + " \n", + " Twin pregnancy\n", + " definition of HP:6000104 (Twin pregnancy)\n", + " \n", + " \n", + " Maternal history of a pregnancy with two fetuses in the uterus.\n", + " definition of HP:6000104 (Twin pregnancy)\n", + " \n", + " \n", + " Triphalangeal thumb\n", + " definition of HP:0001199 (Triphalangeal thumb)\n", + " \n", + " \n", + " A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb.\n", + " definition of HP:0001199 (Triphalangeal thumb)\n", + " \n", + " \n", + " #Accessory phalanx of the thumb #Digitalized thumb #Finger-like thumb #Triphalangeal thumbs #Triphalangy of thumb\n", + " definition of HP:0001199 (Triphalangeal thumb)\n", + " \n", + " \n", + " Hair follicle neoplasm\n", + " definition of HP:0012843 (Hair follicle neoplasm)\n", + " \n", + " \n", + " An uncontrolled autonomous cell-proliferation originating in a hair follicle, which is an epidermal adnexal structures responsible for hair growth.\n", + " definition of HP:0012843 (Hair follicle neoplasm)\n", + " \n", + " \n", + " Decreased HDL2a concentration\n", + " definition of HP:0032421 (Decreased HDL2a concentration)\n", + " \n", + " \n", + " A reduction below the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2a particle is defined as an HDL particle with a size of 8.80-9.69 nm.\n", + " definition of HP:0032421 (Decreased HDL2a concentration)\n", + " \n", + " \n", + " Peripheral cyanosis\n", + " definition of HP:0034033 (Peripheral cyanosis)\n", + " \n", + " \n", + " Bluish discoloration of the distal extremities (hands, fingertips, toes), and can sometimes involve circumoral and periorbital areas. Mucous membranes are generally not involved.\n", + " definition of HP:0034033 (Peripheral cyanosis)\n", + " \n", + " \n", + " Abnormality of levator anguli oris\n", + " definition of HP:3000070 (Abnormality of levator anguli oris)\n", + " \n", + " \n", + " An abnormality of a levator anguli oris.\n", + " definition of HP:3000070 (Abnormality of levator anguli oris)\n", + " \n", + " \n", + " Premature posterior fontanelle closure\n", + " definition of HP:0005494 (Premature posterior fontanelle closure)\n", + " \n", + " \n", + " Normal pressure hydrocephalus\n", + " definition of HP:0002343 (Normal pressure hydrocephalus)\n", + " \n", + " \n", + " A form of hydrocephalus characterized by enlarged cerebral ventricles and normal cerebrospinal fluid (CSF) pressure upon lumbar puncture.\n", + " definition of HP:0002343 (Normal pressure hydrocephalus)\n", + " \n", + " \n", + " #Normal-pressure hydrocephalus\n", + " definition of HP:0002343 (Normal pressure hydrocephalus)\n", + " \n", + " \n", + " Bladder pain\n", + " definition of HP:0032171 (Bladder pain)\n", + " \n", + " \n", + " An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the urinary bladder. Bladder pain may be more pronounced with a full bladder and relieved upon urination, but this is not always the case.\n", + " definition of HP:0032171 (Bladder pain)\n", + " \n", + " \n", + " Absent corneal reflex\n", + " definition of HP:0034252 (Absent corneal reflex)\n", + " \n", + " \n", + " Absence of the corneal blinking reflex, which normally induces involuntary blinking of the eyelids following contact of the cornea. The corneal blink reflex is caused by a loop between the trigeminal sensory nerves and the facial motor (VII) nerve innervation of the orbicularis oculi muscles.\n", + " definition of HP:0034252 (Absent corneal reflex)\n", + " \n", + " \n", + " Exaggerated rugosity of the labia majora\n", + " definition of HP:0030913 (Exaggerated rugosity of the labia majora)\n", + " \n", + " \n", + " Marked rugae formation of the skin of the labia majora.\n", + " definition of HP:0030913 (Exaggerated rugosity of the labia majora)\n", + " \n", + " \n", + " #Scrotum-like labia majora\n", + " definition of HP:0030913 (Exaggerated rugosity of the labia majora)\n", + " \n", + " \n", + " Decreased circulating thrombopoietin concentration\n", + " definition of HP:6000021 (Decreased circulating thrombopoietin concentration)\n", + " \n", + " \n", + " Concentration of thrombopoietin in the blood circulation below the lower limit of normal. Thrombopoietin is a glycoprotein hormone produced by the liver and kidney that stimulates the production and differentiation of megakaryocytes.\n", + " definition of HP:6000021 (Decreased circulating thrombopoietin concentration)\n", + " \n", + " \n", + " Reduced mitochondrial acetyl-CoA acetyltransferase activity in cultured fibroblasts\n", + " definition of HP:4000204 (Reduced mitochondrial acetyl-CoA acetyltransferase activity in cultured fibroblasts)\n", + " \n", + " \n", + " Concentration or activity of mitochondrial acetyl-CoA acetyltransferase (EC 2.3.1.9) as measured in cultured fibroblasts is below the limits of normal.\n", + " definition of HP:4000204 (Reduced mitochondrial acetyl-CoA acetyltransferase activity in cultured fibroblasts)\n", + " \n", + " \n", + " Anger\n", + " definition of HP:0031473 (Anger)\n", + " \n", + " \n", + " Persistent or frequent inner feelings of anger, irritability, or resentment that may be in response to an action or statement by others that is perceived to be a slight or challenge to the person regardless of the nature. Anger may also occur or arise spontaneously in the absence of any provocation and can be directed to another person or social entity.\n", + " definition of HP:0031473 (Anger)\n", + " \n", + " \n", + " #Hostile #Hostility\n", + " definition of HP:0031473 (Anger)\n", + " \n", + " \n", + " Abnormal bronchoalveolar fluid protein level\n", + " definition of HP:0032975 (Abnormal bronchoalveolar fluid protein level)\n", + " \n", + " \n", + " Any deviation from the normal concentration of protein in the bronchoalveolar fluid.\n", + " definition of HP:0032975 (Abnormal bronchoalveolar fluid protein level)\n", + " \n", + " \n", + " #Abnormal biochemical composition of broncho-alveolar fluid #Abnormal level of proteins in the broncho-alveolar fluid\n", + " definition of HP:0032975 (Abnormal bronchoalveolar fluid protein level)\n", + " \n", + " \n", + " Abnormal affect\n", + " definition of HP:0025766 (Abnormal affect)\n", + " \n", + " \n", + " An anomaly in intensity, frequency, or duration of the verbal or behavioral expression of emotions, feelings, or thoughts.\n", + " definition of HP:0025766 (Abnormal affect)\n", + " \n", + " \n", + " Unaided visual acuity 0.8 LogMAR\n", + " definition of HP:0030543 (Unaided visual acuity 0.8 LogMAR)\n", + " \n", + " \n", + " Glomus tympanicum paraganglioma\n", + " definition of HP:0006715 (Glomus tympanicum paraganglioma)\n", + " \n", + " \n", + " #Tympanic nerve tumor #Tympanic nerve tumors #Tympanic nerve tumour #Tympanic nerve tumours\n", + " definition of HP:0006715 (Glomus tympanicum paraganglioma)\n", + " \n", + " \n", + " Demonstration of Leishmania in tissue\n", + " definition of HP:6000255 (Demonstration of Leishmania in tissue)\n", + " \n", + " \n", + " Presence of Leishmania, a parasitic protozoan, in a tissue specimen. Leishmania is responsible for leishmaniasis.\n", + " definition of HP:6000255 (Demonstration of Leishmania in tissue)\n", + " \n", + " \n", + " Gastrocnemius myalgia\n", + " definition of HP:0031921 (Gastrocnemius myalgia)\n", + " \n", + " \n", + " Pain of the gastrocnemius muscle.\n", + " definition of HP:0031921 (Gastrocnemius myalgia)\n", + " \n", + " \n", + " #Calf muscle pain #Calf myalgia\n", + " definition of HP:0031921 (Gastrocnemius myalgia)\n", + " \n", + " \n", + " Subcutaneous ossification\n", + " definition of HP:0034282 (Subcutaneous ossification)\n", + " \n", + " \n", + " Formation of abnormal, extraskeletal bony tissue in the soft tissue beneath the skin. Subcutaneous ossifications may be observed by radiography or by palpation.\n", + " definition of HP:0034282 (Subcutaneous ossification)\n", + " \n", + " \n", + " Reduced muscle fiber beta sarcoglycan\n", + " definition of HP:0030107 (Reduced muscle fiber beta sarcoglycan)\n", + " \n", + " \n", + " Immunohistochemistry reveals reduced beta sarcoglycan protein in the muscle biopsy.\n", + " definition of HP:0030107 (Reduced muscle fiber beta sarcoglycan)\n", + " \n", + " \n", + " #Reduced muscle fibre beta sarcoglycan\n", + " definition of HP:0030107 (Reduced muscle fiber beta sarcoglycan)\n", + " \n", + " \n", + " Positive saliva rabies nucleic acid test\n", + " definition of HP:6001111 (Positive saliva rabies nucleic acid test)\n", + " \n", + " \n", + " Detection of rabies nucleic acid in saliva by a method such as polymerase chain reaction.\n", + " definition of HP:6001111 (Positive saliva rabies nucleic acid test)\n", + " \n", + " \n", + " Prominent supraorbital ridges\n", + " definition of HP:0000336 (Prominent supraorbital ridges)\n", + " \n", + " \n", + " Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones.\n", + " definition of HP:0000336 (Prominent supraorbital ridges)\n", + " \n", + " \n", + " #Prominent brow #Prominent supraorbital margins #Prominent supraorbital ridge #Protruding supraorbital ridge #Supraorbital hyperostosis\n", + " definition of HP:0000336 (Prominent supraorbital ridges)\n", + " \n", + " \n", + " Glomerular subepithelial deposits\n", + " definition of HP:0033603 (Glomerular subepithelial deposits)\n", + " \n", + " \n", + " Deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature may be associated with a prominent GBM reflecting an diffuse and relatively uniform increase in thickness (subjective estimate).\n", + " definition of HP:0033603 (Glomerular subepithelial deposits)\n", + " \n", + " \n", + " Large elbow\n", + " definition of HP:0030865 (Large elbow)\n", + " \n", + " \n", + " Abnormal increased size of the elbow joint.\n", + " definition of HP:0030865 (Large elbow)\n", + " \n", + " \n", + " #Prominent elbow\n", + " definition of HP:0030865 (Large elbow)\n", + " \n", + " \n", + " Striatal T2 hyperintensity\n", + " definition of HP:0031206 (Striatal T2 hyperintensity)\n", + " \n", + " \n", + " Abnormally bright T2 signal from the striatum on brain magnetic resonance imaging.\n", + " definition of HP:0031206 (Striatal T2 hyperintensity)\n", + " \n", + " \n", + " Abnormal resting energy expenditure from metabolic cart test\n", + " definition of HP:0500019 (Abnormal resting energy expenditure from metabolic cart test)\n", + " \n", + " \n", + " Resting energy expenditure (REE) can be measured with indirect calorimetry using a metabolic cart, which is used to measure the oxygen consumption (VO2) and carbon dioxide production (VCO2).\n", + " definition of HP:0500019 (Abnormal resting energy expenditure from metabolic cart test)\n", + " \n", + " \n", + " #Abnormal metabolic cart test\n", + " definition of HP:0500019 (Abnormal resting energy expenditure from metabolic cart test)\n", + " \n", + " \n", + " Gallbladder adhesions\n", + " definition of HP:6000452 (Gallbladder adhesions)\n", + " \n", + " \n", + " Strands of scar tissue bands of scar tissue that form an abnormal connection between the gallbladder and another abdominal structure. Adhesions can form followiing gallbladder inflammation (cholecystitis).\n", + " definition of HP:6000452 (Gallbladder adhesions)\n", + " \n", + " \n", + " Abnormal palm morphology\n", + " definition of HP:0100871 (Abnormal palm morphology)\n", + " \n", + " \n", + " An abnormality of the palm, that is, of the front of the hand.\n", + " definition of HP:0100871 (Abnormal palm morphology)\n", + " \n", + " \n", + " #Abnormality of the palm\n", + " definition of HP:0100871 (Abnormal palm morphology)\n", + " \n", + " \n", + " Furuncle\n", + " definition of HP:0020083 (Furuncle)\n", + " \n", + " \n", + " An infection of a hair follicle that extends subcutaneously, forming an abscess.\n", + " definition of HP:0020083 (Furuncle)\n", + " \n", + " \n", + " #Boil\n", + " definition of HP:0020083 (Furuncle)\n", + " \n", + " \n", + " Placenta accreta\n", + " definition of HP:0025654 (Placenta accreta)\n", + " \n", + " \n", + " Abnormally firm adherence of the placenta to the uterine wall.\n", + " definition of HP:0025654 (Placenta accreta)\n", + " \n", + " \n", + " Incoordination\n", + " definition of HP:0002311 (Incoordination)\n", + " \n", + " \n", + " #Difficulties in coordination #Incoordination #Incoordination of limb movements #Limb incoordination\n", + " definition of HP:0002311 (Incoordination)\n", + " \n", + " \n", + " Urocanic aciduria\n", + " definition of HP:0012237 (Urocanic aciduria)\n", + " \n", + " \n", + " An increased concentration of urocanic acid in the urine.\n", + " definition of HP:0012237 (Urocanic aciduria)\n", + " \n", + " \n", + " #High urine urocanic acid levels\n", + " definition of HP:0012237 (Urocanic aciduria)\n", + " \n", + " \n", + " Elevated urine N-acetylaspartic acid level\n", + " definition of HP:0034649 (Elevated urine N-acetylaspartic acid level)\n", + " \n", + " \n", + " The amount of N-acetylaspartate in the urine, when corrected for urine concentration, is above upper limit of normal. This feature can be measured using gas chromatography-mass spectrometry.\n", + " definition of HP:0034649 (Elevated urine N-acetylaspartic acid level)\n", + " \n", + " \n", + " #Elevated urinary N-acetylaspartic acid level #N-acetylaspartate high in urine\n", + " definition of HP:0034649 (Elevated urine N-acetylaspartic acid level)\n", + " \n", + " \n", + " Abnormal vaginal physiology\n", + " definition of HP:0034268 (Abnormal vaginal physiology)\n", + " \n", + " \n", + " Any anomaly of vagina function.\n", + " definition of HP:0034268 (Abnormal vaginal physiology)\n", + " \n", + " \n", + " Distal radioulnar joint dislocation\n", + " definition of HP:6000889 (Distal radioulnar joint dislocation)\n", + " \n", + " \n", + " Distal radioulnar joint dislocation is more commonly displaced dorsally (i.e. the distal ulna is dorsally dislocated with respect to the distal radius), but can be volarly displaced.\n", + " definition of HP:6000889 (Distal radioulnar joint dislocation)\n", + " \n", + " \n", + " Protruding coccyx\n", + " definition of HP:0040017 (Protruding coccyx)\n", + " \n", + " \n", + " #Protruding tailbone\n", + " definition of HP:0040017 (Protruding coccyx)\n", + " \n", + " \n", + " Partial anosmia\n", + " definition of HP:0010633 (Partial anosmia)\n", + " \n", + " \n", + " Inability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants).\n", + " definition of HP:0010633 (Partial anosmia)\n", + " \n", + " \n", + " Symphalangism affecting the proximal phalanx of the 4th toe\n", + " definition of HP:0100474 (Symphalangism affecting the proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " #Fused innermost bones of 4th toe\n", + " definition of HP:0100474 (Symphalangism affecting the proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " Proximal limb muscle stiffness\n", + " definition of HP:0007066 (Proximal limb muscle stiffness)\n", + " \n", + " \n", + " Stiffness of the limbs (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) occurring in the proximal limb muscle.\n", + " definition of HP:0007066 (Proximal limb muscle stiffness)\n", + " \n", + " \n", + " Anteriorly placed odontoid process\n", + " definition of HP:0004608 (Anteriorly placed odontoid process)\n", + " \n", + " \n", + " Anterior mislocalization of the dens of the axis.\n", + " definition of HP:0004608 (Anteriorly placed odontoid process)\n", + " \n", + " \n", + " Primary amenorrhea\n", + " definition of HP:0000786 (Primary amenorrhea)\n", + " \n", + " \n", + " Upper eyelid coloboma\n", + " definition of HP:0000636 (Upper eyelid coloboma)\n", + " \n", + " \n", + " A short discontinuity of the margin of the upper eyelid.\n", + " definition of HP:0000636 (Upper eyelid coloboma)\n", + " \n", + " \n", + " #Cleft upper eyelid #Coloboma of the upper eyelid #Full thickness defect of the upper eyelid #Notched upper eyelid #Upper eyelid colobomas\n", + " definition of HP:0000636 (Upper eyelid coloboma)\n", + " \n", + " \n", + " Unaided visual acuity 0.3 LogMAR\n", + " definition of HP:0030538 (Unaided visual acuity 0.3 LogMAR)\n", + " \n", + " \n", + " Abnormal metabolism\n", + " definition of HP:0032245 (Abnormal metabolism)\n", + " \n", + " \n", + " An abnormality in the function of the chemical reactions related to processes including conversion of food to enter, synthesis of proteins, lipids, nucleic acids, and carbohydrates, or the elimination of waste products.\n", + " definition of HP:0032245 (Abnormal metabolism)\n", + " \n", + " \n", + " Germ cell neoplasia\n", + " definition of HP:0100728 (Germ cell neoplasia)\n", + " \n", + " \n", + " Abnormal urine osmolality\n", + " definition of HP:0033358 (Abnormal urine osmolality)\n", + " \n", + " \n", + " A deviation from the normal range of concentration of particles in urine.\n", + " definition of HP:0033358 (Abnormal urine osmolality)\n", + " \n", + " \n", + " Type II atherosclerotic lesion\n", + " definition of HP:0031680 (Type II atherosclerotic lesion)\n", + " \n", + " \n", + " Type II atherosclerotic lesions include the fatty streak lesion, the first grossly visible lesion, and are characterized by layers of macrophage foam cells and lipid droplets within intimal smooth muscle cells and minimal coarse-grained particles and heterogeneous droplets of extracellular lipid.\n", + " definition of HP:0031680 (Type II atherosclerotic lesion)\n", + " \n", + " \n", + " Reversible renal failure\n", + " definition of HP:0004713 (Reversible renal failure)\n", + " \n", + " \n", + " Acute renal failure with resolution of manifestations.\n", + " definition of HP:0004713 (Reversible renal failure)\n", + " \n", + " \n", + " #Reversible kidney failure #Reversible renal failure\n", + " definition of HP:0004713 (Reversible renal failure)\n", + " \n", + " \n", + " Lung abscess\n", + " definition of HP:0025044 (Lung abscess)\n", + " \n", + " \n", + " A circumscribed area of pus or necrotic debris in lung parenchyma, which leads to a cavity, and after formation of bronchopulmonary fistula, can manifest as an air-fluid level inside the cavity.\n", + " definition of HP:0025044 (Lung abscess)\n", + " \n", + " \n", + " Stapes ankylosis\n", + " definition of HP:0000381 (Stapes ankylosis)\n", + " \n", + " \n", + " Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles).\n", + " definition of HP:0000381 (Stapes ankylosis)\n", + " \n", + " \n", + " #Stapes fixation\n", + " definition of HP:0000381 (Stapes ankylosis)\n", + " \n", + " \n", + " Hemisacrum\n", + " definition of HP:0009790 (Hemisacrum)\n", + " \n", + " \n", + " A hemisacral defect involving the sacral vertebrae S2 to S5. In hemisacrum, the first sacral vertebra is intact and there is agenesis involving only S2-S5.\n", + " definition of HP:0009790 (Hemisacrum)\n", + " \n", + " \n", + " Medial degeneration\n", + " definition of HP:0032079 (Medial degeneration)\n", + " \n", + " \n", + " Medial degeneration of the aorta is to be used as an overarching term for any aortic surgical specimens that demonstrate one or more of the specific histopathologies mucoid extracellular matrix accumulation, elastic fiber fragmentation and/or loss, elastic fiber thinning, elastic fiber disorganization, smooth muscle cell nuclei loss, laminar medial collapse, smooth muscle cell disorganization, medial fibrosis. Grading of medial degeneration is based on the average overall severity of specific histopathologies as described, considering the worst area(s) sampled from multiple slides and aorta sections.\n", + " definition of HP:0032079 (Medial degeneration)\n", + " \n", + " \n", + " Radial bowing\n", + " definition of HP:0002986 (Radial bowing)\n", + " \n", + " \n", + " A bending or abnormal curvature of the radius.\n", + " definition of HP:0002986 (Radial bowing)\n", + " \n", + " \n", + " #Bowed radii #Bowed radius #Bowing of outer large bone of the forearm #Bowing of radius bone of the forearm\n", + " definition of HP:0002986 (Radial bowing)\n", + " \n", + " \n", + " Iris pigment dispersion\n", + " definition of HP:0012634 (Iris pigment dispersion)\n", + " \n", + " \n", + " Shedding of the pigment granules that normally adhere to the back of the iris into the aqueous humor.\n", + " definition of HP:0012634 (Iris pigment dispersion)\n", + " \n", + " \n", + " Neonatal electro-clinical motor seizure with automatism\n", + " definition of HP:0032829 (Neonatal electro-clinical motor seizure with automatism)\n", + " \n", + " \n", + " Neonatal electro-clinical motor seizure with automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awareness, and in association with other features.\n", + " definition of HP:0032829 (Neonatal electro-clinical motor seizure with automatism)\n", + " \n", + " \n", + " #Neonatal electroclinical motor seizure with automatism\n", + " definition of HP:0032829 (Neonatal electro-clinical motor seizure with automatism)\n", + " \n", + " \n", + " Abnormal urinary copper concentration\n", + " definition of HP:0045036 (Abnormal urinary copper concentration)\n", + " \n", + " \n", + " #Abnormal urinary copper concentration\n", + " definition of HP:0045036 (Abnormal urinary copper concentration)\n", + " \n", + " \n", + " Hypoplastic pubic bone\n", + " definition of HP:0003173 (Hypoplastic pubic bone)\n", + " \n", + " \n", + " Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone.\n", + " definition of HP:0003173 (Hypoplastic pubic bone)\n", + " \n", + " \n", + " #Hypoplastic pubic bones #Hypoplastic pubis\n", + " definition of HP:0003173 (Hypoplastic pubic bone)\n", + " \n", + " \n", + " Patchy sclerosis of 3rd finger phalanx\n", + " definition of HP:0009444 (Patchy sclerosis of 3rd finger phalanx)\n", + " \n", + " \n", + " Uneven (irregular) increase in bone density of one or more of the phalanges of the third finger.\n", + " definition of HP:0009444 (Patchy sclerosis of 3rd finger phalanx)\n", + " \n", + " \n", + " #Patchy sclerosis of middle finger phalanges #Patchy sclerosis of the phalanges of the 3rd finger #Uneven increase in bone density in middle finger bone\n", + " definition of HP:0009444 (Patchy sclerosis of 3rd finger phalanx)\n", + " \n", + " \n", + " Nail psoriasis\n", + " definition of HP:0033327 (Nail psoriasis)\n", + " \n", + " \n", + " Psoriatic nail abnormality characterized by the presence of neutrophils in the nail bed epithelium, hyperkeratosis with parakeratosis, presence of exudates on the corneal epithelium, focal hypogranulosis and psoriasiform hyperplasia of the nail bed.\n", + " definition of HP:0033327 (Nail psoriasis)\n", + " \n", + " \n", + " Serpentine fibula\n", + " definition of HP:0030045 (Serpentine fibula)\n", + " \n", + " \n", + " Elongated curved (S-shaped) fibulae.\n", + " definition of HP:0030045 (Serpentine fibula)\n", + " \n", + " \n", + " #S-shaped calf bone\n", + " definition of HP:0030045 (Serpentine fibula)\n", + " \n", + " \n", + " Elevated circulating cholestanol concentration\n", + " definition of HP:6000527 (Elevated circulating cholestanol concentration)\n", + " \n", + " \n", + " The concentration of cholestanol in the blood circulation is above the upper limit of normal. Cholestanol is the 5-alpha-dihydro derivative of cholesterol.\n", + " definition of HP:6000527 (Elevated circulating cholestanol concentration)\n", + " \n", + " \n", + " Pulmonary mycetoma\n", + " definition of HP:0033651 (Pulmonary mycetoma)\n", + " \n", + " \n", + " A mycetoma is a discrete mass of intertwined hyphae, usually of an Aspergillus species, matted together by mucus, fibrin, and cellular debris colonizing a cavity, usually from prior fibrocavitary disease (eg, tuberculosis or sarcoidosis). A mycetoma may move to a dependent location when the patient changes position and may show an air crescent sign. CT scans may show a spongelike pattern and foci of calcification in the mycetoma.\n", + " definition of HP:0033651 (Pulmonary mycetoma)\n", + " \n", + " \n", + " #Lung fungus ball\n", + " definition of HP:0033651 (Pulmonary mycetoma)\n", + " \n", + " \n", + " Hypoplasia of the musculature of the pelvis\n", + " definition of HP:0500026 (Hypoplasia of the musculature of the pelvis)\n", + " \n", + " \n", + " Underdevelopment of the musculature of the pelvis.\n", + " definition of HP:0500026 (Hypoplasia of the musculature of the pelvis)\n", + " \n", + " \n", + " Clinodactyly of the 4th finger\n", + " definition of HP:0040025 (Clinodactyly of the 4th finger)\n", + " \n", + " \n", + " Partial duplication of the middle phalanx of the 5th finger\n", + " definition of HP:0009995 (Partial duplication of the middle phalanx of the 5th finger)\n", + " \n", + " \n", + " Partial duplication of the fifth middle phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.\n", + " definition of HP:0009995 (Partial duplication of the middle phalanx of the 5th finger)\n", + " \n", + " \n", + " #Partial duplication of the middle little finger bone #Partial duplication of the middle pinkie finger bone #Partial duplication of the middle pinky finger bone\n", + " definition of HP:0009995 (Partial duplication of the middle phalanx of the 5th finger)\n", + " \n", + " \n", + " Elevated urinary succinylaminoimidazole carboxamide riboside level\n", + " definition of HP:6000390 (Elevated urinary succinylaminoimidazole carboxamide riboside level)\n", + " \n", + " \n", + " Presence of succinylaminoimidazole carboxamide riboside (SAICAr). SAICAr is a toxic intermediate metabolite of purine synthesis.\n", + " definition of HP:6000390 (Elevated urinary succinylaminoimidazole carboxamide riboside level)\n", + " \n", + " \n", + " High anterior hairline\n", + " definition of HP:0009890 (High anterior hairline)\n", + " \n", + " \n", + " Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella.\n", + " definition of HP:0009890 (High anterior hairline)\n", + " \n", + " \n", + " #High frontal hairline\n", + " definition of HP:0009890 (High anterior hairline)\n", + " \n", + " \n", + " Metacarpophalangeal synostosis\n", + " definition of HP:0005880 (Metacarpophalangeal synostosis)\n", + " \n", + " \n", + " Fusion of a metacarpal bone with the proximal phalanx of the finger distal to it across the corresponding metacarpophalangeal joint.\n", + " definition of HP:0005880 (Metacarpophalangeal synostosis)\n", + " \n", + " \n", + " #Fused long bone of hand with innermost finger bone\n", + " definition of HP:0005880 (Metacarpophalangeal synostosis)\n", + " \n", + " \n", + " Joint contracture\n", + " definition of HP:0034392 (Joint contracture)\n", + " \n", + " \n", + " A limitation in the passive range of motion of a joint resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. A contracture prevents movement of the associated body part.\n", + " definition of HP:0034392 (Joint contracture)\n", + " \n", + " \n", + " #Contracture\n", + " definition of HP:0034392 (Joint contracture)\n", + " \n", + " \n", + " Repeated focal motor seizures\n", + " definition of HP:0032665 (Repeated focal motor seizures)\n", + " \n", + " \n", + " A type of focal motor status epilepticus characterized by repeated motor, typically clonic events repeatedly affecting the same segments of the body with spread of clonic movements through contiguous body parts unilaterally, and repeating over a sufficiently prolonged period to reach a diagnosis of status epilepticus.\n", + " definition of HP:0032665 (Repeated focal motor seizures)\n", + " \n", + " \n", + " #Jacksonian status epilepticus\n", + " definition of HP:0032665 (Repeated focal motor seizures)\n", + " \n", + " \n", + " Decreased fucosylation of O-linked protein glycosylation\n", + " definition of HP:0012360 (Decreased fucosylation of O-linked protein glycosylation)\n", + " \n", + " \n", + " A reduction of the addition of fucose sugar units to O-linked glycans.\n", + " definition of HP:0012360 (Decreased fucosylation of O-linked protein glycosylation)\n", + " \n", + " \n", + " Limited shoulder movement\n", + " definition of HP:0006467 (Limited shoulder movement)\n", + " \n", + " \n", + " A limitation of the range of movement of the shoulder joint.\n", + " definition of HP:0006467 (Limited shoulder movement)\n", + " \n", + " \n", + " #Limited shoulder movement\n", + " definition of HP:0006467 (Limited shoulder movement)\n", + " \n", + " \n", + " Rouleaux formation\n", + " definition of HP:0031898 (Rouleaux formation)\n", + " \n", + " \n", + " Increased amount of stacking of erythrocytes into long chains. Rouleaux (singular: rouleau) is derived from a French word that can refer to a stack of coins put into a cylindircal paper roll. Rouleaux formation is observed with increased serum proteins, particularly fibrinogen and globulins, and represents the cause of increased erythrocte sedimentation rate because rouleaux sediment more readily than isolated red blood cells.\n", + " definition of HP:0031898 (Rouleaux formation)\n", + " \n", + " \n", + " #Increased rouleaux formation\n", + " definition of HP:0031898 (Rouleaux formation)\n", + " \n", + " \n", + " Impaired convulxin-induced platelet aggregation\n", + " definition of HP:0031127 (Impaired convulxin-induced platelet aggregation)\n", + " \n", + " \n", + " Abnormal response to convulxin as manifested by reduced or lacking aggregation of platelets upon addition of convulxin.\n", + " definition of HP:0031127 (Impaired convulxin-induced platelet aggregation)\n", + " \n", + " \n", + " Temporal artery giant cells\n", + " definition of HP:6000618 (Temporal artery giant cells)\n", + " \n", + " \n", + " The presence of giant cells in the temporal artery. This is a feature of giant cell arteritis. Giant cells are multinucleated cells formed by fusion of multiple macrophages and are typically located in the intima of the arterial wall. This feature is typically demonstrated by temporal artery biopsy but other arteries may also be affected.\n", + " definition of HP:6000618 (Temporal artery giant cells)\n", + " \n", + " \n", + " Abnormal foot morphology\n", + " definition of HP:0001760 (Abnormal foot morphology)\n", + " \n", + " \n", + " An abnormality of the skeleton of foot.\n", + " definition of HP:0001760 (Abnormal foot morphology)\n", + " \n", + " \n", + " #Abnormal feet structure #Abnormality of the feet #Abnormality of the foot #Foot deformities #Foot deformity\n", + " definition of HP:0001760 (Abnormal foot morphology)\n", + " \n", + " \n", + " Euthyroid goiter\n", + " definition of HP:0009798 (Euthyroid goiter)\n", + " \n", + " \n", + " A goiter that is not associated with functional thyroid abnormalities.\n", + " definition of HP:0009798 (Euthyroid goiter)\n", + " \n", + " \n", + " #Euthyroid goitre\n", + " definition of HP:0009798 (Euthyroid goiter)\n", + " \n", + " \n", + " Extrahepatic bile duct fibrosis\n", + " definition of HP:0035014 (Extrahepatic bile duct fibrosis)\n", + " \n", + " \n", + " Accumulation of fibrous connective tissue (collagen) in the extrahepatic bile ducts.\n", + " definition of HP:0035014 (Extrahepatic bile duct fibrosis)\n", + " \n", + " \n", + " Muscle extensor surface location\n", + " definition of HP:6000858 (Muscle extensor surface location)\n", + " \n", + " \n", + " Applies to an abnormality that is situated in extensor surface of an extremity.\n", + " definition of HP:6000858 (Muscle extensor surface location)\n", + " \n", + " \n", + " Hypothalamic hypothyroidism\n", + " definition of HP:0008237 (Hypothalamic hypothyroidism)\n", + " \n", + " \n", + " A type of hypothyroidism that results from a defect in thyrotropin-releasing hormone activity.\n", + " definition of HP:0008237 (Hypothalamic hypothyroidism)\n", + " \n", + " \n", + " #Tertiary hypothyroidism\n", + " definition of HP:0008237 (Hypothalamic hypothyroidism)\n", + " \n", + " \n", + " Cortical thickening of hand bones\n", + " definition of HP:0004271 (Cortical thickening of hand bones)\n", + " \n", + " \n", + " Amyloidosis\n", + " definition of HP:0011034 (Amyloidosis)\n", + " \n", + " \n", + " The presence of amyloid deposition in one or more tissues. Amyloidosis may be defined as the extracellular deposition of amyloid in one or more sites of the body.\n", + " definition of HP:0011034 (Amyloidosis)\n", + " \n", + " \n", + " #Amyloid disease\n", + " definition of HP:0011034 (Amyloidosis)\n", + " \n", + " \n", + " Ventricular preexcitation with multiple accessory pathways\n", + " definition of HP:0006684 (Ventricular preexcitation with multiple accessory pathways)\n", + " \n", + " \n", + " A form of ventricular preexcitation due to the presence of multiple accessory pathways for cardiac conduction.\n", + " definition of HP:0006684 (Ventricular preexcitation with multiple accessory pathways)\n", + " \n", + " \n", + " Proximal hyperreflexia\n", + " definition of HP:0007054 (Proximal hyperreflexia)\n", + " \n", + " \n", + " Hyperactive stretch reflexes of muscles that move proximal joints (elbow, knee).\n", + " definition of HP:0007054 (Proximal hyperreflexia)\n", + " \n", + " \n", + " #Hyperreflexia proximally\n", + " definition of HP:0007054 (Proximal hyperreflexia)\n", + " \n", + " \n", + " Abnormal level of platelet-activating factor\n", + " definition of HP:0040177 (Abnormal level of platelet-activating factor)\n", + " \n", + " \n", + " #Abnormal level of PAF\n", + " definition of HP:0040177 (Abnormal level of platelet-activating factor)\n", + " \n", + " \n", + " Stippling of the epiphyses of the 3rd toe\n", + " definition of HP:0100064 (Stippling of the epiphyses of the 3rd toe)\n", + " \n", + " \n", + " The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd toe.\n", + " definition of HP:0100064 (Stippling of the epiphyses of the 3rd toe)\n", + " \n", + " \n", + " #Speckled calcifications in the end part of the 3rd toe bone\n", + " definition of HP:0100064 (Stippling of the epiphyses of the 3rd toe)\n", + " \n", + " \n", + " Vitelliform-like retinal lesions\n", + " definition of HP:0030643 (Vitelliform-like retinal lesions)\n", + " \n", + " \n", + " Triangular epiphyses of the 3rd toe\n", + " definition of HP:0100065 (Triangular epiphyses of the 3rd toe)\n", + " \n", + " \n", + " #Triangular end part of the 3rd toe bone\n", + " definition of HP:0100065 (Triangular epiphyses of the 3rd toe)\n", + " \n", + " \n", + " Temporal lobe calcification\n", + " definition of HP:0034293 (Temporal lobe calcification)\n", + " \n", + " \n", + " The presence of calcium deposition within the temporal lobe of the brain.\n", + " definition of HP:0034293 (Temporal lobe calcification)\n", + " \n", + " \n", + " Hair shaft lesion\n", + " definition of HP:6001065 (Hair shaft lesion)\n", + " \n", + " \n", + " Applies to an abnormality that is located on hair shafts.\n", + " definition of HP:6001065 (Hair shaft lesion)\n", + " \n", + " \n", + " Difficulty running\n", + " definition of HP:0009046 (Difficulty running)\n", + " \n", + " \n", + " Reduced ability to run.\n", + " definition of HP:0009046 (Difficulty running)\n", + " \n", + " \n", + " #Difficulty running\n", + " definition of HP:0009046 (Difficulty running)\n", + " \n", + " \n", + " Cytochrome C oxidase-negative muscle fibers\n", + " definition of HP:0003688 (Cytochrome C oxidase-negative muscle fibers)\n", + " \n", + " \n", + " An abnormally reduced activity of the enzyme cytochrome C oxidase in muscle tissue.\n", + " definition of HP:0003688 (Cytochrome C oxidase-negative muscle fibers)\n", + " \n", + " \n", + " #Cytochrome c oxidase deficiency in skeletal muscle #Cytochrome C oxidase-negative muscle fibres #Decreased activity of cytochrome C oxidase in muscle tissue #Decreased skeletal muscle cytochrome c oxidase activity\n", + " definition of HP:0003688 (Cytochrome C oxidase-negative muscle fibers)\n", + " \n", + " \n", + " Anti-beta-2-Glycoprotein I IgM antibody positivity\n", + " definition of HP:0034157 (Anti-beta-2-Glycoprotein I IgM antibody positivity)\n", + " \n", + " \n", + " Presence of IgM antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome.\n", + " definition of HP:0034157 (Anti-beta-2-Glycoprotein I IgM antibody positivity)\n", + " \n", + " \n", + " #Anti-beta2GPI IgM antibody positivity\n", + " definition of HP:0034157 (Anti-beta-2-Glycoprotein I IgM antibody positivity)\n", + " \n", + " \n", + " Microcephaly\n", + " definition of HP:0000252 (Microcephaly)\n", + " \n", + " \n", + " Head circumference below 2 standard deviations below the mean for age and gender.\n", + " definition of HP:0000252 (Microcephaly)\n", + " \n", + " \n", + " #Abnormally small cranium #Abnormally small skull #Decreased circumference of cranium #Decreased size of cranium #Decreased size of skull #Reduced head circumference #small calvarium #small cranium #Small head circumference\n", + " definition of HP:0000252 (Microcephaly)\n", + " \n", + " \n", + " Type IV atherosclerotic lesion\n", + " definition of HP:0002635 (Type IV atherosclerotic lesion)\n", + " \n", + " \n", + " In type IV atherosclerotic lesions a dense accumulation of extracellular lipid occupies an extensive but well-defined region of the intima. This type of extracellular lipid accumulation is known as the lipid core. A fibrous tissue increase is not a feature, and complications such as defects of the lesion surface and thrombosis are not present. The type IV lesion is also known as atheroma. Type IV is the first lesion considered advanced in this classification because of the severe intimal disorganization caused by the lipid core. The characteristic core appears to develop from an increase and the consequent confluence of the small isolated pools of extracellular lipid that characterize type III lesions. The increase in lipid is believed to result from continued insudation from the plasma. Type IV lesions, when they first appear in younger people, are found in the same locations as adaptive intimal thickenings of the eccentric type. Thus, atheroma is, at least initially, an eccentric lesion.\n", + " definition of HP:0002635 (Type IV atherosclerotic lesion)\n", + " \n", + " \n", + " Absent scaphoid\n", + " definition of HP:0011835 (Absent scaphoid)\n", + " \n", + " \n", + " Congenital absence of the scaphoid..\n", + " definition of HP:0011835 (Absent scaphoid)\n", + " \n", + " \n", + " #Missing scaphoid bone\n", + " definition of HP:0011835 (Absent scaphoid)\n", + " \n", + " \n", + " Elevated circulating globotriaosylceramide concentration\n", + " definition of HP:0033595 (Elevated circulating globotriaosylceramide concentration)\n", + " \n", + " \n", + " Increased concentration of globotriaosylceramide (Gb3) in the blood circulation. Globotriaosylceramide, also named ceramidetrihexoside, is the primary lipid storage in Fabry disease.\n", + " definition of HP:0033595 (Elevated circulating globotriaosylceramide concentration)\n", + " \n", + " \n", + " #Elevated circulating ceramidetrihexoside concentration\n", + " definition of HP:0033595 (Elevated circulating globotriaosylceramide concentration)\n", + " \n", + " \n", + " Ascending tubular aorta aneurysm\n", + " definition of HP:0004970 (Ascending tubular aorta aneurysm)\n", + " \n", + " \n", + " An abnormal localized widening (dilatation) of the tubular part of the ascending aorta.\n", + " definition of HP:0004970 (Ascending tubular aorta aneurysm)\n", + " \n", + " \n", + " #Aneurysm of the ascending tubular aorta #Ascending aortic aneurysm #Ascending aortic dilation #Bulging of wall of large artery located above heart #Dilatation of ascending aorta\n", + " definition of HP:0004970 (Ascending tubular aorta aneurysm)\n", + " \n", + " \n", + " Elevated urine succinic acid level\n", + " definition of HP:0430137 (Elevated urine succinic acid level)\n", + " \n", + " \n", + " The concentration of succinic acid in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:0430137 (Elevated urine succinic acid level)\n", + " \n", + " \n", + " #Succinic acid high in urine\n", + " definition of HP:0430137 (Elevated urine succinic acid level)\n", + " \n", + " \n", + " Lack of expressed empathy\n", + " definition of HP:5200037 (Lack of expressed empathy)\n", + " \n", + " \n", + " This term refers to the observation that an affected person tends not to provide situationally appropriate responses to other people in times when these people are in emotional need. For instance, failure to provide comfort to a person who is sad or crying.\n", + " definition of HP:5200037 (Lack of expressed empathy)\n", + " \n", + " \n", + " #Lack of empathy #Lack of expressed sympathy #Reduced empathic arousal #Reduced sympathetic expression\n", + " definition of HP:5200037 (Lack of expressed empathy)\n", + " \n", + " \n", + " Hypoplastic left atrium\n", + " definition of HP:0005156 (Hypoplastic left atrium)\n", + " \n", + " \n", + " Underdeveloped, small left heart atrium\n", + " definition of HP:0005156 (Hypoplastic left atrium)\n", + " \n", + " \n", + " #Left atrium hypoplasia #Underdeveloped left heart atrium\n", + " definition of HP:0005156 (Hypoplastic left atrium)\n", + " \n", + " \n", + " Tympanic membrane bulging\n", + " definition of HP:6000172 (Tympanic membrane bulging)\n", + " \n", + " \n", + " The tympanic membrane protrudes (swells outwards). This feature may be observed with otoscopy.\n", + " definition of HP:6000172 (Tympanic membrane bulging)\n", + " \n", + " \n", + " Fragmentation of the epiphyses of the distal phalanges of the hand\n", + " definition of HP:0010250 (Fragmentation of the epiphyses of the distal phalanges of the hand)\n", + " \n", + " \n", + " #Fragmentation of the end part of the outermost hand bones\n", + " definition of HP:0010250 (Fragmentation of the epiphyses of the distal phalanges of the hand)\n", + " \n", + " \n", + " Rootless teeth\n", + " definition of HP:0011072 (Rootless teeth)\n", + " \n", + " \n", + " #Absence of tooth root #Agenesis of tooth root #Aplasia of tooth root #Missing tooth root #Rootless teeth #Teeth without roots\n", + " definition of HP:0011072 (Rootless teeth)\n", + " \n", + " \n", + " Decreased circulating apolipoprotein B concentration\n", + " definition of HP:0034075 (Decreased circulating apolipoprotein B concentration)\n", + " \n", + " \n", + " Reduced circulating level of apolipoprotein B, which is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100.\n", + " definition of HP:0034075 (Decreased circulating apolipoprotein B concentration)\n", + " \n", + " \n", + " Trichiasis\n", + " definition of HP:0001128 (Trichiasis)\n", + " \n", + " \n", + " Inversion and rubbing of the eyelashes against the globe of the eye.\n", + " definition of HP:0001128 (Trichiasis)\n", + " \n", + " \n", + " #Ingrown eyelashes #Introversion of eyelashes #Trichiasis of eyelid eyelashes\n", + " definition of HP:0001128 (Trichiasis)\n", + " \n", + " \n", + " Reduced alkyl-dihydroxyacetonephosphate synthase activity in cultured fibroblasts\n", + " definition of HP:6000427 (Reduced alkyl-dihydroxyacetonephosphate synthase activity in cultured fibroblasts)\n", + " \n", + " \n", + " Activity of alkyl-dihydroxyacetonephosphate (DHAP) synthase below the lower limit of normal in cultured fibroblasts.\n", + " definition of HP:6000427 (Reduced alkyl-dihydroxyacetonephosphate synthase activity in cultured fibroblasts)\n", + " \n", + " \n", + " #Reduced alkyl-DHAP synthase activity in cultured fibroblasts\n", + " definition of HP:6000427 (Reduced alkyl-dihydroxyacetonephosphate synthase activity in cultured fibroblasts)\n", + " \n", + " \n", + " Intralamellar mucoid extracellular matrix accumulation\n", + " definition of HP:0032081 (Intralamellar mucoid extracellular matrix accumulation)\n", + " \n", + " \n", + " A type of mucoid extracellular matrix accumulation in which the increase in mucoid extracellular matrix does not significantly alter the arrangement of the lamellar units.\n", + " definition of HP:0032081 (Intralamellar mucoid extracellular matrix accumulation)\n", + " \n", + " \n", + " Corpus cavernosum sclerosis\n", + " definition of HP:0100624 (Corpus cavernosum sclerosis)\n", + " \n", + " \n", + " CNS foam cells\n", + " definition of HP:0003640 (CNS foam cells)\n", + " \n", + " \n", + " The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, in the central nervous system.\n", + " definition of HP:0003640 (CNS foam cells)\n", + " \n", + " \n", + " Blistering by anatomical location\n", + " definition of HP:0033800 (Blistering by anatomical location)\n", + " \n", + " \n", + " Blistering (presence of multiple fluid filled blisters) categorized according to the body site where they occur.\n", + " definition of HP:0033800 (Blistering by anatomical location)\n", + " \n", + " \n", + " Increased core 1 O-glycan level\n", + " definition of HP:0410360 (Increased core 1 O-glycan level)\n", + " \n", + " \n", + " An abnormal increase in the concentration of core 1 O-glycans on glycoproteins.\n", + " definition of HP:0410360 (Increased core 1 O-glycan level)\n", + " \n", + " \n", + " #Increased T-antigen concentration\n", + " definition of HP:0410360 (Increased core 1 O-glycan level)\n", + " \n", + " \n", + " Abnormal nasal bone morphology\n", + " definition of HP:0010939 (Abnormal nasal bone morphology)\n", + " \n", + " \n", + " An abnormality of the nasal bone, comprising the left nasal bone and the right nasal bone.\n", + " definition of HP:0010939 (Abnormal nasal bone morphology)\n", + " \n", + " \n", + " #Abnormality of the nasal bone #Anomaly of the nasal bones\n", + " definition of HP:0010939 (Abnormal nasal bone morphology)\n", + " \n", + " \n", + " Positive stool occult blood test\n", + " definition of HP:6000221 (Positive stool occult blood test)\n", + " \n", + " \n", + " The presence of hidden (occult) blood in the stool.\n", + " definition of HP:6000221 (Positive stool occult blood test)\n", + " \n", + " \n", + " #Positive faecal occult blood test #Positive fecal occult blood test\n", + " definition of HP:6000221 (Positive stool occult blood test)\n", + " \n", + " \n", + " Lipid-laden bone-marrow macrophages\n", + " definition of HP:6000640 (Lipid-laden bone-marrow macrophages)\n", + " \n", + " \n", + " Bone marrow with increased numbers of macrophages heavily laden with lipids.\n", + " definition of HP:6000640 (Lipid-laden bone-marrow macrophages)\n", + " \n", + " \n", + " Colonic diverticula\n", + " definition of HP:0002253 (Colonic diverticula)\n", + " \n", + " \n", + " The presence of multiple diverticula of the colon.\n", + " definition of HP:0002253 (Colonic diverticula)\n", + " \n", + " \n", + " #Colonic diverticulosis\n", + " definition of HP:0002253 (Colonic diverticula)\n", + " \n", + " \n", + " Increased oocyte death\n", + " definition of HP:0032571 (Increased oocyte death)\n", + " \n", + " \n", + " An increase in death of oocytes, the female germ cell (egg cell), which can be observed clinically in the setting of in vitro fertilization.\n", + " definition of HP:0032571 (Increased oocyte death)\n", + " \n", + " \n", + " Nongranulomatous uveitis\n", + " definition of HP:0007813 (Nongranulomatous uveitis)\n", + " \n", + " \n", + " A form of uveitis that is not associated with the formation of granulomas.\n", + " definition of HP:0007813 (Nongranulomatous uveitis)\n", + " \n", + " \n", + " Fusiform abdominal aortic aneurysm\n", + " definition of HP:0031644 (Fusiform abdominal aortic aneurysm)\n", + " \n", + " \n", + " A concentric abnormal localized widening (dilatation) of the abdominal aorta that involves the full circumference of the vessel wall\n", + " definition of HP:0031644 (Fusiform abdominal aortic aneurysm)\n", + " \n", + " \n", + " Positive probe-to-bone test\n", + " definition of HP:6001105 (Positive probe-to-bone test)\n", + " \n", + " \n", + " An abnormal result of the probe-to-bone (PTB) test. The PTB test is performed by inserting a sterile, metal surgical probe into the ulcer and is positive if a hard, gritty surface is felt inside. For large wounds, this may require gentle exploration of the wound with the probe.\n", + " definition of HP:6001105 (Positive probe-to-bone test)\n", + " \n", + " \n", + " #Abnormal probe-to-bone test\n", + " definition of HP:6001105 (Positive probe-to-bone test)\n", + " \n", + " \n", + " Abnormal core 1 O-glycan level\n", + " definition of HP:0410359 (Abnormal core 1 O-glycan level)\n", + " \n", + " \n", + " An abnormal in the concentration of core 1 O-glycans on glycoproteins.\n", + " definition of HP:0410359 (Abnormal core 1 O-glycan level)\n", + " \n", + " \n", + " #Abnormal concentration of T-antigen\n", + " definition of HP:0410359 (Abnormal core 1 O-glycan level)\n", + " \n", + " \n", + " Renal interstitial IgG4+ plasma cell infiltration\n", + " definition of HP:0033069 (Renal interstitial IgG4+ plasma cell infiltration)\n", + " \n", + " \n", + " An increased number of IgG4+ plasma cells in the interstitial space of the kidney.\n", + " definition of HP:0033069 (Renal interstitial IgG4+ plasma cell infiltration)\n", + " \n", + " \n", + " Pseudoepiphysis of the proximal phalanx of the 4th finger\n", + " definition of HP:0009268 (Pseudoepiphysis of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " A secondary ossification center in the proximal phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.\n", + " definition of HP:0009268 (Pseudoepiphysis of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " Reduced sex -hormone binding protein level\n", + " definition of HP:0031419 (Reduced sex -hormone binding protein level)\n", + " \n", + " \n", + " A decreased concentration of sex-hormone binding protein in the circulation.\n", + " definition of HP:0031419 (Reduced sex -hormone binding protein level)\n", + " \n", + " \n", + " #Reduced androgen-binding protein level\n", + " definition of HP:0031419 (Reduced sex -hormone binding protein level)\n", + " \n", + " \n", + " Religious delusion\n", + " definition of HP:5200429 (Religious delusion)\n", + " \n", + " \n", + " Delusions with a religious content that are considered delusional in nature based on how the belief is held and the evidence offered to support it, which is generally considered impossible or fantastical in the cultural setting of the person. It differs from unusual beliefs that are held with tenacity or conviction and are typically associated with other phenomena consistent with mental illness.\n", + " definition of HP:5200429 (Religious delusion)\n", + " \n", + " \n", + " Irregular epiphysis of the proximal phalanx of the 5th finger\n", + " definition of HP:0009199 (Irregular epiphysis of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 5th finger.\n", + " definition of HP:0009199 (Irregular epiphysis of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " #Irregular end part of the innermost little finger bone #Irregular end part of the innermost pinkie finger bone #Irregular end part of the innermost pinky finger bone\n", + " definition of HP:0009199 (Irregular epiphysis of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " Elevated myocardial iron load\n", + " definition of HP:6000663 (Elevated myocardial iron load)\n", + " \n", + " \n", + " Increased amount of iron in myocardial tissue.\n", + " definition of HP:6000663 (Elevated myocardial iron load)\n", + " \n", + " \n", + " #Cardiac iron overload #MRI: heart iron content increased\n", + " definition of HP:6000663 (Elevated myocardial iron load)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the distal phalanx of the 2nd finger\n", + " definition of HP:0009557 (Aplasia/Hypoplasia of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Absent/small outermost index finger bone #Absent/underdeveloped outermost index finger bone\n", + " definition of HP:0009557 (Aplasia/Hypoplasia of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Hypoplastic right atrium\n", + " definition of HP:0031294 (Hypoplastic right atrium)\n", + " \n", + " \n", + " Underdeveloped, small right heart atrium.\n", + " definition of HP:0031294 (Hypoplastic right atrium)\n", + " \n", + " \n", + " Abnormal gesture use\n", + " definition of HP:4000090 (Abnormal gesture use)\n", + " \n", + " \n", + " Abnormality in the use of gestures defined as hand, shoulder, and head movements that convey a shared meaning within a culture that replace or supplement verbal communication.\n", + " definition of HP:4000090 (Abnormal gesture use)\n", + " \n", + " \n", + " #Abnormal communicative gesture use #Abnormal communicative gestures #Abnormal gestures\n", + " definition of HP:4000090 (Abnormal gesture use)\n", + " \n", + " \n", + " Cervical vertebral facet hypoplasia\n", + " definition of HP:0008461 (Cervical vertebral facet hypoplasia)\n", + " \n", + " \n", + " Abnormal circulating insulin concentration\n", + " definition of HP:0040214 (Abnormal circulating insulin concentration)\n", + " \n", + " \n", + " An abnormal concentration of insulin in the body.\n", + " definition of HP:0040214 (Abnormal circulating insulin concentration)\n", + " \n", + " \n", + " #Abnormal insulin level\n", + " definition of HP:0040214 (Abnormal circulating insulin concentration)\n", + " \n", + " \n", + " Ectopic ossification in tendon tissue\n", + " definition of HP:0011988 (Ectopic ossification in tendon tissue)\n", + " \n", + " \n", + " Formation of abnormal bony tissue within tendon tissue.\n", + " definition of HP:0011988 (Ectopic ossification in tendon tissue)\n", + " \n", + " \n", + " Neoplasm of the outer ear\n", + " definition of HP:0040095 (Neoplasm of the outer ear)\n", + " \n", + " \n", + " A tumor (abnormal growth of tissue) of the outer ear.\n", + " definition of HP:0040095 (Neoplasm of the outer ear)\n", + " \n", + " \n", + " #Outer ear tumor #Outer ear tumour\n", + " definition of HP:0040095 (Neoplasm of the outer ear)\n", + " \n", + " \n", + " Elevated circulating apolipoprotein A-IV concentration\n", + " definition of HP:0025202 (Elevated circulating apolipoprotein A-IV concentration)\n", + " \n", + " \n", + " An increased concentration in blood of apolipoprotein A-IV, a major component of HDL and chylomicrons that has a role in VLDL secretion and catabolism and is required for efficient activation of lipoprotein lipase by ApoC-II.\n", + " definition of HP:0025202 (Elevated circulating apolipoprotein A-IV concentration)\n", + " \n", + " \n", + " #Elevated apolipoprotein A-IV level\n", + " definition of HP:0025202 (Elevated circulating apolipoprotein A-IV concentration)\n", + " \n", + " \n", + " Anorectal abscess\n", + " definition of HP:0033150 (Anorectal abscess)\n", + " \n", + " \n", + " An abscess located at the junction of the anal canal and the rectum.\n", + " definition of HP:0033150 (Anorectal abscess)\n", + " \n", + " \n", + " Increased proteinogenic amino acid level in urine\n", + " definition of HP:0033100 (Increased proteinogenic amino acid level in urine)\n", + " \n", + " \n", + " An elevated level of a proteinogenic amino acid in the urine. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine.\n", + " definition of HP:0033100 (Increased proteinogenic amino acid level in urine)\n", + " \n", + " \n", + " Abnormality of the liver\n", + " definition of HP:0001392 (Abnormality of the liver)\n", + " \n", + " \n", + " An abnormality of the liver.\n", + " definition of HP:0001392 (Abnormality of the liver)\n", + " \n", + " \n", + " #Abnormal liver #Abnormality of the liver #Liver abnormality\n", + " definition of HP:0001392 (Abnormality of the liver)\n", + " \n", + " \n", + " Abnormal glomerular capillary lumen morphology\n", + " definition of HP:0033267 (Abnormal glomerular capillary lumen morphology)\n", + " \n", + " \n", + " Abnormal structural characteristics of the interior space of the capillary of the renal glomerulus.\n", + " definition of HP:0033267 (Abnormal glomerular capillary lumen morphology)\n", + " \n", + " \n", + " Abnormal circulating 18-hydroxycorticosterone level\n", + " definition of HP:0020198 (Abnormal circulating 18-hydroxycorticosterone level)\n", + " \n", + " \n", + " Any deviation from the normal concentration of 18-Hydroxycorticosterone level in the blood circulation.\n", + " definition of HP:0020198 (Abnormal circulating 18-hydroxycorticosterone level)\n", + " \n", + " \n", + " Wrist pain\n", + " definition of HP:0030836 (Wrist pain)\n", + " \n", + " \n", + " An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the wrist.\n", + " definition of HP:0030836 (Wrist pain)\n", + " \n", + " \n", + " #Wrist pain\n", + " definition of HP:0030836 (Wrist pain)\n", + " \n", + " \n", + " Hypertrichosis\n", + " definition of HP:0000998 (Hypertrichosis)\n", + " \n", + " \n", + " Hypertrichosis is increased hair growth that is abnormal in quantity or location.\n", + " definition of HP:0000998 (Hypertrichosis)\n", + " \n", + " \n", + " Torsion dystonia\n", + " definition of HP:0001304 (Torsion dystonia)\n", + " \n", + " \n", + " Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body.\n", + " definition of HP:0001304 (Torsion dystonia)\n", + " \n", + " \n", + " #Dystonia musculorum deformans\n", + " definition of HP:0001304 (Torsion dystonia)\n", + " \n", + " \n", + " Hemophagocytosis\n", + " definition of HP:0012156 (Hemophagocytosis)\n", + " \n", + " \n", + " Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues.\n", + " definition of HP:0012156 (Hemophagocytosis)\n", + " \n", + " \n", + " Abnormal fetal skin morphology\n", + " definition of HP:0025723 (Abnormal fetal skin morphology)\n", + " \n", + " \n", + " Any structural anomaly of the skin of the fetus or newborn. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.\n", + " definition of HP:0025723 (Abnormal fetal skin morphology)\n", + " \n", + " \n", + " Metaphyseal cupping of metacarpals\n", + " definition of HP:0006028 (Metaphyseal cupping of metacarpals)\n", + " \n", + " \n", + " Metaphyseal cupping affecting the metacarpal bones.\n", + " definition of HP:0006028 (Metaphyseal cupping of metacarpals)\n", + " \n", + " \n", + " #Cupping of wide portion of long bone of hand #Metacarpal/metaphyseal cupping\n", + " definition of HP:0006028 (Metaphyseal cupping of metacarpals)\n", + " \n", + " \n", + " Chorea\n", + " definition of HP:0002072 (Chorea)\n", + " \n", + " \n", + " Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.\n", + " definition of HP:0002072 (Chorea)\n", + " \n", + " \n", + " #Choreic movements #Choreiform movements\n", + " definition of HP:0002072 (Chorea)\n", + " \n", + " \n", + " Hyperamylasemia\n", + " definition of HP:0410288 (Hyperamylasemia)\n", + " \n", + " \n", + " Increased level of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands.\n", + " definition of HP:0410288 (Hyperamylasemia)\n", + " \n", + " \n", + " #Increased circulating amylase level\n", + " definition of HP:0410288 (Hyperamylasemia)\n", + " \n", + " \n", + " Miosis\n", + " definition of HP:0000616 (Miosis)\n", + " \n", + " \n", + " Abnormal (non-physiological) constriction of the pupil.\n", + " definition of HP:0000616 (Miosis)\n", + " \n", + " \n", + " #Constricted pupils #Pupillary constriction\n", + " definition of HP:0000616 (Miosis)\n", + " \n", + " \n", + " Ectopia pupillae\n", + " definition of HP:0009918 (Ectopia pupillae)\n", + " \n", + " \n", + " A malposition of the pupil owing to a developmental defect of the iris.\n", + " definition of HP:0009918 (Ectopia pupillae)\n", + " \n", + " \n", + " #Corectopia #Displaced pupil\n", + " definition of HP:0009918 (Ectopia pupillae)\n", + " \n", + " \n", + " Abnormal osteoclast count\n", + " definition of HP:0030327 (Abnormal osteoclast count)\n", + " \n", + " \n", + " An anomaly in the number of osteoclasts in bone tissue, bone-resorbing cells that develop from macrophages. This finding can be observed by histological examination of bone tissue.\n", + " definition of HP:0030327 (Abnormal osteoclast count)\n", + " \n", + " \n", + " Double depressor palsy\n", + " definition of HP:0020042 (Double depressor palsy)\n", + " \n", + " \n", + " An ocular movement abnormality characterized by simultaneous weakness of the inferior rectus muscle and superior oblique muscle of the same eye.\n", + " definition of HP:0020042 (Double depressor palsy)\n", + " \n", + " \n", + " Ameliorated by menopause\n", + " definition of HP:0040408 (Ameliorated by menopause)\n", + " \n", + " \n", + " Applies to a sign or symptom that is improved or made more bearable by menopause.\n", + " definition of HP:0040408 (Ameliorated by menopause)\n", + " \n", + " \n", + " Left atrial fibrosis\n", + " definition of HP:6000691 (Left atrial fibrosis)\n", + " \n", + " \n", + " Atrial fibrosis is an hallmark of atrial structural remodelling, characterized by the aberrant activation, proliferation and differentiation of fibroblasts, and subsequent excessive synthesis and irregular deposition of extracellular matrix proteins.\n", + " definition of HP:6000691 (Left atrial fibrosis)\n", + " \n", + " \n", + " Granular macular appearance\n", + " definition of HP:0007793 (Granular macular appearance)\n", + " \n", + " \n", + " Mottled (spotted or blotched with different shades) pigmentary abnormality of the macula lutea.\n", + " definition of HP:0007793 (Granular macular appearance)\n", + " \n", + " \n", + " #Macular retinal pigment epithelial mottling\n", + " definition of HP:0007793 (Granular macular appearance)\n", + " \n", + " \n", + " Microangiopathic hemolytic anemia\n", + " definition of HP:0001937 (Microangiopathic hemolytic anemia)\n", + " \n", + " \n", + " #Microangiopathic hemolytic anaemia\n", + " definition of HP:0001937 (Microangiopathic hemolytic anemia)\n", + " \n", + " \n", + " Anterior polar cataract\n", + " definition of HP:0001134 (Anterior polar cataract)\n", + " \n", + " \n", + " A polar cataract that affects the anterior pole of the lens.\n", + " definition of HP:0001134 (Anterior polar cataract)\n", + " \n", + " \n", + " #Polar cataract, anterior\n", + " definition of HP:0001134 (Anterior polar cataract)\n", + " \n", + " \n", + " Elevated circulating CCL3 concentration\n", + " definition of HP:6000687 (Elevated circulating CCL3 concentration)\n", + " \n", + " \n", + " The concentration of C-C Motif Ligand 3 (CCL3) in the blood circulation is above the upper limit of normal.\n", + " definition of HP:6000687 (Elevated circulating CCL3 concentration)\n", + " \n", + " \n", + " Chiari type II malformation\n", + " definition of HP:0025660 (Chiari type II malformation)\n", + " \n", + " \n", + " A type of Chiari malformation that consists of brainstem herniation and a towering cerebellum in addition to the herniated cerebellar tonsils and vermis due to an open distal spinal dysraphism/myelomeningocele.\n", + " definition of HP:0025660 (Chiari type II malformation)\n", + " \n", + " \n", + " #Arnold-Chiari type II malformation\n", + " definition of HP:0025660 (Chiari type II malformation)\n", + " \n", + " \n", + " Interictal epileptiform activity\n", + " definition of HP:0011182 (Interictal epileptiform activity)\n", + " \n", + " \n", + " Epileptiform activity refers to distinctive EEG waves or complexes distinguished from background activity found in in a proportion of human subjects with epilepsy, but which can also be found in subjects without seizures. Interictal epileptiform activity refers to such activity that occurs in the absence of a clinical or subclinical seizure.\n", + " definition of HP:0011182 (Interictal epileptiform activity)\n", + " \n", + " \n", + " #Epileptiform EEG discharges\n", + " definition of HP:0011182 (Interictal epileptiform activity)\n", + " \n", + " \n", + " Abnormality of lateral rectus extra-ocular muscle\n", + " definition of HP:3000069 (Abnormality of lateral rectus extra-ocular muscle)\n", + " \n", + " \n", + " An abnormality of a lateral rectus extra-ocular muscle.\n", + " definition of HP:3000069 (Abnormality of lateral rectus extra-ocular muscle)\n", + " \n", + " \n", + " Anti-bactericidal/permeability-increasing protein antibody positivity\n", + " definition of HP:0033561 (Anti-bactericidal/permeability-increasing protein antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies in the blood circulation that react against bactericidal/permeability-increasing protein (BPI). BPI is an endotoxin-binding host protein with important antibacterial effects against Gram-negative bacteria, such as Pseudomonas aeruginosa. BPI is a 55 kDalton protein that is most abundant in the azurophilic granules of neutrophils. BPI also acts as a target antigen for antineutrophil cytoplasmic autoantibodies.\n", + " definition of HP:0033561 (Anti-bactericidal/permeability-increasing protein antibody positivity)\n", + " \n", + " \n", + " #Anti-BPI antibody positivity\n", + " definition of HP:0033561 (Anti-bactericidal/permeability-increasing protein antibody positivity)\n", + " \n", + " \n", + " Overjet\n", + " definition of HP:0011095 (Overjet)\n", + " \n", + " \n", + " An abnormal anteroposterior extension of the maxillary teeth beyond the plane of the mandibular teeth upon jaw closure.\n", + " definition of HP:0011095 (Overjet)\n", + " \n", + " \n", + " #Abnormality of horizontal incisor relationship #Protrusion of upper teeth in front of lower teeth\n", + " definition of HP:0011095 (Overjet)\n", + " \n", + " \n", + " Decreased salivary cortisol level\n", + " definition of HP:0033014 (Decreased salivary cortisol level)\n", + " \n", + " \n", + " Abnormally reduced concentration of cortisol in saliva.\n", + " definition of HP:0033014 (Decreased salivary cortisol level)\n", + " \n", + " \n", + " Decreased CSF N-acetylaspartic acid concentration\n", + " definition of HP:6000674 (Decreased CSF N-acetylaspartic acid concentration)\n", + " \n", + " \n", + " Concentration of N-acetylaspartic acid in the cerebrospinal fluid below the lower limit of normal.\n", + " definition of HP:6000674 (Decreased CSF N-acetylaspartic acid concentration)\n", + " \n", + " \n", + " #Decreased CSF N-acetylaspartate acid concentration #N-acetylaspartate absent in CSF\n", + " definition of HP:6000674 (Decreased CSF N-acetylaspartic acid concentration)\n", + " \n", + " \n", + " Diaphyseal sclerosis\n", + " definition of HP:0003034 (Diaphyseal sclerosis)\n", + " \n", + " \n", + " An elevation in bone density in one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity.\n", + " definition of HP:0003034 (Diaphyseal sclerosis)\n", + " \n", + " \n", + " #Craniodiaphyseal osteosclerosis #Diaphyseal osteosclerosis #Increased bone density in shaft of long bone\n", + " definition of HP:0003034 (Diaphyseal sclerosis)\n", + " \n", + " \n", + " Choking episodes\n", + " definition of HP:0030842 (Choking episodes)\n", + " \n", + " \n", + " Incidents in which a piece of food or other objects get stuck in the upper airway and provoke coughing, gagging, inability to talk, and difficulty breathing.\n", + " definition of HP:0030842 (Choking episodes)\n", + " \n", + " \n", + " Thickened tibial cortex\n", + " definition of HP:6000809 (Thickened tibial cortex)\n", + " \n", + " \n", + " Abnormally increased thicknes of the cortical layer of the tibia.\n", + " definition of HP:6000809 (Thickened tibial cortex)\n", + " \n", + " \n", + " #Thickened cortex of the tibia\n", + " definition of HP:6000809 (Thickened tibial cortex)\n", + " \n", + " \n", + " Fragmentation of the epiphysis of the middle phalanx of the 3rd toe\n", + " definition of HP:0100150 (Fragmentation of the epiphysis of the middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Fragmentation of the end part of the middle bone of the 3rd toe\n", + " definition of HP:0100150 (Fragmentation of the epiphysis of the middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " Aplasia/hypoplasia involving bones of the extremities\n", + " definition of HP:0045060 (Aplasia/hypoplasia involving bones of the extremities)\n", + " \n", + " \n", + " Triangular shaped distal phalanx of the 5th toe\n", + " definition of HP:0100487 (Triangular shaped distal phalanx of the 5th toe)\n", + " \n", + " \n", + " #Triangular shaped outermost bone of the little toe #Triangular shaped outermost bone of the pinkie toe #Triangular shaped outermost bone of the pinky toe\n", + " definition of HP:0100487 (Triangular shaped distal phalanx of the 5th toe)\n", + " \n", + " \n", + " Anti-CASPR2\n", + " definition of HP:5000005 (Anti-CASPR2)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against contactin-associated protein-like 2 (CASPR2).\n", + " definition of HP:5000005 (Anti-CASPR2)\n", + " \n", + " \n", + " #Anti-Caspr2 antibody #Anti-contactin-associated protein-like 2 antibody\n", + " definition of HP:5000005 (Anti-CASPR2)\n", + " \n", + " \n", + " Increased fibular diameter\n", + " definition of HP:0012107 (Increased fibular diameter)\n", + " \n", + " \n", + " Increased width of the cross sectional diameter of the fibula.\n", + " definition of HP:0012107 (Increased fibular diameter)\n", + " \n", + " \n", + " #Thick fibula #Thick fibulae #Wide calf bone #Wide fibula\n", + " definition of HP:0012107 (Increased fibular diameter)\n", + " \n", + " \n", + " Deep palmar crease\n", + " definition of HP:0006191 (Deep palmar crease)\n", + " \n", + " \n", + " Excessively deep creases of the palm.\n", + " definition of HP:0006191 (Deep palmar crease)\n", + " \n", + " \n", + " #Deep palm line #Deep palmar creases\n", + " definition of HP:0006191 (Deep palmar crease)\n", + " \n", + " \n", + " Absent frontal sinuses\n", + " definition of HP:0002688 (Absent frontal sinuses)\n", + " \n", + " \n", + " Aplasia of frontal sinus.\n", + " definition of HP:0002688 (Absent frontal sinuses)\n", + " \n", + " \n", + " #Absence of frontal sinuses #Absent frontal sinus #Missing frontal sinus\n", + " definition of HP:0002688 (Absent frontal sinuses)\n", + " \n", + " \n", + " Abnormal cerebral vein morphology\n", + " definition of HP:0012480 (Abnormal cerebral vein morphology)\n", + " \n", + " \n", + " An anomaly of cerebral veins.\n", + " definition of HP:0012480 (Abnormal cerebral vein morphology)\n", + " \n", + " \n", + " #Abnormality of cerebral veins\n", + " definition of HP:0012480 (Abnormal cerebral vein morphology)\n", + " \n", + " \n", + " Mitral valve calcification\n", + " definition of HP:0004382 (Mitral valve calcification)\n", + " \n", + " \n", + " Abnormal calcification of the mitral valve.\n", + " definition of HP:0004382 (Mitral valve calcification)\n", + " \n", + " \n", + " Calf muscle hypertrophy\n", + " definition of HP:0008981 (Calf muscle hypertrophy)\n", + " \n", + " \n", + " Muscle hypertrophy affecting the calf muscles.\n", + " definition of HP:0008981 (Calf muscle hypertrophy)\n", + " \n", + " \n", + " #Calf hypertrophy #Increased size of calf muscles #Muscular hypertrophy of the calf muscles\n", + " definition of HP:0008981 (Calf muscle hypertrophy)\n", + " \n", + " \n", + " Short lingual frenulum\n", + " definition of HP:0000200 (Short lingual frenulum)\n", + " \n", + " \n", + " The presence of an abnormally short lingual frenulum.\n", + " definition of HP:0000200 (Short lingual frenulum)\n", + " \n", + " \n", + " #Deficiency of lingual frenulum #Short lingual frenum #Short tongue frenulum #Short tongue frenum #Tight lingual frenulum\n", + " definition of HP:0000200 (Short lingual frenulum)\n", + " \n", + " \n", + " Cutaneous amyloidosis\n", + " definition of HP:0012309 (Cutaneous amyloidosis)\n", + " \n", + " \n", + " The presence of amyloid deposition in the superficial dermis.\n", + " definition of HP:0012309 (Cutaneous amyloidosis)\n", + " \n", + " \n", + " Auriculitis\n", + " definition of HP:6000772 (Auriculitis)\n", + " \n", + " \n", + " Inflammation of the skin and soft tissues of the outer ear.\n", + " definition of HP:6000772 (Auriculitis)\n", + " \n", + " \n", + " #Auricular inflammation\n", + " definition of HP:6000772 (Auriculitis)\n", + " \n", + " \n", + " Thickening of the tubular basement membrane\n", + " definition of HP:0020132 (Thickening of the tubular basement membrane)\n", + " \n", + " \n", + " Increase in thickness of the basement membrane of the tubulus of the kidney.\n", + " definition of HP:0020132 (Thickening of the tubular basement membrane)\n", + " \n", + " \n", + " Abnormality of upper eyelashes\n", + " definition of HP:0040051 (Abnormality of upper eyelashes)\n", + " \n", + " \n", + " #Abnormality of upper eyelashes\n", + " definition of HP:0040051 (Abnormality of upper eyelashes)\n", + " \n", + " \n", + " Anti-tissue transglutaminase antibody positivity\n", + " definition of HP:0033563 (Anti-tissue transglutaminase antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against tissue transglutaminase.\n", + " definition of HP:0033563 (Anti-tissue transglutaminase antibody positivity)\n", + " \n", + " \n", + " #Anti-tTG antibody positivity\n", + " definition of HP:0033563 (Anti-tissue transglutaminase antibody positivity)\n", + " \n", + " \n", + " Multiple impacted teeth\n", + " definition of HP:0001571 (Multiple impacted teeth)\n", + " \n", + " \n", + " The presence of multiple impacted teeth.\n", + " definition of HP:0001571 (Multiple impacted teeth)\n", + " \n", + " \n", + " #Impacted teeth #Multiple impacted teeth\n", + " definition of HP:0001571 (Multiple impacted teeth)\n", + " \n", + " \n", + " Bilateral renal hypoplasia\n", + " definition of HP:0012584 (Bilateral renal hypoplasia)\n", + " \n", + " \n", + " Two sided hypoplasia of the kidney.\n", + " definition of HP:0012584 (Bilateral renal hypoplasia)\n", + " \n", + " \n", + " Abnormal glomerular mesangial cellularity\n", + " definition of HP:0033231 (Abnormal glomerular mesangial cellularity)\n", + " \n", + " \n", + " Abnormal number of its constituent cells of the mesangium of the glomerulus of the kidney.\n", + " definition of HP:0033231 (Abnormal glomerular mesangial cellularity)\n", + " \n", + " \n", + " Coffee ground vomitus\n", + " definition of HP:0032144 (Coffee ground vomitus)\n", + " \n", + " \n", + " Vomit that has the appearance of coffee grounds, which occurs due to the presence of coagulated blood in the vomit.\n", + " definition of HP:0032144 (Coffee ground vomitus)\n", + " \n", + " \n", + " #Coffee grounds emesis #Coffee grounds vomiting\n", + " definition of HP:0032144 (Coffee ground vomitus)\n", + " \n", + " \n", + " Abnormality of the epiphyses of the hallux\n", + " definition of HP:0010056 (Abnormality of the epiphyses of the hallux)\n", + " \n", + " \n", + " #Abnormality of the end part of the big toe bone\n", + " definition of HP:0010056 (Abnormality of the epiphyses of the hallux)\n", + " \n", + " \n", + " Hypoplastic anemia\n", + " definition of HP:0001908 (Hypoplastic anemia)\n", + " \n", + " \n", + " Anemia with varying degrees of erythrocytic hypoplasia without leukopenia or thrombocytopenia.\n", + " definition of HP:0001908 (Hypoplastic anemia)\n", + " \n", + " \n", + " #Hypoplastic anaemia\n", + " definition of HP:0001908 (Hypoplastic anemia)\n", + " \n", + " \n", + " Absent muscle dystrophin expression\n", + " definition of HP:0030097 (Absent muscle dystrophin expression)\n", + " \n", + " \n", + " Lack of dystrophin in muscle tissue. Immunohistochemistry reveals absent dystrophin protein in the muscle biopsy.\n", + " definition of HP:0030097 (Absent muscle dystrophin expression)\n", + " \n", + " \n", + " Hyperglutaminemia\n", + " definition of HP:0003217 (Hyperglutaminemia)\n", + " \n", + " \n", + " An increased concentration of glutamine in the blood.\n", + " definition of HP:0003217 (Hyperglutaminemia)\n", + " \n", + " \n", + " #High plasma glutamine\n", + " definition of HP:0003217 (Hyperglutaminemia)\n", + " \n", + " \n", + " Decreased urinary guanosine level\n", + " definition of HP:0033160 (Decreased urinary guanosine level)\n", + " \n", + " \n", + " The amount of guanosine in the urine, normalized for urine concentration, is below the lower limit of normal. Guanosine is a purine nucleoside in which guanine is attached to ribofuranose via a beta-N(9)-glycosidic bond.\n", + " definition of HP:0033160 (Decreased urinary guanosine level)\n", + " \n", + " \n", + " Abnormality of musculature of soft palate\n", + " definition of HP:0430014 (Abnormality of musculature of soft palate)\n", + " \n", + " \n", + " An abnormality of one or more of the five muscles of the soft palate.\n", + " definition of HP:0430014 (Abnormality of musculature of soft palate)\n", + " \n", + " \n", + " #Abnormality of soft palate muscles\n", + " definition of HP:0430014 (Abnormality of musculature of soft palate)\n", + " \n", + " \n", + " Lemon sign\n", + " definition of HP:0032269 (Lemon sign)\n", + " \n", + " \n", + " The lemon sign refers to the shape of the fetal skull at ultrasonography (US) when the frontal bones lose their normal convex contour and appear flattened or inwardly scalloped. This gives the skull a shape that is said to resemble a lemon.. The sign is seen on transverse sonograms of the fetal cranium obtained at the level of the ventricles.\n", + " definition of HP:0032269 (Lemon sign)\n", + " \n", + " \n", + " Duplication of renal pelvis\n", + " definition of HP:0005580 (Duplication of renal pelvis)\n", + " \n", + " \n", + " A duplication of the renal pelvis.\n", + " definition of HP:0005580 (Duplication of renal pelvis)\n", + " \n", + " \n", + " Reduced hepatic carbamoylphosphate synthetase 1 activity\n", + " definition of HP:0034996 (Reduced hepatic carbamoylphosphate synthetase 1 activity)\n", + " \n", + " \n", + " Activity of carbamoylphosphate synthetase 1 in the liver below the lower limit of normal.\n", + " definition of HP:0034996 (Reduced hepatic carbamoylphosphate synthetase 1 activity)\n", + " \n", + " \n", + " Increased urinary porphobilinogen\n", + " definition of HP:0012217 (Increased urinary porphobilinogen)\n", + " \n", + " \n", + " The concentration of porphobilinogen in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:0012217 (Increased urinary porphobilinogen)\n", + " \n", + " \n", + " Hearing abnormality\n", + " definition of HP:0000364 (Hearing abnormality)\n", + " \n", + " \n", + " An abnormality of the sensory perception of sound.\n", + " definition of HP:0000364 (Hearing abnormality)\n", + " \n", + " \n", + " #Abnormal hearing #Hearing abnormality\n", + " definition of HP:0000364 (Hearing abnormality)\n", + " \n", + " \n", + " Alternating hyperphoria\n", + " definition of HP:0500077 (Alternating hyperphoria)\n", + " \n", + " \n", + " A type of vertical phoria in which, in dissociation, the occluded eye deviates upwards.\n", + " definition of HP:0500077 (Alternating hyperphoria)\n", + " \n", + " \n", + " Fracture type\n", + " definition of HP:4000042 (Fracture type)\n", + " \n", + " \n", + " Category of fracture. Terms from this subontology can be used together with terms in the subontology that descends from Bone fracture (HP:0020110).\n", + " definition of HP:4000042 (Fracture type)\n", + " \n", + " \n", + " Abnormal flow cytometry test result\n", + " definition of HP:0031550 (Abnormal flow cytometry test result)\n", + " \n", + " \n", + " Any abnormal result of flow cytometry, a method that suspends cells in a stream of fluid and passes them through an electronic detection apparatus in order to assess cell count or measure biomarkers or surface molecules.\n", + " definition of HP:0031550 (Abnormal flow cytometry test result)\n", + " \n", + " \n", + " Invasive fungal infection\n", + " definition of HP:0020101 (Invasive fungal infection)\n", + " \n", + " \n", + " Fungal infection characterized by invasion of host tissues.\n", + " definition of HP:0020101 (Invasive fungal infection)\n", + " \n", + " \n", + " Large cell lung carcinoma\n", + " definition of HP:0030360 (Large cell lung carcinoma)\n", + " \n", + " \n", + " A type of non-small cell lung carcinoma that is derived from undifferentiated malignant neoplasms originating from transformed epithelial cells in the lung, and which is differentiate from small-cell lung carcinoma by the larger size of the anaplastic cells, a higher cytoplasmic-to-nuclear size ratio, and a lack of salt-and-pepper appearance of the chromatin.\n", + " definition of HP:0030360 (Large cell lung carcinoma)\n", + " \n", + " \n", + " Abnormal angiostatin level\n", + " definition of HP:0031439 (Abnormal angiostatin level)\n", + " \n", + " \n", + " A deviation from the normal concentration in the circulation of angiostatin, an endogenous angiogenesis inhibitor, which blocks the growth of new blood vessels.\n", + " definition of HP:0031439 (Abnormal angiostatin level)\n", + " \n", + " \n", + " Enlarged thalamic volume\n", + " definition of HP:0012694 (Enlarged thalamic volume)\n", + " \n", + " \n", + " An increase in the quantity of space occupied by the thalamus.\n", + " definition of HP:0012694 (Enlarged thalamic volume)\n", + " \n", + " \n", + " Epiphyseal stippling of the metacarpals\n", + " definition of HP:0009195 (Epiphyseal stippling of the metacarpals)\n", + " \n", + " \n", + " The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the metacarpals.\n", + " definition of HP:0009195 (Epiphyseal stippling of the metacarpals)\n", + " \n", + " \n", + " #Speckled calcifications in end part of the long bone of hand #Stippling of the epiphyses of the metacarpals\n", + " definition of HP:0009195 (Epiphyseal stippling of the metacarpals)\n", + " \n", + " \n", + " Amyotrophy involving the shoulder musculature\n", + " definition of HP:0001465 (Amyotrophy involving the shoulder musculature)\n", + " \n", + " \n", + " #Shoulder muscle degeneration #Wasting of shoulder muscles\n", + " definition of HP:0001465 (Amyotrophy involving the shoulder musculature)\n", + " \n", + " \n", + " Abnormal proportion of naive T cells\n", + " definition of HP:0031396 (Abnormal proportion of naive T cells)\n", + " \n", + " \n", + " Any abnormality in the proportion of naive T cells relative to the total number of T cells.\n", + " definition of HP:0031396 (Abnormal proportion of naive T cells)\n", + " \n", + " \n", + " #Abnormal naive T cell proportion #Abnormal proportion of naive thymus-derived, alpha-beta T cells\n", + " definition of HP:0031396 (Abnormal proportion of naive T cells)\n", + " \n", + " \n", + " Absent epiphyses of the 4th toe\n", + " definition of HP:0100066 (Absent epiphyses of the 4th toe)\n", + " \n", + " \n", + " #Absent end part of the 4th toe bone\n", + " definition of HP:0100066 (Absent epiphyses of the 4th toe)\n", + " \n", + " \n", + " Increased level of methylsuccinic acid in urine\n", + " definition of HP:0410153 (Increased level of methylsuccinic acid in urine)\n", + " \n", + " \n", + " The concentration of methylsuccinic acid in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:0410153 (Increased level of methylsuccinic acid in urine)\n", + " \n", + " \n", + " #Increased level of pyrotartaric acid in urine\n", + " definition of HP:0410153 (Increased level of methylsuccinic acid in urine)\n", + " \n", + " \n", + " Long telomere length\n", + " definition of HP:6000036 (Long telomere length)\n", + " \n", + " \n", + " Abnormally long telomeres in somatic cells.\n", + " definition of HP:6000036 (Long telomere length)\n", + " \n", + " \n", + " #Elongated telomeres\n", + " definition of HP:6000036 (Long telomere length)\n", + " \n", + " \n", + " Aplasia of the olfactory bulb\n", + " definition of HP:0032466 (Aplasia of the olfactory bulb)\n", + " \n", + " \n", + " Lack of formation (congenital absence) of the olfactory bulb.\n", + " definition of HP:0032466 (Aplasia of the olfactory bulb)\n", + " \n", + " \n", + " #Aplastic olfactory bulb #Olfactory bulb aplasia\n", + " definition of HP:0032466 (Aplasia of the olfactory bulb)\n", + " \n", + " \n", + " Abnormal heart valve physiology\n", + " definition of HP:0031653 (Abnormal heart valve physiology)\n", + " \n", + " \n", + " Any functional abnormality of a cardiac valve.\n", + " definition of HP:0031653 (Abnormal heart valve physiology)\n", + " \n", + " \n", + " Anti-D2 R antibody\n", + " definition of HP:5000043 (Anti-D2 R antibody)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against dopamine-2 receptor.\n", + " definition of HP:5000043 (Anti-D2 R antibody)\n", + " \n", + " \n", + " #Anti-dopamine-2 receptors (D2R) antibody\n", + " definition of HP:5000043 (Anti-D2 R antibody)\n", + " \n", + " \n", + " Abnormal dental root morphology\n", + " definition of HP:0006486 (Abnormal dental root morphology)\n", + " \n", + " \n", + " An abnormality of the dental root.\n", + " definition of HP:0006486 (Abnormal dental root morphology)\n", + " \n", + " \n", + " #Abnormality of the dental root #Abnormality of tooth root #Dental root anomaly\n", + " definition of HP:0006486 (Abnormal dental root morphology)\n", + " \n", + " \n", + " Paradoxical myotonia\n", + " definition of HP:0011809 (Paradoxical myotonia)\n", + " \n", + " \n", + " A type of myotonia that worsens with repeated muscle contractions.\n", + " definition of HP:0011809 (Paradoxical myotonia)\n", + " \n", + " \n", + " Increased anti-plant based food allergen IgE antibody level\n", + " definition of HP:0410228 (Increased anti-plant based food allergen IgE antibody level)\n", + " \n", + " \n", + " Increased level of IgE antibody against a plant based food allergen, including vegetables and fruits.\n", + " definition of HP:0410228 (Increased anti-plant based food allergen IgE antibody level)\n", + " \n", + " \n", + " #Increased level of anti-plant based food allergen IgE antibody\n", + " definition of HP:0410228 (Increased anti-plant based food allergen IgE antibody level)\n", + " \n", + " \n", + " Elevated urinary glutarylglycine level\n", + " definition of HP:6000129 (Elevated urinary glutarylglycine level)\n", + " \n", + " \n", + " The amount of glutarylglycine in the urine, normalized for urine concentration, is below the lower limit of normal.\n", + " definition of HP:6000129 (Elevated urinary glutarylglycine level)\n", + " \n", + " \n", + " Excluded\n", + " definition of HP:0040285 (Excluded)\n", + " \n", + " \n", + " Present in 0% of the cases.\n", + " definition of HP:0040285 (Excluded)\n", + " \n", + " \n", + " #Excluded (0%)\n", + " definition of HP:0040285 (Excluded)\n", + " \n", + " \n", + " Abnormal head blood vessel morphology\n", + " definition of HP:3000036 (Abnormal head blood vessel morphology)\n", + " \n", + " \n", + " An abnormality of a blood vessel of the head, including branches of the arterial and venous systems of the head.\n", + " definition of HP:3000036 (Abnormal head blood vessel morphology)\n", + " \n", + " \n", + " #Abnormality of blood vessel of head #Abnormality of head blood vessel #Abnormality of vasculature of head\n", + " definition of HP:3000036 (Abnormal head blood vessel morphology)\n", + " \n", + " \n", + " Benign gastrointestinal tract tumors\n", + " definition of HP:0006719 (Benign gastrointestinal tract tumors)\n", + " \n", + " \n", + " #Benign gastrointestinal tract tumours #Benign GI tract tumors #Benign GI tract tumours #Non-cancerous GI tumors #Non-cancerous GI tumours\n", + " definition of HP:0006719 (Benign gastrointestinal tract tumors)\n", + " \n", + " \n", + " Biliary cirrhosis\n", + " definition of HP:0002613 (Biliary cirrhosis)\n", + " \n", + " \n", + " Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease.\n", + " definition of HP:0002613 (Biliary cirrhosis)\n", + " \n", + " \n", + " Elevated circulating membrane cofactor protein concentration\n", + " definition of HP:0034620 (Elevated circulating membrane cofactor protein concentration)\n", + " \n", + " \n", + " Concentration of membrane cofactor protein in the blood circulation above the upper limit of normal.\n", + " definition of HP:0034620 (Elevated circulating membrane cofactor protein concentration)\n", + " \n", + " \n", + " #Elevated circulating CD46 concentration\n", + " definition of HP:0034620 (Elevated circulating membrane cofactor protein concentration)\n", + " \n", + " \n", + " EEG with persistent abnormal rhythmic activity\n", + " definition of HP:0010846 (EEG with persistent abnormal rhythmic activity)\n", + " \n", + " \n", + " #EEG: persistent abnormal rhythmic activity\n", + " definition of HP:0010846 (EEG with persistent abnormal rhythmic activity)\n", + " \n", + " \n", + " Increased circulating iron concentration\n", + " definition of HP:0003452 (Increased circulating iron concentration)\n", + " \n", + " \n", + " The concentration of iron in the blood circulation is above the upper limit of normal.\n", + " definition of HP:0003452 (Increased circulating iron concentration)\n", + " \n", + " \n", + " #Increased serum iron\n", + " definition of HP:0003452 (Increased circulating iron concentration)\n", + " \n", + " \n", + " Recurrent encephalopathy\n", + " definition of HP:0007335 (Recurrent encephalopathy)\n", + " \n", + " \n", + " Recurrent episodes of brain dysfunction that may be triggered by factors such as metabolic disturbances or infections.\n", + " definition of HP:0007335 (Recurrent encephalopathy)\n", + " \n", + " \n", + " #Recurrent cerebellar and extrapyramidal encephalopathy\n", + " definition of HP:0007335 (Recurrent encephalopathy)\n", + " \n", + " \n", + " Renal lymphangiectasia\n", + " definition of HP:6000073 (Renal lymphangiectasia)\n", + " \n", + " \n", + " A developmental anomaly of renal lymphatics that results from a failure of the lymphatics to make communication with the rest of the lymph trunks. The abnormal lymphatics thus dilate and form cystic spaces at the renal sinus and in the perinephric space.\n", + " definition of HP:6000073 (Renal lymphangiectasia)\n", + " \n", + " \n", + " #Hygroma renale #Peripelvic lymphangiectasia #Renal lymphangiomatosis\n", + " definition of HP:6000073 (Renal lymphangiectasia)\n", + " \n", + " \n", + " Tubulointerstitial viral infiltration\n", + " definition of HP:0032636 (Tubulointerstitial viral infiltration)\n", + " \n", + " \n", + " Infiltration of viruses into renal tubulointerstitial tissues as demonstrated on renal biopsy by viral inclusions which can be seen on routine stains or with immunohistochemistry.\n", + " definition of HP:0032636 (Tubulointerstitial viral infiltration)\n", + " \n", + " \n", + " #Renal tubulointerstitial viral inclusions\n", + " definition of HP:0032636 (Tubulointerstitial viral infiltration)\n", + " \n", + " \n", + " Right bundle branch block\n", + " definition of HP:0011712 (Right bundle branch block)\n", + " \n", + " \n", + " A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG.\n", + " definition of HP:0011712 (Right bundle branch block)\n", + " \n", + " \n", + " #Right bundle-branch block\n", + " definition of HP:0011712 (Right bundle branch block)\n", + " \n", + " \n", + " Myxomatous mitral valve degeneration\n", + " definition of HP:0004764 (Myxomatous mitral valve degeneration)\n", + " \n", + " \n", + " Myxomatous mitral valve is defined as the presence of excess leaflet tissue and leaflet thickening greater than 5 mm, resulting in a prolapse greater than 2 mm into the left atrium on parasternal long axis view.\n", + " definition of HP:0004764 (Myxomatous mitral valve degeneration)\n", + " \n", + " \n", + " Type A2 brachydactyly\n", + " definition of HP:0009372 (Type A2 brachydactyly)\n", + " \n", + " \n", + " #Short index fingers and second toes\n", + " definition of HP:0009372 (Type A2 brachydactyly)\n", + " \n", + " \n", + " Focal sensory seizure with gustatory features\n", + " definition of HP:0011160 (Focal sensory seizure with gustatory features)\n", + " \n", + " \n", + " A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes as its first clinical manifestation.\n", + " definition of HP:0011160 (Focal sensory seizure with gustatory features)\n", + " \n", + " \n", + " #Focal gustatory seizure #Focal sensory gustatory seizure #Gustatory aura #Gustatory auras #Partial gustatory seizure #Taste hallucinations\n", + " definition of HP:0011160 (Focal sensory seizure with gustatory features)\n", + " \n", + " \n", + " Impotence\n", + " definition of HP:0000802 (Impotence)\n", + " \n", + " \n", + " Inability to develop or maintain an erection of the penis.\n", + " definition of HP:0000802 (Impotence)\n", + " \n", + " \n", + " #Difficulty getting a full erection #Difficulty getting an erection\n", + " definition of HP:0000802 (Impotence)\n", + " \n", + " \n", + " Abnormal nasal cavity morphology\n", + " definition of HP:0010640 (Abnormal nasal cavity morphology)\n", + " \n", + " \n", + " Abnormality of the nasal cavity (the cavity includes and starts at the nares and reaches all the way through to the and includes the choanae, the posterior nasal apertures).\n", + " definition of HP:0010640 (Abnormal nasal cavity morphology)\n", + " \n", + " \n", + " #Abnormality of the nasal cavity\n", + " definition of HP:0010640 (Abnormal nasal cavity morphology)\n", + " \n", + " \n", + " Involuntary movements\n", + " definition of HP:0004305 (Involuntary movements)\n", + " \n", + " \n", + " Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face.\n", + " definition of HP:0004305 (Involuntary movements)\n", + " \n", + " \n", + " #Involuntary movements #Involuntary muscle contractions\n", + " definition of HP:0004305 (Involuntary movements)\n", + " \n", + " \n", + " Ulnar deviation of the 5th finger\n", + " definition of HP:0009180 (Ulnar deviation of the 5th finger)\n", + " \n", + " \n", + " Displacement of the 5th finger towards the ulnar side.\n", + " definition of HP:0009180 (Ulnar deviation of the 5th finger)\n", + " \n", + " \n", + " Abnormality of the epiphysis of the distal phalanx of the thumb\n", + " definition of HP:0009662 (Abnormality of the epiphysis of the distal phalanx of the thumb)\n", + " \n", + " \n", + " Abnormality of the epiphysis of the distal phalanx of the thumb. This epiphysis is located on the proximal end of the phalanx.\n", + " definition of HP:0009662 (Abnormality of the epiphysis of the distal phalanx of the thumb)\n", + " \n", + " \n", + " #Abnormality of terminal thumb epiphysis #Abnormality of the end part of the outermost bone of the thumb\n", + " definition of HP:0009662 (Abnormality of the epiphysis of the distal phalanx of the thumb)\n", + " \n", + " \n", + " Duplicated tragus\n", + " definition of HP:0011270 (Duplicated tragus)\n", + " \n", + " \n", + " A complete or partial duplication of the tragus; expected to lie anterior to the normal tragus.\n", + " definition of HP:0011270 (Duplicated tragus)\n", + " \n", + " \n", + " #Accessory tragus #Tragus, duplicated\n", + " definition of HP:0011270 (Duplicated tragus)\n", + " \n", + " \n", + " Abnormal meiosis\n", + " definition of HP:0031515 (Abnormal meiosis)\n", + " \n", + " \n", + " Any anomaly of meiosis, a type of cell division that reduces the number of chromosomes in the parent cell by half and produces four gamete cells.\n", + " definition of HP:0031515 (Abnormal meiosis)\n", + " \n", + " \n", + " Abnormal anterior eye segment morphology\n", + " definition of HP:0004328 (Abnormal anterior eye segment morphology)\n", + " \n", + " \n", + " An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humor: the cornea, iris, ciliary body, and lens).\n", + " definition of HP:0004328 (Abnormal anterior eye segment morphology)\n", + " \n", + " \n", + " #Abnormal anterior segment morphology #Abnormality of the anterior segment of the eye #Abnormality of the anterior segment of the eyeball #Abnormality of the anterior segment of the globe\n", + " definition of HP:0004328 (Abnormal anterior eye segment morphology)\n", + " \n", + " \n", + " Coronary artery fistula\n", + " definition of HP:0011641 (Coronary artery fistula)\n", + " \n", + " \n", + " A congenital malformation with abnormal connection between one of the coronary arteries and a heart chamber or another blood vessel.\n", + " definition of HP:0011641 (Coronary artery fistula)\n", + " \n", + " \n", + " #Coronary fistula\n", + " definition of HP:0011641 (Coronary artery fistula)\n", + " \n", + " \n", + " Flat distal femoral epiphysis\n", + " definition of HP:0006398 (Flat distal femoral epiphysis)\n", + " \n", + " \n", + " An abnormal flattening of the distal epiphysis of femur.\n", + " definition of HP:0006398 (Flat distal femoral epiphysis)\n", + " \n", + " \n", + " #Flat end part of outermost thighbone #Flattened distal femoral epiphyses\n", + " definition of HP:0006398 (Flat distal femoral epiphysis)\n", + " \n", + " \n", + " Muscle fiber splitting\n", + " definition of HP:0003555 (Muscle fiber splitting)\n", + " \n", + " \n", + " Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches.\n", + " definition of HP:0003555 (Muscle fiber splitting)\n", + " \n", + " \n", + " #Fiber splitting #Fibre splitting #Muscle fiber splitting\n", + " definition of HP:0003555 (Muscle fiber splitting)\n", + " \n", + " \n", + " EEG with occipital focal spikes\n", + " definition of HP:0012016 (EEG with occipital focal spikes)\n", + " \n", + " \n", + " EEG with focal sharp transient waves of a duration less than 80 msec in the occipital region.\n", + " definition of HP:0012016 (EEG with occipital focal spikes)\n", + " \n", + " \n", + " Osteolytic defects of the proximal phalanx of the 5th toe\n", + " definition of HP:0100457 (Osteolytic defects of the proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " Irregular epiphyses of the 2nd toe\n", + " definition of HP:0100049 (Irregular epiphyses of the 2nd toe)\n", + " \n", + " \n", + " #Irregular end part of the 2nd toe bone\n", + " definition of HP:0100049 (Irregular epiphyses of the 2nd toe)\n", + " \n", + " \n", + " Decreased serum anion gap\n", + " definition of HP:0031963 (Decreased serum anion gap)\n", + " \n", + " \n", + " An abnormally low value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration).\n", + " definition of HP:0031963 (Decreased serum anion gap)\n", + " \n", + " \n", + " Muscle weakness\n", + " definition of HP:0001324 (Muscle weakness)\n", + " \n", + " \n", + " Reduced strength of muscles.\n", + " definition of HP:0001324 (Muscle weakness)\n", + " \n", + " \n", + " #Muscle weakness #Muscular weakness\n", + " definition of HP:0001324 (Muscle weakness)\n", + " \n", + " \n", + " Syntelencephaly\n", + " definition of HP:0025670 (Syntelencephaly)\n", + " \n", + " \n", + " Syntelencephaly is a rare malformation that consists of an abnormal midline connection of the cerebral hemispheres in the posterior frontal and parietal regions, with interhemispheric separation of the basal forebrain, anterior frontal lobes, and occipital regions.\n", + " definition of HP:0025670 (Syntelencephaly)\n", + " \n", + " \n", + " Complete tracheal ring\n", + " definition of HP:0041094 (Complete tracheal ring)\n", + " \n", + " \n", + " Continuous or nearly continuous configuration of the cartilaginous tracheal ring.\n", + " definition of HP:0041094 (Complete tracheal ring)\n", + " \n", + " \n", + " #Complete tracheal ring deformity #Complete tracheal rings #CTRD\n", + " definition of HP:0041094 (Complete tracheal ring)\n", + " \n", + " \n", + " Aggravated by activity\n", + " definition of HP:0025286 (Aggravated by activity)\n", + " \n", + " \n", + " Applied to a sign or symptom that is aggravated by activity, exertion, or exercise.\n", + " definition of HP:0025286 (Aggravated by activity)\n", + " \n", + " \n", + " #Aggravated by exercise #Aggravated by exertion #Worse with activity #Worsened by activity\n", + " definition of HP:0025286 (Aggravated by activity)\n", + " \n", + " \n", + " Abnormal circulating homocysteine concentration\n", + " definition of HP:0010919 (Abnormal circulating homocysteine concentration)\n", + " \n", + " \n", + " An abnormality of a homocysteine metabolic process.\n", + " definition of HP:0010919 (Abnormal circulating homocysteine concentration)\n", + " \n", + " \n", + " Hypertelorism\n", + " definition of HP:0000316 (Hypertelorism)\n", + " \n", + " \n", + " Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).\n", + " definition of HP:0000316 (Hypertelorism)\n", + " \n", + " \n", + " #Excessive orbital separation #Increased distance between eye sockets #Increased distance between eyes #Increased interpupillary distance #Ocular hypertelorism #Wide-set eyes #Widely spaced eyes #Widened interpupillary distance\n", + " definition of HP:0000316 (Hypertelorism)\n", + " \n", + " \n", + " Failure to offer information to initiate social interaction\n", + " definition of HP:5200113 (Failure to offer information to initiate social interaction)\n", + " \n", + " \n", + " An atypically low tendency to offer information as a means to initiate or sustain social interactions or direct another's attention.\n", + " definition of HP:5200113 (Failure to offer information to initiate social interaction)\n", + " \n", + " \n", + " Priapism\n", + " definition of HP:0200023 (Priapism)\n", + " \n", + " \n", + " A painful and harmful medical condition in which the erect penis doesn't return to its flaccid state, despite the absence of both physical and psychological stimulation, within four hours.\n", + " definition of HP:0200023 (Priapism)\n", + " \n", + " \n", + " #hulseyism\n", + " definition of HP:0200023 (Priapism)\n", + " \n", + " \n", + " Facial asymmetry\n", + " definition of HP:0000324 (Facial asymmetry)\n", + " \n", + " \n", + " An abnormal difference between the left and right sides of the face.\n", + " definition of HP:0000324 (Facial asymmetry)\n", + " \n", + " \n", + " #Asymmetric facies #Asymmetry of face #Asymmetry of right and left side of face #Crooked face #Facial asymmetry #Unsymmetrical face\n", + " definition of HP:0000324 (Facial asymmetry)\n", + " \n", + " \n", + " Hyporeflexia of lower limbs\n", + " definition of HP:0002600 (Hyporeflexia of lower limbs)\n", + " \n", + " \n", + " Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping.\n", + " definition of HP:0002600 (Hyporeflexia of lower limbs)\n", + " \n", + " \n", + " #Hyporeflexia in lower limbs #Hyporeflexia of the lower limbs #Hyporeflexia, lower limbs #Hyporeflexia/areflexia in lower limbs\n", + " definition of HP:0002600 (Hyporeflexia of lower limbs)\n", + " \n", + " \n", + " Isomerism\n", + " definition of HP:0031853 (Isomerism)\n", + " \n", + " \n", + " Isomerism in the context of the congenitally malformed heart is defined as a situation where some paired structures on opposite sides of the left-right axis of the body are, in morphologic terms, symmetrical mirror images of each other.\n", + " definition of HP:0031853 (Isomerism)\n", + " \n", + " \n", + " Stippling of the epiphysis of the 1st metatarsal\n", + " definition of HP:0010158 (Stippling of the epiphysis of the 1st metatarsal)\n", + " \n", + " \n", + " #Speckled calcifications in the end part of the 1st long bone of foot\n", + " definition of HP:0010158 (Stippling of the epiphysis of the 1st metatarsal)\n", + " \n", + " \n", + " Decreased delta-aminolevulinate dehydratase activity\n", + " definition of HP:0034544 (Decreased delta-aminolevulinate dehydratase activity)\n", + " \n", + " \n", + " Reduced activity of the enzyme delta-aminolevulinate dehydratase. The enzyme is active in erythrocytes.\n", + " definition of HP:0034544 (Decreased delta-aminolevulinate dehydratase activity)\n", + " \n", + " \n", + " #Delta-aminolevulinate dehydratase activity low #Delta-aminolevulinate dehydratase deficiency\n", + " definition of HP:0034544 (Decreased delta-aminolevulinate dehydratase activity)\n", + " \n", + " \n", + " Glomerular hyalinosis away from the vascular and tubular poles\n", + " definition of HP:0033219 (Glomerular hyalinosis away from the vascular and tubular poles)\n", + " \n", + " \n", + " Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at neither tip nor perihilar/vascular poles. Both the vascular and the tubular pole are present in the glomerular cross section.\n", + " definition of HP:0033219 (Glomerular hyalinosis away from the vascular and tubular poles)\n", + " \n", + " \n", + " Retinal pigment epithelial mottling\n", + " definition of HP:0007814 (Retinal pigment epithelial mottling)\n", + " \n", + " \n", + " Mottling (spots or blotches with different shades) of the retinal pigment epithelium, i.e., localized or generalized fundal pigment granularity associated with processes at the level of the retinal pigment epithelium.\n", + " definition of HP:0007814 (Retinal pigment epithelial mottling)\n", + " \n", + " \n", + " #Focal hypopigmentation of the retinal pigment epithelium #Retinal pigment epithelium irregularity #RPE irregularity #RPE mottling #Salt and pepper retinal pigmentation #Salt and pepper retinopathy\n", + " definition of HP:0007814 (Retinal pigment epithelial mottling)\n", + " \n", + " \n", + " Spastic hemiparesis\n", + " definition of HP:0011099 (Spastic hemiparesis)\n", + " \n", + " \n", + " Unilateral paresis (weakness) with spasticity of the affected muscles and increased tendon reflexes.\n", + " definition of HP:0011099 (Spastic hemiparesis)\n", + " \n", + " \n", + " #Spastic hemiplegia\n", + " definition of HP:0011099 (Spastic hemiparesis)\n", + " \n", + " \n", + " Anti-isoleucyl tRNA-synthetase antibody positivity\n", + " definition of HP:0034148 (Anti-isoleucyl tRNA-synthetase antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against isoleucyl tRNA-synthetase.\n", + " definition of HP:0034148 (Anti-isoleucyl tRNA-synthetase antibody positivity)\n", + " \n", + " \n", + " #Anti-OJ antibody positivity\n", + " definition of HP:0034148 (Anti-isoleucyl tRNA-synthetase antibody positivity)\n", + " \n", + " \n", + " Limited elbow flexion\n", + " definition of HP:0006376 (Limited elbow flexion)\n", + " \n", + " \n", + " Oocyte maturation arrest\n", + " definition of HP:0034914 (Oocyte maturation arrest)\n", + " \n", + " \n", + " Oocyte maturation arrest (OMA) can manifest as failed in vitro fetilization/intracytoplasmic sperm injection (IVF/ICSI) attempts using affected oocytes.\n", + " definition of HP:0034914 (Oocyte maturation arrest)\n", + " \n", + " \n", + " Pursed lips\n", + " definition of HP:0000205 (Pursed lips)\n", + " \n", + " \n", + " An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance.\n", + " definition of HP:0000205 (Pursed lips)\n", + " \n", + " \n", + " #Pursed lips #Tightly closed lips\n", + " definition of HP:0000205 (Pursed lips)\n", + " \n", + " \n", + " Increased level of L-fucose in urine\n", + " definition of HP:0410067 (Increased level of L-fucose in urine)\n", + " \n", + " \n", + " An increase in the level of L-fucose in the urine.\n", + " definition of HP:0410067 (Increased level of L-fucose in urine)\n", + " \n", + " \n", + " 10-minute APGAR score of 2\n", + " definition of HP:0033470 (10-minute APGAR score of 2)\n", + " \n", + " \n", + " Stage 3 chronic kidney disease\n", + " definition of HP:0012625 (Stage 3 chronic kidney disease)\n", + " \n", + " \n", + " A type of chronic kidney disease with moderately reduced glomerular filtration rate (GFR 30-59 mL/min/1.73 m2).\n", + " definition of HP:0012625 (Stage 3 chronic kidney disease)\n", + " \n", + " \n", + " Decreased circulating calcitonin concentration\n", + " definition of HP:0034903 (Decreased circulating calcitonin concentration)\n", + " \n", + " \n", + " Concentration of calcitonin, a 32-amino acid polypeptide hormone that is produced primarily by the parafollicular cells of the thyroid, in the blood circulation below the lower limit of normal.\n", + " definition of HP:0034903 (Decreased circulating calcitonin concentration)\n", + " \n", + " \n", + " #Calcitonin low in blood\n", + " definition of HP:0034903 (Decreased circulating calcitonin concentration)\n", + " \n", + " \n", + " Aortic valve prolapse\n", + " definition of HP:0025578 (Aortic valve prolapse)\n", + " \n", + " \n", + " Aortic valve prolapse can be diagnosed when either or both of the right or non-coronary aortic valve cusps (seen in the cross sectional echocardiographic long axis view) show backward bowing towards the left ventricle beyond a line joining the points of attachment of the aortic valve leaflets to the annulus.\n", + " definition of HP:0025578 (Aortic valve prolapse)\n", + " \n", + " \n", + " Generalized anhidrosis\n", + " definition of HP:0007459 (Generalized anhidrosis)\n", + " \n", + " \n", + " #Generalised anhidrosis #Generalised anhydrosis #Generalised inability to sweat #Generalized anhydrosis #Generalized inability to sweat\n", + " definition of HP:0007459 (Generalized anhidrosis)\n", + " \n", + " \n", + " Internal carotid artery hypoplasia\n", + " definition of HP:0005290 (Internal carotid artery hypoplasia)\n", + " \n", + " \n", + " #Decreased size of internal carotid artery #Small internal carotid artery\n", + " definition of HP:0005290 (Internal carotid artery hypoplasia)\n", + " \n", + " \n", + " Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metacarpal\n", + " definition of HP:0009483 (Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metacarpal)\n", + " \n", + " \n", + " Fusion of the proximal phalanx of the 3rd finger with the 3rd metacarpal.\n", + " definition of HP:0009483 (Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metacarpal)\n", + " \n", + " \n", + " #Fused innermost bones of middle finger with middle long bone of hand\n", + " definition of HP:0009483 (Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metacarpal)\n", + " \n", + " \n", + " Dislocated wrist\n", + " definition of HP:0003994 (Dislocated wrist)\n", + " \n", + " \n", + " An injury of the wrist with displacement of any of the eight carpal bones.\n", + " definition of HP:0003994 (Dislocated wrist)\n", + " \n", + " \n", + " #Dislocated wrist #Dislocations of the wrists\n", + " definition of HP:0003994 (Dislocated wrist)\n", + " \n", + " \n", + " Abnormal Sharpey fiber morphology\n", + " definition of HP:0100685 (Abnormal Sharpey fiber morphology)\n", + " \n", + " \n", + " An abnormality of Sharpey's fibers (bone fibers, or perforating fibers), which are a matrix of connective tissue consisting of bundles of strong collagenous fibers connecting periosteum to bone.\n", + " definition of HP:0100685 (Abnormal Sharpey fiber morphology)\n", + " \n", + " \n", + " #Abnormal Sharpey fibre morphology #Abnormality of Sharpey fibers #Abnormality of Sharpey fibres\n", + " definition of HP:0100685 (Abnormal Sharpey fiber morphology)\n", + " \n", + " \n", + " Optic nerve dysplasia\n", + " definition of HP:0001093 (Optic nerve dysplasia)\n", + " \n", + " \n", + " The presence of developmental dysplasia of the optic nerve.\n", + " definition of HP:0001093 (Optic nerve dysplasia)\n", + " \n", + " \n", + " Linear IgG deposits along the epidermal basement membrane zone\n", + " definition of HP:0031540 (Linear IgG deposits along the epidermal basement membrane zone)\n", + " \n", + " \n", + " Presence of IgG antibodies in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy.\n", + " definition of HP:0031540 (Linear IgG deposits along the epidermal basement membrane zone)\n", + " \n", + " \n", + " Morbus Scheuermann\n", + " definition of HP:0010891 (Morbus Scheuermann)\n", + " \n", + " \n", + " A developmental growth retardation of the vertebral end plates that may lead to secondary destruction of the vertebral end plates and protrusion of the nucleus pulposus into the vertebral body (so called Schmorl's nodes as seen on x-rays).\n", + " definition of HP:0010891 (Morbus Scheuermann)\n", + " \n", + " \n", + " #Calve disease #Juvenile osteochondrosis of the spine #Scheuermann disease #Scheuermann kyphosis #Sherman's Disease\n", + " definition of HP:0010891 (Morbus Scheuermann)\n", + " \n", + " \n", + " Abnormal proportion of naive B cells\n", + " definition of HP:0030370 (Abnormal proportion of naive B cells)\n", + " \n", + " \n", + " A deviation in the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to the total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen.\n", + " definition of HP:0030370 (Abnormal proportion of naive B cells)\n", + " \n", + " \n", + " Crumpled ear\n", + " definition of HP:0009901 (Crumpled ear)\n", + " \n", + " \n", + " Distortion of the course of the normal folds of the ear and the appearance of supernumerary crura and folds.\n", + " definition of HP:0009901 (Crumpled ear)\n", + " \n", + " \n", + " #Crumpled ear\n", + " definition of HP:0009901 (Crumpled ear)\n", + " \n", + " \n", + " Corneal arcus\n", + " definition of HP:0001084 (Corneal arcus)\n", + " \n", + " \n", + " A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years.\n", + " definition of HP:0001084 (Corneal arcus)\n", + " \n", + " \n", + " #Anterior embryotoxon #Arcus lipoidis #Arcus senilis #Corneal annulus #Gerontoxon\n", + " definition of HP:0001084 (Corneal arcus)\n", + " \n", + " \n", + " Ankyloblepharon\n", + " definition of HP:0009755 (Ankyloblepharon)\n", + " \n", + " \n", + " Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue.\n", + " definition of HP:0009755 (Ankyloblepharon)\n", + " \n", + " \n", + " #Adhesion of eyelids #Ankyloblepharon filiforme adnatum #Eyelid synechiae #Eyelids stuck together #Fused eyelid\n", + " definition of HP:0009755 (Ankyloblepharon)\n", + " \n", + " \n", + " Exposure to cosmetic fragrances\n", + " definition of HP:6000636 (Exposure to cosmetic fragrances)\n", + " \n", + " \n", + " A history of exposure to fragrances found in cosmetic products.\n", + " definition of HP:6000636 (Exposure to cosmetic fragrances)\n", + " \n", + " \n", + " Episodic paroxysmal anxiety\n", + " definition of HP:0000740 (Episodic paroxysmal anxiety)\n", + " \n", + " \n", + " Recurrent attacks of severe anxiety, which occur without restriction to any particular situation or set of circumstances, are therefore unpredictable.\n", + " definition of HP:0000740 (Episodic paroxysmal anxiety)\n", + " \n", + " \n", + " Myoclonic status epilepticus\n", + " definition of HP:0032667 (Myoclonic status epilepticus)\n", + " \n", + " \n", + " A type of motor status epilepticus with repeating bilateral sudden brief (less than 100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography.\n", + " definition of HP:0032667 (Myoclonic status epilepticus)\n", + " \n", + " \n", + " Elevated circulating hexanoylcarnitine concentration\n", + " definition of HP:0033441 (Elevated circulating hexanoylcarnitine concentration)\n", + " \n", + " \n", + " Concentration of hexanoylcarnitine in the blood circulation above the upper limit of normal.\n", + " definition of HP:0033441 (Elevated circulating hexanoylcarnitine concentration)\n", + " \n", + " \n", + " #Elevated circulating C6:0 acylcarnitine concentration #Elevated circulating O-hexanoylcarnitine concentration #Elevated plasma hexanoylcarnitine, C6:0\n", + " definition of HP:0033441 (Elevated circulating hexanoylcarnitine concentration)\n", + " \n", + " \n", + " Saccular aortic arch aneurysm\n", + " definition of HP:0031647 (Saccular aortic arch aneurysm)\n", + " \n", + " \n", + " An eccentric abnormal localized widening (dilatation) of the aortic arch that involves only a portion of the circumference of the vessel wall.\n", + " definition of HP:0031647 (Saccular aortic arch aneurysm)\n", + " \n", + " \n", + " Opsoclonus\n", + " definition of HP:0010543 (Opsoclonus)\n", + " \n", + " \n", + " Bursts of large-amplitude multidirectional saccades without intersaccadic interval\n", + " definition of HP:0010543 (Opsoclonus)\n", + " \n", + " \n", + " Decreased circulating IgD concentration\n", + " definition of HP:0410245 (Decreased circulating IgD concentration)\n", + " \n", + " \n", + " An abnormally decreased level of immunoglobulin D (IgD) in blood.\n", + " definition of HP:0410245 (Decreased circulating IgD concentration)\n", + " \n", + " \n", + " #Decreased circulating IgD #Decreased IgD #Decreased IgD in blood #IgD deficiency\n", + " definition of HP:0410245 (Decreased circulating IgD concentration)\n", + " \n", + " \n", + " Increased theta frequency activity in EEG\n", + " definition of HP:0031535 (Increased theta frequency activity in EEG)\n", + " \n", + " \n", + " Increased frequency of theta wave activity in the electroencephalogram. Theta waves have a frequency of 3.5-7.5 Hertz, and are present in very small amounts in healthy waking adult EEGs. Theta activity is normal in small very amounts in the healthy waking adult EEG in a symmetrical distribution.\n", + " definition of HP:0031535 (Increased theta frequency activity in EEG)\n", + " \n", + " \n", + " Cervical segmentation defect\n", + " definition of HP:0004632 (Cervical segmentation defect)\n", + " \n", + " \n", + " An abnormality related to a defect of vertebral separation of cervical vertebrae during development.\n", + " definition of HP:0004632 (Cervical segmentation defect)\n", + " \n", + " \n", + " #Cervical spine segmentation defect\n", + " definition of HP:0004632 (Cervical segmentation defect)\n", + " \n", + " \n", + " Abnormal macular morphology\n", + " definition of HP:0001103 (Abnormal macular morphology)\n", + " \n", + " \n", + " A structural abnormality of the macula lutea, which is an oval-shaped highly pigmented yellow spot near the center of the retina.\n", + " definition of HP:0001103 (Abnormal macular morphology)\n", + " \n", + " \n", + " #Abnormality of the macula #Macula abnormality #Macular abnormality\n", + " definition of HP:0001103 (Abnormal macular morphology)\n", + " \n", + " \n", + " Vertical eyelid laxity\n", + " definition of HP:0032033 (Vertical eyelid laxity)\n", + " \n", + " \n", + " Abnormally lax eyelid associated with tissue relaxation, predominantly in the vertical plane. It can be demonstrated by vertical lid pull. Loosening of vertical stabilizing structures (e.g. lower lid retractors) or tarsal atrophy are often present.\n", + " definition of HP:0032033 (Vertical eyelid laxity)\n", + " \n", + " \n", + " Intralobular septal thickening\n", + " definition of HP:0033638 (Intralobular septal thickening)\n", + " \n", + " \n", + " Intralobular septal thickening is a computed tomography finding of increased width of the walls (septa) within a pulmonary lobule. Secondary pulmonary lobules represent a cluster of up to 30 acini 9 supplied by a common distal pulmonary artery and bronchiole. These clustered acini are bounded by interstitial fibrous septa (interlobular septa) which outline an irregular polyhedron of varying size between 1 and 2.5 cm. Interlobular septal thickening is seen on chest radiographs as thin linear opacities at right angles to and in contact with the lateral pleural surfaces near the lung bases. In contrast, intralobular septal thickening are visible as fine linear opacities in a lobule when the intralobular interstitial tissue is abnormally thickened. When numerous, they may appear as a fine reticular pattern.\n", + " definition of HP:0033638 (Intralobular septal thickening)\n", + " \n", + " \n", + " #Intralobular lines\n", + " definition of HP:0033638 (Intralobular septal thickening)\n", + " \n", + " \n", + " Elevated urine hyaluronic acid level\n", + " definition of HP:6000391 (Elevated urine hyaluronic acid level)\n", + " \n", + " \n", + " Excessive amount of hyaluronic acid in urine.\n", + " definition of HP:6000391 (Elevated urine hyaluronic acid level)\n", + " \n", + " \n", + " #Hyaluronic acid high in urine\n", + " definition of HP:6000391 (Elevated urine hyaluronic acid level)\n", + " \n", + " \n", + " Multinucleated visceral epithelial cells\n", + " definition of HP:0033297 (Multinucleated visceral epithelial cells)\n", + " \n", + " \n", + " Visceral epithelial cells with more than two nuclei. Can be observed on light or ultrastructral microscopy.\n", + " definition of HP:0033297 (Multinucleated visceral epithelial cells)\n", + " \n", + " \n", + " #Multinucleated podocytes #Podocyte multinucleation\n", + " definition of HP:0033297 (Multinucleated visceral epithelial cells)\n", + " \n", + " \n", + " Positive Dengue virus PCR test in the blood circulation\n", + " definition of HP:6000551 (Positive Dengue virus PCR test in the blood circulation)\n", + " \n", + " \n", + " Detection of nucleic acid of the Dengue virus in the blood circulation by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR.\n", + " definition of HP:6000551 (Positive Dengue virus PCR test in the blood circulation)\n", + " \n", + " \n", + " Difficulty recognizing another's emotions\n", + " definition of HP:5200118 (Difficulty recognizing another's emotions)\n", + " \n", + " \n", + " A difficulty in being able to understand the emotions of other people. This can range from recognizing emotions from facial expressions to an inability to empathize with others when they describe their feelings\n", + " definition of HP:5200118 (Difficulty recognizing another's emotions)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the vertebrae\n", + " definition of HP:0008515 (Aplasia/Hypoplasia of the vertebrae)\n", + " \n", + " \n", + " #Absent/small vertebrae #Absent/underdeveloped vertebrae\n", + " definition of HP:0008515 (Aplasia/Hypoplasia of the vertebrae)\n", + " \n", + " \n", + " Abnormal circulating collagen degradation product concentration\n", + " definition of HP:0033386 (Abnormal circulating collagen degradation product concentration)\n", + " \n", + " \n", + " Abnormal concentration in the blood circulation of a metabolite that results from collagen degradation, e.g., a fragment of a collagen produced by a collagenase or serine protease.\n", + " definition of HP:0033386 (Abnormal circulating collagen degradation product concentration)\n", + " \n", + " \n", + " Bronchial isomerism\n", + " definition of HP:0031564 (Bronchial isomerism)\n", + " \n", + " \n", + " An anomalous mirror-imaged arrangement of some bronchial structures. Right isomerism is defined as a subset of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal right-sided structures (vice versa for left isomerism).\n", + " definition of HP:0031564 (Bronchial isomerism)\n", + " \n", + " \n", + " Distal tapering of metatarsals\n", + " definition of HP:0008133 (Distal tapering of metatarsals)\n", + " \n", + " \n", + " Abnormal sternum morphology\n", + " definition of HP:0000766 (Abnormal sternum morphology)\n", + " \n", + " \n", + " An anomaly of the sternum, also known as the breastbone.\n", + " definition of HP:0000766 (Abnormal sternum morphology)\n", + " \n", + " \n", + " #Abnormality of the sternum #Pectus carinatum or pectus excavatum #Pectus deformities #Pectus deformity #Pectus excavatum or carinatum #Pectus excavatum or pectus carinatum #Pectus excavatum/carinatum #Sternal anomalies\n", + " definition of HP:0000766 (Abnormal sternum morphology)\n", + " \n", + " \n", + " Best corrected visual acuity 0.9 LogMAR\n", + " definition of HP:0030562 (Best corrected visual acuity 0.9 LogMAR)\n", + " \n", + " \n", + " Pancreatic dysplasia\n", + " definition of HP:0005232 (Pancreatic dysplasia)\n", + " \n", + " \n", + " The presence of developmental dysplasia of the pancreas.\n", + " definition of HP:0005232 (Pancreatic dysplasia)\n", + " \n", + " \n", + " EMG: impaired neuromuscular transmission\n", + " definition of HP:0100285 (EMG: impaired neuromuscular transmission)\n", + " \n", + " \n", + " An electromyographic finding associated with erratic or absent neuromuscular transmission with erratic, moment-to-moment changes in the shape of the motor unit potential (MUP).\n", + " definition of HP:0100285 (EMG: impaired neuromuscular transmission)\n", + " \n", + " \n", + " Best corrected visual acuity 2.0 LogMAR\n", + " definition of HP:0030567 (Best corrected visual acuity 2.0 LogMAR)\n", + " \n", + " \n", + " Hyperconvex thumb nails\n", + " definition of HP:0008407 (Hyperconvex thumb nails)\n", + " \n", + " \n", + " #Tightly curved thumb nail\n", + " definition of HP:0008407 (Hyperconvex thumb nails)\n", + " \n", + " \n", + " Ulnar radial head dislocation\n", + " definition of HP:0005856 (Ulnar radial head dislocation)\n", + " \n", + " \n", + " A dislocation of the head of the radius from its socket in the elbow joint in an ulnar direction.\n", + " definition of HP:0005856 (Ulnar radial head dislocation)\n", + " \n", + " \n", + " #Ulnar dislocation of radial heads\n", + " definition of HP:0005856 (Ulnar radial head dislocation)\n", + " \n", + " \n", + " Weight loss\n", + " definition of HP:0001824 (Weight loss)\n", + " \n", + " \n", + " Reduction of total body weight.\n", + " definition of HP:0001824 (Weight loss)\n", + " \n", + " \n", + " #Loss of weight\n", + " definition of HP:0001824 (Weight loss)\n", + " \n", + " \n", + " Large basal ganglia\n", + " definition of HP:0007048 (Large basal ganglia)\n", + " \n", + " \n", + " Increased size of the basal ganglia.\n", + " definition of HP:0007048 (Large basal ganglia)\n", + " \n", + " \n", + " Reduced lymph node lymphocyte morphological variability\n", + " definition of HP:0020275 (Reduced lymph node lymphocyte morphological variability)\n", + " \n", + " \n", + " Decreased morphological variability of lymph node lymphocytes as compared to the typically somewhat heterogeneous morphology of populations of benign lymph node lymphocytes.\n", + " definition of HP:0020275 (Reduced lymph node lymphocyte morphological variability)\n", + " \n", + " \n", + " #Monomorphic cells\n", + " definition of HP:0020275 (Reduced lymph node lymphocyte morphological variability)\n", + " \n", + " \n", + " Absence of peroxisomes\n", + " definition of HP:0034553 (Absence of peroxisomes)\n", + " \n", + " \n", + " Lack of observable peroxisomes. This feature can be observed by immunohistochemical staining of cultured cells (such as fibroblasts) or by electronmicroscopy.\n", + " definition of HP:0034553 (Absence of peroxisomes)\n", + " \n", + " \n", + " Asymmetric blood pressure between arms\n", + " definition of HP:6000945 (Asymmetric blood pressure between arms)\n", + " \n", + " \n", + " A substantial difference in blood pressure (e.g., 20 mmHg) between the right and left arms.\n", + " definition of HP:6000945 (Asymmetric blood pressure between arms)\n", + " \n", + " \n", + " Abnormal circulating enzyme concentration or activity\n", + " definition of HP:0012379 (Abnormal circulating enzyme concentration or activity)\n", + " \n", + " \n", + " Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation.\n", + " definition of HP:0012379 (Abnormal circulating enzyme concentration or activity)\n", + " \n", + " \n", + " Choroidal melanoma\n", + " definition of HP:0012054 (Choroidal melanoma)\n", + " \n", + " \n", + " Malignant tumor of melanocytes of the choroid. The classic appearance of choroidal melanoma is a pigmented dome-shaped or collar button-shaped tumor with an associated exudative retinal detachment. Choroidal melanoma is usually pigmented, but can be variably pigmented and even amelanotic (non-pigmented).\n", + " definition of HP:0012054 (Choroidal melanoma)\n", + " \n", + " \n", + " Aortic arch aneurysm\n", + " definition of HP:0005113 (Aortic arch aneurysm)\n", + " \n", + " \n", + " An abnormal localized widening (dilatation) of the aortic arch.\n", + " definition of HP:0005113 (Aortic arch aneurysm)\n", + " \n", + " \n", + " Bracket epiphyses of the phalanges of the hand\n", + " definition of HP:0010229 (Bracket epiphyses of the phalanges of the hand)\n", + " \n", + " \n", + " Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.\n", + " definition of HP:0010229 (Bracket epiphyses of the phalanges of the hand)\n", + " \n", + " \n", + " #Bracket epiphyses of the fingers #Bracket shaped end part of finger bones\n", + " definition of HP:0010229 (Bracket epiphyses of the phalanges of the hand)\n", + " \n", + " \n", + " Decreased CD69 upregulation upon TCR activation\n", + " definition of HP:0031268 (Decreased CD69 upregulation upon TCR activation)\n", + " \n", + " \n", + " Reduced or impaired upregulation of CD69 on T cells after activation via the T cell receptor (TCR).\n", + " definition of HP:0031268 (Decreased CD69 upregulation upon TCR activation)\n", + " \n", + " \n", + " Longitudinal vaginal septum\n", + " definition of HP:0008740 (Longitudinal vaginal septum)\n", + " \n", + " \n", + " The presence of a longitudinal vaginal septum, thereby creating a vaginal duplication.\n", + " definition of HP:0008740 (Longitudinal vaginal septum)\n", + " \n", + " \n", + " #Vertical vaginal septum\n", + " definition of HP:0008740 (Longitudinal vaginal septum)\n", + " \n", + " \n", + " Transient decreased circulating IgE concentration\n", + " definition of HP:0033021 (Transient decreased circulating IgE concentration)\n", + " \n", + " \n", + " A temporary reduction beneath the normal level of total immunoglobulin E (IgE) in the blood.\n", + " definition of HP:0033021 (Transient decreased circulating IgE concentration)\n", + " \n", + " \n", + " #Transient decreased circulating IgE #Transient decreased IgE in blood\n", + " definition of HP:0033021 (Transient decreased circulating IgE concentration)\n", + " \n", + " \n", + " Abnormality of the trapezoid bone\n", + " definition of HP:0004256 (Abnormality of the trapezoid bone)\n", + " \n", + " \n", + " Stiff hip\n", + " definition of HP:0025262 (Stiff hip)\n", + " \n", + " \n", + " A sensation of tightness in the hip joint when attempting to move it, especially after a period of inactivity.\n", + " definition of HP:0025262 (Stiff hip)\n", + " \n", + " \n", + " #Hip stiffness #Stiff hip\n", + " definition of HP:0025262 (Stiff hip)\n", + " \n", + " \n", + " Anteverted ears\n", + " definition of HP:0040080 (Anteverted ears)\n", + " \n", + " \n", + " Plaque-like facial hemangioma\n", + " definition of HP:0007434 (Plaque-like facial hemangioma)\n", + " \n", + " \n", + " Hemangioma is a benign tumor of the vascular endothelial cells. This term refers to facial hemangiomas that have a plaque-like morphology.\n", + " definition of HP:0007434 (Plaque-like facial hemangioma)\n", + " \n", + " \n", + " #Hemangioma, facial, plaque-like\n", + " definition of HP:0007434 (Plaque-like facial hemangioma)\n", + " \n", + " \n", + " Bone marrow cystine accumulation\n", + " definition of HP:6001033 (Bone marrow cystine accumulation)\n", + " \n", + " \n", + " The presence of cystine crystals in bone marrow cells as demonstrated in a fresh bone marrow aspiration sample.\n", + " definition of HP:6001033 (Bone marrow cystine accumulation)\n", + " \n", + " \n", + " Prolonged miniature endplate currents\n", + " definition of HP:0003436 (Prolonged miniature endplate currents)\n", + " \n", + " \n", + " An abnormal prolongation of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction.\n", + " definition of HP:0003436 (Prolonged miniature endplate currents)\n", + " \n", + " \n", + " #Prolonged MEPC #Prolonged MEPP #Prolonged miniature endplate potentials\n", + " definition of HP:0003436 (Prolonged miniature endplate currents)\n", + " \n", + " \n", + " Iliac arterial calcification\n", + " definition of HP:0031304 (Iliac arterial calcification)\n", + " \n", + " \n", + " An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the iliac artery.\n", + " definition of HP:0031304 (Iliac arterial calcification)\n", + " \n", + " \n", + " Calcinosis cutis\n", + " definition of HP:0025520 (Calcinosis cutis)\n", + " \n", + " \n", + " Deposition of calcium in the skin.\n", + " definition of HP:0025520 (Calcinosis cutis)\n", + " \n", + " \n", + " #Cutaneous calcification\n", + " definition of HP:0025520 (Calcinosis cutis)\n", + " \n", + " \n", + " Fetal metronidazole exposure\n", + " definition of HP:0034851 (Fetal metronidazole exposure)\n", + " \n", + " \n", + " A history of exposure during pregnancy of the mother of a fetus or child to metronidazole.\n", + " definition of HP:0034851 (Fetal metronidazole exposure)\n", + " \n", + " \n", + " #Maternal metronidazole exposure #Metronidazole exposure during gestation\n", + " definition of HP:0034851 (Fetal metronidazole exposure)\n", + " \n", + " \n", + " Abnormal soft palate morphology\n", + " definition of HP:0100736 (Abnormal soft palate morphology)\n", + " \n", + " \n", + " An abnormality of the soft palate.\n", + " definition of HP:0100736 (Abnormal soft palate morphology)\n", + " \n", + " \n", + " #Abnormality of the muscular palate #Abnormality of the soft palate #Abnormality of the velum #Abnormality of the velum palatinum\n", + " definition of HP:0100736 (Abnormal soft palate morphology)\n", + " \n", + " \n", + " Abnormal spleen physiology\n", + " definition of HP:0025409 (Abnormal spleen physiology)\n", + " \n", + " \n", + " Any anomaly of the function of the spleen.\n", + " definition of HP:0025409 (Abnormal spleen physiology)\n", + " \n", + " \n", + " Photosensitive tonic-clonic seizure\n", + " definition of HP:0007207 (Photosensitive tonic-clonic seizure)\n", + " \n", + " \n", + " Generalized-onset tonic-clonic seizures that are provoked by flashing or flickering light.\n", + " definition of HP:0007207 (Photosensitive tonic-clonic seizure)\n", + " \n", + " \n", + " #Photically induced tonic-clonic seizure #Photosensitive tonic-clonic seizures #Seizures, tonic-clonic, photosensitive\n", + " definition of HP:0007207 (Photosensitive tonic-clonic seizure)\n", + " \n", + " \n", + " Abnormal urine urobilinogen level\n", + " definition of HP:0032472 (Abnormal urine urobilinogen level)\n", + " \n", + " \n", + " An abnormal concentration of urobilinogen in the urine.\n", + " definition of HP:0032472 (Abnormal urine urobilinogen level)\n", + " \n", + " \n", + " Cranium bifidum occultum\n", + " definition of HP:0004423 (Cranium bifidum occultum)\n", + " \n", + " \n", + " Cranium bifidum occultum, also known as Catlin mark, is a congenital midline skull defect presenting as an enlarged posterior fontanelle in the upper posterior angle of the parietal bone close to the intersection of the sagittal and lambdoid sutures. Cranium bifidum occultum occurs due to a defect in intramembranous ossification, a process through which skull bones (frontal, parietal, squamous temporal and occipital bones superior to the mendosal suture) ossify under a vascularized membrane toward the midline to cover the brain. Unlike cranium bifidum cysticum, cranium bifidum occultum does not have herniation of intracranial contents. As the skull grows, the midline cranium bifidum occultum defect is separated into bilateral enlarged parietal foramina (EPF) by a midline osseous bridge.\n", + " definition of HP:0004423 (Cranium bifidum occultum)\n", + " \n", + " \n", + " Increased circulating Interferon-alpha concentration\n", + " definition of HP:0034513 (Increased circulating Interferon-alpha concentration)\n", + " \n", + " \n", + " An elevation in the concentration of interferon alpha measured in the blood circulation.\n", + " definition of HP:0034513 (Increased circulating Interferon-alpha concentration)\n", + " \n", + " \n", + " #Interferon-alpha high in blood\n", + " definition of HP:0034513 (Increased circulating Interferon-alpha concentration)\n", + " \n", + " \n", + " Elevated urine D-lactate level\n", + " definition of HP:6000467 (Elevated urine D-lactate level)\n", + " \n", + " \n", + " The amount of D-lactate in the urine, normalized for urine concentration, is above the upper limit of normal. L-lactate is a familiar molecule to the human body and is also produced in large amounts in human tissues, depending on metabolic conditions. In contrast, D-lactate is produced only in minute quantities in human tissues, and is therefore not detectable in the bloodstream under normal physiological conditions.\n", + " definition of HP:6000467 (Elevated urine D-lactate level)\n", + " \n", + " \n", + " #https://github.com/obophenotype/human-phenotype-ontology/issues/8641\n", + " definition of HP:6000467 (Elevated urine D-lactate level)\n", + " \n", + " \n", + " Microgastria\n", + " definition of HP:0100841 (Microgastria)\n", + " \n", + " \n", + " A developmental anomaly with a small tubular or saccular midline stomach.\n", + " definition of HP:0100841 (Microgastria)\n", + " \n", + " \n", + " Reduced eye contact\n", + " definition of HP:0000817 (Reduced eye contact)\n", + " \n", + " \n", + " A reduced frequency or duration of eye contact.\n", + " definition of HP:0000817 (Reduced eye contact)\n", + " \n", + " \n", + " #Poor eye contact\n", + " definition of HP:0000817 (Reduced eye contact)\n", + " \n", + " \n", + " Macular dots\n", + " definition of HP:0032028 (Macular dots)\n", + " \n", + " \n", + " Yellow, white or grayish lesions in the macula that are well-defined/distinct, individual and mostly uniform in size.\n", + " definition of HP:0032028 (Macular dots)\n", + " \n", + " \n", + " Bruxism\n", + " definition of HP:0003763 (Bruxism)\n", + " \n", + " \n", + " Bruxism is characterized by the grinding of the teeth including the clenching of the jaw and typically occur during sleep, but also can occur while the affected individual is awake.\n", + " definition of HP:0003763 (Bruxism)\n", + " \n", + " \n", + " #Teeth grinding\n", + " definition of HP:0003763 (Bruxism)\n", + " \n", + " \n", + " Motheaten muscle fibers\n", + " definition of HP:0100298 (Motheaten muscle fibers)\n", + " \n", + " \n", + " #Motheaten muscle fibres\n", + " definition of HP:0100298 (Motheaten muscle fibers)\n", + " \n", + " \n", + " Acute hepatic failure\n", + " definition of HP:0006554 (Acute hepatic failure)\n", + " \n", + " \n", + " Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver.\n", + " definition of HP:0006554 (Acute hepatic failure)\n", + " \n", + " \n", + " #Acute liver failure\n", + " definition of HP:0006554 (Acute hepatic failure)\n", + " \n", + " \n", + " Distal clavicular thinning\n", + " definition of HP:0025681 (Distal clavicular thinning)\n", + " \n", + " \n", + " Abnormally reduced diameter (cross section) of the clavicles that is limited to the distal region.\n", + " definition of HP:0025681 (Distal clavicular thinning)\n", + " \n", + " \n", + " Progressive distal muscle weakness\n", + " definition of HP:0009063 (Progressive distal muscle weakness)\n", + " \n", + " \n", + " Progressively reduced strength of the distal musculature.\n", + " definition of HP:0009063 (Progressive distal muscle weakness)\n", + " \n", + " \n", + " #Muscle weakness, distal, progressive #Muscle weakness, progressive, distal\n", + " definition of HP:0009063 (Progressive distal muscle weakness)\n", + " \n", + " \n", + " Eosinophilic infiltration of the esophagus\n", + " definition of HP:0410151 (Eosinophilic infiltration of the esophagus)\n", + " \n", + " \n", + " Infiltration of numerous eosinophils (usually greater than 15 per high power field) into the squamous epithelium of the esophagus, and layering of eosinophils on the surface layer of the esophagus.\n", + " definition of HP:0410151 (Eosinophilic infiltration of the esophagus)\n", + " \n", + " \n", + " #Eosinophilic esophagitis #Eosinophilic infiltration of the esophagus\n", + " definition of HP:0410151 (Eosinophilic infiltration of the esophagus)\n", + " \n", + " \n", + " Focal cortical dysplasia type IIIa\n", + " definition of HP:0032055 (Focal cortical dysplasia type IIIa)\n", + " \n", + " \n", + " A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural organization (cortical dyslamination) or cytoarchitectural composition (hypertrophic neurons outside Layer 5) in patients with hippocampal sclerosis (also known as Ammon's horn sclerosis).\n", + " definition of HP:0032055 (Focal cortical dysplasia type IIIa)\n", + " \n", + " \n", + " Genital edema\n", + " definition of HP:0031188 (Genital edema)\n", + " \n", + " \n", + " A buildup of fluid that causes swelling in the soft tissues of the genital area.\n", + " definition of HP:0031188 (Genital edema)\n", + " \n", + " \n", + " #Genital oedema\n", + " definition of HP:0031188 (Genital edema)\n", + " \n", + " \n", + " Renal atrophy\n", + " definition of HP:0012585 (Renal atrophy)\n", + " \n", + " \n", + " Atrophy of the kidney.\n", + " definition of HP:0012585 (Renal atrophy)\n", + " \n", + " \n", + " #Kidney degeneration\n", + " definition of HP:0012585 (Renal atrophy)\n", + " \n", + " \n", + " Abnormal hair whorl\n", + " definition of HP:0010721 (Abnormal hair whorl)\n", + " \n", + " \n", + " An abnormal hair whorl (that is, a patch of hair growing in the opposite direction of the rest of the hair).\n", + " definition of HP:0010721 (Abnormal hair whorl)\n", + " \n", + " \n", + " #Abnormal hair whorl #Abnormal hair whorls #Abnormal whorl of hair\n", + " definition of HP:0010721 (Abnormal hair whorl)\n", + " \n", + " \n", + " Abnormality of the costochondral junction\n", + " definition of HP:0000919 (Abnormality of the costochondral junction)\n", + " \n", + " \n", + " Any anomaly of the costochondral junction. The costochondral junctions are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum.\n", + " definition of HP:0000919 (Abnormality of the costochondral junction)\n", + " \n", + " \n", + " #Costochondral juctions abnormal\n", + " definition of HP:0000919 (Abnormality of the costochondral junction)\n", + " \n", + " \n", + " Infantile axial hypotonia\n", + " definition of HP:0009062 (Infantile axial hypotonia)\n", + " \n", + " \n", + " Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk and with onset in infancy.\n", + " definition of HP:0009062 (Infantile axial hypotonia)\n", + " \n", + " \n", + " #Hypotonia, axial, in infancy\n", + " definition of HP:0009062 (Infantile axial hypotonia)\n", + " \n", + " \n", + " Osteolytic defects of the middle phalanges of the hand\n", + " definition of HP:0009847 (Osteolytic defects of the middle phalanges of the hand)\n", + " \n", + " \n", + " Intrahepatic biliary atresia\n", + " definition of HP:0005248 (Intrahepatic biliary atresia)\n", + " \n", + " \n", + " Atresia in the intrahepatic bile duct.\n", + " definition of HP:0005248 (Intrahepatic biliary atresia)\n", + " \n", + " \n", + " #Bile duct paucity #Intrahepatic atresia of biliary duct\n", + " definition of HP:0005248 (Intrahepatic biliary atresia)\n", + " \n", + " \n", + " Infection following live vaccination\n", + " definition of HP:0020085 (Infection following live vaccination)\n", + " \n", + " \n", + " An infection resulting from live attenuated vaccines (LAV), that is, a vaccine prepared from living viruses or bacteria that have been weakened under laboratory conditions. LAV vaccines will replicate in a vaccinated individual and produce an immune response but usually cause mild or no disease. are derived from disease-causing pathogens.\n", + " definition of HP:0020085 (Infection following live vaccination)\n", + " \n", + " \n", + " Hypoplastic nasal tip\n", + " definition of HP:0005278 (Hypoplastic nasal tip)\n", + " \n", + " \n", + " #Decreased size of nasal tip #Decreased size of tip of nose #Hypoplasia of tip of nose #Small nasal tip #Small tip of nose #Underdevelopment of nasal tip #Underdevelopment of tip of nose\n", + " definition of HP:0005278 (Hypoplastic nasal tip)\n", + " \n", + " \n", + " Transverse vaginal septum\n", + " definition of HP:0000145 (Transverse vaginal septum)\n", + " \n", + " \n", + " #Transverse vaginal membrane\n", + " definition of HP:0000145 (Transverse vaginal septum)\n", + " \n", + " \n", + " Sensory hypersensitivity\n", + " definition of HP:5200058 (Sensory hypersensitivity)\n", + " \n", + " \n", + " A decreased tolerance to sensory stimuli that triggers emotional and/or physical distress.\n", + " definition of HP:5200058 (Sensory hypersensitivity)\n", + " \n", + " \n", + " Elevated circulating carcinoembryonic antigen concentration\n", + " definition of HP:0031029 (Elevated circulating carcinoembryonic antigen concentration)\n", + " \n", + " \n", + " Concentration of the carcinoembryonic antigen (CEA) in the blood circulation above the upper limit of normal. CEA is a member of the immunoglobulin supergene family. The human CEA gene family is clustered on chromosome 19q and comprises 29 genes. CEA is highly expressed in embryonic tissue and in some cancers, and is a widely used tumor marker.\n", + " definition of HP:0031029 (Elevated circulating carcinoembryonic antigen concentration)\n", + " \n", + " \n", + " #Elevated carcinoembryonic antigen level #Increased plasma CEA\n", + " definition of HP:0031029 (Elevated circulating carcinoembryonic antigen concentration)\n", + " \n", + " \n", + " Small cerebellar cortex\n", + " definition of HP:0031423 (Small cerebellar cortex)\n", + " \n", + " \n", + " Reduced size of the cerebellar cortex.\n", + " definition of HP:0031423 (Small cerebellar cortex)\n", + " \n", + " \n", + " Abnormal drinking behavior\n", + " definition of HP:0030082 (Abnormal drinking behavior)\n", + " \n", + " \n", + " Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption.\n", + " definition of HP:0030082 (Abnormal drinking behavior)\n", + " \n", + " \n", + " #Abnormal drinking behavior #Abnormal drinking behaviour\n", + " definition of HP:0030082 (Abnormal drinking behavior)\n", + " \n", + " \n", + " Ankylosis\n", + " definition of HP:0031013 (Ankylosis)\n", + " \n", + " \n", + " A reduction of joint mobility resulting from changes involving the articular surfaces.\n", + " definition of HP:0031013 (Ankylosis)\n", + " \n", + " \n", + " Maculopapular exanthema\n", + " definition of HP:0040186 (Maculopapular exanthema)\n", + " \n", + " \n", + " A skin rash that is characterized by diffuse cutaneous erythema with areas of skin elevation. It may evolve to vesicles or papules as part of a more severe clinical entity. Different degrees of angioedema with involvement of subcutaneous tissue may also appear.\n", + " definition of HP:0040186 (Maculopapular exanthema)\n", + " \n", + " \n", + " Tessier number 10 facial cleft\n", + " definition of HP:0031582 (Tessier number 10 facial cleft)\n", + " \n", + " \n", + " In a Number 10 Tessier cleft there is an upper central orbital cleft with a cleft of the middle one-third of the upper eyelid, which often results in total ablepharia. The eyebrow is disrupted, being virtually absent medially, whereas the lateral portion angles upward toward the frontal hairline. There may be ocular anomalies, including colobomata of the iris. The skeletal cleft is through the midportion of the supraorbital rim, the adjacent frontal bone, and the orbital roof lateral to the supraorbital nerve. A frontal encephalocele frequently occupies the frontal bony cleft. The palpebral fissure is grossly elongated with an amblyopic eye displaced inferiorly and laterally. There is also a divergent squint of the right eye. The eyebrow is deficient medially and becomes thinned out laterally , where it is contiguous with a broad downward and forward projection of the frontotemporal hairline (this may be seen in both the Number 9 and 10 clefts.) A broad frontal encephalocele bulges forward from the middle one-third of the right forehead, supraorbital ridge, and orbital roof. The bony cleft, through which the frontal encephalocele presents, involves the anterior half of the orbital roof, the supraorbital rim, and two-thirds of the vertical height of the frontal bone lateral to the supraorbital nerve. The bony orbit is inferiorly displaced and widened with the lateral orbital wall shortened and laterally deviated. Similar distortion of the anterior cranial fossa is evident, being broader and more flattened on the affected side. The calvarium above the level of the cleft and the cranial base below is symmetric.\n", + " definition of HP:0031582 (Tessier number 10 facial cleft)\n", + " \n", + " \n", + " Pulmonary situs ambiguus\n", + " definition of HP:0011617 (Pulmonary situs ambiguus)\n", + " \n", + " \n", + " An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which the morphology of both left and right lungs is the same.\n", + " definition of HP:0011617 (Pulmonary situs ambiguus)\n", + " \n", + " \n", + " Juxtafoveal choroidal neovascularization\n", + " definition of HP:0031240 (Juxtafoveal choroidal neovascularization)\n", + " \n", + " \n", + " A type of choroidal neovascularization in which the nearest edge of the area of neovascularization is located 1 to 199 micrometers from the center of the fovea.\n", + " definition of HP:0031240 (Juxtafoveal choroidal neovascularization)\n", + " \n", + " \n", + " Elevated circulating hydroxybutyric acid concentration\n", + " definition of HP:0033417 (Elevated circulating hydroxybutyric acid concentration)\n", + " \n", + " \n", + " An increased concentration in the blood circulation of a hydroxybutyric acid, that is, of a compound comprising a butyric acid core carrying at least one hydroxy substituent.\n", + " definition of HP:0033417 (Elevated circulating hydroxybutyric acid concentration)\n", + " \n", + " \n", + " Cone-shaped epiphysis of the thumb\n", + " definition of HP:0009688 (Cone-shaped epiphysis of the thumb)\n", + " \n", + " \n", + " A cone-shaped appearance of the epiphyses of the thumb, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.\n", + " definition of HP:0009688 (Cone-shaped epiphysis of the thumb)\n", + " \n", + " \n", + " #Cone-shaped end part of thumb long bone #Cone-shaped epiphyses of the thumb #Cone-shaped thumb epiphyses\n", + " definition of HP:0009688 (Cone-shaped epiphysis of the thumb)\n", + " \n", + " \n", + " Mesangial proliferative lupus nephritis\n", + " definition of HP:0033728 (Mesangial proliferative lupus nephritis)\n", + " \n", + " \n", + " A subclass of lupus nephritis with purely mesangial hypercellularity of any degree or mesangial matrix expansion by lightmicroscopy, with mesangial immune deposits. A few isolated subepithelial or subendothelial deposits may be visible by immunoflourescence or electron microscopy, but not by light microscopy.\n", + " definition of HP:0033728 (Mesangial proliferative lupus nephritis)\n", + " \n", + " \n", + " #Class II lupus nephritis\n", + " definition of HP:0033728 (Mesangial proliferative lupus nephritis)\n", + " \n", + " \n", + " Intracranial epidermoid cyst\n", + " definition of HP:0012096 (Intracranial epidermoid cyst)\n", + " \n", + " \n", + " A congenital inclusion cysts that arises from ectodermal cells that normally form skin cells being left behind in the nervous system during development.\n", + " definition of HP:0012096 (Intracranial epidermoid cyst)\n", + " \n", + " \n", + " Dysostosis multiplex\n", + " definition of HP:0000943 (Dysostosis multiplex)\n", + " \n", + " \n", + " Sickled erythrocytes\n", + " definition of HP:0030058 (Sickled erythrocytes)\n", + " \n", + " \n", + " An irreversible distortion of the morphology of an erythrocyte such that the cells are elongated and curved, resembling the blade of a sickle (the hand-held agricultural tool traditionally used to harvest grains).\n", + " definition of HP:0030058 (Sickled erythrocytes)\n", + " \n", + " \n", + " Abnormal finger morphology\n", + " definition of HP:0001167 (Abnormal finger morphology)\n", + " \n", + " \n", + " An anomaly of a finger.\n", + " definition of HP:0001167 (Abnormal finger morphology)\n", + " \n", + " \n", + " #Abnormalities of the fingers #Abnormality of finger\n", + " definition of HP:0001167 (Abnormal finger morphology)\n", + " \n", + " \n", + " Mild albuminuria\n", + " definition of HP:0033065 (Mild albuminuria)\n", + " \n", + " \n", + " The presence of mildly increased concentrations of albumin in the urine, defined as an albumin-creatinine ratio (ACR) less than 30 mg/gm (less than 3.4 mg/mmol).\n", + " definition of HP:0033065 (Mild albuminuria)\n", + " \n", + " \n", + " Decreased muscle mass\n", + " definition of HP:0003199 (Decreased muscle mass)\n", + " \n", + " \n", + " #Decreased muscle mass\n", + " definition of HP:0003199 (Decreased muscle mass)\n", + " \n", + " \n", + " Arcuate vein medial atrophy\n", + " definition of HP:0033910 (Arcuate vein medial atrophy)\n", + " \n", + " \n", + " Atrophy (wasting, decreased thickness) of the middle layer of the arcuate veins of the kidney.\n", + " definition of HP:0033910 (Arcuate vein medial atrophy)\n", + " \n", + " \n", + " #Medial atrophy within arcuate veins\n", + " definition of HP:0033910 (Arcuate vein medial atrophy)\n", + " \n", + " \n", + " Alpha-gal allergy\n", + " definition of HP:0410319 (Alpha-gal allergy)\n", + " \n", + " \n", + " Hypersensitivity in form of an adverse immune reaction against alpha-gal.\n", + " definition of HP:0410319 (Alpha-gal allergy)\n", + " \n", + " \n", + " #Allergy to alpha-gal #Alpha-gal allergy #IgE-mediated alpha-gal allergy #Immunoglobulin E-mediated alpha-gal allergy\n", + " definition of HP:0410319 (Alpha-gal allergy)\n", + " \n", + " \n", + " Acne inversa\n", + " definition of HP:0040154 (Acne inversa)\n", + " \n", + " \n", + " A chronic skin condition involving the inflammation of the apocrine sweat glands, forming pimple-like bumps known as abscesses.\n", + " definition of HP:0040154 (Acne inversa)\n", + " \n", + " \n", + " #Hidradenitis suppurativa #Pyoderma fistulans significa #Smoker's boils #Verneuil's disease\n", + " definition of HP:0040154 (Acne inversa)\n", + " \n", + " \n", + " Abnormal morphology of female internal genitalia\n", + " definition of HP:0000008 (Abnormal morphology of female internal genitalia)\n", + " \n", + " \n", + " An abnormality of the female internal genitalia.\n", + " definition of HP:0000008 (Abnormal morphology of female internal genitalia)\n", + " \n", + " \n", + " #Abnormality of female internal genitalia\n", + " definition of HP:0000008 (Abnormal morphology of female internal genitalia)\n", + " \n", + " \n", + " Abnormality of amino acid metabolism\n", + " definition of HP:0004337 (Abnormality of amino acid metabolism)\n", + " \n", + " \n", + " Abnormality of an amino acid metabolic process.\n", + " definition of HP:0004337 (Abnormality of amino acid metabolism)\n", + " \n", + " \n", + " Multiple renal cysts\n", + " definition of HP:0005562 (Multiple renal cysts)\n", + " \n", + " \n", + " The presence of many cysts in the kidney.\n", + " definition of HP:0005562 (Multiple renal cysts)\n", + " \n", + " \n", + " #Multiple kidney cysts\n", + " definition of HP:0005562 (Multiple renal cysts)\n", + " \n", + " \n", + " Abnormal ganglion morphology\n", + " definition of HP:0410014 (Abnormal ganglion morphology)\n", + " \n", + " \n", + " An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system.\n", + " definition of HP:0410014 (Abnormal ganglion morphology)\n", + " \n", + " \n", + " #Abnormality of ganglion\n", + " definition of HP:0410014 (Abnormal ganglion morphology)\n", + " \n", + " \n", + " Airway obstruction\n", + " definition of HP:0006536 (Airway obstruction)\n", + " \n", + " \n", + " Obstruction of conducting airways of the lung.\n", + " definition of HP:0006536 (Airway obstruction)\n", + " \n", + " \n", + " #Obstructive lung disease #Pulmonary obstruction\n", + " definition of HP:0006536 (Airway obstruction)\n", + " \n", + " \n", + " Arcuate intimal/medial granulomatous venulitis\n", + " definition of HP:0033945 (Arcuate intimal/medial granulomatous venulitis)\n", + " \n", + " \n", + " A type of arcuate intimal/medial venulitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins.\n", + " definition of HP:0033945 (Arcuate intimal/medial granulomatous venulitis)\n", + " \n", + " \n", + " Mildly elevated creatine kinase\n", + " definition of HP:0008180 (Mildly elevated creatine kinase)\n", + " \n", + " \n", + " #Mildly elevated CPK #Mildly elevated creatine phosphokinase #Mildly elevated serum CK #Mildly elevated serum CPK #Mildly elevated serum phospho-CK #Mildly increased creatine kinase #Mildly increased serum creatine kinase #Moderately elevated serum CK #Moderately elevated serum CPK #Moderately increased serum creatine kinase\n", + " definition of HP:0008180 (Mildly elevated creatine kinase)\n", + " \n", + " \n", + " Derealization\n", + " definition of HP:5200218 (Derealization)\n", + " \n", + " \n", + " Depersonalization is a subjective experience in which an individual feels a sense of detachment or estrangement from their surroundings, leading to a distorted perception of the external world. It is characterized by a feeling of unreality or unfamiliarity with one's environment, as if things are dreamlike, artificial, or lacking in significance.\n", + " definition of HP:5200218 (Derealization)\n", + " \n", + " \n", + " Fractured proximal phalanx of manus\n", + " definition of HP:0041243 (Fractured proximal phalanx of manus)\n", + " \n", + " \n", + " A partial or complete breakage of the proximal phalanx of manus.\n", + " definition of HP:0041243 (Fractured proximal phalanx of manus)\n", + " \n", + " \n", + " #bone proximal phalanx of manus\n", + " definition of HP:0041243 (Fractured proximal phalanx of manus)\n", + " \n", + " \n", + " Whistling appearance\n", + " definition of HP:0000346 (Whistling appearance)\n", + " \n", + " \n", + " An abnormality of facial morphology characterized by a small mouth opening and constant contraction of the lips as if the patient were whistling.\n", + " definition of HP:0000346 (Whistling appearance)\n", + " \n", + " \n", + " #Whistling appearance #Whistling facial appearance\n", + " definition of HP:0000346 (Whistling appearance)\n", + " \n", + " \n", + " Neonatal hyperbilirubinemia\n", + " definition of HP:0003265 (Neonatal hyperbilirubinemia)\n", + " \n", + " \n", + " A type of hyperbilirubinemia with neonatal onset.\n", + " definition of HP:0003265 (Neonatal hyperbilirubinemia)\n", + " \n", + " \n", + " #High blood bilirubin levels in neonate #Hyperbilirubinemia, neonatal\n", + " definition of HP:0003265 (Neonatal hyperbilirubinemia)\n", + " \n", + " \n", + " Palate telangiectasia\n", + " definition of HP:0002707 (Palate telangiectasia)\n", + " \n", + " \n", + " The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the palate.\n", + " definition of HP:0002707 (Palate telangiectasia)\n", + " \n", + " \n", + " #Palatal angioectasia #Palatal telangiectasia #Palate telangiectases #Palate teleangiectases #Telangiectasia of the roof of the mouth\n", + " definition of HP:0002707 (Palate telangiectasia)\n", + " \n", + " \n", + " Elevated circulating desmosterol concentration\n", + " definition of HP:0034937 (Elevated circulating desmosterol concentration)\n", + " \n", + " \n", + " Concentration of desmosterol in the blood circulation above the upper limit of normal.\n", + " definition of HP:0034937 (Elevated circulating desmosterol concentration)\n", + " \n", + " \n", + " Hypohidrotic ectodermal dysplasia\n", + " definition of HP:0007607 (Hypohidrotic ectodermal dysplasia)\n", + " \n", + " \n", + " Degeneration of anterior horn cells\n", + " definition of HP:0002398 (Degeneration of anterior horn cells)\n", + " \n", + " \n", + " #Anterior horn cell loss #Degeneration of alpha-motor neurons in anterior horn cells of the spinal cord #Degeneration of spinal cord anterior horn cells #Loss of spinal cord anterior horn cells #Progressive loss of anterior horn cells #Spinal cord anterior horn cell degeneration\n", + " definition of HP:0002398 (Degeneration of anterior horn cells)\n", + " \n", + " \n", + " Renal fibrosis\n", + " definition of HP:0030760 (Renal fibrosis)\n", + " \n", + " \n", + " Renal fibrosis is the consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease.\n", + " definition of HP:0030760 (Renal fibrosis)\n", + " \n", + " \n", + " #Kidney fibrosis\n", + " definition of HP:0030760 (Renal fibrosis)\n", + " \n", + " \n", + " Micropenis\n", + " definition of HP:0000054 (Micropenis)\n", + " \n", + " \n", + " Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.\n", + " definition of HP:0000054 (Micropenis)\n", + " \n", + " \n", + " #Short penis #Small penis\n", + " definition of HP:0000054 (Micropenis)\n", + " \n", + " \n", + " Elevated urine glycolate\n", + " definition of HP:0031981 (Elevated urine glycolate)\n", + " \n", + " \n", + " An increased concentration of glycolate in the urine.\n", + " definition of HP:0031981 (Elevated urine glycolate)\n", + " \n", + " \n", + " Elevated carcinoma antigen 125 level\n", + " definition of HP:0031030 (Elevated carcinoma antigen 125 level)\n", + " \n", + " \n", + " An increased blood concentration of carcinoma antigen 125 (CA-125). CA-125, also known as mucin 16, can exhibit increased blood levels in certain types of cancer.\n", + " definition of HP:0031030 (Elevated carcinoma antigen 125 level)\n", + " \n", + " \n", + " #Increased plasma CA125\n", + " definition of HP:0031030 (Elevated carcinoma antigen 125 level)\n", + " \n", + " \n", + " Elevated circulating N,N-dimethylglycine concentration\n", + " definition of HP:0031945 (Elevated circulating N,N-dimethylglycine concentration)\n", + " \n", + " \n", + " An increased concentration of N,N-dimethylglycine in the circulation.\n", + " definition of HP:0031945 (Elevated circulating N,N-dimethylglycine concentration)\n", + " \n", + " \n", + " #Elevated N,N-dimethylglycine level\n", + " definition of HP:0031945 (Elevated circulating N,N-dimethylglycine concentration)\n", + " \n", + " \n", + " Abnormal ascending aorta morphology\n", + " definition of HP:0031784 (Abnormal ascending aorta morphology)\n", + " \n", + " \n", + " Any structural anomaly of the portion of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch and from which the coronary arteries arise.\n", + " definition of HP:0031784 (Abnormal ascending aorta morphology)\n", + " \n", + " \n", + " Positive blood Neisseria gonorrhoeae culture\n", + " definition of HP:6000902 (Positive blood Neisseria gonorrhoeae culture)\n", + " \n", + " \n", + " Growth of Neisseria gonorrhoeae in a culture derived from circulating blood.\n", + " definition of HP:6000902 (Positive blood Neisseria gonorrhoeae culture)\n", + " \n", + " \n", + " Bipolar affective disorder\n", + " definition of HP:0007302 (Bipolar affective disorder)\n", + " \n", + " \n", + " Bipolar disorder is an illness of mood characterized by alternating episodes of elevated and depressed moods, which are interspersed with euthymic periods.\n", + " definition of HP:0007302 (Bipolar affective disorder)\n", + " \n", + " \n", + " #Bipolar depression #Bipolar disorder #Manic depressive\n", + " definition of HP:0007302 (Bipolar affective disorder)\n", + " \n", + " \n", + " Abnormal lymphocyte morphology\n", + " definition of HP:0004332 (Abnormal lymphocyte morphology)\n", + " \n", + " \n", + " An abnormality of lymphocytes.\n", + " definition of HP:0004332 (Abnormal lymphocyte morphology)\n", + " \n", + " \n", + " #Abnormal lymphocytes #Abnormality of cells of the lymphoid lineage\n", + " definition of HP:0004332 (Abnormal lymphocyte morphology)\n", + " \n", + " \n", + " Lamellar cataract\n", + " definition of HP:0007971 (Lamellar cataract)\n", + " \n", + " \n", + " A congenital cataract in which opacity is limited to layers of the lens external to the nucleus (i.e., the perinuclear region), i.e., between the nuclear and cortical layers of the lens.\n", + " definition of HP:0007971 (Lamellar cataract)\n", + " \n", + " \n", + " Aplasia of the distal phalanx of the 4th toe\n", + " definition of HP:0100379 (Aplasia of the distal phalanx of the 4th toe)\n", + " \n", + " \n", + " #Absent distal phalanx of the 4th toe #Absent outermost bone of the 4th toe\n", + " definition of HP:0100379 (Aplasia of the distal phalanx of the 4th toe)\n", + " \n", + " \n", + " Increased fetal movement\n", + " definition of HP:0010519 (Increased fetal movement)\n", + " \n", + " \n", + " An abnormal increase in quantity or strength of fetal movements.\n", + " definition of HP:0010519 (Increased fetal movement)\n", + " \n", + " \n", + " #Fetal hyperkinesia #Foetal hyperkinesia #Increased foetal movement\n", + " definition of HP:0010519 (Increased fetal movement)\n", + " \n", + " \n", + " Midline defect of the nose\n", + " definition of HP:0004122 (Midline defect of the nose)\n", + " \n", + " \n", + " This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip.\n", + " definition of HP:0004122 (Midline defect of the nose)\n", + " \n", + " \n", + " #Central defect of nose #Central nasal defect #Midline defect of the nose #Midline nasal defect\n", + " definition of HP:0004122 (Midline defect of the nose)\n", + " \n", + " \n", + " Abnormal 4th finger phalanx morphology\n", + " definition of HP:0009172 (Abnormal 4th finger phalanx morphology)\n", + " \n", + " \n", + " Abnormality of the phalanges of the 4th (ring) finger.\n", + " definition of HP:0009172 (Abnormal 4th finger phalanx morphology)\n", + " \n", + " \n", + " #Abnormal bones of 4th finger #Abnormality of the phalanges of the ring finger\n", + " definition of HP:0009172 (Abnormal 4th finger phalanx morphology)\n", + " \n", + " \n", + " Dyspareunia\n", + " definition of HP:0030016 (Dyspareunia)\n", + " \n", + " \n", + " Recurrent or persistent genital pain associated with sexual intercourse.\n", + " definition of HP:0030016 (Dyspareunia)\n", + " \n", + " \n", + " Increased erythrocyte uroproporphyrin concentration\n", + " definition of HP:0034910 (Increased erythrocyte uroproporphyrin concentration)\n", + " \n", + " \n", + " Concentration of uroproporphyrin in erythrocytes above the upper limit of normal.\n", + " definition of HP:0034910 (Increased erythrocyte uroproporphyrin concentration)\n", + " \n", + " \n", + " #Uroporphyrin high in erythrocytes\n", + " definition of HP:0034910 (Increased erythrocyte uroproporphyrin concentration)\n", + " \n", + " \n", + " Spontaneous hematomas\n", + " definition of HP:0007420 (Spontaneous hematomas)\n", + " \n", + " \n", + " Spontaneous development of hematomas (hematoma) or bruises without significant trauma.\n", + " definition of HP:0007420 (Spontaneous hematomas)\n", + " \n", + " \n", + " Increased muscle lipid content\n", + " definition of HP:0009058 (Increased muscle lipid content)\n", + " \n", + " \n", + " An abnormal accumulation of lipids in skeletal muscle.\n", + " definition of HP:0009058 (Increased muscle lipid content)\n", + " \n", + " \n", + " #Fat accumulation in muscle fibers #Fat accumulation in muscle fibres #Fat deposits in muscle fibers #Fat deposits in muscle fibres #Increased muscle lipid content #Lipid accumulation in skeletal muscle #Muscle lipidosis #Skeletal muscle lipid accumulation\n", + " definition of HP:0009058 (Increased muscle lipid content)\n", + " \n", + " \n", + " Fractured proximal phalanx of manual digit 1\n", + " definition of HP:0041188 (Fractured proximal phalanx of manual digit 1)\n", + " \n", + " \n", + " A partial or complete breakage of the proximal phalanx of manual digit 1.\n", + " definition of HP:0041188 (Fractured proximal phalanx of manual digit 1)\n", + " \n", + " \n", + " #bone proximal phalanx of manual digit 1\n", + " definition of HP:0041188 (Fractured proximal phalanx of manual digit 1)\n", + " \n", + " \n", + " Hypophosphatemia\n", + " definition of HP:0002148 (Hypophosphatemia)\n", + " \n", + " \n", + " An abnormally decreased phosphate concentration in the blood.\n", + " definition of HP:0002148 (Hypophosphatemia)\n", + " \n", + " \n", + " #Hypophosphataemia #Low blood phosphate level\n", + " definition of HP:0002148 (Hypophosphatemia)\n", + " \n", + " \n", + " Deformed humerus\n", + " definition of HP:0003871 (Deformed humerus)\n", + " \n", + " \n", + " #Deformed long bone in upper arm\n", + " definition of HP:0003871 (Deformed humerus)\n", + " \n", + " \n", + " Herpetiform vesicles\n", + " definition of HP:0031448 (Herpetiform vesicles)\n", + " \n", + " \n", + " Multiple vesicles distributed in multiple distinct groups consisting of multiple adjacent vesicles.\n", + " definition of HP:0031448 (Herpetiform vesicles)\n", + " \n", + " \n", + " Fractured distal phalanx of manual digit 3\n", + " definition of HP:0041177 (Fractured distal phalanx of manual digit 3)\n", + " \n", + " \n", + " A partial or complete breakage of the distal phalanx of manual digit 3.\n", + " definition of HP:0041177 (Fractured distal phalanx of manual digit 3)\n", + " \n", + " \n", + " #bone distal phalanx of manual digit 3\n", + " definition of HP:0041177 (Fractured distal phalanx of manual digit 3)\n", + " \n", + " \n", + " Sclerosis of hand bones with transverse striations\n", + " definition of HP:0004290 (Sclerosis of hand bones with transverse striations)\n", + " \n", + " \n", + " Bilateral superior vena cava\n", + " definition of HP:0033379 (Bilateral superior vena cava)\n", + " \n", + " \n", + " The presence of a left and a right superior vena cava.\n", + " definition of HP:0033379 (Bilateral superior vena cava)\n", + " \n", + " \n", + " #Bilateral SVC\n", + " definition of HP:0033379 (Bilateral superior vena cava)\n", + " \n", + " \n", + " Bulbous tips of toes\n", + " definition of HP:0001782 (Bulbous tips of toes)\n", + " \n", + " \n", + " An abnormality of the morphology of the toes, such that the tips of the toes are prominent and bulbous.\n", + " definition of HP:0001782 (Bulbous tips of toes)\n", + " \n", + " \n", + " Emphysema\n", + " definition of HP:0002097 (Emphysema)\n", + " \n", + " \n", + " #Pulmonary emphysema\n", + " definition of HP:0002097 (Emphysema)\n", + " \n", + " \n", + " Shawl sign\n", + " definition of HP:0025535 (Shawl sign)\n", + " \n", + " \n", + " Erythematous, poikilodermatous macules distributed in a shawl pattern over the shoulders, arms and upper back.\n", + " definition of HP:0025535 (Shawl sign)\n", + " \n", + " \n", + " Hypoamylasemia\n", + " definition of HP:0410289 (Hypoamylasemia)\n", + " \n", + " \n", + " Decreased level of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands.\n", + " definition of HP:0410289 (Hypoamylasemia)\n", + " \n", + " \n", + " #Decreased circulating amylase level\n", + " definition of HP:0410289 (Hypoamylasemia)\n", + " \n", + " \n", + " Limb-girdle muscular dystrophy\n", + " definition of HP:0006785 (Limb-girdle muscular dystrophy)\n", + " \n", + " \n", + " Muscular dystrophy affecting the muscles of the limb girdle (the hips and shoulders).\n", + " definition of HP:0006785 (Limb-girdle muscular dystrophy)\n", + " \n", + " \n", + " #limb girdle muscular dystrophy\n", + " definition of HP:0006785 (Limb-girdle muscular dystrophy)\n", + " \n", + " \n", + " History of exclusive breast feeding\n", + " definition of HP:4000122 (History of exclusive breast feeding)\n", + " \n", + " \n", + " A past medical history of having been fed exclusively by breast feeding.\n", + " definition of HP:4000122 (History of exclusive breast feeding)\n", + " \n", + " \n", + " #Breast feeding, exclusive\n", + " definition of HP:4000122 (History of exclusive breast feeding)\n", + " \n", + " \n", + " Fatigable weakness of respiratory muscles\n", + " definition of HP:0030196 (Fatigable weakness of respiratory muscles)\n", + " \n", + " \n", + " A type of weakness of the muscles involved in breathing (respiration) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.\n", + " definition of HP:0030196 (Fatigable weakness of respiratory muscles)\n", + " \n", + " \n", + " Reduction of oligodendroglia\n", + " definition of HP:0100709 (Reduction of oligodendroglia)\n", + " \n", + " \n", + " Periumbilical\n", + " definition of HP:0034854 (Periumbilical)\n", + " \n", + " \n", + " Applies to an abnormality whose distribution and appearance are located at or near the umbilicus (belly button).\n", + " definition of HP:0034854 (Periumbilical)\n", + " \n", + " \n", + " Symphalangism of middle phalanx of 5th finger\n", + " definition of HP:0009178 (Symphalangism of middle phalanx of 5th finger)\n", + " \n", + " \n", + " Fusion of the middle phalanx of the 5th finger with another bone.\n", + " definition of HP:0009178 (Symphalangism of middle phalanx of 5th finger)\n", + " \n", + " \n", + " #Fused middle bones of little finger #Fused middle bones of pinkie finger #Fused middle bones of pinky finger\n", + " definition of HP:0009178 (Symphalangism of middle phalanx of 5th finger)\n", + " \n", + " \n", + " Triangular epiphysis of the distal phalanx of the hallux\n", + " definition of HP:0010148 (Triangular epiphysis of the distal phalanx of the hallux)\n", + " \n", + " \n", + " #Triangular end part of the outermost bone of the big toe\n", + " definition of HP:0010148 (Triangular epiphysis of the distal phalanx of the hallux)\n", + " \n", + " \n", + " Death in early adulthood\n", + " definition of HP:0100613 (Death in early adulthood)\n", + " \n", + " \n", + " Death between the age of 16 and 40 years.\n", + " definition of HP:0100613 (Death in early adulthood)\n", + " \n", + " \n", + " #Death in early adulthood\n", + " definition of HP:0100613 (Death in early adulthood)\n", + " \n", + " \n", + " Medial deviation of the foot\n", + " definition of HP:0008082 (Medial deviation of the foot)\n", + " \n", + " \n", + " Reduced muscle glycogen debrancher enzyme activity\n", + " definition of HP:6000616 (Reduced muscle glycogen debrancher enzyme activity)\n", + " \n", + " \n", + " Activity of the gycogen debrancher enzyme (GDE) in muscle tissue is below the lower limit of normal. GDE is a large monomeric protein with two catalytic activities: amylo-1,6-glucosidase (EC 3.2.1.33) and 4-alpha-glucanotransferase (EC 2.4.1.25).\n", + " definition of HP:6000616 (Reduced muscle glycogen debrancher enzyme activity)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the middle phalanx of the 5th finger\n", + " definition of HP:0009161 (Aplasia/Hypoplasia of the middle phalanx of the 5th finger)\n", + " \n", + " \n", + " Absence or underdevelopment (hypoplasia) of the middle phalanx of the little (5th) finger.\n", + " definition of HP:0009161 (Aplasia/Hypoplasia of the middle phalanx of the 5th finger)\n", + " \n", + " \n", + " #Absent/hypoplastic middle phalanx of 5th finger #Absent/small middle bone of pinky finger #Absent/underdeveloped middle bone of little finger #Absent/underdeveloped middle bone of pinkie finger #Absent/underdeveloped middle bone of pinky finger\n", + " definition of HP:0009161 (Aplasia/Hypoplasia of the middle phalanx of the 5th finger)\n", + " \n", + " \n", + " Epidermal necrosis\n", + " definition of HP:0034801 (Epidermal necrosis)\n", + " \n", + " \n", + " Death of keratinocytes in the epidermis layer of the skin, which generally manifests as extensive exfoliation (separation of the epidermis from the underlying dermis).\n", + " definition of HP:0034801 (Epidermal necrosis)\n", + " \n", + " \n", + " Tethered cord\n", + " definition of HP:0002144 (Tethered cord)\n", + " \n", + " \n", + " During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord.\n", + " definition of HP:0002144 (Tethered cord)\n", + " \n", + " \n", + " #Occult spinal dysraphism\n", + " definition of HP:0002144 (Tethered cord)\n", + " \n", + " \n", + " Elevated CSF DOPA concentration\n", + " definition of HP:0034605 (Elevated CSF DOPA concentration)\n", + " \n", + " \n", + " Concentration of DOPA (3,4-dihydroxyphenylalanine) in the cerebrospinal fluid above the upper limit of normal.\n", + " definition of HP:0034605 (Elevated CSF DOPA concentration)\n", + " \n", + " \n", + " #Elevated CSF 3,4-dihydroxyphenylalanine concentration\n", + " definition of HP:0034605 (Elevated CSF DOPA concentration)\n", + " \n", + " \n", + " Posiitve skin scabies test\n", + " definition of HP:6000899 (Posiitve skin scabies test)\n", + " \n", + " \n", + " Identification of scabies by means of an examination of the skin such as microscopic identification of scabies mites, eggs, or feces from obtained scales by skin scraping.\n", + " definition of HP:6000899 (Posiitve skin scabies test)\n", + " \n", + " \n", + " Cutaneous telangiectasia\n", + " definition of HP:0034697 (Cutaneous telangiectasia)\n", + " \n", + " \n", + " Dilated blood vessels on the skin.\n", + " definition of HP:0034697 (Cutaneous telangiectasia)\n", + " \n", + " \n", + " Erythematous papule\n", + " definition of HP:0030350 (Erythematous papule)\n", + " \n", + " \n", + " A circumscribed, solid elevation of skin with no visible fluid that is reddish (erythematous) in color.\n", + " definition of HP:0030350 (Erythematous papule)\n", + " \n", + " \n", + " Lhermitte's sign\n", + " definition of HP:0032504 (Lhermitte's sign)\n", + " \n", + " \n", + " An electric shock-like sensation that occurs on flexion of the neck. This sensation radiates down the spine, often into the legs, arms, and sometimes to the trunk.\n", + " definition of HP:0032504 (Lhermitte's sign)\n", + " \n", + " \n", + " #Barber chair phenomenon #Lhermitte's phenomenon\n", + " definition of HP:0032504 (Lhermitte's sign)\n", + " \n", + " \n", + " Acanthosis nigricans\n", + " definition of HP:0000956 (Acanthosis nigricans)\n", + " \n", + " \n", + " A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck.\n", + " definition of HP:0000956 (Acanthosis nigricans)\n", + " \n", + " \n", + " #Darkened and thickened skin #Keratosis nigricans\n", + " definition of HP:0000956 (Acanthosis nigricans)\n", + " \n", + " \n", + " Cleft lower lip\n", + " definition of HP:0010281 (Cleft lower lip)\n", + " \n", + " \n", + " A gap in the lower lip.\n", + " definition of HP:0010281 (Cleft lower lip)\n", + " \n", + " \n", + " #Cleft lower lip #Cleft of the lower lip #Lower labial cleft\n", + " definition of HP:0010281 (Cleft lower lip)\n", + " \n", + " \n", + " Difficulty standing\n", + " definition of HP:0003698 (Difficulty standing)\n", + " \n", + " \n", + " #Difficulty in standing #Standing instability\n", + " definition of HP:0003698 (Difficulty standing)\n", + " \n", + " \n", + " Colorectal polyposis\n", + " definition of HP:0200063 (Colorectal polyposis)\n", + " \n", + " \n", + " Multiple abnormal growths that arise from the lining of the large intestine (colon or rectum) and protrude into the intestinal lumen.\n", + " definition of HP:0200063 (Colorectal polyposis)\n", + " \n", + " \n", + " #Colorectal polyps\n", + " definition of HP:0200063 (Colorectal polyposis)\n", + " \n", + " \n", + " Generalized joint hypermobility\n", + " definition of HP:0002761 (Generalized joint hypermobility)\n", + " \n", + " \n", + " Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body. In individuals with Joint hypermobility at multiple sites (usually five or more), the term generalized joint hypermobility is preferred.\n", + " definition of HP:0002761 (Generalized joint hypermobility)\n", + " \n", + " \n", + " #Generalised joint laxity #Generalized joint laxity #Hypermobility of all joints\n", + " definition of HP:0002761 (Generalized joint hypermobility)\n", + " \n", + " \n", + " Carious teeth\n", + " definition of HP:0000670 (Carious teeth)\n", + " \n", + " \n", + " Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.\n", + " definition of HP:0000670 (Carious teeth)\n", + " \n", + " \n", + " #Caries #Cariosity of teeth #Dental caries #Dental cavities #Early dental caries #Frequent caries #Tooth cavities #Tooth decay\n", + " definition of HP:0000670 (Carious teeth)\n", + " \n", + " \n", + " Absent tonsils\n", + " definition of HP:0030813 (Absent tonsils)\n", + " \n", + " \n", + " Lack of observable tonsillar tissue.\n", + " definition of HP:0030813 (Absent tonsils)\n", + " \n", + " \n", + " #Hypoplastic tonsils #Tonsillar hypoplasia\n", + " definition of HP:0030813 (Absent tonsils)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the pubic bone\n", + " definition of HP:0009104 (Aplasia/Hypoplasia of the pubic bone)\n", + " \n", + " \n", + " Absence or underdevelopment of the pubic bone.\n", + " definition of HP:0009104 (Aplasia/Hypoplasia of the pubic bone)\n", + " \n", + " \n", + " #Absent/small pubic bones #Absent/underdeveloped pubic bones #Hypoplastic/aplastic pubic bones\n", + " definition of HP:0009104 (Aplasia/Hypoplasia of the pubic bone)\n", + " \n", + " \n", + " Abnormal fetal physiology\n", + " definition of HP:0034059 (Abnormal fetal physiology)\n", + " \n", + " \n", + " Any functional anomaly of the fetus.\n", + " definition of HP:0034059 (Abnormal fetal physiology)\n", + " \n", + " \n", + " #Functional fetal anomaly #Functional foetal anomaly\n", + " definition of HP:0034059 (Abnormal fetal physiology)\n", + " \n", + " \n", + " Prolonged retraction of penile foreskin\n", + " definition of HP:6000935 (Prolonged retraction of penile foreskin)\n", + " \n", + " \n", + " A past medical history of recently having retracted the penile foreskin for a prolonged period of time. Paraphimosis commonly occurs iatrogenically, when the foreskin is retracted for cleaning, placement of a urinary catheter, a procedure such as a cystoscopy, or for penile examination. Failure to return the retracted foreskin over the glans promptly after the initial retraction can lead to paraphimosis.\n", + " definition of HP:6000935 (Prolonged retraction of penile foreskin)\n", + " \n", + " \n", + " Maturity-onset diabetes of the young\n", + " definition of HP:0004904 (Maturity-onset diabetes of the young)\n", + " \n", + " \n", + " The term Maturity-onset diabetes of the young (MODY) was initially used for patients diagnosed with fasting hyperglycemia that could be treated without insulin for more than two years, where the initial diagnosis was made at a young age (under 25 years). Thus, MODY combines characteristics of type 1 diabetes (young age at diagnosis) and type 2 diabetes (less insulin dependence than type 1 diabetes). The term MODY is now most often used to refer to a group of monogenic diseases with these characteristics. Here, the term is used to describe hyperglycemia diagnosed at a young age with no or minor insulin dependency, no evidence of insulin resistance, and lack of evidence of autoimmune destruction of the beta cells.\n", + " definition of HP:0004904 (Maturity-onset diabetes of the young)\n", + " \n", + " \n", + " #Maturity onset diabetes of the young\n", + " definition of HP:0004904 (Maturity-onset diabetes of the young)\n", + " \n", + " \n", + " Coronary cataract\n", + " definition of HP:0025559 (Coronary cataract)\n", + " \n", + " \n", + " A type of cataract characterized by club-shaped and dot opacities distributed radially in the deep cortex. These lens opacities surround the nucleus in an appearance that is though to resemble a crown.\n", + " definition of HP:0025559 (Coronary cataract)\n", + " \n", + " \n", + " Abnormal sadness\n", + " definition of HP:5200273 (Abnormal sadness)\n", + " \n", + " \n", + " Experience of intense or excessively negative feelings that may include profound unhappiness, feeling low, down, or sorrowful and are beyond cultural or societal norms. Commonly associated with a low self-attitude and grim outlook.\n", + " definition of HP:5200273 (Abnormal sadness)\n", + " \n", + " \n", + " #Sad\n", + " definition of HP:5200273 (Abnormal sadness)\n", + " \n", + " \n", + " Aplasia of the upper vagina\n", + " definition of HP:0012673 (Aplasia of the upper vagina)\n", + " \n", + " \n", + " A failure to develop of the upper vagina.\n", + " definition of HP:0012673 (Aplasia of the upper vagina)\n", + " \n", + " \n", + " #Absent upper vagina\n", + " definition of HP:0012673 (Aplasia of the upper vagina)\n", + " \n", + " \n", + " Sphincter of Oddi dyskinesia\n", + " definition of HP:0012441 (Sphincter of Oddi dyskinesia)\n", + " \n", + " \n", + " Reduced motility through the sphincter of Oddi, resulting in impedance of bile and pancreatic juice flow from the common bile duct into the duodenum.\n", + " definition of HP:0012441 (Sphincter of Oddi dyskinesia)\n", + " \n", + " \n", + " Bicoronal synostosis\n", + " definition of HP:0011318 (Bicoronal synostosis)\n", + " \n", + " \n", + " Synostosis affecting the right and the left coronal suture.\n", + " definition of HP:0011318 (Bicoronal synostosis)\n", + " \n", + " \n", + " #Bilateral coronal craniosynostosis #Bilateral coronal suture craniosynostosis #Bilateral coronal suture synostosis\n", + " definition of HP:0011318 (Bicoronal synostosis)\n", + " \n", + " \n", + " Hypoplasia of the cochlea\n", + " definition of HP:0008586 (Hypoplasia of the cochlea)\n", + " \n", + " \n", + " Developmental hypoplasia of the cochlea.\n", + " definition of HP:0008586 (Hypoplasia of the cochlea)\n", + " \n", + " \n", + " #Hypoplastic cochlea #Underdeveloped cochlea\n", + " definition of HP:0008586 (Hypoplasia of the cochlea)\n", + " \n", + " \n", + " Abnormality of the larynx\n", + " definition of HP:0001600 (Abnormality of the larynx)\n", + " \n", + " \n", + " An abnormality of the larynx.\n", + " definition of HP:0001600 (Abnormality of the larynx)\n", + " \n", + " \n", + " #Laryngeal abnormalities #Laryngeal anomalies\n", + " definition of HP:0001600 (Abnormality of the larynx)\n", + " \n", + " \n", + " Reduced malonyl-CoA decarboxylase activity in cultured fibroblasts\n", + " definition of HP:6000355 (Reduced malonyl-CoA decarboxylase activity in cultured fibroblasts)\n", + " \n", + " \n", + " Activity of malonyl-CoA decarboxylase (EC 4.1.1.9) below the lower limit of normal in cultured fibroblasts.\n", + " definition of HP:6000355 (Reduced malonyl-CoA decarboxylase activity in cultured fibroblasts)\n", + " \n", + " \n", + " Agenesis of permanent teeth\n", + " definition of HP:0006349 (Agenesis of permanent teeth)\n", + " \n", + " \n", + " A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth.\n", + " definition of HP:0006349 (Agenesis of permanent teeth)\n", + " \n", + " \n", + " #Absence of adult teeth #Absence of permanent teeth #Absence of secondary dentition #Absent permanent teeth #Agenesis of permanent dentition #Agenesis of secondary dentition #Failure of development of permanent teeth #Failure of development of secondary teeth #Missing teeth #No permanent dentition\n", + " definition of HP:0006349 (Agenesis of permanent teeth)\n", + " \n", + " \n", + " Atypical sensory examination of objects\n", + " definition of HP:5200132 (Atypical sensory examination of objects)\n", + " \n", + " \n", + " 2-3-layered lissencephaly\n", + " definition of HP:0032457 (2-3-layered lissencephaly)\n", + " \n", + " \n", + " Pachygyria-agyria spectrum whereby at neuropathological examination the cortical plate consists of a two-three layered organization made up of a molecular layer, a relatively thin wavy layer with a higher cellular density and a third layer with lower cellularity.\n", + " definition of HP:0032457 (2-3-layered lissencephaly)\n", + " \n", + " \n", + " Anterograde memory impairment\n", + " definition of HP:0033689 (Anterograde memory impairment)\n", + " \n", + " \n", + " The impaired ability to establish new long-term memories.\n", + " definition of HP:0033689 (Anterograde memory impairment)\n", + " \n", + " \n", + " #Anterograde amnesia\n", + " definition of HP:0033689 (Anterograde memory impairment)\n", + " \n", + " \n", + " Anti-thrombospondin type I domain-containing 7A antibody positivity\n", + " definition of HP:6000187 (Anti-thrombospondin type I domain-containing 7A antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against thrombospondin type I domain-containing 7A.\n", + " definition of HP:6000187 (Anti-thrombospondin type I domain-containing 7A antibody positivity)\n", + " \n", + " \n", + " #Anti-THSD7A antibody #Anti-THSD7A antibody present in blood\n", + " definition of HP:6000187 (Anti-thrombospondin type I domain-containing 7A antibody positivity)\n", + " \n", + " \n", + " Flexion contracture of the 2nd toe\n", + " definition of HP:0010327 (Flexion contracture of the 2nd toe)\n", + " \n", + " \n", + " One or more bent (flexed) joints of the second toe that cannot be straightened actively or passively.\n", + " definition of HP:0010327 (Flexion contracture of the 2nd toe)\n", + " \n", + " \n", + " #Joint contractures of the 2nd toe\n", + " definition of HP:0010327 (Flexion contracture of the 2nd toe)\n", + " \n", + " \n", + " Abnormal coronary artery morphology\n", + " definition of HP:0006704 (Abnormal coronary artery morphology)\n", + " \n", + " \n", + " Any structural abnormality of the coronary arteries.\n", + " definition of HP:0006704 (Abnormal coronary artery morphology)\n", + " \n", + " \n", + " Caudal appendage\n", + " definition of HP:0002825 (Caudal appendage)\n", + " \n", + " \n", + " The presence of a tail-like skin appendage located adjacent to the sacrum.\n", + " definition of HP:0002825 (Caudal appendage)\n", + " \n", + " \n", + " #Coccygeal tail #Human tail #Sacral appendage\n", + " definition of HP:0002825 (Caudal appendage)\n", + " \n", + " \n", + " Abnormal tricuspid valve leaflet morphology\n", + " definition of HP:0031443 (Abnormal tricuspid valve leaflet morphology)\n", + " \n", + " \n", + " Any structural anomaly of the leaflets (also known as cusps) of the tricuspid valve.\n", + " definition of HP:0031443 (Abnormal tricuspid valve leaflet morphology)\n", + " \n", + " \n", + " Localized hirsutism\n", + " definition of HP:0009889 (Localized hirsutism)\n", + " \n", + " \n", + " Abnormally increased hair growth with a localized distribution.\n", + " definition of HP:0009889 (Localized hirsutism)\n", + " \n", + " \n", + " #Localised abnormal hair growth #Localised hirsutism #Localized abnormal hair growth\n", + " definition of HP:0009889 (Localized hirsutism)\n", + " \n", + " \n", + " Upper motor neuron dysfunction\n", + " definition of HP:0002493 (Upper motor neuron dysfunction)\n", + " \n", + " \n", + " A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs.\n", + " definition of HP:0002493 (Upper motor neuron dysfunction)\n", + " \n", + " \n", + " #Corticospinal tract dysfunction #Pyramidal tract dysfunction\n", + " definition of HP:0002493 (Upper motor neuron dysfunction)\n", + " \n", + " \n", + " Olivopontocerebellar atrophy\n", + " definition of HP:0002542 (Olivopontocerebellar atrophy)\n", + " \n", + " \n", + " Neuronal degeneration in the cerebellum, pontine nuclei, and inferior olivary nucleus.\n", + " definition of HP:0002542 (Olivopontocerebellar atrophy)\n", + " \n", + " \n", + " #Olivopontocerebellar degeneration\n", + " definition of HP:0002542 (Olivopontocerebellar atrophy)\n", + " \n", + " \n", + " Periventricular heterotopia\n", + " definition of HP:0007165 (Periventricular heterotopia)\n", + " \n", + " \n", + " A form of gray matter heterotopia were the mislocalized gray matter is typically located periventricularly, also sometimes called subependymal heterotopia. Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. There can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass.\n", + " definition of HP:0007165 (Periventricular heterotopia)\n", + " \n", + " \n", + " #Periventricular gray matter heterotopia #Periventricular grey matter heterotopia #Periventricular neuronal heterotopia #Subependymal gray matter heterotopia #Subependymal grey matter heterotopia #Subependymal neuronal heterotopia\n", + " definition of HP:0007165 (Periventricular heterotopia)\n", + " \n", + " \n", + " Low insertion of columella\n", + " definition of HP:0010763 (Low insertion of columella)\n", + " \n", + " \n", + " Insertion of the posterior columella below the nasal base.\n", + " definition of HP:0010763 (Low insertion of columella)\n", + " \n", + " \n", + " #Columella, low insertion\n", + " definition of HP:0010763 (Low insertion of columella)\n", + " \n", + " \n", + " Gastrointestinal ulcer\n", + " definition of HP:0034274 (Gastrointestinal ulcer)\n", + " \n", + " \n", + " A deep defect in the esophageal, gastric, duodenal or intestinal wall involving the entire mucosal thickness and penetrating through the muscularis mucosae.\n", + " definition of HP:0034274 (Gastrointestinal ulcer)\n", + " \n", + " \n", + " Hepatic arteriovenous malformation\n", + " definition of HP:0006574 (Hepatic arteriovenous malformation)\n", + " \n", + " \n", + " #Liver arteriovenous malformation\n", + " definition of HP:0006574 (Hepatic arteriovenous malformation)\n", + " \n", + " \n", + " Abnormal HDL3c concentration\n", + " definition of HP:0032427 (Abnormal HDL3c concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm.\n", + " definition of HP:0032427 (Abnormal HDL3c concentration)\n", + " \n", + " \n", + " Mallet finger\n", + " definition of HP:0030771 (Mallet finger)\n", + " \n", + " \n", + " Mallet finger refers to a condition in which the end joint of a finger bends but will not straighten by itself. In this situation, the joint can be pushed straight but will not hold that position on its own.\n", + " definition of HP:0030771 (Mallet finger)\n", + " \n", + " \n", + " Peripheral edema\n", + " definition of HP:0012398 (Peripheral edema)\n", + " \n", + " \n", + " An abnormal accumulation of interstitial fluid in the soft tissues of the limbs.\n", + " definition of HP:0012398 (Peripheral edema)\n", + " \n", + " \n", + " #Peripheral oedema\n", + " definition of HP:0012398 (Peripheral edema)\n", + " \n", + " \n", + " Abnormal CD4+CD25+ regulatory T cell proportion\n", + " definition of HP:0020111 (Abnormal CD4+CD25+ regulatory T cell proportion)\n", + " \n", + " \n", + " A deviation from the normal proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells.\n", + " definition of HP:0020111 (Abnormal CD4+CD25+ regulatory T cell proportion)\n", + " \n", + " \n", + " #Abnormal CD4+CD25+ Treg cell proportion\n", + " definition of HP:0020111 (Abnormal CD4+CD25+ regulatory T cell proportion)\n", + " \n", + " \n", + " Abnormality of the umbilical cord\n", + " definition of HP:0010881 (Abnormality of the umbilical cord)\n", + " \n", + " \n", + " An abnormality of the umbilical cord, which is the cord connecting the developing embryo or fetus to the placenta.\n", + " definition of HP:0010881 (Abnormality of the umbilical cord)\n", + " \n", + " \n", + " #Umbilical cord issue\n", + " definition of HP:0010881 (Abnormality of the umbilical cord)\n", + " \n", + " \n", + " Spiculated\n", + " definition of HP:6001049 (Spiculated)\n", + " \n", + " \n", + " Applies to an abnormality with irregular, radiating, or spiky edges.\n", + " definition of HP:6001049 (Spiculated)\n", + " \n", + " \n", + " Elevated urinary xanthurenic acid level\n", + " definition of HP:6000121 (Elevated urinary xanthurenic acid level)\n", + " \n", + " \n", + " The amount of xanthurenic acid in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000121 (Elevated urinary xanthurenic acid level)\n", + " \n", + " \n", + " Advanced sclerotic lupus nephritis\n", + " definition of HP:0033732 (Advanced sclerotic lupus nephritis)\n", + " \n", + " \n", + " A subclass of lupus nephritis with at least 90% of glomeruli globally sclerosed without residual activity.\n", + " definition of HP:0033732 (Advanced sclerotic lupus nephritis)\n", + " \n", + " \n", + " #Class VI lupus nephritis\n", + " definition of HP:0033732 (Advanced sclerotic lupus nephritis)\n", + " \n", + " \n", + " Ameliorated by pregnancy\n", + " definition of HP:0025255 (Ameliorated by pregnancy)\n", + " \n", + " \n", + " Applies to a sign or symptom that is improved or made more bearable by pregnancy in a female.\n", + " definition of HP:0025255 (Ameliorated by pregnancy)\n", + " \n", + " \n", + " #Pregnancy relieves symptoms\n", + " definition of HP:0025255 (Ameliorated by pregnancy)\n", + " \n", + " \n", + " Thick nasal alae\n", + " definition of HP:0009928 (Thick nasal alae)\n", + " \n", + " \n", + " Increase in bulk of the ala nasi.\n", + " definition of HP:0009928 (Thick nasal alae)\n", + " \n", + " \n", + " #Ala nasi, thick #Thickening of the alae nasi\n", + " definition of HP:0009928 (Thick nasal alae)\n", + " \n", + " \n", + " Abnormality of the epiphysis of the distal phalanx of the hallux\n", + " definition of HP:0010124 (Abnormality of the epiphysis of the distal phalanx of the hallux)\n", + " \n", + " \n", + " #Abnormality of the end part of the outermost bone of the big toe bone\n", + " definition of HP:0010124 (Abnormality of the epiphysis of the distal phalanx of the hallux)\n", + " \n", + " \n", + " Stippled calcification of the humeral epiphyses\n", + " definition of HP:0003901 (Stippled calcification of the humeral epiphyses)\n", + " \n", + " \n", + " Accumulation of melanosomes in melanocytes\n", + " definition of HP:0001008 (Accumulation of melanosomes in melanocytes)\n", + " \n", + " \n", + " Abnormal TSH response to thyrotrophin-releasing hormone stimulation test\n", + " definition of HP:0033080 (Abnormal TSH response to thyrotrophin-releasing hormone stimulation test)\n", + " \n", + " \n", + " Thyrotrophin-releasing hormone (TRH) is a hypothalamic tripeptide synthesized by, stored within, and released from the hypothalamus. It stimulates the synthesis and release of thyroid-stimulating hormone (TSH) from the anterior pituitary gland. Following administration of exogenous TRH, a transient increase in serum TSH is expected. This term refers to an abnormal response in the TRH stimulation test.\n", + " definition of HP:0033080 (Abnormal TSH response to thyrotrophin-releasing hormone stimulation test)\n", + " \n", + " \n", + " #Abnormal TSH response to TRH stimulation test\n", + " definition of HP:0033080 (Abnormal TSH response to thyrotrophin-releasing hormone stimulation test)\n", + " \n", + " \n", + " Anti-NR2A antibody positivity\n", + " definition of HP:6000347 (Anti-NR2A antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the N-Methyl-D-aspartate (NMDA) receptor NR2A subunit.\n", + " definition of HP:6000347 (Anti-NR2A antibody positivity)\n", + " \n", + " \n", + " Nevus spilus\n", + " definition of HP:0025510 (Nevus spilus)\n", + " \n", + " \n", + " A tan, regularly bordered patch with darker macules within the lesion.\n", + " definition of HP:0025510 (Nevus spilus)\n", + " \n", + " \n", + " #Speckled lentiginous Nevus\n", + " definition of HP:0025510 (Nevus spilus)\n", + " \n", + " \n", + " Skull asymmetry\n", + " definition of HP:0002678 (Skull asymmetry)\n", + " \n", + " \n", + " #Asymmetry of skull #Skull asymmetry\n", + " definition of HP:0002678 (Skull asymmetry)\n", + " \n", + " \n", + " Radiation into right arm\n", + " definition of HP:0430045 (Radiation into right arm)\n", + " \n", + " \n", + " Refers to pain or discomfort that is perceived to travel from the chest into the right arm.\n", + " definition of HP:0430045 (Radiation into right arm)\n", + " \n", + " \n", + " Asterixis\n", + " definition of HP:0012164 (Asterixis)\n", + " \n", + " \n", + " A clinical sign indicating a lapse of posture and is usually manifest by a bilateral flapping tremor at the wrist, metacarpophalangeal, and hip joints.\n", + " definition of HP:0012164 (Asterixis)\n", + " \n", + " \n", + " Multifocal epileptiform discharges\n", + " definition of HP:0010841 (Multifocal epileptiform discharges)\n", + " \n", + " \n", + " An abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) and being identified at multiple locations (foci).\n", + " definition of HP:0010841 (Multifocal epileptiform discharges)\n", + " \n", + " \n", + " #Multifocal EEG abnormality\n", + " definition of HP:0010841 (Multifocal epileptiform discharges)\n", + " \n", + " \n", + " Polyclonal elevation of circulating IgA\n", + " definition of HP:0032333 (Polyclonal elevation of circulating IgA)\n", + " \n", + " \n", + " A heterogeneous increase in IgA mmunoglobulins characterized by a diffuse band on serum electrophoresis.\n", + " definition of HP:0032333 (Polyclonal elevation of circulating IgA)\n", + " \n", + " \n", + " Aphalangy of hands and feet\n", + " definition of HP:0200113 (Aphalangy of hands and feet)\n", + " \n", + " \n", + " Hyperautofluorescent macular lesion\n", + " definition of HP:0030631 (Hyperautofluorescent macular lesion)\n", + " \n", + " \n", + " Increased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging.\n", + " definition of HP:0030631 (Hyperautofluorescent macular lesion)\n", + " \n", + " \n", + " Staring gaze\n", + " definition of HP:0025401 (Staring gaze)\n", + " \n", + " \n", + " An abnormality in which the eyes are held permanently wide open.\n", + " definition of HP:0025401 (Staring gaze)\n", + " \n", + " \n", + " #Episodes of staring #Staring episodes #Staring eyes\n", + " definition of HP:0025401 (Staring gaze)\n", + " \n", + " \n", + " Intrapartum fever\n", + " definition of HP:0030245 (Intrapartum fever)\n", + " \n", + " \n", + " The occurrence of maternal fever during labor.\n", + " definition of HP:0030245 (Intrapartum fever)\n", + " \n", + " \n", + " #Maternal fever during labor #Maternal fever during labour\n", + " definition of HP:0030245 (Intrapartum fever)\n", + " \n", + " \n", + " Increased QRS voltage\n", + " definition of HP:0025075 (Increased QRS voltage)\n", + " \n", + " \n", + " Elevation of the voltage (height) of the QRS complex. There are several criteria in use, but the most common is the Sokolov-Lyon criterion (S wave depth in V1 + tallest R wave height in V5-V6 greater than 35 mm).\n", + " definition of HP:0025075 (Increased QRS voltage)\n", + " \n", + " \n", + " Thalamic edema\n", + " definition of HP:0025040 (Thalamic edema)\n", + " \n", + " \n", + " Swelling within the thalamus due to the accumulation of fluid.\n", + " definition of HP:0025040 (Thalamic edema)\n", + " \n", + " \n", + " #Edema of the thalamus #Oedema of the thalamus #Thalamic edema\n", + " definition of HP:0025040 (Thalamic edema)\n", + " \n", + " \n", + " Bloodstream trypomastigotes\n", + " definition of HP:0034524 (Bloodstream trypomastigotes)\n", + " \n", + " \n", + " Presence of trypomastigote parasites in the blood stream. This finding can be demonstrated by the identification of trypomastigote parasites on peripheral blood smear.\n", + " definition of HP:0034524 (Bloodstream trypomastigotes)\n", + " \n", + " \n", + " Dacryocytosis\n", + " definition of HP:0032563 (Dacryocytosis)\n", + " \n", + " \n", + " Presence of teardrop-shaped red blood cells.\n", + " definition of HP:0032563 (Dacryocytosis)\n", + " \n", + " \n", + " #Dacryocytes #Tear-drop shaped erythrocytes\n", + " definition of HP:0032563 (Dacryocytosis)\n", + " \n", + " \n", + " Vertebral hypoplasia\n", + " definition of HP:0008417 (Vertebral hypoplasia)\n", + " \n", + " \n", + " Small, underdeveloped vertebral bodies.\n", + " definition of HP:0008417 (Vertebral hypoplasia)\n", + " \n", + " \n", + " #Underdeveloped vertebrae\n", + " definition of HP:0008417 (Vertebral hypoplasia)\n", + " \n", + " \n", + " Pulmonary aterial intimal fibrosis\n", + " definition of HP:0005312 (Pulmonary aterial intimal fibrosis)\n", + " \n", + " \n", + " Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries in the pulmonary circulation.\n", + " definition of HP:0005312 (Pulmonary aterial intimal fibrosis)\n", + " \n", + " \n", + " Increased proportion of naive T cells\n", + " definition of HP:0031398 (Increased proportion of naive T cells)\n", + " \n", + " \n", + " An abnormally increased proportion of naive T cells relative to the total number of T cells.\n", + " definition of HP:0031398 (Increased proportion of naive T cells)\n", + " \n", + " \n", + " #Elevated proportion of naive T cells #Increased proportion of naive thymus-derived, alpha-beta T cells\n", + " definition of HP:0031398 (Increased proportion of naive T cells)\n", + " \n", + " \n", + " Minicore myopathy\n", + " definition of HP:0003789 (Minicore myopathy)\n", + " \n", + " \n", + " Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in muscle fibers.\n", + " definition of HP:0003789 (Minicore myopathy)\n", + " \n", + " \n", + " Slow saccadic eye movements\n", + " definition of HP:0000514 (Slow saccadic eye movements)\n", + " \n", + " \n", + " An abnormally slow velocity of the saccadic eye movements.\n", + " definition of HP:0000514 (Slow saccadic eye movements)\n", + " \n", + " \n", + " #Slow eye movements #Slow saccades #Slow visual tracking\n", + " definition of HP:0000514 (Slow saccadic eye movements)\n", + " \n", + " \n", + " Aspartylglucosaminuria\n", + " definition of HP:0012068 (Aspartylglucosaminuria)\n", + " \n", + " \n", + " Excretion of excess amounts of aspartylglucosamine in the urine.\n", + " definition of HP:0012068 (Aspartylglucosaminuria)\n", + " \n", + " \n", + " #High urine aspartylglucosamine levels\n", + " definition of HP:0012068 (Aspartylglucosaminuria)\n", + " \n", + " \n", + " Elevated circulating tumor necrosis factor alpha concentration\n", + " definition of HP:6000239 (Elevated circulating tumor necrosis factor alpha concentration)\n", + " \n", + " \n", + " The concentration of tumor necrosis factor alpha in the blood circulation is above the upper limit of normal.\n", + " definition of HP:6000239 (Elevated circulating tumor necrosis factor alpha concentration)\n", + " \n", + " \n", + " Renal arteriole intimal/medial multilamellation\n", + " definition of HP:0033926 (Renal arteriole intimal/medial multilamellation)\n", + " \n", + " \n", + " Myointimal hyperplasia arranged in multiple concentric layers in the inner or middle layer of the arterioles of the kidney.\n", + " definition of HP:0033926 (Renal arteriole intimal/medial multilamellation)\n", + " \n", + " \n", + " #Multilamellation (onion skinning) within renal arteriole intima/media #Renal arteriole intima/media multilamellation #Renal arteriole intimal/medial onion skinning\n", + " definition of HP:0033926 (Renal arteriole intimal/medial multilamellation)\n", + " \n", + " \n", + " Abnormality of immune system physiology\n", + " definition of HP:0010978 (Abnormality of immune system physiology)\n", + " \n", + " \n", + " A functional abnormality of the immune system.\n", + " definition of HP:0010978 (Abnormality of immune system physiology)\n", + " \n", + " \n", + " Increased glucose-6-phosphate dehydrogenase level in red blood cells\n", + " definition of HP:0410189 (Increased glucose-6-phosphate dehydrogenase level in red blood cells)\n", + " \n", + " \n", + " An increase in the level of glucose-6-phosphate dehydrogenase in red blood cells.\n", + " definition of HP:0410189 (Increased glucose-6-phosphate dehydrogenase level in red blood cells)\n", + " \n", + " \n", + " #Increased G6PD level in RBCs #Increased G6PD level in red blood cells\n", + " definition of HP:0410189 (Increased glucose-6-phosphate dehydrogenase level in red blood cells)\n", + " \n", + " \n", + " Congenital macroorchidism\n", + " definition of HP:0008640 (Congenital macroorchidism)\n", + " \n", + " \n", + " Flank pain\n", + " definition of HP:0030157 (Flank pain)\n", + " \n", + " \n", + " An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the flank.\n", + " definition of HP:0030157 (Flank pain)\n", + " \n", + " \n", + " #Flank pain\n", + " definition of HP:0030157 (Flank pain)\n", + " \n", + " \n", + " Transient aminoaciduria\n", + " definition of HP:0008273 (Transient aminoaciduria)\n", + " \n", + " \n", + " Pelvic girdle amyotrophy\n", + " definition of HP:0008946 (Pelvic girdle amyotrophy)\n", + " \n", + " \n", + " Atrophy of the muscles of the pelvic girdle (also known as hip girdle), i.e., the gluteal muscles, the lateral rotators, the adductors, the psoas major and the iliacus muscle.\n", + " definition of HP:0008946 (Pelvic girdle amyotrophy)\n", + " \n", + " \n", + " #Hip girdle amyotrophy\n", + " definition of HP:0008946 (Pelvic girdle amyotrophy)\n", + " \n", + " \n", + " Anterior chamber flare grade 2+\n", + " definition of HP:0031619 (Anterior chamber flare grade 2+)\n", + " \n", + " \n", + " Moderate anterior chamber flare (iris and lens details clear).\n", + " definition of HP:0031619 (Anterior chamber flare grade 2+)\n", + " \n", + " \n", + " Abnormal lacrimal sac morphology\n", + " definition of HP:3000066 (Abnormal lacrimal sac morphology)\n", + " \n", + " \n", + " An abnormality of a lacrimal sac.\n", + " definition of HP:3000066 (Abnormal lacrimal sac morphology)\n", + " \n", + " \n", + " #Abnormality of lacrimal sac\n", + " definition of HP:3000066 (Abnormal lacrimal sac morphology)\n", + " \n", + " \n", + " Reduced fibroblast type III procollagen synthesis\n", + " definition of HP:0034528 (Reduced fibroblast type III procollagen synthesis)\n", + " \n", + " \n", + " Diminished production of type III procollagen by cultured skin fibroblasts.\n", + " definition of HP:0034528 (Reduced fibroblast type III procollagen synthesis)\n", + " \n", + " \n", + " #Type III procollagen synthesis by fibroblasts low\n", + " definition of HP:0034528 (Reduced fibroblast type III procollagen synthesis)\n", + " \n", + " \n", + " Retroperitoneal fibrosis\n", + " definition of HP:0005200 (Retroperitoneal fibrosis)\n", + " \n", + " \n", + " Elevated circulating alpha-L-fucosidase activity\n", + " definition of HP:0034729 (Elevated circulating alpha-L-fucosidase activity)\n", + " \n", + " \n", + " Activity of the enzyme alpha-L-fucosidase above the upper limit of normal.\n", + " definition of HP:0034729 (Elevated circulating alpha-L-fucosidase activity)\n", + " \n", + " \n", + " Abnormal von Willebrand factor multimer distribution\n", + " definition of HP:0030131 (Abnormal von Willebrand factor multimer distribution)\n", + " \n", + " \n", + " Deviation from the normal von Willebrand factor multimer pattern.\n", + " definition of HP:0030131 (Abnormal von Willebrand factor multimer distribution)\n", + " \n", + " \n", + " Anti-side-chain cleavage enzyme antibody positivity\n", + " definition of HP:0034055 (Anti-side-chain cleavage enzyme antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against cytochrome P450 cholesterol side-chain cleavage enzyme (P450scc), which is encoded by CYP11A1 cytochrome P450 family 11 subfamily A member 1 (Gene ID:1583).\n", + " definition of HP:0034055 (Anti-side-chain cleavage enzyme antibody positivity)\n", + " \n", + " \n", + " #Anti-P450scc\n", + " definition of HP:0034055 (Anti-side-chain cleavage enzyme antibody positivity)\n", + " \n", + " \n", + " Anti-GlyR antibody\n", + " definition of HP:5000014 (Anti-GlyR antibody)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Glycine receptor (GlyR).\n", + " definition of HP:5000014 (Anti-GlyR antibody)\n", + " \n", + " \n", + " #Anti-glycine receptor antibody\n", + " definition of HP:5000014 (Anti-GlyR antibody)\n", + " \n", + " \n", + " Dilatation of an abdominal artery\n", + " definition of HP:0002636 (Dilatation of an abdominal artery)\n", + " \n", + " \n", + " Abnormal outpouching or sac-like dilatation in an artery that originates from the abdominal aorta.\n", + " definition of HP:0002636 (Dilatation of an abdominal artery)\n", + " \n", + " \n", + " Abnormal pyramidal tract morphology\n", + " definition of HP:0002062 (Abnormal pyramidal tract morphology)\n", + " \n", + " \n", + " Any structural abnormality of the pyramidal tract, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts.\n", + " definition of HP:0002062 (Abnormal pyramidal tract morphology)\n", + " \n", + " \n", + " #Abnormality of the pyramidal tracts #Morphological abnormality of the pyramidal tract\n", + " definition of HP:0002062 (Abnormal pyramidal tract morphology)\n", + " \n", + " \n", + " Mild constriction of peripheral visual field\n", + " definition of HP:0030522 (Mild constriction of peripheral visual field)\n", + " \n", + " \n", + " A diminution of the peripheral visual field whereby at least 50 degrees of central field are preserved in all meridians.\n", + " definition of HP:0030522 (Mild constriction of peripheral visual field)\n", + " \n", + " \n", + " #Mild peripheral visual field loss\n", + " definition of HP:0030522 (Mild constriction of peripheral visual field)\n", + " \n", + " \n", + " Intertriginous distribution\n", + " definition of HP:0034432 (Intertriginous distribution)\n", + " \n", + " \n", + " Applies to the localization of a skin lesion involving any area of the body where two opposing skin surfaces can touch and rub or chaff.\n", + " definition of HP:0034432 (Intertriginous distribution)\n", + " \n", + " \n", + " #Intertriginous distribution of skin lesions\n", + " definition of HP:0034432 (Intertriginous distribution)\n", + " \n", + " \n", + " Increased number of lymph nodes\n", + " definition of HP:0032536 (Increased number of lymph nodes)\n", + " \n", + " \n", + " An abnormally elevated number of lymph nodes in an anatomical region.\n", + " definition of HP:0032536 (Increased number of lymph nodes)\n", + " \n", + " \n", + " Low frustration tolerance\n", + " definition of HP:0000744 (Low frustration tolerance)\n", + " \n", + " \n", + " The feeling of frustration can be defined as an emotional reaction that occurs when a desired goal is not achieved. Frustration intolerance is defined as an age-inappropriate response to frustration, characterized by crying or temper tantrums in children, or aggressive or other undesirable behaviors.\n", + " definition of HP:0000744 (Low frustration tolerance)\n", + " \n", + " \n", + " #Intolerance to frustration\n", + " definition of HP:0000744 (Low frustration tolerance)\n", + " \n", + " \n", + " Addictive nicotine use\n", + " definition of HP:0033543 (Addictive nicotine use)\n", + " \n", + " \n", + " Nicotine addiction can be defined as a chronic, compulsive craving for nicotine and continued usage despite harmful consequences.\n", + " definition of HP:0033543 (Addictive nicotine use)\n", + " \n", + " \n", + " #Addictive tobacco use #Nicotine dependence\n", + " definition of HP:0033543 (Addictive nicotine use)\n", + " \n", + " \n", + " Neutrophilic urticarial dermatosis\n", + " definition of HP:0033167 (Neutrophilic urticarial dermatosis)\n", + " \n", + " \n", + " A neutrophilic interstitial, perivascular and/or perieccrine infiltrate with leukocytoclasia. Notably, leukocytoclastic vasculitis is not present.\n", + " definition of HP:0033167 (Neutrophilic urticarial dermatosis)\n", + " \n", + " \n", + " Positive bloodstream Coxsackievirus nucleic acid pathogen test\n", + " definition of HP:6000908 (Positive bloodstream Coxsackievirus nucleic acid pathogen test)\n", + " \n", + " \n", + " Detection of nucleic acid of Coxsackievirus in the blood circulation by a method such as polymerase chain reaction (PCR).\n", + " definition of HP:6000908 (Positive bloodstream Coxsackievirus nucleic acid pathogen test)\n", + " \n", + " \n", + " Multinucleation of renal tubular epithelial cells\n", + " definition of HP:0032601 (Multinucleation of renal tubular epithelial cells)\n", + " \n", + " \n", + " Tubular epithelial cells with greater than 3 nuclei in a single epithelial cell, often overlapping with each other in a single plane of view.\n", + " definition of HP:0032601 (Multinucleation of renal tubular epithelial cells)\n", + " \n", + " \n", + " Abnormal endocrine morphology\n", + " definition of HP:0031071 (Abnormal endocrine morphology)\n", + " \n", + " \n", + " Any anomaly of the structure of an organ ofthe endocrine system.\n", + " definition of HP:0031071 (Abnormal endocrine morphology)\n", + " \n", + " \n", + " Abnormality of T cell physiology\n", + " definition of HP:0011840 (Abnormality of T cell physiology)\n", + " \n", + " \n", + " A functional anomaly of T cells.\n", + " definition of HP:0011840 (Abnormality of T cell physiology)\n", + " \n", + " \n", + " Limb apraxia\n", + " definition of HP:0030217 (Limb apraxia)\n", + " \n", + " \n", + " Difficulty in performing the correct execution of limbs movements in absence of motor impairment.\n", + " definition of HP:0030217 (Limb apraxia)\n", + " \n", + " \n", + " Abnormality of the proximal phalanx of the 5th finger\n", + " definition of HP:0009150 (Abnormality of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " Abnormality of the proximal phalanx of the little (5th) finger.\n", + " definition of HP:0009150 (Abnormality of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " #Abnormality of the innermost bone little finger #Abnormality of the innermost bone pinkie finger #Abnormality of the innermost bone pinky finger\n", + " definition of HP:0009150 (Abnormality of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " Iliac vein compression\n", + " definition of HP:6001099 (Iliac vein compression)\n", + " \n", + " \n", + " Compression of the common iliac vein against the spine by the contralateral common iliac artery.\n", + " definition of HP:6001099 (Iliac vein compression)\n", + " \n", + " \n", + " Rigidity\n", + " definition of HP:0002063 (Rigidity)\n", + " \n", + " \n", + " Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.\n", + " definition of HP:0002063 (Rigidity)\n", + " \n", + " \n", + " #Muscle rigidity #Rigidity\n", + " definition of HP:0002063 (Rigidity)\n", + " \n", + " \n", + " Glial remnants posterior to lens\n", + " definition of HP:0030742 (Glial remnants posterior to lens)\n", + " \n", + " \n", + " This anomaly, also known as Mittendorf dot, is a benign, nonprogressive recognizable lesion that does not cause visual impairment. However, it can resemble a pathological congenital or acquired cataract lesion which may enlarge and cause visual impairment. The dot appears as a black speck that ranges in size from the dot made by a sharp pencil point to the size of a poppy seed. It is usually well defined, although occasionally there may be irregular, fine lines radiating outward from the dot.\n", + " definition of HP:0030742 (Glial remnants posterior to lens)\n", + " \n", + " \n", + " #Mittendorf dot\n", + " definition of HP:0030742 (Glial remnants posterior to lens)\n", + " \n", + " \n", + " Abnormal chromosome morphology\n", + " definition of HP:0031411 (Abnormal chromosome morphology)\n", + " \n", + " \n", + " Any structural anomaly of a chromosome, which is a thread like molecule consisting of DNA and proteins (chromatin) that contains DNA sequences for genes and other genetic elements in linear order.\n", + " definition of HP:0031411 (Abnormal chromosome morphology)\n", + " \n", + " \n", + " Zygotic cleavage failure\n", + " definition of HP:0033336 (Zygotic cleavage failure)\n", + " \n", + " \n", + " Failure of a fertilized oocyte to undergo the first round of cell division.\n", + " definition of HP:0033336 (Zygotic cleavage failure)\n", + " \n", + " \n", + " #Failure of zygotic cell division\n", + " definition of HP:0033336 (Zygotic cleavage failure)\n", + " \n", + " \n", + " Occipital meningocele\n", + " definition of HP:0002436 (Occipital meningocele)\n", + " \n", + " \n", + " A herniation of meninges through a congenital bone defect in the skull in the occipital region.\n", + " definition of HP:0002436 (Occipital meningocele)\n", + " \n", + " \n", + " Supernumerary tooth\n", + " definition of HP:0011069 (Supernumerary tooth)\n", + " \n", + " \n", + " The presence of one or more teeth additional to the normal number.\n", + " definition of HP:0011069 (Supernumerary tooth)\n", + " \n", + " \n", + " #Extra teeth #Hyperdontia #Increased number of teeth #Increased tooth count #Supernumerary teeth #Supplemental dentition #Supplemental teeth #Tooth, supernumerary\n", + " definition of HP:0011069 (Supernumerary tooth)\n", + " \n", + " \n", + " Cone-shaped epiphysis of the distal phalanx of the 5th finger\n", + " definition of HP:0004222 (Cone-shaped epiphysis of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " A cone-shaped appearance of the epiphysis of the distal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.\n", + " definition of HP:0004222 (Cone-shaped epiphysis of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " #Cone-shaped end part of the outermost little finger bone #Cone-shaped end part of the outermost pinkie finger bone #Cone-shaped end part of the outermost pinky finger bone #Cone-shaped epiphysis of the distal phalanx of the little finger\n", + " definition of HP:0004222 (Cone-shaped epiphysis of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " Abnormal pectoral muscle morphology\n", + " definition of HP:0011957 (Abnormal pectoral muscle morphology)\n", + " \n", + " \n", + " An abnormality of the pectoral muscle, comprising the pectoralis major, a thick, fan-shaped muscle of the anterior chest and the pectoralis minor, a thin, triangular muscle situated underneath the pectoralis major.\n", + " definition of HP:0011957 (Abnormal pectoral muscle morphology)\n", + " \n", + " \n", + " #Abnormal pec muscles\n", + " definition of HP:0011957 (Abnormal pectoral muscle morphology)\n", + " \n", + " \n", + " Axillary pterygium\n", + " definition of HP:0001060 (Axillary pterygium)\n", + " \n", + " \n", + " Presence of a cutaneous membrane (flap) in the armpit.\n", + " definition of HP:0001060 (Axillary pterygium)\n", + " \n", + " \n", + " #Axillary pterygia\n", + " definition of HP:0001060 (Axillary pterygium)\n", + " \n", + " \n", + " Best corrected visual acuity 0.5 LogMAR\n", + " definition of HP:0030558 (Best corrected visual acuity 0.5 LogMAR)\n", + " \n", + " \n", + " Limited horizontal extraocular movement\n", + " definition of HP:0025720 (Limited horizontal extraocular movement)\n", + " \n", + " \n", + " Limited mobility of the eye to move from side to side (horizontally) within its socket.\n", + " definition of HP:0025720 (Limited horizontal extraocular movement)\n", + " \n", + " \n", + " Fractured proximal phalanx of digit 4\n", + " definition of HP:0041213 (Fractured proximal phalanx of digit 4)\n", + " \n", + " \n", + " A partial or complete breakage of the proximal phalanx of digit 4.\n", + " definition of HP:0041213 (Fractured proximal phalanx of digit 4)\n", + " \n", + " \n", + " #bone proximal phalanx of digit 4\n", + " definition of HP:0041213 (Fractured proximal phalanx of digit 4)\n", + " \n", + " \n", + " Triangular epiphysis of the distal phalanx of the 3rd toe\n", + " definition of HP:0100145 (Triangular epiphysis of the distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Triangular end part of the outermost bone of the 3rd toe\n", + " definition of HP:0100145 (Triangular epiphysis of the distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Tubulointerstitial nephritis\n", + " definition of HP:0001970 (Tubulointerstitial nephritis)\n", + " \n", + " \n", + " A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.\n", + " definition of HP:0001970 (Tubulointerstitial nephritis)\n", + " \n", + " \n", + " #Interstitial nephritis #Nephritis, Tubulointerstitial\n", + " definition of HP:0001970 (Tubulointerstitial nephritis)\n", + " \n", + " \n", + " Abnormal shape of the radius\n", + " definition of HP:0045008 (Abnormal shape of the radius)\n", + " \n", + " \n", + " Lumbar kyphosis in infancy\n", + " definition of HP:0008414 (Lumbar kyphosis in infancy)\n", + " \n", + " \n", + " #Hunched back in infancy #Round back in infancy\n", + " definition of HP:0008414 (Lumbar kyphosis in infancy)\n", + " \n", + " \n", + " Oppositional defiant disorder\n", + " definition of HP:0010865 (Oppositional defiant disorder)\n", + " \n", + " \n", + " An enduring pattern of uncooperative, defiant, and hostile behavior towards authority figures that does not involve major antisocial violations, is not accounted for by the child's developmental stage, and results in significant functional impairment. A certain level of oppositional behavior is common in children and adolescents.\n", + " definition of HP:0010865 (Oppositional defiant disorder)\n", + " \n", + " \n", + " #ODD\n", + " definition of HP:0010865 (Oppositional defiant disorder)\n", + " \n", + " \n", + " Increased basal tear production\n", + " definition of HP:0031732 (Increased basal tear production)\n", + " \n", + " \n", + " A form of watery eye associated with overproduction of tears due to an increased parasympathetic drive to the secretory component of the lacrimal system (lacrimal gland); this could be due to pro-secretory drug use (e.g. pilocarpine) or autonomic disturbance.\n", + " definition of HP:0031732 (Increased basal tear production)\n", + " \n", + " \n", + " Lumbar hyperlordosis\n", + " definition of HP:0002938 (Lumbar hyperlordosis)\n", + " \n", + " \n", + " An abnormal accentuation of the inward curvature of the spine in the lumbar region.\n", + " definition of HP:0002938 (Lumbar hyperlordosis)\n", + " \n", + " \n", + " #Exaggerated lumbar lordosis #Excessive inward curvature of lower spine #Increased lumbar lordosis #Lumbar lordosis #Prominent lumbar lordosis\n", + " definition of HP:0002938 (Lumbar hyperlordosis)\n", + " \n", + " \n", + " Impaired oropharyngeal swallow response\n", + " definition of HP:0031162 (Impaired oropharyngeal swallow response)\n", + " \n", + " \n", + " Delay or absence of the swallow response, reflexes triggered by the contact the food bolus makes with the anterior faucial pillars.\n", + " definition of HP:0031162 (Impaired oropharyngeal swallow response)\n", + " \n", + " \n", + " Growth delay\n", + " definition of HP:0001510 (Growth delay)\n", + " \n", + " \n", + " A deficiency or slowing down of growth pre- and postnatally.\n", + " definition of HP:0001510 (Growth delay)\n", + " \n", + " \n", + " #Delayed growth #Growth deficiency #Growth delay #Growth failure #Growth retardation #Poor growth #Retarded growth\n", + " definition of HP:0001510 (Growth delay)\n", + " \n", + " \n", + " Hypoplasia of the midbrain\n", + " definition of HP:0034259 (Hypoplasia of the midbrain)\n", + " \n", + " \n", + " A developmental defect characterized by underdevelopment of the mesencephalon.\n", + " definition of HP:0034259 (Hypoplasia of the midbrain)\n", + " \n", + " \n", + " #Hypoplasia of the mesencephalon #Hypoplastic mesencephalon\n", + " definition of HP:0034259 (Hypoplasia of the midbrain)\n", + " \n", + " \n", + " Abnormal morphology of the abdominal musculature\n", + " definition of HP:0010991 (Abnormal morphology of the abdominal musculature)\n", + " \n", + " \n", + " An abnormality of the abdominal musculature.\n", + " definition of HP:0010991 (Abnormal morphology of the abdominal musculature)\n", + " \n", + " \n", + " #Abnormality of the abdominal musculature\n", + " definition of HP:0010991 (Abnormal morphology of the abdominal musculature)\n", + " \n", + " \n", + " Enlarged peripheral nerve\n", + " definition of HP:0012645 (Enlarged peripheral nerve)\n", + " \n", + " \n", + " Increase in size of a peripheral nerve. This finding can be appreciated by palpation along the axis of the nerve.\n", + " definition of HP:0012645 (Enlarged peripheral nerve)\n", + " \n", + " \n", + " Radial deviation of the 3rd finger\n", + " definition of HP:0009462 (Radial deviation of the 3rd finger)\n", + " \n", + " \n", + " Displacement of the 3rd finger towards the radial side (i.e., towards the thumb).\n", + " definition of HP:0009462 (Radial deviation of the 3rd finger)\n", + " \n", + " \n", + " #Inward turned middle finger\n", + " definition of HP:0009462 (Radial deviation of the 3rd finger)\n", + " \n", + " \n", + " Hereditary nonpolyposis colorectal carcinoma\n", + " definition of HP:0006716 (Hereditary nonpolyposis colorectal carcinoma)\n", + " \n", + " \n", + " Thoracocervical ectopia cordis\n", + " definition of HP:0011584 (Thoracocervical ectopia cordis)\n", + " \n", + " \n", + " A type of ectopia cordis with the heart partially in the cervical region with a defect of the superior portion of the sternum.\n", + " definition of HP:0011584 (Thoracocervical ectopia cordis)\n", + " \n", + " \n", + " Osteochondromyxoma\n", + " definition of HP:0034951 (Osteochondromyxoma)\n", + " \n", + " \n", + " A rare benign chondroid and osteoid matrix-producing neoplasm of bone characterized by extensive myxoid changes. OMX originate from bony cortices and have been observed in the nasal region, as well as the tibia and radius.\n", + " definition of HP:0034951 (Osteochondromyxoma)\n", + " \n", + " \n", + " Delay in the acquisition of cooperative play skills\n", + " definition of HP:5200135 (Delay in the acquisition of cooperative play skills)\n", + " \n", + " \n", + " Failure to acquire the ability to play cooperatively, a type of play in whichchildren work together towards a common goal and in which a child displays interest both in the play and in the the other child or children involved in playing. This ability is observed in neurotypical children from the age of 3 to 6 years.\n", + " definition of HP:5200135 (Delay in the acquisition of cooperative play skills)\n", + " \n", + " \n", + " Fragmentation of thumb epiphysis\n", + " definition of HP:0009690 (Fragmentation of thumb epiphysis)\n", + " \n", + " \n", + " Epiphysis of the thumb having multiple bony fragments.\n", + " definition of HP:0009690 (Fragmentation of thumb epiphysis)\n", + " \n", + " \n", + " #Fragmentation of end part of long bone of thumb #Fragmentation of the epiphyses of the thumb\n", + " definition of HP:0009690 (Fragmentation of thumb epiphysis)\n", + " \n", + " \n", + " Abnormally increased volition\n", + " definition of HP:5200263 (Abnormally increased volition)\n", + " \n", + " \n", + " An excessive increase in motivated and goal directed as well as non-goal directed behaviors that are usually accompanied by elevated energy and interest that allows individuals to get started, be energized to perform a sustained and directed action. The increase is often disruptive and typically results in unfavorable consequences.\n", + " definition of HP:5200263 (Abnormally increased volition)\n", + " \n", + " \n", + " #Abnormally increased energy #Abnormally increased motivation #Abnormally increased personal volitional state\n", + " definition of HP:5200263 (Abnormally increased volition)\n", + " \n", + " \n", + " Prominent tragus\n", + " definition of HP:0011271 (Prominent tragus)\n", + " \n", + " \n", + " Increase posterolateral protrusion of the tragus.\n", + " definition of HP:0011271 (Prominent tragus)\n", + " \n", + " \n", + " #Enlarged tragus #Hyperplastic tragus #Hypertrophic tragus #Large tragus #Tragus, prominent\n", + " definition of HP:0011271 (Prominent tragus)\n", + " \n", + " \n", + " Glial remnants anterior to the optic disc\n", + " definition of HP:0030743 (Glial remnants anterior to the optic disc)\n", + " \n", + " \n", + " Persistence of a posterior remnant of the hyaloid artery located at the optic disc.\n", + " definition of HP:0030743 (Glial remnants anterior to the optic disc)\n", + " \n", + " \n", + " #Bergmeister papilla\n", + " definition of HP:0030743 (Glial remnants anterior to the optic disc)\n", + " \n", + " \n", + " Optic nerve misrouting\n", + " definition of HP:0025551 (Optic nerve misrouting)\n", + " \n", + " \n", + " Abnormal decussation of the visual pathways, typically identified using visual evoked potentials (VEP) (asymmetrical distribution of the VEP over the posterior scalp).\n", + " definition of HP:0025551 (Optic nerve misrouting)\n", + " \n", + " \n", + " #Optic pathway misrouting #Visual pathway misrouting\n", + " definition of HP:0025551 (Optic nerve misrouting)\n", + " \n", + " \n", + " Dermatoglyphic ridges abnormal\n", + " definition of HP:0005689 (Dermatoglyphic ridges abnormal)\n", + " \n", + " \n", + " Increased circulating interleukin 22 concentration\n", + " definition of HP:0034169 (Increased circulating interleukin 22 concentration)\n", + " \n", + " \n", + " An abnormally increased concentration of interleukin 22 in the blood circulation.\n", + " definition of HP:0034169 (Increased circulating interleukin 22 concentration)\n", + " \n", + " \n", + " Abnormality of superior crus of antihelix\n", + " definition of HP:0011245 (Abnormality of superior crus of antihelix)\n", + " \n", + " \n", + " An abnormality of the superior crus of the antihelix is the upper cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa.\n", + " definition of HP:0011245 (Abnormality of superior crus of antihelix)\n", + " \n", + " \n", + " #Abnormality of posterior crus of antihelix\n", + " definition of HP:0011245 (Abnormality of superior crus of antihelix)\n", + " \n", + " \n", + " Abnormality of the chin\n", + " definition of HP:0000306 (Abnormality of the chin)\n", + " \n", + " \n", + " An abnormality of the chin, i.e., of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw.\n", + " definition of HP:0000306 (Abnormality of the chin)\n", + " \n", + " \n", + " #Abnormality of the chin\n", + " definition of HP:0000306 (Abnormality of the chin)\n", + " \n", + " \n", + " Curved thumb phalanx\n", + " definition of HP:0009653 (Curved thumb phalanx)\n", + " \n", + " \n", + " A deviation from the normal straight shape of a thumb phalanx.\n", + " definition of HP:0009653 (Curved thumb phalanx)\n", + " \n", + " \n", + " #Curved phalanges of the thumb #Curved thumb bone\n", + " definition of HP:0009653 (Curved thumb phalanx)\n", + " \n", + " \n", + " Renal vein thrombosis\n", + " definition of HP:0034239 (Renal vein thrombosis)\n", + " \n", + " \n", + " The presence of a thrombus (blood clot) in the major renal veins or its tributaries, generally leading to passive congestion that develops causes the affected kidney to swell and become engorged, leading to degeneration of nephrons and causing symptoms of flank pain, hematuria, and decreased urine output.\n", + " definition of HP:0034239 (Renal vein thrombosis)\n", + " \n", + " \n", + " Electron transfer flavoprotein-ubiquinone oxidoreductase defect\n", + " definition of HP:0003647 (Electron transfer flavoprotein-ubiquinone oxidoreductase defect)\n", + " \n", + " \n", + " A deficiency of the electron transfer flavoprotein-ubiquinone oxidoreductase.\n", + " definition of HP:0003647 (Electron transfer flavoprotein-ubiquinone oxidoreductase defect)\n", + " \n", + " \n", + " Cardiac fibroma\n", + " definition of HP:0010617 (Cardiac fibroma)\n", + " \n", + " \n", + " A fibroma of the heart.\n", + " definition of HP:0010617 (Cardiac fibroma)\n", + " \n", + " \n", + " Pure red cell aplasia\n", + " definition of HP:0012410 (Pure red cell aplasia)\n", + " \n", + " \n", + " A type of anemia resulting from suppression of erythropoiesis with little or no abnormality of leukocyte or platelet production. Erythroblasts are virtually absent in bone marrow; however, leukocyte and platelet production show little or no reduction.\n", + " definition of HP:0012410 (Pure red cell aplasia)\n", + " \n", + " \n", + " #Red cell aplasia\n", + " definition of HP:0012410 (Pure red cell aplasia)\n", + " \n", + " \n", + " Triangular shaped proximal phalanx of the thumb\n", + " definition of HP:0009636 (Triangular shaped proximal phalanx of the thumb)\n", + " \n", + " \n", + " Triangular shaped proximal phalanx of the thumb.\n", + " definition of HP:0009636 (Triangular shaped proximal phalanx of the thumb)\n", + " \n", + " \n", + " #Triangular innermost thumb bone #Triangular proximal thumb phalanx\n", + " definition of HP:0009636 (Triangular shaped proximal phalanx of the thumb)\n", + " \n", + " \n", + " Tibiofibular interosseous membrane calcification\n", + " definition of HP:0430035 (Tibiofibular interosseous membrane calcification)\n", + " \n", + " \n", + " Deposition of excess calcium in the interosseous membrane of the leg, which extends between the interosseous crests of the tibia and fibula and separates the anterior and posterior muscles of the lower leg.\n", + " definition of HP:0430035 (Tibiofibular interosseous membrane calcification)\n", + " \n", + " \n", + " #Calcification of the interosseous membrane of leg #Calcification of the middle tibiofibular joint\n", + " definition of HP:0430035 (Tibiofibular interosseous membrane calcification)\n", + " \n", + " \n", + " Antepartum hemorrhage\n", + " definition of HP:0025328 (Antepartum hemorrhage)\n", + " \n", + " \n", + " Significant maternal hemorrhage/bleed in the second half of pregnancy and prior to the birth of the baby.\n", + " definition of HP:0025328 (Antepartum hemorrhage)\n", + " \n", + " \n", + " #Antepartum haemorrhage #Prepartum haemorrhage #Prepartum hemorrhage\n", + " definition of HP:0025328 (Antepartum hemorrhage)\n", + " \n", + " \n", + " Osteoarthritis of the distal interphalangeal joint\n", + " definition of HP:0006233 (Osteoarthritis of the distal interphalangeal joint)\n", + " \n", + " \n", + " Focal impaired awareness vocal automatism seizure\n", + " definition of HP:0032923 (Focal impaired awareness vocal automatism seizure)\n", + " \n", + " \n", + " A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset.\n", + " definition of HP:0032923 (Focal impaired awareness vocal automatism seizure)\n", + " \n", + " \n", + " Generalized convulsive status epilepticus\n", + " definition of HP:0032661 (Generalized convulsive status epilepticus)\n", + " \n", + " \n", + " A type of bilateral convulsive seizure of generalized onset that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus.\n", + " definition of HP:0032661 (Generalized convulsive status epilepticus)\n", + " \n", + " \n", + " #Generalised convulsive status epilepticus\n", + " definition of HP:0032661 (Generalized convulsive status epilepticus)\n", + " \n", + " \n", + " Intestinal polyposis\n", + " definition of HP:0200008 (Intestinal polyposis)\n", + " \n", + " \n", + " The presence of multiple polyps in the intestine.\n", + " definition of HP:0200008 (Intestinal polyposis)\n", + " \n", + " \n", + " #Multiple intestinal polyps\n", + " definition of HP:0200008 (Intestinal polyposis)\n", + " \n", + " \n", + " Tube feeding\n", + " definition of HP:0033454 (Tube feeding)\n", + " \n", + " \n", + " Feeding problem necessitating food and nutrient delivery via a tube.\n", + " definition of HP:0033454 (Tube feeding)\n", + " \n", + " \n", + " Forehead hyperpigmentation\n", + " definition of HP:0005336 (Forehead hyperpigmentation)\n", + " \n", + " \n", + " #Darkening of the forehead\n", + " definition of HP:0005336 (Forehead hyperpigmentation)\n", + " \n", + " \n", + " Tissue ischemia\n", + " definition of HP:0033401 (Tissue ischemia)\n", + " \n", + " \n", + " Ischemia is defined as a restriction of arterial blood supply to a tissue associated with insufficient oxygenation to support the metabolis requirements of the tissue. Depending on the involved tissues, clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis. Additional associated manifestations include hemodynamic parameters (reduced blood pressure distal to the site of restricted arterial supply) and angiographic evidence of arterial occclusion.\n", + " definition of HP:0033401 (Tissue ischemia)\n", + " \n", + " \n", + " Type I cryptotia\n", + " definition of HP:0011253 (Type I cryptotia)\n", + " \n", + " \n", + " A type of cryptotia associated with reduction in size of the antihelix and superior crus.\n", + " definition of HP:0011253 (Type I cryptotia)\n", + " \n", + " \n", + " #Type 1 cryptotia\n", + " definition of HP:0011253 (Type I cryptotia)\n", + " \n", + " \n", + " Irregular epiphysis of the proximal phalanx of the 4th finger\n", + " definition of HP:0009266 (Irregular epiphysis of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 4th finger.\n", + " definition of HP:0009266 (Irregular epiphysis of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " #Irregular end part of the innermost bone of the ring finger\n", + " definition of HP:0009266 (Irregular epiphysis of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " Anti-periplakin antibody positivity\n", + " definition of HP:4000016 (Anti-periplakin antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against periplakin.\n", + " definition of HP:4000016 (Anti-periplakin antibody positivity)\n", + " \n", + " \n", + " Dural ectasia\n", + " definition of HP:0100775 (Dural ectasia)\n", + " \n", + " \n", + " A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level.\n", + " definition of HP:0100775 (Dural ectasia)\n", + " \n", + " \n", + " Pendular nystagmus\n", + " definition of HP:0012043 (Pendular nystagmus)\n", + " \n", + " \n", + " Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction.\n", + " definition of HP:0012043 (Pendular nystagmus)\n", + " \n", + " \n", + " Dopamine antagonist exposure\n", + " definition of HP:0034634 (Dopamine antagonist exposure)\n", + " \n", + " \n", + " History of having been treated with a dopamine antagonist including metaclopramide, phenothiazine; haloperidol, chlorpromazine, promethazine, prochlorperazine, ziprasidone, and quetiapine.\n", + " definition of HP:0034634 (Dopamine antagonist exposure)\n", + " \n", + " \n", + " #Dopamine antagonist treatment history\n", + " definition of HP:0034634 (Dopamine antagonist exposure)\n", + " \n", + " \n", + " Decreased circulating GABA concentration\n", + " definition of HP:0410054 (Decreased circulating GABA concentration)\n", + " \n", + " \n", + " A decrease in the level of GABA in the serum.\n", + " definition of HP:0410054 (Decreased circulating GABA concentration)\n", + " \n", + " \n", + " #Decreased circulating gamma-aminobutyric acid concentration #Decreased level of gamma-aminobutyric acid in serum\n", + " definition of HP:0410054 (Decreased circulating GABA concentration)\n", + " \n", + " \n", + " Increased circulating N-acetylaspartic acid concentration\n", + " definition of HP:0032273 (Increased circulating N-acetylaspartic acid concentration)\n", + " \n", + " \n", + " Concentration of N-acetylaspartic acid in the blood circulation above the upper limit of normal.\n", + " definition of HP:0032273 (Increased circulating N-acetylaspartic acid concentration)\n", + " \n", + " \n", + " #Increased circulating N-acetyl aspartate level #Increased circulating N-acetyl aspartic acid level #Increased circulating N-acetyl-L-aspartic acid level #Increased circulating N-acetylaspartate level #Increased circulating NAA level\n", + " definition of HP:0032273 (Increased circulating N-acetylaspartic acid concentration)\n", + " \n", + " \n", + " Reduced bifunctional protein activity\n", + " definition of HP:4000164 (Reduced bifunctional protein activity)\n", + " \n", + " \n", + " Diminished activity of hydroxysteroid 17-beta dehydrogenase 4 (HSD17B4), also known as D-bifunctional protein (DBP), a peroxisomal enzyme that catalyzes multiple steps of beta-oxidation of very long chain fatty acids.\n", + " definition of HP:4000164 (Reduced bifunctional protein activity)\n", + " \n", + " \n", + " #Reduced 17-beta-hydroxysteroid dehydrogenase 4 activity\n", + " definition of HP:4000164 (Reduced bifunctional protein activity)\n", + " \n", + " \n", + " Developmental regression\n", + " definition of HP:0002376 (Developmental regression)\n", + " \n", + " \n", + " Loss of developmental skills, as manifested by loss of developmental milestones.\n", + " definition of HP:0002376 (Developmental regression)\n", + " \n", + " \n", + " #Loss of acquired milestones #Loss of developmental milestones #Loss of milestones #Mental deterioration in childhood #Neurodevelopmental regression #Psychomotor regression #Psychomotor regression beginning in infancy #Psychomotor regression in infants #Psychomotor regression, progressive\n", + " definition of HP:0002376 (Developmental regression)\n", + " \n", + " \n", + " Reduced amplitude of dark-adapted bright flash electroretinogram a-wave\n", + " definition of HP:0030483 (Reduced amplitude of dark-adapted bright flash electroretinogram a-wave)\n", + " \n", + " \n", + " An abnormal reduction in the amplitude of the a-wave.\n", + " definition of HP:0030483 (Reduced amplitude of dark-adapted bright flash electroretinogram a-wave)\n", + " \n", + " \n", + " Elevated erythrocyte adenosine triphosphate concentration\n", + " definition of HP:4000186 (Elevated erythrocyte adenosine triphosphate concentration)\n", + " \n", + " \n", + " Concentration of adenosine triphosphate (ATP) in red blood cells (erythrocytes) above the upper limit of normal.\n", + " definition of HP:4000186 (Elevated erythrocyte adenosine triphosphate concentration)\n", + " \n", + " \n", + " #Adenosine triphosphate (ATP) high in erythrocytes\n", + " definition of HP:4000186 (Elevated erythrocyte adenosine triphosphate concentration)\n", + " \n", + " \n", + " Corneal stromal edema\n", + " definition of HP:0012040 (Corneal stromal edema)\n", + " \n", + " \n", + " Abnormal accumulation of fluid and swelling of the stroma of cornea.\n", + " definition of HP:0012040 (Corneal stromal edema)\n", + " \n", + " \n", + " #Corneal stromal oedema\n", + " definition of HP:0012040 (Corneal stromal edema)\n", + " \n", + " \n", + " Esophageal carcinoma\n", + " definition of HP:0011459 (Esophageal carcinoma)\n", + " \n", + " \n", + " The presence of a carcinoma of the esophagus.\n", + " definition of HP:0011459 (Esophageal carcinoma)\n", + " \n", + " \n", + " Abnormal bladder morphology\n", + " definition of HP:0025487 (Abnormal bladder morphology)\n", + " \n", + " \n", + " Any structural anomaly of the bladder.\n", + " definition of HP:0025487 (Abnormal bladder morphology)\n", + " \n", + " \n", + " #Abnormality of bladder morphology\n", + " definition of HP:0025487 (Abnormal bladder morphology)\n", + " \n", + " \n", + " Diminished tissue dihydropteridine reductase activity\n", + " definition of HP:6000966 (Diminished tissue dihydropteridine reductase activity)\n", + " \n", + " \n", + " Concentration or activity of dihydropteridine reductase (EC 1.6.99.7) below the lower limit of normal. This enzyme can be measured in multiple tissues including leukocytes and erythrocytes.\n", + " definition of HP:6000966 (Diminished tissue dihydropteridine reductase activity)\n", + " \n", + " \n", + " Muscle fiber intranuclear inclusion bodies\n", + " definition of HP:0100304 (Muscle fiber intranuclear inclusion bodies)\n", + " \n", + " \n", + " The presence of inclusion bodies within the nucleus of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins.\n", + " definition of HP:0100304 (Muscle fiber intranuclear inclusion bodies)\n", + " \n", + " \n", + " #Muscle fibre intranuclear inclusion bodies\n", + " definition of HP:0100304 (Muscle fiber intranuclear inclusion bodies)\n", + " \n", + " \n", + " Maternal hyperphenylalaninemia\n", + " definition of HP:0100610 (Maternal hyperphenylalaninemia)\n", + " \n", + " \n", + " A medical history of exposure during the fetal period to hyperphenylalaninemia because the mother had phenylketonuria with inadequate control during pregnancy.\n", + " definition of HP:0100610 (Maternal hyperphenylalaninemia)\n", + " \n", + " \n", + " #High blood phenylalanine level in mother\n", + " definition of HP:0100610 (Maternal hyperphenylalaninemia)\n", + " \n", + " \n", + " Prolonged bleeding after surgery\n", + " definition of HP:0004846 (Prolonged bleeding after surgery)\n", + " \n", + " \n", + " Bleeding that persists longer than the normal time following a surgical procedure.\n", + " definition of HP:0004846 (Prolonged bleeding after surgery)\n", + " \n", + " \n", + " #Excessive bleeding during surgery #Prolonged bleeding after surgery #Protracted bleeding after surgery\n", + " definition of HP:0004846 (Prolonged bleeding after surgery)\n", + " \n", + " \n", + " Intermittent hyperventilation\n", + " definition of HP:0004879 (Intermittent hyperventilation)\n", + " \n", + " \n", + " Episodic hyperventilation.\n", + " definition of HP:0004879 (Intermittent hyperventilation)\n", + " \n", + " \n", + " #Episodic hyperventilation #Intermittent overbreathing\n", + " definition of HP:0004879 (Intermittent hyperventilation)\n", + " \n", + " \n", + " Elevated circulating N-carbamyl-beta-aminoisobutyric acid concentration\n", + " definition of HP:6000696 (Elevated circulating N-carbamyl-beta-aminoisobutyric acid concentration)\n", + " \n", + " \n", + " The concentration of N-carbamyl-beta-aminoisobutyric acid in the blood circulation is above the upper limit of normal.\n", + " definition of HP:6000696 (Elevated circulating N-carbamyl-beta-aminoisobutyric acid concentration)\n", + " \n", + " \n", + " Slender distal phalanx of finger\n", + " definition of HP:0012296 (Slender distal phalanx of finger)\n", + " \n", + " \n", + " Reduced diameter of the distal phalanx of finger.\n", + " definition of HP:0012296 (Slender distal phalanx of finger)\n", + " \n", + " \n", + " #Slender outermost bone of finger\n", + " definition of HP:0012296 (Slender distal phalanx of finger)\n", + " \n", + " \n", + " Corneal degeneration\n", + " definition of HP:0007705 (Corneal degeneration)\n", + " \n", + " \n", + " Anti-acetylcholine receptor antibody positivity\n", + " definition of HP:6001064 (Anti-acetylcholine receptor antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against acetylcholine receptor.\n", + " definition of HP:6001064 (Anti-acetylcholine receptor antibody positivity)\n", + " \n", + " \n", + " Failure to thrive in infancy\n", + " definition of HP:0001531 (Failure to thrive in infancy)\n", + " \n", + " \n", + " #Failure to thrive in first year of life #Faltering weight in infancy #Weight faltering in infancy\n", + " definition of HP:0001531 (Failure to thrive in infancy)\n", + " \n", + " \n", + " EEG with burst suppression\n", + " definition of HP:0010851 (EEG with burst suppression)\n", + " \n", + " \n", + " The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes.\n", + " definition of HP:0010851 (EEG with burst suppression)\n", + " \n", + " \n", + " Abnormal circulating serine family amino acid concentration\n", + " definition of HP:0010894 (Abnormal circulating serine family amino acid concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of a serine family amino acid in the blood circulation.\n", + " definition of HP:0010894 (Abnormal circulating serine family amino acid concentration)\n", + " \n", + " \n", + " #Abnormality of serine family amino acid metabolism\n", + " definition of HP:0010894 (Abnormal circulating serine family amino acid concentration)\n", + " \n", + " \n", + " Iris cyst\n", + " definition of HP:0011523 (Iris cyst)\n", + " \n", + " \n", + " An iris cyst is composed of a single cell layer of epithelium and is filled with fluid.\n", + " definition of HP:0011523 (Iris cyst)\n", + " \n", + " \n", + " Delayed ossification of the sacrum\n", + " definition of HP:0025371 (Delayed ossification of the sacrum)\n", + " \n", + " \n", + " Formation of the sacrum bone tissue occurs later than age-adjusted norms.\n", + " definition of HP:0025371 (Delayed ossification of the sacrum)\n", + " \n", + " \n", + " Eversion of lateral third of lower eyelids\n", + " definition of HP:0007655 (Eversion of lateral third of lower eyelids)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the distal phalanx of the 3rd toe\n", + " definition of HP:0100369 (Aplasia/Hypoplasia of the distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Absent/small outermost 3rd toe bone #Absent/underdeveloped outermost 3rd toe bone\n", + " definition of HP:0100369 (Aplasia/Hypoplasia of the distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Phosphoethanolaminuria\n", + " definition of HP:0003239 (Phosphoethanolaminuria)\n", + " \n", + " \n", + " An increased level of phosphoethanolamine (synonym: O-phosphoethanolamine) in the urine.\n", + " definition of HP:0003239 (Phosphoethanolaminuria)\n", + " \n", + " \n", + " #High urine phosphoethanolamine levels #Increased level of O-phosphoethanolamine in urine #Increased urine O-phosphoethanolamine level\n", + " definition of HP:0003239 (Phosphoethanolaminuria)\n", + " \n", + " \n", + " Pancreatic pseudocyst\n", + " definition of HP:0005206 (Pancreatic pseudocyst)\n", + " \n", + " \n", + " Cyst-like space not lined by epithelium and contained within the pancreas. Pancreatic pseudocysts are often associated with pancreatitis.\n", + " definition of HP:0005206 (Pancreatic pseudocyst)\n", + " \n", + " \n", + " Hypoplastic fifth fingernail\n", + " definition of HP:0008398 (Hypoplastic fifth fingernail)\n", + " \n", + " \n", + " A nail of the fifth finger that is diminished in length and width, i.e., underdeveloped nail of little finger.\n", + " definition of HP:0008398 (Hypoplastic fifth fingernail)\n", + " \n", + " \n", + " #Underdeveloped fifth fingernail #Underdeveloped fingernail of little finger #Underdeveloped fingernail of pinkie finger #Underdeveloped fingernail of pinky finger\n", + " definition of HP:0008398 (Hypoplastic fifth fingernail)\n", + " \n", + " \n", + " Abnormal intramembranous ossification\n", + " definition of HP:0012790 (Abnormal intramembranous ossification)\n", + " \n", + " \n", + " An anomaly in the process of intramembranous ossification by which flat bones (cranial bones of the skull, i.e., the frontal, parietal, occipital, and temporal bones, and the clavicles) are formed.\n", + " definition of HP:0012790 (Abnormal intramembranous ossification)\n", + " \n", + " \n", + " #Abnormal intramembranous bone ossification\n", + " definition of HP:0012790 (Abnormal intramembranous ossification)\n", + " \n", + " \n", + " Abnormal oocyte morphology\n", + " definition of HP:0020155 (Abnormal oocyte morphology)\n", + " \n", + " \n", + " An abnormal structure of the female germ cell (egg cell).\n", + " definition of HP:0020155 (Abnormal oocyte morphology)\n", + " \n", + " \n", + " Limited knee extension\n", + " definition of HP:0003066 (Limited knee extension)\n", + " \n", + " \n", + " Reduced ability to extend (straighten) the knee joint.\n", + " definition of HP:0003066 (Limited knee extension)\n", + " \n", + " \n", + " #Limited knee extension\n", + " definition of HP:0003066 (Limited knee extension)\n", + " \n", + " \n", + " Pancreatic fibrosis\n", + " definition of HP:0100732 (Pancreatic fibrosis)\n", + " \n", + " \n", + " Eosinophilic microabscess formation in the esophagus\n", + " definition of HP:0410152 (Eosinophilic microabscess formation in the esophagus)\n", + " \n", + " \n", + " The formation of small localized collection of eosinophiles (an eosinophilic microabscess) in the esophagus. Usually clusters of greater than or equal to 4 eosinophils are seen, that appear as exudates or white spots or white plaques.\n", + " definition of HP:0410152 (Eosinophilic microabscess formation in the esophagus)\n", + " \n", + " \n", + " #Eosinophilic micro-abscess formation in the esophagus #Eosinophilic micro-abscess formation in the oesophagus #Eosinophilic microabscess formation in the esophagus\n", + " definition of HP:0410152 (Eosinophilic microabscess formation in the esophagus)\n", + " \n", + " \n", + " Foveal hyperpigmentation\n", + " definition of HP:0008001 (Foveal hyperpigmentation)\n", + " \n", + " \n", + " Increased amount of pigmentation in the fovea centralis.\n", + " definition of HP:0008001 (Foveal hyperpigmentation)\n", + " \n", + " \n", + " Pulmonary interstitial lymphocyte infiltration\n", + " definition of HP:0033582 (Pulmonary interstitial lymphocyte infiltration)\n", + " \n", + " \n", + " Abnormal accumulation of lymphocytes in the interstitium of the lung.\n", + " definition of HP:0033582 (Pulmonary interstitial lymphocyte infiltration)\n", + " \n", + " \n", + " Acetabular dysplasia\n", + " definition of HP:0008807 (Acetabular dysplasia)\n", + " \n", + " \n", + " A smaller than normal acetabulum that has insufficient femoral head coverage leading to abnormal hip joint contact pressures, instability and pain.\n", + " definition of HP:0008807 (Acetabular dysplasia)\n", + " \n", + " \n", + " #Dysplastic acetabulae\n", + " definition of HP:0008807 (Acetabular dysplasia)\n", + " \n", + " \n", + " Neonatal electro-clinical non-motor seizure\n", + " definition of HP:0032812 (Neonatal electro-clinical non-motor seizure)\n", + " \n", + " \n", + " Patchy hypopigmentation of hair\n", + " definition of HP:0011365 (Patchy hypopigmentation of hair)\n", + " \n", + " \n", + " Reduced pigmentation of hair in patches.\n", + " definition of HP:0011365 (Patchy hypopigmentation of hair)\n", + " \n", + " \n", + " Muscular ventricular septal aneurysm\n", + " definition of HP:0030959 (Muscular ventricular septal aneurysm)\n", + " \n", + " \n", + " Bowing (bulging out) of the muscular part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle).\n", + " definition of HP:0030959 (Muscular ventricular septal aneurysm)\n", + " \n", + " \n", + " #Aneurysm of the muscular ventricular septum\n", + " definition of HP:0030959 (Muscular ventricular septal aneurysm)\n", + " \n", + " \n", + " Anti-thyroglobulin antibody positivity\n", + " definition of HP:0032069 (Anti-thyroglobulin antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react to thyroglobulin.\n", + " definition of HP:0032069 (Anti-thyroglobulin antibody positivity)\n", + " \n", + " \n", + " #Anti-thyroid globulin antibody positivity #TgAbs\n", + " definition of HP:0032069 (Anti-thyroglobulin antibody positivity)\n", + " \n", + " \n", + " Nightmare disorder\n", + " definition of HP:5200287 (Nightmare disorder)\n", + " \n", + " \n", + " Nightmare disorder is defined by the repeated occurrence of nightmares that cause clinically significant distress or impairment in social, occupational or other important areas of functioning, which are not attributable to the physiological effects of a substance (e.g. drug abuse or medication) and which cannot be adequately explained by coexisting mental and medical disorders.\n", + " definition of HP:5200287 (Nightmare disorder)\n", + " \n", + " \n", + " #Disturbing dreams\n", + " definition of HP:5200287 (Nightmare disorder)\n", + " \n", + " \n", + " Periosteal new bone of humeral diaphysis\n", + " definition of HP:0003931 (Periosteal new bone of humeral diaphysis)\n", + " \n", + " \n", + " Transudative pleural effusion\n", + " definition of HP:0011920 (Transudative pleural effusion)\n", + " \n", + " \n", + " A type of pleural effusion with a transudate (extravascular fluid with low protein content and a low specific gravity). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH.\n", + " definition of HP:0011920 (Transudative pleural effusion)\n", + " \n", + " \n", + " Proximal placement of hallux\n", + " definition of HP:0011926 (Proximal placement of hallux)\n", + " \n", + " \n", + " Proximal mislocalization of the big toe from its normal position.\n", + " definition of HP:0011926 (Proximal placement of hallux)\n", + " \n", + " \n", + " #Proximal placement of big toe #Proximally placed halluces\n", + " definition of HP:0011926 (Proximal placement of hallux)\n", + " \n", + " \n", + " Increased HDL2a concentration\n", + " definition of HP:0032420 (Increased HDL2a concentration)\n", + " \n", + " \n", + " An elevation above the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2a particle is defined as an HDL particle with a size of 8.80-9.69 nm.\n", + " definition of HP:0032420 (Increased HDL2a concentration)\n", + " \n", + " \n", + " Decreased acrosin in sperm head\n", + " definition of HP:0031136 (Decreased acrosin in sperm head)\n", + " \n", + " \n", + " A reduced amount of the enzyme acrosin in the sperm head acrosome. The acrosome is an organelle in the anterior half of the head of spermatozoa, and acrosin is a protease that contributes to the digestation of the zona pellucida in the fertilization process.\n", + " definition of HP:0031136 (Decreased acrosin in sperm head)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the eyebrow\n", + " definition of HP:0100840 (Aplasia/Hypoplasia of the eyebrow)\n", + " \n", + " \n", + " Absence or underdevelopment of the eyebrow.\n", + " definition of HP:0100840 (Aplasia/Hypoplasia of the eyebrow)\n", + " \n", + " \n", + " #Absence of eyebrow #Agenesis of eyebrow #Hypotrophic eyebrow #Lack of eyebrow #Missing eyebrow\n", + " definition of HP:0100840 (Aplasia/Hypoplasia of the eyebrow)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the ulna\n", + " definition of HP:0006495 (Aplasia/Hypoplasia of the ulna)\n", + " \n", + " \n", + " Absence or underdevelopment of the ulna.\n", + " definition of HP:0006495 (Aplasia/Hypoplasia of the ulna)\n", + " \n", + " \n", + " #Absence/underdevelopment of inner forearm bone #Absent-hypoplastic ulnae #Absent/small ulna #Hypoplasia or unilateral/bilateral absence of ulna #Ulnar hypoplasia/aplasia\n", + " definition of HP:0006495 (Aplasia/Hypoplasia of the ulna)\n", + " \n", + " \n", + " Localized hypoplasia of dental enamel\n", + " definition of HP:0011074 (Localized hypoplasia of dental enamel)\n", + " \n", + " \n", + " A localized form of developmental hypoplasia of the dental enamel.\n", + " definition of HP:0011074 (Localized hypoplasia of dental enamel)\n", + " \n", + " \n", + " #Localised hypoplasia of dental enamel #Localised hypoplasia of tooth enamel #Localized hypoplasia of tooth enamel\n", + " definition of HP:0011074 (Localized hypoplasia of dental enamel)\n", + " \n", + " \n", + " CSF anti-NMDA receptor antibody positivity\n", + " definition of HP:0032266 (CSF anti-NMDA receptor antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the cerebrospinal fluid (CSF) that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor.\n", + " definition of HP:0032266 (CSF anti-NMDA receptor antibody positivity)\n", + " \n", + " \n", + " #Presence of anti-N-methyl-D-aspartate Receptor antibody in CSF #Presence of anti-NMDAR antibody in cerebrospinal fluid #Presence of NMDAR antibody in CSF\n", + " definition of HP:0032266 (CSF anti-NMDA receptor antibody positivity)\n", + " \n", + " \n", + " Abnormal lower motor neuron morphology\n", + " definition of HP:0002366 (Abnormal lower motor neuron morphology)\n", + " \n", + " \n", + " Any structural anomaly of the lower motor neuron.\n", + " definition of HP:0002366 (Abnormal lower motor neuron morphology)\n", + " \n", + " \n", + " #Lower motor neuron disease #Lower motor neuron manifestations #Lower motor neuron signs\n", + " definition of HP:0002366 (Abnormal lower motor neuron morphology)\n", + " \n", + " \n", + " Elevated brain succinate level by MRS\n", + " definition of HP:0025740 (Elevated brain succinate level by MRS)\n", + " \n", + " \n", + " An increase in the level of succinate in the brain identified by magnetic resonance spectroscopy (MRS).\n", + " definition of HP:0025740 (Elevated brain succinate level by MRS)\n", + " \n", + " \n", + " #Elevated brain succinate level by magnetic resonance spectroscopy\n", + " definition of HP:0025740 (Elevated brain succinate level by MRS)\n", + " \n", + " \n", + " Abnormal cardiac MRI\n", + " definition of HP:0500016 (Abnormal cardiac MRI)\n", + " \n", + " \n", + " Abnormal results of a MRI for the heart.\n", + " definition of HP:0500016 (Abnormal cardiac MRI)\n", + " \n", + " \n", + " #Abnormal cardiac magnetic resonance imaging #Abnormal heart MRI\n", + " definition of HP:0500016 (Abnormal cardiac MRI)\n", + " \n", + " \n", + " Upper extremity hypokinesia\n", + " definition of HP:0033413 (Upper extremity hypokinesia)\n", + " \n", + " \n", + " Abnormally diminished movement of the upper extremities. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency.\n", + " definition of HP:0033413 (Upper extremity hypokinesia)\n", + " \n", + " \n", + " #Hypokinesia of the upper extremities\n", + " definition of HP:0033413 (Upper extremity hypokinesia)\n", + " \n", + " \n", + " Single ventricle of indeterminate morphology\n", + " definition of HP:0011680 (Single ventricle of indeterminate morphology)\n", + " \n", + " \n", + " Myositis-specific autoantibody positivity\n", + " definition of HP:6000678 (Myositis-specific autoantibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that display a high degree of specificity for idiopathic inflammatory myopathy (myositis-specific autoantibodies (MSAs)). MSAs are clinically useful biomarkers to help the diagnosis of polymyositis/dermatomyositis (PM/DM). Many of these are also associated with a unique clinical subset of PM/DM, making them useful in predicting and monitoring certain clinical manifestations.\n", + " definition of HP:6000678 (Myositis-specific autoantibody positivity)\n", + " \n", + " \n", + " Renal interstitial fibrosis\n", + " definition of HP:0032948 (Renal interstitial fibrosis)\n", + " \n", + " \n", + " The accumulation of collagen and related extracellular matrix (ECM) molecules in the interstitium of the kidney. The interstitium is expanded by the presence of collagen that stain blue on trichrome. Tubules are not back to back, but rather separated by fibrosis and can be atrophic.\n", + " definition of HP:0032948 (Renal interstitial fibrosis)\n", + " \n", + " \n", + " Reduced fibroblast surface marker level\n", + " definition of HP:0031552 (Reduced fibroblast surface marker level)\n", + " \n", + " \n", + " Reduced level of a protein that is normally present on the fibroblast surface as assessed by flow cytometry.\n", + " definition of HP:0031552 (Reduced fibroblast surface marker level)\n", + " \n", + " \n", + " Increased upper to lower segment ratio\n", + " definition of HP:0012774 (Increased upper to lower segment ratio)\n", + " \n", + " \n", + " Elevated ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis.\n", + " definition of HP:0012774 (Increased upper to lower segment ratio)\n", + " \n", + " \n", + " Double inlet atrioventricular connection\n", + " definition of HP:0011554 (Double inlet atrioventricular connection)\n", + " \n", + " \n", + " The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve.\n", + " definition of HP:0011554 (Double inlet atrioventricular connection)\n", + " \n", + " \n", + " #Double inlet atrioventricular connexion\n", + " definition of HP:0011554 (Double inlet atrioventricular connection)\n", + " \n", + " \n", + " Retinal arteriolar tortuosity\n", + " definition of HP:0001136 (Retinal arteriolar tortuosity)\n", + " \n", + " \n", + " The presence of an increased number of twists and turns of the retinal arterioles.\n", + " definition of HP:0001136 (Retinal arteriolar tortuosity)\n", + " \n", + " \n", + " #Tortuous retinal arterioles\n", + " definition of HP:0001136 (Retinal arteriolar tortuosity)\n", + " \n", + " \n", + " Glyoxalase deficiency\n", + " definition of HP:0003258 (Glyoxalase deficiency)\n", + " \n", + " \n", + " Rhythmic movements of the tympanic membrane\n", + " definition of HP:6000043 (Rhythmic movements of the tympanic membrane)\n", + " \n", + " \n", + " Regularly occurring motion of the tympanic membrane (eardrum), which is located between the inner and middle ear. This can be a manifestation of tensor tympani myoclonus, which can also be ascertained as sawtooth patterns on long-term tympanometry.\n", + " definition of HP:6000043 (Rhythmic movements of the tympanic membrane)\n", + " \n", + " \n", + " Anti-phosphatidyl glycerol antibody positivity\n", + " definition of HP:0034098 (Anti-phosphatidyl glycerol antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl glycerol.\n", + " definition of HP:0034098 (Anti-phosphatidyl glycerol antibody positivity)\n", + " \n", + " \n", + " Asymmetric blood pressure between legs\n", + " definition of HP:0025750 (Asymmetric blood pressure between legs)\n", + " \n", + " \n", + " A substantial difference in blood pressure (e.g., 20 mmHg) between the right and left legs.\n", + " definition of HP:0025750 (Asymmetric blood pressure between legs)\n", + " \n", + " \n", + " Medullary peritubular capillary lumen organized thrombi\n", + " definition of HP:0033871 (Medullary peritubular capillary lumen organized thrombi)\n", + " \n", + " \n", + " Thrombi containing fibrous tissue and capillary-like vascular channels located within the lumen of the peritubular capillaries of the medulla of the kidney.\n", + " definition of HP:0033871 (Medullary peritubular capillary lumen organized thrombi)\n", + " \n", + " \n", + " #Organised thrombi within the medullary peritubular capillary lumen #Organized thrombi within the medullary peritubular capillary lumen\n", + " definition of HP:0033871 (Medullary peritubular capillary lumen organized thrombi)\n", + " \n", + " \n", + " Sclerosis of distal finger phalanx\n", + " definition of HP:0100915 (Sclerosis of distal finger phalanx)\n", + " \n", + " \n", + " An elevation in bone density in one or more distal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity.\n", + " definition of HP:0100915 (Sclerosis of distal finger phalanx)\n", + " \n", + " \n", + " #Increased bone density in outermost finger bone #Sclerosis of the distal phalanges of the hand\n", + " definition of HP:0100915 (Sclerosis of distal finger phalanx)\n", + " \n", + " \n", + " Decreased circulating androstenedione concentration\n", + " definition of HP:0033812 (Decreased circulating androstenedione concentration)\n", + " \n", + " \n", + " Reduced concentration of androstenedione in the blood circulation.\n", + " definition of HP:0033812 (Decreased circulating androstenedione concentration)\n", + " \n", + " \n", + " Elevated urinary glycolic acid level\n", + " definition of HP:6000431 (Elevated urinary glycolic acid level)\n", + " \n", + " \n", + " The amount of glycolic acid in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000431 (Elevated urinary glycolic acid level)\n", + " \n", + " \n", + " Sleep drunkeness\n", + " definition of HP:6000456 (Sleep drunkeness)\n", + " \n", + " \n", + " Sleep drunkenness refers to the prolonged and pronounced difficulty with awakening from nocturnal sleep and daytime naps. This symptom should be distinguished from the milder and physiologic state of sleep inertia seen even in healthy controls .\n", + " definition of HP:6000456 (Sleep drunkeness)\n", + " \n", + " \n", + " Focal aware motor seizure with paresis/paralysis\n", + " definition of HP:0032732 (Focal aware motor seizure with paresis/paralysis)\n", + " \n", + " \n", + " A focal motor seizure with paresis / paralysis characterized by retained awareness throughout the seizure.\n", + " definition of HP:0032732 (Focal aware motor seizure with paresis/paralysis)\n", + " \n", + " \n", + " #Focal motor aware seizure with paresis/paralysis\n", + " definition of HP:0032732 (Focal aware motor seizure with paresis/paralysis)\n", + " \n", + " \n", + " Reduced circulating aldolase concentration\n", + " definition of HP:0012545 (Reduced circulating aldolase concentration)\n", + " \n", + " \n", + " Concentration of fructose 1,6-bisphosphate aldolase in the blood circulation below the lower limit of normal.\n", + " definition of HP:0012545 (Reduced circulating aldolase concentration)\n", + " \n", + " \n", + " #Reduced aldolase level\n", + " definition of HP:0012545 (Reduced circulating aldolase concentration)\n", + " \n", + " \n", + " Poor appetite\n", + " definition of HP:0004396 (Poor appetite)\n", + " \n", + " \n", + " A reduced desire to eat.\n", + " definition of HP:0004396 (Poor appetite)\n", + " \n", + " \n", + " #Decreased appetite #Loss of appetite #Poor appetite\n", + " definition of HP:0004396 (Poor appetite)\n", + " \n", + " \n", + " Quotidian\n", + " definition of HP:0025305 (Quotidian)\n", + " \n", + " \n", + " Applies to a sign, symptom, or other manifestation that is episodic with a fixed time interval of one day (24 hours).\n", + " definition of HP:0025305 (Quotidian)\n", + " \n", + " \n", + " Paraplegia\n", + " definition of HP:0010550 (Paraplegia)\n", + " \n", + " \n", + " Severe or complete weakness of both lower extremities with sparing of the upper extremities.\n", + " definition of HP:0010550 (Paraplegia)\n", + " \n", + " \n", + " #Leg paralysis\n", + " definition of HP:0010550 (Paraplegia)\n", + " \n", + " \n", + " Spleen hemangioma\n", + " definition of HP:0410268 (Spleen hemangioma)\n", + " \n", + " \n", + " A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the spleen.\n", + " definition of HP:0410268 (Spleen hemangioma)\n", + " \n", + " \n", + " #Splenic hemangioma\n", + " definition of HP:0410268 (Spleen hemangioma)\n", + " \n", + " \n", + " Abnormal anterior chamber morphology\n", + " definition of HP:0000593 (Abnormal anterior chamber morphology)\n", + " \n", + " \n", + " Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris.\n", + " definition of HP:0000593 (Abnormal anterior chamber morphology)\n", + " \n", + " \n", + " #Abnormality of the anterior chamber #Anterior chamber anomalies #Ocular anterior chamber abnormality\n", + " definition of HP:0000593 (Abnormal anterior chamber morphology)\n", + " \n", + " \n", + " Yellow-brown discoloration of the teeth\n", + " definition of HP:0006286 (Yellow-brown discoloration of the teeth)\n", + " \n", + " \n", + " #Yellow-brown discoloration of the teeth #Yellow-brown discolored teeth #Yellow-brown discoloured teeth #Yellow-brown tooth shade\n", + " definition of HP:0006286 (Yellow-brown discoloration of the teeth)\n", + " \n", + " \n", + " Short middle phalanx of finger\n", + " definition of HP:0005819 (Short middle phalanx of finger)\n", + " \n", + " \n", + " Short (hypoplastic) middle phalanx of finger, affecting one or more fingers.\n", + " definition of HP:0005819 (Short middle phalanx of finger)\n", + " \n", + " \n", + " #Brachymesophalangy #Disproportionately short middle phalanges #Hypoplasia of the middle phalanges of the hand #Hypoplastic middle phalanges #Hypoplastic middle phalanx #Midphalangeal hypoplasia #Short middle bone of finger #Short middle phalanges #Shortened middle finger bones\n", + " definition of HP:0005819 (Short middle phalanx of finger)\n", + " \n", + " \n", + " Hypospadias\n", + " definition of HP:0000047 (Hypospadias)\n", + " \n", + " \n", + " Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.\n", + " definition of HP:0000047 (Hypospadias)\n", + " \n", + " \n", + " #Hypospadia\n", + " definition of HP:0000047 (Hypospadias)\n", + " \n", + " \n", + " Diaphragmatic weakness\n", + " definition of HP:0009113 (Diaphragmatic weakness)\n", + " \n", + " \n", + " A decrease in the strength of the diaphragm.\n", + " definition of HP:0009113 (Diaphragmatic weakness)\n", + " \n", + " \n", + " #Diaphragmatic paraparesis #Weak diaphragm\n", + " definition of HP:0009113 (Diaphragmatic weakness)\n", + " \n", + " \n", + " Left ventricular dilatation\n", + " definition of HP:4000141 (Left ventricular dilatation)\n", + " \n", + " \n", + " Enlargement of the chamber of the left heart ventricle.\n", + " definition of HP:4000141 (Left ventricular dilatation)\n", + " \n", + " \n", + " #Dilated left heart ventricle\n", + " definition of HP:4000141 (Left ventricular dilatation)\n", + " \n", + " \n", + " Midperipheral\n", + " definition of HP:0030648 (Midperipheral)\n", + " \n", + " \n", + " #Mid-peripheral\n", + " definition of HP:0030648 (Midperipheral)\n", + " \n", + " \n", + " Spontaneous pneumothorax\n", + " definition of HP:0002108 (Spontaneous pneumothorax)\n", + " \n", + " \n", + " Pneumothorax occurring without traumatic injury to the chest or lung.\n", + " definition of HP:0002108 (Spontaneous pneumothorax)\n", + " \n", + " \n", + " #Spontaneous collapsed lung\n", + " definition of HP:0002108 (Spontaneous pneumothorax)\n", + " \n", + " \n", + " Abnormal cerebral white matter morphology\n", + " definition of HP:0002500 (Abnormal cerebral white matter morphology)\n", + " \n", + " \n", + " An abnormality of the cerebral white matter.\n", + " definition of HP:0002500 (Abnormal cerebral white matter morphology)\n", + " \n", + " \n", + " #Abnormality of subcortical white matter #Abnormality of the cerebral white matter #Cerebral white matter abnormalities #Leukoaraiosis #White matter abnormalities #White matter alterations\n", + " definition of HP:0002500 (Abnormal cerebral white matter morphology)\n", + " \n", + " \n", + " Abnormal eye morphology\n", + " definition of HP:0012372 (Abnormal eye morphology)\n", + " \n", + " \n", + " A structural anomaly of the globe of the eye, or bulbus oculi.\n", + " definition of HP:0012372 (Abnormal eye morphology)\n", + " \n", + " \n", + " #Abnormal eye structure #Abnormality of the globe #Abnormally shaped eye\n", + " definition of HP:0012372 (Abnormal eye morphology)\n", + " \n", + " \n", + " Enlarged epiphysis of the proximal phalanx of the 5th toe\n", + " definition of HP:0100227 (Enlarged epiphysis of the proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " #Enlarged end part of the innermost bone of the little toe #Enlarged end part of the innermost bone of the pinkie toe #Enlarged end part of the innermost bone of the pinky toe\n", + " definition of HP:0100227 (Enlarged epiphysis of the proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " Abnormal carpal morphology\n", + " definition of HP:0001191 (Abnormal carpal morphology)\n", + " \n", + " \n", + " An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate).\n", + " definition of HP:0001191 (Abnormal carpal morphology)\n", + " \n", + " \n", + " #Abnormal carpal bones #Abnormality of the carpal bones #Anomalous carpal bones #Carpal bone anomalies\n", + " definition of HP:0001191 (Abnormal carpal morphology)\n", + " \n", + " \n", + " Empty delta sign\n", + " definition of HP:0032267 (Empty delta sign)\n", + " \n", + " \n", + " This sign is created by a nonenhancing thrombus in the dural sinus surrounded by triangular enhancing dura as seen on cross-section. The sign, seen on contrast-enhanced CT scan images, suggests dural sinovenous thrombosis. It is best seen on wider window settings. It is a reliable sign of sinus thrombosis but is seen only in 25-30% of these cases.\n", + " definition of HP:0032267 (Empty delta sign)\n", + " \n", + " \n", + " Broad middle phalanx of the 3rd finger\n", + " definition of HP:0009430 (Broad middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " Increased width of the middle phalanx of the 3rd finger.\n", + " definition of HP:0009430 (Broad middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Broad middle bone of middle finger #Wide/broad middle phalanx of middle-finger\n", + " definition of HP:0009430 (Broad middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " Coronary artery atherosclerosis\n", + " definition of HP:0001677 (Coronary artery atherosclerosis)\n", + " \n", + " \n", + " Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia.\n", + " definition of HP:0001677 (Coronary artery atherosclerosis)\n", + " \n", + " \n", + " #Coronary atherosclerosis #Coronary disease #Plaque build-up in arteries supplying blood to heart\n", + " definition of HP:0001677 (Coronary artery atherosclerosis)\n", + " \n", + " \n", + " Fourth heart sound\n", + " definition of HP:0031659 (Fourth heart sound)\n", + " \n", + " \n", + " The fourth heart sound (S4) is a low-pitched sound that occurs just before the first heart sound (S1) when the atria contract to force blood into the left ventricle, that is, coincident with late diastolic filling of the ventricle due to atrial contraction.\n", + " definition of HP:0031659 (Fourth heart sound)\n", + " \n", + " \n", + " #Atrial gallop #Presystolic gallop #S4\n", + " definition of HP:0031659 (Fourth heart sound)\n", + " \n", + " \n", + " Short 5th finger\n", + " definition of HP:0009237 (Short 5th finger)\n", + " \n", + " \n", + " Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger.\n", + " definition of HP:0009237 (Short 5th finger)\n", + " \n", + " \n", + " #Fifth finger brachydactyly #Hypoplastic phalanges of the little finger #Hypoplastic/small 5th finger #Hypoplastic/small little finger #Short 5th finger #Short fifth finger #Short fifth fingers #Short little finger #Short phalanges of the little finger #Short pinkie finger #Short pinky finger\n", + " definition of HP:0009237 (Short 5th finger)\n", + " \n", + " \n", + " Dysgammaglobulinemia\n", + " definition of HP:0002961 (Dysgammaglobulinemia)\n", + " \n", + " \n", + " Selective deficiency of one or more, but not all, classes of immunoglobulins.\n", + " definition of HP:0002961 (Dysgammaglobulinemia)\n", + " \n", + " \n", + " Anti-Kelch like protein 12 antibody positivity\n", + " definition of HP:0034115 (Anti-Kelch like protein 12 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Kelch like protein 12.\n", + " definition of HP:0034115 (Anti-Kelch like protein 12 antibody positivity)\n", + " \n", + " \n", + " #Anti-KLHL-12 antibody positivity\n", + " definition of HP:0034115 (Anti-Kelch like protein 12 antibody positivity)\n", + " \n", + " \n", + " Broad phalanges of the 2nd toe\n", + " definition of HP:0010348 (Broad phalanges of the 2nd toe)\n", + " \n", + " \n", + " #Broad bones of the 2nd toe\n", + " definition of HP:0010348 (Broad phalanges of the 2nd toe)\n", + " \n", + " \n", + " Elevated circulating erythropoietin concentration\n", + " definition of HP:0033644 (Elevated circulating erythropoietin concentration)\n", + " \n", + " \n", + " Increased concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production.\n", + " definition of HP:0033644 (Elevated circulating erythropoietin concentration)\n", + " \n", + " \n", + " #Elevated circulating erythropoietin\n", + " definition of HP:0033644 (Elevated circulating erythropoietin concentration)\n", + " \n", + " \n", + " Thinning of outer muscular layer of small bowel\n", + " definition of HP:6000072 (Thinning of outer muscular layer of small bowel)\n", + " \n", + " \n", + " The depth of the outer muscular layer of the small bowel is below the lower limit of normal.\n", + " definition of HP:6000072 (Thinning of outer muscular layer of small bowel)\n", + " \n", + " \n", + " Broncholith\n", + " definition of HP:0033652 (Broncholith)\n", + " \n", + " \n", + " A broncholith, a calcified peribronchial lymph node that erodes into an adjacent bronchus, is most often the consequence of Histoplasma or tuberculous infection. The imaging appearance is of a small calcific focus in or immediately adjacent to an airway, most frequently the right middle lobe bronchus. Broncholiths are readily identified on CT scans. Distal obstructive changes may include atelectasis, mucoid impaction, and bronchiectasis\n", + " definition of HP:0033652 (Broncholith)\n", + " \n", + " \n", + " Conjunctival cicatrization\n", + " definition of HP:0500039 (Conjunctival cicatrization)\n", + " \n", + " \n", + " An abnormality of the conjuctiva and ocular surface caused by conjunctival inflammation and associated with scarring.\n", + " definition of HP:0500039 (Conjunctival cicatrization)\n", + " \n", + " \n", + " #Cicatricial conjunctivitis #Cicatrizating conjunctivitis #Conjunctival cicatricial conjunctivitis\n", + " definition of HP:0500039 (Conjunctival cicatrization)\n", + " \n", + " \n", + " Notched hand bones\n", + " definition of HP:0004284 (Notched hand bones)\n", + " \n", + " \n", + " #Notched hand bones\n", + " definition of HP:0004284 (Notched hand bones)\n", + " \n", + " \n", + " Deviation of the thumb\n", + " definition of HP:0009603 (Deviation of the thumb)\n", + " \n", + " \n", + " Displacement of the thumb from its normal position.\n", + " definition of HP:0009603 (Deviation of the thumb)\n", + " \n", + " \n", + " #Abnormal thumb placement #Deviated thumb #Displacement of the thumb\n", + " definition of HP:0009603 (Deviation of the thumb)\n", + " \n", + " \n", + " Squamous Papilloma\n", + " definition of HP:0031021 (Squamous Papilloma)\n", + " \n", + " \n", + " A benign epithelial neoplasm characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy [NCI thesaurus].\n", + " definition of HP:0031021 (Squamous Papilloma)\n", + " \n", + " \n", + " Air crescent\n", + " definition of HP:0033661 (Air crescent)\n", + " \n", + " \n", + " An air crescent is a collection of air in a crescentic shape that separates the wall of a cavity from an inner mass. The air crescent sign is often considered characteristic of either Aspergillus colonization of preexisting cavities or retraction of infarcted lung in angioinvasive aspergillosis. However, the air crescent sign has also been reported in other conditions, including tuberculosis, Wegener granulomatosis, intracavitary hemorrhage, and lung cancer.\n", + " definition of HP:0033661 (Air crescent)\n", + " \n", + " \n", + " Short 3rd toe\n", + " definition of HP:0005643 (Short 3rd toe)\n", + " \n", + " \n", + " Underdevelopment (hypoplasia) of the third toe.\n", + " definition of HP:0005643 (Short 3rd toe)\n", + " \n", + " \n", + " #Brachydactyly of third toes #Short 3rd toe #Short third toe\n", + " definition of HP:0005643 (Short 3rd toe)\n", + " \n", + " \n", + " Palate neoplasm\n", + " definition of HP:0031366 (Palate neoplasm)\n", + " \n", + " \n", + " A neoplasm that affects the hard palate, soft palate, or uvula.\n", + " definition of HP:0031366 (Palate neoplasm)\n", + " \n", + " \n", + " Spastic tetraparesis\n", + " definition of HP:0001285 (Spastic tetraparesis)\n", + " \n", + " \n", + " Spastic weakness affecting all four limbs.\n", + " definition of HP:0001285 (Spastic tetraparesis)\n", + " \n", + " \n", + " #Spastic quadriparesis\n", + " definition of HP:0001285 (Spastic tetraparesis)\n", + " \n", + " \n", + " Limited shoulder abduction\n", + " definition of HP:0033475 (Limited shoulder abduction)\n", + " \n", + " \n", + " Decreased ability to move the arm away from the midline of the body.\n", + " definition of HP:0033475 (Limited shoulder abduction)\n", + " \n", + " \n", + " Absent central microtubular pair morphology of respiratory motile cilia\n", + " definition of HP:0012264 (Absent central microtubular pair morphology of respiratory motile cilia)\n", + " \n", + " \n", + " Absence of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration.\n", + " definition of HP:0012264 (Absent central microtubular pair morphology of respiratory motile cilia)\n", + " \n", + " \n", + " Complete duplication of the distal phalanx of the 5th finger\n", + " definition of HP:0009991 (Complete duplication of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " Complete duplication of the distal phalanx of little finger.\n", + " definition of HP:0009991 (Complete duplication of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " #Complete duplication of the outermost little finger bone #Complete duplication of the outermost pinkie finger bone #Complete duplication of the outermost pinky finger bone\n", + " definition of HP:0009991 (Complete duplication of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " Duffy Fya positivity\n", + " definition of HP:0032374 (Duffy Fya positivity)\n", + " \n", + " \n", + " Presence of the Duffy Fya antigen.\n", + " definition of HP:0032374 (Duffy Fya positivity)\n", + " \n", + " \n", + " Positive bloodstream cryptococcus culture\n", + " definition of HP:6000906 (Positive bloodstream cryptococcus culture)\n", + " \n", + " \n", + " Growth of Cryptococcus in a culture derived from a blood sample.\n", + " definition of HP:6000906 (Positive bloodstream cryptococcus culture)\n", + " \n", + " \n", + " Elevated CD4-positive, CD25-positive regulatory T cell count\n", + " definition of HP:0030337 (Elevated CD4-positive, CD25-positive regulatory T cell count)\n", + " \n", + " \n", + " An increased number of CD4-positive, CD25-positive regulatory T cells.\n", + " definition of HP:0030337 (Elevated CD4-positive, CD25-positive regulatory T cell count)\n", + " \n", + " \n", + " Decreased thyroid-stimulating hormone level\n", + " definition of HP:0031098 (Decreased thyroid-stimulating hormone level)\n", + " \n", + " \n", + " Reduced amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland.\n", + " definition of HP:0031098 (Decreased thyroid-stimulating hormone level)\n", + " \n", + " \n", + " #Decreased plasma TSH #Decreased thyrotropin level\n", + " definition of HP:0031098 (Decreased thyroid-stimulating hormone level)\n", + " \n", + " \n", + " Irregular astigmatism\n", + " definition of HP:0031792 (Irregular astigmatism)\n", + " \n", + " \n", + " A type of astigmatism in which the principle meridians are not 90 degrees apart and which is associated with loss of vision.\n", + " definition of HP:0031792 (Irregular astigmatism)\n", + " \n", + " \n", + " Decreased adipose tissue\n", + " definition of HP:0040063 (Decreased adipose tissue)\n", + " \n", + " \n", + " #Decreased fat tissue\n", + " definition of HP:0040063 (Decreased adipose tissue)\n", + " \n", + " \n", + " Decreased circulating T4 concentration\n", + " definition of HP:0031507 (Decreased circulating T4 concentration)\n", + " \n", + " \n", + " A reduction below the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3).\n", + " definition of HP:0031507 (Decreased circulating T4 concentration)\n", + " \n", + " \n", + " #Decreased circulating T4 level #Decreased circulating thyroxine level #Reduced T4 plasma level\n", + " definition of HP:0031507 (Decreased circulating T4 concentration)\n", + " \n", + " \n", + " Absent palatine bone ossification\n", + " definition of HP:0430013 (Absent palatine bone ossification)\n", + " \n", + " \n", + " Lack of formation of the palatine bone.\n", + " definition of HP:0430013 (Absent palatine bone ossification)\n", + " \n", + " \n", + " Pseudoepiphysis of the 2nd finger\n", + " definition of HP:0009495 (Pseudoepiphysis of the 2nd finger)\n", + " \n", + " \n", + " A secondary ossification center in the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.\n", + " definition of HP:0009495 (Pseudoepiphysis of the 2nd finger)\n", + " \n", + " \n", + " #Accessory index finger epiphysis\n", + " definition of HP:0009495 (Pseudoepiphysis of the 2nd finger)\n", + " \n", + " \n", + " Long metacarpals\n", + " definition of HP:0010493 (Long metacarpals)\n", + " \n", + " \n", + " An abnormally increased length of the metacarpal bones.\n", + " definition of HP:0010493 (Long metacarpals)\n", + " \n", + " \n", + " #Elongated long bone of hand #Increased length of metacarpals\n", + " definition of HP:0010493 (Long metacarpals)\n", + " \n", + " \n", + " Cupped metaphyses of the upper limbs\n", + " definition of HP:0003848 (Cupped metaphyses of the upper limbs)\n", + " \n", + " \n", + " #Cupped wide portion of the upper limb bone\n", + " definition of HP:0003848 (Cupped metaphyses of the upper limbs)\n", + " \n", + " \n", + " Reduced tissue gamma-glutamyltransferase activity\n", + " definition of HP:6000578 (Reduced tissue gamma-glutamyltransferase activity)\n", + " \n", + " \n", + " Activity of gamma-glutamyltransferase in the tissues below the lower limit of normal. The activity can be measured in multiple tissues including leukocytes and cultured fibroblasts.\n", + " definition of HP:6000578 (Reduced tissue gamma-glutamyltransferase activity)\n", + " \n", + " \n", + " Tibial torsion\n", + " definition of HP:0100694 (Tibial torsion)\n", + " \n", + " \n", + " Twisted position of the tibia (shin bone) associated with pathological rotation of the leg.\n", + " definition of HP:0100694 (Tibial torsion)\n", + " \n", + " \n", + " Arterial rupture\n", + " definition of HP:0025019 (Arterial rupture)\n", + " \n", + " \n", + " Sudden breakage of an artery leading to leakage of blood from the circulation.\n", + " definition of HP:0025019 (Arterial rupture)\n", + " \n", + " \n", + " Gonadal dysgenesis with female appearance, male\n", + " definition of HP:0008723 (Gonadal dysgenesis with female appearance, male)\n", + " \n", + " \n", + " Unusual gonadal development in a person with a 46,XY male karyotype, leading to a more female sex differentiation.\n", + " definition of HP:0008723 (Gonadal dysgenesis with female appearance, male)\n", + " \n", + " \n", + " Bracket epiphyses of the 5th finger\n", + " definition of HP:0009383 (Bracket epiphyses of the 5th finger)\n", + " \n", + " \n", + " An abnormality of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.\n", + " definition of HP:0009383 (Bracket epiphyses of the 5th finger)\n", + " \n", + " \n", + " #Bracket shaped end part of little finger bone #Bracket shaped end part of pinkie finger bone #Bracket shaped end part of pinky finger bone\n", + " definition of HP:0009383 (Bracket epiphyses of the 5th finger)\n", + " \n", + " \n", + " Failure to increase oxygen saturation on hyperoxia test\n", + " definition of HP:6000228 (Failure to increase oxygen saturation on hyperoxia test)\n", + " \n", + " \n", + " Hyperoxia test is the initial method to distinguish critical congenital heart disease (CCHD) from pulmonary disease. The test consists in measuring an arterial blood gas at room air and 100% inspired oxygen after 10 minutes. Neonates with congenital heart disease are usually not able to increase PaO2 above 100 mm Hg during 100% oxygen administration. In patients with pulmonary disease, PaO2 generally increased greater than or equal to 100 mm Hg with 100% oxygen as ventilation-perfusion discrepancies are overcome. A positive result indicates the cardiac origin and further cardiac workup is indicated to rule out CCHD.\n", + " definition of HP:6000228 (Failure to increase oxygen saturation on hyperoxia test)\n", + " \n", + " \n", + " Severe viral infection\n", + " definition of HP:0031691 (Severe viral infection)\n", + " \n", + " \n", + " An unusually severe viral infection.\n", + " definition of HP:0031691 (Severe viral infection)\n", + " \n", + " \n", + " Scleroderma\n", + " definition of HP:0100324 (Scleroderma)\n", + " \n", + " \n", + " A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin.\n", + " definition of HP:0100324 (Scleroderma)\n", + " \n", + " \n", + " #Progressive systemic scleroderma #Pseudoscleroderma\n", + " definition of HP:0100324 (Scleroderma)\n", + " \n", + " \n", + " Temporal lobe megalencephaly\n", + " definition of HP:0034220 (Temporal lobe megalencephaly)\n", + " \n", + " \n", + " Expansion of the temporal lobes of the brain along all axes, including rostrocaudal, superoinferior, and mediolateral, resulting in a globular appearance of the brain.\n", + " definition of HP:0034220 (Temporal lobe megalencephaly)\n", + " \n", + " \n", + " Macroprolactinoma\n", + " definition of HP:0012342 (Macroprolactinoma)\n", + " \n", + " \n", + " A pituitary prolactin cell adenoma of more than 10 mm diameter.\n", + " definition of HP:0012342 (Macroprolactinoma)\n", + " \n", + " \n", + " Periauricular skin pits\n", + " definition of HP:0100277 (Periauricular skin pits)\n", + " \n", + " \n", + " Benign congenital lesions of the periauricular soft tissue consisting of a blind-ending narrow tube or pit.\n", + " definition of HP:0100277 (Periauricular skin pits)\n", + " \n", + " \n", + " #Periauricular earpits #Periauricular fistulas #Periauricular pits #Periauricular sinus #Pits around the ear\n", + " definition of HP:0100277 (Periauricular skin pits)\n", + " \n", + " \n", + " Congenital finger flexion contractures\n", + " definition of HP:0005879 (Congenital finger flexion contractures)\n", + " \n", + " \n", + " Multiple bent (flexed) finger joints that cannot be straightened actively or passively.\n", + " definition of HP:0005879 (Congenital finger flexion contractures)\n", + " \n", + " \n", + " #Congenital finger contractures\n", + " definition of HP:0005879 (Congenital finger flexion contractures)\n", + " \n", + " \n", + " Bracket epiphysis of the proximal phalanx of the hallux\n", + " definition of HP:0010128 (Bracket epiphysis of the proximal phalanx of the hallux)\n", + " \n", + " \n", + " The epiphysis of the proximal phalanx of the hallux surrounds the diaphysis, having a bracket-like form.\n", + " definition of HP:0010128 (Bracket epiphysis of the proximal phalanx of the hallux)\n", + " \n", + " \n", + " #Bracket shaped end part of the innermost bone of big toe\n", + " definition of HP:0010128 (Bracket epiphysis of the proximal phalanx of the hallux)\n", + " \n", + " \n", + " Asymmetric growth\n", + " definition of HP:0100555 (Asymmetric growth)\n", + " \n", + " \n", + " A growth pattern that displays an abnormal difference between the left and the right side.\n", + " definition of HP:0100555 (Asymmetric growth)\n", + " \n", + " \n", + " #Uneven or disproportionate growth of one body part compared to another\n", + " definition of HP:0100555 (Asymmetric growth)\n", + " \n", + " \n", + " Decreased CSF lysine concentration\n", + " definition of HP:0500207 (Decreased CSF lysine concentration)\n", + " \n", + " \n", + " Abnormally decreased levels of lysine in cerebrospinal fluid.\n", + " definition of HP:0500207 (Decreased CSF lysine concentration)\n", + " \n", + " \n", + " #Low lysine levels in cerebrospinal fluid\n", + " definition of HP:0500207 (Decreased CSF lysine concentration)\n", + " \n", + " \n", + " Elevated erythrocyte inosine triphosphate concentration\n", + " definition of HP:6000510 (Elevated erythrocyte inosine triphosphate concentration)\n", + " \n", + " \n", + " Concentration of inosine triphosphate in red blood cells is above the upper limit of normal.\n", + " definition of HP:6000510 (Elevated erythrocyte inosine triphosphate concentration)\n", + " \n", + " \n", + " Neoplasm of fatty tissue\n", + " definition of HP:0200013 (Neoplasm of fatty tissue)\n", + " \n", + " \n", + " A tumor (abnormal growth of tissue) of adipose tissue.\n", + " definition of HP:0200013 (Neoplasm of fatty tissue)\n", + " \n", + " \n", + " #Tumor of fatty tissue #Tumour of fatty tissue\n", + " definition of HP:0200013 (Neoplasm of fatty tissue)\n", + " \n", + " \n", + " Viral encephalitis\n", + " definition of HP:0033993 (Viral encephalitis)\n", + " \n", + " \n", + " An inflammation of brain parenchyma due to infection with a virus. Viral encephalitis can occur as a rare complication of common infections (eg, herpes virus infections) or can occur as a characteristic presentation of rare viruses (eg, rabies virus infection). Encephalitis may be the only neurologic manifestation of infection, or may occur in association with meningitis, myelitis, radiculitis, or neuritis. Viral encephalitis is associated with neurological dysfunction.\n", + " definition of HP:0033993 (Viral encephalitis)\n", + " \n", + " \n", + " Focal cognitive seizure with receptive dysphasia/aphasia\n", + " definition of HP:0032696 (Focal cognitive seizure with receptive dysphasia/aphasia)\n", + " \n", + " \n", + " A focal cognitive seizure characterized by receptive dysphasia / aphasia as the initial semiological manifestation.\n", + " definition of HP:0032696 (Focal cognitive seizure with receptive dysphasia/aphasia)\n", + " \n", + " \n", + " Leung cusp\n", + " definition of HP:0033778 (Leung cusp)\n", + " \n", + " \n", + " An additional cusp located in the middle of the occlusal surface.\n", + " definition of HP:0033778 (Leung cusp)\n", + " \n", + " \n", + " Reduced drug efficacy\n", + " definition of HP:0020173 (Reduced drug efficacy)\n", + " \n", + " \n", + " Decreased response to a drug intervention in comparison to the expected response.\n", + " definition of HP:0020173 (Reduced drug efficacy)\n", + " \n", + " \n", + " #Decreased drug efficacy\n", + " definition of HP:0020173 (Reduced drug efficacy)\n", + " \n", + " \n", + " Polydactyly affecting the 3rd finger\n", + " definition of HP:0009958 (Polydactyly affecting the 3rd finger)\n", + " \n", + " \n", + " #Extra middle finger\n", + " definition of HP:0009958 (Polydactyly affecting the 3rd finger)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the diaphragm\n", + " definition of HP:0010315 (Aplasia/Hypoplasia of the diaphragm)\n", + " \n", + " \n", + " Absence or underdevelopment of the diaphragm.\n", + " definition of HP:0010315 (Aplasia/Hypoplasia of the diaphragm)\n", + " \n", + " \n", + " #Absent/small diaprhagm #Absent/underdeveloped diaprhagm\n", + " definition of HP:0010315 (Aplasia/Hypoplasia of the diaphragm)\n", + " \n", + " \n", + " Calcification of ribs\n", + " definition of HP:0040059 (Calcification of ribs)\n", + " \n", + " \n", + " Apocrine hidrocystoma\n", + " definition of HP:0031454 (Apocrine hidrocystoma)\n", + " \n", + " \n", + " A cystic lesions that forms a benign tumor of an apocrine sweat gland.\n", + " definition of HP:0031454 (Apocrine hidrocystoma)\n", + " \n", + " \n", + " Increased circulating NT-proBNP concentration\n", + " definition of HP:0031185 (Increased circulating NT-proBNP concentration)\n", + " \n", + " \n", + " An elevated level of circulating N-terminal part of the prohormone of B-type natriuretic peptide (BNP).\n", + " definition of HP:0031185 (Increased circulating NT-proBNP concentration)\n", + " \n", + " \n", + " #Increased NT-proBNP level\n", + " definition of HP:0031185 (Increased circulating NT-proBNP concentration)\n", + " \n", + " \n", + " Increased circulating precipitin level\n", + " definition of HP:0033039 (Increased circulating precipitin level)\n", + " \n", + " \n", + " The presence of high titers of antigen-precipitating IgG in the serum.\n", + " definition of HP:0033039 (Increased circulating precipitin level)\n", + " \n", + " \n", + " #Increased level of antigen-precipitating IgG antibodies\n", + " definition of HP:0033039 (Increased circulating precipitin level)\n", + " \n", + " \n", + " X-linked recessive inheritance\n", + " definition of HP:0001419 (X-linked recessive inheritance)\n", + " \n", + " \n", + " A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.\n", + " definition of HP:0001419 (X-linked recessive inheritance)\n", + " \n", + " \n", + " #X-linked recessive\n", + " definition of HP:0001419 (X-linked recessive inheritance)\n", + " \n", + " \n", + " Elevated circulating 3-hydroxylinoleylcarnitine concentration\n", + " definition of HP:0033461 (Elevated circulating 3-hydroxylinoleylcarnitine concentration)\n", + " \n", + " \n", + " Increased concentration of 3-hydroxylinoleylcarnitine in the blood circulation.\n", + " definition of HP:0033461 (Elevated circulating 3-hydroxylinoleylcarnitine concentration)\n", + " \n", + " \n", + " #Elevated plasma 3-OH-Linoleylcarnitine, C18:1-OH\n", + " definition of HP:0033461 (Elevated circulating 3-hydroxylinoleylcarnitine concentration)\n", + " \n", + " \n", + " Abnormal toe morphology\n", + " definition of HP:0001780 (Abnormal toe morphology)\n", + " \n", + " \n", + " An anomaly of a toe.\n", + " definition of HP:0001780 (Abnormal toe morphology)\n", + " \n", + " \n", + " #Abnormalities of the toes #Abnormality of toe\n", + " definition of HP:0001780 (Abnormal toe morphology)\n", + " \n", + " \n", + " Elevated serum acid phosphatase\n", + " definition of HP:0003148 (Elevated serum acid phosphatase)\n", + " \n", + " \n", + " #Acid phosphatase elevated #Elevated serum acid phosphatase\n", + " definition of HP:0003148 (Elevated serum acid phosphatase)\n", + " \n", + " \n", + " Abnormality of von Willebrand factor\n", + " definition of HP:0012146 (Abnormality of von Willebrand factor)\n", + " \n", + " \n", + " Decreased quantity or activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces.\n", + " definition of HP:0012146 (Abnormality of von Willebrand factor)\n", + " \n", + " \n", + " Long neck\n", + " definition of HP:0000472 (Long neck)\n", + " \n", + " \n", + " Increased inferior-superior length of the neck.\n", + " definition of HP:0000472 (Long neck)\n", + " \n", + " \n", + " #Cervical elongation #Elongated neck #Increased cervical length #Increased length of neck #Long neck\n", + " definition of HP:0000472 (Long neck)\n", + " \n", + " \n", + " Bowel irritability\n", + " definition of HP:0033628 (Bowel irritability)\n", + " \n", + " \n", + " Intermittent abdominal pain with diarrhea and/or constipation.\n", + " definition of HP:0033628 (Bowel irritability)\n", + " \n", + " \n", + " Abnormality of angular artery\n", + " definition of HP:3000023 (Abnormality of angular artery)\n", + " \n", + " \n", + " An abnormality of the angular artery, the terminal branch of the facial artery.\n", + " definition of HP:3000023 (Abnormality of angular artery)\n", + " \n", + " \n", + " Recurrent joint dislocation\n", + " definition of HP:0031869 (Recurrent joint dislocation)\n", + " \n", + " \n", + " Dislocation of a given joint repeated times.\n", + " definition of HP:0031869 (Recurrent joint dislocation)\n", + " \n", + " \n", + " #Recurrent joint dislocations\n", + " definition of HP:0031869 (Recurrent joint dislocation)\n", + " \n", + " \n", + " Splinter hemorrhages\n", + " definition of HP:6000139 (Splinter hemorrhages)\n", + " \n", + " \n", + " Thin, red to reddish-brown lines of blood (hemorrhages) under the nails. Splinter hemorrhages run vertically under the nails.\n", + " definition of HP:6000139 (Splinter hemorrhages)\n", + " \n", + " \n", + " Tremor\n", + " definition of HP:0001337 (Tremor)\n", + " \n", + " \n", + " An unintentional, oscillating to-and-fro muscle movement about a joint axis.\n", + " definition of HP:0001337 (Tremor)\n", + " \n", + " \n", + " #Tremor #Tremors\n", + " definition of HP:0001337 (Tremor)\n", + " \n", + " \n", + " Positive CSF Toxoplasma gondii antibody positivity\n", + " definition of HP:6000924 (Positive CSF Toxoplasma gondii antibody positivity)\n", + " \n", + " \n", + " The presence of antibodies in the cerebrospinal fluid (CSF) that react against a component of Toxoplasma gondii.\n", + " definition of HP:6000924 (Positive CSF Toxoplasma gondii antibody positivity)\n", + " \n", + " \n", + " Decreased proportion of naive CD8 T cells\n", + " definition of HP:0410377 (Decreased proportion of naive CD8 T cells)\n", + " \n", + " \n", + " An abnormally reduced proportion of naive CD8 T cells relative to the total number of T cells.\n", + " definition of HP:0410377 (Decreased proportion of naive CD8 T cells)\n", + " \n", + " \n", + " #Reduced proportion of naive CD8 T cells #Reduced proportion of naive thymus-derived CD8-positive, alpha-beta T cells\n", + " definition of HP:0410377 (Decreased proportion of naive CD8 T cells)\n", + " \n", + " \n", + " Abnormal emotional state\n", + " definition of HP:0100851 (Abnormal emotional state)\n", + " \n", + " \n", + " Emotions are complex psychological states that involve three distinct components: a subjective experience, a physiological response, and a behavioral or expressive response. In an abnormal emotional state, an affected individual shows altered intensity, frequency, or duration of emotional experiences.\n", + " definition of HP:0100851 (Abnormal emotional state)\n", + " \n", + " \n", + " #Abnormal emotion processing #Abnormal emotion/affect behavior #Abnormal emotion/affect behaviour #Abnormal mood/emotion/affect #Abnormal mood/emotion/affect/thought #Emotion dysregulation\n", + " definition of HP:0100851 (Abnormal emotional state)\n", + " \n", + " \n", + " Thin glomerular basement membrane\n", + " definition of HP:0012577 (Thin glomerular basement membrane)\n", + " \n", + " \n", + " Decreased thickness of the glomerular basement membrane (GBM), measured from endothelial to visceral epithelial plasma membrane and mainly attributable to a decrease in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations less than that of the normal mean GBM thickness for health age- and sex matched individuals. May be focal or diffuse, although the term thin GBMs generally implies thinning of over 50% of GBMs.\n", + " definition of HP:0012577 (Thin glomerular basement membrane)\n", + " \n", + " \n", + " Squamous cell carcinoma of the skin\n", + " definition of HP:0006739 (Squamous cell carcinoma of the skin)\n", + " \n", + " \n", + " Squamous cell carcinoma of the skin is a malignant tumor of squamous epithelium.\n", + " definition of HP:0006739 (Squamous cell carcinoma of the skin)\n", + " \n", + " \n", + " #Squamous skin carcinoma\n", + " definition of HP:0006739 (Squamous cell carcinoma of the skin)\n", + " \n", + " \n", + " Pulmonary lymphangiomyomatosis\n", + " definition of HP:0012798 (Pulmonary lymphangiomyomatosis)\n", + " \n", + " \n", + " Infiltration of smooth muscle-like cells in lymph vessels as well as the lung (pleura, alveolar septa, bronchi, pulmonary vessels and lymphatics as well as lymph nodes, especially in posterior mediastinum and retroperitoneum). Focal emphysema can develop because of airway narrowing, and the thoracic duct may be obliterated. Pulmonary lymphangiomyomatosis may lead to multiple small cysts with a hamartomatous proliferation of smooth muscle in their walls.\n", + " definition of HP:0012798 (Pulmonary lymphangiomyomatosis)\n", + " \n", + " \n", + " #Pulmonary myomatosis\n", + " definition of HP:0012798 (Pulmonary lymphangiomyomatosis)\n", + " \n", + " \n", + " Lower thoracic kyphosis\n", + " definition of HP:0004633 (Lower thoracic kyphosis)\n", + " \n", + " \n", + " Over curvature of the lower thoracic region, leading to a round back or if sever to a hump.\n", + " definition of HP:0004633 (Lower thoracic kyphosis)\n", + " \n", + " \n", + " #Round mid-back\n", + " definition of HP:0004633 (Lower thoracic kyphosis)\n", + " \n", + " \n", + " Reduced radioactive iodine uptake\n", + " definition of HP:0031219 (Reduced radioactive iodine uptake)\n", + " \n", + " \n", + " A decreased amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker.\n", + " definition of HP:0031219 (Reduced radioactive iodine uptake)\n", + " \n", + " \n", + " Fluctuating\n", + " definition of HP:0031914 (Fluctuating)\n", + " \n", + " \n", + " Varying irregularly over time in severity, amount, or amplitude.\n", + " definition of HP:0031914 (Fluctuating)\n", + " \n", + " \n", + " Increased fecal coproporphyrin 3\n", + " definition of HP:0033010 (Increased fecal coproporphyrin 3)\n", + " \n", + " \n", + " Abnormally high concentration of coproporphyrin 3 in feces\n", + " definition of HP:0033010 (Increased fecal coproporphyrin 3)\n", + " \n", + " \n", + " #Elevated faecal coproporphyrin 3 #Elevated fecal coproporphyrin 3 #Elevated stool coproporphyrin 3 #High faecal coproporphyrin 3 #High fecal coproporphyrin 3 #High stool coproporphyrin 3 #Increased faecal coproporphyrin 3\n", + " definition of HP:0033010 (Increased fecal coproporphyrin 3)\n", + " \n", + " \n", + " Abnormal subcutaneous fat tissue distribution\n", + " definition of HP:0007552 (Abnormal subcutaneous fat tissue distribution)\n", + " \n", + " \n", + " #Abnormal fat tissue distribution below the skin\n", + " definition of HP:0007552 (Abnormal subcutaneous fat tissue distribution)\n", + " \n", + " \n", + " Focal aware autonomic seizure with urge to urinate/defecate\n", + " definition of HP:0032781 (Focal aware autonomic seizure with urge to urinate/defecate)\n", + " \n", + " \n", + " A focal autonomic seizure with urge to urinate / defecate characterized by retained awareness throughout the seizure.\n", + " definition of HP:0032781 (Focal aware autonomic seizure with urge to urinate/defecate)\n", + " \n", + " \n", + " Gingival fragility\n", + " definition of HP:0034518 (Gingival fragility)\n", + " \n", + " \n", + " Gums that are easily damaged.\n", + " definition of HP:0034518 (Gingival fragility)\n", + " \n", + " \n", + " #Gum fragility\n", + " definition of HP:0034518 (Gingival fragility)\n", + " \n", + " \n", + " Proximal scleroderma\n", + " definition of HP:0550003 (Proximal scleroderma)\n", + " \n", + " \n", + " Symmetrical thickening, tightening and induration of the skin of the fingers and the skin proximal to the metacarpophalangeal or metatarsophalangeal joints. These changes can involve the entire limb, face, neck and trunk.\n", + " definition of HP:0550003 (Proximal scleroderma)\n", + " \n", + " \n", + " Decreased lecithin cholesterol acyl transferase level\n", + " definition of HP:0025433 (Decreased lecithin cholesterol acyl transferase level)\n", + " \n", + " \n", + " Reduced level of the enzyme lecithin cholesterol acyl transferase.\n", + " definition of HP:0025433 (Decreased lecithin cholesterol acyl transferase level)\n", + " \n", + " \n", + " Abnormal social emotional interactions\n", + " definition of HP:5200120 (Abnormal social emotional interactions)\n", + " \n", + " \n", + " Social emotional interactions refer to the exchange of feelings during social interactions by means of a wide range of communicative behaviors including facial expressions, body language, and verbal communication. This term refers to an atypically low production of emotion social communication by an individual.\n", + " definition of HP:5200120 (Abnormal social emotional interactions)\n", + " \n", + " \n", + " #Abnormality in emotional social interactions\n", + " definition of HP:5200120 (Abnormal social emotional interactions)\n", + " \n", + " \n", + " Dysplastic tricuspid valve\n", + " definition of HP:0030732 (Dysplastic tricuspid valve)\n", + " \n", + " \n", + " A congenital malformation of the tricuspid valve characterized by leaflet deformation.\n", + " definition of HP:0030732 (Dysplastic tricuspid valve)\n", + " \n", + " \n", + " #Tricuspid valve dysplasia\n", + " definition of HP:0030732 (Dysplastic tricuspid valve)\n", + " \n", + " \n", + " Antineutrophil antibody positivity\n", + " definition of HP:0003453 (Antineutrophil antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies in the serum that react against neutrophils.\n", + " definition of HP:0003453 (Antineutrophil antibody positivity)\n", + " \n", + " \n", + " #Antineutrophil antibodies #Neutrophil antibody positive\n", + " definition of HP:0003453 (Antineutrophil antibody positivity)\n", + " \n", + " \n", + " Duplication of phalanx of hallux\n", + " definition of HP:0010066 (Duplication of phalanx of hallux)\n", + " \n", + " \n", + " Partial or complete duplication of one or more phalanx of big toe.\n", + " definition of HP:0010066 (Duplication of phalanx of hallux)\n", + " \n", + " \n", + " #Duplicated hallux #Duplication of big toe bone #Duplication of great toes #Duplication of phalanx of big toe #Hallucal duplication\n", + " definition of HP:0010066 (Duplication of phalanx of hallux)\n", + " \n", + " \n", + " Anticardiolipin IgM antibody positivity\n", + " definition of HP:0020137 (Anticardiolipin IgM antibody positivity)\n", + " \n", + " \n", + " The presence of circulating IgM autoantibodies to cardiolipin.\n", + " definition of HP:0020137 (Anticardiolipin IgM antibody positivity)\n", + " \n", + " \n", + " Endocardial fibroelastosis\n", + " definition of HP:0001706 (Endocardial fibroelastosis)\n", + " \n", + " \n", + " Diffuse thickening of the ventricular endocardium and by associated myocardial dysfunction\n", + " definition of HP:0001706 (Endocardial fibroelastosis)\n", + " \n", + " \n", + " Urethritis\n", + " definition of HP:0500006 (Urethritis)\n", + " \n", + " \n", + " Inflammation of the urethra.\n", + " definition of HP:0500006 (Urethritis)\n", + " \n", + " \n", + " Perirenal hematoma\n", + " definition of HP:0030171 (Perirenal hematoma)\n", + " \n", + " \n", + " A collection of clotted blood surrounding the kidney.\n", + " definition of HP:0030171 (Perirenal hematoma)\n", + " \n", + " \n", + " Reduced cellular cobalamin uptake\n", + " definition of HP:0034985 (Reduced cellular cobalamin uptake)\n", + " \n", + " \n", + " Diminished ability of cells to transport cobalamine from the extracellular space to the cytoplasm.\n", + " definition of HP:0034985 (Reduced cellular cobalamin uptake)\n", + " \n", + " \n", + " Bladder trabeculation\n", + " definition of HP:0032465 (Bladder trabeculation)\n", + " \n", + " \n", + " Muscular projections that protrude into the lumen of the bladder, criss-crossing the walls of the bladder on its inner surface.\n", + " definition of HP:0032465 (Bladder trabeculation)\n", + " \n", + " \n", + " #Trabecular bladder\n", + " definition of HP:0032465 (Bladder trabeculation)\n", + " \n", + " \n", + " Microscopic hematuria\n", + " definition of HP:0002907 (Microscopic hematuria)\n", + " \n", + " \n", + " Microscopic hematuria detected by dipstick or microscopic examination of the urine.\n", + " definition of HP:0002907 (Microscopic hematuria)\n", + " \n", + " \n", + " #Microhematuria #Occult hematuria #Small amount of blood in urine\n", + " definition of HP:0002907 (Microscopic hematuria)\n", + " \n", + " \n", + " Congenital ptosis\n", + " definition of HP:0007970 (Congenital ptosis)\n", + " \n", + " \n", + " #Congenital drooping upper eyelid\n", + " definition of HP:0007970 (Congenital ptosis)\n", + " \n", + " \n", + " Bilateral cleft palate\n", + " definition of HP:0100337 (Bilateral cleft palate)\n", + " \n", + " \n", + " Nonmidline cleft palate on the left and right sides.\n", + " definition of HP:0100337 (Bilateral cleft palate)\n", + " \n", + " \n", + " #Bilateral palatoschisis #Right and left cleft palate\n", + " definition of HP:0100337 (Bilateral cleft palate)\n", + " \n", + " \n", + " Ameliorated by nerve block\n", + " definition of HP:6000068 (Ameliorated by nerve block)\n", + " \n", + " \n", + " Refers to a sign or symptom that is improved or made more bearable by anesthetic block of a nerve.\n", + " definition of HP:6000068 (Ameliorated by nerve block)\n", + " \n", + " \n", + " Abnormal 5th metacarpal epiphysis morphology\n", + " definition of HP:0010226 (Abnormal 5th metacarpal epiphysis morphology)\n", + " \n", + " \n", + " Any abnormality of the epiphysis of the fifth metacarpal bone.\n", + " definition of HP:0010226 (Abnormal 5th metacarpal epiphysis morphology)\n", + " \n", + " \n", + " #Abnormality of the end part of the long bone of little finger #Abnormality of the end part of the long bone of pinkie finger #Abnormality of the end part of the long bone of pinky finger #Abnormality of the epiphysis of the 5th metacarpal\n", + " definition of HP:0010226 (Abnormal 5th metacarpal epiphysis morphology)\n", + " \n", + " \n", + " Airborn particle hypersensitivity\n", + " definition of HP:0032439 (Airborn particle hypersensitivity)\n", + " \n", + " \n", + " An abnormally increased sensitivity to airborn particles. This can be diagnosed on the basis of the medical history, taking into account seasonality or a relationship to the concentration of airborn particles in the environment of the affected individual. Aerosol challenge is a gold standard of establishment of the symptom. There exist particle hypersensitivity (diesel exhaust, metals, inorganic material) vs. allergen (including pollen dander, etc) hypersensitivity. The responses are usually different and testing for allergen hypersensitivity is done in concert with serum IgE and or skin testing to the suspected allergen.\n", + " definition of HP:0032439 (Airborn particle hypersensitivity)\n", + " \n", + " \n", + " Renal tubular epithelial cell apoptosis\n", + " definition of HP:0032647 (Renal tubular epithelial cell apoptosis)\n", + " \n", + " \n", + " Increased apoptosis (programmed cell death) of tubular epithelial cells. The cells are rounded with increased eosinophilia and contain fragmented, densely basophilic nuclear debris.\n", + " definition of HP:0032647 (Renal tubular epithelial cell apoptosis)\n", + " \n", + " \n", + " Focal cognitive seizure with dissociation\n", + " definition of HP:0032689 (Focal cognitive seizure with dissociation)\n", + " \n", + " \n", + " A focal cognitive seizure characterized by an experience of being disconnected from, though aware of, self or environment as the initial semiological manifestation.\n", + " definition of HP:0032689 (Focal cognitive seizure with dissociation)\n", + " \n", + " \n", + " Decreased alpha-galactosidase A activity\n", + " definition of HP:0034864 (Decreased alpha-galactosidase A activity)\n", + " \n", + " \n", + " Activity of the enzyme alpha-galactosidase outsidebelow the lower limit of normal.\n", + " definition of HP:0034864 (Decreased alpha-galactosidase A activity)\n", + " \n", + " \n", + " Abnormal lymph-node lymphocyte chromatin\n", + " definition of HP:0020282 (Abnormal lymph-node lymphocyte chromatin)\n", + " \n", + " \n", + " Any phenotypic abnormality of the chromatin (complex of DNA and protein which comprises chromosomes) of lymphocytes that are located within a lymph node.\n", + " definition of HP:0020282 (Abnormal lymph-node lymphocyte chromatin)\n", + " \n", + " \n", + " Abnormal hip bone morphology\n", + " definition of HP:0003272 (Abnormal hip bone morphology)\n", + " \n", + " \n", + " An abnormality of the hip bone.\n", + " definition of HP:0003272 (Abnormal hip bone morphology)\n", + " \n", + " \n", + " #Abnormality of the hip bone #Abnormality of the hips\n", + " definition of HP:0003272 (Abnormal hip bone morphology)\n", + " \n", + " \n", + " Intratesticular abscess\n", + " definition of HP:0025038 (Intratesticular abscess)\n", + " \n", + " \n", + " A collection of pus within a testicle. Ultrasonographic features include shaggy, irregular walls, intratesticular location, low-level internal echoes, and occasionally, hypervascular margins.\n", + " definition of HP:0025038 (Intratesticular abscess)\n", + " \n", + " \n", + " #Testicular abscess\n", + " definition of HP:0025038 (Intratesticular abscess)\n", + " \n", + " \n", + " Hypoplasia of facial musculature\n", + " definition of HP:0004660 (Hypoplasia of facial musculature)\n", + " \n", + " \n", + " Underdevelopment of one or more muscles innervated by the facial nerve (the seventh cranial nerve).\n", + " definition of HP:0004660 (Hypoplasia of facial musculature)\n", + " \n", + " \n", + " #Decreased size of facial muscles #Deficiency of facial musculature #Underdevelopment of facial muscles\n", + " definition of HP:0004660 (Hypoplasia of facial musculature)\n", + " \n", + " \n", + " Bullet-shaped proximal phalanx of the 3rd finger\n", + " definition of HP:0009451 (Bullet-shaped proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 3rd finger is affected.\n", + " definition of HP:0009451 (Bullet-shaped proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Bullet-shaped innermost bone of the middle finger\n", + " definition of HP:0009451 (Bullet-shaped proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Tracheal tug on inspiration\n", + " definition of HP:0025008 (Tracheal tug on inspiration)\n", + " \n", + " \n", + " Downward movement of the trachea during inspiration due to downward traction on the tracheobronchial tree.\n", + " definition of HP:0025008 (Tracheal tug on inspiration)\n", + " \n", + " \n", + " Disseminated intravascular coagulation\n", + " definition of HP:0005521 (Disseminated intravascular coagulation)\n", + " \n", + " \n", + " Disseminated intravascular coagulation is characterized by the widespread activation of coagulation, which results in the intravascular formation of fibrin and ultimately thrombotic occlusion of small and midsize vessels.\n", + " definition of HP:0005521 (Disseminated intravascular coagulation)\n", + " \n", + " \n", + " Dysmetria\n", + " definition of HP:0001310 (Dysmetria)\n", + " \n", + " \n", + " A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.\n", + " definition of HP:0001310 (Dysmetria)\n", + " \n", + " \n", + " #Lack of coordination of movement\n", + " definition of HP:0001310 (Dysmetria)\n", + " \n", + " \n", + " Thoracolumbar kyphoscoliosis\n", + " definition of HP:0003423 (Thoracolumbar kyphoscoliosis)\n", + " \n", + " \n", + " #Dorsolumbar kyphosis\n", + " definition of HP:0003423 (Thoracolumbar kyphoscoliosis)\n", + " \n", + " \n", + " Anti-MIT3 antibody positivity\n", + " definition of HP:0034111 (Anti-MIT3 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against MIT3.\n", + " definition of HP:0034111 (Anti-MIT3 antibody positivity)\n", + " \n", + " \n", + " Hooded upper eyelid\n", + " definition of HP:0030822 (Hooded upper eyelid)\n", + " \n", + " \n", + " Upper eyelid partly covered by skin when eyes are open.\n", + " definition of HP:0030822 (Hooded upper eyelid)\n", + " \n", + " \n", + " Vasculitis by histology\n", + " definition of HP:0034785 (Vasculitis by histology)\n", + " \n", + " \n", + " Vasculitis categorized according to type of histological abnormality.\n", + " definition of HP:0034785 (Vasculitis by histology)\n", + " \n", + " \n", + " Bulbar urethral stricture\n", + " definition of HP:0025415 (Bulbar urethral stricture)\n", + " \n", + " \n", + " A type of urethral stricture affecting the bulbar urethra, which is the part of the urethra that traverses the root of the penis.\n", + " definition of HP:0025415 (Bulbar urethral stricture)\n", + " \n", + " \n", + " Hypopituitarism\n", + " definition of HP:0040075 (Hypopituitarism)\n", + " \n", + " \n", + " Abnormal inferior rectus muscle physiology\n", + " definition of HP:0025600 (Abnormal inferior rectus muscle physiology)\n", + " \n", + " \n", + " A functional anomaly of the inferior rectus muscle, which is innervated by the inferior division of oculomotor nerve and functions in the depression, adduction, and lateral rotation (extortion) of the eye.\n", + " definition of HP:0025600 (Abnormal inferior rectus muscle physiology)\n", + " \n", + " \n", + " Hyperkeratosis with erythema\n", + " definition of HP:0007390 (Hyperkeratosis with erythema)\n", + " \n", + " \n", + " Stippling of the epiphysis of the proximal phalanx of the 3rd finger\n", + " definition of HP:0009355 (Stippling of the epiphysis of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 3rd finger.\n", + " definition of HP:0009355 (Stippling of the epiphysis of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Speckled calcifications in end part of innermost long bone of the middle finger\n", + " definition of HP:0009355 (Stippling of the epiphysis of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Recurrent spontaneous abortion\n", + " definition of HP:0200067 (Recurrent spontaneous abortion)\n", + " \n", + " \n", + " Repeated episodes of abortion (Expulsion of the product of fertilization before completing the term of gestation) without deliberate interference.\n", + " definition of HP:0200067 (Recurrent spontaneous abortion)\n", + " \n", + " \n", + " Abnormal hand metaphysis morphology\n", + " definition of HP:0005923 (Abnormal hand metaphysis morphology)\n", + " \n", + " \n", + " #Abnormalities of the metaphyses of the hand #Abnormality of the wide portion of the hand bone\n", + " definition of HP:0005923 (Abnormal hand metaphysis morphology)\n", + " \n", + " \n", + " Delayed calcaneal ossification\n", + " definition of HP:0008142 (Delayed calcaneal ossification)\n", + " \n", + " \n", + " Delayed maturation and calcification of the calcaneus.\n", + " definition of HP:0008142 (Delayed calcaneal ossification)\n", + " \n", + " \n", + " Impaired oral bolus formation\n", + " definition of HP:0031146 (Impaired oral bolus formation)\n", + " \n", + " \n", + " An abnormality of swallowing characterized by reduced tongue coordination to form bolus after chewing. Food material spreads over the oral cavity instead of being concentrated into a bolus that is easily swallowed.\n", + " definition of HP:0031146 (Impaired oral bolus formation)\n", + " \n", + " \n", + " Aerophagia\n", + " definition of HP:6000060 (Aerophagia)\n", + " \n", + " \n", + " Repetitive air swallowing and belching and that may result in abdominal distention.\n", + " definition of HP:6000060 (Aerophagia)\n", + " \n", + " \n", + " Hepatic vascular malformations\n", + " definition of HP:0006576 (Hepatic vascular malformations)\n", + " \n", + " \n", + " #Liver vascular malformations\n", + " definition of HP:0006576 (Hepatic vascular malformations)\n", + " \n", + " \n", + " Renal interstitial non-necrotizing granulomas\n", + " definition of HP:0032643 (Renal interstitial non-necrotizing granulomas)\n", + " \n", + " \n", + " Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present with no necrosis.\n", + " definition of HP:0032643 (Renal interstitial non-necrotizing granulomas)\n", + " \n", + " \n", + " #Renal interstitial non-necrotizing granulomata\n", + " definition of HP:0032643 (Renal interstitial non-necrotizing granulomas)\n", + " \n", + " \n", + " Synovial fluid crystals\n", + " definition of HP:6000248 (Synovial fluid crystals)\n", + " \n", + " \n", + " The presence of crystals (microscopic solids that form distinct lattices, with definable fixed angles, faces, walls) in the joint (synovial) fluid.\n", + " definition of HP:6000248 (Synovial fluid crystals)\n", + " \n", + " \n", + " Elevated circulating alpha-aminobutyric acid concentration\n", + " definition of HP:0033110 (Elevated circulating alpha-aminobutyric acid concentration)\n", + " \n", + " \n", + " An abnormally increased level of alpa-aminobutyric acid in the blood circulation. Alpha-aminobutyric acid alpha-amino acid that is butyric acid bearing a single amino substituent located at position 2.\n", + " definition of HP:0033110 (Elevated circulating alpha-aminobutyric acid concentration)\n", + " \n", + " \n", + " #Elevated circulating homoalanine concentration\n", + " definition of HP:0033110 (Elevated circulating alpha-aminobutyric acid concentration)\n", + " \n", + " \n", + " Hypoautofluorescent retinal lesion\n", + " definition of HP:0025159 (Hypoautofluorescent retinal lesion)\n", + " \n", + " \n", + " Decreased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging.\n", + " definition of HP:0025159 (Hypoautofluorescent retinal lesion)\n", + " \n", + " \n", + " #Hypo-autofluorescent retinal lesion\n", + " definition of HP:0025159 (Hypoautofluorescent retinal lesion)\n", + " \n", + " \n", + " Decreased specific antibody response to protein vaccine\n", + " definition of HP:0410294 (Decreased specific antibody response to protein vaccine)\n", + " \n", + " \n", + " A reduced ability to synthesize postvaccination antibodies against proteins in vaccines, as measured by antibody titer determination following vaccination.\n", + " definition of HP:0410294 (Decreased specific antibody response to protein vaccine)\n", + " \n", + " \n", + " Hypothalamic luteinizing hormone-releasing hormone deficiency\n", + " definition of HP:0012287 (Hypothalamic luteinizing hormone-releasing hormone deficiency)\n", + " \n", + " \n", + " Decreased secretion of luteinizing hormone-releasing hormone by the hypothalamus.\n", + " definition of HP:0012287 (Hypothalamic luteinizing hormone-releasing hormone deficiency)\n", + " \n", + " \n", + " Mammary duct ectasia\n", + " definition of HP:0020224 (Mammary duct ectasia)\n", + " \n", + " \n", + " A non-proliferative inflammatory disorder of the large duct (milk duct) of the breast; as such, it affects nipple and areola complex. The condition is characterized by focal dilatation of the lactiferous duct system is due to endoluminal changes, as well as the loss of duct wall elastin, leading to abnormally dilated and tortuous lactiferous ducts with associated periductal inflammation and fibrosis. Mammary duct ectasia may present with nipple discharge or palpable mass.\n", + " definition of HP:0020224 (Mammary duct ectasia)\n", + " \n", + " \n", + " Abnormal temporal lobe morphology\n", + " definition of HP:0034221 (Abnormal temporal lobe morphology)\n", + " \n", + " \n", + " An abnormal structural of the zone (lobe) of the cerebral cortex that is located inferior to the lateral fissure on other cerebral hemispheres.\n", + " definition of HP:0034221 (Abnormal temporal lobe morphology)\n", + " \n", + " \n", + " Superior lens subluxation\n", + " definition of HP:0008019 (Superior lens subluxation)\n", + " \n", + " \n", + " Partial dislocation of the lens in a superior direction.\n", + " definition of HP:0008019 (Superior lens subluxation)\n", + " \n", + " \n", + " #Superior subluxated lens\n", + " definition of HP:0008019 (Superior lens subluxation)\n", + " \n", + " \n", + " Penile thrush\n", + " definition of HP:0033768 (Penile thrush)\n", + " \n", + " \n", + " Overgrowth of candida albicans in the penis.\n", + " definition of HP:0033768 (Penile thrush)\n", + " \n", + " \n", + " #Penile candidiasis\n", + " definition of HP:0033768 (Penile thrush)\n", + " \n", + " \n", + " Abnormal erythrocyte metabolite concentration\n", + " definition of HP:0034737 (Abnormal erythrocyte metabolite concentration)\n", + " \n", + " \n", + " A deviation from the normal range of a metabolite in red blood cells.\n", + " definition of HP:0034737 (Abnormal erythrocyte metabolite concentration)\n", + " \n", + " \n", + " Obstructive azoospermia\n", + " definition of HP:0011962 (Obstructive azoospermia)\n", + " \n", + " \n", + " Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy.\n", + " definition of HP:0011962 (Obstructive azoospermia)\n", + " \n", + " \n", + " Focal orofacial automatism seizure\n", + " definition of HP:0032899 (Focal orofacial automatism seizure)\n", + " \n", + " \n", + " A type of focal automatism seizure characterized by orofacial automatisms at onset.\n", + " definition of HP:0032899 (Focal orofacial automatism seizure)\n", + " \n", + " \n", + " Koebner Phenomenon\n", + " definition of HP:6000933 (Koebner Phenomenon)\n", + " \n", + " \n", + " The appearance of new skin lesions on previously unaffected skin secondary to trauma. This phenomenon is also termed the isomorphic (from Greek, equal shape) response, given the fact that the new lesions that appear are clinically and histologically identical to the patient's underlying cutaneous disease.\n", + " definition of HP:6000933 (Koebner Phenomenon)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the distal phalanx of the 4th toe\n", + " definition of HP:0100370 (Aplasia/Hypoplasia of the distal phalanx of the 4th toe)\n", + " \n", + " \n", + " #Absent/small outermost bone of 4th toe #Absent/underdeveloped outermost bone of 4th toe\n", + " definition of HP:0100370 (Aplasia/Hypoplasia of the distal phalanx of the 4th toe)\n", + " \n", + " \n", + " Neutrophil inclusion bodies\n", + " definition of HP:0008264 (Neutrophil inclusion bodies)\n", + " \n", + " \n", + " The presence of intracellular inclusion bodies (aggregates of stainable substances, usually proteins) in neutrophils. Cytoplasmic neutrophil inclusions (oval, basophilic) are also known as Doehle bodies.\n", + " definition of HP:0008264 (Neutrophil inclusion bodies)\n", + " \n", + " \n", + " Hypersegmentation of proximal phalanx of third finger\n", + " definition of HP:0011929 (Hypersegmentation of proximal phalanx of third finger)\n", + " \n", + " \n", + " Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the third finger.\n", + " definition of HP:0011929 (Hypersegmentation of proximal phalanx of third finger)\n", + " \n", + " \n", + " Enamel hypoplasia\n", + " definition of HP:0006297 (Enamel hypoplasia)\n", + " \n", + " \n", + " Developmental hypoplasia of the dental enamel.\n", + " definition of HP:0006297 (Enamel hypoplasia)\n", + " \n", + " \n", + " #Dental enamel hypoplasia #Enamel hypotrophy #Enamel, underdeveloped #Hypoplasia of dental enamel #Hypoplasia of tooth enamel #Underdeveloped teeth enamel\n", + " definition of HP:0006297 (Enamel hypoplasia)\n", + " \n", + " \n", + " Histidinuria\n", + " definition of HP:0002927 (Histidinuria)\n", + " \n", + " \n", + " An increased concentration of histidine in the urine.\n", + " definition of HP:0002927 (Histidinuria)\n", + " \n", + " \n", + " #Elevated histidine in urine #High urine histidine levels\n", + " definition of HP:0002927 (Histidinuria)\n", + " \n", + " \n", + " Abnormal periosteum morphology\n", + " definition of HP:0030313 (Abnormal periosteum morphology)\n", + " \n", + " \n", + " An anomalous structure of the periosteum, i.e., of the membrane that covers the outer surface of bones.\n", + " definition of HP:0030313 (Abnormal periosteum morphology)\n", + " \n", + " \n", + " Pili canaliculi\n", + " definition of HP:0002235 (Pili canaliculi)\n", + " \n", + " \n", + " A characteristic triangular, kidney- or heat-shaped diameter of hair shafts with typical longitudinal canalicular deformation as observable by scanning electron microscopy.\n", + " definition of HP:0002235 (Pili canaliculi)\n", + " \n", + " \n", + " Mucinous gastric carcinoma\n", + " definition of HP:0031498 (Mucinous gastric carcinoma)\n", + " \n", + " \n", + " A poorly differentiated type of gastric carcinoma with a substantial amount of extracellular mucus (over 50% of tumor volume) within the tumor.\n", + " definition of HP:0031498 (Mucinous gastric carcinoma)\n", + " \n", + " \n", + " Abnormal play\n", + " definition of HP:5200104 (Abnormal play)\n", + " \n", + " \n", + " An abnormality in a child's ability play.\n", + " definition of HP:5200104 (Abnormal play)\n", + " \n", + " \n", + " Malignant eosinophil proliferation\n", + " definition of HP:0006782 (Malignant eosinophil proliferation)\n", + " \n", + " \n", + " Irregular epiphysis of the proximal phalanx of the thumb\n", + " definition of HP:0009669 (Irregular epiphysis of the proximal phalanx of the thumb)\n", + " \n", + " \n", + " Irregular radiographic opacity of the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.\n", + " definition of HP:0009669 (Irregular epiphysis of the proximal phalanx of the thumb)\n", + " \n", + " \n", + " #Irregular end part of thumb innermost long bone\n", + " definition of HP:0009669 (Irregular epiphysis of the proximal phalanx of the thumb)\n", + " \n", + " \n", + " Combined cystic and ground-glass pattern on pulmonary HRCT\n", + " definition of HP:0025395 (Combined cystic and ground-glass pattern on pulmonary HRCT)\n", + " \n", + " \n", + " Co-occurrence of the cystic pattern and the ground-glass pattern on pulmonary high-resolution computed tomography,\n", + " definition of HP:0025395 (Combined cystic and ground-glass pattern on pulmonary HRCT)\n", + " \n", + " \n", + " Limb pain\n", + " definition of HP:0009763 (Limb pain)\n", + " \n", + " \n", + " Chronic pain in the limbs with no clear focal etiology.\n", + " definition of HP:0009763 (Limb pain)\n", + " \n", + " \n", + " #Limb pain\n", + " definition of HP:0009763 (Limb pain)\n", + " \n", + " \n", + " Prolonged Russell's viper venom time\n", + " definition of HP:0040244 (Prolonged Russell's viper venom time)\n", + " \n", + " \n", + " Increased time to coagulation in the Russell's viper venom assay\n", + " definition of HP:0040244 (Prolonged Russell's viper venom time)\n", + " \n", + " \n", + " Increased circulating androstenedione concentration\n", + " definition of HP:0025380 (Increased circulating androstenedione concentration)\n", + " \n", + " \n", + " Increased concentration of androstenedione in the blood circulation.\n", + " definition of HP:0025380 (Increased circulating androstenedione concentration)\n", + " \n", + " \n", + " #Increased serum androstenedione\n", + " definition of HP:0025380 (Increased circulating androstenedione concentration)\n", + " \n", + " \n", + " Bilateral alveolar cleft of maxilla\n", + " definition of HP:0410034 (Bilateral alveolar cleft of maxilla)\n", + " \n", + " \n", + " Nonmidline alveolar cleft of the maxilla.\n", + " definition of HP:0410034 (Bilateral alveolar cleft of maxilla)\n", + " \n", + " \n", + " Nasal regurgitation\n", + " definition of HP:0011469 (Nasal regurgitation)\n", + " \n", + " \n", + " Regurgitation of milk through the nose.\n", + " definition of HP:0011469 (Nasal regurgitation)\n", + " \n", + " \n", + " Abnormal motor neuron morphology\n", + " definition of HP:0002450 (Abnormal motor neuron morphology)\n", + " \n", + " \n", + " Any structural anomaly that affects the motor neuron.\n", + " definition of HP:0002450 (Abnormal motor neuron morphology)\n", + " \n", + " \n", + " #Abnormal shape of motor neuron\n", + " definition of HP:0002450 (Abnormal motor neuron morphology)\n", + " \n", + " \n", + " Abnormal glomerular mesangial matrix morphology\n", + " definition of HP:0033232 (Abnormal glomerular mesangial matrix morphology)\n", + " \n", + " \n", + " Any structural anomaly of the glomerular matrix. Mesangial cells generate and embed in their own extracellular matrix. The mesangial matrix is different in composition from the glomerular basement membrane. Its constituents are type IV collagen (but only the alpha1 and alpha2 chains); type V collagen; laminin A, B1, and B2; and considerable amounts of fibronectin, heparan sulfate and chondroitin sulfate proteoglycans, entactin, and nidogen. Furthermore, small amounts of the proteoglycans decorin and biglycan are found in the mesangial matrix.\n", + " definition of HP:0033232 (Abnormal glomerular mesangial matrix morphology)\n", + " \n", + " \n", + " Progeroid facial appearance\n", + " definition of HP:0005328 (Progeroid facial appearance)\n", + " \n", + " \n", + " A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance.\n", + " definition of HP:0005328 (Progeroid facial appearance)\n", + " \n", + " \n", + " #Aged facial appearance #Premature aged appearance #Prematurely aged face #Prematurely aged facial appearance #Wizened face\n", + " definition of HP:0005328 (Progeroid facial appearance)\n", + " \n", + " \n", + " Aortic valve atresia\n", + " definition of HP:0010883 (Aortic valve atresia)\n", + " \n", + " \n", + " A congenital disorder of the aortic valve in which the orifice of the valve fails to develop.\n", + " definition of HP:0010883 (Aortic valve atresia)\n", + " \n", + " \n", + " #Aortic atresia\n", + " definition of HP:0010883 (Aortic valve atresia)\n", + " \n", + " \n", + " Tubular jejunal duplication\n", + " definition of HP:6001035 (Tubular jejunal duplication)\n", + " \n", + " \n", + " A segment of the jejunum that runs parallel to the normal jejunum and communicates with the jejunal lumen at one or both ends.\n", + " definition of HP:6001035 (Tubular jejunal duplication)\n", + " \n", + " \n", + " Bleeding ameliorated by vitamin K\n", + " definition of HP:4000177 (Bleeding ameliorated by vitamin K)\n", + " \n", + " \n", + " Applies to bleeding that is significantly reduced by treatment with vitamin K.\n", + " definition of HP:4000177 (Bleeding ameliorated by vitamin K)\n", + " \n", + " \n", + " #Vitamin K treatment reduces bleeding significantly\n", + " definition of HP:4000177 (Bleeding ameliorated by vitamin K)\n", + " \n", + " \n", + " Episodic hemolytic anemia\n", + " definition of HP:0004802 (Episodic hemolytic anemia)\n", + " \n", + " \n", + " A form of hemolytic anemia that occurs in repeated episodes.\n", + " definition of HP:0004802 (Episodic hemolytic anemia)\n", + " \n", + " \n", + " #Episodic hemolysis #Episodic hemolytic anaemia\n", + " definition of HP:0004802 (Episodic hemolytic anemia)\n", + " \n", + " \n", + " Subretinal hyporeflective spaces on macular OCT\n", + " definition of HP:0030624 (Subretinal hyporeflective spaces on macular OCT)\n", + " \n", + " \n", + " Eyelid coloboma\n", + " definition of HP:0000625 (Eyelid coloboma)\n", + " \n", + " \n", + " A short discontinuity of the margin of the lower or upper eyelid.\n", + " definition of HP:0000625 (Eyelid coloboma)\n", + " \n", + " \n", + " #Cleft eyelid #Full thickness defect of the eyelid #Notched eyelid\n", + " definition of HP:0000625 (Eyelid coloboma)\n", + " \n", + " \n", + " Chronic leukemia\n", + " definition of HP:0005558 (Chronic leukemia)\n", + " \n", + " \n", + " A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia.\n", + " definition of HP:0005558 (Chronic leukemia)\n", + " \n", + " \n", + " #Chronic leukaemia\n", + " definition of HP:0005558 (Chronic leukemia)\n", + " \n", + " \n", + " Molar incisor malformation\n", + " definition of HP:0033783 (Molar incisor malformation)\n", + " \n", + " \n", + " Molar incisor malfomation (MIM) is composed of normal crown with marked cervical constriction, thin, narrow short roots which is a combination of signs that occurs in deciduous and permanent molars.\n", + " definition of HP:0033783 (Molar incisor malformation)\n", + " \n", + " \n", + " Craniofacial dysostosis\n", + " definition of HP:0004439 (Craniofacial dysostosis)\n", + " \n", + " \n", + " A characteristic appearance resulting from defective ossification of craniofacial bones.\n", + " definition of HP:0004439 (Craniofacial dysostosis)\n", + " \n", + " \n", + " #Crouzon syndrome\n", + " definition of HP:0004439 (Craniofacial dysostosis)\n", + " \n", + " \n", + " Shoulder abduction contracture\n", + " definition of HP:0034990 (Shoulder abduction contracture)\n", + " \n", + " \n", + " #Abduction contracture of the shoulder\n", + " definition of HP:0034990 (Shoulder abduction contracture)\n", + " \n", + " \n", + " Large keratohyaline granules\n", + " definition of HP:0034927 (Large keratohyaline granules)\n", + " \n", + " \n", + " Abnormally large keratohyalin granules (KHG). KHG are typically present in the stratum granulosum of the epidermal layer of the skin (and epithelium of the mucosae). KHG are protein structures found in the keratinocytes of the stratum granulosum.\n", + " definition of HP:0034927 (Large keratohyaline granules)\n", + " \n", + " \n", + " Abnormality of pulmonary circulation\n", + " definition of HP:0030875 (Abnormality of pulmonary circulation)\n", + " \n", + " \n", + " A functional anomaly of that portion of the cardiosvascular system that carries deoxygenated blood from the heart to the lungs and returns oxygenated blood back to the heart.\n", + " definition of HP:0030875 (Abnormality of pulmonary circulation)\n", + " \n", + " \n", + " #Abnormal pulmonary circulation #Abnormality of respiratory circulation\n", + " definition of HP:0030875 (Abnormality of pulmonary circulation)\n", + " \n", + " \n", + " Abnormal circulating lactate dehydrogenase concentration\n", + " definition of HP:0045040 (Abnormal circulating lactate dehydrogenase concentration)\n", + " \n", + " \n", + " A deviation from the normal serum concentration/activity of lactate dehydrogenase (LDH), which catalyzes the reduction of pyruvate to form lactate.\n", + " definition of HP:0045040 (Abnormal circulating lactate dehydrogenase concentration)\n", + " \n", + " \n", + " #Abnormal circulating LDH concentration #Abnormal lactate dehydrogenase level #Abnormal LDH level #AbnormalLDH level\n", + " definition of HP:0045040 (Abnormal circulating lactate dehydrogenase concentration)\n", + " \n", + " \n", + " Abnormal brain morphology\n", + " definition of HP:0012443 (Abnormal brain morphology)\n", + " \n", + " \n", + " A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain.\n", + " definition of HP:0012443 (Abnormal brain morphology)\n", + " \n", + " \n", + " #Abnormal shape of brain #Abnormality of brain morphology #Abnormality of the brain\n", + " definition of HP:0012443 (Abnormal brain morphology)\n", + " \n", + " \n", + " Giant platelets\n", + " definition of HP:0001902 (Giant platelets)\n", + " \n", + " \n", + " Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998).\n", + " definition of HP:0001902 (Giant platelets)\n", + " \n", + " \n", + " Focal aware manual automatism seizure\n", + " definition of HP:0032912 (Focal aware manual automatism seizure)\n", + " \n", + " \n", + " A type of focal automatism seizure characterized by manual automatisms at onset and during which awareness is fully retained throughout.\n", + " definition of HP:0032912 (Focal aware manual automatism seizure)\n", + " \n", + " \n", + " Extension contracture of finger\n", + " definition of HP:0034682 (Extension contracture of finger)\n", + " \n", + " \n", + " A type of finger joint contracture in which the joint lacks full expected flexion, so that the two bony segments on either side of their connecting joint cannot be brought together.\n", + " definition of HP:0034682 (Extension contracture of finger)\n", + " \n", + " \n", + " Shoulder pain\n", + " definition of HP:0030834 (Shoulder pain)\n", + " \n", + " \n", + " An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the shoulder.\n", + " definition of HP:0030834 (Shoulder pain)\n", + " \n", + " \n", + " #Shoulder pain\n", + " definition of HP:0030834 (Shoulder pain)\n", + " \n", + " \n", + " Increased cardiac output\n", + " definition of HP:0033533 (Increased cardiac output)\n", + " \n", + " \n", + " An increased volume of blood pumped by the left and right ventricle, per unit time. Cardiac output (CO) is the product of the heart rate (HR), i.e. the number of heartbeats per minute (bpm), and the stroke volume (SV), which is the volume of blood pumped from the ventricle per beat.\n", + " definition of HP:0033533 (Increased cardiac output)\n", + " \n", + " \n", + " Upper eyelid laxity\n", + " definition of HP:0032034 (Upper eyelid laxity)\n", + " \n", + " \n", + " Abnormally lax upper eyelid associated with tissue relaxation.\n", + " definition of HP:0032034 (Upper eyelid laxity)\n", + " \n", + " \n", + " Abnormality of the cochlear nerve\n", + " definition of HP:0011396 (Abnormality of the cochlear nerve)\n", + " \n", + " \n", + " Any anomaly of the cohclear nerve, which is the part of the vestibulocochlear nerve that is responsible for transmitting auditory signals from the inner ear to the cochlear nuclei within the brainstem and ultimately to the primary auditory cortex within the temporal lobe.\n", + " definition of HP:0011396 (Abnormality of the cochlear nerve)\n", + " \n", + " \n", + " Fragmented epiphyses of the upper limbs\n", + " definition of HP:0003841 (Fragmented epiphyses of the upper limbs)\n", + " \n", + " \n", + " #Fragmented end part of upper limb bones\n", + " definition of HP:0003841 (Fragmented epiphyses of the upper limbs)\n", + " \n", + " \n", + " Mucinous histiocytosis\n", + " definition of HP:0040138 (Mucinous histiocytosis)\n", + " \n", + " \n", + " Multiple subcutaneous non-fragile and skin-coloured papules characterized by interstitial infiltrate of spindle and epithelioid histiocytes, and mucin. There are well circumscribed aggregates of epithelioid histiocytes and mucin in the upper and middle dermis,with the histiocytes arranged between collagen bundles and separated from the epidermis by a Grenz zone.\n", + " definition of HP:0040138 (Mucinous histiocytosis)\n", + " \n", + " \n", + " #Histiocytosis, mucinous\n", + " definition of HP:0040138 (Mucinous histiocytosis)\n", + " \n", + " \n", + " Decreased post-bronchodilator forced expiratory volume in one second\n", + " definition of HP:0032358 (Decreased post-bronchodilator forced expiratory volume in one second)\n", + " \n", + " \n", + " An abnormal reduction in the amount of air a person can forcefully expel in one second, with the test being performed after the administration of a bronchodilating medication.\n", + " definition of HP:0032358 (Decreased post-bronchodilator forced expiratory volume in one second)\n", + " \n", + " \n", + " #Decreased post bronchodilator forced expiratory volume in one second #Decreased postbronchodilator forced expiratory volume in one second\n", + " definition of HP:0032358 (Decreased post-bronchodilator forced expiratory volume in one second)\n", + " \n", + " \n", + " Papule\n", + " definition of HP:0200034 (Papule)\n", + " \n", + " \n", + " A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point.\n", + " definition of HP:0200034 (Papule)\n", + " \n", + " \n", + " #Papules\n", + " definition of HP:0200034 (Papule)\n", + " \n", + " \n", + " Hypoplasia of the pharynx\n", + " definition of HP:0009555 (Hypoplasia of the pharynx)\n", + " \n", + " \n", + " Underdevelopment of the pharynx.\n", + " definition of HP:0009555 (Hypoplasia of the pharynx)\n", + " \n", + " \n", + " #Decreased size of pharynx #Underdevelopment of pharynx\n", + " definition of HP:0009555 (Hypoplasia of the pharynx)\n", + " \n", + " \n", + " Osteolytic defects of the phalanges of the 2nd toe\n", + " definition of HP:0010351 (Osteolytic defects of the phalanges of the 2nd toe)\n", + " \n", + " \n", + " Cow milk allergy\n", + " definition of HP:0100327 (Cow milk allergy)\n", + " \n", + " \n", + " Hypersensitivity in form of an adverse immune reaction against cow milk protein.\n", + " definition of HP:0100327 (Cow milk allergy)\n", + " \n", + " \n", + " #Cow milk allergy #IgE-mediated cow milk allergy #Immunoglobulin E-mediated cow milk allergy #Milk allergy\n", + " definition of HP:0100327 (Cow milk allergy)\n", + " \n", + " \n", + " Thick upper lip vermilion\n", + " definition of HP:0000215 (Thick upper lip vermilion)\n", + " \n", + " \n", + " Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective).\n", + " definition of HP:0000215 (Thick upper lip vermilion)\n", + " \n", + " \n", + " #Full upper lip #Full upper lip vermilion #Increased height of upper lip vermilion #Increased volume of upper lip #Increased volume of upper lip vermilion #Plump upper lip #Prominent upper lip #Thick upper lip #Thick vermilion border of upper lip\n", + " definition of HP:0000215 (Thick upper lip vermilion)\n", + " \n", + " \n", + " Scleral rupture\n", + " definition of HP:0025513 (Scleral rupture)\n", + " \n", + " \n", + " Breakage of the sclera.\n", + " definition of HP:0025513 (Scleral rupture)\n", + " \n", + " \n", + " Abnormal QRS complex\n", + " definition of HP:0025074 (Abnormal QRS complex)\n", + " \n", + " \n", + " An anomaly of the complex formed by the Q, R, and S waves, which occur in rapid succession on the electrocardiogram.\n", + " definition of HP:0025074 (Abnormal QRS complex)\n", + " \n", + " \n", + " Reduced circulating cortisol-binding globulin concentration\n", + " definition of HP:6000243 (Reduced circulating cortisol-binding globulin concentration)\n", + " \n", + " \n", + " The concentration of cortisol-binding globulin in the blood circulation is below the lower limit of normal.\n", + " definition of HP:6000243 (Reduced circulating cortisol-binding globulin concentration)\n", + " \n", + " \n", + " Prolonged N1 sleep\n", + " definition of HP:5200357 (Prolonged N1 sleep)\n", + " \n", + " \n", + " Increased duration of phase N1 of nonrapid eye movement (NREM) sleep.\n", + " definition of HP:5200357 (Prolonged N1 sleep)\n", + " \n", + " \n", + " Hyperchloriduria\n", + " definition of HP:0002914 (Hyperchloriduria)\n", + " \n", + " \n", + " An increased concentration of chloride in the urine.\n", + " definition of HP:0002914 (Hyperchloriduria)\n", + " \n", + " \n", + " #Increased urinary chloride\n", + " definition of HP:0002914 (Hyperchloriduria)\n", + " \n", + " \n", + " Abnormal presence of ultra-large von Willebrand factor multimers\n", + " definition of HP:0030133 (Abnormal presence of ultra-large von Willebrand factor multimers)\n", + " \n", + " \n", + " Detection of abnormal ultra-large von Willebrand factor multimers.\n", + " definition of HP:0030133 (Abnormal presence of ultra-large von Willebrand factor multimers)\n", + " \n", + " \n", + " Reduced reticular lamina anchoring fibril density\n", + " definition of HP:0035000 (Reduced reticular lamina anchoring fibril density)\n", + " \n", + " \n", + " Diminished amount of the anchoring fibrils in the basement membrane zone that normally attach the epithelium to the basement membrane.\n", + " definition of HP:0035000 (Reduced reticular lamina anchoring fibril density)\n", + " \n", + " \n", + " Osteomalacia\n", + " definition of HP:0002749 (Osteomalacia)\n", + " \n", + " \n", + " Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets.\n", + " definition of HP:0002749 (Osteomalacia)\n", + " \n", + " \n", + " #Softening of the bones\n", + " definition of HP:0002749 (Osteomalacia)\n", + " \n", + " \n", + " Pulsatile liver\n", + " definition of HP:6000039 (Pulsatile liver)\n", + " \n", + " \n", + " Cardiac synchronous pulsation on palpation.\n", + " definition of HP:6000039 (Pulsatile liver)\n", + " \n", + " \n", + " Adrenal pheochromocytoma\n", + " definition of HP:0006748 (Adrenal pheochromocytoma)\n", + " \n", + " \n", + " Pheochromocytoma originating from the adrenal medulla.\n", + " definition of HP:0006748 (Adrenal pheochromocytoma)\n", + " \n", + " \n", + " #Pheochromocytoma, adrenal #Pheochromocytomas, adrenal\n", + " definition of HP:0006748 (Adrenal pheochromocytoma)\n", + " \n", + " \n", + " Duodenal stenosis\n", + " definition of HP:0100867 (Duodenal stenosis)\n", + " \n", + " \n", + " The narrowing or partial blockage of a portion of the duodenum.\n", + " definition of HP:0100867 (Duodenal stenosis)\n", + " \n", + " \n", + " #Duodenal stenosis/atresia\n", + " definition of HP:0100867 (Duodenal stenosis)\n", + " \n", + " \n", + " Neck teratoma\n", + " definition of HP:0034563 (Neck teratoma)\n", + " \n", + " \n", + " A teratoma located in the neck.\n", + " definition of HP:0034563 (Neck teratoma)\n", + " \n", + " \n", + " Hyperinsulinemic hypoglycemia\n", + " definition of HP:0000825 (Hyperinsulinemic hypoglycemia)\n", + " \n", + " \n", + " An increased concentration of insulin combined with a decreased concentration of glucose in the blood.\n", + " definition of HP:0000825 (Hyperinsulinemic hypoglycemia)\n", + " \n", + " \n", + " #Hyperinsulinaemic hypoglycaemia #Hyperinsulinemia hypoglycemia\n", + " definition of HP:0000825 (Hyperinsulinemic hypoglycemia)\n", + " \n", + " \n", + " Absence of CD4-positive, CD25-positive regulatory T cells\n", + " definition of HP:0030336 (Absence of CD4-positive, CD25-positive regulatory T cells)\n", + " \n", + " \n", + " Lack of CD4+CD25+ T regulatory cells.\n", + " definition of HP:0030336 (Absence of CD4-positive, CD25-positive regulatory T cells)\n", + " \n", + " \n", + " #Absence of CD4+CD25+ T regulatory cells #Absence of CD4+CD25+ Tregs\n", + " definition of HP:0030336 (Absence of CD4-positive, CD25-positive regulatory T cells)\n", + " \n", + " \n", + " Factor XIII subunit B deficiency\n", + " definition of HP:0040234 (Factor XIII subunit B deficiency)\n", + " \n", + " \n", + " Deficiency of factor XIII subunit B, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot.\n", + " definition of HP:0040234 (Factor XIII subunit B deficiency)\n", + " \n", + " \n", + " #Reduced factor XIII, subunit B\n", + " definition of HP:0040234 (Factor XIII subunit B deficiency)\n", + " \n", + " \n", + " Abnormal olfactory lobe morphology\n", + " definition of HP:0025057 (Abnormal olfactory lobe morphology)\n", + " \n", + " \n", + " A structural anomaly of the olfactory lobe, the structure within the brain that receives neural input from the nasal cavity and thereby processes the sense of smell.\n", + " definition of HP:0025057 (Abnormal olfactory lobe morphology)\n", + " \n", + " \n", + " #Abnormality of olfactory lobe morphology\n", + " definition of HP:0025057 (Abnormal olfactory lobe morphology)\n", + " \n", + " \n", + " Neonatal omphalitis\n", + " definition of HP:0032435 (Neonatal omphalitis)\n", + " \n", + " \n", + " An infection of the umbilicus and/or surrounding tissues occurring in the neonatal period.\n", + " definition of HP:0032435 (Neonatal omphalitis)\n", + " \n", + " \n", + " #Omphalitis #Umbilical cord stump infection\n", + " definition of HP:0032435 (Neonatal omphalitis)\n", + " \n", + " \n", + " Maternal folate deficiency\n", + " definition of HP:6000165 (Maternal folate deficiency)\n", + " \n", + " \n", + " The mother of a fetus or index patient has a history of folate deficiency during the corresponding pregnancy.\n", + " definition of HP:6000165 (Maternal folate deficiency)\n", + " \n", + " \n", + " Myelomeningocele\n", + " definition of HP:0002475 (Myelomeningocele)\n", + " \n", + " \n", + " Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column.\n", + " definition of HP:0002475 (Myelomeningocele)\n", + " \n", + " \n", + " #Meningomyelocele #Spina bifida cystica\n", + " definition of HP:0002475 (Myelomeningocele)\n", + " \n", + " \n", + " Fatiguable weakness of proximal limb muscles\n", + " definition of HP:0030200 (Fatiguable weakness of proximal limb muscles)\n", + " \n", + " \n", + " A type of weakness of a skeletal muscle of proximal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.\n", + " definition of HP:0030200 (Fatiguable weakness of proximal limb muscles)\n", + " \n", + " \n", + " Focal impaired awareness sensory seizure\n", + " definition of HP:0032787 (Focal impaired awareness sensory seizure)\n", + " \n", + " \n", + " A focal sensory seizure in which awareness is partially or fully impaired at some point during the seizure.\n", + " definition of HP:0032787 (Focal impaired awareness sensory seizure)\n", + " \n", + " \n", + " Periungual erythema\n", + " definition of HP:0033425 (Periungual erythema)\n", + " \n", + " \n", + " Erythema (redness of the skin caused by hyperemia in superficial capillaries) in the region surrounding a fingernail or toe nail.\n", + " definition of HP:0033425 (Periungual erythema)\n", + " \n", + " \n", + " Increased KCO\n", + " definition of HP:0033373 (Increased KCO)\n", + " \n", + " \n", + " Increased diffusion capacity of the lung for carbon monoxide (CO) rate constant (efficiency index).\n", + " definition of HP:0033373 (Increased KCO)\n", + " \n", + " \n", + " Muscular dystrophy\n", + " definition of HP:0003560 (Muscular dystrophy)\n", + " \n", + " \n", + " The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities.\n", + " definition of HP:0003560 (Muscular dystrophy)\n", + " \n", + " \n", + " Atlantoaxial abnormality\n", + " definition of HP:0003413 (Atlantoaxial abnormality)\n", + " \n", + " \n", + " An anomaly of the atlantoaxial joint, i.e., of the joint between the first (atlas) and second (axis) cervical vertebrae.\n", + " definition of HP:0003413 (Atlantoaxial abnormality)\n", + " \n", + " \n", + " Retinal vascular malformation\n", + " definition of HP:0007797 (Retinal vascular malformation)\n", + " \n", + " \n", + " Widely patent coronal suture\n", + " definition of HP:0005442 (Widely patent coronal suture)\n", + " \n", + " \n", + " The presence of a coronal suture (the cranial suture that separates the frontal and parietal bones) that is not ossified but rather wide open at an age when it is normally closed.\n", + " definition of HP:0005442 (Widely patent coronal suture)\n", + " \n", + " \n", + " Appendicitis\n", + " definition of HP:6000143 (Appendicitis)\n", + " \n", + " \n", + " Appendicitis is inflammation of the vermiform appendix. Appendix a hollow organ located at the tip of the cecum, usually in the right lower quadrant of the abdomen.\n", + " definition of HP:6000143 (Appendicitis)\n", + " \n", + " \n", + " Discrete 2 to 5-mm hyper- and hypopigmented macules\n", + " definition of HP:0007494 (Discrete 2 to 5-mm hyper- and hypopigmented macules)\n", + " \n", + " \n", + " Cerebral hyaline bodies\n", + " definition of HP:0100319 (Cerebral hyaline bodies)\n", + " \n", + " \n", + " Cerebral eosinophilic, discrete, intracytoplasmatic inclusions of unknown significance.\n", + " definition of HP:0100319 (Cerebral hyaline bodies)\n", + " \n", + " \n", + " #Cerebral colloid bodies\n", + " definition of HP:0100319 (Cerebral hyaline bodies)\n", + " \n", + " \n", + " Spinal extradural arachnoid cyst\n", + " definition of HP:6000849 (Spinal extradural arachnoid cyst)\n", + " \n", + " \n", + " Spinal extradural arachnoid cyst is a cyst in the spinal canal that protrudes into the epidural space from a defect in the dura mater.\n", + " definition of HP:6000849 (Spinal extradural arachnoid cyst)\n", + " \n", + " \n", + " #SEDAC\n", + " definition of HP:6000849 (Spinal extradural arachnoid cyst)\n", + " \n", + " \n", + " Abnormal platelet phosphatidylserine exposure\n", + " definition of HP:0031131 (Abnormal platelet phosphatidylserine exposure)\n", + " \n", + " \n", + " An abnormality of phosphatidylserine (PS) on activated platelets. PS is normally located on the cytoplasmic face of the resting platelet membrane but appears on the plasma-oriented surface of discrete membrane vesicles that derive from activated platelets. Thrombin, the central molecule of coagulation, is produced from prothrombin by a complex (prothrombinase) between factor Xa and its protein cofactor (factor V(a)) that forms on platelet-derived membranes. This complex enhances the rate of activation of prothrombin to thrombin by roughly 150,000 fold relative to factor X(a) in solution. The negatively charged surface of PS-containing platelet-derived membranes is at least partly responsible for this rate enhancement.\n", + " definition of HP:0031131 (Abnormal platelet phosphatidylserine exposure)\n", + " \n", + " \n", + " Shortening of all metacarpals\n", + " definition of HP:0005720 (Shortening of all metacarpals)\n", + " \n", + " \n", + " Abnormal reduction in length of all metacarpal bones.\n", + " definition of HP:0005720 (Shortening of all metacarpals)\n", + " \n", + " \n", + " Multiple bony cystic lesions\n", + " definition of HP:0012065 (Multiple bony cystic lesions)\n", + " \n", + " \n", + " Presence of multiple cystic changes in multiple areas or multiple bones.\n", + " definition of HP:0012065 (Multiple bony cystic lesions)\n", + " \n", + " \n", + " #Multiple bony cystic lesions\n", + " definition of HP:0012065 (Multiple bony cystic lesions)\n", + " \n", + " \n", + " Dysplastic pulmonary valve\n", + " definition of HP:0005164 (Dysplastic pulmonary valve)\n", + " \n", + " \n", + " A congenital malformation of the pulmonary valve characterized by leaflet deformation.\n", + " definition of HP:0005164 (Dysplastic pulmonary valve)\n", + " \n", + " \n", + " #Dysplasia of pulmonary valve #Pulmonary valve dysplasia\n", + " definition of HP:0005164 (Dysplastic pulmonary valve)\n", + " \n", + " \n", + " Milia\n", + " definition of HP:0001056 (Milia)\n", + " \n", + " \n", + " Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin.\n", + " definition of HP:0001056 (Milia)\n", + " \n", + " \n", + " #Milk spot #Millium cyst\n", + " definition of HP:0001056 (Milia)\n", + " \n", + " \n", + " Symphalangism affecting the distal phalanx of the 4th toe\n", + " definition of HP:0100477 (Symphalangism affecting the distal phalanx of the 4th toe)\n", + " \n", + " \n", + " #Fused outermost bone of the 4th toe\n", + " definition of HP:0100477 (Symphalangism affecting the distal phalanx of the 4th toe)\n", + " \n", + " \n", + " Dry skin\n", + " definition of HP:0000958 (Dry skin)\n", + " \n", + " \n", + " Skin characterized by the lack of natural or normal moisture.\n", + " definition of HP:0000958 (Dry skin)\n", + " \n", + " \n", + " #Dry skin #Xerosis\n", + " definition of HP:0000958 (Dry skin)\n", + " \n", + " \n", + " Anti-reticulin antibody positivity\n", + " definition of HP:4000030 (Anti-reticulin antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against reticulin.\n", + " definition of HP:4000030 (Anti-reticulin antibody positivity)\n", + " \n", + " \n", + " Paroxysmal choreoathetosis\n", + " definition of HP:0007098 (Paroxysmal choreoathetosis)\n", + " \n", + " \n", + " Episodes of choreoathetosis that can occur following triggers such as quick voluntary movements.\n", + " definition of HP:0007098 (Paroxysmal choreoathetosis)\n", + " \n", + " \n", + " #Choreoathetosis, episodic #Choreoathetosis, intermittent\n", + " definition of HP:0007098 (Paroxysmal choreoathetosis)\n", + " \n", + " \n", + " Abnormal proximal phalanx morphology of the hand\n", + " definition of HP:0009834 (Abnormal proximal phalanx morphology of the hand)\n", + " \n", + " \n", + " #Abnormality of the innermost finger bones of the hand #Abnormality of the proximal phalanges of the hand\n", + " definition of HP:0009834 (Abnormal proximal phalanx morphology of the hand)\n", + " \n", + " \n", + " Unilateral facial palsy\n", + " definition of HP:0012799 (Unilateral facial palsy)\n", + " \n", + " \n", + " One-sided weakness of the muscles of facial expression and eye closure.\n", + " definition of HP:0012799 (Unilateral facial palsy)\n", + " \n", + " \n", + " #Facial droop #Paralysis of one side of the face #Unilateral facial muscle paralysis #Unilateral facial muscle weakness #Unilateral facial paralysis #Unilateral facial weakness #Weakness of one side of the face\n", + " definition of HP:0012799 (Unilateral facial palsy)\n", + " \n", + " \n", + " Redundant umbilical skin\n", + " definition of HP:0034361 (Redundant umbilical skin)\n", + " \n", + " \n", + " Greater than normal amount of skin surrounding the umbilicus (belly button) with protrusion of the umbilicus above the plane of the abdomen.\n", + " definition of HP:0034361 (Redundant umbilical skin)\n", + " \n", + " \n", + " Progressive congenital scoliosis\n", + " definition of HP:0008458 (Progressive congenital scoliosis)\n", + " \n", + " \n", + " A progressive form of scoliosis with congenital onset.\n", + " definition of HP:0008458 (Progressive congenital scoliosis)\n", + " \n", + " \n", + " Proximal muscle weakness\n", + " definition of HP:0003701 (Proximal muscle weakness)\n", + " \n", + " \n", + " A lack of strength of the proximal muscles.\n", + " definition of HP:0003701 (Proximal muscle weakness)\n", + " \n", + " \n", + " #Muscle weakness, proximal #Proximal limb muscle weakness #Proximal limb weakness #Weakness in muscles of upper arms and upper legs\n", + " definition of HP:0003701 (Proximal muscle weakness)\n", + " \n", + " \n", + " Stippling of the epiphysis of the middle phalanx of the 2nd finger\n", + " definition of HP:0009522 (Stippling of the epiphysis of the middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Speckled calcifications in end part of the middle bone of the index finger\n", + " definition of HP:0009522 (Stippling of the epiphysis of the middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " Childhood onset\n", + " definition of HP:0011463 (Childhood onset)\n", + " \n", + " \n", + " Onset of disease at the age of between 1 and 5 years.\n", + " definition of HP:0011463 (Childhood onset)\n", + " \n", + " \n", + " #Symptoms begin in childhood\n", + " definition of HP:0011463 (Childhood onset)\n", + " \n", + " \n", + " Echogenic intracardiac focus\n", + " definition of HP:0010942 (Echogenic intracardiac focus)\n", + " \n", + " \n", + " A finding of a focus of increased echogenicity upon prenatal ultrasound examination of the fetus. The foci may be present in one or both ventricles. Echogenic intracardiac focus (EICF) is defined as a focus of echogenicity comparable to bone, in the region of the papillary muscle in either or both ventricles of the fetal heart.\n", + " definition of HP:0010942 (Echogenic intracardiac focus)\n", + " \n", + " \n", + " Abnormal tricuspid valve annulus morphology\n", + " definition of HP:0031441 (Abnormal tricuspid valve annulus morphology)\n", + " \n", + " \n", + " Any structural anomaly of the annulus of the tricuspid valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach.\n", + " definition of HP:0031441 (Abnormal tricuspid valve annulus morphology)\n", + " \n", + " \n", + " Shortened PR interval\n", + " definition of HP:0005165 (Shortened PR interval)\n", + " \n", + " \n", + " Reduced time for the PR interval (beginning of the P wave to the beginning of the QRS complex). In adults, normal values are 120 to 200 ms long.\n", + " definition of HP:0005165 (Shortened PR interval)\n", + " \n", + " \n", + " #Electrocardiographic short PR interval #Short P-R interval #Shortened PR interval on EKG\n", + " definition of HP:0005165 (Shortened PR interval)\n", + " \n", + " \n", + " Fetal ultrasound soft marker\n", + " definition of HP:0011425 (Fetal ultrasound soft marker)\n", + " \n", + " \n", + " An finding upon obstetric ultrasound examination performed at around 16 to 20 weeks of gestation that is abnormal but not clearly identifiable as a fetal anatomic malformation or growth restriction. Such findings are known as soft markers since they are associated with increased risk for fetal aneuploidy or other disorders.\n", + " definition of HP:0011425 (Fetal ultrasound soft marker)\n", + " \n", + " \n", + " #Foetal ultrasound soft marker\n", + " definition of HP:0011425 (Fetal ultrasound soft marker)\n", + " \n", + " \n", + " Constricted radial neck\n", + " definition of HP:0003998 (Constricted radial neck)\n", + " \n", + " \n", + " Conjunctival icterus\n", + " definition of HP:0032106 (Conjunctival icterus)\n", + " \n", + " \n", + " Conjunctival icterus is a condition where there is yellowing of the whites of the eyes. This is most commonly seen in patients who have liver disease.\n", + " definition of HP:0032106 (Conjunctival icterus)\n", + " \n", + " \n", + " #Scleral icterus #Yellow conjunctiva #Yellow sclera #Yellowing of the whites of the eyes\n", + " definition of HP:0032106 (Conjunctival icterus)\n", + " \n", + " \n", + " Hypopigmented genitalia\n", + " definition of HP:0030259 (Hypopigmented genitalia)\n", + " \n", + " \n", + " Localized or generalized decreased genital pigmentation.\n", + " definition of HP:0030259 (Hypopigmented genitalia)\n", + " \n", + " \n", + " #Decreased genital pigmentation\n", + " definition of HP:0030259 (Hypopigmented genitalia)\n", + " \n", + " \n", + " Intracranial internal carotid artery dissection\n", + " definition of HP:0012160 (Intracranial internal carotid artery dissection)\n", + " \n", + " \n", + " A separation (dissection) of the layers of the intracranial portion of the internal carotid artery wall.\n", + " definition of HP:0012160 (Intracranial internal carotid artery dissection)\n", + " \n", + " \n", + " White lesion of the oral mucosa\n", + " definition of HP:0025125 (White lesion of the oral mucosa)\n", + " \n", + " \n", + " White lesions of the oral mucosa are generally caused by a condition that increases the thickness of the epithelium. This increases the distance to the vascular bed and thereby tends to change the usual reddish color of the oral mucosa to white. Common causes include hyperkeratosis (thickening of the keratin layer), acanthosis (thickening of the spinous cell layer), increased edema in the epithelium (leukoedema), and reduced vascularity of the underlying lamina propria. Additionally, fibrin caps or surface ulcerations and collapsed bullae can appear white.\n", + " definition of HP:0025125 (White lesion of the oral mucosa)\n", + " \n", + " \n", + " Primary testicular failure\n", + " definition of HP:0008720 (Primary testicular failure)\n", + " \n", + " \n", + " Actinic keratosis\n", + " definition of HP:0025127 (Actinic keratosis)\n", + " \n", + " \n", + " A scaly, crusty lesion caused by damage from the ultraviolet radiation of the sun, with typical location on sun-exposed areas of the skin. Actinic keratosis lesions are often elevated, rough, and wartlike, and may be red, or occasionally tan, pink, or flesh-toned in color.\n", + " definition of HP:0025127 (Actinic keratosis)\n", + " \n", + " \n", + " #Solar keratosis\n", + " definition of HP:0025127 (Actinic keratosis)\n", + " \n", + " \n", + " Symphalangism of middle phalanx of 3rd finger\n", + " definition of HP:0009435 (Symphalangism of middle phalanx of 3rd finger)\n", + " \n", + " \n", + " Fusion of the middle phalanx of the 3rd finger with another bone.\n", + " definition of HP:0009435 (Symphalangism of middle phalanx of 3rd finger)\n", + " \n", + " \n", + " #Fused middle bone of middle finger\n", + " definition of HP:0009435 (Symphalangism of middle phalanx of 3rd finger)\n", + " \n", + " \n", + " Abnormal residual volume\n", + " definition of HP:0033752 (Abnormal residual volume)\n", + " \n", + " \n", + " Any deviation from normal values of the residual volume, which is defined as the volume of air left in the lungs at the end of maximal expiration (ie. the volume of air which you cannot voluntarily exhale from your lungs).\n", + " definition of HP:0033752 (Abnormal residual volume)\n", + " \n", + " \n", + " Hypermelanotic macule\n", + " definition of HP:0001034 (Hypermelanotic macule)\n", + " \n", + " \n", + " A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size.\n", + " definition of HP:0001034 (Hypermelanotic macule)\n", + " \n", + " \n", + " #Hyperpigmented macules #Hyperpigmented spots\n", + " definition of HP:0001034 (Hypermelanotic macule)\n", + " \n", + " \n", + " Migraine with aura\n", + " definition of HP:0002077 (Migraine with aura)\n", + " \n", + " \n", + " A type of migraine in which there is an aura characterized by focal neurological phenomena that usually proceed, but may accompany or occur in the absence of, the headache. The symptoms of an aura may include fully reversible visual, sensory, and speech symptoms but not motor weakness. Visual symptoms may include flickering lights, spots and lines and/or loss of vision and/or unilateral sensory symptoms such as paresthesias or numbness. At least one of the symptoms of an aura develops gradually over 5 or more minutes and/or different symptoms occur in succession.\n", + " definition of HP:0002077 (Migraine with aura)\n", + " \n", + " \n", + " Absent toe phalanx flexion crease\n", + " definition of HP:6000891 (Absent toe phalanx flexion crease)\n", + " \n", + " \n", + " Absence of one or more interphalangeal creases of a toe (i.e., of the transverse lines in the skin between the phalanges of the toes).\n", + " definition of HP:6000891 (Absent toe phalanx flexion crease)\n", + " \n", + " \n", + " Saccadic smooth pursuit\n", + " definition of HP:0001152 (Saccadic smooth pursuit)\n", + " \n", + " \n", + " An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements.\n", + " definition of HP:0001152 (Saccadic smooth pursuit)\n", + " \n", + " \n", + " #Saccadic pursuit movements #Saccadic slow pursuit\n", + " definition of HP:0001152 (Saccadic smooth pursuit)\n", + " \n", + " \n", + " Univentricular heart with absent left sided atrioventricular connection\n", + " definition of HP:0011549 (Univentricular heart with absent left sided atrioventricular connection)\n", + " \n", + " \n", + " #Univentricular heart with absent left sided atrioventricular connexion\n", + " definition of HP:0011549 (Univentricular heart with absent left sided atrioventricular connection)\n", + " \n", + " \n", + " Hyperplasia of the maxilla\n", + " definition of HP:0430028 (Hyperplasia of the maxilla)\n", + " \n", + " \n", + " Abnormally increased dimension of the maxilla, especially relative to the mandible, resulting in a malocclusion or malalignment between the upper and lower teeth or in anterior positioning of the nasal base, increased convexity of the face, increased nasolabial angle, or increased width (transverse dimension of the maxilla.\n", + " definition of HP:0430028 (Hyperplasia of the maxilla)\n", + " \n", + " \n", + " #Big maxilla #Big upper jaw #Hyperplasia of upper jaw #Increased size of maxilla #Increased size of upper jaw #Large maxilla #Large upper jaw #Maxillary excess #Maxillary hyperplasia #Maxillary macrognathia #Maxillary prominence #Prominent maxilla #Prominent upper jaw #Upper jaw bone excess #Upper jaw excess\n", + " definition of HP:0430028 (Hyperplasia of the maxilla)\n", + " \n", + " \n", + " Bifid xiphoid process\n", + " definition of HP:0100891 (Bifid xiphoid process)\n", + " \n", + " \n", + " A cleft of the xiphoid process of the sternum.\n", + " definition of HP:0100891 (Bifid xiphoid process)\n", + " \n", + " \n", + " #Bifid xiphisternum\n", + " definition of HP:0100891 (Bifid xiphoid process)\n", + " \n", + " \n", + " Gallbladder enlargement\n", + " definition of HP:0034506 (Gallbladder enlargement)\n", + " \n", + " \n", + " Abnormal increased in the thickness of the size of the gallbladder.\n", + " definition of HP:0034506 (Gallbladder enlargement)\n", + " \n", + " \n", + " #Gallbladder enlarged\n", + " definition of HP:0034506 (Gallbladder enlargement)\n", + " \n", + " \n", + " Thyroid follicular adenoma\n", + " definition of HP:0011774 (Thyroid follicular adenoma)\n", + " \n", + " \n", + " Abnormal subclavian artery morphology\n", + " definition of HP:0031251 (Abnormal subclavian artery morphology)\n", + " \n", + " \n", + " Any anomaly of a subclavian artery.\n", + " definition of HP:0031251 (Abnormal subclavian artery morphology)\n", + " \n", + " \n", + " Partial albinism\n", + " definition of HP:0007443 (Partial albinism)\n", + " \n", + " \n", + " Absence of melanin pigment in various areas, which is found at birth and is permanent. The lesions are known as leucoderma and are often found on the face, trunk, or limbs.\n", + " definition of HP:0007443 (Partial albinism)\n", + " \n", + " \n", + " #Congenital partial albinism on face, trunk, or limbs #Congenital partial leucoderma #Partial absent skin pigmentation\n", + " definition of HP:0007443 (Partial albinism)\n", + " \n", + " \n", + " Absence of the third cerebral ventricle\n", + " definition of HP:0010661 (Absence of the third cerebral ventricle)\n", + " \n", + " \n", + " A developmental defect characterized by the absence of the third ventricle.\n", + " definition of HP:0010661 (Absence of the third cerebral ventricle)\n", + " \n", + " \n", + " Abnormal arcuate vein lumen morphology\n", + " definition of HP:0033875 (Abnormal arcuate vein lumen morphology)\n", + " \n", + " \n", + " Abnormal structural characteristics of the interior space (lumen) of the arcuate vein of the kidney.\n", + " definition of HP:0033875 (Abnormal arcuate vein lumen morphology)\n", + " \n", + " \n", + " Adrenocortical hypoplasia\n", + " definition of HP:0008182 (Adrenocortical hypoplasia)\n", + " \n", + " \n", + " #Small adrenal cortex\n", + " definition of HP:0008182 (Adrenocortical hypoplasia)\n", + " \n", + " \n", + " Focal impaired awareness tonic seizure\n", + " definition of HP:0032724 (Focal impaired awareness tonic seizure)\n", + " \n", + " \n", + " A focal tonic seizure in which awareness is partially or fully impaired at some point during the seizure.\n", + " definition of HP:0032724 (Focal impaired awareness tonic seizure)\n", + " \n", + " \n", + " Protuberances at ends of long bones\n", + " definition of HP:0003105 (Protuberances at ends of long bones)\n", + " \n", + " \n", + " The presence of multiple protuberances (bulges, or knobs) at the ends of the long bones.\n", + " definition of HP:0003105 (Protuberances at ends of long bones)\n", + " \n", + " \n", + " #Protuberances at ends of long bones\n", + " definition of HP:0003105 (Protuberances at ends of long bones)\n", + " \n", + " \n", + " Lingual thyroid\n", + " definition of HP:0100029 (Lingual thyroid)\n", + " \n", + " \n", + " An aberrant thyroid gland or Ectopic thyroid located at the base of the tongue, just posterior to the foramen cecum as a result of a failure of the thyroid to descend.\n", + " definition of HP:0100029 (Lingual thyroid)\n", + " \n", + " \n", + " Cervical ectopia cordis\n", + " definition of HP:0011583 (Cervical ectopia cordis)\n", + " \n", + " \n", + " A type of ectopia cordis with the heart partially in the cervical region and without a defect of the sternum.\n", + " definition of HP:0011583 (Cervical ectopia cordis)\n", + " \n", + " \n", + " Tongue tremor\n", + " definition of HP:0031947 (Tongue tremor)\n", + " \n", + " \n", + " An unintentional, oscillating to-and-fro muscle movement affecting the tongue.\n", + " definition of HP:0031947 (Tongue tremor)\n", + " \n", + " \n", + " Maternal seizure\n", + " definition of HP:0100622 (Maternal seizure)\n", + " \n", + " \n", + " A seizure during pregnancy.\n", + " definition of HP:0100622 (Maternal seizure)\n", + " \n", + " \n", + " #Maternal seizures\n", + " definition of HP:0100622 (Maternal seizure)\n", + " \n", + " \n", + " Elevated cholesterol ester level\n", + " definition of HP:0031211 (Elevated cholesterol ester level)\n", + " \n", + " \n", + " An elevated concentration of circulating cholesterol esters, which are fatty acid esters of cholesterol and make up about two-thirds of total plasma cholesterol.\n", + " definition of HP:0031211 (Elevated cholesterol ester level)\n", + " \n", + " \n", + " #Elevated cholesteryl ester level #Increased cholesterol esters #Increased cholesteryl esters\n", + " definition of HP:0031211 (Elevated cholesterol ester level)\n", + " \n", + " \n", + " Membranous nephropathy\n", + " definition of HP:0012578 (Membranous nephropathy)\n", + " \n", + " \n", + " A type of glomerulonephropathy characterized by thickening of the basement membrane and deposition of immune complexes in the subepithelial space.\n", + " definition of HP:0012578 (Membranous nephropathy)\n", + " \n", + " \n", + " #Membranous glomerulonephritis\n", + " definition of HP:0012578 (Membranous nephropathy)\n", + " \n", + " \n", + " Paroxysmal lethargy\n", + " definition of HP:0011973 (Paroxysmal lethargy)\n", + " \n", + " \n", + " Repeated episodes of sudden-onset and transient lethargy.\n", + " definition of HP:0011973 (Paroxysmal lethargy)\n", + " \n", + " \n", + " #Intermittent lack of energy\n", + " definition of HP:0011973 (Paroxysmal lethargy)\n", + " \n", + " \n", + " Protuberant abdomen\n", + " definition of HP:0001538 (Protuberant abdomen)\n", + " \n", + " \n", + " A thrusting or bulging out of the abdomen.\n", + " definition of HP:0001538 (Protuberant abdomen)\n", + " \n", + " \n", + " #Abdominal protuberance #Belly sticks out #Extended belly\n", + " definition of HP:0001538 (Protuberant abdomen)\n", + " \n", + " \n", + " Tessier number 7 facial cleft\n", + " definition of HP:0031579 (Tessier number 7 facial cleft)\n", + " \n", + " \n", + " The temporozygomatic Number 7 cleft is found in both Treacher Collins syndrome and hemifacial microsomia. Soft tissue manifestations include macrostomia, malformations of the external and middle ear, temporalis muscle, variable involvement of the seventh cranial nerve (in hemifacial microsomia), and abnormalities of the preauricular hair in Treacher Collins syndrome. The skeletal cleft is through the pterygomaxillary junction, and vertical maxillary hypoplasia is present. In addition, abnormality of the mandibular ramus, coronoid, and condyle and absence of the zygomatic arch are typically present. A soft tissue furrow extends from the macrostomia laterally and superiorly across the cheek toward the preauricular hairline. The lower eyelids are intact. The anatomy of the external ear is normal, and there are no preauricular tags. Bony clefting is through the pterygomaxillary junction with hypoplasia of the alveolar process in the molar region, thereby producing a posterior open bite. The maxilla is hypoplastic, although the maxillary sinuses are symmetrically pneumatized. The hypoplastic zygomatic body arches upward, but then it takes a downward course and is severely malformed and displaced. The zygoma is continuous posteriorly with an apparently normal zygomatic process of the temporal bone. The mandibular condyle and coronoid process are hypoplastic and asymmetric. There is no antegonial notching of the mandible. Marked cranial base asymmetry, with tilting and asymmetric positioning of the temporomandibular articulations, is present. The anatomy of the sphenoid is abnormal, especially on the right where there is no recognizable medial or lateral pterygoid plate.\n", + " definition of HP:0031579 (Tessier number 7 facial cleft)\n", + " \n", + " \n", + " #Tessier cleft number 7 #Tessier facial cleft number 7\n", + " definition of HP:0031579 (Tessier number 7 facial cleft)\n", + " \n", + " \n", + " Reduced sepiapterin reductase activity in cultured fibroblasts\n", + " definition of HP:6000563 (Reduced sepiapterin reductase activity in cultured fibroblasts)\n", + " \n", + " \n", + " Activity of sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase; EC 1.1.1.153) below the lower limit of normal in cultured fibroblasts.\n", + " definition of HP:6000563 (Reduced sepiapterin reductase activity in cultured fibroblasts)\n", + " \n", + " \n", + " Arthrogryposis-like hand anomaly\n", + " definition of HP:0005612 (Arthrogryposis-like hand anomaly)\n", + " \n", + " \n", + " Antinuclear antibody positivity\n", + " definition of HP:0003493 (Antinuclear antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies in the serum that react against nuclei or nuclear components.\n", + " definition of HP:0003493 (Antinuclear antibody positivity)\n", + " \n", + " \n", + " #Antinuclear antibodies #Antinuclear antibody positive #Elevated antinuclear antibody #Serum antinuclear antibody\n", + " definition of HP:0003493 (Antinuclear antibody positivity)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the maxilla\n", + " definition of HP:0009117 (Aplasia/Hypoplasia of the maxilla)\n", + " \n", + " \n", + " Absence or underdevelopment of the maxilla.\n", + " definition of HP:0009117 (Aplasia/Hypoplasia of the maxilla)\n", + " \n", + " \n", + " #Underdevelopment of maxilla #Underdevelopment of upper jaw bones\n", + " definition of HP:0009117 (Aplasia/Hypoplasia of the maxilla)\n", + " \n", + " \n", + " Reduced tissue acetyl-CoA carboxylase activity\n", + " definition of HP:6000430 (Reduced tissue acetyl-CoA carboxylase activity)\n", + " \n", + " \n", + " Activity of acetyl-CoA carboxylase in the tissues below the lower limit of normal. The activity can be measured in multiple tissues including liver.\n", + " definition of HP:6000430 (Reduced tissue acetyl-CoA carboxylase activity)\n", + " \n", + " \n", + " #Reduced hepatic acetyl-CoA carboxylase activity\n", + " definition of HP:6000430 (Reduced tissue acetyl-CoA carboxylase activity)\n", + " \n", + " \n", + " Reduced circulating 6-pyruvoyltetrahydropterin synthase activity\n", + " definition of HP:6000575 (Reduced circulating 6-pyruvoyltetrahydropterin synthase activity)\n", + " \n", + " \n", + " The activity of 6-pyruvoyltetrahydropterin synthase in the blood circulation is below the lower limit of normal.\n", + " definition of HP:6000575 (Reduced circulating 6-pyruvoyltetrahydropterin synthase activity)\n", + " \n", + " \n", + " Focal aware cognitive seizure with dissociation\n", + " definition of HP:0032688 (Focal aware cognitive seizure with dissociation)\n", + " \n", + " \n", + " A focal cognitive seizure with dissociation characterized by retained awareness throughout the seizure.\n", + " definition of HP:0032688 (Focal aware cognitive seizure with dissociation)\n", + " \n", + " \n", + " Aplasia of the proximal phalanx of the 5th finger\n", + " definition of HP:0009225 (Aplasia of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " Absence of the proximal phalanx of the little (5th) finger.\n", + " definition of HP:0009225 (Aplasia of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " #Absent innermost bone of little finger #Absent innermost bone of pinkie finger #Absent innermost bone of pinky finger\n", + " definition of HP:0009225 (Aplasia of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " Abnormal level of lymph-node cellular CD20 expression\n", + " definition of HP:0020289 (Abnormal level of lymph-node cellular CD20 expression)\n", + " \n", + " \n", + " Detection of abnormal levels of CD20 on the cell(s) of interest with the use of anti-CD20 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry).\n", + " definition of HP:0020289 (Abnormal level of lymph-node cellular CD20 expression)\n", + " \n", + " \n", + " Urinary bladder inflammation\n", + " definition of HP:0100577 (Urinary bladder inflammation)\n", + " \n", + " \n", + " Inflammation of the urinary bladder.\n", + " definition of HP:0100577 (Urinary bladder inflammation)\n", + " \n", + " \n", + " #Cystitis of the urinary bladder #Urinary bladder inflammation\n", + " definition of HP:0100577 (Urinary bladder inflammation)\n", + " \n", + " \n", + " Hypercitraturia\n", + " definition of HP:0012406 (Hypercitraturia)\n", + " \n", + " \n", + " A greater than normal concentration of citrate(3-) in the urine.\n", + " definition of HP:0012406 (Hypercitraturia)\n", + " \n", + " \n", + " #Increased urine citrate concentration\n", + " definition of HP:0012406 (Hypercitraturia)\n", + " \n", + " \n", + " Incisor macrodontia\n", + " definition of HP:0011081 (Incisor macrodontia)\n", + " \n", + " \n", + " Increased size of the incisor tooth.\n", + " definition of HP:0011081 (Incisor macrodontia)\n", + " \n", + " \n", + " #Increased width of incisor\n", + " definition of HP:0011081 (Incisor macrodontia)\n", + " \n", + " \n", + " Sonographic non-visualized fetal bladder\n", + " definition of HP:0034217 (Sonographic non-visualized fetal bladder)\n", + " \n", + " \n", + " Inability to visualize the fetal bladder on targeted prenatal sonography examination. The fetal bladder can be visualized with sonography as a midline, fluid-filled structure in the pelvis as early as 10-12 weeks of gestation. The normal fetus voids at least once an hour but never completely empties the urinary bladder. The fetal bladdder should be consistently imaged after 13 weeks of gestation.\n", + " definition of HP:0034217 (Sonographic non-visualized fetal bladder)\n", + " \n", + " \n", + " Widely patent sagittal suture\n", + " definition of HP:0005476 (Widely patent sagittal suture)\n", + " \n", + " \n", + " The presence of a sagittal suture (the cranial suture that separates the left and right parietal bones) that is not ossified but rather wide open at an age when it is normally closed.\n", + " definition of HP:0005476 (Widely patent sagittal suture)\n", + " \n", + " \n", + " Infection due to encapsulated bacteria\n", + " definition of HP:0020097 (Infection due to encapsulated bacteria)\n", + " \n", + " \n", + " An infection by an encapsulated bacterial agent. Isolates which cause invasive disease are usually surrounded by a polysaccharide capsule, which is a major virulence factor and the key antigen in protective protein-polysaccharide conjugate vaccines.\n", + " definition of HP:0020097 (Infection due to encapsulated bacteria)\n", + " \n", + " \n", + " Vascular remnant arising from the disk\n", + " definition of HP:0009922 (Vascular remnant arising from the disk)\n", + " \n", + " \n", + " Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disc to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth.\n", + " definition of HP:0009922 (Vascular remnant arising from the disk)\n", + " \n", + " \n", + " #Persistence of the hyaloid artery #Persistent hyaloid artery\n", + " definition of HP:0009922 (Vascular remnant arising from the disk)\n", + " \n", + " \n", + " Visceral epithelial cell detachment\n", + " definition of HP:0033237 (Visceral epithelial cell detachment)\n", + " \n", + " \n", + " Detachment of visceral epithelial cells (podocytes) from underlying glomerular basement membrane with intervening new loose basement membrane material (pale on Hematoxylin and eosin, periodic acid-Shiff, trichrome, or silver stain) forming a so-called 'halo'.\n", + " definition of HP:0033237 (Visceral epithelial cell detachment)\n", + " \n", + " \n", + " #Detachment of visceral epithelial cells #Podocyte detachment\n", + " definition of HP:0033237 (Visceral epithelial cell detachment)\n", + " \n", + " \n", + " Abnormal prostate morphology\n", + " definition of HP:0008775 (Abnormal prostate morphology)\n", + " \n", + " \n", + " An abnormality of the prostate.\n", + " definition of HP:0008775 (Abnormal prostate morphology)\n", + " \n", + " \n", + " #Abnormality of the prostate\n", + " definition of HP:0008775 (Abnormal prostate morphology)\n", + " \n", + " \n", + " Thin zona pellucida\n", + " definition of HP:0020157 (Thin zona pellucida)\n", + " \n", + " \n", + " Reduced thickness of the zona pellucida.\n", + " definition of HP:0020157 (Thin zona pellucida)\n", + " \n", + " \n", + " Circumscribed\n", + " definition of HP:6001047 (Circumscribed)\n", + " \n", + " \n", + " Applies to an abnormality whose distribution and appearance are well-defined and localized to a specific area.\n", + " definition of HP:6001047 (Circumscribed)\n", + " \n", + " \n", + " Mitochondrial inheritance\n", + " definition of HP:0001427 (Mitochondrial inheritance)\n", + " \n", + " \n", + " A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy).\n", + " definition of HP:0001427 (Mitochondrial inheritance)\n", + " \n", + " \n", + " #Mitochondrial #mitochondrial\n", + " definition of HP:0001427 (Mitochondrial inheritance)\n", + " \n", + " \n", + " Displaced anterior fontanelle\n", + " definition of HP:6001069 (Displaced anterior fontanelle)\n", + " \n", + " \n", + " Abnormal shifting of the anterior fontanelle fropm its normal central position.\n", + " definition of HP:6001069 (Displaced anterior fontanelle)\n", + " \n", + " \n", + " #Displacement of the anterior fontanelle\n", + " definition of HP:6001069 (Displaced anterior fontanelle)\n", + " \n", + " \n", + " Abnormal indocyanine green angiography\n", + " definition of HP:0030605 (Abnormal indocyanine green angiography)\n", + " \n", + " \n", + " Deviation of the 3rd finger\n", + " definition of HP:0009317 (Deviation of the 3rd finger)\n", + " \n", + " \n", + " Displacement of the 3rd finger from its normal position.\n", + " definition of HP:0009317 (Deviation of the 3rd finger)\n", + " \n", + " \n", + " #Deviated middle finger\n", + " definition of HP:0009317 (Deviation of the 3rd finger)\n", + " \n", + " \n", + " Abnormality of mylohyoid muscle\n", + " definition of HP:3000008 (Abnormality of mylohyoid muscle)\n", + " \n", + " \n", + " An abnormality of a mylohyoid muscle.\n", + " definition of HP:3000008 (Abnormality of mylohyoid muscle)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the tragus\n", + " definition of HP:0009913 (Aplasia/Hypoplasia of the tragus)\n", + " \n", + " \n", + " Aplasia or developmental hypoplasia of the tragus.\n", + " definition of HP:0009913 (Aplasia/Hypoplasia of the tragus)\n", + " \n", + " \n", + " #Absent/small tragus #Absent/underdeveloped tragus\n", + " definition of HP:0009913 (Aplasia/Hypoplasia of the tragus)\n", + " \n", + " \n", + " Focal aware autonomic seizure with lacrimation\n", + " definition of HP:0032776 (Focal aware autonomic seizure with lacrimation)\n", + " \n", + " \n", + " Anterior clefting of vertebral bodies\n", + " definition of HP:0009761 (Anterior clefting of vertebral bodies)\n", + " \n", + " \n", + " Anterior schisis (cleft or cleavage) of vertebral bodies.\n", + " definition of HP:0009761 (Anterior clefting of vertebral bodies)\n", + " \n", + " \n", + " Upper limb pain\n", + " definition of HP:0012513 (Upper limb pain)\n", + " \n", + " \n", + " An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the arm.\n", + " definition of HP:0012513 (Upper limb pain)\n", + " \n", + " \n", + " #Upper limb pain\n", + " definition of HP:0012513 (Upper limb pain)\n", + " \n", + " \n", + " Enterocutaneous fistula\n", + " definition of HP:0033279 (Enterocutaneous fistula)\n", + " \n", + " \n", + " An abnormal connection (fistula) between the intra-abdominal intestinal tract and the skin.\n", + " definition of HP:0033279 (Enterocutaneous fistula)\n", + " \n", + " \n", + " Hypoplastic anterior limbs of the internal capsule\n", + " definition of HP:0034051 (Hypoplastic anterior limbs of the internal capsule)\n", + " \n", + " \n", + " Underdevelopment of the frontal part (anterior crus or anterior limb) of the internal capsule.\n", + " definition of HP:0034051 (Hypoplastic anterior limbs of the internal capsule)\n", + " \n", + " \n", + " Choroideremia\n", + " definition of HP:0001139 (Choroideremia)\n", + " \n", + " \n", + " Decreased heart rate variability\n", + " definition of HP:0031861 (Decreased heart rate variability)\n", + " \n", + " \n", + " Reduced variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle.\n", + " definition of HP:0031861 (Decreased heart rate variability)\n", + " \n", + " \n", + " #Reduced heart rate variability\n", + " definition of HP:0031861 (Decreased heart rate variability)\n", + " \n", + " \n", + " Hyperplasia of midface\n", + " definition of HP:0012371 (Hyperplasia of midface)\n", + " \n", + " \n", + " Abnormally anterior positioning of the infraorbital and perialar regions, or increased convexity of the face, or increased nasolabial angle. The midface includes the maxilla, the cheeks, the zygomas, and the infraorbital and perialar regions of the face\n", + " definition of HP:0012371 (Hyperplasia of midface)\n", + " \n", + " \n", + " #Midface hyperplasia #Midfacial excess #Midfacial prominence\n", + " definition of HP:0012371 (Hyperplasia of midface)\n", + " \n", + " \n", + " Low plasma citrulline\n", + " definition of HP:0003572 (Low plasma citrulline)\n", + " \n", + " \n", + " A decreased concentration of citrulline in the blood.\n", + " definition of HP:0003572 (Low plasma citrulline)\n", + " \n", + " \n", + " Hypoplastic female external genitalia\n", + " definition of HP:0012815 (Hypoplastic female external genitalia)\n", + " \n", + " \n", + " Underdevelopment of part or all of the female external reproductive organs (which include the mons pubis, labia majora, labia minora, Bartholin glands, and clitoris).\n", + " definition of HP:0012815 (Hypoplastic female external genitalia)\n", + " \n", + " \n", + " #Underdeveloped female external genitalia\n", + " definition of HP:0012815 (Hypoplastic female external genitalia)\n", + " \n", + " \n", + " Polycystic ovaries\n", + " definition of HP:0000147 (Polycystic ovaries)\n", + " \n", + " \n", + " #Polycystic ovary #Sclerocystic ovaries\n", + " definition of HP:0000147 (Polycystic ovaries)\n", + " \n", + " \n", + " Fifth finger distal phalanx clinodactyly\n", + " definition of HP:0005769 (Fifth finger distal phalanx clinodactyly)\n", + " \n", + " \n", + " Bending or curvature of the distal phalanx of little finger in the radial direction (i.e., towards the 4th finger).\n", + " definition of HP:0005769 (Fifth finger distal phalanx clinodactyly)\n", + " \n", + " \n", + " Distal/middle symphalangism of 3rd finger\n", + " definition of HP:0009426 (Distal/middle symphalangism of 3rd finger)\n", + " \n", + " \n", + " Fusion of the terminal/distal and middle phalanges of the 3rd finger.\n", + " definition of HP:0009426 (Distal/middle symphalangism of 3rd finger)\n", + " \n", + " \n", + " #Fused outermost and middle bones of middle finger #Symphalangism of the distal and middle phalanges of the 3rd finger\n", + " definition of HP:0009426 (Distal/middle symphalangism of 3rd finger)\n", + " \n", + " \n", + " Abnormal interlobular vein lumen morphology\n", + " definition of HP:0033855 (Abnormal interlobular vein lumen morphology)\n", + " \n", + " \n", + " Any structural anomaly located in the the inside space of the interlobular veins of the kidney.\n", + " definition of HP:0033855 (Abnormal interlobular vein lumen morphology)\n", + " \n", + " \n", + " #Abnormal morphology of the interlobular vein lumen\n", + " definition of HP:0033855 (Abnormal interlobular vein lumen morphology)\n", + " \n", + " \n", + " Elevated urine glutaconic acid level\n", + " definition of HP:0034655 (Elevated urine glutaconic acid level)\n", + " \n", + " \n", + " The concentration of glutaconic acid in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:0034655 (Elevated urine glutaconic acid level)\n", + " \n", + " \n", + " Fractured proximal phalanx of pedal digit 1\n", + " definition of HP:0041187 (Fractured proximal phalanx of pedal digit 1)\n", + " \n", + " \n", + " A partial or complete breakage of the proximal phalanx of pedal digit 1.\n", + " definition of HP:0041187 (Fractured proximal phalanx of pedal digit 1)\n", + " \n", + " \n", + " #bone proximal phalanx of pedal digit 1\n", + " definition of HP:0041187 (Fractured proximal phalanx of pedal digit 1)\n", + " \n", + " \n", + " Sense of impending doom\n", + " definition of HP:0033845 (Sense of impending doom)\n", + " \n", + " \n", + " A feeling that something life-threatening or tragic is about to occur.\n", + " definition of HP:0033845 (Sense of impending doom)\n", + " \n", + " \n", + " #Sense of doom\n", + " definition of HP:0033845 (Sense of impending doom)\n", + " \n", + " \n", + " Blepharochalasis\n", + " definition of HP:0010749 (Blepharochalasis)\n", + " \n", + " \n", + " Blepharochalasis is characterized by recurrent, non-painful, nonerythematous episodes of eyelid edema. It has been divided into hypertrophic and atrophic forms. In the hypertrophic form recurrent edema results in orbital fat herniation through a weakened orbital septum. Most patients who have blepharochalasis present in an atrophic condition with atrophy of redundant eyelid skin and superior nasal fat pads.\n", + " definition of HP:0010749 (Blepharochalasis)\n", + " \n", + " \n", + " #Saggy upper eyelid skin\n", + " definition of HP:0010749 (Blepharochalasis)\n", + " \n", + " \n", + " Globozoospermia\n", + " definition of HP:0012205 (Globozoospermia)\n", + " \n", + " \n", + " Any structural anomaly of the acrosome resulting in a round sperm head.\n", + " definition of HP:0012205 (Globozoospermia)\n", + " \n", + " \n", + " Abnormal neutrophil morphology\n", + " definition of HP:0011992 (Abnormal neutrophil morphology)\n", + " \n", + " \n", + " An abnormal form or size of neutrophils.\n", + " definition of HP:0011992 (Abnormal neutrophil morphology)\n", + " \n", + " \n", + " #Abnormality of neutrophil morphology\n", + " definition of HP:0011992 (Abnormal neutrophil morphology)\n", + " \n", + " \n", + " Aplasia of the distal phalanx of the 3rd finger\n", + " definition of HP:0009429 (Aplasia of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Absence of the distal phalanx of the middle (3rd) finger.\n", + " definition of HP:0009429 (Aplasia of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Absent of the outermost bone of the middle finger\n", + " definition of HP:0009429 (Aplasia of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Absent tragus\n", + " definition of HP:0011268 (Absent tragus)\n", + " \n", + " \n", + " Lack of convexity or prominence of the contour of the ridge between the bottom of the incisura and the confluence of the ascending helix and crus helix.\n", + " definition of HP:0011268 (Absent tragus)\n", + " \n", + " \n", + " Reduced brain lactate level by MRS\n", + " definition of HP:0025046 (Reduced brain lactate level by MRS)\n", + " \n", + " \n", + " A decrease in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS).\n", + " definition of HP:0025046 (Reduced brain lactate level by MRS)\n", + " \n", + " \n", + " #Reduced brain lactate level by magnetic resonance spectroscopy\n", + " definition of HP:0025046 (Reduced brain lactate level by MRS)\n", + " \n", + " \n", + " Absent sternal ossification\n", + " definition of HP:0006628 (Absent sternal ossification)\n", + " \n", + " \n", + " Lack of formation of mineralized bony tissue of the sternum.\n", + " definition of HP:0006628 (Absent sternal ossification)\n", + " \n", + " \n", + " #Absent sternal mineralization #Lack of sternal ossification\n", + " definition of HP:0006628 (Absent sternal ossification)\n", + " \n", + " \n", + " Disorganization of the anterior cerebellar vermis\n", + " definition of HP:0007065 (Disorganization of the anterior cerebellar vermis)\n", + " \n", + " \n", + " #Disorganisation of the anterior cerebellar vermis\n", + " definition of HP:0007065 (Disorganization of the anterior cerebellar vermis)\n", + " \n", + " \n", + " Linear hyperpigmentation\n", + " definition of HP:0007546 (Linear hyperpigmentation)\n", + " \n", + " \n", + " Hypnopompic hallucination\n", + " definition of HP:0006896 (Hypnopompic hallucination)\n", + " \n", + " \n", + " Brief hallucinations that occur as you wake up in the morning, in a state that falls somewhere between dreaming and being fully awake.\n", + " definition of HP:0006896 (Hypnopompic hallucination)\n", + " \n", + " \n", + " #Hallucinations while awaking\n", + " definition of HP:0006896 (Hypnopompic hallucination)\n", + " \n", + " \n", + " Curved middle phalanges of the hand\n", + " definition of HP:0009846 (Curved middle phalanges of the hand)\n", + " \n", + " \n", + " #Curved middle finger bonds of the hand\n", + " definition of HP:0009846 (Curved middle phalanges of the hand)\n", + " \n", + " \n", + " Irregularity of vertebral bodies\n", + " definition of HP:0004582 (Irregularity of vertebral bodies)\n", + " \n", + " \n", + " Widely patent fontanelles and sutures\n", + " definition of HP:0004492 (Widely patent fontanelles and sutures)\n", + " \n", + " \n", + " An abnormally increased width of the cranial fontanelles and sutures.\n", + " definition of HP:0004492 (Widely patent fontanelles and sutures)\n", + " \n", + " \n", + " #Widely patent fontanels and sutures\n", + " definition of HP:0004492 (Widely patent fontanelles and sutures)\n", + " \n", + " \n", + " Triangular shaped distal phalanx of the 5th finger\n", + " definition of HP:0009245 (Triangular shaped distal phalanx of the 5th finger)\n", + " \n", + " \n", + " Triangular shaped distal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.\n", + " definition of HP:0009245 (Triangular shaped distal phalanx of the 5th finger)\n", + " \n", + " \n", + " #Triangular shaped outermost little finger bone #Triangular shaped outermost pinkie finger bone #Triangular shaped outermost pinky finger bone\n", + " definition of HP:0009245 (Triangular shaped distal phalanx of the 5th finger)\n", + " \n", + " \n", + " Paradoxical respiration\n", + " definition of HP:0030207 (Paradoxical respiration)\n", + " \n", + " \n", + " Breathing movements in which the chest wall moves in on inspiration and out on expiration, in reverse of the normal movements. It may be seen in children with respiratory distress of any cause, which leads to indrawing of the intercostal spaces during inspiration. Patients with chronic airways obstruction also show indrawing of the lower ribs during inspiration, due to the distorted action of a depressed and flattened diaphragm. Crush injuries of the chest, with fractured ribs and sternum, can lead to a severe degree of paradoxical breathing.\n", + " definition of HP:0030207 (Paradoxical respiration)\n", + " \n", + " \n", + " #Paradoxical breathing\n", + " definition of HP:0030207 (Paradoxical respiration)\n", + " \n", + " \n", + " Square pelvis bone\n", + " definition of HP:0003278 (Square pelvis bone)\n", + " \n", + " \n", + " An abnormally squared appearance of the bony pelvis, a normally rounded or basin-shaped structure.\n", + " definition of HP:0003278 (Square pelvis bone)\n", + " \n", + " \n", + " #Square pelvis bone\n", + " definition of HP:0003278 (Square pelvis bone)\n", + " \n", + " \n", + " Increased B cell count\n", + " definition of HP:0005404 (Increased B cell count)\n", + " \n", + " \n", + " An abnormal increase from the normal count of B cells.\n", + " definition of HP:0005404 (Increased B cell count)\n", + " \n", + " \n", + " #Increase in B cell count #Increase in B cell number #Increased number of B cells\n", + " definition of HP:0005404 (Increased B cell count)\n", + " \n", + " \n", + " Use of another person's body to communicate\n", + " definition of HP:4000076 (Use of another person's body to communicate)\n", + " \n", + " \n", + " Moving another person's hand, body part, or body to communicate a desire, e.g. pushing or pulling someone toward a desired object or placing someone's hand on something.\n", + " definition of HP:4000076 (Use of another person's body to communicate)\n", + " \n", + " \n", + " #Hand-leading gesture #Hand-taking gestures\n", + " definition of HP:4000076 (Use of another person's body to communicate)\n", + " \n", + " \n", + " Fibrillar glomerular subepithelial deposits\n", + " definition of HP:0033598 (Fibrillar glomerular subepithelial deposits)\n", + " \n", + " \n", + " Fibrillar deposits located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relatively uniform increase in thickness (subjective estimate).\n", + " definition of HP:0033598 (Fibrillar glomerular subepithelial deposits)\n", + " \n", + " \n", + " Pleural cyst\n", + " definition of HP:0025422 (Pleural cyst)\n", + " \n", + " \n", + " A closed sac-like structure originating from the pleura that contains a liquid, gaseous, or semisolid substance.\n", + " definition of HP:0025422 (Pleural cyst)\n", + " \n", + " \n", + " Short distal phalanx of hallux\n", + " definition of HP:0010103 (Short distal phalanx of hallux)\n", + " \n", + " \n", + " Underdevelopment (hypoplasia) of the distal phalanx of big toe.\n", + " definition of HP:0010103 (Short distal phalanx of hallux)\n", + " \n", + " \n", + " #Hypoplastic/small distal phalanx of the hallux #Small distal phalanx of big toe #Small distal phalanx of hallux #Small outermost bone of big toe\n", + " definition of HP:0010103 (Short distal phalanx of hallux)\n", + " \n", + " \n", + " Elevated CSF cystathionine concentration\n", + " definition of HP:6000280 (Elevated CSF cystathionine concentration)\n", + " \n", + " \n", + " Concentration of cystathionine in the cerebrospinal fluid (CSF) above the upper limit of normal.\n", + " definition of HP:6000280 (Elevated CSF cystathionine concentration)\n", + " \n", + " \n", + " Ciliary body melanoma\n", + " definition of HP:0012055 (Ciliary body melanoma)\n", + " \n", + " \n", + " Malignant tumor of melanocytes of the ciliary body.\n", + " definition of HP:0012055 (Ciliary body melanoma)\n", + " \n", + " \n", + " Ameliorated by biotin\n", + " definition of HP:0034540 (Ameliorated by biotin)\n", + " \n", + " \n", + " Applies to a sign or symptom that is improved or made more bearable by treatment with biotin.\n", + " definition of HP:0034540 (Ameliorated by biotin)\n", + " \n", + " \n", + " #Biotin supplementation produces improvement\n", + " definition of HP:0034540 (Ameliorated by biotin)\n", + " \n", + " \n", + " Severe infection\n", + " definition of HP:0032169 (Severe infection)\n", + " \n", + " \n", + " A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection.\n", + " definition of HP:0032169 (Severe infection)\n", + " \n", + " \n", + " #Unusual course of infection\n", + " definition of HP:0032169 (Severe infection)\n", + " \n", + " \n", + " Lipoid pneumonia\n", + " definition of HP:0033364 (Lipoid pneumonia)\n", + " \n", + " \n", + " A specific form of lung inflammation that results from accumulation of lipids in the alveoli. Lipoid pneumonia can be either exogenous or endogenous in cause based on the source of the lipid.\n", + " definition of HP:0033364 (Lipoid pneumonia)\n", + " \n", + " \n", + " Pseudo-chilblain\n", + " definition of HP:0033696 (Pseudo-chilblain)\n", + " \n", + " \n", + " Acral areas of erythema with vesicles or pustules. The lesions resemble chilblains and have purpuric areas, affecting hands and feet.\n", + " definition of HP:0033696 (Pseudo-chilblain)\n", + " \n", + " \n", + " #Chilblain-like lesion\n", + " definition of HP:0033696 (Pseudo-chilblain)\n", + " \n", + " \n", + " Self-injurious behavior\n", + " definition of HP:0100716 (Self-injurious behavior)\n", + " \n", + " \n", + " Self-aggression.\n", + " definition of HP:0100716 (Self-injurious behavior)\n", + " \n", + " \n", + " #Autoagression #Self injury #Self-harm #Self-injurious behavior #Self-injurious behaviors #Self-injurious behaviours\n", + " definition of HP:0100716 (Self-injurious behavior)\n", + " \n", + " \n", + " Abnormal Eustachian tube morphology\n", + " definition of HP:0040115 (Abnormal Eustachian tube morphology)\n", + " \n", + " \n", + " A structural anomaly of the Eustachian tube (ET). The ET is a biomechanical valve between the nasopharynx and the middle ear. Physiologically, it controls the passive adaptation of the middle ear air pressure to the ambient air pressure primarily via direct muscular actions of the soft palate. In the closed state it protects the middle ear. Inadequate function of the ET causes middle ear ventilation disorders.\n", + " definition of HP:0040115 (Abnormal Eustachian tube morphology)\n", + " \n", + " \n", + " #Abnormality of the Eustachian tube\n", + " definition of HP:0040115 (Abnormal Eustachian tube morphology)\n", + " \n", + " \n", + " Monocular horizontal nystagmus\n", + " definition of HP:0007747 (Monocular horizontal nystagmus)\n", + " \n", + " \n", + " Abnormally loud pulmonic component of the second heart sound\n", + " definition of HP:0031687 (Abnormally loud pulmonic component of the second heart sound)\n", + " \n", + " \n", + " #Accentuation of the pulmonic component of the second heart sound\n", + " definition of HP:0031687 (Abnormally loud pulmonic component of the second heart sound)\n", + " \n", + " \n", + " Abnormal fetal gastrointestinal system morphology\n", + " definition of HP:0034207 (Abnormal fetal gastrointestinal system morphology)\n", + " \n", + " \n", + " An anomalous structural finding of the fetal gastrointestinal system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.\n", + " definition of HP:0034207 (Abnormal fetal gastrointestinal system morphology)\n", + " \n", + " \n", + " Microphthalmia\n", + " definition of HP:0000568 (Microphthalmia)\n", + " \n", + " \n", + " A developmental anomaly characterized by abnormal smallness of one or both eyes.\n", + " definition of HP:0000568 (Microphthalmia)\n", + " \n", + " \n", + " #Abnormally small eyeball #Abnormally small globe of eye #Microphthalmos\n", + " definition of HP:0000568 (Microphthalmia)\n", + " \n", + " \n", + " Stippling of the epiphyses of the proximal phalanges of the hand\n", + " definition of HP:0010277 (Stippling of the epiphyses of the proximal phalanges of the hand)\n", + " \n", + " \n", + " #Speckled calcifications in the end part of the innermost hand bones\n", + " definition of HP:0010277 (Stippling of the epiphyses of the proximal phalanges of the hand)\n", + " \n", + " \n", + " Blood parasite\n", + " definition of HP:0034523 (Blood parasite)\n", + " \n", + " \n", + " Detection of a parasitic organism in the blood stream. Blood parasites include malaria plasmodia, microfilaria species, trypanosomes (the causative agents of African sleeping sickness and South American Changas disease) and the causative agents of schistosomiasis of the bladder and the intestine.\n", + " definition of HP:0034523 (Blood parasite)\n", + " \n", + " \n", + " #Parasitemia\n", + " definition of HP:0034523 (Blood parasite)\n", + " \n", + " \n", + " Gonadal neoplasm\n", + " definition of HP:0010785 (Gonadal neoplasm)\n", + " \n", + " \n", + " A tumor (abnormal growth of tissue) of a gonad.\n", + " definition of HP:0010785 (Gonadal neoplasm)\n", + " \n", + " \n", + " #Gonadal neoplasia\n", + " definition of HP:0010785 (Gonadal neoplasm)\n", + " \n", + " \n", + " Fractured radius\n", + " definition of HP:0003978 (Fractured radius)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the middle phalanx of the 2nd finger\n", + " definition of HP:0009568 (Aplasia/Hypoplasia of the middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Absent/hypoplastic middle phalanx of 2nd finger #Absent/small middle index finger bone #Absent/underdeveloped middle index finger bone #Hypoplastic/aplastic middle phalanx of index finger\n", + " definition of HP:0009568 (Aplasia/Hypoplasia of the middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " Impaired platelet aggregation\n", + " definition of HP:0003540 (Impaired platelet aggregation)\n", + " \n", + " \n", + " An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent.\n", + " definition of HP:0003540 (Impaired platelet aggregation)\n", + " \n", + " \n", + " #Defective platelet aggregation #Deficient platelet aggregation #Platelet aggregation defect\n", + " definition of HP:0003540 (Impaired platelet aggregation)\n", + " \n", + " \n", + " Abnormality of ductus venosus blood flow\n", + " definition of HP:0010947 (Abnormality of ductus venosus blood flow)\n", + " \n", + " \n", + " A first-trimester prenatal ultrasound finding of abnormal blood flow in the ductus venosus.\n", + " definition of HP:0010947 (Abnormality of ductus venosus blood flow)\n", + " \n", + " \n", + " Flat sella turcica\n", + " definition of HP:0100857 (Flat sella turcica)\n", + " \n", + " \n", + " An abnormally flat sella turcica.\n", + " definition of HP:0100857 (Flat sella turcica)\n", + " \n", + " \n", + " Increased circulating beta-carotene concentration\n", + " definition of HP:0430074 (Increased circulating beta-carotene concentration)\n", + " \n", + " \n", + " The concentration of beta-carotene in the blood circulation is above the upper limit of normal.\n", + " definition of HP:0430074 (Increased circulating beta-carotene concentration)\n", + " \n", + " \n", + " Increased adipose tissue around the neck\n", + " definition of HP:0000468 (Increased adipose tissue around the neck)\n", + " \n", + " \n", + " An increased amount of subcutaneous fat tissue around the neck.\n", + " definition of HP:0000468 (Increased adipose tissue around the neck)\n", + " \n", + " \n", + " #Increased fat around the neck\n", + " definition of HP:0000468 (Increased adipose tissue around the neck)\n", + " \n", + " \n", + " Superficial thrombophlebitis\n", + " definition of HP:0002638 (Superficial thrombophlebitis)\n", + " \n", + " \n", + " Inflammation of a superficial vein associated with venous thrombosis (blood clot formation within the vein).\n", + " definition of HP:0002638 (Superficial thrombophlebitis)\n", + " \n", + " \n", + " Transient\n", + " definition of HP:0025153 (Transient)\n", + " \n", + " \n", + " Short-lived and not permanent. This term applies to a phenotypic abnormality that is temporary and of short duration.\n", + " definition of HP:0025153 (Transient)\n", + " \n", + " \n", + " Anti-GM1 IgM antibody positivity\n", + " definition of HP:0034118 (Anti-GM1 IgM antibody positivity)\n", + " \n", + " \n", + " The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against GM1.\n", + " definition of HP:0034118 (Anti-GM1 IgM antibody positivity)\n", + " \n", + " \n", + " Splenic calcification\n", + " definition of HP:6000381 (Splenic calcification)\n", + " \n", + " \n", + " Calcification, that is, pathological deposition of calcium salts in the spleen.\n", + " definition of HP:6000381 (Splenic calcification)\n", + " \n", + " \n", + " Immediate Echolalia\n", + " definition of HP:5200072 (Immediate Echolalia)\n", + " \n", + " \n", + " Immediate repetition of another person's speech.\n", + " definition of HP:5200072 (Immediate Echolalia)\n", + " \n", + " \n", + " Asymmetrical distribution of flash visual evoked potentials\n", + " definition of HP:0030463 (Asymmetrical distribution of flash visual evoked potentials)\n", + " \n", + " \n", + " #Crossed asymmetry of flash visual evoked potentials\n", + " definition of HP:0030463 (Asymmetrical distribution of flash visual evoked potentials)\n", + " \n", + " \n", + " Macrocytic hemolytic disease\n", + " definition of HP:0005524 (Macrocytic hemolytic disease)\n", + " \n", + " \n", + " Conjunctival lipoma\n", + " definition of HP:0012549 (Conjunctival lipoma)\n", + " \n", + " \n", + " A lipoma (a benign tumor composed of adipose tissue) located in the conjunctiva.\n", + " definition of HP:0012549 (Conjunctival lipoma)\n", + " \n", + " \n", + " Increased sialylated N-glycan level\n", + " definition of HP:0410354 (Increased sialylated N-glycan level)\n", + " \n", + " \n", + " An abnormal increase in the concentration of sialylated N-glycans on glycoproteins.\n", + " definition of HP:0410354 (Increased sialylated N-glycan level)\n", + " \n", + " \n", + " #Increased concentration of sialylated N-glycans on glycoproteins\n", + " definition of HP:0410354 (Increased sialylated N-glycan level)\n", + " \n", + " \n", + " Abnormality of the outer ear\n", + " definition of HP:0000356 (Abnormality of the outer ear)\n", + " \n", + " \n", + " An abnormality of the external ear.\n", + " definition of HP:0000356 (Abnormality of the outer ear)\n", + " \n", + " \n", + " #Abnormal pinnae #Abnormality of the auricle #Abnormality of the external ear #Abnormality of the outer ear #Ear anomalies #External ear malformation #External ear malformations #Malformed pinnae #Outer ear abnormality\n", + " definition of HP:0000356 (Abnormality of the outer ear)\n", + " \n", + " \n", + " Anteriorly displaced urethral meatus\n", + " definition of HP:0008648 (Anteriorly displaced urethral meatus)\n", + " \n", + " \n", + " Increased level of ribitol in urine\n", + " definition of HP:0410070 (Increased level of ribitol in urine)\n", + " \n", + " \n", + " An increase in the level of ribitol in the urine. Ribotol is a crystalline pentose alcohol (C5H12O5) and is a metabolic end product formed by the reduction of ribose.\n", + " definition of HP:0410070 (Increased level of ribitol in urine)\n", + " \n", + " \n", + " Bronchial neoplasm\n", + " definition of HP:0030077 (Bronchial neoplasm)\n", + " \n", + " \n", + " A tumor originating in a bronchus.\n", + " definition of HP:0030077 (Bronchial neoplasm)\n", + " \n", + " \n", + " Prominent S wave in lead I\n", + " definition of HP:0032196 (Prominent S wave in lead I)\n", + " \n", + " \n", + " Increased amplitude (0.1 mV or more) and/or duration (40 ms or more) of the S wave as measured in lead I of the electrocardiogram.\n", + " definition of HP:0032196 (Prominent S wave in lead I)\n", + " \n", + " \n", + " Sinusitis\n", + " definition of HP:0000246 (Sinusitis)\n", + " \n", + " \n", + " Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction.\n", + " definition of HP:0000246 (Sinusitis)\n", + " \n", + " \n", + " #Sinus inflammation\n", + " definition of HP:0000246 (Sinusitis)\n", + " \n", + " \n", + " Absent vertebral body mineralization\n", + " definition of HP:0004605 (Absent vertebral body mineralization)\n", + " \n", + " \n", + " A lack of bone mineralization of the vertebral bodies.\n", + " definition of HP:0004605 (Absent vertebral body mineralization)\n", + " \n", + " \n", + " Vascular tortuosity\n", + " definition of HP:0004948 (Vascular tortuosity)\n", + " \n", + " \n", + " Abnormal twisting of arteries or veins.\n", + " definition of HP:0004948 (Vascular tortuosity)\n", + " \n", + " \n", + " #Twisted blood vessels\n", + " definition of HP:0004948 (Vascular tortuosity)\n", + " \n", + " \n", + " Progressive extrapyramidal muscular rigidity\n", + " definition of HP:0007158 (Progressive extrapyramidal muscular rigidity)\n", + " \n", + " \n", + " A progressive degree of muscular rigidity (continuous contraction of muscles with constant resistance to passive movement).\n", + " definition of HP:0007158 (Progressive extrapyramidal muscular rigidity)\n", + " \n", + " \n", + " #Progressive extrapyramidal rigidity\n", + " definition of HP:0007158 (Progressive extrapyramidal muscular rigidity)\n", + " \n", + " \n", + " Phonophobia\n", + " definition of HP:0002183 (Phonophobia)\n", + " \n", + " \n", + " An abnormally heightened sensitivity to loud sounds.\n", + " definition of HP:0002183 (Phonophobia)\n", + " \n", + " \n", + " #Fear of loud sounds\n", + " definition of HP:0002183 (Phonophobia)\n", + " \n", + " \n", + " Lagophthalmos\n", + " definition of HP:0030001 (Lagophthalmos)\n", + " \n", + " \n", + " A condition in which the eyelids do not close to cover the eye completely.\n", + " definition of HP:0030001 (Lagophthalmos)\n", + " \n", + " \n", + " #Eyelids stay open #Inability to close the eyelids\n", + " definition of HP:0030001 (Lagophthalmos)\n", + " \n", + " \n", + " Pancreatic abscess\n", + " definition of HP:0025079 (Pancreatic abscess)\n", + " \n", + " \n", + " A circumscribed area of pus or necrotic debris in the parenchyma of the pancreas.\n", + " definition of HP:0025079 (Pancreatic abscess)\n", + " \n", + " \n", + " #Pancreas abscess\n", + " definition of HP:0025079 (Pancreatic abscess)\n", + " \n", + " \n", + " Abnormal gonadotropin-releasing hormone concentration\n", + " definition of HP:0500012 (Abnormal gonadotropin-releasing hormone concentration)\n", + " \n", + " \n", + " A deviation from the normal circulating concentration of the normal gonadotropin-releasing hormone (GnRH). Intermittent GnRH secretion from the hypothalamus acts upon its receptor in the anterior pituitary to regulate the production and release of the gonadotropins, follicle-stimulating hormone (FSH) and luteinizing hormone (LH).\n", + " definition of HP:0500012 (Abnormal gonadotropin-releasing hormone concentration)\n", + " \n", + " \n", + " #Abnormality of GnRH level #Abnormality of gonadotropin-releasing hormone level\n", + " definition of HP:0500012 (Abnormal gonadotropin-releasing hormone concentration)\n", + " \n", + " \n", + " Esotropia\n", + " definition of HP:0000565 (Esotropia)\n", + " \n", + " \n", + " A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.\n", + " definition of HP:0000565 (Esotropia)\n", + " \n", + " \n", + " #Inward turning cross eyed\n", + " definition of HP:0000565 (Esotropia)\n", + " \n", + " \n", + " Abnormal lateral cricoarytenoid muscle morphology\n", + " definition of HP:3000067 (Abnormal lateral cricoarytenoid muscle morphology)\n", + " \n", + " \n", + " Any structural abnormality of a lateral crico-arytenoid muscle, which extends from the lateral cricoid cartilage to the muscular process of the arytenoid cartilage, and can adduct the vocal cords, which closes the rima glottidis and thereby protects the airway.\n", + " definition of HP:3000067 (Abnormal lateral cricoarytenoid muscle morphology)\n", + " \n", + " \n", + " #Abnormal anterior cricoarytenoid muscle morphology #Abnormality of lateral crico-arytenoid #Abnormality of lateral cricoarytenoid muscle\n", + " definition of HP:3000067 (Abnormal lateral cricoarytenoid muscle morphology)\n", + " \n", + " \n", + " Increased CSF threonine concentration\n", + " definition of HP:0500212 (Increased CSF threonine concentration)\n", + " \n", + " \n", + " Abnormally increased levels of threonine in cerebrospinal fluid.\n", + " definition of HP:0500212 (Increased CSF threonine concentration)\n", + " \n", + " \n", + " #High threonine levels in cerebrospinal fluid\n", + " definition of HP:0500212 (Increased CSF threonine concentration)\n", + " \n", + " \n", + " Hypoglycemic seizures\n", + " definition of HP:0002173 (Hypoglycemic seizures)\n", + " \n", + " \n", + " Elevated circulating 2-hydroxybutyric acid concentration\n", + " definition of HP:0033418 (Elevated circulating 2-hydroxybutyric acid concentration)\n", + " \n", + " \n", + " Elevation of the 2-hydroxybutyric acid concentration in the blood above the normal range.\n", + " definition of HP:0033418 (Elevated circulating 2-hydroxybutyric acid concentration)\n", + " \n", + " \n", + " Agenesis of maxillary lateral incisor\n", + " definition of HP:0000690 (Agenesis of maxillary lateral incisor)\n", + " \n", + " \n", + " Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor and maxillary lateral secondary incisor.\n", + " definition of HP:0000690 (Agenesis of maxillary lateral incisor)\n", + " \n", + " \n", + " #Absent upper lateral incisors #Failure of development of maxillary lateral incisor\n", + " definition of HP:0000690 (Agenesis of maxillary lateral incisor)\n", + " \n", + " \n", + " Slender ulna\n", + " definition of HP:0003992 (Slender ulna)\n", + " \n", + " \n", + " Reduction in diameter of the ulna.\n", + " definition of HP:0003992 (Slender ulna)\n", + " \n", + " \n", + " Lateral displacement of the femoral head\n", + " definition of HP:0006453 (Lateral displacement of the femoral head)\n", + " \n", + " \n", + " A developmental anomaly with lateral displacement of the femoral head.\n", + " definition of HP:0006453 (Lateral displacement of the femoral head)\n", + " \n", + " \n", + " #Laterally displaced femoral heads\n", + " definition of HP:0006453 (Lateral displacement of the femoral head)\n", + " \n", + " \n", + " Broad femoral head\n", + " definition of HP:0008804 (Broad femoral head)\n", + " \n", + " \n", + " Increased width of the femoral head.\n", + " definition of HP:0008804 (Broad femoral head)\n", + " \n", + " \n", + " #Wide head of thigh bone\n", + " definition of HP:0008804 (Broad femoral head)\n", + " \n", + " \n", + " Fragmentation of the epiphyses of the 5th toe\n", + " definition of HP:0100081 (Fragmentation of the epiphyses of the 5th toe)\n", + " \n", + " \n", + " #Fragmentation of the end part of the little toe bone #Fragmentation of the end part of the pinkie toe bone #Fragmentation of the end part of the pinky toe bone\n", + " definition of HP:0100081 (Fragmentation of the epiphyses of the 5th toe)\n", + " \n", + " \n", + " 1-2 finger cutaneous syndactyly\n", + " definition of HP:0010704 (1-2 finger cutaneous syndactyly)\n", + " \n", + " \n", + " A soft tissue continuity in the anteroposterior axis between the thumb to the index finger that extends distally to at least the level of the proximal interphalangeal joints.\n", + " definition of HP:0010704 (1-2 finger cutaneous syndactyly)\n", + " \n", + " \n", + " #Webbed 1st-2nd finger #Webbed thumb and index finger\n", + " definition of HP:0010704 (1-2 finger cutaneous syndactyly)\n", + " \n", + " \n", + " Increased serum estriol\n", + " definition of HP:0025136 (Increased serum estriol)\n", + " \n", + " \n", + " An elevation above normal limits of estriol concentration in the circulation.\n", + " definition of HP:0025136 (Increased serum estriol)\n", + " \n", + " \n", + " Abnormal pupillary light reflex\n", + " definition of HP:0007695 (Abnormal pupillary light reflex)\n", + " \n", + " \n", + " An abnormality of the reflex that controls the diameter of the pupil, in response to the intensity of light that falls on the retina of the eye.\n", + " definition of HP:0007695 (Abnormal pupillary light reflex)\n", + " \n", + " \n", + " Abnormality of circulating glucocorticoid level\n", + " definition of HP:0012111 (Abnormality of circulating glucocorticoid level)\n", + " \n", + " \n", + " An abnormality of the concentration of a glucocorticoid in the blood.\n", + " definition of HP:0012111 (Abnormality of circulating glucocorticoid level)\n", + " \n", + " \n", + " Impaired vibration sensation in the lower limbs\n", + " definition of HP:0002166 (Impaired vibration sensation in the lower limbs)\n", + " \n", + " \n", + " A decrease in the ability to perceive vibration in the legs.\n", + " definition of HP:0002166 (Impaired vibration sensation in the lower limbs)\n", + " \n", + " \n", + " #Decreased lower limb vibratory sense #Decreased vibratory sense in lower limbs #Decreased vibratory sense in the lower extremities #Decreased vibratory sense in the lower limbs #Diminished vibratory sensation in the legs #Distal sensory loss, especially vibratory sense #Distal vibratory impairment of the lower limbs #Impaired vibration sensation in the lower limbs\n", + " definition of HP:0002166 (Impaired vibration sensation in the lower limbs)\n", + " \n", + " \n", + " Abnormal pulmonary vein physiology\n", + " definition of HP:0030969 (Abnormal pulmonary vein physiology)\n", + " \n", + " \n", + " An abnormality of the function of the pulmonary veins.\n", + " definition of HP:0030969 (Abnormal pulmonary vein physiology)\n", + " \n", + " \n", + " Decreased CSF asialotransferrin to transferrin ratio\n", + " definition of HP:6000447 (Decreased CSF asialotransferrin to transferrin ratio)\n", + " \n", + " \n", + " The concentration of asialotransferrin relative to that of transferrin in the cerebrospinal fluid (CSF) is below the lower limit of normal.\n", + " definition of HP:6000447 (Decreased CSF asialotransferrin to transferrin ratio)\n", + " \n", + " \n", + " Depressed nasal bridge\n", + " definition of HP:0005280 (Depressed nasal bridge)\n", + " \n", + " \n", + " Posterior positioning of the nasal root in relation to the overall facial profile for age.\n", + " definition of HP:0005280 (Depressed nasal bridge)\n", + " \n", + " \n", + " #Depressed bridge of nose #Depressed nasal bridge #Depressed nasal root #Flat bridge of nose #Flat nasal bridge #Flat nasal root #Flat, nasal bridge #Flattened nasal bridge #Low nasal bridge #Low nasal root #Retruded bridge of nose #Retruded nasal bridge\n", + " definition of HP:0005280 (Depressed nasal bridge)\n", + " \n", + " \n", + " Anti-PKCgamma antibody\n", + " definition of HP:5000029 (Anti-PKCgamma antibody)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against protein kinase Cgamma.\n", + " definition of HP:5000029 (Anti-PKCgamma antibody)\n", + " \n", + " \n", + " #Anti-Protein kinase C gamma antibody\n", + " definition of HP:5000029 (Anti-PKCgamma antibody)\n", + " \n", + " \n", + " Absent distal phalanges\n", + " definition of HP:0005807 (Absent distal phalanges)\n", + " \n", + " \n", + " Aplasia (absence) of the distal phalanges.\n", + " definition of HP:0005807 (Absent distal phalanges)\n", + " \n", + " \n", + " #Absent outermost digital bones\n", + " definition of HP:0005807 (Absent distal phalanges)\n", + " \n", + " \n", + " Abnormal automated kinetic perimetry test\n", + " definition of HP:0030594 (Abnormal automated kinetic perimetry test)\n", + " \n", + " \n", + " Orbital inflammation\n", + " definition of HP:6000614 (Orbital inflammation)\n", + " \n", + " \n", + " An inflammatory condition localized to the orbit, presenting capillary dilatation, leukocytic infiltration, redness, heat, and pain. CT or MIR Imaging demonstrates enlargement of the muscle belly of one (or more) extraocular muscles typically with the involvement of tendinous insertions. Inflammation can also be observed in surrounding tissues, including the orbital fat, lacrimal gland, and optic nerve sheath.\n", + " definition of HP:6000614 (Orbital inflammation)\n", + " \n", + " \n", + " Abnormal urine carboxylic acid level\n", + " definition of HP:0031980 (Abnormal urine carboxylic acid level)\n", + " \n", + " \n", + " Any deviation from the normal concentration of a carboxylic acid in the urine.\n", + " definition of HP:0031980 (Abnormal urine carboxylic acid level)\n", + " \n", + " \n", + " High urinary gonadotropin level\n", + " definition of HP:0003492 (High urinary gonadotropin level)\n", + " \n", + " \n", + " An elevated concentration of a gonadotropin hormone (stimulating hormone or luteinizing hormone) in the urine, consistent with the diagnosis of primary hypogonadism.\n", + " definition of HP:0003492 (High urinary gonadotropin level)\n", + " \n", + " \n", + " Torus palatinus\n", + " definition of HP:0100789 (Torus palatinus)\n", + " \n", + " \n", + " A bony protrusion present on the midline of the hard palate.\n", + " definition of HP:0100789 (Torus palatinus)\n", + " \n", + " \n", + " #Palatal tori #Palatal torus #Palate exostoses\n", + " definition of HP:0100789 (Torus palatinus)\n", + " \n", + " \n", + " Fibrous cardiac diverticulum\n", + " definition of HP:0100572 (Fibrous cardiac diverticulum)\n", + " \n", + " \n", + " A fibrous cardiac diverticulum refers to an aneurysm and usually appears as an isolated congenital anomaly.\n", + " definition of HP:0100572 (Fibrous cardiac diverticulum)\n", + " \n", + " \n", + " #Congenital ventricular aneurysm\n", + " definition of HP:0100572 (Fibrous cardiac diverticulum)\n", + " \n", + " \n", + " Comedonal acne\n", + " definition of HP:0040137 (Comedonal acne)\n", + " \n", + " \n", + " A type of acne in which open and closed comedones comprise the majority of the lesions, with substantially fewer papules and pustules.\n", + " definition of HP:0040137 (Comedonal acne)\n", + " \n", + " \n", + " Radiating pain\n", + " definition of HP:6000684 (Radiating pain)\n", + " \n", + " \n", + " Pain that is perceived to extend or spread out from one area of the body to another.\n", + " definition of HP:6000684 (Radiating pain)\n", + " \n", + " \n", + " Carbamazepine exposure\n", + " definition of HP:4000116 (Carbamazepine exposure)\n", + " \n", + " \n", + " History of having taken carbamazepine.\n", + " definition of HP:4000116 (Carbamazepine exposure)\n", + " \n", + " \n", + " Decreased carnitine level in liver\n", + " definition of HP:0045061 (Decreased carnitine level in liver)\n", + " \n", + " \n", + " Dilatation of large choroidal vessels\n", + " definition of HP:0030979 (Dilatation of large choroidal vessels)\n", + " \n", + " \n", + " Enlargement of the large blood vessels in the choroid.\n", + " definition of HP:0030979 (Dilatation of large choroidal vessels)\n", + " \n", + " \n", + " #Dilated choroidal vessels\n", + " definition of HP:0030979 (Dilatation of large choroidal vessels)\n", + " \n", + " \n", + " Hordeolum internum\n", + " definition of HP:0010608 (Hordeolum internum)\n", + " \n", + " \n", + " Hordeola interna are acute purulent infections affecting the meibomian sebacious glands, often caused by staphylococcus infections. In contrast to chalazia (chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland), hordeola are extremely painfull and can cause extreme local swelling.\n", + " definition of HP:0010608 (Hordeolum internum)\n", + " \n", + " \n", + " #Stye of inner eyelid\n", + " definition of HP:0010608 (Hordeolum internum)\n", + " \n", + " \n", + " Abnormal circulating prealbumin concentration\n", + " definition of HP:0033450 (Abnormal circulating prealbumin concentration)\n", + " \n", + " \n", + " Any deviation from normal concentration of albumin in the blood circulation.\n", + " definition of HP:0033450 (Abnormal circulating prealbumin concentration)\n", + " \n", + " \n", + " Abnormal terminal:vellus ratio\n", + " definition of HP:0032495 (Abnormal terminal:vellus ratio)\n", + " \n", + " \n", + " A deviation from the normal proportion of terminal to vellus hairs.\n", + " definition of HP:0032495 (Abnormal terminal:vellus ratio)\n", + " \n", + " \n", + " Cutis laxa\n", + " definition of HP:0000973 (Cutis laxa)\n", + " \n", + " \n", + " Wrinkled, redundant, inelastic and sagging skin.\n", + " definition of HP:0000973 (Cutis laxa)\n", + " \n", + " \n", + " #Chalazoderma #Cutaneous laxity #Dermatochalasia #Dermatomegaly #Elastolysis #Generalised elastolysis #Generalized elastolysis #Hypoelastic skin #Inelastic skin #Lax skin #Loose and inelastic skin #Loose skin #Skin laxity\n", + " definition of HP:0000973 (Cutis laxa)\n", + " \n", + " \n", + " Short fifth metatarsal\n", + " definition of HP:0004704 (Short fifth metatarsal)\n", + " \n", + " \n", + " Short (hypoplastic) fifth metatarsal bone.\n", + " definition of HP:0004704 (Short fifth metatarsal)\n", + " \n", + " \n", + " #Hypoplasia of the fifth metatarsal bone #Short 5th long bone of foot\n", + " definition of HP:0004704 (Short fifth metatarsal)\n", + " \n", + " \n", + " Recurrent otitis media\n", + " definition of HP:0000403 (Recurrent otitis media)\n", + " \n", + " \n", + " Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.\n", + " definition of HP:0000403 (Recurrent otitis media)\n", + " \n", + " \n", + " #Frequent otitis media #Multiple episodes of otitis media #Otitis media, recurrent #Recurrent episodes of otitis media #Recurrent middle ear infection #Susceptibility to otitis media\n", + " definition of HP:0000403 (Recurrent otitis media)\n", + " \n", + " \n", + " Trident acetabulum\n", + " definition of HP:0034374 (Trident acetabulum)\n", + " \n", + " \n", + " Abnormal appearance of the acetabulum characterized by spurs at the medial and lateral acetabular margin and in the center of the acetabulum, giving rise to shape resembling a three-pronged spear sadi to resemble a trident.\n", + " definition of HP:0034374 (Trident acetabulum)\n", + " \n", + " \n", + " #Trident acetabula\n", + " definition of HP:0034374 (Trident acetabulum)\n", + " \n", + " \n", + " Abnormal keratinocyte morphology\n", + " definition of HP:0034702 (Abnormal keratinocyte morphology)\n", + " \n", + " \n", + " Any structural anomaly of the keratinocyte. The keratinocyte is the major cell type of the epidermis and is responsible for generating the protective barrier.\n", + " definition of HP:0034702 (Abnormal keratinocyte morphology)\n", + " \n", + " \n", + " Developmental stagnation\n", + " definition of HP:0007281 (Developmental stagnation)\n", + " \n", + " \n", + " A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills.\n", + " definition of HP:0007281 (Developmental stagnation)\n", + " \n", + " \n", + " #Developmental arrest\n", + " definition of HP:0007281 (Developmental stagnation)\n", + " \n", + " \n", + " Folliculitis\n", + " definition of HP:0025084 (Folliculitis)\n", + " \n", + " \n", + " Inflammatory cells within the wall and ostia of the hair follicle, creating a follicular-based pustule.\n", + " definition of HP:0025084 (Folliculitis)\n", + " \n", + " \n", + " #Follicular pustule #Hair follicle inflammation\n", + " definition of HP:0025084 (Folliculitis)\n", + " \n", + " \n", + " Impaired stimulus-induced skin wrinkling\n", + " definition of HP:0030331 (Impaired stimulus-induced skin wrinkling)\n", + " \n", + " \n", + " A reduced ability of the skin of the fingertips to wrinkle when exposed to stimuli such as soaking in water or application of EMLA cream (the fingertip remains smooth).\n", + " definition of HP:0030331 (Impaired stimulus-induced skin wrinkling)\n", + " \n", + " \n", + " Fixated interests\n", + " definition of HP:4000070 (Fixated interests)\n", + " \n", + " \n", + " Highly restricted, fixated interests that are abnormal in intensity or focus (e.g., strong attachment to or preoccupation with unusual objects, excessively circumscribed or perseverative interests).\n", + " definition of HP:4000070 (Fixated interests)\n", + " \n", + " \n", + " #Circumscribed interests #Restricted interests\n", + " definition of HP:4000070 (Fixated interests)\n", + " \n", + " \n", + " Ovarian cystadenoma\n", + " definition of HP:6000672 (Ovarian cystadenoma)\n", + " \n", + " \n", + " A common, benign ovarian tumor that carries a good prognosis. The two most frequent types of cystadenomas are serous and mucinous cystadenomas whereas endometrioid and clear cell cystadenomas are rare.\n", + " definition of HP:6000672 (Ovarian cystadenoma)\n", + " \n", + " \n", + " Central nervous system cyst\n", + " definition of HP:0030724 (Central nervous system cyst)\n", + " \n", + " \n", + " A fluid-filled sac (cyst) located within the central nervous system.\n", + " definition of HP:0030724 (Central nervous system cyst)\n", + " \n", + " \n", + " #CNS cyst #Cyst of the central nervous system\n", + " definition of HP:0030724 (Central nervous system cyst)\n", + " \n", + " \n", + " Super-refractory status epilepticus\n", + " definition of HP:0032868 (Super-refractory status epilepticus)\n", + " \n", + " \n", + " Super-refractory status epilepticus is defined as refractory status epilepticus continuing for 24 h or more following initiation of anesthetic medications, including cases in which seizure control is attained after induction of anesthetic drugs but recurs on weaning the patient off the anesthetic agent.\n", + " definition of HP:0032868 (Super-refractory status epilepticus)\n", + " \n", + " \n", + " Hypoplastic coccygeal vertebrae\n", + " definition of HP:0008447 (Hypoplastic coccygeal vertebrae)\n", + " \n", + " \n", + " Abnormal large intestinal mucosa morphology\n", + " definition of HP:0025090 (Abnormal large intestinal mucosa morphology)\n", + " \n", + " \n", + " A structural anomaly of the mucous lining of the large intestine.\n", + " definition of HP:0025090 (Abnormal large intestinal mucosa morphology)\n", + " \n", + " \n", + " History of total parenteral nutrition dependence\n", + " definition of HP:6000169 (History of total parenteral nutrition dependence)\n", + " \n", + " \n", + " A past medical history of a recent depence on total parenteral nutrition (TPN), which refers to intravenously administered nutrition being the only source of nutrition the patient is receiving.\n", + " definition of HP:6000169 (History of total parenteral nutrition dependence)\n", + " \n", + " \n", + " Bullet-shaped distal phalanx of the 2nd finger\n", + " definition of HP:0009559 (Bullet-shaped distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 2nd finger is affected.\n", + " definition of HP:0009559 (Bullet-shaped distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Bullet-shaped outermost bone of the index finger\n", + " definition of HP:0009559 (Bullet-shaped distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Abnormality of molar\n", + " definition of HP:0011077 (Abnormality of molar)\n", + " \n", + " \n", + " An abnormality of molar tooth.\n", + " definition of HP:0011077 (Abnormality of molar)\n", + " \n", + " \n", + " #Abnormality of molar\n", + " definition of HP:0011077 (Abnormality of molar)\n", + " \n", + " \n", + " Stage 1 chronic kidney disease\n", + " definition of HP:0012623 (Stage 1 chronic kidney disease)\n", + " \n", + " \n", + " A type of chronic kidney disease with normal or increased glomerular filtration rate (GFR at least 90 mL/min/1.73 m2).\n", + " definition of HP:0012623 (Stage 1 chronic kidney disease)\n", + " \n", + " \n", + " CD19 expression\n", + " definition of HP:0430101 (CD19 expression)\n", + " \n", + " \n", + " Detection of the presence of CD19 on the cell(s) of interest with the use of anti-CD19 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry).\n", + " definition of HP:0430101 (CD19 expression)\n", + " \n", + " \n", + " Palmoplantar hyperkeratosis\n", + " definition of HP:0000972 (Palmoplantar hyperkeratosis)\n", + " \n", + " \n", + " Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.\n", + " definition of HP:0000972 (Palmoplantar hyperkeratosis)\n", + " \n", + " \n", + " #Hyperkeratosis of palms and soles #Hyperkeratosis of the palms and soles #Palmoplantar keratoses #Palmoplantar keratosis #Thick palms and soles #Thickened palms and soles #Thickening of the outer layer of the skin of the palms and soles\n", + " definition of HP:0000972 (Palmoplantar hyperkeratosis)\n", + " \n", + " \n", + " Nodular corneal dystrophy\n", + " definition of HP:0007827 (Nodular corneal dystrophy)\n", + " \n", + " \n", + " Intestinal atresia\n", + " definition of HP:0011100 (Intestinal atresia)\n", + " \n", + " \n", + " An abnormal closure, or atresia of the tubular structure of the intestine.\n", + " definition of HP:0011100 (Intestinal atresia)\n", + " \n", + " \n", + " Difficulty adjusting from dark to light\n", + " definition of HP:0030514 (Difficulty adjusting from dark to light)\n", + " \n", + " \n", + " Long ulna\n", + " definition of HP:0003988 (Long ulna)\n", + " \n", + " \n", + " Increased length of the ulna.\n", + " definition of HP:0003988 (Long ulna)\n", + " \n", + " \n", + " #Disproportionately long ulnae\n", + " definition of HP:0003988 (Long ulna)\n", + " \n", + " \n", + " Tibiofibular diastasis\n", + " definition of HP:0100535 (Tibiofibular diastasis)\n", + " \n", + " \n", + " Abnormal morphology of the proximal phalanx of the 3rd toe\n", + " definition of HP:0010370 (Abnormal morphology of the proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " An anomaly of the proximal phalanx of third toe.\n", + " definition of HP:0010370 (Abnormal morphology of the proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Abnormality of the innermost bone of 3rd toe\n", + " definition of HP:0010370 (Abnormal morphology of the proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Fetal trigonocephaly\n", + " definition of HP:4000142 (Fetal trigonocephaly)\n", + " \n", + " \n", + " A fetal ultrasound finding defined by flattening of the occiput with pointing of the frontal bones and brachycephaly with an increased cephalic index. It is characterized by keel shaped deformity of forehead with midline ridge, bilateral fronto temporal constriction with compensatory biparietal expansion, supra orbital and lateral orbital retrusion and hypotelorism. This finding is said to resemble a strawberry.\n", + " definition of HP:4000142 (Fetal trigonocephaly)\n", + " \n", + " \n", + " #Foetal trigonocephaly #Strawberry sign #Strawberry skull #Strawberry-shaped skull\n", + " definition of HP:4000142 (Fetal trigonocephaly)\n", + " \n", + " \n", + " Temporal lobe dysplasia\n", + " definition of HP:0034222 (Temporal lobe dysplasia)\n", + " \n", + " \n", + " A developmental defect of the temporal lobe of the cerebral cortex that is characterized by prominent sulcations and radially directed gyrations.\n", + " definition of HP:0034222 (Temporal lobe dysplasia)\n", + " \n", + " \n", + " Neonatal seizure with bilateral symmetric automatism\n", + " definition of HP:0032835 (Neonatal seizure with bilateral symmetric automatism)\n", + " \n", + " \n", + " Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awareness, occurring at both sides of the body symmetrically.\n", + " definition of HP:0032835 (Neonatal seizure with bilateral symmetric automatism)\n", + " \n", + " \n", + " Abnormality of the calf\n", + " definition of HP:0002981 (Abnormality of the calf)\n", + " \n", + " \n", + " An abnormality of the calf, i.e. of the posterior part of the lower leg.\n", + " definition of HP:0002981 (Abnormality of the calf)\n", + " \n", + " \n", + " #Abnormality of the calf\n", + " definition of HP:0002981 (Abnormality of the calf)\n", + " \n", + " \n", + " Pituitary spindle cell oncocytoma\n", + " definition of HP:0011764 (Pituitary spindle cell oncocytoma)\n", + " \n", + " \n", + " A spindled-to-epithelioid, oncocytic, nonendocrine neoplasm of the anterior hypophysis that manifests in adults and follows a benign clinical course. Pituitary spindle cell oncocytomas are firm, fibrous, and adherent to surrounding structures and are highly vascular.\n", + " definition of HP:0011764 (Pituitary spindle cell oncocytoma)\n", + " \n", + " \n", + " Retinal dots\n", + " definition of HP:0032027 (Retinal dots)\n", + " \n", + " \n", + " Yellow, white or grayish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size.\n", + " definition of HP:0032027 (Retinal dots)\n", + " \n", + " \n", + " Intrapulmonary shunt\n", + " definition of HP:0031225 (Intrapulmonary shunt)\n", + " \n", + " \n", + " Blood flow through a region of the lung in which little or no ventilation takes place, resulting in reduced oxygenation of the blood leaving the lungs.\n", + " definition of HP:0031225 (Intrapulmonary shunt)\n", + " \n", + " \n", + " #Intrapulmonary shunting\n", + " definition of HP:0031225 (Intrapulmonary shunt)\n", + " \n", + " \n", + " Basilar invagination\n", + " definition of HP:0012366 (Basilar invagination)\n", + " \n", + " \n", + " Projection of the tip of the dens more than 5 mm above a line joining the hard palate to the posterior lip of the foramen magnum (Chamberlain's line) or the tip of the dens is greater than 7 mm above McGregor's line (the back of the hard palate to the lowest point of the occipital squama).\n", + " definition of HP:0012366 (Basilar invagination)\n", + " \n", + " \n", + " Elbow localization\n", + " definition of HP:6000136 (Elbow localization)\n", + " \n", + " \n", + " Applies to an abnormality that is situated in (or predominant in) the elbow.\n", + " definition of HP:6000136 (Elbow localization)\n", + " \n", + " \n", + " Posterior fossa localization\n", + " definition of HP:0430129 (Posterior fossa localization)\n", + " \n", + " \n", + " Localization to or predominance in the parts of the brain within the posterior fossa.\n", + " definition of HP:0430129 (Posterior fossa localization)\n", + " \n", + " \n", + " Exostosis of the external auditory canal\n", + " definition of HP:0004459 (Exostosis of the external auditory canal)\n", + " \n", + " \n", + " A benign bony growth projecting outward from a bone surface within the external auditory canal.\n", + " definition of HP:0004459 (Exostosis of the external auditory canal)\n", + " \n", + " \n", + " #External auditory canal exostoses\n", + " definition of HP:0004459 (Exostosis of the external auditory canal)\n", + " \n", + " \n", + " Levotransposition of the great arteries\n", + " definition of HP:0031349 (Levotransposition of the great arteries)\n", + " \n", + " \n", + " A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the left of the pulmonary artery.\n", + " definition of HP:0031349 (Levotransposition of the great arteries)\n", + " \n", + " \n", + " #L-TGA\n", + " definition of HP:0031349 (Levotransposition of the great arteries)\n", + " \n", + " \n", + " Alternating hypophoria\n", + " definition of HP:0500079 (Alternating hypophoria)\n", + " \n", + " \n", + " A type of vertical phoria in which, in dissociation, the occluded eye deviates downwards.\n", + " definition of HP:0500079 (Alternating hypophoria)\n", + " \n", + " \n", + " Tessier number 13 facial cleft\n", + " definition of HP:0031585 (Tessier number 13 facial cleft)\n", + " \n", + " \n", + " There is a paramedian frontal encephalocele and a soft tissue cleft that passes medial to an intact eyebrow. The frontal bone shows a paramedian bony cleft with an associated encephalocele. The olfactory groove, cribriform plate, and ethmoid sinus are all increased in transverse diameter, resulting in hypertelorism. The cleft extends medially to the undisturbed eyebrow to end in a short paramedian frontal widow's peak. The bony cleft begins in the region of the nasal bone and extends superiorly through the full height of the frontal bone. Posteriorly, the cleft extends through the cribriform plate and ethmoid sinus as far as the lesser wing and body of the sphenoid. The pterygoid processes are anatomically normal, but they are displaced laterally from the midline on the cleft side. There is orbital hypertelorism below and asymmetry of the floor of the anterior cranial fossa above.\n", + " definition of HP:0031585 (Tessier number 13 facial cleft)\n", + " \n", + " \n", + " Intratubular light-chain casts\n", + " definition of HP:0032630 (Intratubular light-chain casts)\n", + " \n", + " \n", + " The presence of casts containing immunoglobulin light chains within the lumina of the renal tubules.\n", + " definition of HP:0032630 (Intratubular light-chain casts)\n", + " \n", + " \n", + " Abnormal P50/N95 ratio of pattern electroretinogram\n", + " definition of HP:0030487 (Abnormal P50/N95 ratio of pattern electroretinogram)\n", + " \n", + " \n", + " Triggered by galactose ingestion\n", + " definition of HP:0025213 (Triggered by galactose ingestion)\n", + " \n", + " \n", + " Applies to a sign or symptom that is provoked or brought about by eating or drinking galactose. Galactose usually is ingested as lactose, which is composed of equimolar amounts of glucose and galactose.\n", + " definition of HP:0025213 (Triggered by galactose ingestion)\n", + " \n", + " \n", + " #Triggered by ingestion of lactose-containing milk\n", + " definition of HP:0025213 (Triggered by galactose ingestion)\n", + " \n", + " \n", + " Angiokeratoma\n", + " definition of HP:0001014 (Angiokeratoma)\n", + " \n", + " \n", + " Angiokeratomas are hyperkeratotic papules that are characterized histologically by superficial ectatic (i.e., dilated) blood vessels with epidermal proliferation. Clinically, angiokeratoma presents as a small, raised, dark-red spot.\n", + " definition of HP:0001014 (Angiokeratoma)\n", + " \n", + " \n", + " #Angiokeratomas\n", + " definition of HP:0001014 (Angiokeratoma)\n", + " \n", + " \n", + " Reduced ratio of renal calcium clearance to creatinine clearance\n", + " definition of HP:0003513 (Reduced ratio of renal calcium clearance to creatinine clearance)\n", + " \n", + " \n", + " A reduction of the ratio of renal calcium clearance to creatinine clearance to below 0.01.\n", + " definition of HP:0003513 (Reduced ratio of renal calcium clearance to creatinine clearance)\n", + " \n", + " \n", + " #Reduced ration of kidney calcium clearance to creatinine clearance #Reduced ration of renal Ca clearance to creatinine clearance #Reduced ration of renal Ca2+ to creatinine clearance\n", + " definition of HP:0003513 (Reduced ratio of renal calcium clearance to creatinine clearance)\n", + " \n", + " \n", + " Impaired convergence\n", + " definition of HP:0000619 (Impaired convergence)\n", + " \n", + " \n", + " Reduced ability to turn the eyes inward in order to focus on a nearby object.\n", + " definition of HP:0000619 (Impaired convergence)\n", + " \n", + " \n", + " #Convergence insufficiency\n", + " definition of HP:0000619 (Impaired convergence)\n", + " \n", + " \n", + " Vertebral arch anomaly\n", + " definition of HP:0008438 (Vertebral arch anomaly)\n", + " \n", + " \n", + " A morphological abnormality of the vertebral arch, i.e., of the posterior part of a vertebra.\n", + " definition of HP:0008438 (Vertebral arch anomaly)\n", + " \n", + " \n", + " #Vertebral arch abnormalities\n", + " definition of HP:0008438 (Vertebral arch anomaly)\n", + " \n", + " \n", + " Abnormal stool composition\n", + " definition of HP:0031685 (Abnormal stool composition)\n", + " \n", + " \n", + " Abnormal level of metabolite or other abnormal analyte result in a stool test.\n", + " definition of HP:0031685 (Abnormal stool composition)\n", + " \n", + " \n", + " #Abnormal faeces composition #Abnormal feces composition\n", + " definition of HP:0031685 (Abnormal stool composition)\n", + " \n", + " \n", + " Gelatinous ascites\n", + " definition of HP:0040414 (Gelatinous ascites)\n", + " \n", + " \n", + " A type of ascites characterized by copious amounts of mucinous ascites and mucinous peritoneal implants, leading to progressive obliteration of the peritoneal cavity and intestinal obstruction.\n", + " definition of HP:0040414 (Gelatinous ascites)\n", + " \n", + " \n", + " Shivering\n", + " definition of HP:0025144 (Shivering)\n", + " \n", + " \n", + " Involuntary contraction or twitching of the muscles.\n", + " definition of HP:0025144 (Shivering)\n", + " \n", + " \n", + " #Shivering #Shuddering\n", + " definition of HP:0025144 (Shivering)\n", + " \n", + " \n", + " Arteriovenous malformation of the maxilla\n", + " definition of HP:0031257 (Arteriovenous malformation of the maxilla)\n", + " \n", + " \n", + " An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the maxilla.\n", + " definition of HP:0031257 (Arteriovenous malformation of the maxilla)\n", + " \n", + " \n", + " Congenital malformation of the great arteries\n", + " definition of HP:0011603 (Congenital malformation of the great arteries)\n", + " \n", + " \n", + " Defect or defects of the morphogenesis of the aorta and pulmonary arteries.\n", + " definition of HP:0011603 (Congenital malformation of the great arteries)\n", + " \n", + " \n", + " Chemodectoma\n", + " definition of HP:0030074 (Chemodectoma)\n", + " \n", + " \n", + " A usually benign neoplasm originating in the chemoreceptor tissue of the carotid body, glomus jugulare, glomus tympanicum, aortic bodies, or the female genital tract.\n", + " definition of HP:0030074 (Chemodectoma)\n", + " \n", + " \n", + " #Chemodectomas\n", + " definition of HP:0030074 (Chemodectoma)\n", + " \n", + " \n", + " Nodular melanoma\n", + " definition of HP:0012058 (Nodular melanoma)\n", + " \n", + " \n", + " A type of melanoma that starts as a raised area that is usually dark blackish-blue or bluish-red but may not have any color.\n", + " definition of HP:0012058 (Nodular melanoma)\n", + " \n", + " \n", + " Aplasia of the pectoralis major muscle\n", + " definition of HP:0009751 (Aplasia of the pectoralis major muscle)\n", + " \n", + " \n", + " Absence of the pectoralis major muscle.\n", + " definition of HP:0009751 (Aplasia of the pectoralis major muscle)\n", + " \n", + " \n", + " #Absent pectoralis major muscle\n", + " definition of HP:0009751 (Aplasia of the pectoralis major muscle)\n", + " \n", + " \n", + " Gaucher cells\n", + " definition of HP:6000893 (Gaucher cells)\n", + " \n", + " \n", + " Glucosylceramide forms fibrillar aggregates that accumulate in macrophages and result in the cell cytoplasm presenting a characteristic crumpled tissue paper appearance. These cells, known as Gaucher cells, infiltrate various organs (e.g., bone marrow, spleen, and liver) and are responsible for the major signs of Gaucher disease.\n", + " definition of HP:6000893 (Gaucher cells)\n", + " \n", + " \n", + " Anti-islet antigen-2 antibody positivity\n", + " definition of HP:0034063 (Anti-islet antigen-2 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against tyrosine phosphatase IA-2.\n", + " definition of HP:0034063 (Anti-islet antigen-2 antibody positivity)\n", + " \n", + " \n", + " #Anti-IA2 antibody positivity #Anti-IA2A #ICA512\n", + " definition of HP:0034063 (Anti-islet antigen-2 antibody positivity)\n", + " \n", + " \n", + " Pancreatic islet cell adenoma\n", + " definition of HP:0008261 (Pancreatic islet cell adenoma)\n", + " \n", + " \n", + " The presence of an adenoma of the pancreas with origin in a pancreatic B cell.\n", + " definition of HP:0008261 (Pancreatic islet cell adenoma)\n", + " \n", + " \n", + " Crazy paving pattern\n", + " definition of HP:0025391 (Crazy paving pattern)\n", + " \n", + " \n", + " The so-called crazy paving pattern appears as thickened interlobular septa and intralobular lines superimposed on a background of ground-glass opacity, resembling irregularly shaped paving stones. The crazy-paving pattern is often sharply demarcated from more normal lung and may have a geographic outline. It was originally reported in patients with alveolar proteinosis and is also encountered in other diffuse lung diseases that affect both the interstitial and airspace compartments, such as lipoid pneumonia.\n", + " definition of HP:0025391 (Crazy paving pattern)\n", + " \n", + " \n", + " #Crazy paving pattern on pulmonary HRCT #Crazy-paving pattern\n", + " definition of HP:0025391 (Crazy paving pattern)\n", + " \n", + " \n", + " Abnormal reflex\n", + " definition of HP:0031826 (Abnormal reflex)\n", + " \n", + " \n", + " Any anomaly of a reflex, i.e., of an automatic response mediated by the nervous system (a reflex does not need the intervention of conscious thought to occur).\n", + " definition of HP:0031826 (Abnormal reflex)\n", + " \n", + " \n", + " Abnormality of pineal physiology\n", + " definition of HP:0012688 (Abnormality of pineal physiology)\n", + " \n", + " \n", + " A functional abnormality of the pineal gland.\n", + " definition of HP:0012688 (Abnormality of pineal physiology)\n", + " \n", + " \n", + " Cardiac shunt\n", + " definition of HP:0001693 (Cardiac shunt)\n", + " \n", + " \n", + " Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system.\n", + " definition of HP:0001693 (Cardiac shunt)\n", + " \n", + " \n", + " Absent vas deferens\n", + " definition of HP:0012873 (Absent vas deferens)\n", + " \n", + " \n", + " Aplasia (congenital absence) of the vas deferens.\n", + " definition of HP:0012873 (Absent vas deferens)\n", + " \n", + " \n", + " #Absent deferent duct #Absent ductus deferens #Congenital absence of the vas deferens\n", + " definition of HP:0012873 (Absent vas deferens)\n", + " \n", + " \n", + " Immobile lump\n", + " definition of HP:0025760 (Immobile lump)\n", + " \n", + " \n", + " This modifier is applied to a palpable mass or swelling in the body that cannot be moved or shifted under the skin when pressed or manipulated.\n", + " definition of HP:0025760 (Immobile lump)\n", + " \n", + " \n", + " #Immobile mass\n", + " definition of HP:0025760 (Immobile lump)\n", + " \n", + " \n", + " Hepatoblastoma\n", + " definition of HP:0002884 (Hepatoblastoma)\n", + " \n", + " \n", + " A kind of neoplasm of the liver that originates from immature liver precursor cells and macroscopically is composed of tissue resembling fetal or mature liver cells or bile ducts.\n", + " definition of HP:0002884 (Hepatoblastoma)\n", + " \n", + " \n", + " Abnormality of the vertebral endplates\n", + " definition of HP:0005106 (Abnormality of the vertebral endplates)\n", + " \n", + " \n", + " Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral disks.\n", + " definition of HP:0005106 (Abnormality of the vertebral endplates)\n", + " \n", + " \n", + " Low-output congestive heart failure\n", + " definition of HP:0009805 (Low-output congestive heart failure)\n", + " \n", + " \n", + " A form of heart failure characterized by reduced cardiac output. This may be seen in patients with heart failure owing to ischemic heart disease, hypertension, cardiomyopathy, and other causes.\n", + " definition of HP:0009805 (Low-output congestive heart failure)\n", + " \n", + " \n", + " Lop ear\n", + " definition of HP:0000394 (Lop ear)\n", + " \n", + " \n", + " Anterior and inferior folding of the upper portion of the ear that obliterates triangular fossa and scapha.\n", + " definition of HP:0000394 (Lop ear)\n", + " \n", + " \n", + " Interrupted aortic arch type B\n", + " definition of HP:0011613 (Interrupted aortic arch type B)\n", + " \n", + " \n", + " Non-continuity of the aortic arch with an atretic point or absent segment between the left carotid and subclavian arteries.\n", + " definition of HP:0011613 (Interrupted aortic arch type B)\n", + " \n", + " \n", + " #Interrupted aortic arch, type b\n", + " definition of HP:0011613 (Interrupted aortic arch type B)\n", + " \n", + " \n", + " Hemifacial hypertrophy\n", + " definition of HP:0005323 (Hemifacial hypertrophy)\n", + " \n", + " \n", + " Unilateral overgrowth of facial tissues, including muscles, bones and skin.\n", + " definition of HP:0005323 (Hemifacial hypertrophy)\n", + " \n", + " \n", + " #Enlargement of half of face #Facial hemihypertophy #Hemifacial enlargement #Hypertrophy of half of face #Increase in size of half of face #Overgrowth of half of face\n", + " definition of HP:0005323 (Hemifacial hypertrophy)\n", + " \n", + " \n", + " Short dental root\n", + " definition of HP:0006336 (Short dental root)\n", + " \n", + " \n", + " Tooth root length more than 2 SD below mean, or subjectively apparently decreased tooth root length.\n", + " definition of HP:0006336 (Short dental root)\n", + " \n", + " \n", + " #Decreased length of dental roots #Decreased length of tooth roots #Dental root hypoplasia #Dental root hypotrophy #Rhizomicry #Root dwarfism #Short dental roots #Short tooth roots #Underdeveloped dental roots\n", + " definition of HP:0006336 (Short dental root)\n", + " \n", + " \n", + " Proximal/middle symphalangism of 4th finger\n", + " definition of HP:0009477 (Proximal/middle symphalangism of 4th finger)\n", + " \n", + " \n", + " Fusion of the proximal and middle phalanges of the 4th finger.\n", + " definition of HP:0009477 (Proximal/middle symphalangism of 4th finger)\n", + " \n", + " \n", + " #Fused innermost and middle bone of fourth finger\n", + " definition of HP:0009477 (Proximal/middle symphalangism of 4th finger)\n", + " \n", + " \n", + " Hypochloremia\n", + " definition of HP:0003113 (Hypochloremia)\n", + " \n", + " \n", + " An abnormally decreased chloride concentration in the blood.\n", + " definition of HP:0003113 (Hypochloremia)\n", + " \n", + " \n", + " #Low blood chloride levels\n", + " definition of HP:0003113 (Hypochloremia)\n", + " \n", + " \n", + " Complete breech presentation\n", + " definition of HP:0010860 (Complete breech presentation)\n", + " \n", + " \n", + " A kind of breech presentation in which the hips are flexed and the knees are flexed.\n", + " definition of HP:0010860 (Complete breech presentation)\n", + " \n", + " \n", + " Pseudoepiphysis of the 4th metacarpal\n", + " definition of HP:0010225 (Pseudoepiphysis of the 4th metacarpal)\n", + " \n", + " \n", + " The normal epiphysis of the fourth metacarpal is localized at the distal end of the metacarpal bone. This term applies if an accessory epiphysis, located at the proximal end of the metacarpal bone, is present.\n", + " definition of HP:0010225 (Pseudoepiphysis of the 4th metacarpal)\n", + " \n", + " \n", + " Abnormality of thrombocytes\n", + " definition of HP:0001872 (Abnormality of thrombocytes)\n", + " \n", + " \n", + " An abnormality of platelets.\n", + " definition of HP:0001872 (Abnormality of thrombocytes)\n", + " \n", + " \n", + " #Platelet abnormalities\n", + " definition of HP:0001872 (Abnormality of thrombocytes)\n", + " \n", + " \n", + " Elevated plasma pyrophosphate\n", + " definition of HP:0011864 (Elevated plasma pyrophosphate)\n", + " \n", + " \n", + " An abnormally increased diphosphate(4-) concentration in the blood. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate.\n", + " definition of HP:0011864 (Elevated plasma pyrophosphate)\n", + " \n", + " \n", + " Agenesis of mandibular premolar\n", + " definition of HP:0011053 (Agenesis of mandibular premolar)\n", + " \n", + " \n", + " Agenesis of mandibular premolar.\n", + " definition of HP:0011053 (Agenesis of mandibular premolar)\n", + " \n", + " \n", + " #Failure of development of mandibular premolar\n", + " definition of HP:0011053 (Agenesis of mandibular premolar)\n", + " \n", + " \n", + " Renal tubular herpes simplex virus inclusions\n", + " definition of HP:0032956 (Renal tubular herpes simplex virus inclusions)\n", + " \n", + " \n", + " Renal tubular nuclear inclusions that stain positive for herpes simplex virus (HSV). HSV is typically associated with multinucleated giant cells with nuclear inclusions and may cause hemorrhagic interstitial nephritis.\n", + " definition of HP:0032956 (Renal tubular herpes simplex virus inclusions)\n", + " \n", + " \n", + " Abnormal visual field test\n", + " definition of HP:0030588 (Abnormal visual field test)\n", + " \n", + " \n", + " Abnormal result of a test designed to test an individual's central and peripheral vision by determining the ability of the individual to perceive objects at differing locations of the visual field.\n", + " definition of HP:0030588 (Abnormal visual field test)\n", + " \n", + " \n", + " Mesangiolysis\n", + " definition of HP:0030762 (Mesangiolysis)\n", + " \n", + " \n", + " Partial or complete dissolution of the mesangial matrix, identified by reduced staining on a periodic acid-Schiff (PAS) or silver stain.\n", + " definition of HP:0030762 (Mesangiolysis)\n", + " \n", + " \n", + " Broad distal phalanx of finger\n", + " definition of HP:0009836 (Broad distal phalanx of finger)\n", + " \n", + " \n", + " Abnormally wide (broad) distal phalanx of finger.\n", + " definition of HP:0009836 (Broad distal phalanx of finger)\n", + " \n", + " \n", + " #Broad distal phalanges #Broad distal phalanges of the hand #Broad distal phalanx #Broad outermost finger bone #Broad terminal phalanges #Broad, square ends of distal phalanges #Spatulate terminal phalanges\n", + " definition of HP:0009836 (Broad distal phalanx of finger)\n", + " \n", + " \n", + " Chronic pancreatitis\n", + " definition of HP:0006280 (Chronic pancreatitis)\n", + " \n", + " \n", + " A chronic form of pancreatitis.\n", + " definition of HP:0006280 (Chronic pancreatitis)\n", + " \n", + " \n", + " #Chronic pancreas inflammation\n", + " definition of HP:0006280 (Chronic pancreatitis)\n", + " \n", + " \n", + " Elevated circulating DOPA concentration\n", + " definition of HP:0034604 (Elevated circulating DOPA concentration)\n", + " \n", + " \n", + " Concentration of DOPA (3,4-dihydroxyphenylalanine) in the blood circulation above the upper limit of normal.\n", + " definition of HP:0034604 (Elevated circulating DOPA concentration)\n", + " \n", + " \n", + " #DOPA high in blood #Elevated circulating 3,4-dihydroxyphenylalanine concentration\n", + " definition of HP:0034604 (Elevated circulating DOPA concentration)\n", + " \n", + " \n", + " Post-partum hemorrhage\n", + " definition of HP:0011891 (Post-partum hemorrhage)\n", + " \n", + " \n", + " Significant maternal hemorrhage/blood loss following deilvery of a child.\n", + " definition of HP:0011891 (Post-partum hemorrhage)\n", + " \n", + " \n", + " #Bleeding post-delivery #Post-partum hemorrhage\n", + " definition of HP:0011891 (Post-partum hemorrhage)\n", + " \n", + " \n", + " Subependymal cysts\n", + " definition of HP:0002416 (Subependymal cysts)\n", + " \n", + " \n", + " Cerebral cysts, usually located in the wall of the caudate nucleus or in the caudothalamic groove. They are found in up to 5.2% of all neonates, using transfontanellar ultrasound in the first days of life.\n", + " definition of HP:0002416 (Subependymal cysts)\n", + " \n", + " \n", + " #Subependymal germinolytic cyst #Subependymal pseudocyst\n", + " definition of HP:0002416 (Subependymal cysts)\n", + " \n", + " \n", + " Wheezing\n", + " definition of HP:0030828 (Wheezing)\n", + " \n", + " \n", + " A high-pitched whistling sound associated with labored breathing.\n", + " definition of HP:0030828 (Wheezing)\n", + " \n", + " \n", + " #Wheezing\n", + " definition of HP:0030828 (Wheezing)\n", + " \n", + " \n", + " Abnormal urine amino acid level\n", + " definition of HP:0025745 (Abnormal urine amino acid level)\n", + " \n", + " \n", + " Sclerosis of hand bone\n", + " definition of HP:0004054 (Sclerosis of hand bone)\n", + " \n", + " \n", + " Osteosclerosis affecting one or more bones of the hand.\n", + " definition of HP:0004054 (Sclerosis of hand bone)\n", + " \n", + " \n", + " #Generalised sclerosis of hand bones #Generalized sclerosis of hand bones #Hand bone sclerosis #Increased bone density in hand bone #Increased bone density in hand bones\n", + " definition of HP:0004054 (Sclerosis of hand bone)\n", + " \n", + " \n", + " Elevated blood bismuth concentration\n", + " definition of HP:6000887 (Elevated blood bismuth concentration)\n", + " \n", + " \n", + " The concentration of bismuth in the blood is above the upper limit of a guidance value for total blood bismuth concentrations that implies possible injurious effects.\n", + " definition of HP:6000887 (Elevated blood bismuth concentration)\n", + " \n", + " \n", + " Biceps areflexia\n", + " definition of HP:0033230 (Biceps areflexia)\n", + " \n", + " \n", + " Inability to elicit biceps tendon reflex.\n", + " definition of HP:0033230 (Biceps areflexia)\n", + " \n", + " \n", + " #Areflexia of biceps\n", + " definition of HP:0033230 (Biceps areflexia)\n", + " \n", + " \n", + " Mobitz I atrioventricular block\n", + " definition of HP:0011707 (Mobitz I atrioventricular block)\n", + " \n", + " \n", + " Progressive PR interval prolongation with the subsequent occurrence of a single nonconducted P wave that results in a pause. The pause that follows the nonconducted impulse is less than fully compensatory (less than the sum of two normal sinus intervals).\n", + " definition of HP:0011707 (Mobitz I atrioventricular block)\n", + " \n", + " \n", + " #Mobitz type 1 atrioventricular block #Wenckebach block\n", + " definition of HP:0011707 (Mobitz I atrioventricular block)\n", + " \n", + " \n", + " Decreased circulating aldosterone concentration\n", + " definition of HP:0004319 (Decreased circulating aldosterone concentration)\n", + " \n", + " \n", + " Abnormally reduced levels of aldosterone.\n", + " definition of HP:0004319 (Decreased circulating aldosterone concentration)\n", + " \n", + " \n", + " #Decreased aldosterone #Decreased aldosterone production #Decreased serum aldosterone #Hypoaldosteronism #Low blood aldosterone level #Mineralocorticoid insufficiency\n", + " definition of HP:0004319 (Decreased circulating aldosterone concentration)\n", + " \n", + " \n", + " Duodenal atresia\n", + " definition of HP:0002247 (Duodenal atresia)\n", + " \n", + " \n", + " A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum.\n", + " definition of HP:0002247 (Duodenal atresia)\n", + " \n", + " \n", + " #Absence or narrowing of first part of small bowel\n", + " definition of HP:0002247 (Duodenal atresia)\n", + " \n", + " \n", + " Absence of the pulmonary valve\n", + " definition of HP:0005134 (Absence of the pulmonary valve)\n", + " \n", + " \n", + " Refers to the specific combination of defects with a severely dysplastic pulmonary valve and massively dilated branch pulmonary arteries.\n", + " definition of HP:0005134 (Absence of the pulmonary valve)\n", + " \n", + " \n", + " #Absent pulmonary valve\n", + " definition of HP:0005134 (Absence of the pulmonary valve)\n", + " \n", + " \n", + " Thickened intrahepatic portal venules\n", + " definition of HP:0034570 (Thickened intrahepatic portal venules)\n", + " \n", + " \n", + " Increased width of the vascular wall of portal venules within the liver.\n", + " definition of HP:0034570 (Thickened intrahepatic portal venules)\n", + " \n", + " \n", + " Thyroid hyperplasia\n", + " definition of HP:0008249 (Thyroid hyperplasia)\n", + " \n", + " \n", + " Hyperplasia of the thyroid gland.\n", + " definition of HP:0008249 (Thyroid hyperplasia)\n", + " \n", + " \n", + " #Large thyroid\n", + " definition of HP:0008249 (Thyroid hyperplasia)\n", + " \n", + " \n", + " Osteosclerosis of the base of the skull\n", + " definition of HP:0005746 (Osteosclerosis of the base of the skull)\n", + " \n", + " \n", + " An increase in bone density affecting the basicranium (base of the skull).\n", + " definition of HP:0005746 (Osteosclerosis of the base of the skull)\n", + " \n", + " \n", + " #Osteosclerosis of the skull base\n", + " definition of HP:0005746 (Osteosclerosis of the base of the skull)\n", + " \n", + " \n", + " Mitral chordae tendinae rupture\n", + " definition of HP:0034419 (Mitral chordae tendinae rupture)\n", + " \n", + " \n", + " Breakage of the chordae tendinae of the mitral valve. This can lead to loss of tension of one of the mitral valve leaflets and mitral regurgitation.\n", + " definition of HP:0034419 (Mitral chordae tendinae rupture)\n", + " \n", + " \n", + " #Flail mitral valve leaflet #Mitral chordae tendineae rupture\n", + " definition of HP:0034419 (Mitral chordae tendinae rupture)\n", + " \n", + " \n", + " Intestinal obstruction\n", + " definition of HP:0005214 (Intestinal obstruction)\n", + " \n", + " \n", + " Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal.\n", + " definition of HP:0005214 (Intestinal obstruction)\n", + " \n", + " \n", + " #Bowel obstruction #Intestinal blockage #Intestinal obstruction\n", + " definition of HP:0005214 (Intestinal obstruction)\n", + " \n", + " \n", + " Absent specific antibody response\n", + " definition of HP:0005424 (Absent specific antibody response)\n", + " \n", + " \n", + " Absence of specific immunoglobulins directed against a specific antigen or microorganism.\n", + " definition of HP:0005424 (Absent specific antibody response)\n", + " \n", + " \n", + " Clinodactyly of the thumb\n", + " definition of HP:0040023 (Clinodactyly of the thumb)\n", + " \n", + " \n", + " Stippled chondral calcification\n", + " definition of HP:0002764 (Stippled chondral calcification)\n", + " \n", + " \n", + " Punctate (speckled, dot-like) deposition of calcium of calcium salts in the articular cartilage (cartilage located in joints).\n", + " definition of HP:0002764 (Stippled chondral calcification)\n", + " \n", + " \n", + " Right ventricular hypertrophy\n", + " definition of HP:0001667 (Right ventricular hypertrophy)\n", + " \n", + " \n", + " In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal.\n", + " definition of HP:0001667 (Right ventricular hypertrophy)\n", + " \n", + " \n", + " #Heart right ventricle hypertrophy\n", + " definition of HP:0001667 (Right ventricular hypertrophy)\n", + " \n", + " \n", + " Generalized-onset motor seizure\n", + " definition of HP:0032677 (Generalized-onset motor seizure)\n", + " \n", + " \n", + " A generalized motor seizure is a type of generalized-onset seizure with predominantly motor (involving musculature) signs. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.\n", + " definition of HP:0032677 (Generalized-onset motor seizure)\n", + " \n", + " \n", + " #Generalised onset motor seizure #Generalised-onset motor seizure #Generalized onset motor seizure\n", + " definition of HP:0032677 (Generalized-onset motor seizure)\n", + " \n", + " \n", + " Abnormal conjunctiva morphology\n", + " definition of HP:0000502 (Abnormal conjunctiva morphology)\n", + " \n", + " \n", + " An abnormality of the conjunctiva.\n", + " definition of HP:0000502 (Abnormal conjunctiva morphology)\n", + " \n", + " \n", + " Decreased circulating prealbumin concentration\n", + " definition of HP:0031085 (Decreased circulating prealbumin concentration)\n", + " \n", + " \n", + " Concentration of prealbumin in the blood circulation below the lower limit of normal. Prealbumin, also known as transthyretin, has a half-life in plasma of about 2 days, much shorter than that of albumin. Prealbumin is therefore more sensitive to changes in protein-energy status than albumin, and its concentration closely reflects recent dietary intake rather than overall nutritional status.\n", + " definition of HP:0031085 (Decreased circulating prealbumin concentration)\n", + " \n", + " \n", + " #Decreased prealbumin level\n", + " definition of HP:0031085 (Decreased circulating prealbumin concentration)\n", + " \n", + " \n", + " Hypercalcemia\n", + " definition of HP:0003072 (Hypercalcemia)\n", + " \n", + " \n", + " An abnormally increased calcium concentration in the blood.\n", + " definition of HP:0003072 (Hypercalcemia)\n", + " \n", + " \n", + " #High blood calcium levels #Hypercalcaemia #Increased calcium in blood\n", + " definition of HP:0003072 (Hypercalcemia)\n", + " \n", + " \n", + " Abnormality of the pubic hair\n", + " definition of HP:0100133 (Abnormality of the pubic hair)\n", + " \n", + " \n", + " Abnormality of the growth of the pubic hair. Pubic hair is part of the secondary sexual hair, which normally ensues during puberty.\n", + " definition of HP:0100133 (Abnormality of the pubic hair)\n", + " \n", + " \n", + " #Abnormality of the pubic hair\n", + " definition of HP:0100133 (Abnormality of the pubic hair)\n", + " \n", + " \n", + " Severe temper tantrums\n", + " definition of HP:0025162 (Severe temper tantrums)\n", + " \n", + " \n", + " Temper tantrums, which occur with more severe symptomatology compared to a temper tantrum that occurs as a part of normal developmental process.\n", + " definition of HP:0025162 (Severe temper tantrums)\n", + " \n", + " \n", + " Localized area of pendulous skin\n", + " definition of HP:0025182 (Localized area of pendulous skin)\n", + " \n", + " \n", + " A confined region of lax skin that hangs below the level of the surrounding skin. Histopatholigically, there is a loss of elastic fibers in the dermis of the affected region.\n", + " definition of HP:0025182 (Localized area of pendulous skin)\n", + " \n", + " \n", + " #Localised area of pendulous skin\n", + " definition of HP:0025182 (Localized area of pendulous skin)\n", + " \n", + " \n", + " Gastrointestinal atresia\n", + " definition of HP:0002589 (Gastrointestinal atresia)\n", + " \n", + " \n", + " #GI atresia\n", + " definition of HP:0002589 (Gastrointestinal atresia)\n", + " \n", + " \n", + " Anti-BP180 antibody positivity\n", + " definition of HP:4000020 (Anti-BP180 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against BP180.\n", + " definition of HP:4000020 (Anti-BP180 antibody positivity)\n", + " \n", + " \n", + " Curved distal phalanx of the 5th toe\n", + " definition of HP:0100451 (Curved distal phalanx of the 5th toe)\n", + " \n", + " \n", + " A deviation from the normal straight form of the distal phalanx of the fifth toe.\n", + " definition of HP:0100451 (Curved distal phalanx of the 5th toe)\n", + " \n", + " \n", + " #Curved outermost bone of the little toe #Curved outermost bone of the pinkie toe #Curved outermost bone of the pinky toe\n", + " definition of HP:0100451 (Curved distal phalanx of the 5th toe)\n", + " \n", + " \n", + " Sub-lamina densa cleavage\n", + " definition of HP:0033803 (Sub-lamina densa cleavage)\n", + " \n", + " \n", + " A type of blistering in which the cleavage plane of blisters is located below the lamina densa.\n", + " definition of HP:0033803 (Sub-lamina densa cleavage)\n", + " \n", + " \n", + " #Blistering with sub-lamina densa plane of cleavage\n", + " definition of HP:0033803 (Sub-lamina densa cleavage)\n", + " \n", + " \n", + " Agenesis of maxillary central incisor\n", + " definition of HP:0006293 (Agenesis of maxillary central incisor)\n", + " \n", + " \n", + " Agenesis of upper secondary incisor or of upper central primary incisor.\n", + " definition of HP:0006293 (Agenesis of maxillary central incisor)\n", + " \n", + " \n", + " #Failure of development of maxillary central incisor\n", + " definition of HP:0006293 (Agenesis of maxillary central incisor)\n", + " \n", + " \n", + " Impaired ability to form peer relationships\n", + " definition of HP:0000728 (Impaired ability to form peer relationships)\n", + " \n", + " \n", + " Difficulty to establish relations with others in a comparable social group (peers) that may be manifested in pehnomena such as not being able to initiative a conversation, understand social cues, or to discuss shared interests. This feature is associated with poor integration within a community or group.\n", + " definition of HP:0000728 (Impaired ability to form peer relationships)\n", + " \n", + " \n", + " Macular schisis\n", + " definition of HP:0011511 (Macular schisis)\n", + " \n", + " \n", + " Splitting of the retina in the macular region.\n", + " definition of HP:0011511 (Macular schisis)\n", + " \n", + " \n", + " Perilobar nephroblastomatosis\n", + " definition of HP:0011796 (Perilobar nephroblastomatosis)\n", + " \n", + " \n", + " Abnormally persistent foci of embryonal immature blastema located in the superficial cortical region (perilobar).\n", + " definition of HP:0011796 (Perilobar nephroblastomatosis)\n", + " \n", + " \n", + " Phimosis\n", + " definition of HP:0001741 (Phimosis)\n", + " \n", + " \n", + " The male foreskin cannot be fully retracted from the head of the penis.\n", + " definition of HP:0001741 (Phimosis)\n", + " \n", + " \n", + " Onychomadesis\n", + " definition of HP:0025088 (Onychomadesis)\n", + " \n", + " \n", + " Complete shedding (separation) of the nail from the proximal matrix. Onychomadesis is the proximal separation of the nail plate from the nail matrix due to a temporary cessation of nail growth.\n", + " definition of HP:0025088 (Onychomadesis)\n", + " \n", + " \n", + " Abnormal waist to hip ratio\n", + " definition of HP:0031818 (Abnormal waist to hip ratio)\n", + " \n", + " \n", + " A deviation from normal of the waist to hip ratio, defined as the waist measurement divided by hip measurement.\n", + " definition of HP:0031818 (Abnormal waist to hip ratio)\n", + " \n", + " \n", + " Metabolic acidosis\n", + " definition of HP:0001942 (Metabolic acidosis)\n", + " \n", + " \n", + " Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.\n", + " definition of HP:0001942 (Metabolic acidosis)\n", + " \n", + " \n", + " Subcortical localization\n", + " definition of HP:0430130 (Subcortical localization)\n", + " \n", + " \n", + " Localization to or predominance in the subcortical region of the brain.\n", + " definition of HP:0430130 (Subcortical localization)\n", + " \n", + " \n", + " Abnormal Z disk morphology\n", + " definition of HP:0020202 (Abnormal Z disk morphology)\n", + " \n", + " \n", + " Any structural anomaly of the Z disk, which is the platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached.\n", + " definition of HP:0020202 (Abnormal Z disk morphology)\n", + " \n", + " \n", + " Aortic valve calcification\n", + " definition of HP:0004380 (Aortic valve calcification)\n", + " \n", + " \n", + " Deposition of calcium salts in the aortic valve.\n", + " definition of HP:0004380 (Aortic valve calcification)\n", + " \n", + " \n", + " Stippling of the epiphysis of the proximal phalanx of the 4th toe\n", + " definition of HP:0100200 (Stippling of the epiphysis of the proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 4th toe.\n", + " definition of HP:0100200 (Stippling of the epiphysis of the proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " #Speckled calcifications in the end part of the innermost bone of the 4th toe\n", + " definition of HP:0100200 (Stippling of the epiphysis of the proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " Thickened tricuspid valve cusp\n", + " definition of HP:6001068 (Thickened tricuspid valve cusp)\n", + " \n", + " \n", + " An abnormally increased thickness of a leaflet of the tricuspid valve.\n", + " definition of HP:6001068 (Thickened tricuspid valve cusp)\n", + " \n", + " \n", + " Abnormal nerve conduction velocity\n", + " definition of HP:0040129 (Abnormal nerve conduction velocity)\n", + " \n", + " \n", + " #Abnormal nerve conduction #Abnormal nerve conduction velocities #Nerve conduction abnormalities\n", + " definition of HP:0040129 (Abnormal nerve conduction velocity)\n", + " \n", + " \n", + " Aphasia\n", + " definition of HP:0002381 (Aphasia)\n", + " \n", + " \n", + " An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write.\n", + " definition of HP:0002381 (Aphasia)\n", + " \n", + " \n", + " #Difficulty finding words #Losing words #Loss of words\n", + " definition of HP:0002381 (Aphasia)\n", + " \n", + " \n", + " Closed fracture\n", + " definition of HP:4000051 (Closed fracture)\n", + " \n", + " \n", + " A type of fracture in which the broken bone that does not penetrate the skin.\n", + " definition of HP:4000051 (Closed fracture)\n", + " \n", + " \n", + " Enlarged epiphysis of the distal phalanx of the 3rd finger\n", + " definition of HP:0009338 (Enlarged epiphysis of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms.\n", + " definition of HP:0009338 (Enlarged epiphysis of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Enlarged end part of the outermost bone of the 3rd finger\n", + " definition of HP:0009338 (Enlarged epiphysis of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Hypoglycemic coma\n", + " definition of HP:0001325 (Hypoglycemic coma)\n", + " \n", + " \n", + " Coma induced by low blood sugar.\n", + " definition of HP:0001325 (Hypoglycemic coma)\n", + " \n", + " \n", + " #Coma caused by low blood sugar #Coma, hypoglycemic #Hypoglycaemic coma #Hypoglycemic coma #Loss of consciousness due to hypoglycemia\n", + " definition of HP:0001325 (Hypoglycemic coma)\n", + " \n", + " \n", + " Abnormality of the thenar eminence\n", + " definition of HP:0001227 (Abnormality of the thenar eminence)\n", + " \n", + " \n", + " An abnormality of the thenar eminence, i.e., of the muscle on the palm of the human hand just beneath the thumb.\n", + " definition of HP:0001227 (Abnormality of the thenar eminence)\n", + " \n", + " \n", + " #Thenar abnormality\n", + " definition of HP:0001227 (Abnormality of the thenar eminence)\n", + " \n", + " \n", + " Hoarse cry\n", + " definition of HP:0001615 (Hoarse cry)\n", + " \n", + " \n", + " #Hoarse cry\n", + " definition of HP:0001615 (Hoarse cry)\n", + " \n", + " \n", + " Abnormal pulmonary fissure count\n", + " definition of HP:0032993 (Abnormal pulmonary fissure count)\n", + " \n", + " \n", + " A deviation from the normal number of pulmonary fissures.\n", + " definition of HP:0032993 (Abnormal pulmonary fissure count)\n", + " \n", + " \n", + " Androgen insufficiency\n", + " definition of HP:0008226 (Androgen insufficiency)\n", + " \n", + " \n", + " Insufficient amount of androgenic activity.\n", + " definition of HP:0008226 (Androgen insufficiency)\n", + " \n", + " \n", + " #Hypoandrogenism\n", + " definition of HP:0008226 (Androgen insufficiency)\n", + " \n", + " \n", + " Metatarsal diaphyseal endosteal sclerosis\n", + " definition of HP:0008114 (Metatarsal diaphyseal endosteal sclerosis)\n", + " \n", + " \n", + " Osteosclerosis of the endosteal surface of the diaphyses (shafts) of the metatarsal bones.\n", + " definition of HP:0008114 (Metatarsal diaphyseal endosteal sclerosis)\n", + " \n", + " \n", + " Triggered by vestibular stimulation\n", + " definition of HP:0025229 (Triggered by vestibular stimulation)\n", + " \n", + " \n", + " Applies to a sign or symptom that is provoked or brought about by vestibular stimulation, including head turning, cold calorics, postural changes, or rotating chair.\n", + " definition of HP:0025229 (Triggered by vestibular stimulation)\n", + " \n", + " \n", + " #Vestibular stimulation triggered attacks #Vestibular stimulation triggered symptoms\n", + " definition of HP:0025229 (Triggered by vestibular stimulation)\n", + " \n", + " \n", + " Abnormal buccal fat pad morphology\n", + " definition of HP:3000021 (Abnormal buccal fat pad morphology)\n", + " \n", + " \n", + " An abnormality of a buccal fat pad.\n", + " definition of HP:3000021 (Abnormal buccal fat pad morphology)\n", + " \n", + " \n", + " #Abnormality of buccal fat pad\n", + " definition of HP:3000021 (Abnormal buccal fat pad morphology)\n", + " \n", + " \n", + " Altitudinal visual field defect\n", + " definition of HP:0030531 (Altitudinal visual field defect)\n", + " \n", + " \n", + " Late onset atopic dermatitis\n", + " definition of HP:0007573 (Late onset atopic dermatitis)\n", + " \n", + " \n", + " A form of atopic dermatitis with onset in adulthood characterized by atopic red face, chronic lichenified eczema on the trunk, subacute or psoriasiform dermatitis.\n", + " definition of HP:0007573 (Late onset atopic dermatitis)\n", + " \n", + " \n", + " Pulp calcification\n", + " definition of HP:0003771 (Pulp calcification)\n", + " \n", + " \n", + " Pulp calcifications may appear as punctate calcifications, irregular, roughly spherical mineralized masses in any part of the pulp. It may occur isolated or associated to calcifications elsewhere such as the carotid arteries and kidneys. The diagnosis pulp calcifications can be established using radiological studies.\n", + " definition of HP:0003771 (Pulp calcification)\n", + " \n", + " \n", + " #Pulp calcifications #Pulp denticles #Pulp stones #Pulpoliths\n", + " definition of HP:0003771 (Pulp calcification)\n", + " \n", + " \n", + " Renal interstitial amyloid deposits\n", + " definition of HP:0032613 (Renal interstitial amyloid deposits)\n", + " \n", + " \n", + " Deposition of amyloid in the interstitial tissue of the kidney. Amyloid is is made up of 10 nm (on average) fibrils that are most commonly composed of monoclonal light chains (AL), transthyretin (TTR), amd LECT2, or occur in the setting of long standing systemic inflammation.\n", + " definition of HP:0032613 (Renal interstitial amyloid deposits)\n", + " \n", + " \n", + " #Renal interstitial amyloid #Renal interstitial amyloid deposition #Renal interstitial amyloidosis\n", + " definition of HP:0032613 (Renal interstitial amyloid deposits)\n", + " \n", + " \n", + " Steroid-sensitive nephrotic syndrome with frequent relapses\n", + " definition of HP:0025649 (Steroid-sensitive nephrotic syndrome with frequent relapses)\n", + " \n", + " \n", + " A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of two or more relapses (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response or four or more relapses in any 12-month period.\n", + " definition of HP:0025649 (Steroid-sensitive nephrotic syndrome with frequent relapses)\n", + " \n", + " \n", + " Absent scrotum\n", + " definition of HP:0008707 (Absent scrotum)\n", + " \n", + " \n", + " Congenital absence of the scrotum.\n", + " definition of HP:0008707 (Absent scrotum)\n", + " \n", + " \n", + " #Absent scrotum\n", + " definition of HP:0008707 (Absent scrotum)\n", + " \n", + " \n", + " Abnormal fear-induced behavior\n", + " definition of HP:0100852 (Abnormal fear-induced behavior)\n", + " \n", + " \n", + " An abnormal fear-induced behavior includes observable actions. This behavior is characterized by abnormal responses to fear or abnormal fear levels. Examples of such behavior include avoiding fear-inducing situations.\n", + " definition of HP:0100852 (Abnormal fear-induced behavior)\n", + " \n", + " \n", + " #Abnormal fear-induced behavior #Abnormal fear/anxiety-related behavior #Abnormal fear/anxiety-related behaviour\n", + " definition of HP:0100852 (Abnormal fear-induced behavior)\n", + " \n", + " \n", + " Abnormal tubular basement membrane morphology\n", + " definition of HP:0020131 (Abnormal tubular basement membrane morphology)\n", + " \n", + " \n", + " Abnormal structure of the basement membrane of the renal tubulus.\n", + " definition of HP:0020131 (Abnormal tubular basement membrane morphology)\n", + " \n", + " \n", + " Absent Bell phenomenon\n", + " definition of HP:6000709 (Absent Bell phenomenon)\n", + " \n", + " \n", + " The Bell phenomenon is the reflex upward movement of the front of the eyeball when the eyelids close (or blink). It protects the eye by helping to keep the cornea moist. This term refers to a lack of this phenomenon, which can be observed with certain conditions such as congenital fibrosis of the extraocular muscles.\n", + " definition of HP:6000709 (Absent Bell phenomenon)\n", + " \n", + " \n", + " #Absent palpebral-oculogyric reflex\n", + " definition of HP:6000709 (Absent Bell phenomenon)\n", + " \n", + " \n", + " Decreased specific antibody response to protein-conjugated polysaccharide vaccine\n", + " definition of HP:0410302 (Decreased specific antibody response to protein-conjugated polysaccharide vaccine)\n", + " \n", + " \n", + " A reduced ability to synthesize postvaccination antibodies against protein-conjugated polysaccharides in vaccines, as measured by antibody titer determination following vaccination.\n", + " definition of HP:0410302 (Decreased specific antibody response to protein-conjugated polysaccharide vaccine)\n", + " \n", + " \n", + " Deep plantar creases\n", + " definition of HP:0001869 (Deep plantar creases)\n", + " \n", + " \n", + " The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot.\n", + " definition of HP:0001869 (Deep plantar creases)\n", + " \n", + " \n", + " #Deep wrinkles in soles of feet\n", + " definition of HP:0001869 (Deep plantar creases)\n", + " \n", + " \n", + " Aplasia/Hypoplasia affecting the anterior segment of the eye\n", + " definition of HP:0008062 (Aplasia/Hypoplasia affecting the anterior segment of the eye)\n", + " \n", + " \n", + " Absence or underdevelopment of the anterior segment of the eye.\n", + " definition of HP:0008062 (Aplasia/Hypoplasia affecting the anterior segment of the eye)\n", + " \n", + " \n", + " Primary obstructive megaureter\n", + " definition of HP:4000035 (Primary obstructive megaureter)\n", + " \n", + " \n", + " Megaurater associated with obstruction or an adynamic ureteral segment in the ureterovesical junction.\n", + " definition of HP:4000035 (Primary obstructive megaureter)\n", + " \n", + " \n", + " Transient ischemic attack\n", + " definition of HP:0002326 (Transient ischemic attack)\n", + " \n", + " \n", + " #Mini stroke #TIA #Transient ischaemic attack #Transient ischaemic attacks #Transient ischemic attacks\n", + " definition of HP:0002326 (Transient ischemic attack)\n", + " \n", + " \n", + " Barrel-shaped chest\n", + " definition of HP:0001552 (Barrel-shaped chest)\n", + " \n", + " \n", + " A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis.\n", + " definition of HP:0001552 (Barrel-shaped chest)\n", + " \n", + " \n", + " #Barrel chest #Barrel-shaped chest\n", + " definition of HP:0001552 (Barrel-shaped chest)\n", + " \n", + " \n", + " Abnormal communicative facial expressions\n", + " definition of HP:4000087 (Abnormal communicative facial expressions)\n", + " \n", + " \n", + " Abnormal expressions (movements or position of muscles of the face that convey the emotional state of an individual to observers during social interactions) comprising abnormalities of quantity, range, context-appropriateness, and quality.\n", + " definition of HP:4000087 (Abnormal communicative facial expressions)\n", + " \n", + " \n", + " #Abnormal facial expression use\n", + " definition of HP:4000087 (Abnormal communicative facial expressions)\n", + " \n", + " \n", + " Increased proportion of effector memory CD4-positive, alpha-beta T cells\n", + " definition of HP:0410394 (Increased proportion of effector memory CD4-positive, alpha-beta T cells)\n", + " \n", + " \n", + " An abnormally elevated proportion of effector memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.\n", + " definition of HP:0410394 (Increased proportion of effector memory CD4-positive, alpha-beta T cells)\n", + " \n", + " \n", + " Deformed tarsal bones\n", + " definition of HP:0008119 (Deformed tarsal bones)\n", + " \n", + " \n", + " #Deformed ankle bones\n", + " definition of HP:0008119 (Deformed tarsal bones)\n", + " \n", + " \n", + " Intracranial dermoid cyst\n", + " definition of HP:0012097 (Intracranial dermoid cyst)\n", + " \n", + " \n", + " A congenital inclusion cysts that arises from the inclusion of ectodermally committed cells at the time of neural tube closure (3rd-5th week of embryogenesis). The capsule of dermoid cysts consists of simple epithelium supported by collagen. In thicker parts, the lining is supplemented with dermis containing hair follicles, sebaceous glands, and apocrine glands.\n", + " definition of HP:0012097 (Intracranial dermoid cyst)\n", + " \n", + " \n", + " Male urethral meatus stenosis\n", + " definition of HP:0032077 (Male urethral meatus stenosis)\n", + " \n", + " \n", + " An abnormal narrowing of the urethral opening (meatus) of the penis.\n", + " definition of HP:0032077 (Male urethral meatus stenosis)\n", + " \n", + " \n", + " #Meatal stenosis #Meatus stenosis\n", + " definition of HP:0032077 (Male urethral meatus stenosis)\n", + " \n", + " \n", + " Abnormality of the male genitalia\n", + " definition of HP:0010461 (Abnormality of the male genitalia)\n", + " \n", + " \n", + " Abnormality of the male genital system.\n", + " definition of HP:0010461 (Abnormality of the male genitalia)\n", + " \n", + " \n", + " #Abnormal male genitals #Abnormality of the male genitalia\n", + " definition of HP:0010461 (Abnormality of the male genitalia)\n", + " \n", + " \n", + " Abnormality of facial musculature\n", + " definition of HP:0000301 (Abnormality of facial musculature)\n", + " \n", + " \n", + " An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve).\n", + " definition of HP:0000301 (Abnormality of facial musculature)\n", + " \n", + " \n", + " #Abnormality of facial muscles #Facial muscle issue\n", + " definition of HP:0000301 (Abnormality of facial musculature)\n", + " \n", + " \n", + " Anti-nucleoporin 62 antibody positivity\n", + " definition of HP:0033556 (Anti-nucleoporin 62 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against nucleoporin 62.\n", + " definition of HP:0033556 (Anti-nucleoporin 62 antibody positivity)\n", + " \n", + " \n", + " #Anti-p62 antibody positivity\n", + " definition of HP:0033556 (Anti-nucleoporin 62 antibody positivity)\n", + " \n", + " \n", + " Glomerular karyhorrhectic debris\n", + " definition of HP:0033291 (Glomerular karyhorrhectic debris)\n", + " \n", + " \n", + " Apoptotic, pyknotic, and fragmented nuclei within the glomerulus.\n", + " definition of HP:0033291 (Glomerular karyhorrhectic debris)\n", + " \n", + " \n", + " Reduced bone-marrow pro-B cell count\n", + " definition of HP:0020048 (Reduced bone-marrow pro-B cell count)\n", + " \n", + " \n", + " A reduction in the numbers of pro-B cells (defined by coexpression of CD34 and CD19). Earlier B-cell precursors are defined by expressing surface CD34 and cytoplasmic TdT in the absence of CD19.\n", + " definition of HP:0020048 (Reduced bone-marrow pro-B cell count)\n", + " \n", + " \n", + " Abnormality of spinal facet joint\n", + " definition of HP:0030870 (Abnormality of spinal facet joint)\n", + " \n", + " \n", + " An anomaly of the small joints located between and behind adjacent vertebrae.\n", + " definition of HP:0030870 (Abnormality of spinal facet joint)\n", + " \n", + " \n", + " #Abnormality of apophyseal joint #Abnormality of Z-joint #Abnormality of zygapophyseal joint #Abnormality of zygapophysial joint\n", + " definition of HP:0030870 (Abnormality of spinal facet joint)\n", + " \n", + " \n", + " Dilatation of celiac artery\n", + " definition of HP:0100858 (Dilatation of celiac artery)\n", + " \n", + " \n", + " Abnormal outpouching or sac-like dilatation in the wall of the celiac artery.\n", + " definition of HP:0100858 (Dilatation of celiac artery)\n", + " \n", + " \n", + " #Dilatation of coeliac artery\n", + " definition of HP:0100858 (Dilatation of celiac artery)\n", + " \n", + " \n", + " Distributed along Blaschko lines\n", + " definition of HP:0025293 (Distributed along Blaschko lines)\n", + " \n", + " \n", + " Applies to an abnormality whose localization corresponds to the lines of Blaschko, which correspond to the lineage of epithelia cells. Blaschko lines are normally invisible but may become apparent with certain skin diseases and then can be seen to be distributed in lines horizontal to the body.\n", + " definition of HP:0025293 (Distributed along Blaschko lines)\n", + " \n", + " \n", + " 5-minute APGAR score of 3\n", + " definition of HP:0030923 (5-minute APGAR score of 3)\n", + " \n", + " \n", + " Blood group AB\n", + " definition of HP:0032441 (Blood group AB)\n", + " \n", + " \n", + " ABO phenotype AB, corresponding to the genotype AB.\n", + " definition of HP:0032441 (Blood group AB)\n", + " \n", + " \n", + " Epidural hemorrhage\n", + " definition of HP:0100310 (Epidural hemorrhage)\n", + " \n", + " \n", + " Hemorrhage occurring between the dura mater and the skull.\n", + " definition of HP:0100310 (Epidural hemorrhage)\n", + " \n", + " \n", + " #Epidural haematoma #Epidural haemorrhage #Epidural hematoma #Extradural haematoma #Extradural hematoma\n", + " definition of HP:0100310 (Epidural hemorrhage)\n", + " \n", + " \n", + " Fractured phalanx of pes\n", + " definition of HP:0041240 (Fractured phalanx of pes)\n", + " \n", + " \n", + " A partial or complete breakage of the phalanx of pes.\n", + " definition of HP:0041240 (Fractured phalanx of pes)\n", + " \n", + " \n", + " #bone phalanx of pes\n", + " definition of HP:0041240 (Fractured phalanx of pes)\n", + " \n", + " \n", + " Hypoplasia of the fovea\n", + " definition of HP:0007750 (Hypoplasia of the fovea)\n", + " \n", + " \n", + " Underdevelopment of the fovea centralis.\n", + " definition of HP:0007750 (Hypoplasia of the fovea)\n", + " \n", + " \n", + " #Foveal hypoplasia\n", + " definition of HP:0007750 (Hypoplasia of the fovea)\n", + " \n", + " \n", + " Macular cotton wool spot\n", + " definition of HP:0030497 (Macular cotton wool spot)\n", + " \n", + " \n", + " Fluffy white patch on the macula, representing localized areas of dense white swelling of the retinal nerve fiber layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels.\n", + " definition of HP:0030497 (Macular cotton wool spot)\n", + " \n", + " \n", + " Fractured skull\n", + " definition of HP:0041082 (Fractured skull)\n", + " \n", + " \n", + " A partial or complete breakage of the skull.\n", + " definition of HP:0041082 (Fractured skull)\n", + " \n", + " \n", + " Anti-B23 antibody positivity\n", + " definition of HP:0034089 (Anti-B23 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against B23.\n", + " definition of HP:0034089 (Anti-B23 antibody positivity)\n", + " \n", + " \n", + " Urachus fistula\n", + " definition of HP:0100525 (Urachus fistula)\n", + " \n", + " \n", + " Persistence of the urachal canal with drainage of urine from the bladder through the persistent allantois canal to the umbilicus.\n", + " definition of HP:0100525 (Urachus fistula)\n", + " \n", + " \n", + " Septic pulmonary embolism\n", + " definition of HP:0033639 (Septic pulmonary embolism)\n", + " \n", + " \n", + " Embolization of intravascular thrombus containing microorganisms into the pulmonary parenchyma via arterial system. Septic pulmonary embolism (PE) can be associated with multiple additional clinical manifestations such as fever, tachypnea, and hemoptysis. This HPO term refers to the finding of the septic embolus in the lung, which can be inferred from radiological findings. Typical radiographic features of septic PE include patchy air space lesions simulating non-specific bronchopneumonia; multiple ill defined round or wedge shaped densities of varying sizes from approximately 0.5 to 3.5 cm located peripherally; lesions abutting the pleura and located at the end of vessels (feeding vessel sign) seen on chest CT scans. Other pulmonary features suggesting septic PE include bilateral, occasional unilateral, rapid progression of cavities or abscess formations.\n", + " definition of HP:0033639 (Septic pulmonary embolism)\n", + " \n", + " \n", + " #Septic pulmonary emboli\n", + " definition of HP:0033639 (Septic pulmonary embolism)\n", + " \n", + " \n", + " Growth arrest lines\n", + " definition of HP:0031164 (Growth arrest lines)\n", + " \n", + " \n", + " Growth arrest lines are alternating transverse rings of sclerosis at the metaphysis of a long bone.\n", + " definition of HP:0031164 (Growth arrest lines)\n", + " \n", + " \n", + " #Growth resumption lines #Harris lines\n", + " definition of HP:0031164 (Growth arrest lines)\n", + " \n", + " \n", + " Decreased circulating apolipoprotein E concentration\n", + " definition of HP:0034911 (Decreased circulating apolipoprotein E concentration)\n", + " \n", + " \n", + " Concentration of apolipoprotein E below the lower limit of normal.\n", + " definition of HP:0034911 (Decreased circulating apolipoprotein E concentration)\n", + " \n", + " \n", + " Square face\n", + " definition of HP:0000321 (Square face)\n", + " \n", + " \n", + " Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance.\n", + " definition of HP:0000321 (Square face)\n", + " \n", + " \n", + " #Square face #Square facial shape #Square facies\n", + " definition of HP:0000321 (Square face)\n", + " \n", + " \n", + " Recurrent external ophthalmoplegia\n", + " definition of HP:0007250 (Recurrent external ophthalmoplegia)\n", + " \n", + " \n", + " Alternating and recurrent weakness of the external ocular muscles.\n", + " definition of HP:0007250 (Recurrent external ophthalmoplegia)\n", + " \n", + " \n", + " Hepatic vein thrombosis\n", + " definition of HP:0030243 (Hepatic vein thrombosis)\n", + " \n", + " \n", + " An obstruction in the veins of the liver caused by a blood clot (thrombosis).\n", + " definition of HP:0030243 (Hepatic vein thrombosis)\n", + " \n", + " \n", + " #Blood clot in liver vein #Hepatic venous thrombosis\n", + " definition of HP:0030243 (Hepatic vein thrombosis)\n", + " \n", + " \n", + " Complete duplication of the middle phalanx of the 4th toe\n", + " definition of HP:0100411 (Complete duplication of the middle phalanx of the 4th toe)\n", + " \n", + " \n", + " Complete duplication of middle phalanx of fourth toe.\n", + " definition of HP:0100411 (Complete duplication of the middle phalanx of the 4th toe)\n", + " \n", + " \n", + " #Complete duplication of the middle bone of the 4th toe #Complete duplication of the middle phalanx of the fourth toe\n", + " definition of HP:0100411 (Complete duplication of the middle phalanx of the 4th toe)\n", + " \n", + " \n", + " Bulimia\n", + " definition of HP:0100739 (Bulimia)\n", + " \n", + " \n", + " A form of anomalous eating behavior characterized by binge eating is followed by self-induced vomiting or other compensatory behavior intended to prevent weight gain (purging, fasting or exercising or a combination of these).\n", + " definition of HP:0100739 (Bulimia)\n", + " \n", + " \n", + " #Binge and purge\n", + " definition of HP:0100739 (Bulimia)\n", + " \n", + " \n", + " Abnormal posterior segment imaging\n", + " definition of HP:0030601 (Abnormal posterior segment imaging)\n", + " \n", + " \n", + " Partial duplication of the middle phalanges of the hand\n", + " definition of HP:0010005 (Partial duplication of the middle phalanges of the hand)\n", + " \n", + " \n", + " A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the middle phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.\n", + " definition of HP:0010005 (Partial duplication of the middle phalanges of the hand)\n", + " \n", + " \n", + " #Partial duplication of the middle bones of hand\n", + " definition of HP:0010005 (Partial duplication of the middle phalanges of the hand)\n", + " \n", + " \n", + " Ear pain\n", + " definition of HP:0030766 (Ear pain)\n", + " \n", + " \n", + " Pain in the ear can be a consequence of otologic disease (primary or otogenic otalgia), or can arise from pathologic processes and structures other than the ear (secondary or referred otalgia).\n", + " definition of HP:0030766 (Ear pain)\n", + " \n", + " \n", + " #Ear pain #Otalgia #Pain in the ear\n", + " definition of HP:0030766 (Ear pain)\n", + " \n", + " \n", + " Gait apraxia\n", + " definition of HP:0010521 (Gait apraxia)\n", + " \n", + " \n", + " Gait apraxia affecting the ability to make walking movements with the legs.\n", + " definition of HP:0010521 (Gait apraxia)\n", + " \n", + " \n", + " Elevated urine 3-hydroxyglutaric level\n", + " definition of HP:0034656 (Elevated urine 3-hydroxyglutaric level)\n", + " \n", + " \n", + " The concentration of 3-hydroxyglutaric acid in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:0034656 (Elevated urine 3-hydroxyglutaric level)\n", + " \n", + " \n", + " #3-hydroxyglutaric acid high in urine\n", + " definition of HP:0034656 (Elevated urine 3-hydroxyglutaric level)\n", + " \n", + " \n", + " Renal tubular lysine transport defect\n", + " definition of HP:0008272 (Renal tubular lysine transport defect)\n", + " \n", + " \n", + " Low anterior hairline\n", + " definition of HP:0000294 (Low anterior hairline)\n", + " \n", + " \n", + " Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella.\n", + " definition of HP:0000294 (Low anterior hairline)\n", + " \n", + " \n", + " #Low frontal hairline #Low-set frontal hairline\n", + " definition of HP:0000294 (Low anterior hairline)\n", + " \n", + " \n", + " Microtropia\n", + " definition of HP:0031724 (Microtropia)\n", + " \n", + " \n", + " A small angle heterotropia (usually of 10 diopters or less) in which a form of binocular single vision occurs.\n", + " definition of HP:0031724 (Microtropia)\n", + " \n", + " \n", + " Abnormal primary molar morphology\n", + " definition of HP:0006344 (Abnormal primary molar morphology)\n", + " \n", + " \n", + " An abnormality of morphology of primary molar.\n", + " definition of HP:0006344 (Abnormal primary molar morphology)\n", + " \n", + " \n", + " #Abnormality of deciduous molar morphology #Abnormality of primary molar morphology #Abnormality of shape of baby molar #Abnormality of shape of primary molar\n", + " definition of HP:0006344 (Abnormal primary molar morphology)\n", + " \n", + " \n", + " Mucinous neoplasm\n", + " definition of HP:0031495 (Mucinous neoplasm)\n", + " \n", + " \n", + " Inertia\n", + " definition of HP:0030216 (Inertia)\n", + " \n", + " \n", + " Reduction of goal-directed behaviors linked to the impairment in frontal executive functions (planning of an action for example).\n", + " definition of HP:0030216 (Inertia)\n", + " \n", + " \n", + " Stool xenobiotic\n", + " definition of HP:0500097 (Stool xenobiotic)\n", + " \n", + " \n", + " Presence of xenobiotic in stool.\n", + " definition of HP:0500097 (Stool xenobiotic)\n", + " \n", + " \n", + " Generalized atonic seizure\n", + " definition of HP:0032887 (Generalized atonic seizure)\n", + " \n", + " \n", + " Generalized atonic seizure is a type of generalized motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1-2 s, involving head, trunk, jaw, or limb musculature.\n", + " definition of HP:0032887 (Generalized atonic seizure)\n", + " \n", + " \n", + " #Generalised atonic seizure\n", + " definition of HP:0032887 (Generalized atonic seizure)\n", + " \n", + " \n", + " Increased circulating ACTH level\n", + " definition of HP:0003154 (Increased circulating ACTH level)\n", + " \n", + " \n", + " An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood.\n", + " definition of HP:0003154 (Increased circulating ACTH level)\n", + " \n", + " \n", + " #High blood corticotropin levels #Increased circulating ACTH level #Increased plasma ACTH\n", + " definition of HP:0003154 (Increased circulating ACTH level)\n", + " \n", + " \n", + " Increased CSF citrulline concentration\n", + " definition of HP:0500246 (Increased CSF citrulline concentration)\n", + " \n", + " \n", + " Abnormally increased levels of citrulline in cerebrospinal fluid.\n", + " definition of HP:0500246 (Increased CSF citrulline concentration)\n", + " \n", + " \n", + " #High citrulline levels in cerebrospinal fluid\n", + " definition of HP:0500246 (Increased CSF citrulline concentration)\n", + " \n", + " \n", + " Partial duplication of the distal phalanx of the hallux\n", + " definition of HP:0010097 (Partial duplication of the distal phalanx of the hallux)\n", + " \n", + " \n", + " #Bifid distal phalanx of hallux #Notched outermost bone of big toe #Partial duplication of the outermost bone of big toe\n", + " definition of HP:0010097 (Partial duplication of the distal phalanx of the hallux)\n", + " \n", + " \n", + " Bone marrow edema\n", + " definition of HP:6000917 (Bone marrow edema)\n", + " \n", + " \n", + " Accumulation of excess fluid in the bone marrow.\n", + " definition of HP:6000917 (Bone marrow edema)\n", + " \n", + " \n", + " Pulmonary artery intimal thickening\n", + " definition of HP:0033421 (Pulmonary artery intimal thickening)\n", + " \n", + " \n", + " Increased thickness of the intimal layer of the pulmonary artery. Throughout the pulmonary arterial tree, the thin intima consists of a non-fenestrated monolayer of endothelial cells lining the vessel lumen, as well as a sub-endothelial interstitium that extends to the internal elastic lamina. Intimal thickness in human lung ranges from 1-16% of total wall thickness. Pulmonary artery intimal thickening can be defined as a relative intima thickness to the thickness of the vessel wall of over 10%.\n", + " definition of HP:0033421 (Pulmonary artery intimal thickening)\n", + " \n", + " \n", + " Pseudoepiphysis of the proximal phalanx of the 3rd finger\n", + " definition of HP:0009353 (Pseudoepiphysis of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " A secondary ossification center in the proximal phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.\n", + " definition of HP:0009353 (Pseudoepiphysis of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Abnormal posterior cranial fossa morphology\n", + " definition of HP:0000932 (Abnormal posterior cranial fossa morphology)\n", + " \n", + " \n", + " An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum.\n", + " definition of HP:0000932 (Abnormal posterior cranial fossa morphology)\n", + " \n", + " \n", + " #Abnormality of the posterior cranial fossa #Abnormality of the posterior fossa #Posterior fossa anomaly\n", + " definition of HP:0000932 (Abnormal posterior cranial fossa morphology)\n", + " \n", + " \n", + " Abnormal mitochondrial number\n", + " definition of HP:0012102 (Abnormal mitochondrial number)\n", + " \n", + " \n", + " A deviation from the normal number of mitochondria per cell.\n", + " definition of HP:0012102 (Abnormal mitochondrial number)\n", + " \n", + " \n", + " Abnormality of the phalanges of the 4th toe\n", + " definition of HP:0010336 (Abnormality of the phalanges of the 4th toe)\n", + " \n", + " \n", + " Reticulated skin pigmentation\n", + " definition of HP:0007427 (Reticulated skin pigmentation)\n", + " \n", + " \n", + " Aplastic/hypoplastic toenail\n", + " definition of HP:0010624 (Aplastic/hypoplastic toenail)\n", + " \n", + " \n", + " Absence or underdevelopment of the toenail.\n", + " definition of HP:0010624 (Aplastic/hypoplastic toenail)\n", + " \n", + " \n", + " #Absent/small toenails #Absent/underdeveloped toenails #Aplastic/hypoplastic toenails #Hypoplastic-absent toenails\n", + " definition of HP:0010624 (Aplastic/hypoplastic toenail)\n", + " \n", + " \n", + " Osteopathia striata\n", + " definition of HP:0010740 (Osteopathia striata)\n", + " \n", + " \n", + " A lamellar pattern visible on radiographs and mainly localized at the metaphyses of the long tubular bones. Pathologic-anatomical studies revealed that these benign signs on x-rays are the result of a juvenile metaphyseal bone necrosis. Calcifications in the necrotic marrow lead to this lamellar or lattice-like appearance.\n", + " definition of HP:0010740 (Osteopathia striata)\n", + " \n", + " \n", + " Recurrent bronchopulmonary infections\n", + " definition of HP:0006538 (Recurrent bronchopulmonary infections)\n", + " \n", + " \n", + " An increased susceptibility to bronchopulmonary infections as manifested by a history of recurrent bronchopulmonary infections.\n", + " definition of HP:0006538 (Recurrent bronchopulmonary infections)\n", + " \n", + " \n", + " Kinesiophobia\n", + " definition of HP:4000009 (Kinesiophobia)\n", + " \n", + " \n", + " An excessive, irrational, and debilitating fear of carrying out a physical movement due to a feeling of vulnerability to painful injury or reinjury.\n", + " definition of HP:4000009 (Kinesiophobia)\n", + " \n", + " \n", + " Anti-lamin A antibody positivity\n", + " definition of HP:6000643 (Anti-lamin A antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against lamin A.\n", + " definition of HP:6000643 (Anti-lamin A antibody positivity)\n", + " \n", + " \n", + " #ki-67 antibody positivity #LMNA antibody positivity #PCNA antibody positivity #Prelamin A antibody positivity\n", + " definition of HP:6000643 (Anti-lamin A antibody positivity)\n", + " \n", + " \n", + " Pyriform aperture stenosis\n", + " definition of HP:0025011 (Pyriform aperture stenosis)\n", + " \n", + " \n", + " Narrowing of the anterior nasal aperture (piriform or pyriform aperture), which is a pear-shaped opening in the skull that forms the bony inlet of the nose.\n", + " definition of HP:0025011 (Pyriform aperture stenosis)\n", + " \n", + " \n", + " Abnormal B cell proliferation\n", + " definition of HP:0031380 (Abnormal B cell proliferation)\n", + " \n", + " \n", + " Any abnormality in the multiplication or reproduction of B cells, which results in the expansion of a cell population.\n", + " definition of HP:0031380 (Abnormal B cell proliferation)\n", + " \n", + " \n", + " Focal neonatal sequential seizure\n", + " definition of HP:0032826 (Focal neonatal sequential seizure)\n", + " \n", + " \n", + " Focal neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic focal signs, often changing lateralization within or between seizures.\n", + " definition of HP:0032826 (Focal neonatal sequential seizure)\n", + " \n", + " \n", + " Congenital neuroblastoma\n", + " definition of HP:0006742 (Congenital neuroblastoma)\n", + " \n", + " \n", + " Serinuria\n", + " definition of HP:0032349 (Serinuria)\n", + " \n", + " \n", + " A increased concentration of serine in the urine.\n", + " definition of HP:0032349 (Serinuria)\n", + " \n", + " \n", + " Saddle-back type ST segment elevation\n", + " definition of HP:6000985 (Saddle-back type ST segment elevation)\n", + " \n", + " \n", + " An ST-segment elevation of at least 0.5 mm (generally at least 2 mm in V2) in at least one right precordial lead (V1 to V3), followed by a convex ST. The r'-wave may or may not overlap the J point, but it has a slow downward slope. The ST segment is followed by a positive T-wave in V2 and is of variable morphology in V1.\n", + " definition of HP:6000985 (Saddle-back type ST segment elevation)\n", + " \n", + " \n", + " Sclerosis of middle toe phalanx\n", + " definition of HP:0100947 (Sclerosis of middle toe phalanx)\n", + " \n", + " \n", + " An elevation in bone density in one or more middle phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity.\n", + " definition of HP:0100947 (Sclerosis of middle toe phalanx)\n", + " \n", + " \n", + " #Increased bone density in middle toe bone #Sclerosis of the middle phalanges of the toes\n", + " definition of HP:0100947 (Sclerosis of middle toe phalanx)\n", + " \n", + " \n", + " Cutis gyrata of scalp\n", + " definition of HP:0010541 (Cutis gyrata of scalp)\n", + " \n", + " \n", + " The presence of convoluted folds and furrows formed from thickened skin of the scalp, resembling cerebriform pattern. The scalp has convoluted and elevated folds, 1 to 2 cm in thickness. The convolutions generally cannot be flattened by traction.\n", + " definition of HP:0010541 (Cutis gyrata of scalp)\n", + " \n", + " \n", + " #Cutis verticis gyrata #Furrows in thickened skin on top of scalp #Scalp rugae #Thickened folds on top of scalp\n", + " definition of HP:0010541 (Cutis gyrata of scalp)\n", + " \n", + " \n", + " Cerebellar Purkinje layer atrophy\n", + " definition of HP:0012082 (Cerebellar Purkinje layer atrophy)\n", + " \n", + " \n", + " Atrophy of the cerebellum affecting primarily the Purkinje cell layer.\n", + " definition of HP:0012082 (Cerebellar Purkinje layer atrophy)\n", + " \n", + " \n", + " Poor suck\n", + " definition of HP:0002033 (Poor suck)\n", + " \n", + " \n", + " An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed.\n", + " definition of HP:0002033 (Poor suck)\n", + " \n", + " \n", + " #Poor suck #Poor sucking #Sucking weakness\n", + " definition of HP:0002033 (Poor suck)\n", + " \n", + " \n", + " Cone-shaped epiphysis of the middle phalanx of the 5th finger\n", + " definition of HP:0009205 (Cone-shaped epiphysis of the middle phalanx of the 5th finger)\n", + " \n", + " \n", + " A cone-shaped appearance of the epiphysis of the middle phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.\n", + " definition of HP:0009205 (Cone-shaped epiphysis of the middle phalanx of the 5th finger)\n", + " \n", + " \n", + " #Cone-shaped end part of the middle bone of the little finger #Cone-shaped end part of the middle bone of the pinkie finger #Cone-shaped end part of the middle bone of the pinky finger\n", + " definition of HP:0009205 (Cone-shaped epiphysis of the middle phalanx of the 5th finger)\n", + " \n", + " \n", + " Infectious encephalitis\n", + " definition of HP:0002383 (Infectious encephalitis)\n", + " \n", + " \n", + " A disorder of the brain caused by an infectious agent that presents with fever, headache, and an altered level of consciousness. There may also be focal or multifocal neurologic deficits, and focal or generalized seizure activity.\n", + " definition of HP:0002383 (Infectious encephalitis)\n", + " \n", + " \n", + " #Brain inflammation\n", + " definition of HP:0002383 (Infectious encephalitis)\n", + " \n", + " \n", + " Action tremor\n", + " definition of HP:0002345 (Action tremor)\n", + " \n", + " \n", + " A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement.\n", + " definition of HP:0002345 (Action tremor)\n", + " \n", + " \n", + " Cochlear aplasia\n", + " definition of HP:0011375 (Cochlear aplasia)\n", + " \n", + " \n", + " Absence of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect.\n", + " definition of HP:0011375 (Cochlear aplasia)\n", + " \n", + " \n", + " #Absent cochlea\n", + " definition of HP:0011375 (Cochlear aplasia)\n", + " \n", + " \n", + " Hyperphalangy of the 4th finger\n", + " definition of HP:6000865 (Hyperphalangy of the 4th finger)\n", + " \n", + " \n", + " An accessory phalanx of the fourth (ring) finger that is arranged linearly with the other phalanges. Hyperphalangy results from an accessory ossification center at the metacarpophalangeal joint.\n", + " definition of HP:6000865 (Hyperphalangy of the 4th finger)\n", + " \n", + " \n", + " #Hyperphalangy of fourth finger\n", + " definition of HP:6000865 (Hyperphalangy of the 4th finger)\n", + " \n", + " \n", + " Hump-shaped mound of bone in central and posterior portions of vertebral endplate\n", + " definition of HP:0004594 (Hump-shaped mound of bone in central and posterior portions of vertebral endplate)\n", + " \n", + " \n", + " Increased libido\n", + " definition of HP:0046503 (Increased libido)\n", + " \n", + " \n", + " Elevated sexual desire.\n", + " definition of HP:0046503 (Increased libido)\n", + " \n", + " \n", + " Synchronous skin lesions\n", + " definition of HP:6000529 (Synchronous skin lesions)\n", + " \n", + " \n", + " Applies to an abnormality of the skin in which multiple lesions occur at the same time.\n", + " definition of HP:6000529 (Synchronous skin lesions)\n", + " \n", + " \n", + " Ocular flutter\n", + " definition of HP:0031931 (Ocular flutter)\n", + " \n", + " \n", + " Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behavior and its occurrence may be favored by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation.\n", + " definition of HP:0031931 (Ocular flutter)\n", + " \n", + " \n", + " Sub-RPE deposits\n", + " definition of HP:0031531 (Sub-RPE deposits)\n", + " \n", + " \n", + " Deposits accumulating between the retinal pigment epithelium and Bruch's membrane.\n", + " definition of HP:0031531 (Sub-RPE deposits)\n", + " \n", + " \n", + " Crus of helix connected to antihelix\n", + " definition of HP:0011256 (Crus of helix connected to antihelix)\n", + " \n", + " \n", + " Extension of the ridge of the crus helix across the ear and connection of the crus to the antihelix.\n", + " definition of HP:0011256 (Crus of helix connected to antihelix)\n", + " \n", + " \n", + " #Helix, crus, connected to antihelix\n", + " definition of HP:0011256 (Crus of helix connected to antihelix)\n", + " \n", + " \n", + " Strawberry tongue\n", + " definition of HP:0031042 (Strawberry tongue)\n", + " \n", + " \n", + " Inflamed tongue with hyperplastic (enlarged) fungiform papillae that is said to resemble a strawberry or raspberry.\n", + " definition of HP:0031042 (Strawberry tongue)\n", + " \n", + " \n", + " #Raspberry tongue\n", + " definition of HP:0031042 (Strawberry tongue)\n", + " \n", + " \n", + " Decreased circulating plasmalogen concentration\n", + " definition of HP:4000165 (Decreased circulating plasmalogen concentration)\n", + " \n", + " \n", + " Reduced plasmalogen concentration in the blood circulation.\n", + " definition of HP:4000165 (Decreased circulating plasmalogen concentration)\n", + " \n", + " \n", + " #Reduced circulating plasmalogen concentration\n", + " definition of HP:4000165 (Decreased circulating plasmalogen concentration)\n", + " \n", + " \n", + " Chondroblastoma\n", + " definition of HP:0030432 (Chondroblastoma)\n", + " \n", + " \n", + " A usually benign tumor composed of cells which arise from chondroblasts or their precursors and which tend to differentiate into cartilage cells.\n", + " definition of HP:0030432 (Chondroblastoma)\n", + " \n", + " \n", + " Umbilical hernia\n", + " definition of HP:0001537 (Umbilical hernia)\n", + " \n", + " \n", + " Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.\n", + " definition of HP:0001537 (Umbilical hernia)\n", + " \n", + " \n", + " #Umbilical hernias\n", + " definition of HP:0001537 (Umbilical hernia)\n", + " \n", + " \n", + " Excessive hand washing\n", + " definition of HP:5200051 (Excessive hand washing)\n", + " \n", + " \n", + " Hand washing behavior that is excessive for the situational context.\n", + " definition of HP:5200051 (Excessive hand washing)\n", + " \n", + " \n", + " Ankle swelling\n", + " definition of HP:0001785 (Ankle swelling)\n", + " \n", + " \n", + " #Ankle swelling\n", + " definition of HP:0001785 (Ankle swelling)\n", + " \n", + " \n", + " Cardiomegaly\n", + " definition of HP:0001640 (Cardiomegaly)\n", + " \n", + " \n", + " Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography.\n", + " definition of HP:0001640 (Cardiomegaly)\n", + " \n", + " \n", + " #Enlarged heart #Increased heart size\n", + " definition of HP:0001640 (Cardiomegaly)\n", + " \n", + " \n", + " Periorbital purpura\n", + " definition of HP:0025552 (Periorbital purpura)\n", + " \n", + " \n", + " Multiple red/purple spots on the skin that surrounds the eyes that do not blanch (whiten) upon pressure. Purpura is caused by subcutaneous bleeding.\n", + " definition of HP:0025552 (Periorbital purpura)\n", + " \n", + " \n", + " Hemangioma of the lip\n", + " definition of HP:0031490 (Hemangioma of the lip)\n", + " \n", + " \n", + " A vascular malformation located in the lip that is related to vascular endothelial cell hyperplasia.\n", + " definition of HP:0031490 (Hemangioma of the lip)\n", + " \n", + " \n", + " Abnormal macrophage count\n", + " definition of HP:0030326 (Abnormal macrophage count)\n", + " \n", + " \n", + " An anomaly in the number of macrophages.\n", + " definition of HP:0030326 (Abnormal macrophage count)\n", + " \n", + " \n", + " Recurrent mycobacterial infections\n", + " definition of HP:0011274 (Recurrent mycobacterial infections)\n", + " \n", + " \n", + " Increased susceptibility to mycobacterial infections, as manifested by recurrent episodes of mycobacterial infection.\n", + " definition of HP:0011274 (Recurrent mycobacterial infections)\n", + " \n", + " \n", + " Anti-ARHGAP26 antibody\n", + " definition of HP:5000003 (Anti-ARHGAP26 antibody)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Rho GTPase-activating protein 26 (ARHGAP26).\n", + " definition of HP:5000003 (Anti-ARHGAP26 antibody)\n", + " \n", + " \n", + " #Anti-Ca antibody #Anti-RhoGTPase-activating protein 26 antibody\n", + " definition of HP:5000003 (Anti-ARHGAP26 antibody)\n", + " \n", + " \n", + " Platelet-activating factor acetylhydrolase deficiency\n", + " definition of HP:0040175 (Platelet-activating factor acetylhydrolase deficiency)\n", + " \n", + " \n", + " Reduced level of platelet-activating factor acetylhydrolase.\n", + " definition of HP:0040175 (Platelet-activating factor acetylhydrolase deficiency)\n", + " \n", + " \n", + " Electronegative electroretinogram\n", + " definition of HP:0007984 (Electronegative electroretinogram)\n", + " \n", + " \n", + " A dark-adapted bright flash electroretinogram in which the b-wave that is of markedly lower amplitude than the associated a-wave (source: Holder GE., Inherited Chorioretinal Dystrophies: A Textbook and Atlas; 2014; p.17; ISBN 978-3-540-69466-3).\n", + " definition of HP:0007984 (Electronegative electroretinogram)\n", + " \n", + " \n", + " #Electronegative ERG #Electroretinogram: reduced b-wave amplitude #Reduced amplitude of dark-adapted bright flash electroretinogram b-wave #Reduced electroretinogram rod b-wave #Reduced ERG amplitude of b-wave\n", + " definition of HP:0007984 (Electronegative electroretinogram)\n", + " \n", + " \n", + " Carotid artery dissection\n", + " definition of HP:0012158 (Carotid artery dissection)\n", + " \n", + " \n", + " A separation (dissection) of the layers of the carotid artery wall.\n", + " definition of HP:0012158 (Carotid artery dissection)\n", + " \n", + " \n", + " Superior oblique muscle weakness\n", + " definition of HP:0025592 (Superior oblique muscle weakness)\n", + " \n", + " \n", + " Decreased strength of the superior oblique muscle.\n", + " definition of HP:0025592 (Superior oblique muscle weakness)\n", + " \n", + " \n", + " #Superior oblique palsy\n", + " definition of HP:0025592 (Superior oblique muscle weakness)\n", + " \n", + " \n", + " Abnormality of the palpebral fissures\n", + " definition of HP:0008050 (Abnormality of the palpebral fissures)\n", + " \n", + " \n", + " An anomaly of the space between the medial and lateral canthi of the two open eyelids.\n", + " definition of HP:0008050 (Abnormality of the palpebral fissures)\n", + " \n", + " \n", + " #Abnormality of the opening between the eyelids #Abnormality of the palpebral fissures\n", + " definition of HP:0008050 (Abnormality of the palpebral fissures)\n", + " \n", + " \n", + " Nesidioblastosis\n", + " definition of HP:0034346 (Nesidioblastosis)\n", + " \n", + " \n", + " An abnormality of pancreatic beta cells characterized by a proliferation of abnormal beta cells throughout the entire pancreas, with enlarged islet size and number (hypertrophic islets), increased periductular islets, enlarged beta-cell nuclei and abundant clear cytoplasm. Occasionally beta cells with pleomorphic nuclei, ductuloinsular complexes, and neoformation of islets from ducts are observed.\n", + " definition of HP:0034346 (Nesidioblastosis)\n", + " \n", + " \n", + " Abnormal large intestine physiology\n", + " definition of HP:0012700 (Abnormal large intestine physiology)\n", + " \n", + " \n", + " A functional anomaly of the large intestine.\n", + " definition of HP:0012700 (Abnormal large intestine physiology)\n", + " \n", + " \n", + " Pseudoautosomal inheritance\n", + " definition of HP:0034339 (Pseudoautosomal inheritance)\n", + " \n", + " \n", + " A pattern of inheritance observed for alleles in the X-Y identical regions is referred to as pseudoautosomal inheritance, because it resembles the pattern seen for alleles located on autosomes.\n", + " definition of HP:0034339 (Pseudoautosomal inheritance)\n", + " \n", + " \n", + " #Pseudoautosomal region inheritance\n", + " definition of HP:0034339 (Pseudoautosomal inheritance)\n", + " \n", + " \n", + " Elevated circulating beta-glucuronidase activity\n", + " definition of HP:6000819 (Elevated circulating beta-glucuronidase activity)\n", + " \n", + " \n", + " The activity of beta-glucuronidase (EC 3.2.1.31) in the blood circulation is above the upper limit of normal.\n", + " definition of HP:6000819 (Elevated circulating beta-glucuronidase activity)\n", + " \n", + " \n", + " Opacified paranasal sinuses\n", + " definition of HP:0034494 (Opacified paranasal sinuses)\n", + " \n", + " \n", + " White appearance (radio-opaqueness) of a paranasal sinus on radiography.\n", + " definition of HP:0034494 (Opacified paranasal sinuses)\n", + " \n", + " \n", + " #Paranasal sinuses opacification #Paranasal sinuses opacified\n", + " definition of HP:0034494 (Opacified paranasal sinuses)\n", + " \n", + " \n", + " Prominent occiput\n", + " definition of HP:0000269 (Prominent occiput)\n", + " \n", + " \n", + " Increased convexity of the occiput (posterior part of the skull).\n", + " definition of HP:0000269 (Prominent occiput)\n", + " \n", + " \n", + " #Prominent back of the skull #Prominent posterior cranium #Prominent posterior skull #Protruding occiput\n", + " definition of HP:0000269 (Prominent occiput)\n", + " \n", + " \n", + " Arcuate artery lumen cholesterol emboli\n", + " definition of HP:0033897 (Arcuate artery lumen cholesterol emboli)\n", + " \n", + " \n", + " Needle-like or slit-like clefts within the interior space of arcuate arteries of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.\n", + " definition of HP:0033897 (Arcuate artery lumen cholesterol emboli)\n", + " \n", + " \n", + " #Cholesterol emboli within arcuate arterial lumen\n", + " definition of HP:0033897 (Arcuate artery lumen cholesterol emboli)\n", + " \n", + " \n", + " Abnormal levator palpebrae superioris morphology\n", + " definition of HP:3000072 (Abnormal levator palpebrae superioris morphology)\n", + " \n", + " \n", + " An abnormality of a levator palpebrae superioris.\n", + " definition of HP:3000072 (Abnormal levator palpebrae superioris morphology)\n", + " \n", + " \n", + " Focal non-convulsive status epilepticus without impairment of consciousness\n", + " definition of HP:0032869 (Focal non-convulsive status epilepticus without impairment of consciousness)\n", + " \n", + " \n", + " Focal non-convulsive status epilepticus without impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness remains intact.\n", + " definition of HP:0032869 (Focal non-convulsive status epilepticus without impairment of consciousness)\n", + " \n", + " \n", + " #Aura continua #Focal non-convulsive status epilepticus with retained awareness #Focal non-convulsive status epilepticus without impairment of awareness\n", + " definition of HP:0032869 (Focal non-convulsive status epilepticus without impairment of consciousness)\n", + " \n", + " \n", + " Moderate to late preterm birth\n", + " definition of HP:0025664 (Moderate to late preterm birth)\n", + " \n", + " \n", + " Birth at 32 to 36 completed weeks of gestation.\n", + " definition of HP:0025664 (Moderate to late preterm birth)\n", + " \n", + " \n", + " Contracture of the metacarpophalangeal joint of the 3rd finger\n", + " definition of HP:0009470 (Contracture of the metacarpophalangeal joint of the 3rd finger)\n", + " \n", + " \n", + " Chronic loss of joint motion of the metacarpophalangeal joint of the 3rd finger due to structural changes in non-bony tissue.\n", + " definition of HP:0009470 (Contracture of the metacarpophalangeal joint of the 3rd finger)\n", + " \n", + " \n", + " Diffusely thickened glomerular basement membrane\n", + " definition of HP:0033284 (Diffusely thickened glomerular basement membrane)\n", + " \n", + " \n", + " Prominent glomerular basement membrane (GBM) reflecting an diffuse and relatively uniform increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals.\n", + " definition of HP:0033284 (Diffusely thickened glomerular basement membrane)\n", + " \n", + " \n", + " Abnormal circulating plasminogen activator inhibitor 1 activity\n", + " definition of HP:0430126 (Abnormal circulating plasminogen activator inhibitor 1 activity)\n", + " \n", + " \n", + " The activity or concentration of plasminogen activator inhibitor-1 in the blood circulation is outside of the limits of the normal range.\n", + " definition of HP:0430126 (Abnormal circulating plasminogen activator inhibitor 1 activity)\n", + " \n", + " \n", + " Rectal polyposis\n", + " definition of HP:0100896 (Rectal polyposis)\n", + " \n", + " \n", + " The presence of multiple rectal hyperplastic/adenomatous polyps.\n", + " definition of HP:0100896 (Rectal polyposis)\n", + " \n", + " \n", + " #Multiple rectal polyps #Rectal polyps\n", + " definition of HP:0100896 (Rectal polyposis)\n", + " \n", + " \n", + " 1-4 toe syndactyly\n", + " definition of HP:0010712 (1-4 toe syndactyly)\n", + " \n", + " \n", + " Syndactyly with fusion of toes one to four.\n", + " definition of HP:0010712 (1-4 toe syndactyly)\n", + " \n", + " \n", + " #Webbed first through fourth toes\n", + " definition of HP:0010712 (1-4 toe syndactyly)\n", + " \n", + " \n", + " Constriction of peripheral visual field\n", + " definition of HP:0001133 (Constriction of peripheral visual field)\n", + " \n", + " \n", + " An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye.\n", + " definition of HP:0001133 (Constriction of peripheral visual field)\n", + " \n", + " \n", + " #Concentric narrowing of visual field #Constricted visual field #Constricted visual fields #Limited peripheral vision #Reduced peripheral vision #Visual field constriction\n", + " definition of HP:0001133 (Constriction of peripheral visual field)\n", + " \n", + " \n", + " Neurodevelopmental abnormality\n", + " definition of HP:0012759 (Neurodevelopmental abnormality)\n", + " \n", + " \n", + " A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities.\n", + " definition of HP:0012759 (Neurodevelopmental abnormality)\n", + " \n", + " \n", + " Decreased phytanic acid:pristanic acid ratio\n", + " definition of HP:0034450 (Decreased phytanic acid:pristanic acid ratio)\n", + " \n", + " \n", + " A reduction below the normal ratio of blood phytanic acid concentration to pristanic acid concentration.\n", + " definition of HP:0034450 (Decreased phytanic acid:pristanic acid ratio)\n", + " \n", + " \n", + " #Phytanic acid to pristanic acid ratio low\n", + " definition of HP:0034450 (Decreased phytanic acid:pristanic acid ratio)\n", + " \n", + " \n", + " Oligosacchariduria\n", + " definition of HP:0010471 (Oligosacchariduria)\n", + " \n", + " \n", + " Increased urinary excretion of oligosaccharides (low molecular weight carbohydrate chains composed of at least three monosaccharide subunits), derived from a partial degradation of glycoproteins.\n", + " definition of HP:0010471 (Oligosacchariduria)\n", + " \n", + " \n", + " Stiff neck\n", + " definition of HP:0025258 (Stiff neck)\n", + " \n", + " \n", + " A sensation of tightness in the neck when attempting to move it, especially after a period of inactivity. Neck stiffness often involves soreness and difficulty moving the neck, especially when trying to turn the head to the side.\n", + " definition of HP:0025258 (Stiff neck)\n", + " \n", + " \n", + " #Neck stiffness #Stiff neck\n", + " definition of HP:0025258 (Stiff neck)\n", + " \n", + " \n", + " Increased urinary polyhexose\n", + " definition of HP:0410345 (Increased urinary polyhexose)\n", + " \n", + " \n", + " An abnormal increase in the concentration of polyhexose in the urine.\n", + " definition of HP:0410345 (Increased urinary polyhexose)\n", + " \n", + " \n", + " #Increased polyhexose concentration in urine\n", + " definition of HP:0410345 (Increased urinary polyhexose)\n", + " \n", + " \n", + " Disturbance during transitions between sleep and wake states\n", + " definition of HP:5200293 (Disturbance during transitions between sleep and wake states)\n", + " \n", + " \n", + " A group of parasomnias that occur during the transition from wakefulness to sleep or from one sleep stage to another. Rhythmic Movement Disorder, Sleep Starts, Sleep Talking, and Nocturnal Leg Cramps - these four disorders belong to Sleep-Wake Transition Disorders in the International Classification of Sleep Disorders.\n", + " definition of HP:5200293 (Disturbance during transitions between sleep and wake states)\n", + " \n", + " \n", + " #Sleep state switching #Sleep-wake transition disorders\n", + " definition of HP:5200293 (Disturbance during transitions between sleep and wake states)\n", + " \n", + " \n", + " Pancreatic islet beta cell iron deposition\n", + " definition of HP:6000077 (Pancreatic islet beta cell iron deposition)\n", + " \n", + " \n", + " Accumulation of abnormally high amounts of iron in beta cells of the pancreas.\n", + " definition of HP:6000077 (Pancreatic islet beta cell iron deposition)\n", + " \n", + " \n", + " Small epiphyses of the 5th finger\n", + " definition of HP:0009390 (Small epiphyses of the 5th finger)\n", + " \n", + " \n", + " Abnormally small size of the epiphyses of the 5th finger with respect to age-dependent norms.\n", + " definition of HP:0009390 (Small epiphyses of the 5th finger)\n", + " \n", + " \n", + " #Small end part of little finger bone #Small end part of pinkie finger bone #Small end part of pinky finger bone\n", + " definition of HP:0009390 (Small epiphyses of the 5th finger)\n", + " \n", + " \n", + " Bracket epiphyses of the 4th finger\n", + " definition of HP:0009394 (Bracket epiphyses of the 4th finger)\n", + " \n", + " \n", + " An abnormality of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.\n", + " definition of HP:0009394 (Bracket epiphyses of the 4th finger)\n", + " \n", + " \n", + " #Bracket shaped end part of ring finger bones\n", + " definition of HP:0009394 (Bracket epiphyses of the 4th finger)\n", + " \n", + " \n", + " Partial absence of specific antibody response to hepatitis B vaccine\n", + " definition of HP:0410298 (Partial absence of specific antibody response to hepatitis B vaccine)\n", + " \n", + " \n", + " A reduced ability to synthesize postvaccination antibodies against a hepatitis B antigen, as measured by antibody titer determination following vaccination.\n", + " definition of HP:0410298 (Partial absence of specific antibody response to hepatitis B vaccine)\n", + " \n", + " \n", + " Abnormal coronary artery course\n", + " definition of HP:0011686 (Abnormal coronary artery course)\n", + " \n", + " \n", + " An abnormal path of a coronary artery.\n", + " definition of HP:0011686 (Abnormal coronary artery course)\n", + " \n", + " \n", + " Unilateral hypoplasia of pectoralis major muscle\n", + " definition of HP:0011959 (Unilateral hypoplasia of pectoralis major muscle)\n", + " \n", + " \n", + " Hypoplasia (underdevelopment) of the pectoralis minor on only one side of the chest.\n", + " definition of HP:0011959 (Unilateral hypoplasia of pectoralis major muscle)\n", + " \n", + " \n", + " #Small pec muscle on one side #Underdeveloped pec muscle on one side\n", + " definition of HP:0011959 (Unilateral hypoplasia of pectoralis major muscle)\n", + " \n", + " \n", + " Abnormal macroscopic urine appearance\n", + " definition of HP:0033072 (Abnormal macroscopic urine appearance)\n", + " \n", + " \n", + " Anomalous physical appearance (color, cloudiness, clarity) or odor of urine.\n", + " definition of HP:0033072 (Abnormal macroscopic urine appearance)\n", + " \n", + " \n", + " Circulating nucleated red blood cells\n", + " definition of HP:0033281 (Circulating nucleated red blood cells)\n", + " \n", + " \n", + " The presence of nucleated red blood cells in the peripheral blood circulation.\n", + " definition of HP:0033281 (Circulating nucleated red blood cells)\n", + " \n", + " \n", + " Cor triatrium sinister\n", + " definition of HP:0031134 (Cor triatrium sinister)\n", + " \n", + " \n", + " A developmental anomaly of the heart characterized by the presence of three atria because the left atrium is divided by an abnormal septum.\n", + " definition of HP:0031134 (Cor triatrium sinister)\n", + " \n", + " \n", + " Breast hypoplasia\n", + " definition of HP:0003187 (Breast hypoplasia)\n", + " \n", + " \n", + " Underdevelopment of the breast.\n", + " definition of HP:0003187 (Breast hypoplasia)\n", + " \n", + " \n", + " #Underdeveloped breasts\n", + " definition of HP:0003187 (Breast hypoplasia)\n", + " \n", + " \n", + " Index finger dermatoglyphic radial loop\n", + " definition of HP:0007566 (Index finger dermatoglyphic radial loop)\n", + " \n", + " \n", + " Left ventricular diastolic dysfunction\n", + " definition of HP:0025168 (Left ventricular diastolic dysfunction)\n", + " \n", + " \n", + " Abnormal function of the left ventricule during left ventricular relaxation and filling.\n", + " definition of HP:0025168 (Left ventricular diastolic dysfunction)\n", + " \n", + " \n", + " Pallor of dorsal columns of the spinal cord\n", + " definition of HP:0006825 (Pallor of dorsal columns of the spinal cord)\n", + " \n", + " \n", + " An abnormally pale appearance of the dorsal portion of the gray substance of the spinal cord. This finding can be observed by histological examination.\n", + " definition of HP:0006825 (Pallor of dorsal columns of the spinal cord)\n", + " \n", + " \n", + " Abnormality of pattern onset/offset visual evoked potentials\n", + " definition of HP:0030456 (Abnormality of pattern onset/offset visual evoked potentials)\n", + " \n", + " \n", + " #Abnormality of pattern onset/offset VEP\n", + " definition of HP:0030456 (Abnormality of pattern onset/offset visual evoked potentials)\n", + " \n", + " \n", + " Reduced anterior scleral thickness\n", + " definition of HP:0025751 (Reduced anterior scleral thickness)\n", + " \n", + " \n", + " A reduction in the height of the anterior portion of the sclera.\n", + " definition of HP:0025751 (Reduced anterior scleral thickness)\n", + " \n", + " \n", + " Frontalis muscle weakness\n", + " definition of HP:0004661 (Frontalis muscle weakness)\n", + " \n", + " \n", + " Reduced strength of the frontalis muscle (which is located on the forehead).\n", + " definition of HP:0004661 (Frontalis muscle weakness)\n", + " \n", + " \n", + " #Weak frontalis muscle #Weakness of forehead muscle\n", + " definition of HP:0004661 (Frontalis muscle weakness)\n", + " \n", + " \n", + " Abnormal perifollicular morphology\n", + " definition of HP:0031285 (Abnormal perifollicular morphology)\n", + " \n", + " \n", + " Any structural anomaly in the areas surrounding the hair follicles.\n", + " definition of HP:0031285 (Abnormal perifollicular morphology)\n", + " \n", + " \n", + " Osteolytic defects of the phalanges of the 5th toe\n", + " definition of HP:0010387 (Osteolytic defects of the phalanges of the 5th toe)\n", + " \n", + " \n", + " Arcuate vein intraluminal thrombi\n", + " definition of HP:0033877 (Arcuate vein intraluminal thrombi)\n", + " \n", + " \n", + " Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arcuate veins of the kidney.\n", + " definition of HP:0033877 (Arcuate vein intraluminal thrombi)\n", + " \n", + " \n", + " #Intraluminal thrombi within arcuate veins\n", + " definition of HP:0033877 (Arcuate vein intraluminal thrombi)\n", + " \n", + " \n", + " Vaginal atresia\n", + " definition of HP:0000148 (Vaginal atresia)\n", + " \n", + " \n", + " Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion.\n", + " definition of HP:0000148 (Vaginal atresia)\n", + " \n", + " \n", + " #Abnormally closed or absent vagina\n", + " definition of HP:0000148 (Vaginal atresia)\n", + " \n", + " \n", + " Prolonged REM sleep\n", + " definition of HP:5200361 (Prolonged REM sleep)\n", + " \n", + " \n", + " Axial hypotonia\n", + " definition of HP:0008936 (Axial hypotonia)\n", + " \n", + " \n", + " Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.\n", + " definition of HP:0008936 (Axial hypotonia)\n", + " \n", + " \n", + " #Low muscle tone in trunk #Muscular hypotonia of the trunk #Truncal hypotonia\n", + " definition of HP:0008936 (Axial hypotonia)\n", + " \n", + " \n", + " Neonatal electro-clinical sequential seizure\n", + " definition of HP:0032825 (Neonatal electro-clinical sequential seizure)\n", + " \n", + " \n", + " Neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic signs, often changing lateralization within or between seizures.\n", + " definition of HP:0032825 (Neonatal electro-clinical sequential seizure)\n", + " \n", + " \n", + " #Neonatal electroclinical sequential seizure\n", + " definition of HP:0032825 (Neonatal electro-clinical sequential seizure)\n", + " \n", + " \n", + " Flat face\n", + " definition of HP:0012368 (Flat face)\n", + " \n", + " \n", + " Absence of concavity or convexity of the face when viewed in profile.\n", + " definition of HP:0012368 (Flat face)\n", + " \n", + " \n", + " #Flat face #Flat facial profile #Flat facial shape #Flat facies\n", + " definition of HP:0012368 (Flat face)\n", + " \n", + " \n", + " Abnormal myeloid leukocyte morphology\n", + " definition of HP:0010974 (Abnormal myeloid leukocyte morphology)\n", + " \n", + " \n", + " An abnormality of myeloid leukocytes.\n", + " definition of HP:0010974 (Abnormal myeloid leukocyte morphology)\n", + " \n", + " \n", + " #Abnormality of myeloid leukocytes\n", + " definition of HP:0010974 (Abnormal myeloid leukocyte morphology)\n", + " \n", + " \n", + " Difficulty adjusting to changes in luminance\n", + " definition of HP:0030512 (Difficulty adjusting to changes in luminance)\n", + " \n", + " \n", + " Xanthoma of bone\n", + " definition of HP:0034629 (Xanthoma of bone)\n", + " \n", + " \n", + " Xanthoma of bone is an exceedingly rare benign primary bone tumor histologically characterized by mononuclear macrophage-like cells, abundant foam cells, and multinucleated giant cells.\n", + " definition of HP:0034629 (Xanthoma of bone)\n", + " \n", + " \n", + " #Bone xanthoma\n", + " definition of HP:0034629 (Xanthoma of bone)\n", + " \n", + " \n", + " Hyperostosis\n", + " definition of HP:0100774 (Hyperostosis)\n", + " \n", + " \n", + " Excessive growth or abnormal thickening of bone tissue.\n", + " definition of HP:0100774 (Hyperostosis)\n", + " \n", + " \n", + " #Bone Hypertrophy #Bone overgrowth\n", + " definition of HP:0100774 (Hyperostosis)\n", + " \n", + " \n", + " Abnormal circulating androstenedione concentration\n", + " definition of HP:0033811 (Abnormal circulating androstenedione concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of androstenedione in the blood circulation.\n", + " definition of HP:0033811 (Abnormal circulating androstenedione concentration)\n", + " \n", + " \n", + " Central core regions in muscle fibers\n", + " definition of HP:0030230 (Central core regions in muscle fibers)\n", + " \n", + " \n", + " The presence of disorganized areas called cores in the center of muscle fibers. There is a typical appearance of the biopsy on light microscopy, where the muscle cells have cores that are devoid of mitochondria and specific enzymes. Cores are typically well demarcated and centrally located, but may occasionally be multiple and of eccentric.\n", + " definition of HP:0030230 (Central core regions in muscle fibers)\n", + " \n", + " \n", + " #Central core regions in muscle fibres\n", + " definition of HP:0030230 (Central core regions in muscle fibers)\n", + " \n", + " \n", + " Agenesis of the carotid canal\n", + " definition of HP:0031604 (Agenesis of the carotid canal)\n", + " \n", + " \n", + " A developmental defect characterized by the lack of formation of the carotid canal, which normally is a circular aperture in the temporal bone of the skull through which the internal carotid artery and the carotid plexus of nerves traverse.\n", + " definition of HP:0031604 (Agenesis of the carotid canal)\n", + " \n", + " \n", + " #Bony carotid canal agenesis\n", + " definition of HP:0031604 (Agenesis of the carotid canal)\n", + " \n", + " \n", + " Supernumerary naris\n", + " definition of HP:0009934 (Supernumerary naris)\n", + " \n", + " \n", + " The presence of more than two nostrils.\n", + " definition of HP:0009934 (Supernumerary naris)\n", + " \n", + " \n", + " #Accessory nares #Accessory nostril #Extra nostril #Supernumerary nares #Supernumerary nostrils\n", + " definition of HP:0009934 (Supernumerary naris)\n", + " \n", + " \n", + " Persistent cloaca\n", + " definition of HP:0012621 (Persistent cloaca)\n", + " \n", + " \n", + " Developmental anomaly in which the vagina, bladder, and rectum fuse resulting in a common channel.\n", + " definition of HP:0012621 (Persistent cloaca)\n", + " \n", + " \n", + " #Cloacogenic bladder\n", + " definition of HP:0012621 (Persistent cloaca)\n", + " \n", + " \n", + " Abnormal intestinal smooth muscle morphology\n", + " definition of HP:0030935 (Abnormal intestinal smooth muscle morphology)\n", + " \n", + " \n", + " A structural anomaly of the nonstriated, involuntary muscle tissue of the intestine.\n", + " definition of HP:0030935 (Abnormal intestinal smooth muscle morphology)\n", + " \n", + " \n", + " #Abnormality of intestinal smooth muscle morphology\n", + " definition of HP:0030935 (Abnormal intestinal smooth muscle morphology)\n", + " \n", + " \n", + " Abnormal distribution of CD56 bright/dim natural killer cells\n", + " definition of HP:0031410 (Abnormal distribution of CD56 bright/dim natural killer cells)\n", + " \n", + " \n", + " An abnormal distribution in the number of CD56 bright NK cells, as measured by flow cytometry. CD56, an adhesion molecule mediating homotypic adhesion, is used as a functional marker for NK cells.\n", + " definition of HP:0031410 (Abnormal distribution of CD56 bright/dim natural killer cells)\n", + " \n", + " \n", + " #Abnormal distribution of CD56 bright/dim NK cells\n", + " definition of HP:0031410 (Abnormal distribution of CD56 bright/dim natural killer cells)\n", + " \n", + " \n", + " Oral-pharyngeal dysphagia\n", + " definition of HP:0200136 (Oral-pharyngeal dysphagia)\n", + " \n", + " \n", + " #Oral pharyngeal dysphagia #Oropharyngeal dysphagia\n", + " definition of HP:0200136 (Oral-pharyngeal dysphagia)\n", + " \n", + " \n", + " Tapered phalanx of finger\n", + " definition of HP:0006192 (Tapered phalanx of finger)\n", + " \n", + " \n", + " Phalanges of the fingers becoming thinner toward the distal end.\n", + " definition of HP:0006192 (Tapered phalanx of finger)\n", + " \n", + " \n", + " #Tapered finger bone\n", + " definition of HP:0006192 (Tapered phalanx of finger)\n", + " \n", + " \n", + " Macular edema\n", + " definition of HP:0040049 (Macular edema)\n", + " \n", + " \n", + " Thickening of the retina that takes place due to accumulation of fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. Macular edema is a common pathological response to a wide variety of ocular insults, most commonly after intraocular (e.g. cataract) surgery or in association with retinal vascular (e.g. diabetic eye disease, retinal vein occlusion) or inflammatory (e.g. uveitis) disease.\n", + " definition of HP:0040049 (Macular edema)\n", + " \n", + " \n", + " #Macular oedema\n", + " definition of HP:0040049 (Macular edema)\n", + " \n", + " \n", + " Coarsened hepatic echotexture\n", + " definition of HP:0031144 (Coarsened hepatic echotexture)\n", + " \n", + " \n", + " The appearance of the liver in sonographic images is normally uniform. This term applies when there is an irregular or non-uniform appearance of the liver parenchyma in liver sonography.\n", + " definition of HP:0031144 (Coarsened hepatic echotexture)\n", + " \n", + " \n", + " Left ventricular thrombus\n", + " definition of HP:0040412 (Left ventricular thrombus)\n", + " \n", + " \n", + " A blood clot (thrombus) localized in the left ventricle. Left ventricular thrombus is a serious complication of acute myocardial infarction and also of non-ischemic cardiomyopathies.\n", + " definition of HP:0040412 (Left ventricular thrombus)\n", + " \n", + " \n", + " Subcutaneous hemorrhage\n", + " definition of HP:0001933 (Subcutaneous hemorrhage)\n", + " \n", + " \n", + " This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses).\n", + " definition of HP:0001933 (Subcutaneous hemorrhage)\n", + " \n", + " \n", + " #Bleeding below the skin #Subcutaneous haemorrhage\n", + " definition of HP:0001933 (Subcutaneous hemorrhage)\n", + " \n", + " \n", + " Abnormality of pancreas physiology\n", + " definition of HP:0012091 (Abnormality of pancreas physiology)\n", + " \n", + " \n", + " An anomaly of the function of the pancreas.\n", + " definition of HP:0012091 (Abnormality of pancreas physiology)\n", + " \n", + " \n", + " Increased LH response to gonadotropin-releasing hormone stimulation test\n", + " definition of HP:0031280 (Increased LH response to gonadotropin-releasing hormone stimulation test)\n", + " \n", + " \n", + " An abnormally high amount of luteinizing hormone (LH) is released upon gonadotropin-releasing hormone stimulation test.\n", + " definition of HP:0031280 (Increased LH response to gonadotropin-releasing hormone stimulation test)\n", + " \n", + " \n", + " Tessier number 11 facial cleft\n", + " definition of HP:0031583 (Tessier number 11 facial cleft)\n", + " \n", + " \n", + " An upper medial orbital cleft produces a cleft of the medial one-third of the upper eyelid that extends through the eyebrow into the frontal hairline. The skeletal element of the cleft in the region of the frontal process of the maxilla may either pass lateral to the ethmoid, through the supraorbital rim, or it may pass through the ethmoidal labyrinth to produce orbital hypertelorism. This cleft usually accompanies the Number 3 cleft. The soft tissue features include a cleft of the medial portion of the upper eyelid, an irregularity in hair orientation at the medial end of the eyebrow, and a long tongue-like projection of the frontal hairline onto the forehead. There is a mild flattening of the frontal process of the maxilla and extensive pneumatization of both the ethmoidal and frontal sinuses, both of which are more prominent on the cleft side. No bony clefting of the supraorbital rim or frontal bone is evident. The cranial base and sphenoid architecture, including the pterygoid processes, are symmetric and normal.\n", + " definition of HP:0031583 (Tessier number 11 facial cleft)\n", + " \n", + " \n", + " Multiple small bowel atresias\n", + " definition of HP:0004797 (Multiple small bowel atresias)\n", + " \n", + " \n", + " The presence of multiple areas of atresia affecting the small intestine.\n", + " definition of HP:0004797 (Multiple small bowel atresias)\n", + " \n", + " \n", + " Zebra bodies\n", + " definition of HP:0031361 (Zebra bodies)\n", + " \n", + " \n", + " Intralysosomal, osmiophilic, lamellated and sometimes concentric cytoplasmic inclusions comprised of broad transversely-stacked myelinoid membranes and said to resemble a zebra in electron microscopic images.\n", + " definition of HP:0031361 (Zebra bodies)\n", + " \n", + " \n", + " Abnormal circulating cysteine concentration\n", + " definition of HP:0010918 (Abnormal circulating cysteine concentration)\n", + " \n", + " \n", + " An abnormality of a cysteine metabolic process.\n", + " definition of HP:0010918 (Abnormal circulating cysteine concentration)\n", + " \n", + " \n", + " Periorbital hyperpigmentation\n", + " definition of HP:0001106 (Periorbital hyperpigmentation)\n", + " \n", + " \n", + " Increased pigmentation of the skin in the region surrounding the orbit of the eye.\n", + " definition of HP:0001106 (Periorbital hyperpigmentation)\n", + " \n", + " \n", + " #Dark circles around the eyes #Dark circles under the eyes #Darkening around the eyes #Idiopathic cutaneous hyperchromia at the orbital region #Infraorbital pigmentation #Periorbital melanosis #Pigmentation around the eyes\n", + " definition of HP:0001106 (Periorbital hyperpigmentation)\n", + " \n", + " \n", + " Oligodendroglioma\n", + " definition of HP:0033681 (Oligodendroglioma)\n", + " \n", + " \n", + " Oligodendroglioma is a type of diffusely infiltrating glioma and constitutes approximately 5% of primary intracranial tumors. They often involve the cortical gray matter and are most commonly seen in the frontal lobes. OGs are generally low grade WHO grade II neoplasms that are slow-growing tumors and have a favorable treatment response when compared to other gliomas. Grade III anaplastic OG is a more malignant form of the tumor which portends a less favorable prognosis and may occur de novo or as degeneration from the lower grade OG.\n", + " definition of HP:0033681 (Oligodendroglioma)\n", + " \n", + " \n", + " Hypermanganesemia\n", + " definition of HP:0032097 (Hypermanganesemia)\n", + " \n", + " \n", + " An elevation above the normal concentration of manganese in the blood.\n", + " definition of HP:0032097 (Hypermanganesemia)\n", + " \n", + " \n", + " #Increased blood manganese concentration\n", + " definition of HP:0032097 (Hypermanganesemia)\n", + " \n", + " \n", + " Steroid-sensitive nephrotic syndrome\n", + " definition of HP:0025647 (Steroid-sensitive nephrotic syndrome)\n", + " \n", + " \n", + " A type of nephrotic syndrome in which complete remission (albumin urine dipstick negative/trace or proteinuria <4mg/m2/d or urinary protein to creatinine ratio <200mg/g (<20 mg/mmol) for 3 consecutive days) is achieved within initial 4 weeks of corticosteroid therapy.\n", + " definition of HP:0025647 (Steroid-sensitive nephrotic syndrome)\n", + " \n", + " \n", + " #SSNS\n", + " definition of HP:0025647 (Steroid-sensitive nephrotic syndrome)\n", + " \n", + " \n", + " Partial duplication of the proximal phalanx of the 4th toe\n", + " definition of HP:0100423 (Partial duplication of the proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " #Partial duplication of the innermost bone of 4th toe\n", + " definition of HP:0100423 (Partial duplication of the proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " Abnormal hypnagogia\n", + " definition of HP:5200296 (Abnormal hypnagogia)\n", + " \n", + " \n", + " Abnormal transition of consciousness from wakefulness to sleep.\n", + " definition of HP:5200296 (Abnormal hypnagogia)\n", + " \n", + " \n", + " #Abnormality falling asleep\n", + " definition of HP:5200296 (Abnormal hypnagogia)\n", + " \n", + " \n", + " Reduced muscle phosphorylase kinase activity\n", + " definition of HP:6000198 (Reduced muscle phosphorylase kinase activity)\n", + " \n", + " \n", + " Activity of the enzyme muscle phosphorylase kinase (PhK) in muscle tissue below the lower limit of normal.\n", + " definition of HP:6000198 (Reduced muscle phosphorylase kinase activity)\n", + " \n", + " \n", + " Square-wave jerks\n", + " definition of HP:0025402 (Square-wave jerks)\n", + " \n", + " \n", + " Square wave jerks are saccadic eye movements which, when recorded with open eyes are considered to be a pathological sign, caused by fixation instability, and pointing to a central neurological lesion.\n", + " definition of HP:0025402 (Square-wave jerks)\n", + " \n", + " \n", + " T-cell lymphoma\n", + " definition of HP:0012190 (T-cell lymphoma)\n", + " \n", + " \n", + " A type of lymphoma that originates in T-cells.\n", + " definition of HP:0012190 (T-cell lymphoma)\n", + " \n", + " \n", + " #T cell lymphoma\n", + " definition of HP:0012190 (T-cell lymphoma)\n", + " \n", + " \n", + " Reduced granulocyte CD59 level\n", + " definition of HP:0031555 (Reduced granulocyte CD59 level)\n", + " \n", + " \n", + " Reduced level of CD59 on the granulocyte surface as assessed by flow cytometry.\n", + " definition of HP:0031555 (Reduced granulocyte CD59 level)\n", + " \n", + " \n", + " Combined pre- and post-capillary pulmonary hypertension\n", + " definition of HP:0033636 (Combined pre- and post-capillary pulmonary hypertension)\n", + " \n", + " \n", + " Combined pre- and post-capillary pulmonary hypertension is a haemodynamic condition characterized by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary artery wedge pressure (PAWP over 15 mmHg) and pulmonary vascular resistance (PVR at least 3 Wodd units).\n", + " definition of HP:0033636 (Combined pre- and post-capillary pulmonary hypertension)\n", + " \n", + " \n", + " Absent urinary urothione\n", + " definition of HP:0003606 (Absent urinary urothione)\n", + " \n", + " \n", + " Lack of urothione (the urinary metabolite of molybdenum cofactor) in the urine.\n", + " definition of HP:0003606 (Absent urinary urothione)\n", + " \n", + " \n", + " Flexion contracture of the 4th toe\n", + " definition of HP:0010339 (Flexion contracture of the 4th toe)\n", + " \n", + " \n", + " One or more bent (flexed) joints of the fourth toe that cannot be straightened actively or passively.\n", + " definition of HP:0010339 (Flexion contracture of the 4th toe)\n", + " \n", + " \n", + " #Joint contractures of the 4th toe\n", + " definition of HP:0010339 (Flexion contracture of the 4th toe)\n", + " \n", + " \n", + " Translamellar aortic medial fibrosis\n", + " definition of HP:0032091 (Translamellar aortic medial fibrosis)\n", + " \n", + " \n", + " A type of aortic medial fibrosis in which the increase in collagen is more scar-like, altering the arrangement of the lamellar units.\n", + " definition of HP:0032091 (Translamellar aortic medial fibrosis)\n", + " \n", + " \n", + " Early chronotype\n", + " definition of HP:0031873 (Early chronotype)\n", + " \n", + " \n", + " A tendency towards rising very early in the morning and going to bed early in the evening.\n", + " definition of HP:0031873 (Early chronotype)\n", + " \n", + " \n", + " #Advanced sleep onset\n", + " definition of HP:0031873 (Early chronotype)\n", + " \n", + " \n", + " Memory impairment\n", + " definition of HP:0002354 (Memory impairment)\n", + " \n", + " \n", + " An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.\n", + " definition of HP:0002354 (Memory impairment)\n", + " \n", + " \n", + " #Forgetfulness #Memory impairment #Memory loss #Memory problems #Poor memory\n", + " definition of HP:0002354 (Memory impairment)\n", + " \n", + " \n", + " Gynecomastia\n", + " definition of HP:0000771 (Gynecomastia)\n", + " \n", + " \n", + " Abnormal development of large mammary glands in males resulting in breast enlargement.\n", + " definition of HP:0000771 (Gynecomastia)\n", + " \n", + " \n", + " #Enlarged male breast #Gynaecomastia\n", + " definition of HP:0000771 (Gynecomastia)\n", + " \n", + " \n", + " Dysgyria\n", + " definition of HP:0032398 (Dysgyria)\n", + " \n", + " \n", + " An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation.\n", + " definition of HP:0032398 (Dysgyria)\n", + " \n", + " \n", + " Pulmonary artery atresia\n", + " definition of HP:0004935 (Pulmonary artery atresia)\n", + " \n", + " \n", + " A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery.\n", + " definition of HP:0004935 (Pulmonary artery atresia)\n", + " \n", + " \n", + " #Pulmonary atresia\n", + " definition of HP:0004935 (Pulmonary artery atresia)\n", + " \n", + " \n", + " Small, conical teeth\n", + " definition of HP:0200141 (Small, conical teeth)\n", + " \n", + " \n", + " #Conical microdontia #Small, cone shaped teeth\n", + " definition of HP:0200141 (Small, conical teeth)\n", + " \n", + " \n", + " Perinephritis\n", + " definition of HP:0012784 (Perinephritis)\n", + " \n", + " \n", + " Inflammation of the connective and adipose tissues surrounding the kidney.\n", + " definition of HP:0012784 (Perinephritis)\n", + " \n", + " \n", + " Recurrent paroxysmal headache\n", + " definition of HP:0002331 (Recurrent paroxysmal headache)\n", + " \n", + " \n", + " Repeated episodes of headache with rapid onset, reaching a peak within minutes and of short duration (less than one hour) with pain that is throbbing, pulsating, or bursting in quality.\n", + " definition of HP:0002331 (Recurrent paroxysmal headache)\n", + " \n", + " \n", + " Abnormality of subcutaneous fat tissue\n", + " definition of HP:0001001 (Abnormality of subcutaneous fat tissue)\n", + " \n", + " \n", + " #Abnormality of fatty tissue below the skin\n", + " definition of HP:0001001 (Abnormality of subcutaneous fat tissue)\n", + " \n", + " \n", + " Hemidiaphragm elevation\n", + " definition of HP:6000008 (Hemidiaphragm elevation)\n", + " \n", + " \n", + " Elevated Hemidiaphragm is a condition where one portion of the diaphragm is higher than the other. Elevated hemidiaphragm occurs when one side of the diaphragm becomes weak from muscular disease or loss of innervation due to phrenic nerve injury.\n", + " definition of HP:6000008 (Hemidiaphragm elevation)\n", + " \n", + " \n", + " #Elevated hemidiaphragm\n", + " definition of HP:6000008 (Hemidiaphragm elevation)\n", + " \n", + " \n", + " Tufted hairs\n", + " definition of HP:0031283 (Tufted hairs)\n", + " \n", + " \n", + " The presence of tufts of 8-15 hairs that appear to emerge from a single follicular orifice.\n", + " definition of HP:0031283 (Tufted hairs)\n", + " \n", + " \n", + " Abnormal pupil shape\n", + " definition of HP:0025309 (Abnormal pupil shape)\n", + " \n", + " \n", + " A deviation from the normal circular shape of the pupil\n", + " definition of HP:0025309 (Abnormal pupil shape)\n", + " \n", + " \n", + " #Irregular pupil\n", + " definition of HP:0025309 (Abnormal pupil shape)\n", + " \n", + " \n", + " Abnormal CSF carnosine concentration\n", + " definition of HP:0500240 (Abnormal CSF carnosine concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of carnosine in the cerebrospinal fluid.\n", + " definition of HP:0500240 (Abnormal CSF carnosine concentration)\n", + " \n", + " \n", + " #Abnormal carnosine levels in cerebrospinal fluid\n", + " definition of HP:0500240 (Abnormal CSF carnosine concentration)\n", + " \n", + " \n", + " Arteria lusoria\n", + " definition of HP:0031014 (Arteria lusoria)\n", + " \n", + " \n", + " Usually, three large arteries arise from the arch of the aorta: the brachiocephalic trunk (divided into the right common carotid artery and the right subclavian artery), the left common carotid artery, and the left subclavian artery. However, when aberrant right subclavian artery variant is present, the brachiocephalic trunk is absent and four large arteries arise from the arch of the aorta: the right common carotid artery, the left common carotid artery, the left subclavian artery, and the final one with the most distal left sided origin, the right subclavian artery, also called the arteria lusoria.\n", + " definition of HP:0031014 (Arteria lusoria)\n", + " \n", + " \n", + " #Aberrant right subclavian artery #Lusorian artery\n", + " definition of HP:0031014 (Arteria lusoria)\n", + " \n", + " \n", + " Orbital cyst\n", + " definition of HP:0001144 (Orbital cyst)\n", + " \n", + " \n", + " Presence of a cyst in the region of the periorbital tissues. Orbital cysts can be derived from epithelial or glandular tissue within or surrounding the orbit (lacrimal glands, salivary glands, conjunctival, oral, nasal, or sinus epithelium).\n", + " definition of HP:0001144 (Orbital cyst)\n", + " \n", + " \n", + " #Cyst of eye socket #Orbital cysts\n", + " definition of HP:0001144 (Orbital cyst)\n", + " \n", + " \n", + " Increased level of 3-hydroxy-3-methylglutaric acid in urine\n", + " definition of HP:0410051 (Increased level of 3-hydroxy-3-methylglutaric acid in urine)\n", + " \n", + " \n", + " The concentration of 3-hydroxy-3-methylglutaric acid in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:0410051 (Increased level of 3-hydroxy-3-methylglutaric acid in urine)\n", + " \n", + " \n", + " Prostate mass\n", + " definition of HP:0020126 (Prostate mass)\n", + " \n", + " \n", + " A lump detected in the prostate. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction.\n", + " definition of HP:0020126 (Prostate mass)\n", + " \n", + " \n", + " Shagreen patch\n", + " definition of HP:0009721 (Shagreen patch)\n", + " \n", + " \n", + " A plaque representing a connective-tissue nevus. Connective tissue naevi are uncommon skin lesions that occur when the deeper layers of the skin do not develop correctly or the components of these layers occur in the wrong proportion. Shagreen patches are oval-shaped and nevoid, skin-colored or occasionally pigmented, smooth or crinkled. The word shagreen refers to a type of roughened untanned leather.\n", + " definition of HP:0009721 (Shagreen patch)\n", + " \n", + " \n", + " Rectus femoris muscle atrophy\n", + " definition of HP:0040191 (Rectus femoris muscle atrophy)\n", + " \n", + " \n", + " #Atrophy of the rectus femoris muscles\n", + " definition of HP:0040191 (Rectus femoris muscle atrophy)\n", + " \n", + " \n", + " Rib exostoses\n", + " definition of HP:0000896 (Rib exostoses)\n", + " \n", + " \n", + " Multiple circumscribed bony excrescences located in the ribs.\n", + " definition of HP:0000896 (Rib exostoses)\n", + " \n", + " \n", + " Neonatal electro-clinical motor seizure\n", + " definition of HP:0032813 (Neonatal electro-clinical motor seizure)\n", + " \n", + " \n", + " Neonatal electro-clinical motor seizure is a type of neonatal electro-clinical seizure with predominant motor features.\n", + " definition of HP:0032813 (Neonatal electro-clinical motor seizure)\n", + " \n", + " \n", + " Abnormal pulmonary alveolar system development\n", + " definition of HP:4000060 (Abnormal pulmonary alveolar system development)\n", + " \n", + " \n", + " Reduced urinary iodine level\n", + " definition of HP:6000438 (Reduced urinary iodine level)\n", + " \n", + " \n", + " The amount of iodine in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000438 (Reduced urinary iodine level)\n", + " \n", + " \n", + " Abnormal number of erythroid precursors\n", + " definition of HP:0012131 (Abnormal number of erythroid precursors)\n", + " \n", + " \n", + " A deviation from the normal count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.\n", + " definition of HP:0012131 (Abnormal number of erythroid precursors)\n", + " \n", + " \n", + " Reduced epidermal keratin protein expression\n", + " definition of HP:0035004 (Reduced epidermal keratin protein expression)\n", + " \n", + " \n", + " Amount of one or more keratins in the epidermis below the lower limit of normal. The findiong is typically ascertained by immunofluorescent microscopy.\n", + " definition of HP:0035004 (Reduced epidermal keratin protein expression)\n", + " \n", + " \n", + " Nonprogressive encephalopathy\n", + " definition of HP:0007030 (Nonprogressive encephalopathy)\n", + " \n", + " \n", + " Focal seizure with eyelid myoclonia\n", + " definition of HP:0011168 (Focal seizure with eyelid myoclonia)\n", + " \n", + " \n", + " Focal seizure with eyelid myoclonia, not eyelid myoclonias in the context of absence seizures.\n", + " definition of HP:0011168 (Focal seizure with eyelid myoclonia)\n", + " \n", + " \n", + " #Eyelid myoclonias\n", + " definition of HP:0011168 (Focal seizure with eyelid myoclonia)\n", + " \n", + " \n", + " Hippocampal sclerosis\n", + " definition of HP:0033715 (Hippocampal sclerosis)\n", + " \n", + " \n", + " Hippocampal sclerosis is a neuropathologic finding characterized by neuronal loss and gliosis in the CA-1 and subiculum of the hippocampus.\n", + " definition of HP:0033715 (Hippocampal sclerosis)\n", + " \n", + " \n", + " #Mesial temporal sclerosis\n", + " definition of HP:0033715 (Hippocampal sclerosis)\n", + " \n", + " \n", + " Intralobar nephrogenic rest\n", + " definition of HP:0012783 (Intralobar nephrogenic rest)\n", + " \n", + " \n", + " A type of nephrogenic rest usually representing single lesions within the renal lobe, renal sinus, or calyceal walls.\n", + " definition of HP:0012783 (Intralobar nephrogenic rest)\n", + " \n", + " \n", + " #Intralobar nephrogenic rests\n", + " definition of HP:0012783 (Intralobar nephrogenic rest)\n", + " \n", + " \n", + " Perinuclear cardiomyocyte vacuolization\n", + " definition of HP:0033997 (Perinuclear cardiomyocyte vacuolization)\n", + " \n", + " \n", + " Formation of vacuoles, i.e., membrane-bound organelles, in the portion of the cytoplasm near the nucleus within myocytes of the heart.\n", + " definition of HP:0033997 (Perinuclear cardiomyocyte vacuolization)\n", + " \n", + " \n", + " Acinetobacter infection\n", + " definition of HP:0032250 (Acinetobacter infection)\n", + " \n", + " \n", + " An infection by Acinetobacter baumannii, a Gram-negative bacillus that is aerobic, pleomorphic and non-motile. An opportunistic pathogen, A. baumannii has a high incidence among immunocompromised individuals, particularly those who have experienced a prolonged (over 90 d) hospital stay.\n", + " definition of HP:0032250 (Acinetobacter infection)\n", + " \n", + " \n", + " Fetal megacystis\n", + " definition of HP:0010956 (Fetal megacystis)\n", + " \n", + " \n", + " Fetal megacystis is an abnormally enlarged bladder identified at any gestational age.\n", + " definition of HP:0010956 (Fetal megacystis)\n", + " \n", + " \n", + " #Foetal megacystis\n", + " definition of HP:0010956 (Fetal megacystis)\n", + " \n", + " \n", + " Renal calcium wasting\n", + " definition of HP:0012637 (Renal calcium wasting)\n", + " \n", + " \n", + " High urine calcium in the presence of hypocalcemia.\n", + " definition of HP:0012637 (Renal calcium wasting)\n", + " \n", + " \n", + " #Kidney Ca wasting #Kidney Ca2+ wasting #Kidney calcium wasting #Renal Ca wasting #Renal Ca2+ wasting\n", + " definition of HP:0012637 (Renal calcium wasting)\n", + " \n", + " \n", + " Immotile sperm\n", + " definition of HP:0012208 (Immotile sperm)\n", + " \n", + " \n", + " A lack of mobility of ejaculated sperm.\n", + " definition of HP:0012208 (Immotile sperm)\n", + " \n", + " \n", + " #Nonmotile sperm\n", + " definition of HP:0012208 (Immotile sperm)\n", + " \n", + " \n", + " Muscle flaccidity\n", + " definition of HP:0010547 (Muscle flaccidity)\n", + " \n", + " \n", + " A type of paralysis in which a muscle becomes soft and yields to passive stretching, which results from loss of all or practically all peripheral motor nerves that innervated the muscle. Muscle tone is reduced and the affected muscles undergo extreme atrophy within months of the loss of innervation.\n", + " definition of HP:0010547 (Muscle flaccidity)\n", + " \n", + " \n", + " Arcuate intimal/medial venulitis\n", + " definition of HP:0033917 (Arcuate intimal/medial venulitis)\n", + " \n", + " \n", + " Inflammation of the inner or middle layer of arcuate venules. This feature may involve only the intima or it can be transmural.\n", + " definition of HP:0033917 (Arcuate intimal/medial venulitis)\n", + " \n", + " \n", + " #Medial/intimal arcuate venulitis #Venulitis within arcuate vein intima/media\n", + " definition of HP:0033917 (Arcuate intimal/medial venulitis)\n", + " \n", + " \n", + " Absent epiphyses of the 4th finger\n", + " definition of HP:0009393 (Absent epiphyses of the 4th finger)\n", + " \n", + " \n", + " Absence of one or more epiphyses of the 4th finger.\n", + " definition of HP:0009393 (Absent epiphyses of the 4th finger)\n", + " \n", + " \n", + " #Absent end part of the ring finger bone\n", + " definition of HP:0009393 (Absent epiphyses of the 4th finger)\n", + " \n", + " \n", + " Hallucinations\n", + " definition of HP:0000738 (Hallucinations)\n", + " \n", + " \n", + " Perceptions in a conscious and awake state that, in the absence of external stimuli, have qualities of real perception. These perceptions are vivid, substantial, and located in external objective space.\n", + " definition of HP:0000738 (Hallucinations)\n", + " \n", + " \n", + " #Hallucination #Hallucinations #Sensory hallucination\n", + " definition of HP:0000738 (Hallucinations)\n", + " \n", + " \n", + " Increased level of N-acetylneuraminic acid in urine\n", + " definition of HP:0410156 (Increased level of N-acetylneuraminic acid in urine)\n", + " \n", + " \n", + " An increase in the level of N-acetylneuraminic acid in the urine.\n", + " definition of HP:0410156 (Increased level of N-acetylneuraminic acid in urine)\n", + " \n", + " \n", + " #Increased level of NANA in urine #Increased level of Neu5Ac in urine\n", + " definition of HP:0410156 (Increased level of N-acetylneuraminic acid in urine)\n", + " \n", + " \n", + " Inferior mediastinal mass\n", + " definition of HP:0033826 (Inferior mediastinal mass)\n", + " \n", + " \n", + " A type of mediastinal mass that is located below the thoracic plane (a horizontal line that runs from the manubriosternal joint (sternal angle or angle of Louis) to the inferior endplate of T4).\n", + " definition of HP:0033826 (Inferior mediastinal mass)\n", + " \n", + " \n", + " Finger joint contracture\n", + " definition of HP:0034681 (Finger joint contracture)\n", + " \n", + " \n", + " Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of a finger joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.\n", + " definition of HP:0034681 (Finger joint contracture)\n", + " \n", + " \n", + " Retinal vasculitis\n", + " definition of HP:0025188 (Retinal vasculitis)\n", + " \n", + " \n", + " Inflammation of retinal blood vessels as manifested by perivascular sheathing or cuffing, vascular leakage and/or occlusion.\n", + " definition of HP:0025188 (Retinal vasculitis)\n", + " \n", + " \n", + " Esophageal mass\n", + " definition of HP:6000247 (Esophageal mass)\n", + " \n", + " \n", + " A swelling or enlargement localized to the esophagus. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.\n", + " definition of HP:6000247 (Esophageal mass)\n", + " \n", + " \n", + " Juxtaphrenic peak\n", + " definition of HP:0033656 (Juxtaphrenic peak)\n", + " \n", + " \n", + " A juxtaphrenic peak is a small triangular opacity based at the apex of the dome of a hemidiaphragm, associated with upper lobe volume loss of any cause (eg, postirradiation fibrosis or upper lobectomy). It is most readily appreciated on a frontal chest radiograph. The peak is caused by upward retraction of the inferior accessory fissure or an intrapulmonary septum associated with the pulmonary ligament.\n", + " definition of HP:0033656 (Juxtaphrenic peak)\n", + " \n", + " \n", + " Celiac disease\n", + " definition of HP:0002608 (Celiac disease)\n", + " \n", + " \n", + " Celiac disease (CD) is an autoimmune condition affecting the small intestine, triggered by the ingestion of gluten, the protein fraction of wheat, barley, and rye. Clinical manifestations of CD are highly variable and include both gastrointestinal and non-gastrointestinal features. The hallmark of CD is an immune-mediated enteropathy. This term is included because the occurrence of CD is seen as a feature of a number of other diseases.\n", + " definition of HP:0002608 (Celiac disease)\n", + " \n", + " \n", + " #Celiac disease #Celiac sprue #Coeliac disease #Coeliac sprue\n", + " definition of HP:0002608 (Celiac disease)\n", + " \n", + " \n", + " Abnormal blood 5-methyltetrahydrofolate level\n", + " definition of HP:0410216 (Abnormal blood 5-methyltetrahydrofolate level)\n", + " \n", + " \n", + " An abnormal concentration of 5-methyltetrahydrofolate in the blood.\n", + " definition of HP:0410216 (Abnormal blood 5-methyltetrahydrofolate level)\n", + " \n", + " \n", + " #Abnormal serum methylfolate Level\n", + " definition of HP:0410216 (Abnormal blood 5-methyltetrahydrofolate level)\n", + " \n", + " \n", + " Increased circulating ethanolamine concentration\n", + " definition of HP:0500250 (Increased circulating ethanolamine concentration)\n", + " \n", + " \n", + " Abnormally increased levels of ethanolamine in circulation.\n", + " definition of HP:0500250 (Increased circulating ethanolamine concentration)\n", + " \n", + " \n", + " #High ethanolamine levels in the blood\n", + " definition of HP:0500250 (Increased circulating ethanolamine concentration)\n", + " \n", + " \n", + " Patchy demyelination of subcortical white matter\n", + " definition of HP:0002545 (Patchy demyelination of subcortical white matter)\n", + " \n", + " \n", + " Patchy loss of myelin from nerve fibers in the central nervous system.\n", + " definition of HP:0002545 (Patchy demyelination of subcortical white matter)\n", + " \n", + " \n", + " Falls\n", + " definition of HP:0002527 (Falls)\n", + " \n", + " \n", + " #Falls\n", + " definition of HP:0002527 (Falls)\n", + " \n", + " \n", + " Left ventricular noncompaction cardiomyopathy\n", + " definition of HP:0011664 (Left ventricular noncompaction cardiomyopathy)\n", + " \n", + " \n", + " Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates.\n", + " definition of HP:0011664 (Left ventricular noncompaction cardiomyopathy)\n", + " \n", + " \n", + " #Left ventricular non-compaction cardiomyopathy\n", + " definition of HP:0011664 (Left ventricular noncompaction cardiomyopathy)\n", + " \n", + " \n", + " Absent pigmentation of chest\n", + " definition of HP:0040007 (Absent pigmentation of chest)\n", + " \n", + " \n", + " Lack of skin pigmentation (coloring) of the chest.\n", + " definition of HP:0040007 (Absent pigmentation of chest)\n", + " \n", + " \n", + " #Lack of skin coloring on chest #Lack of skin colouring on chest\n", + " definition of HP:0040007 (Absent pigmentation of chest)\n", + " \n", + " \n", + " Delayed fine motor development\n", + " definition of HP:0010862 (Delayed fine motor development)\n", + " \n", + " \n", + " A type of motor delay characterized by a delay in acquiring the ability to control the fingers and hands.\n", + " definition of HP:0010862 (Delayed fine motor development)\n", + " \n", + " \n", + " Left aortic arch with isolated subclavian artery\n", + " definition of HP:0011592 (Left aortic arch with isolated subclavian artery)\n", + " \n", + " \n", + " The subclavian artery arises from ductus arteriosus. While the ductus arteriosus is patent its blood supply comes from the ductus, hence from the pulmonary artery. After it closes, the blood supply is retrogradely from the vertebral artery via the circle of Willis.\n", + " definition of HP:0011592 (Left aortic arch with isolated subclavian artery)\n", + " \n", + " \n", + " Hyperglycerolemia\n", + " definition of HP:0040302 (Hyperglycerolemia)\n", + " \n", + " \n", + " Increased concentration of glycerol in the blood.\n", + " definition of HP:0040302 (Hyperglycerolemia)\n", + " \n", + " \n", + " Elevated hemoglobin A1c\n", + " definition of HP:0040217 (Elevated hemoglobin A1c)\n", + " \n", + " \n", + " An increased concentration of hemoglobin A1c (HbA1c), which is the product of nonenzymatic attachment of a hexose molecule to the N-terminal amino acid of the hemoglobin molecule. This reaction is dependent on blood glucose concentration, and therefore reflects the mean glucose concentration over the previous 8 to 12 weeks. The HbA1c level provides a better indication of long-term glycemic control than one-time blood or urinary glucose measurements.\n", + " definition of HP:0040217 (Elevated hemoglobin A1c)\n", + " \n", + " \n", + " #Elevated glycated haemoglobin #Elevated glycated hemoglobin #Elevated glycosylated haemoglobin #Elevated glycosylated hemoglobin #Elevated haemoglobin A1c #Elevated HbA1c #Increased HbA1c levels\n", + " definition of HP:0040217 (Elevated hemoglobin A1c)\n", + " \n", + " \n", + " Chin with H-shaped crease\n", + " definition of HP:0011824 (Chin with H-shaped crease)\n", + " \n", + " \n", + " H-shaped crease in the fat pad of the chin.\n", + " definition of HP:0011824 (Chin with H-shaped crease)\n", + " \n", + " \n", + " #Chin with H-shaped crease #Chin, H-Shaped Crease #Chin, H-shaped groove #H-shaped dimple of the chin\n", + " definition of HP:0011824 (Chin with H-shaped crease)\n", + " \n", + " \n", + " Positive respiratory tract SARS-CoV-2 coronavirus nucleic acid test\n", + " definition of HP:6000837 (Positive respiratory tract SARS-CoV-2 coronavirus nucleic acid test)\n", + " \n", + " \n", + " Detection of SARS-CoV-2 coronavirus nucleic acid in the sputum or pharyngeal sample by a method such as polymerase chain reaction.\n", + " definition of HP:6000837 (Positive respiratory tract SARS-CoV-2 coronavirus nucleic acid test)\n", + " \n", + " \n", + " Impaired vibratory sensation\n", + " definition of HP:0002495 (Impaired vibratory sensation)\n", + " \n", + " \n", + " A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient.\n", + " definition of HP:0002495 (Impaired vibratory sensation)\n", + " \n", + " \n", + " #Decreased vibration sense #Decreased vibratory sense #Diminished vibratory sense #Hypopallesthesia #Impaired vibratory sensation #Impaired vibratory sense\n", + " definition of HP:0002495 (Impaired vibratory sensation)\n", + " \n", + " \n", + " Abnormal thorax morphology\n", + " definition of HP:0000765 (Abnormal thorax morphology)\n", + " \n", + " \n", + " Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).\n", + " definition of HP:0000765 (Abnormal thorax morphology)\n", + " \n", + " \n", + " #Abnormality of the chest #Abnormality of the thorax #Structural abnormality of the chest wall\n", + " definition of HP:0000765 (Abnormal thorax morphology)\n", + " \n", + " \n", + " Progressive night blindness\n", + " definition of HP:0007675 (Progressive night blindness)\n", + " \n", + " \n", + " #Progressive night blindness\n", + " definition of HP:0007675 (Progressive night blindness)\n", + " \n", + " \n", + " Elevated circulating thymine concentration\n", + " definition of HP:4000095 (Elevated circulating thymine concentration)\n", + " \n", + " \n", + " Concentration of the nucleobase thymine in the blood circulation above the normal range.\n", + " definition of HP:4000095 (Elevated circulating thymine concentration)\n", + " \n", + " \n", + " Descemet Membrane Folds\n", + " definition of HP:0012039 (Descemet Membrane Folds)\n", + " \n", + " \n", + " Presence of folds in the Descemet membrane, which is the basement membrane of the endothelial (inner) cell layer of the cornea. Descemet membrane folds are generally a manifestation of inflammation or edema of the cornea.\n", + " definition of HP:0012039 (Descemet Membrane Folds)\n", + " \n", + " \n", + " Calcific stippling\n", + " definition of HP:0002832 (Calcific stippling)\n", + " \n", + " \n", + " An abnormal punctate (speckled, dot-like) pattern of calcifications in soft tissues within or surrounding bones (as observed on radiographs).\n", + " definition of HP:0002832 (Calcific stippling)\n", + " \n", + " \n", + " #Discrete calcific stippling\n", + " definition of HP:0002832 (Calcific stippling)\n", + " \n", + " \n", + " Collagenoma\n", + " definition of HP:6000022 (Collagenoma)\n", + " \n", + " \n", + " A rare hamartomatous malformation characterized by the predominant proliferation of normal collagen fibers and normal, decreased, or increased elastic fibers. Collagenomas may be solitary or multiple, sporadic, acquired or inherited.\n", + " definition of HP:6000022 (Collagenoma)\n", + " \n", + " \n", + " Bone marrow granuloma\n", + " definition of HP:6000154 (Bone marrow granuloma)\n", + " \n", + " \n", + " A granuloma (a focal aggregate of immune cells that forms in response to a persistent inflammatory stimulus) localiyed to the bone marrow. A granuloma characteristically demonstrates the compact organization of mature macrophages, which may or may not be associated with other inflammatory cell types.\n", + " definition of HP:6000154 (Bone marrow granuloma)\n", + " \n", + " \n", + " Olfactory hallucination\n", + " definition of HP:5200200 (Olfactory hallucination)\n", + " \n", + " \n", + " Perception of smell without olfactory stimulus.\n", + " definition of HP:5200200 (Olfactory hallucination)\n", + " \n", + " \n", + " #Hallucinations of smell #Smell hallucination\n", + " definition of HP:5200200 (Olfactory hallucination)\n", + " \n", + " \n", + " Abnormal peer relationships\n", + " definition of HP:5200016 (Abnormal peer relationships)\n", + " \n", + " \n", + " The state of having abnormal relationships with others. This does not describe specific aspects of one's social aptitudes but rather a state which may come about from these aptitudes, such as lacking peer relationships or lacking close friends.\n", + " definition of HP:5200016 (Abnormal peer relationships)\n", + " \n", + " \n", + " Non-caseating epithelioid cell granulomatosis\n", + " definition of HP:0012220 (Non-caseating epithelioid cell granulomatosis)\n", + " \n", + " \n", + " The presence of multiple epithelioid cell granulomas consist of highly differentiated mononuclear phagocytes (epithelioid cells and giant cells) and lymphocytes, not exhibiting caseation (a form of necrosis in which the tissue changes into a dry, amorphous mass said to resemble cheese).\n", + " definition of HP:0012220 (Non-caseating epithelioid cell granulomatosis)\n", + " \n", + " \n", + " Curved middle phalanx of the 2nd finger\n", + " definition of HP:0009571 (Curved middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " Curved appearance of the middle phalanx of the 2nd finger.\n", + " definition of HP:0009571 (Curved middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Curved middle bone of the index finger\n", + " definition of HP:0009571 (Curved middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " Respiratory tract infection\n", + " definition of HP:0011947 (Respiratory tract infection)\n", + " \n", + " \n", + " An infection of the upper or lower respiratory tract.\n", + " definition of HP:0011947 (Respiratory tract infection)\n", + " \n", + " \n", + " #Respiratory infection #Respiratory tract infection\n", + " definition of HP:0011947 (Respiratory tract infection)\n", + " \n", + " \n", + " Absent P wave\n", + " definition of HP:0033122 (Absent P wave)\n", + " \n", + " \n", + " The P wave that normally precedes each QRS complex by a fixed PR interval of 120 to 200 milliseconds is not present.\n", + " definition of HP:0033122 (Absent P wave)\n", + " \n", + " \n", + " #Absence of P wave on electrocardiography\n", + " definition of HP:0033122 (Absent P wave)\n", + " \n", + " \n", + " Small epiphyses of the toes\n", + " definition of HP:0010170 (Small epiphyses of the toes)\n", + " \n", + " \n", + " #Small end part of the toe bones\n", + " definition of HP:0010170 (Small epiphyses of the toes)\n", + " \n", + " \n", + " Addictive alcohol use\n", + " definition of HP:0030955 (Addictive alcohol use)\n", + " \n", + " \n", + " An addictive behavior is defined as drinking excessive amounts of alcohol over a prolonged period of time, having difficulty in reducing the amount of alcohol consumed, strongly desiring alcohol, and experiencing withdrawal symptoms when not drinking alcohol.\n", + " definition of HP:0030955 (Addictive alcohol use)\n", + " \n", + " \n", + " #Alcohol addiction #Alcoholism\n", + " definition of HP:0030955 (Addictive alcohol use)\n", + " \n", + " \n", + " Metastatic angiosarcoma\n", + " definition of HP:0200059 (Metastatic angiosarcoma)\n", + " \n", + " \n", + " Focal impaired awareness cognitive seizure with auditory agnosia\n", + " definition of HP:0032874 (Focal impaired awareness cognitive seizure with auditory agnosia)\n", + " \n", + " \n", + " A focal cognitive seizure with auditory agnosia characterized by impairment of awareness at some point during the seizure.\n", + " definition of HP:0032874 (Focal impaired awareness cognitive seizure with auditory agnosia)\n", + " \n", + " \n", + " Congenital conductive hearing impairment\n", + " definition of HP:0008591 (Congenital conductive hearing impairment)\n", + " \n", + " \n", + " A type of conductive deafness with congenital onset.\n", + " definition of HP:0008591 (Congenital conductive hearing impairment)\n", + " \n", + " \n", + " #Congenital conductive deafness #Congenital conductive hearing loss\n", + " definition of HP:0008591 (Congenital conductive hearing impairment)\n", + " \n", + " \n", + " Anterior chamber cells grade 0.5+\n", + " definition of HP:0025562 (Anterior chamber cells grade 0.5+)\n", + " \n", + " \n", + " Anterior chamber cells with 1-5 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.\n", + " definition of HP:0025562 (Anterior chamber cells grade 0.5+)\n", + " \n", + " \n", + " Abnormal renal morphology\n", + " definition of HP:0012210 (Abnormal renal morphology)\n", + " \n", + " \n", + " Any structural anomaly of the kidney.\n", + " definition of HP:0012210 (Abnormal renal morphology)\n", + " \n", + " \n", + " #Abnormal kidney morphology #Abnormally shaped kidney #Kidney malformation #Kidney structure issue #Renal malformation #Structural anomalies of the renal tract #Structural kidney abnormalities #Structural renal anomalies\n", + " definition of HP:0012210 (Abnormal renal morphology)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the 2nd metacarpal\n", + " definition of HP:0010036 (Aplasia/Hypoplasia of the 2nd metacarpal)\n", + " \n", + " \n", + " Aplasia or Hypoplasia affecting the 2nd metacarpal.\n", + " definition of HP:0010036 (Aplasia/Hypoplasia of the 2nd metacarpal)\n", + " \n", + " \n", + " #Absent/small 2nd long bone of hand #Absent/underdeveloped 2nd long bone of hand\n", + " definition of HP:0010036 (Aplasia/Hypoplasia of the 2nd metacarpal)\n", + " \n", + " \n", + " Atypical behavior\n", + " definition of HP:0000708 (Atypical behavior)\n", + " \n", + " \n", + " Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.\n", + " definition of HP:0000708 (Atypical behavior)\n", + " \n", + " \n", + " #Behavioral abnormality #Behavioral changes #Behavioral disorders #Behavioral disturbances #Behavioral problems #Behavioral symptoms #Behavioral/psychiatric abnormalities #Behavioural abnormality #Behavioural changes #Behavioural disorders #Behavioural disturbances #Behavioural problems #Behavioural symptoms #Behavioural/Psychiatric abnormality #Behavioural/psychiatric abnormality #Psychiatric disorders #Psychiatric disturbances\n", + " definition of HP:0000708 (Atypical behavior)\n", + " \n", + " \n", + " Sternal punctate calcifications\n", + " definition of HP:0006637 (Sternal punctate calcifications)\n", + " \n", + " \n", + " Near exotropia\n", + " definition of HP:0031715 (Near exotropia)\n", + " \n", + " \n", + " An intermittent exotropia where there is binocular single vision on distance fixation and exotropia at near (intermittent or constant).\n", + " definition of HP:0031715 (Near exotropia)\n", + " \n", + " \n", + " Enlarged epiphysis of the distal phalanx of the 5th finger\n", + " definition of HP:0009147 (Enlarged epiphysis of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms.\n", + " definition of HP:0009147 (Enlarged epiphysis of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " #Enlarged end part of the outermost bone of little finger #Enlarged end part of the outermost bone of pinkie finger #Enlarged end part of the outermost bone of pinky finger\n", + " definition of HP:0009147 (Enlarged epiphysis of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " Rhizomelic leg shortening\n", + " definition of HP:0012106 (Rhizomelic leg shortening)\n", + " \n", + " \n", + " Disproportionate shortening of the proximal segment of the leg (i.e. the femur).\n", + " definition of HP:0012106 (Rhizomelic leg shortening)\n", + " \n", + " \n", + " Abnormally large globe\n", + " definition of HP:0001090 (Abnormally large globe)\n", + " \n", + " \n", + " Diffusely large eye (with megalocornea) without glaucoma.\n", + " definition of HP:0001090 (Abnormally large globe)\n", + " \n", + " \n", + " #Increased size of eyes #Large eyes #Megalophthalmos\n", + " definition of HP:0001090 (Abnormally large globe)\n", + " \n", + " \n", + " Myelitis\n", + " definition of HP:0012486 (Myelitis)\n", + " \n", + " \n", + " Inflammation of the spinal cord.\n", + " definition of HP:0012486 (Myelitis)\n", + " \n", + " \n", + " #Inflammation of spinal cord\n", + " definition of HP:0012486 (Myelitis)\n", + " \n", + " \n", + " Lingual dystonia\n", + " definition of HP:0031008 (Lingual dystonia)\n", + " \n", + " \n", + " Involuntary protrusions, movements, spams and contortions of the tongue.\n", + " definition of HP:0031008 (Lingual dystonia)\n", + " \n", + " \n", + " #Tongue dystonia\n", + " definition of HP:0031008 (Lingual dystonia)\n", + " \n", + " \n", + " Intradural spinal lipoma\n", + " definition of HP:6000415 (Intradural spinal lipoma)\n", + " \n", + " \n", + " Intradural spinal lipoma (ISL) constitutes approximately 1% of all spinal tumors and is usually associated with lumbo-sacral spinal dysraphism. ISLs unassociated with spinal dysraphism are rare with only a few cases being reported in literature. They are seen in children and young adults and are situated on the posterior aspect of the spinal cord in the cervico-thoracic or thoracic regions. They represent intradural, subpial, juxtamedullary lesions.\n", + " definition of HP:6000415 (Intradural spinal lipoma)\n", + " \n", + " \n", + " Rhonchi\n", + " definition of HP:0030831 (Rhonchi)\n", + " \n", + " \n", + " Abnormal breath sounds characterized by low-pitched, snoring or rattle-like sounds.\n", + " definition of HP:0030831 (Rhonchi)\n", + " \n", + " \n", + " Bone-in-a-bone appearance of forearm\n", + " definition of HP:0003955 (Bone-in-a-bone appearance of forearm)\n", + " \n", + " \n", + " A descriptive term for a forearm bone that appears to have an additional bone within it on radiography.\n", + " definition of HP:0003955 (Bone-in-a-bone appearance of forearm)\n", + " \n", + " \n", + " #Bone-in-a-bone appearance of forearm\n", + " definition of HP:0003955 (Bone-in-a-bone appearance of forearm)\n", + " \n", + " \n", + " Macular thickening\n", + " definition of HP:0030498 (Macular thickening)\n", + " \n", + " \n", + " Abnormal increase in retinal thickness in the macular area observed on fundoscopy or fundus imaging.\n", + " definition of HP:0030498 (Macular thickening)\n", + " \n", + " \n", + " Atypical nevi in non-sun exposed areas\n", + " definition of HP:0001074 (Atypical nevi in non-sun exposed areas)\n", + " \n", + " \n", + " Periosteal new bone of humerus\n", + " definition of HP:0003878 (Periosteal new bone of humerus)\n", + " \n", + " \n", + " Reduced epidermal keratin 5 protein expression\n", + " definition of HP:0035002 (Reduced epidermal keratin 5 protein expression)\n", + " \n", + " \n", + " Amount of keratin 5 in the epidermis below the lower limit of normal. The findiong is typically ascertained by immunofluorescent microscopy.\n", + " definition of HP:0035002 (Reduced epidermal keratin 5 protein expression)\n", + " \n", + " \n", + " Peripheral vitreoretinal degeneration\n", + " definition of HP:0200071 (Peripheral vitreoretinal degeneration)\n", + " \n", + " \n", + " A type of vitreoretinal degeneration with manifestations that are concentrated at the periphery of the retina.\n", + " definition of HP:0200071 (Peripheral vitreoretinal degeneration)\n", + " \n", + " \n", + " Chronic kidney disease\n", + " definition of HP:0012622 (Chronic kidney disease)\n", + " \n", + " \n", + " Functional anomaly of the kidney persisting for at least three months.\n", + " definition of HP:0012622 (Chronic kidney disease)\n", + " \n", + " \n", + " #Chronic kidney disease #CKD\n", + " definition of HP:0012622 (Chronic kidney disease)\n", + " \n", + " \n", + " Positive stool infectious agent test\n", + " definition of HP:0034866 (Positive stool infectious agent test)\n", + " \n", + " \n", + " Any kind of test for an infectious agent in stool positive.\n", + " definition of HP:0034866 (Positive stool infectious agent test)\n", + " \n", + " \n", + " Decreased circulating pancreatic isoamylase activity\n", + " definition of HP:6000721 (Decreased circulating pancreatic isoamylase activity)\n", + " \n", + " \n", + " The activity of alpha-Amylase (1,4-alpha-D-glucan-4-glucanohydrolase E. C. 3.2.1.1, pancreatic isoamylase) in the blood circulation is below the lower limit of normal.\n", + " definition of HP:6000721 (Decreased circulating pancreatic isoamylase activity)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the proximal phalanx of the thumb\n", + " definition of HP:0009629 (Aplasia/Hypoplasia of the proximal phalanx of the thumb)\n", + " \n", + " \n", + " This term applies if the proximal phalanx of the thumb is either small/hypoplastic or absent. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.\n", + " definition of HP:0009629 (Aplasia/Hypoplasia of the proximal phalanx of the thumb)\n", + " \n", + " \n", + " #Absent/small innermost thumb bone #Absent/underdeveloped innermost thumb bone\n", + " definition of HP:0009629 (Aplasia/Hypoplasia of the proximal phalanx of the thumb)\n", + " \n", + " \n", + " Corner fragments of ulnar metaphysis\n", + " definition of HP:0004040 (Corner fragments of ulnar metaphysis)\n", + " \n", + " \n", + " Diplomyelia\n", + " definition of HP:0100562 (Diplomyelia)\n", + " \n", + " \n", + " Duplication of the spinal cord.\n", + " definition of HP:0100562 (Diplomyelia)\n", + " \n", + " \n", + " #Duplication of spinal cord\n", + " definition of HP:0100562 (Diplomyelia)\n", + " \n", + " \n", + " Ovarian carcinoma\n", + " definition of HP:0025318 (Ovarian carcinoma)\n", + " \n", + " \n", + " A malignant neoplasm originating from the surface ovarian epithelium.\n", + " definition of HP:0025318 (Ovarian carcinoma)\n", + " \n", + " \n", + " #Ovarian epithelial cancer\n", + " definition of HP:0025318 (Ovarian carcinoma)\n", + " \n", + " \n", + " 3-hydroxyisovaleric aciduria\n", + " definition of HP:0033111 (3-hydroxyisovaleric aciduria)\n", + " \n", + " \n", + " Concentration of 3-hydroxyisovaleric acid in the urine above the normal range.\n", + " definition of HP:0033111 (3-hydroxyisovaleric aciduria)\n", + " \n", + " \n", + " #Increased urine 3-hydroxyisovaleric acid level\n", + " definition of HP:0033111 (3-hydroxyisovaleric aciduria)\n", + " \n", + " \n", + " Hypopigmentation of the fundus\n", + " definition of HP:0007894 (Hypopigmentation of the fundus)\n", + " \n", + " \n", + " Reduced pigmentation of the fundus, typically generalized. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid).\n", + " definition of HP:0007894 (Hypopigmentation of the fundus)\n", + " \n", + " \n", + " #Decreased fundus pigmentation #Fundus hypopigmentation\n", + " definition of HP:0007894 (Hypopigmentation of the fundus)\n", + " \n", + " \n", + " Multiple glomerular cysts\n", + " definition of HP:0100611 (Multiple glomerular cysts)\n", + " \n", + " \n", + " The presence of many cysts in the glomerulus of the kidney related to dilatation of the Bowman's capsule.\n", + " definition of HP:0100611 (Multiple glomerular cysts)\n", + " \n", + " \n", + " Expressive aphasia\n", + " definition of HP:0002427 (Expressive aphasia)\n", + " \n", + " \n", + " Impairment of expressive language and relative preservation of receptive language abilities. That is, the patient understands language (speech, writing) but cannot express it.\n", + " definition of HP:0002427 (Expressive aphasia)\n", + " \n", + " \n", + " #Broca's aphasia #Loss of expressive speech #Motor aphasia #Non-fluent aphasia\n", + " definition of HP:0002427 (Expressive aphasia)\n", + " \n", + " \n", + " Villous atrophy\n", + " definition of HP:0011473 (Villous atrophy)\n", + " \n", + " \n", + " The enteric villi are atrophic or absent.\n", + " definition of HP:0011473 (Villous atrophy)\n", + " \n", + " \n", + " #Atrophy of small intestinal villi #Villous degeneration\n", + " definition of HP:0011473 (Villous atrophy)\n", + " \n", + " \n", + " Pericardial constriction\n", + " definition of HP:0005132 (Pericardial constriction)\n", + " \n", + " \n", + " Compression of the heart caused by rigid, thickened, or fused pericardial membranes.\n", + " definition of HP:0005132 (Pericardial constriction)\n", + " \n", + " \n", + " Reduced von Willebrand factor activity\n", + " definition of HP:0008330 (Reduced von Willebrand factor activity)\n", + " \n", + " \n", + " Decreased activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces.\n", + " definition of HP:0008330 (Reduced von Willebrand factor activity)\n", + " \n", + " \n", + " #Decreased von willebrand factor activity\n", + " definition of HP:0008330 (Reduced von Willebrand factor activity)\n", + " \n", + " \n", + " Obesity\n", + " definition of HP:0001513 (Obesity)\n", + " \n", + " \n", + " Accumulation of substantial excess body fat.\n", + " definition of HP:0001513 (Obesity)\n", + " \n", + " \n", + " #Having too much body fat #Obesity\n", + " definition of HP:0001513 (Obesity)\n", + " \n", + " \n", + " Supernumerary lacrimal punctum\n", + " definition of HP:0032514 (Supernumerary lacrimal punctum)\n", + " \n", + " \n", + " A congenital developmental anomaly characterized by the presence of an additional lacrimal punctum in an eyelid.\n", + " definition of HP:0032514 (Supernumerary lacrimal punctum)\n", + " \n", + " \n", + " #Accessory puncta #Double lacrimal puncta #Double punctum #Lacrimal punctum, duplication #Punctum reduplication #Supernumerary punctum\n", + " definition of HP:0032514 (Supernumerary lacrimal punctum)\n", + " \n", + " \n", + " Cylindruria\n", + " definition of HP:0012615 (Cylindruria)\n", + " \n", + " \n", + " The presence of renal casts (cylindrical, cigar-shaped structures produced by the kidney in certain disease states) in the urine.\n", + " definition of HP:0012615 (Cylindruria)\n", + " \n", + " \n", + " #Urinary casts\n", + " definition of HP:0012615 (Cylindruria)\n", + " \n", + " \n", + " Lack of skin elasticity\n", + " definition of HP:0100679 (Lack of skin elasticity)\n", + " \n", + " \n", + " Hypoplasia of maxilla relative to mandible\n", + " definition of HP:0410218 (Hypoplasia of maxilla relative to mandible)\n", + " \n", + " \n", + " Abnormally small dimension of the maxilla (upper jaw) relative to the mandible (lower jaw).\n", + " definition of HP:0410218 (Hypoplasia of maxilla relative to mandible)\n", + " \n", + " \n", + " #Disorder of maxillary and mandibular dental arch relationship\n", + " definition of HP:0410218 (Hypoplasia of maxilla relative to mandible)\n", + " \n", + " \n", + " Abnormal consumption behavior\n", + " definition of HP:0040202 (Abnormal consumption behavior)\n", + " \n", + " \n", + " Recurrent abnormal consumption of food, liquids, or objects that could have negative consequences for the individual.\n", + " definition of HP:0040202 (Abnormal consumption behavior)\n", + " \n", + " \n", + " #Abnormal consumption behaviour\n", + " definition of HP:0040202 (Abnormal consumption behavior)\n", + " \n", + " \n", + " Spinal myoclonus\n", + " definition of HP:0010531 (Spinal myoclonus)\n", + " \n", + " \n", + " Spinal myoclonus is generally due to a tumor, infection, injury, or degenerative process of the spinal cord, and is characterized by involuntary rhythmic muscle contractions, usually at a rate of more than one per second. Myoclonus occurs synchronously in several muscles and can be increased in severity and frequency by fatigue or stress, but is usually unaffected by sensory stimuli. Spinal myoclonus ceases during sleep or anesthesia.\n", + " definition of HP:0010531 (Spinal myoclonus)\n", + " \n", + " \n", + " Accumulation of muscle fiber valosin-containing protein\n", + " definition of HP:0030229 (Accumulation of muscle fiber valosin-containing protein)\n", + " \n", + " \n", + " Immunohistochemistry shows accumulation of valosin-containing protein in the muscle biopsy.\n", + " definition of HP:0030229 (Accumulation of muscle fiber valosin-containing protein)\n", + " \n", + " \n", + " #Accumulation of muscle fibre valosin-containing protein\n", + " definition of HP:0030229 (Accumulation of muscle fiber valosin-containing protein)\n", + " \n", + " \n", + " Decreased CSF leucine concentration\n", + " definition of HP:0500190 (Decreased CSF leucine concentration)\n", + " \n", + " \n", + " Abnormally decreased levels of leucine in the cerebrospinal fluid.\n", + " definition of HP:0500190 (Decreased CSF leucine concentration)\n", + " \n", + " \n", + " #Low leucine levels in cerebrospinal fluid\n", + " definition of HP:0500190 (Decreased CSF leucine concentration)\n", + " \n", + " \n", + " Cilioretinal artery occlusion\n", + " definition of HP:0020163 (Cilioretinal artery occlusion)\n", + " \n", + " \n", + " Blockage of the cilioretinal artery. The central retinal artery supplies the inner retina and the surface of the optic nerve. In some individuals, the cilioretinal artery, a branch of the ciliary circulation, may supply a portion of the retina including the macula. In cilioretinal artery occlusion, vision loss results from cell death in the inner retinal layers (mainly ganglion cells) despite relative sparing of the outer layers.\n", + " definition of HP:0020163 (Cilioretinal artery occlusion)\n", + " \n", + " \n", + " Fetal cytarabine exposure\n", + " definition of HP:0034847 (Fetal cytarabine exposure)\n", + " \n", + " \n", + " A history of exposure during pregnancy of the mother of a fetus or child to cytarabine.\n", + " definition of HP:0034847 (Fetal cytarabine exposure)\n", + " \n", + " \n", + " #Cytarabine exposure during gestation #Maternal cytarabine exposure\n", + " definition of HP:0034847 (Fetal cytarabine exposure)\n", + " \n", + " \n", + " Fetal chylothorax\n", + " definition of HP:0025677 (Fetal chylothorax)\n", + " \n", + " \n", + " The presence of chyle (a type of lipid-rich lymph) in the pleural space (the space surrounding the lung) as observed in a fetus.\n", + " definition of HP:0025677 (Fetal chylothorax)\n", + " \n", + " \n", + " Stasis dermatitis\n", + " definition of HP:0033564 (Stasis dermatitis)\n", + " \n", + " \n", + " Stasis dermatitis commonly occurs in older age. It is caused by venous hypertension resulting from retrograde flow due to incompetent venous valves, valve destruction, or obstruction of the venous system. Further tissue changes arise from an inflammatory process mediated by metalloproteinases, which are up-regulated by ferric ion from extravasated red blood cells. Stasis dermatitis presents initially as poorly demarcated erythematous plaques of the lower legs bilaterally, classically involving the medial malleolus.\n", + " definition of HP:0033564 (Stasis dermatitis)\n", + " \n", + " \n", + " #Varicose eczema #Venous eczema\n", + " definition of HP:0033564 (Stasis dermatitis)\n", + " \n", + " \n", + " Eyelid myoclonia seizure\n", + " definition of HP:0032678 (Eyelid myoclonia seizure)\n", + " \n", + " \n", + " An eyelid myoclonia seizure is a type of generalized myoclonic seizure which may or may not be associated with loss of awareness.\n", + " definition of HP:0032678 (Eyelid myoclonia seizure)\n", + " \n", + " \n", + " Retinal pigment epithelial atrophy\n", + " definition of HP:0007722 (Retinal pigment epithelial atrophy)\n", + " \n", + " \n", + " Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging.\n", + " definition of HP:0007722 (Retinal pigment epithelial atrophy)\n", + " \n", + " \n", + " Cleft of chin\n", + " definition of HP:0011323 (Cleft of chin)\n", + " \n", + " \n", + " Incomplete fusion of the chin, resulting from a developmental defect and manifesting as a midline cleft or fissure of the chin.\n", + " definition of HP:0011323 (Cleft of chin)\n", + " \n", + " \n", + " #Cleft of chin #Midline defect of chin\n", + " definition of HP:0011323 (Cleft of chin)\n", + " \n", + " \n", + " Exacerbated by pregnancy\n", + " definition of HP:0032542 (Exacerbated by pregnancy)\n", + " \n", + " \n", + " Applied to a sign or symptom that is worsened by being pregnant.\n", + " definition of HP:0032542 (Exacerbated by pregnancy)\n", + " \n", + " \n", + " Ivory epiphysis of the thumb\n", + " definition of HP:0009692 (Ivory epiphysis of the thumb)\n", + " \n", + " \n", + " Sclerosis of one or more of the epiphyses of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.\n", + " definition of HP:0009692 (Ivory epiphysis of the thumb)\n", + " \n", + " \n", + " #Increased bone density of end part of the thumb #Ivory epiphyses of the thumb\n", + " definition of HP:0009692 (Ivory epiphysis of the thumb)\n", + " \n", + " \n", + " Slit-like opening of the exterior auditory meatus\n", + " definition of HP:0008588 (Slit-like opening of the exterior auditory meatus)\n", + " \n", + " \n", + " A type of stenosis of the external auditory meatus in which the opening of the external auditory meatus appears as a vertical slit.\n", + " definition of HP:0008588 (Slit-like opening of the exterior auditory meatus)\n", + " \n", + " \n", + " Squamous cell carcinoma of the vulva\n", + " definition of HP:0030417 (Squamous cell carcinoma of the vulva)\n", + " \n", + " \n", + " A cancer that originates in the squamous cells that line the surface of the vulva.\n", + " definition of HP:0030417 (Squamous cell carcinoma of the vulva)\n", + " \n", + " \n", + " #Vulval squamous cell carcinoma\n", + " definition of HP:0030417 (Squamous cell carcinoma of the vulva)\n", + " \n", + " \n", + " Anti-threonyl-tRNA synthetase antibody positivity\n", + " definition of HP:0034143 (Anti-threonyl-tRNA synthetase antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against threonyl-tRNA synthetase.\n", + " definition of HP:0034143 (Anti-threonyl-tRNA synthetase antibody positivity)\n", + " \n", + " \n", + " #Anti-PL-7 antibody positivity\n", + " definition of HP:0034143 (Anti-threonyl-tRNA synthetase antibody positivity)\n", + " \n", + " \n", + " Unusual skin infection\n", + " definition of HP:0032162 (Unusual skin infection)\n", + " \n", + " \n", + " A type of infection of the skin that can be regarded as a sign of a pathological susceptibility to infection.\n", + " definition of HP:0032162 (Unusual skin infection)\n", + " \n", + " \n", + " Torsion of the penis\n", + " definition of HP:0030263 (Torsion of the penis)\n", + " \n", + " \n", + " Rotated position of the glans, with or without the penile shaft, of 30 degrees or more.\n", + " definition of HP:0030263 (Torsion of the penis)\n", + " \n", + " \n", + " Increased circulating mead acid level\n", + " definition of HP:0020148 (Increased circulating mead acid level)\n", + " \n", + " \n", + " An abnormally elevated concentration od mead acid in the blood circulation.\n", + " definition of HP:0020148 (Increased circulating mead acid level)\n", + " \n", + " \n", + " Impacted cerumen\n", + " definition of HP:0030788 (Impacted cerumen)\n", + " \n", + " \n", + " Blockage of the external auditory canal by a buildup of earwax.\n", + " definition of HP:0030788 (Impacted cerumen)\n", + " \n", + " \n", + " Increased circulating procalcitonin concentration\n", + " definition of HP:0032308 (Increased circulating procalcitonin concentration)\n", + " \n", + " \n", + " An elevated concentration of procalcitonin in the blood circulation.\n", + " definition of HP:0032308 (Increased circulating procalcitonin concentration)\n", + " \n", + " \n", + " #Increased circulating procalcitonin level\n", + " definition of HP:0032308 (Increased circulating procalcitonin concentration)\n", + " \n", + " \n", + " Spontaneous, recurrent epistaxis\n", + " definition of HP:0004406 (Spontaneous, recurrent epistaxis)\n", + " \n", + " \n", + " #Recurrent epistaxes #Recurrent epistaxis #Recurring nosebleed #Spontaneous, recurrent nosebleed\n", + " definition of HP:0004406 (Spontaneous, recurrent epistaxis)\n", + " \n", + " \n", + " Common origin of the right brachiocephalic artery and left common carotid artery\n", + " definition of HP:0011589 (Common origin of the right brachiocephalic artery and left common carotid artery)\n", + " \n", + " \n", + " The left common carotid artery has a common origin with the innominate artery.\n", + " definition of HP:0011589 (Common origin of the right brachiocephalic artery and left common carotid artery)\n", + " \n", + " \n", + " #Common brachiocephalic trunk\n", + " definition of HP:0011589 (Common origin of the right brachiocephalic artery and left common carotid artery)\n", + " \n", + " \n", + " Renal medullary pyramid hypoplasia\n", + " definition of HP:0025362 (Renal medullary pyramid hypoplasia)\n", + " \n", + " \n", + " Undergrowth of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla.\n", + " definition of HP:0025362 (Renal medullary pyramid hypoplasia)\n", + " \n", + " \n", + " #Hypoplasia of the medullary pyramids\n", + " definition of HP:0025362 (Renal medullary pyramid hypoplasia)\n", + " \n", + " \n", + " Aplasia of the proximal phalanx of the 5th toe\n", + " definition of HP:0100386 (Aplasia of the proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " #Absent innermost bone of the little toe #Absent innermost bone of the pinkie toe #Absent innermost bone of the pinky toe\n", + " definition of HP:0100386 (Aplasia of the proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " Ivory epiphysis of the middle phalanx of the 5th finger\n", + " definition of HP:0009209 (Ivory epiphysis of the middle phalanx of the 5th finger)\n", + " \n", + " \n", + " Sclerosis of the epiphysis of the middle phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.\n", + " definition of HP:0009209 (Ivory epiphysis of the middle phalanx of the 5th finger)\n", + " \n", + " \n", + " #Increased bone density of end part of the middle bone of little finger #Increased bone density of end part of the middle bone of pinkie finger #Increased bone density of end part of the middle bone of pinky finger\n", + " definition of HP:0009209 (Ivory epiphysis of the middle phalanx of the 5th finger)\n", + " \n", + " \n", + " Duplication of the middle phalanx of hand\n", + " definition of HP:0010008 (Duplication of the middle phalanx of hand)\n", + " \n", + " \n", + " This term applies if one or more of the middle phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.\n", + " definition of HP:0010008 (Duplication of the middle phalanx of hand)\n", + " \n", + " \n", + " #Duplication of the middle bones of hand #Partial/complete duplication of the middle phalanges of the hand\n", + " definition of HP:0010008 (Duplication of the middle phalanx of hand)\n", + " \n", + " \n", + " Retinopathy of prematurity stage 5b\n", + " definition of HP:0500058 (Retinopathy of prematurity stage 5b)\n", + " \n", + " \n", + " A closed funnel detachment of the retina with generally traction in all four quadrants.\n", + " definition of HP:0500058 (Retinopathy of prematurity stage 5b)\n", + " \n", + " \n", + " #ROP stage 5b\n", + " definition of HP:0500058 (Retinopathy of prematurity stage 5b)\n", + " \n", + " \n", + " Trophic changes related to pain\n", + " definition of HP:0010834 (Trophic changes related to pain)\n", + " \n", + " \n", + " Trophic changes is a term used to describe abnormalities in the area of pain that include primarily wasting away of the skin, tissues, or muscle, thinning of the bones, and changes in how the hair or nails grow, including thickening or thinning of hair or brittle nails.\n", + " definition of HP:0010834 (Trophic changes related to pain)\n", + " \n", + " \n", + " #Trophic changes\n", + " definition of HP:0010834 (Trophic changes related to pain)\n", + " \n", + " \n", + " Abnormality thigh musculature morphology\n", + " definition of HP:0001441 (Abnormality thigh musculature morphology)\n", + " \n", + " \n", + " #Abnormal thigh muscles #Abnormality of the musculature of the thigh\n", + " definition of HP:0001441 (Abnormality thigh musculature morphology)\n", + " \n", + " \n", + " Absence of subcutaneous fat\n", + " definition of HP:0007485 (Absence of subcutaneous fat)\n", + " \n", + " \n", + " Lack of subcutaneous adipose tissue.\n", + " definition of HP:0007485 (Absence of subcutaneous fat)\n", + " \n", + " \n", + " #Absent fat below the skin #General absence of subcutaneous fat #Lack of fatty tissue below the skin\n", + " definition of HP:0007485 (Absence of subcutaneous fat)\n", + " \n", + " \n", + " Finger hyperphalangy\n", + " definition of HP:0030367 (Finger hyperphalangy)\n", + " \n", + " \n", + " Hyperphalangy is a digit morphology in which increased numbers of phalanges are arranged linearly within a digit. That is, there is an accessory phalanx that is arranged linearly with the other phalanges.\n", + " definition of HP:0030367 (Finger hyperphalangy)\n", + " \n", + " \n", + " Odontogenic neoplasm\n", + " definition of HP:0100612 (Odontogenic neoplasm)\n", + " \n", + " \n", + " Neoplasm involving odontogenic cells, an odontogenic tumor.\n", + " definition of HP:0100612 (Odontogenic neoplasm)\n", + " \n", + " \n", + " #Odontogenic tumor #Odontogenic tumour\n", + " definition of HP:0100612 (Odontogenic neoplasm)\n", + " \n", + " \n", + " Oligodactyly\n", + " definition of HP:0012165 (Oligodactyly)\n", + " \n", + " \n", + " A developmental defect resulting in the presence of fewer than the normal number of digits.\n", + " definition of HP:0012165 (Oligodactyly)\n", + " \n", + " \n", + " Hypereosinophilia\n", + " definition of HP:0032061 (Hypereosinophilia)\n", + " \n", + " \n", + " A severely increased count of eosinophils in the blood defined as a blood eosinophil count of at least 1.5 billion cells per liter.\n", + " definition of HP:0032061 (Hypereosinophilia)\n", + " \n", + " \n", + " Vocal cord paralysis\n", + " definition of HP:0001605 (Vocal cord paralysis)\n", + " \n", + " \n", + " A loss of the ability to move the vocal folds.\n", + " definition of HP:0001605 (Vocal cord paralysis)\n", + " \n", + " \n", + " #Inability to move vocal cords #Laryngeal paralysis\n", + " definition of HP:0001605 (Vocal cord paralysis)\n", + " \n", + " \n", + " Sparse hair\n", + " definition of HP:0008070 (Sparse hair)\n", + " \n", + " \n", + " Reduced density of hairs.\n", + " definition of HP:0008070 (Sparse hair)\n", + " \n", + " \n", + " #Decreased hair growth #Decreased hair growth on body #Hypotrichosis #Marked hypotrichosis #Sparse hair #Sparse hair since birth\n", + " definition of HP:0008070 (Sparse hair)\n", + " \n", + " \n", + " Aplasia of the maxilla\n", + " definition of HP:0010667 (Aplasia of the maxilla)\n", + " \n", + " \n", + " A congenital defect characterized by absence of the Maxilla.\n", + " definition of HP:0010667 (Aplasia of the maxilla)\n", + " \n", + " \n", + " #Absence of the maxilla #Absence of upper jaw bones #Agenesis of the maxilla #Aplasia of the upper jaw bones #Failure of development of maxilla\n", + " definition of HP:0010667 (Aplasia of the maxilla)\n", + " \n", + " \n", + " Wide space between 4th and 5th toe\n", + " definition of HP:0410261 (Wide space between 4th and 5th toe)\n", + " \n", + " \n", + " A widely spaced gap between the fourth toe and the fifth (pinky) toe.\n", + " definition of HP:0410261 (Wide space between 4th and 5th toe)\n", + " \n", + " \n", + " #Wide space between the 4th and 5th toe\n", + " definition of HP:0410261 (Wide space between 4th and 5th toe)\n", + " \n", + " \n", + " Renal agenesis\n", + " definition of HP:0000104 (Renal agenesis)\n", + " \n", + " \n", + " Agenesis, that is, failure of the kidney to develop during embryogenesis and development.\n", + " definition of HP:0000104 (Renal agenesis)\n", + " \n", + " \n", + " #Absent kidney #Missing kidney #Renal aplasia\n", + " definition of HP:0000104 (Renal agenesis)\n", + " \n", + " \n", + " Abnormal peristalsis\n", + " definition of HP:0030914 (Abnormal peristalsis)\n", + " \n", + " \n", + " An anomaly of the wave-like muscle contractions of the digestive tract.\n", + " definition of HP:0030914 (Abnormal peristalsis)\n", + " \n", + " \n", + " Lipoma\n", + " definition of HP:0012032 (Lipoma)\n", + " \n", + " \n", + " Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous.\n", + " definition of HP:0012032 (Lipoma)\n", + " \n", + " \n", + " #Fatty lump #Noncancerous fatty lump\n", + " definition of HP:0012032 (Lipoma)\n", + " \n", + " \n", + " Delusion\n", + " definition of HP:0000746 (Delusion)\n", + " \n", + " \n", + " A delusion is a fixed false belief held despite evidence to the contrary. The term delusion broadly encompasses all false judgments that possess the following external characteristics to a significant, albeit unspecified, extent: (1) they are held with an exceptional level of conviction, accompanied by an unparalleled subjective certainty; (2) there is an inability to consider alternative experiences or compelling counter-arguments; (3) the content of the belief is impossible.\n", + " definition of HP:0000746 (Delusion)\n", + " \n", + " \n", + " #Delusions\n", + " definition of HP:0000746 (Delusion)\n", + " \n", + " \n", + " Persistent lactic acidosis\n", + " definition of HP:0004898 (Persistent lactic acidosis)\n", + " \n", + " \n", + " A continuous form of lactic acidemia.\n", + " definition of HP:0004898 (Persistent lactic acidosis)\n", + " \n", + " \n", + " Recurrent infantile hypoglycemia\n", + " definition of HP:0004914 (Recurrent infantile hypoglycemia)\n", + " \n", + " \n", + " Recurrent episodes of decreased concentration of glucose in the blood occurring during the infantile period.\n", + " definition of HP:0004914 (Recurrent infantile hypoglycemia)\n", + " \n", + " \n", + " #Episodic infantile hypoglycemia #Recurrent low blood sugar in infant\n", + " definition of HP:0004914 (Recurrent infantile hypoglycemia)\n", + " \n", + " \n", + " Abnormality of artery of lower lip\n", + " definition of HP:3000056 (Abnormality of artery of lower lip)\n", + " \n", + " \n", + " An abnormality of an artery of lower lip.\n", + " definition of HP:3000056 (Abnormality of artery of lower lip)\n", + " \n", + " \n", + " #Abnormality of the inferior labial artery\n", + " definition of HP:3000056 (Abnormality of artery of lower lip)\n", + " \n", + " \n", + " Chronic constipation\n", + " definition of HP:0012450 (Chronic constipation)\n", + " \n", + " \n", + " Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation.\n", + " definition of HP:0012450 (Chronic constipation)\n", + " \n", + " \n", + " #Chronic constipation #Infrequent bowel movements\n", + " definition of HP:0012450 (Chronic constipation)\n", + " \n", + " \n", + " Narrow incisura width\n", + " definition of HP:0031231 (Narrow incisura width)\n", + " \n", + " \n", + " Width of the incisura from the anterior to posterior border less than that observed in the average population.\n", + " definition of HP:0031231 (Narrow incisura width)\n", + " \n", + " \n", + " Positive CSF JC-virus nucleic acid test\n", + " definition of HP:6000552 (Positive CSF JC-virus nucleic acid test)\n", + " \n", + " \n", + " Detection of JC-virus nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction.\n", + " definition of HP:6000552 (Positive CSF JC-virus nucleic acid test)\n", + " \n", + " \n", + " Elevated aldosterone:renin ratio\n", + " definition of HP:6000318 (Elevated aldosterone:renin ratio)\n", + " \n", + " \n", + " The ratio of aldosterone concentration to renin concentration is above the upper limit of normal. If aldosterone is expressed in ng/dl and plasma renin activity is expressed as ng/ml/hr, then values above 20 with aldosterone level above 15 are considered indicative of primary aldosteronism.\n", + " definition of HP:6000318 (Elevated aldosterone:renin ratio)\n", + " \n", + " \n", + " Contracture of the distal interphalangeal joint of the 5th finger\n", + " definition of HP:0009184 (Contracture of the distal interphalangeal joint of the 5th finger)\n", + " \n", + " \n", + " Chronic loss of joint motion of the distal interphalangeal joint of the 5th finger due to structural changes in non-bony tissue.\n", + " definition of HP:0009184 (Contracture of the distal interphalangeal joint of the 5th finger)\n", + " \n", + " \n", + " Bilateral breast hypoplasia\n", + " definition of HP:0012814 (Bilateral breast hypoplasia)\n", + " \n", + " \n", + " Underdevelopment of the breast on both sides.\n", + " definition of HP:0012814 (Bilateral breast hypoplasia)\n", + " \n", + " \n", + " #Two underdeveloped breasts\n", + " definition of HP:0012814 (Bilateral breast hypoplasia)\n", + " \n", + " \n", + " Decreased muscle succinate dehydrogenase staining\n", + " definition of HP:0034792 (Decreased muscle succinate dehydrogenase staining)\n", + " \n", + " \n", + " Large intestinal polyposis\n", + " definition of HP:0030255 (Large intestinal polyposis)\n", + " \n", + " \n", + " The presence of multiple polyps in the large intestine.\n", + " definition of HP:0030255 (Large intestinal polyposis)\n", + " \n", + " \n", + " Abnormality of the posterior hairline\n", + " definition of HP:0030141 (Abnormality of the posterior hairline)\n", + " \n", + " \n", + " An anomaly in the placement or shape of the hairline (trichion) on the back of the head (neck), that is, the border between skin on the back of the head that has head hair.\n", + " definition of HP:0030141 (Abnormality of the posterior hairline)\n", + " \n", + " \n", + " #Abnormality of hairline at back of head\n", + " definition of HP:0030141 (Abnormality of the posterior hairline)\n", + " \n", + " \n", + " Subpleural curvilinear line\n", + " definition of HP:0033702 (Subpleural curvilinear line)\n", + " \n", + " \n", + " This finding is a thin curvilinear opacity, 1-3 mm in thickness, lying less than 1 cm from and parallel to the pleural surface. It corresponds to atelectasis of normal lung if seen in the dependent posteroinferior portion of lung of a patient in the supine position and is subsequently shown to disappear on CT sections acquired with the patient prone. It may also be encountered in patients with pulmonary edema or fibrosis (other signs are usually present).\n", + " definition of HP:0033702 (Subpleural curvilinear line)\n", + " \n", + " \n", + " Oligodontia\n", + " definition of HP:0000677 (Oligodontia)\n", + " \n", + " \n", + " The absence of six or more teeth from the normal series by a failure to develop.\n", + " definition of HP:0000677 (Oligodontia)\n", + " \n", + " \n", + " #Failure of development of more than six teeth #Partial anodontia\n", + " definition of HP:0000677 (Oligodontia)\n", + " \n", + " \n", + " Wrist ganglion\n", + " definition of HP:0020076 (Wrist ganglion)\n", + " \n", + " \n", + " A benign soft tissue tumor of the wrist usually found in the dorsal aspect of the wrist and communicate with the joint via a pedicle. This pedicle usually originates not only at the scapholunate ligament, but also may arise from a number of other sites over the dorsal aspect of the wrist capsule.\n", + " definition of HP:0020076 (Wrist ganglion)\n", + " \n", + " \n", + " #Ganglion cyst of the wrist\n", + " definition of HP:0020076 (Wrist ganglion)\n", + " \n", + " \n", + " Thoracic cage flatness\n", + " definition of HP:6000327 (Thoracic cage flatness)\n", + " \n", + " \n", + " The anteroposterior dimension of the chest on the lateral radiograph is often relatively narrow compared with the chest width on the frontal radiograph.\n", + " definition of HP:6000327 (Thoracic cage flatness)\n", + " \n", + " \n", + " #Flat chest\n", + " definition of HP:6000327 (Thoracic cage flatness)\n", + " \n", + " \n", + " Alopecia\n", + " definition of HP:0001596 (Alopecia)\n", + " \n", + " \n", + " A noncongenital process of hair loss, which may progress to partial or complete baldness.\n", + " definition of HP:0001596 (Alopecia)\n", + " \n", + " \n", + " #Hair loss\n", + " definition of HP:0001596 (Alopecia)\n", + " \n", + " \n", + " Cortically dense long tubular bones\n", + " definition of HP:0006415 (Cortically dense long tubular bones)\n", + " \n", + " \n", + " Increased density of the compact bone of long bone.\n", + " definition of HP:0006415 (Cortically dense long tubular bones)\n", + " \n", + " \n", + " Recurrent bacterial skin infections\n", + " definition of HP:0005406 (Recurrent bacterial skin infections)\n", + " \n", + " \n", + " Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis.\n", + " definition of HP:0005406 (Recurrent bacterial skin infections)\n", + " \n", + " \n", + " #Recurrent bacterial skin infections #Recurrent cutaneous pyogenic infections #Recurrent episodes of impetigo #Recurrent episodes of infectious dermatitis #Recurrent pyogenic skin infections\n", + " definition of HP:0005406 (Recurrent bacterial skin infections)\n", + " \n", + " \n", + " Conjunctival follicles\n", + " definition of HP:0030947 (Conjunctival follicles)\n", + " \n", + " \n", + " Small, dome-shaped nodules without a prominent central vessel located on the conjunctiva. The lymphoid follicles are located in the subendothelial region of the conjunctiva. They consist of a germinal center that contains immature, proliferating lymphocytes, as well as a corona that contains mature lymphocytes and plasma cells.\n", + " definition of HP:0030947 (Conjunctival follicles)\n", + " \n", + " \n", + " Neoplasm of the ear\n", + " definition of HP:0012780 (Neoplasm of the ear)\n", + " \n", + " \n", + " A tumor (abnormal growth of tissue) of the ear.\n", + " definition of HP:0012780 (Neoplasm of the ear)\n", + " \n", + " \n", + " #Ear tumor #Ear tumour\n", + " definition of HP:0012780 (Neoplasm of the ear)\n", + " \n", + " \n", + " Bullet-shaped toe phalanx\n", + " definition of HP:0010175 (Bullet-shaped toe phalanx)\n", + " \n", + " \n", + " An abnormal morphology of one or more phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.\n", + " definition of HP:0010175 (Bullet-shaped toe phalanx)\n", + " \n", + " \n", + " #Bullet-shaped phalanges of the toes #Bullet-shaped toe bone\n", + " definition of HP:0010175 (Bullet-shaped toe phalanx)\n", + " \n", + " \n", + " Intermittent thrombocytopenia\n", + " definition of HP:0004854 (Intermittent thrombocytopenia)\n", + " \n", + " \n", + " Reduced platelet count that occurs sporadically, i.e., it comes and goes.\n", + " definition of HP:0004854 (Intermittent thrombocytopenia)\n", + " \n", + " \n", + " Abnormality of ciliary ganglion\n", + " definition of HP:3000025 (Abnormality of ciliary ganglion)\n", + " \n", + " \n", + " An abnormality of a ciliary ganglion.\n", + " definition of HP:3000025 (Abnormality of ciliary ganglion)\n", + " \n", + " \n", + " Rheumatoid nodule\n", + " definition of HP:6000418 (Rheumatoid nodule)\n", + " \n", + " \n", + " A well-demarcated, flesh colored, subcutaneous and usually freely movable lump or mass. Rheumatoid nodules can vary in size from small, pea sized lesions up to the size of a lemon and are most often round. The nodules usually are doughy or firm however and not tender. Typically rheumatoid nodules are distributed over areas of repeated trauma or pressure and occur adjacent to joints on extensor surfaces, such as the elbow, fingers and forearms.\n", + " definition of HP:6000418 (Rheumatoid nodule)\n", + " \n", + " \n", + " Abnormal brainstem morphology\n", + " definition of HP:0002363 (Abnormal brainstem morphology)\n", + " \n", + " \n", + " An anomaly of the brainstem.\n", + " definition of HP:0002363 (Abnormal brainstem morphology)\n", + " \n", + " \n", + " #Abnormal shape of brainstem #Abnormality of brainstem morphology #Abnormality of the brainstem\n", + " definition of HP:0002363 (Abnormal brainstem morphology)\n", + " \n", + " \n", + " Misalignment of incisors\n", + " definition of HP:0011062 (Misalignment of incisors)\n", + " \n", + " \n", + " Misaligned incisor.\n", + " definition of HP:0011062 (Misalignment of incisors)\n", + " \n", + " \n", + " #Abnormality of alignment of incisors #Crooked front teeth #Crooked incisors #Misalignment of incisors\n", + " definition of HP:0011062 (Misalignment of incisors)\n", + " \n", + " \n", + " Inguinal abscess\n", + " definition of HP:0033590 (Inguinal abscess)\n", + " \n", + " \n", + " A circumscribed area of pus or necrotic debris in the groin (inguinal region).\n", + " definition of HP:0033590 (Inguinal abscess)\n", + " \n", + " \n", + " #Groin abscess\n", + " definition of HP:0033590 (Inguinal abscess)\n", + " \n", + " \n", + " Subchorionic septal cyst\n", + " definition of HP:0030720 (Subchorionic septal cyst)\n", + " \n", + " \n", + " Cyst on the surface of the placenta consisting of amnion and chorion.\n", + " definition of HP:0030720 (Subchorionic septal cyst)\n", + " \n", + " \n", + " Elevated urinary bile alcohol level\n", + " definition of HP:6001007 (Elevated urinary bile alcohol level)\n", + " \n", + " \n", + " The amount of bile alcohol in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6001007 (Elevated urinary bile alcohol level)\n", + " \n", + " \n", + " Elevated CSF biopterin level\n", + " definition of HP:0040208 (Elevated CSF biopterin level)\n", + " \n", + " \n", + " Concentration of biopterin in the cerebrospinal fluid (CSF) above the upper limit of normal.\n", + " definition of HP:0040208 (Elevated CSF biopterin level)\n", + " \n", + " \n", + " Chronic lung disease\n", + " definition of HP:0006528 (Chronic lung disease)\n", + " \n", + " \n", + " According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities.\n", + " definition of HP:0006528 (Chronic lung disease)\n", + " \n", + " \n", + " #Chronic lung disease\n", + " definition of HP:0006528 (Chronic lung disease)\n", + " \n", + " \n", + " Distal joint hypermobility\n", + " definition of HP:0020152 (Distal joint hypermobility)\n", + " \n", + " \n", + " Lack of stability of a distal joint (e.g., finger).\n", + " definition of HP:0020152 (Distal joint hypermobility)\n", + " \n", + " \n", + " #Distal joint laxity\n", + " definition of HP:0020152 (Distal joint hypermobility)\n", + " \n", + " \n", + " Large iliac wing\n", + " definition of HP:0008818 (Large iliac wing)\n", + " \n", + " \n", + " Increased size of the ilium ala.\n", + " definition of HP:0008818 (Large iliac wing)\n", + " \n", + " \n", + " #Large iliac wings\n", + " definition of HP:0008818 (Large iliac wing)\n", + " \n", + " \n", + " Moderate sensorineural hearing impairment\n", + " definition of HP:0008504 (Moderate sensorineural hearing impairment)\n", + " \n", + " \n", + " The presence of a moderate form of sensorineural hearing impairment.\n", + " definition of HP:0008504 (Moderate sensorineural hearing impairment)\n", + " \n", + " \n", + " Tetraplegia/tetraparesis\n", + " definition of HP:0030182 (Tetraplegia/tetraparesis)\n", + " \n", + " \n", + " Loss of strength in all four limbs. Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength.\n", + " definition of HP:0030182 (Tetraplegia/tetraparesis)\n", + " \n", + " \n", + " Enuresis nocturna\n", + " definition of HP:0010677 (Enuresis nocturna)\n", + " \n", + " \n", + " Enuresis occurring during sleeping hours.\n", + " definition of HP:0010677 (Enuresis nocturna)\n", + " \n", + " \n", + " #Nocturnal enuresis\n", + " definition of HP:0010677 (Enuresis nocturna)\n", + " \n", + " \n", + " Muscle fiber fuchsinophilic inclusion bodies\n", + " definition of HP:0034519 (Muscle fiber fuchsinophilic inclusion bodies)\n", + " \n", + " \n", + " The presence of inclusion bodies within the cytoplasm of muscle cells that react positively with acid fuchsin.\n", + " definition of HP:0034519 (Muscle fiber fuchsinophilic inclusion bodies)\n", + " \n", + " \n", + " Absent thumbnail\n", + " definition of HP:0012554 (Absent thumbnail)\n", + " \n", + " \n", + " Absence of thumb nail.\n", + " definition of HP:0012554 (Absent thumbnail)\n", + " \n", + " \n", + " Irregular acetabular roof\n", + " definition of HP:0008833 (Irregular acetabular roof)\n", + " \n", + " \n", + " Impaired transferring ability\n", + " definition of HP:0031062 (Impaired transferring ability)\n", + " \n", + " \n", + " Applies to an individual who needs help in moving from bed to chair or requires a complete transfer.\n", + " definition of HP:0031062 (Impaired transferring ability)\n", + " \n", + " \n", + " Follicular thyroid carcinoma\n", + " definition of HP:0006731 (Follicular thyroid carcinoma)\n", + " \n", + " \n", + " The presence of an follicular adenocarcinoma of the thyroid gland.\n", + " definition of HP:0006731 (Follicular thyroid carcinoma)\n", + " \n", + " \n", + " EMG: decremental response of compound muscle action potential to repetitive nerve stimulation\n", + " definition of HP:0003403 (EMG: decremental response of compound muscle action potential to repetitive nerve stimulation)\n", + " \n", + " \n", + " A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to a greater than normal decrease in the amplitude during the course of the investigation.\n", + " definition of HP:0003403 (EMG: decremental response of compound muscle action potential to repetitive nerve stimulation)\n", + " \n", + " \n", + " #EMG: decremental response of CMAP to repetitive nerve stimulation\n", + " definition of HP:0003403 (EMG: decremental response of compound muscle action potential to repetitive nerve stimulation)\n", + " \n", + " \n", + " Elevated CSF D-glyceric acid concentration\n", + " definition of HP:6000372 (Elevated CSF D-glyceric acid concentration)\n", + " \n", + " \n", + " The concentration of D-carboxylic acid in the cerebrospinal fluid (CSF) is above the upper limit of normal.\n", + " definition of HP:6000372 (Elevated CSF D-glyceric acid concentration)\n", + " \n", + " \n", + " #D-glyceric acid high in CSF\n", + " definition of HP:6000372 (Elevated CSF D-glyceric acid concentration)\n", + " \n", + " \n", + " Coronary sinus diverticulum\n", + " definition of HP:0011644 (Coronary sinus diverticulum)\n", + " \n", + " \n", + " A venous pouch within the left ventricular wall, with a neck opening into the coronary sinus.\n", + " definition of HP:0011644 (Coronary sinus diverticulum)\n", + " \n", + " \n", + " #Diverticulum of the coronary sinus\n", + " definition of HP:0011644 (Coronary sinus diverticulum)\n", + " \n", + " \n", + " Lobulated tongue\n", + " definition of HP:0000180 (Lobulated tongue)\n", + " \n", + " \n", + " Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour.\n", + " definition of HP:0000180 (Lobulated tongue)\n", + " \n", + " \n", + " #Bumpy tongue #Lingual lobules #Lobulate tongue\n", + " definition of HP:0000180 (Lobulated tongue)\n", + " \n", + " \n", + " Flight of ideas\n", + " definition of HP:5200234 (Flight of ideas)\n", + " \n", + " \n", + " Successive thoughts and speech are easily diverted by external stimuli or internal superficial associations. Unable to maintain a constant train of thought and lose themselves in side issues, losing the thread and are unable to recover it. Superficial connections appear to drive the subject matter.\n", + " definition of HP:5200234 (Flight of ideas)\n", + " \n", + " \n", + " #Clang associations #Distracted speech #Rhyming puns\n", + " definition of HP:5200234 (Flight of ideas)\n", + " \n", + " \n", + " Reduced circulating acylcarnitine concentration\n", + " definition of HP:0033445 (Reduced circulating acylcarnitine concentration)\n", + " \n", + " \n", + " An abnormally reduced concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine.\n", + " definition of HP:0033445 (Reduced circulating acylcarnitine concentration)\n", + " \n", + " \n", + " Short phalanx of the thumb\n", + " definition of HP:0009660 (Short phalanx of the thumb)\n", + " \n", + " \n", + " Hypoplastic (short) thumb phalanx.\n", + " definition of HP:0009660 (Short phalanx of the thumb)\n", + " \n", + " \n", + " #Hypoplastic thumb phalanges #Hypoplastic/small phalanges of the thumb #Short thumb bone #Short thumb phalanges\n", + " definition of HP:0009660 (Short phalanx of the thumb)\n", + " \n", + " \n", + " Visual field defect\n", + " definition of HP:0001123 (Visual field defect)\n", + " \n", + " \n", + " #Partial loss of field of vision #Visual field defects\n", + " definition of HP:0001123 (Visual field defect)\n", + " \n", + " \n", + " Elevated circulating N-carbamoyl-beta-alanine concentration\n", + " definition of HP:0034595 (Elevated circulating N-carbamoyl-beta-alanine concentration)\n", + " \n", + " \n", + " An increased concentrationof N-carbamoyl-beta-alanine in the blood circulation.\n", + " definition of HP:0034595 (Elevated circulating N-carbamoyl-beta-alanine concentration)\n", + " \n", + " \n", + " #N-carbamoyl-beta-alanine acid high in blood\n", + " definition of HP:0034595 (Elevated circulating N-carbamoyl-beta-alanine concentration)\n", + " \n", + " \n", + " Abnormal hallux morphology\n", + " definition of HP:0001844 (Abnormal hallux morphology)\n", + " \n", + " \n", + " This term applies for all abnormalities of the big toe, also called hallux.\n", + " definition of HP:0001844 (Abnormal hallux morphology)\n", + " \n", + " \n", + " #Abnormalities of the hallux #Abnormality of the big toe #Abnormality of the hallux\n", + " definition of HP:0001844 (Abnormal hallux morphology)\n", + " \n", + " \n", + " Pectus excavatum\n", + " definition of HP:0000767 (Pectus excavatum)\n", + " \n", + " \n", + " A defect of the chest wall characterized by a depression of the sternum, giving the chest (\\"pectus\\") a caved-in (\\"excavatum\\") appearance.\n", + " definition of HP:0000767 (Pectus excavatum)\n", + " \n", + " \n", + " #Funnel chest\n", + " definition of HP:0000767 (Pectus excavatum)\n", + " \n", + " \n", + " Enlarged amygdala\n", + " definition of HP:0033669 (Enlarged amygdala)\n", + " \n", + " \n", + " A increase in the volume (size) of the amygdyla.\n", + " definition of HP:0033669 (Enlarged amygdala)\n", + " \n", + " \n", + " #Amygdalar enlargement\n", + " definition of HP:0033669 (Enlarged amygdala)\n", + " \n", + " \n", + " Metaphyseal chondromatosis of radius\n", + " definition of HP:0030296 (Metaphyseal chondromatosis of radius)\n", + " \n", + " \n", + " Absent palmar crease\n", + " definition of HP:0010489 (Absent palmar crease)\n", + " \n", + " \n", + " The absence of the major creases of the palm (distal transverse crease, proximal transverse crease, or thenar crease).\n", + " definition of HP:0010489 (Absent palmar crease)\n", + " \n", + " \n", + " #Absence of the palmar creases #Absent palm lines #Aplasia of the palmar creases\n", + " definition of HP:0010489 (Absent palmar crease)\n", + " \n", + " \n", + " Lymphocytosis\n", + " definition of HP:0100827 (Lymphocytosis)\n", + " \n", + " \n", + " Increase in the number or proportion of lymphocytes in the blood.\n", + " definition of HP:0100827 (Lymphocytosis)\n", + " \n", + " \n", + " #High lymphocyte count\n", + " definition of HP:0100827 (Lymphocytosis)\n", + " \n", + " \n", + " Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell count\n", + " definition of HP:0030335 (Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell count)\n", + " \n", + " \n", + " A deviation from the normal count of CD4-positive, CD25-positive, alpha-beta regulatory T cells.\n", + " definition of HP:0030335 (Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell count)\n", + " \n", + " \n", + " Elevated urine suberylglycine level\n", + " definition of HP:0034650 (Elevated urine suberylglycine level)\n", + " \n", + " \n", + " Level of suberylglycine in urine above upper limit of normal.\n", + " definition of HP:0034650 (Elevated urine suberylglycine level)\n", + " \n", + " \n", + " #Suberylglycine high in urine\n", + " definition of HP:0034650 (Elevated urine suberylglycine level)\n", + " \n", + " \n", + " Muscular cardiac diverticulum\n", + " definition of HP:0100573 (Muscular cardiac diverticulum)\n", + " \n", + " \n", + " Triceps hypoplasia\n", + " definition of HP:0100855 (Triceps hypoplasia)\n", + " \n", + " \n", + " Hypoplasia of the triceps muscle.\n", + " definition of HP:0100855 (Triceps hypoplasia)\n", + " \n", + " \n", + " #Small triceps #Underdeveloped triceps\n", + " definition of HP:0100855 (Triceps hypoplasia)\n", + " \n", + " \n", + " Small fontanelle\n", + " definition of HP:0005486 (Small fontanelle)\n", + " \n", + " \n", + " A fontanelle that is small for age.\n", + " definition of HP:0005486 (Small fontanelle)\n", + " \n", + " \n", + " #Little fontanelle #Microfontanelle #Small soft spot\n", + " definition of HP:0005486 (Small fontanelle)\n", + " \n", + " \n", + " Abnormal neural tube morphology\n", + " definition of HP:0410043 (Abnormal neural tube morphology)\n", + " \n", + " \n", + " Any structural anomaly of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord).\n", + " definition of HP:0410043 (Abnormal neural tube morphology)\n", + " \n", + " \n", + " Sulfite oxidase deficiency\n", + " definition of HP:0003643 (Sulfite oxidase deficiency)\n", + " \n", + " \n", + " Abnormally reduced sulfite oxidase level.\n", + " definition of HP:0003643 (Sulfite oxidase deficiency)\n", + " \n", + " \n", + " Increased circulating prealbumin concentration\n", + " definition of HP:0033451 (Increased circulating prealbumin concentration)\n", + " \n", + " \n", + " An elevation above the normal concentration of prealbumin in the blood circulation.\n", + " definition of HP:0033451 (Increased circulating prealbumin concentration)\n", + " \n", + " \n", + " Xanthinuria\n", + " definition of HP:0010934 (Xanthinuria)\n", + " \n", + " \n", + " An increased concentration of xanthine in the urine.\n", + " definition of HP:0010934 (Xanthinuria)\n", + " \n", + " \n", + " #Increased urinary xanthine\n", + " definition of HP:0010934 (Xanthinuria)\n", + " \n", + " \n", + " Abnormality of the epiphysis of the proximal phalanx of the 3rd finger\n", + " definition of HP:0009333 (Abnormality of the epiphysis of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Abnormality of the end part of the innermost bone of the middle finger\n", + " definition of HP:0009333 (Abnormality of the epiphysis of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Irregular epiphyses of the phalanges of the hand\n", + " definition of HP:0010233 (Irregular epiphyses of the phalanges of the hand)\n", + " \n", + " \n", + " Irregular radiographic opacity of the epiphyses of the phalanges of the fingers.\n", + " definition of HP:0010233 (Irregular epiphyses of the phalanges of the hand)\n", + " \n", + " \n", + " #Irregular end part of finger bones #Irregular epiphyses of the fingers\n", + " definition of HP:0010233 (Irregular epiphyses of the phalanges of the hand)\n", + " \n", + " \n", + " Parietal bossing\n", + " definition of HP:0000242 (Parietal bossing)\n", + " \n", + " \n", + " Parietal bossing is a marked prominence in the parietal region.\n", + " definition of HP:0000242 (Parietal bossing)\n", + " \n", + " \n", + " #Biparietal bossing #Bossing of parietal bone\n", + " definition of HP:0000242 (Parietal bossing)\n", + " \n", + " \n", + " Lethargy\n", + " definition of HP:0001254 (Lethargy)\n", + " \n", + " \n", + " A state of fatigue, either physical or mental slowness and sluggishness, with difficulties in initiating or performing simple tasks. Distinguished from apathy which implies indifference and a lack of desire or interest in the task. A person with lethargy may have the desire, but not the energy to engage in personal or socially relevant tasks.\n", + " definition of HP:0001254 (Lethargy)\n", + " \n", + " \n", + " #Dullness #Inaction #Inactivity #Languor #Lethargy #Slowness #Torpor\n", + " definition of HP:0001254 (Lethargy)\n", + " \n", + " \n", + " Coxa valga\n", + " definition of HP:0002673 (Coxa valga)\n", + " \n", + " \n", + " Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults).\n", + " definition of HP:0002673 (Coxa valga)\n", + " \n", + " \n", + " #Valgus hip\n", + " definition of HP:0002673 (Coxa valga)\n", + " \n", + " \n", + " Generalized non-motor (absence) seizure\n", + " definition of HP:0002121 (Generalized non-motor (absence) seizure)\n", + " \n", + " \n", + " A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.\n", + " definition of HP:0002121 (Generalized non-motor (absence) seizure)\n", + " \n", + " \n", + " #Absence seizure #Absence seizures #Brief seizures with staring spells #Generalised non-motor (absence) seizure #Generalised non-motor seizure #Petit mal #Petit mal seizure #Petit mal seizures\n", + " definition of HP:0002121 (Generalized non-motor (absence) seizure)\n", + " \n", + " \n", + " Abnormality of refraction\n", + " definition of HP:0000539 (Abnormality of refraction)\n", + " \n", + " \n", + " An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina.\n", + " definition of HP:0000539 (Abnormality of refraction)\n", + " \n", + " \n", + " Anti-Yo antibody positivity\n", + " definition of HP:5000037 (Anti-Yo antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Yo.\n", + " definition of HP:5000037 (Anti-Yo antibody positivity)\n", + " \n", + " \n", + " #Anti-Purkinje cell cytoplasmic antibody 1\n", + " definition of HP:5000037 (Anti-Yo antibody positivity)\n", + " \n", + " \n", + " Homonymous hemianopia\n", + " definition of HP:0030516 (Homonymous hemianopia)\n", + " \n", + " \n", + " #Homonymous hemianopsia\n", + " definition of HP:0030516 (Homonymous hemianopia)\n", + " \n", + " \n", + " Cold-induced hand cramps\n", + " definition of HP:0003435 (Cold-induced hand cramps)\n", + " \n", + " \n", + " Atrophic muscularis propria\n", + " definition of HP:0025149 (Atrophic muscularis propria)\n", + " \n", + " \n", + " Partial or complete wasting (loss) of muscularois propria tissue that was once present. The atrophy may involve a marked vacuolar degeneration of myocytes, loss of muscle fibers and some cases a highly characteristic honeycomb fibrosis.\n", + " definition of HP:0025149 (Atrophic muscularis propria)\n", + " \n", + " \n", + " Shortened QT interval\n", + " definition of HP:0012232 (Shortened QT interval)\n", + " \n", + " \n", + " Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).\n", + " definition of HP:0012232 (Shortened QT interval)\n", + " \n", + " \n", + " Ivory epiphyses of the toes\n", + " definition of HP:0010168 (Ivory epiphyses of the toes)\n", + " \n", + " \n", + " #Increased bone density of end part of the toes\n", + " definition of HP:0010168 (Ivory epiphyses of the toes)\n", + " \n", + " \n", + " Absent muscle fiber beta sarcoglycan\n", + " definition of HP:0030106 (Absent muscle fiber beta sarcoglycan)\n", + " \n", + " \n", + " Immunohistochemistry shows complete lack of beta sarcoglycan protein in the muscle biopsy.\n", + " definition of HP:0030106 (Absent muscle fiber beta sarcoglycan)\n", + " \n", + " \n", + " #Absent muscle fibre beta sarcoglycan\n", + " definition of HP:0030106 (Absent muscle fiber beta sarcoglycan)\n", + " \n", + " \n", + " Radiographic modifier\n", + " definition of HP:0025788 (Radiographic modifier)\n", + " \n", + " \n", + " A characteristic of a lesion on radiography.\n", + " definition of HP:0025788 (Radiographic modifier)\n", + " \n", + " \n", + " #Radiographic quality\n", + " definition of HP:0025788 (Radiographic modifier)\n", + " \n", + " \n", + " Middle cerebral artery stroke\n", + " definition of HP:0033762 (Middle cerebral artery stroke)\n", + " \n", + " \n", + " Acute onset neurological deficits such as weakness, dizziness, numbness, issues with speech, or visual changes related to sudden impairment of blood flow to a part of the brain due to occlusion or rupture of the middle cerebral artery to the brain.\n", + " definition of HP:0033762 (Middle cerebral artery stroke)\n", + " \n", + " \n", + " Excessive shyness\n", + " definition of HP:0100962 (Excessive shyness)\n", + " \n", + " \n", + " Atypically high degree of awkwardness or apprehension experienced when approaching or being approached by others.\n", + " definition of HP:0100962 (Excessive shyness)\n", + " \n", + " \n", + " #Shyness\n", + " definition of HP:0100962 (Excessive shyness)\n", + " \n", + " \n", + " Cystoid macular edema\n", + " definition of HP:0011505 (Cystoid macular edema)\n", + " \n", + " \n", + " Cystoid macular edema (CME) is any type of macular edema that involves cyst formation.\n", + " definition of HP:0011505 (Cystoid macular edema)\n", + " \n", + " \n", + " #Cystoid macular edema\n", + " definition of HP:0011505 (Cystoid macular edema)\n", + " \n", + " \n", + " EEG with generalized spikes\n", + " definition of HP:0012000 (EEG with generalized spikes)\n", + " \n", + " \n", + " EEG with generalized sharp transient waves of a duration less than 80 msec.\n", + " definition of HP:0012000 (EEG with generalized spikes)\n", + " \n", + " \n", + " #EEG with generalised spikes\n", + " definition of HP:0012000 (EEG with generalized spikes)\n", + " \n", + " \n", + " Acephalic spermatozoa\n", + " definition of HP:0012869 (Acephalic spermatozoa)\n", + " \n", + " \n", + " Spermatozoa with very small cranial ends devoid of any nuclear material, that is, lacking a typical sperm head.\n", + " definition of HP:0012869 (Acephalic spermatozoa)\n", + " \n", + " \n", + " Testicular adrenal rest tumor\n", + " definition of HP:0025451 (Testicular adrenal rest tumor)\n", + " \n", + " \n", + " Testicular adrenal rest tumor (TART) is a abenign tumor of the testis. TART generally occurs multiply and bilaterally within the rete testis. Histologically, TART resemble adrenocortical tissue, which led to the name. The tumous are not encapsulated and consist of sheets or confluent cords of large polygonal cells with abundant eosinophilic cytoplasm.\n", + " definition of HP:0025451 (Testicular adrenal rest tumor)\n", + " \n", + " \n", + " #Testicular adrenal rest tumour\n", + " definition of HP:0025451 (Testicular adrenal rest tumor)\n", + " \n", + " \n", + " Reduced prothrombin antigen\n", + " definition of HP:0040250 (Reduced prothrombin antigen)\n", + " \n", + " \n", + " Reduced prothrombin antigen as measured by ELISA assay. Prothrombin is a vitamin K-dependent coagulation factor that is proteolytically cleaved to form thrombin.\n", + " definition of HP:0040250 (Reduced prothrombin antigen)\n", + " \n", + " \n", + " Elevated brain guanidinoacetate level by MRS\n", + " definition of HP:6000484 (Elevated brain guanidinoacetate level by MRS)\n", + " \n", + " \n", + " An increase in the level of guanidinoacetate in the brain identified by magnetic resonance spectroscopy (MRS).\n", + " definition of HP:6000484 (Elevated brain guanidinoacetate level by MRS)\n", + " \n", + " \n", + " Reduced tissue phosphomannomutase activity\n", + " definition of HP:6000781 (Reduced tissue phosphomannomutase activity)\n", + " \n", + " \n", + " Activity of the enzyme phosphomannomutase (EC 5.4.2.8) in tissues below the lower limit of normal. The activity can be measured in multiple tissues including leukocytes, fibroblasts, and liver.\n", + " definition of HP:6000781 (Reduced tissue phosphomannomutase activity)\n", + " \n", + " \n", + " Abnormal hair quantity\n", + " definition of HP:0011362 (Abnormal hair quantity)\n", + " \n", + " \n", + " An abnormal amount of hair.\n", + " definition of HP:0011362 (Abnormal hair quantity)\n", + " \n", + " \n", + " #Abnormal hair quantity #Abnormality of hair density\n", + " definition of HP:0011362 (Abnormal hair quantity)\n", + " \n", + " \n", + " Abnormality of the abdominal organs\n", + " definition of HP:0002012 (Abnormality of the abdominal organs)\n", + " \n", + " \n", + " An abnormality of the viscera of the abdomen.\n", + " definition of HP:0002012 (Abnormality of the abdominal organs)\n", + " \n", + " \n", + " #Abnormality of the abdominal organs #Gastrointestinal tract defects\n", + " definition of HP:0002012 (Abnormality of the abdominal organs)\n", + " \n", + " \n", + " Unilateral alveolar cleft of maxilla\n", + " definition of HP:0410033 (Unilateral alveolar cleft of maxilla)\n", + " \n", + " \n", + " One sided alveolar cleft of the maxilla.\n", + " definition of HP:0410033 (Unilateral alveolar cleft of maxilla)\n", + " \n", + " \n", + " Hemimegalencephaly\n", + " definition of HP:0007206 (Hemimegalencephaly)\n", + " \n", + " \n", + " Enlargement of all or parts of one cerebral hemisphere.\n", + " definition of HP:0007206 (Hemimegalencephaly)\n", + " \n", + " \n", + " Vaginal bleeding during sex\n", + " definition of HP:0034266 (Vaginal bleeding during sex)\n", + " \n", + " \n", + " Bleeding during sex.\n", + " definition of HP:0034266 (Vaginal bleeding during sex)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the middle phalanx of the 3rd toe\n", + " definition of HP:0100372 (Aplasia/Hypoplasia of the middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Absent/small middle 3rd toe bone #Absent/underdeveloped middle 3rd toe bone\n", + " definition of HP:0100372 (Aplasia/Hypoplasia of the middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " Abnormal pulmonary valve morphology\n", + " definition of HP:0001641 (Abnormal pulmonary valve morphology)\n", + " \n", + " \n", + " Any structural abnormality of the pulmonary valve.\n", + " definition of HP:0001641 (Abnormal pulmonary valve morphology)\n", + " \n", + " \n", + " #Abnormality of the pulmonary valve #Anomaly of the pulmonary valve\n", + " definition of HP:0001641 (Abnormal pulmonary valve morphology)\n", + " \n", + " \n", + " Abnormal myocardium morphology\n", + " definition of HP:0001637 (Abnormal myocardium morphology)\n", + " \n", + " \n", + " A structural anomaly of the muscle layer of the heart wall.\n", + " definition of HP:0001637 (Abnormal myocardium morphology)\n", + " \n", + " \n", + " #Abnormality of the myocardium\n", + " definition of HP:0001637 (Abnormal myocardium morphology)\n", + " \n", + " \n", + " Focal aware orofacial automatism seizure\n", + " definition of HP:0032911 (Focal aware orofacial automatism seizure)\n", + " \n", + " \n", + " A type of focal automatism seizure characterized by orofacial automatisms at onset and during which awareness is fully retained throughout.\n", + " definition of HP:0032911 (Focal aware orofacial automatism seizure)\n", + " \n", + " \n", + " Abnormal male reproductive system physiology\n", + " definition of HP:0012874 (Abnormal male reproductive system physiology)\n", + " \n", + " \n", + " An abnormal functionality of the male genital system.\n", + " definition of HP:0012874 (Abnormal male reproductive system physiology)\n", + " \n", + " \n", + " Decreased circulating total IgA\n", + " definition of HP:0003460 (Decreased circulating total IgA)\n", + " \n", + " \n", + " Undetectable serum immunoglobulin A level at a value < 5 mg/dL (0.05 g/L).\n", + " definition of HP:0003460 (Decreased circulating total IgA)\n", + " \n", + " \n", + " #Decreased total IgA in blood #Total immunoglobulin A deficiency\n", + " definition of HP:0003460 (Decreased circulating total IgA)\n", + " \n", + " \n", + " Abnormal serum estrone\n", + " definition of HP:0025138 (Abnormal serum estrone)\n", + " \n", + " \n", + " A deviation from the normal concentration of circulating estrone.\n", + " definition of HP:0025138 (Abnormal serum estrone)\n", + " \n", + " \n", + " Typified by complete penetrance\n", + " definition of HP:0034950 (Typified by complete penetrance)\n", + " \n", + " \n", + " Penetrance describes the proportion of genotype positive individuals that develop disease given a lifespan of 80 years. For example, penetrance of Neurofibromatosis type 1 is close to 100%.\n", + " definition of HP:0034950 (Typified by complete penetrance)\n", + " \n", + " \n", + " Abnormal urine cytology\n", + " definition of HP:0012614 (Abnormal urine cytology)\n", + " \n", + " \n", + " An anomalous finding in the examination of the urine for cells.\n", + " definition of HP:0012614 (Abnormal urine cytology)\n", + " \n", + " \n", + " Distal foot symphalangism\n", + " definition of HP:0001859 (Distal foot symphalangism)\n", + " \n", + " \n", + " Abnormal metatarsal epiphysis morphology\n", + " definition of HP:0010630 (Abnormal metatarsal epiphysis morphology)\n", + " \n", + " \n", + " Any abnormality of a metatarsal bone epiphysis.\n", + " definition of HP:0010630 (Abnormal metatarsal epiphysis morphology)\n", + " \n", + " \n", + " #Abnormality of end part of long bone of foot #Abnormality of metatarsal epiphysis #Abnormality of the epiphyses of the metatarsals\n", + " definition of HP:0010630 (Abnormal metatarsal epiphysis morphology)\n", + " \n", + " \n", + " Basal ganglia calcification\n", + " definition of HP:0002135 (Basal ganglia calcification)\n", + " \n", + " \n", + " The presence of calcium deposition affecting one or more structures of the basal ganglia.\n", + " definition of HP:0002135 (Basal ganglia calcification)\n", + " \n", + " \n", + " #Basal ganglia calcifications #Basal ganglion calcification #Calcification of the basal ganglia\n", + " definition of HP:0002135 (Basal ganglia calcification)\n", + " \n", + " \n", + " Atypical absence status epilepticus\n", + " definition of HP:0011151 (Atypical absence status epilepticus)\n", + " \n", + " \n", + " Atypical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged atypical absence seizure.\n", + " definition of HP:0011151 (Atypical absence status epilepticus)\n", + " \n", + " \n", + " #Obtundation status\n", + " definition of HP:0011151 (Atypical absence status epilepticus)\n", + " \n", + " \n", + " Reduced phytanic acid oxidase activity in cultured fibroblasts\n", + " definition of HP:4000163 (Reduced phytanic acid oxidase activity in cultured fibroblasts)\n", + " \n", + " \n", + " Activity of the enzyme phytanoyl-CoA hydroxylase (PhyH; EC 1.14.11.18) below the lower limit of normal in cultured fibroblasts. PhyH plays a role in the catabolism of phytanic acid, a branched-chain fatty acid that is a normal constituent of the human diet.\n", + " definition of HP:4000163 (Reduced phytanic acid oxidase activity in cultured fibroblasts)\n", + " \n", + " \n", + " #Decreased phytanoyl-CoA hydroxylase activity #PhyH activity low in fibroblasts\n", + " definition of HP:4000163 (Reduced phytanic acid oxidase activity in cultured fibroblasts)\n", + " \n", + " \n", + " Visceral hemangioma\n", + " definition of HP:0410266 (Visceral hemangioma)\n", + " \n", + " \n", + " A hemangioma arising from within visceral structures, the internal organs of the body.\n", + " definition of HP:0410266 (Visceral hemangioma)\n", + " \n", + " \n", + " Persistence of hemoglobin F\n", + " definition of HP:0011904 (Persistence of hemoglobin F)\n", + " \n", + " \n", + " Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent.\n", + " definition of HP:0011904 (Persistence of hemoglobin F)\n", + " \n", + " \n", + " #Increased haemoglobin F #Increased hemoglobin F #Persistence of haemoglobin F #Persistence of HbF\n", + " definition of HP:0011904 (Persistence of hemoglobin F)\n", + " \n", + " \n", + " Stippling of the epiphyses of the 4th finger\n", + " definition of HP:0009402 (Stippling of the epiphyses of the 4th finger)\n", + " \n", + " \n", + " The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th finger.\n", + " definition of HP:0009402 (Stippling of the epiphyses of the 4th finger)\n", + " \n", + " \n", + " #Speckled calcifications in end part of ring finger bone\n", + " definition of HP:0009402 (Stippling of the epiphyses of the 4th finger)\n", + " \n", + " \n", + " Expanded terminal portion of crus of helix\n", + " definition of HP:0011259 (Expanded terminal portion of crus of helix)\n", + " \n", + " \n", + " Widening, rather than tapering, of the crus at its posterior border near the antihelix.\n", + " definition of HP:0011259 (Expanded terminal portion of crus of helix)\n", + " \n", + " \n", + " #Helix, crus, expanded terminal portion\n", + " definition of HP:0011259 (Expanded terminal portion of crus of helix)\n", + " \n", + " \n", + " Pilonidal fistula\n", + " definition of HP:0010770 (Pilonidal fistula)\n", + " \n", + " \n", + " Decreased circulating nicotinamide adenine dinucleotide concentration\n", + " definition of HP:6000405 (Decreased circulating nicotinamide adenine dinucleotide concentration)\n", + " \n", + " \n", + " The concentration of nicotinamide adenine dinucleotide in the blood circulation is below the lower limit of normal.\n", + " definition of HP:6000405 (Decreased circulating nicotinamide adenine dinucleotide concentration)\n", + " \n", + " \n", + " Abnormality of the brachial nerve plexus\n", + " definition of HP:0045052 (Abnormality of the brachial nerve plexus)\n", + " \n", + " \n", + " Any abnormality of the brachial nerve plexus.\n", + " definition of HP:0045052 (Abnormality of the brachial nerve plexus)\n", + " \n", + " \n", + " Retinoschisis\n", + " definition of HP:0030502 (Retinoschisis)\n", + " \n", + " \n", + " Splitting of the neuroretinal layers of the retina.\n", + " definition of HP:0030502 (Retinoschisis)\n", + " \n", + " \n", + " Abnormal nail morphology\n", + " definition of HP:0001597 (Abnormal nail morphology)\n", + " \n", + " \n", + " Abnormal structure or appearance of the nail.\n", + " definition of HP:0001597 (Abnormal nail morphology)\n", + " \n", + " \n", + " #Abnormality of the nail\n", + " definition of HP:0001597 (Abnormal nail morphology)\n", + " \n", + " \n", + " Nevus roseus\n", + " definition of HP:0025106 (Nevus roseus)\n", + " \n", + " \n", + " A variant of port-wine stain characterized by a pale red or even pink tone, in contrast to the darker hue of the port-wine stain. By analogy with the term port-wine stain, this variant rose-wine stain, or nevus roseus. Nevus roseus, however, cannot be definitely diagnosed until adulthood as port-wine stains are sometimes pink in children. While the natural history of port-wine stains includes hypertrophy, darkening, and nodularity, nevus roseus remains unchanged for life.\n", + " definition of HP:0025106 (Nevus roseus)\n", + " \n", + " \n", + " Subcutaneous lipoma\n", + " definition of HP:0001031 (Subcutaneous lipoma)\n", + " \n", + " \n", + " The presence of subcutaneous lipoma.\n", + " definition of HP:0001031 (Subcutaneous lipoma)\n", + " \n", + " \n", + " Persistent left superior vena cava\n", + " definition of HP:0005301 (Persistent left superior vena cava)\n", + " \n", + " \n", + " A rare congenital vascular anomaly that results when the left superior cardinal vein caudal to the innominate vein fails to regress.\n", + " definition of HP:0005301 (Persistent left superior vena cava)\n", + " \n", + " \n", + " #PLSVC\n", + " definition of HP:0005301 (Persistent left superior vena cava)\n", + " \n", + " \n", + " Unroofed coronary sinus\n", + " definition of HP:0031297 (Unroofed coronary sinus)\n", + " \n", + " \n", + " Unroofed coronary sinus (CS) is a rare congenital cardiac anomaly in which there is partial (either focal or fenestrated) or complete absence of the roof of the CS, which results in a communication between the CS and the LA. Unroofed CS is the rarest type of atrial septal defect. It is often associated with persistent left superior vena cava (LSVC) and other forms of complex congenital heart disease, usually heterotaxia syndromes. The morphological types have been classified into 4 groups: Type I, completely unroofed with persistent LSVC; type II, completely unroofed without persistent LSVC; type III, partially unroofed mid portion; and type IV, partially unroofed terminal portion.\n", + " definition of HP:0031297 (Unroofed coronary sinus)\n", + " \n", + " \n", + " Renal cortical hypoechogeneity\n", + " definition of HP:0033133 (Renal cortical hypoechogeneity)\n", + " \n", + " \n", + " #Hypoechogenic renal cortex\n", + " definition of HP:0033133 (Renal cortical hypoechogeneity)\n", + " \n", + " \n", + " Unilateral lung agenesis\n", + " definition of HP:0030707 (Unilateral lung agenesis)\n", + " \n", + " \n", + " Lack of development of one lung.\n", + " definition of HP:0030707 (Unilateral lung agenesis)\n", + " \n", + " \n", + " #Unilateral pulmonary agenesis\n", + " definition of HP:0030707 (Unilateral lung agenesis)\n", + " \n", + " \n", + " Abnormal eyebrow morphology\n", + " definition of HP:0000534 (Abnormal eyebrow morphology)\n", + " \n", + " \n", + " An abnormality of the eyebrow.\n", + " definition of HP:0000534 (Abnormal eyebrow morphology)\n", + " \n", + " \n", + " #Abnormality of the eyebrow\n", + " definition of HP:0000534 (Abnormal eyebrow morphology)\n", + " \n", + " \n", + " Acromesomelia\n", + " definition of HP:0003086 (Acromesomelia)\n", + " \n", + " \n", + " Small hands and feet.\n", + " definition of HP:0003086 (Acromesomelia)\n", + " \n", + " \n", + " Hyperlysinuria\n", + " definition of HP:0003297 (Hyperlysinuria)\n", + " \n", + " \n", + " An increased concentration of lysine in the urine.\n", + " definition of HP:0003297 (Hyperlysinuria)\n", + " \n", + " \n", + " #High urine lysine levels #Lysinuria\n", + " definition of HP:0003297 (Hyperlysinuria)\n", + " \n", + " \n", + " Microlissencephaly\n", + " definition of HP:0045028 (Microlissencephaly)\n", + " \n", + " \n", + " Severe microcephaly and lissencephaly with granular surfaces with immature cortical plate, reduced in thickness, with focal polymicrogyria and immature small neurons with rare processes, intermingled with a considerable number of glial elements.\n", + " definition of HP:0045028 (Microlissencephaly)\n", + " \n", + " \n", + " #Lissencephaly type III #Type 3 lissencephaly #Type III lissencephaly\n", + " definition of HP:0045028 (Microlissencephaly)\n", + " \n", + " \n", + " Abnormal geniohyoid muscle morphology\n", + " definition of HP:3000046 (Abnormal geniohyoid muscle morphology)\n", + " \n", + " \n", + " An abnormality of a geniohyoid muscle.\n", + " definition of HP:3000046 (Abnormal geniohyoid muscle morphology)\n", + " \n", + " \n", + " Nonprogressive cerebellar ataxia\n", + " definition of HP:0002470 (Nonprogressive cerebellar ataxia)\n", + " \n", + " \n", + " Elevated urinary monocarboxylic acid level\n", + " definition of HP:0033303 (Elevated urinary monocarboxylic acid level)\n", + " \n", + " \n", + " Abnormally increased amount of a monocarboxylic acid in the urine. Monocarboxylic acids are molecules with one COOH functional group.\n", + " definition of HP:0033303 (Elevated urinary monocarboxylic acid level)\n", + " \n", + " \n", + " Preretinal hemorrhage\n", + " definition of HP:0025240 (Preretinal hemorrhage)\n", + " \n", + " \n", + " An accumulation of blood between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation.\n", + " definition of HP:0025240 (Preretinal hemorrhage)\n", + " \n", + " \n", + " #Preretinal haemorrhage #Preretinal heme\n", + " definition of HP:0025240 (Preretinal hemorrhage)\n", + " \n", + " \n", + " Midline hand movements\n", + " definition of HP:5200009 (Midline hand movements)\n", + " \n", + " \n", + " Hand stereotypies within the medial plane of the body.\n", + " definition of HP:5200009 (Midline hand movements)\n", + " \n", + " \n", + " Skeletal muscle hyperechogenicity\n", + " definition of HP:0025718 (Skeletal muscle hyperechogenicity)\n", + " \n", + " \n", + " An increased echo intensity of muscle tissue on sonography, defined as an increased amount of returning echoes per square area of muscle tissue. On cross-section, normal muscle appears as a relatively anechoic structure with hyperechoic speckles within the tissue representing perimysial septa, giving it a starry night appearance. The boundaries of each muscle are delineated by the presence of hyperechoic fascia. In muscle disorders, one of the hallmark findings is replacement of healthy muscle with fat and fibrosis, manifested by an increase in echogenicity from higher sound transitions in the muscle. This increase in echogenicity is most distinct in conditions that lead to chronic pathology, such as long-standing muscle inflammation, dystrophy, or denervation.\n", + " definition of HP:0025718 (Skeletal muscle hyperechogenicity)\n", + " \n", + " \n", + " #Hyperechoic muscle #Muscle ultrasound hyperechogenicity\n", + " definition of HP:0025718 (Skeletal muscle hyperechogenicity)\n", + " \n", + " \n", + " Hydroureter\n", + " definition of HP:0000072 (Hydroureter)\n", + " \n", + " \n", + " The distention of the ureter with urine.\n", + " definition of HP:0000072 (Hydroureter)\n", + " \n", + " \n", + " #Dilated ureter #Megaureter #Swelling of ureter #Ureteral dilatation #Wide ureter\n", + " definition of HP:0000072 (Hydroureter)\n", + " \n", + " \n", + " Parotid adenoma\n", + " definition of HP:6000862 (Parotid adenoma)\n", + " \n", + " \n", + " A benign tumor of the parotid salivary gland.\n", + " definition of HP:6000862 (Parotid adenoma)\n", + " \n", + " \n", + " Elevated circulating parathyroid hormone level\n", + " definition of HP:0003165 (Elevated circulating parathyroid hormone level)\n", + " \n", + " \n", + " An abnormal increased concentration of parathyroid hormone.\n", + " definition of HP:0003165 (Elevated circulating parathyroid hormone level)\n", + " \n", + " \n", + " #Elevated circulating PTH level #Elevated serum parathyroid hormone #Elevated serum parathyroid hormone level #Elevated serum pth #Increased serum parathyroid hormone\n", + " definition of HP:0003165 (Elevated circulating parathyroid hormone level)\n", + " \n", + " \n", + " Angioid streaks of the fundus\n", + " definition of HP:0001102 (Angioid streaks of the fundus)\n", + " \n", + " \n", + " Irregular lines in the deep retina that are typically configured in a radiating fashion and emanate from the optic disc. Angioid streaks are crack-like dehiscences in abnormally thickened and calcified Bruch's membrane, resulting in atrophy of the overlying retinal pigment epithelium. They may be associated with a number of endocrine, metabolic, and connective tissue abnormalities but are frequently idiopathic.\n", + " definition of HP:0001102 (Angioid streaks of the fundus)\n", + " \n", + " \n", + " #Angioid streaks #Angioid streaks of the retina #Angioid streaks, retina #Knapp streaks #Laquer cracks of the retina\n", + " definition of HP:0001102 (Angioid streaks of the fundus)\n", + " \n", + " \n", + " Hyperostosis frontalis interna\n", + " definition of HP:0004438 (Hyperostosis frontalis interna)\n", + " \n", + " \n", + " Bony overgrowth of the internal (endosteal) surface of the frontal bone.\n", + " definition of HP:0004438 (Hyperostosis frontalis interna)\n", + " \n", + " \n", + " #Excessive growth of inner surface of the frontal bone #Hyperostosis of the internal surface of the frontal bone #Overgrowth of the inner surface of the frontal bone\n", + " definition of HP:0004438 (Hyperostosis frontalis interna)\n", + " \n", + " \n", + " Self-healing squamous epithelioma\n", + " definition of HP:0034720 (Self-healing squamous epithelioma)\n", + " \n", + " \n", + " A type of skin tumor that initially presents as a reddish macule and subsequently becomes papular, enlarged, ulcerated and ultimately heals leaving pitted scars.\n", + " definition of HP:0034720 (Self-healing squamous epithelioma)\n", + " \n", + " \n", + " Longitudinal erythronychia\n", + " definition of HP:6001074 (Longitudinal erythronychia)\n", + " \n", + " \n", + " A longitudinal red band extending from the proximal nail fold or lunula to the distal nail plate.\n", + " definition of HP:6001074 (Longitudinal erythronychia)\n", + " \n", + " \n", + " Patchy sclerosis of the proximal phalanx of the 2nd finger\n", + " definition of HP:0009585 (Patchy sclerosis of the proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Uneven (irregular) increase in bone density of the proximal phalanx of the second finger.\n", + " definition of HP:0009585 (Patchy sclerosis of the proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Uneven increase in bone density in innermost index finger bone\n", + " definition of HP:0009585 (Patchy sclerosis of the proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Abnormality of the upper arm\n", + " definition of HP:0001454 (Abnormality of the upper arm)\n", + " \n", + " \n", + " Abnormal peripheral nervous system morphology\n", + " definition of HP:0000759 (Abnormal peripheral nervous system morphology)\n", + " \n", + " \n", + " A structural abnormality of the peripheral nervous system, which is composed of the nerves that lead to or branch off from the central nervous system. This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system).\n", + " definition of HP:0000759 (Abnormal peripheral nervous system morphology)\n", + " \n", + " \n", + " #Abnormal peripheral nervous system structure\n", + " definition of HP:0000759 (Abnormal peripheral nervous system morphology)\n", + " \n", + " \n", + " Multiple central nervous system lipomas\n", + " definition of HP:0100251 (Multiple central nervous system lipomas)\n", + " \n", + " \n", + " The presence of multiple lipomas located in the central nervous system.\n", + " definition of HP:0100251 (Multiple central nervous system lipomas)\n", + " \n", + " \n", + " #Lipomas of the central nervous system\n", + " definition of HP:0100251 (Multiple central nervous system lipomas)\n", + " \n", + " \n", + " Megalopapilla\n", + " definition of HP:0034302 (Megalopapilla)\n", + " \n", + " \n", + " A congenitally anomalous enlarged optic disc (surface area greater than 2.50 square millimeters). It is considered to be a normal variant without physiological defects.\n", + " definition of HP:0034302 (Megalopapilla)\n", + " \n", + " \n", + " Fibular deviation of the 2nd toe\n", + " definition of HP:0100344 (Fibular deviation of the 2nd toe)\n", + " \n", + " \n", + " Heterotaxy\n", + " definition of HP:0030853 (Heterotaxy)\n", + " \n", + " \n", + " An abnormality in which the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body.\n", + " definition of HP:0030853 (Heterotaxy)\n", + " \n", + " \n", + " #Heterotaxia\n", + " definition of HP:0030853 (Heterotaxy)\n", + " \n", + " \n", + " Elevated circulating 4-hydroxybutyric acid concentration\n", + " definition of HP:6000991 (Elevated circulating 4-hydroxybutyric acid concentration)\n", + " \n", + " \n", + " Concentration of 4-hydroxybutyric acid in the blood circulation above the upper limit of normal.\n", + " definition of HP:6000991 (Elevated circulating 4-hydroxybutyric acid concentration)\n", + " \n", + " \n", + " Elevated functional residual capacity\n", + " definition of HP:0033751 (Elevated functional residual capacity)\n", + " \n", + " \n", + " An abnormal increase in the volume remaining in the lungs after a normal, passive exhalation.\n", + " definition of HP:0033751 (Elevated functional residual capacity)\n", + " \n", + " \n", + " Mosaic corneal dystrophy\n", + " definition of HP:0007836 (Mosaic corneal dystrophy)\n", + " \n", + " \n", + " Cerebral cortical microinfarct\n", + " definition of HP:0025714 (Cerebral cortical microinfarct)\n", + " \n", + " \n", + " An infarct located on the outer layer of the cerebrum that can only be observed microscopically. Cerebral microinfarcts are typically defined as sharply delimited microscopic regions of cellular death or tissue necrosis, sometimes with cavitation (that is, a central fluid-filled cavity). The term microscopic denotes that these lesions are not visible by gross inspection of the brain but seen by light microscopy. The term infarct is most commonly used for ischemia-related tissue loss, and indeed the pathologic appearance of microinfarcts is consistent with that of known ischemic infarctions.\n", + " definition of HP:0025714 (Cerebral cortical microinfarct)\n", + " \n", + " \n", + " Triggered by cheese ingestion\n", + " definition of HP:0033789 (Triggered by cheese ingestion)\n", + " \n", + " \n", + " Applies to a sign or symptom that is provoked or brought about by eating cheese.\n", + " definition of HP:0033789 (Triggered by cheese ingestion)\n", + " \n", + " \n", + " Annular pancreas\n", + " definition of HP:0001734 (Annular pancreas)\n", + " \n", + " \n", + " A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum.\n", + " definition of HP:0001734 (Annular pancreas)\n", + " \n", + " \n", + " Subsarcolemmal accumulations of abnormally shaped mitochondria\n", + " definition of HP:0003548 (Subsarcolemmal accumulations of abnormally shaped mitochondria)\n", + " \n", + " \n", + " An abnormally increased number of mitochondria in the cytoplasma adjacent to the sarcolemma (muscle cell membrane), whereby the mitochondria also possess an abnormal morphology.\n", + " definition of HP:0003548 (Subsarcolemmal accumulations of abnormally shaped mitochondria)\n", + " \n", + " \n", + " Left unicoronal synostosis\n", + " definition of HP:0011316 (Left unicoronal synostosis)\n", + " \n", + " \n", + " Synostosis affecting only the left coronal suture.\n", + " definition of HP:0011316 (Left unicoronal synostosis)\n", + " \n", + " \n", + " Testicular seminoma\n", + " definition of HP:0100617 (Testicular seminoma)\n", + " \n", + " \n", + " The presence of a seminoma, an undifferentiated germ cell tumor of the testis.\n", + " definition of HP:0100617 (Testicular seminoma)\n", + " \n", + " \n", + " Single umbilical artery\n", + " definition of HP:0001195 (Single umbilical artery)\n", + " \n", + " \n", + " Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord.\n", + " definition of HP:0001195 (Single umbilical artery)\n", + " \n", + " \n", + " #2 vessel cord #2 vessel umbilical cord #Only one artery in umbilical cord instead of two #Two vessel cord #Two vessel umbilical cord #Two-vessel cord\n", + " definition of HP:0001195 (Single umbilical artery)\n", + " \n", + " \n", + " Abnormality of inferior rectus extraocular muscle\n", + " definition of HP:3000058 (Abnormality of inferior rectus extraocular muscle)\n", + " \n", + " \n", + " An abnormality of an inferior rectus extraocular muscle.\n", + " definition of HP:3000058 (Abnormality of inferior rectus extraocular muscle)\n", + " \n", + " \n", + " Abnormal subarachnoid space morphology\n", + " definition of HP:0012703 (Abnormal subarachnoid space morphology)\n", + " \n", + " \n", + " Abnormality in the space in the meninges beneath the arachnoid membrane and above the pia mater that contains the cerebrospinal fluid.\n", + " definition of HP:0012703 (Abnormal subarachnoid space morphology)\n", + " \n", + " \n", + " #Abnormality of the subarachnoid space\n", + " definition of HP:0012703 (Abnormal subarachnoid space morphology)\n", + " \n", + " \n", + " Aplasia of the 5th finger\n", + " definition of HP:0009238 (Aplasia of the 5th finger)\n", + " \n", + " \n", + " Absent 5th (little) finger.\n", + " definition of HP:0009238 (Aplasia of the 5th finger)\n", + " \n", + " \n", + " #Absent little finger #Absent pinkie finger #Absent pinky finger\n", + " definition of HP:0009238 (Aplasia of the 5th finger)\n", + " \n", + " \n", + " Short proximal phalanx of the 3rd toe\n", + " definition of HP:0100395 (Short proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Abnormal reduction in length of proximal phalanx of third toe.\n", + " definition of HP:0100395 (Short proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Hypoplastic/small proximal phalanx of the 3rd toe #Short proximal phalanx of the third toe\n", + " definition of HP:0100395 (Short proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Abnormal circulating amylase concentration\n", + " definition of HP:0410282 (Abnormal circulating amylase concentration)\n", + " \n", + " \n", + " A deviation from the normal concentration of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands.\n", + " definition of HP:0410282 (Abnormal circulating amylase concentration)\n", + " \n", + " \n", + " #Abnormal circulating amylase level\n", + " definition of HP:0410282 (Abnormal circulating amylase concentration)\n", + " \n", + " \n", + " Interdigital loops\n", + " definition of HP:0100888 (Interdigital loops)\n", + " \n", + " \n", + " EEG with abnormally slow frequencies\n", + " definition of HP:0011203 (EEG with abnormally slow frequencies)\n", + " \n", + " \n", + " EEG with abnormally slow frequencies.\n", + " definition of HP:0011203 (EEG with abnormally slow frequencies)\n", + " \n", + " \n", + " Happy demeanor\n", + " definition of HP:0040082 (Happy demeanor)\n", + " \n", + " \n", + " A conspicuously happy disposition, characterized by frequent smiling and laughing, which may be contextually inappropriate or unrelated to the situation.\n", + " definition of HP:0040082 (Happy demeanor)\n", + " \n", + " \n", + " #Happy demeanor #Happy demeanour\n", + " definition of HP:0040082 (Happy demeanor)\n", + " \n", + " \n", + " Abnormal vertebral morphology\n", + " definition of HP:0003468 (Abnormal vertebral morphology)\n", + " \n", + " \n", + " An abnormality of one or more of the vertebrae.\n", + " definition of HP:0003468 (Abnormal vertebral morphology)\n", + " \n", + " \n", + " #Abnormal vertebrae #Abnormality of the vertebrae #Vertebral anomalies\n", + " definition of HP:0003468 (Abnormal vertebral morphology)\n", + " \n", + " \n", + " Radial deviation of the 2nd finger\n", + " definition of HP:0009467 (Radial deviation of the 2nd finger)\n", + " \n", + " \n", + " Displacement of the 2nd finger towards the radial side.\n", + " definition of HP:0009467 (Radial deviation of the 2nd finger)\n", + " \n", + " \n", + " #Radially deviated index finger\n", + " definition of HP:0009467 (Radial deviation of the 2nd finger)\n", + " \n", + " \n", + " 5-minute APGAR score of 4\n", + " definition of HP:0030924 (5-minute APGAR score of 4)\n", + " \n", + " \n", + " Atresia of the external auditory canal\n", + " definition of HP:0000413 (Atresia of the external auditory canal)\n", + " \n", + " \n", + " Absence or failure to form of the external auditory canal.\n", + " definition of HP:0000413 (Atresia of the external auditory canal)\n", + " \n", + " \n", + " #Absent auditory canals #Absent ear canal #Absent external auditory canals #Atretic auditory canal #Atretic auditory canals #Atretic external auditory canal #Atretic external auditory canals #Auditory canal atresia #External acoustic meatus atresia #External auditory canal atresia #External auditory meatal atresia #External auditory meatus atresia\n", + " definition of HP:0000413 (Atresia of the external auditory canal)\n", + " \n", + " \n", + " Reduced tissue UDP-glucuronyl-transferase activity\n", + " definition of HP:6000617 (Reduced tissue UDP-glucuronyl-transferase activity)\n", + " \n", + " \n", + " Concentration or activity of uridine diphosphate glucuronosyltransferase below the lower limit of normal. The activity of this enzyme can be measured in liver and rarely in other tissues.\n", + " definition of HP:6000617 (Reduced tissue UDP-glucuronyl-transferase activity)\n", + " \n", + " \n", + " #Reduced liver uridine diphosphate glucuronosyltransferase activity #Reduced tissue uridine diphosphate glucuronosyltransferase activity\n", + " definition of HP:6000617 (Reduced tissue UDP-glucuronyl-transferase activity)\n", + " \n", + " \n", + " Abnormal lymph node cell composition\n", + " definition of HP:0034582 (Abnormal lymph node cell composition)\n", + " \n", + " \n", + " A deviation from the normal distribution of cell types or their relative proportions in a lymph node.\n", + " definition of HP:0034582 (Abnormal lymph node cell composition)\n", + " \n", + " \n", + " Pancreatic lymphangiectasis\n", + " definition of HP:0006273 (Pancreatic lymphangiectasis)\n", + " \n", + " \n", + " The presence of lymphangiectasis in the pancreas.\n", + " definition of HP:0006273 (Pancreatic lymphangiectasis)\n", + " \n", + " \n", + " Colonic arteriovenous malformation\n", + " definition of HP:0031345 (Colonic arteriovenous malformation)\n", + " \n", + " \n", + " An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the colon.\n", + " definition of HP:0031345 (Colonic arteriovenous malformation)\n", + " \n", + " \n", + " Skip lesions on temporal artery biopsy\n", + " definition of HP:0430105 (Skip lesions on temporal artery biopsy)\n", + " \n", + " \n", + " Patchy inflammation of the superficial temporal artery, forming isolated foci of arteritis.\n", + " definition of HP:0430105 (Skip lesions on temporal artery biopsy)\n", + " \n", + " \n", + " Cataract\n", + " definition of HP:0000518 (Cataract)\n", + " \n", + " \n", + " A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.\n", + " definition of HP:0000518 (Cataract)\n", + " \n", + " \n", + " #Cataracts #Clouding of the lens of the eye #Cloudy lens #Lens opacities #Lens opacity\n", + " definition of HP:0000518 (Cataract)\n", + " \n", + " \n", + " Absent crus of helix\n", + " definition of HP:0011255 (Absent crus of helix)\n", + " \n", + " \n", + " Continuum between the tragus and ascending helix, without any evidence of a posterior extension (crus) towards the concha.\n", + " definition of HP:0011255 (Absent crus of helix)\n", + " \n", + " \n", + " #Helix, crus, absent\n", + " definition of HP:0011255 (Absent crus of helix)\n", + " \n", + " \n", + " Duplicated odontoid process\n", + " definition of HP:0025374 (Duplicated odontoid process)\n", + " \n", + " \n", + " The presence of two distinct odontoid processes. The odontoid process, also known as the dens of the axis, is a protuberance of the C2 vertebral body around which the first vertebra rotates.\n", + " definition of HP:0025374 (Duplicated odontoid process)\n", + " \n", + " \n", + " Sleep-wake inversion\n", + " definition of HP:0031849 (Sleep-wake inversion)\n", + " \n", + " \n", + " A reversal of sleeping habits, with a tendency to sleep during the day and be awake at night.\n", + " definition of HP:0031849 (Sleep-wake inversion)\n", + " \n", + " \n", + " #Inverted sleep-wake cycle #Reversed sleep-wake cycle #Sleep rhythm inversion\n", + " definition of HP:0031849 (Sleep-wake inversion)\n", + " \n", + " \n", + " Elevated circulating carnitine concentration\n", + " definition of HP:0035030 (Elevated circulating carnitine concentration)\n", + " \n", + " \n", + " Concentration of carnitine in the blood circulation above the upper limit of normal.\n", + " definition of HP:0035030 (Elevated circulating carnitine concentration)\n", + " \n", + " \n", + " Tapered toe\n", + " definition of HP:0011309 (Tapered toe)\n", + " \n", + " \n", + " The gradual reduction in girth of the toe from proximal to distal.\n", + " definition of HP:0011309 (Tapered toe)\n", + " \n", + " \n", + " #Tapered toe #Tapering toes\n", + " definition of HP:0011309 (Tapered toe)\n", + " \n", + " \n", + " Short telomere length\n", + " definition of HP:0031413 (Short telomere length)\n", + " \n", + " \n", + " An abnormal reduction in telomere length. Telomeres are non-coding, repetitive sequences of DNA at the ends of the chromosomes of eukaryotic cells which become shorter as cells divide, and when telomere attrition reaches its limit, cell proliferation arrest, senescence, and apoptosis can occur.\n", + " definition of HP:0031413 (Short telomere length)\n", + " \n", + " \n", + " Decreased incisura length\n", + " definition of HP:0031230 (Decreased incisura length)\n", + " \n", + " \n", + " The length of the incisura from the upper to lower border is less than that observed in the average population.\n", + " definition of HP:0031230 (Decreased incisura length)\n", + " \n", + " \n", + " Interlobular vein medial atrophy\n", + " definition of HP:0033972 (Interlobular vein medial atrophy)\n", + " \n", + " \n", + " Atrophy (wasting, decreased thickness) of the medial layer pf the interlobular veins of the kidney.\n", + " definition of HP:0033972 (Interlobular vein medial atrophy)\n", + " \n", + " \n", + " #Medial atrophy within interlobular veins\n", + " definition of HP:0033972 (Interlobular vein medial atrophy)\n", + " \n", + " \n", + " Elevated urine 3-hydroxypropionic acid level\n", + " definition of HP:0034661 (Elevated urine 3-hydroxypropionic acid level)\n", + " \n", + " \n", + " Amount of 3-hydroxypropionic acid in the urine above the upper limit of normal.\n", + " definition of HP:0034661 (Elevated urine 3-hydroxypropionic acid level)\n", + " \n", + " \n", + " #3-hydroxypropionic acid high in urine\n", + " definition of HP:0034661 (Elevated urine 3-hydroxypropionic acid level)\n", + " \n", + " \n", + " Decreased nasal nitric oxide\n", + " definition of HP:0033036 (Decreased nasal nitric oxide)\n", + " \n", + " \n", + " Reduced level of nasal nitric oxide (nNO). Current American Thoracic Society/European Respiratory Society (ATS/ERS) guidelines for nNO measurements recommend air aspiration via a nasal probe while the subject exhales through the mouth against resistance in order to maintain velum closure.\n", + " definition of HP:0033036 (Decreased nasal nitric oxide)\n", + " \n", + " \n", + " #Low nasal nitric oxide level\n", + " definition of HP:0033036 (Decreased nasal nitric oxide)\n", + " \n", + " \n", + " Atoll sign\n", + " definition of HP:0032983 (Atoll sign)\n", + " \n", + " \n", + " CT finding of central ground-glass opacity surrounded by denser consolidation of crescentic shape (forming more than three-fourths of a circle) or complete ring of at least 2 mm in thickness. A rare sign, it was initially reported to be specific for cryptogenic organizing pneumonia, but was subsequently described in patients with paracoccidioidomycosis.\n", + " definition of HP:0032983 (Atoll sign)\n", + " \n", + " \n", + " #Reversed halo sign\n", + " definition of HP:0032983 (Atoll sign)\n", + " \n", + " \n", + " Capitate-hamate fusion\n", + " definition of HP:0001241 (Capitate-hamate fusion)\n", + " \n", + " \n", + " #Capitate-hamate fusions #Fused capitate and hamate #Fusion of capitate and hamate #Fusion of hamate and capitate\n", + " definition of HP:0001241 (Capitate-hamate fusion)\n", + " \n", + " \n", + " Abnormal cerebellar vermis morphology\n", + " definition of HP:0002334 (Abnormal cerebellar vermis morphology)\n", + " \n", + " \n", + " An anomaly of the vermis of cerebellum.\n", + " definition of HP:0002334 (Abnormal cerebellar vermis morphology)\n", + " \n", + " \n", + " #Abnormality of the cerebellar vermis\n", + " definition of HP:0002334 (Abnormal cerebellar vermis morphology)\n", + " \n", + " \n", + " Vivid hallucination\n", + " definition of HP:0006803 (Vivid hallucination)\n", + " \n", + " \n", + " Perceptual experiences that are vivid, intense, and sensory in nature occur in the absence of corresponding stimuli from the external environment.\n", + " definition of HP:0006803 (Vivid hallucination)\n", + " \n", + " \n", + " Hyperkalemia\n", + " definition of HP:0002153 (Hyperkalemia)\n", + " \n", + " \n", + " An abnormally increased potassium concentration in the blood.\n", + " definition of HP:0002153 (Hyperkalemia)\n", + " \n", + " \n", + " #Elevated serum potassium levels\n", + " definition of HP:0002153 (Hyperkalemia)\n", + " \n", + " \n", + " Decreased circulating globulin level\n", + " definition of HP:0032312 (Decreased circulating globulin level)\n", + " \n", + " \n", + " An abnormally reduced concentration of globulins in the blood.\n", + " definition of HP:0032312 (Decreased circulating globulin level)\n", + " \n", + " \n", + " Posterior vertebral body notching\n", + " definition of HP:6000777 (Posterior vertebral body notching)\n", + " \n", + " \n", + " Exaggerated posterior vertebral notches.\n", + " definition of HP:6000777 (Posterior vertebral body notching)\n", + " \n", + " \n", + " Generalized morning stiffness\n", + " definition of HP:0005197 (Generalized morning stiffness)\n", + " \n", + " \n", + " A sensation of stiffness in the joints that occurs following waking up in the morning.\n", + " definition of HP:0005197 (Generalized morning stiffness)\n", + " \n", + " \n", + " #Generalised morning stiffness\n", + " definition of HP:0005197 (Generalized morning stiffness)\n", + " \n", + " \n", + " Diminished glomerular basement membrane collagen IV alpha 5 chain staining\n", + " definition of HP:6001029 (Diminished glomerular basement membrane collagen IV alpha 5 chain staining)\n", + " \n", + " \n", + " Abnormal reduction in the amount of the alpha 5 chain of collagen IV in the basement membrane of the glomeruli of the kidney.\n", + " definition of HP:6001029 (Diminished glomerular basement membrane collagen IV alpha 5 chain staining)\n", + " \n", + " \n", + " Abnormal CSF valine concentration\n", + " definition of HP:0500186 (Abnormal CSF valine concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of valine in the cerebrospinal fluid.\n", + " definition of HP:0500186 (Abnormal CSF valine concentration)\n", + " \n", + " \n", + " #Abnormal valine levels in cerebrospinal fluid\n", + " definition of HP:0500186 (Abnormal CSF valine concentration)\n", + " \n", + " \n", + " Partial vaginal septum\n", + " definition of HP:0008670 (Partial vaginal septum)\n", + " \n", + " \n", + " Systemic autoinflammation\n", + " definition of HP:0033428 (Systemic autoinflammation)\n", + " \n", + " \n", + " Dysregulation of the innate immune system characterized by systemic pathobiology, i.e., with symptoms that can affect the entire body.\n", + " definition of HP:0033428 (Systemic autoinflammation)\n", + " \n", + " \n", + " Retinopathy of prematurity threshold\n", + " definition of HP:0500064 (Retinopathy of prematurity threshold)\n", + " \n", + " \n", + " A retinopathy with a 50% likelihood of progressing to retinal detachment. Threshold disease is considered to be present when stage 3 retinopathy of prematurity (ROP) is present in either zone I or zone II, with at least 5 continuous or 8 total clock hours of disease, and the presence of plus disease.\n", + " definition of HP:0500064 (Retinopathy of prematurity threshold)\n", + " \n", + " \n", + " #ROP threshold\n", + " definition of HP:0500064 (Retinopathy of prematurity threshold)\n", + " \n", + " \n", + " Bilateral conductive hearing impairment\n", + " definition of HP:0008513 (Bilateral conductive hearing impairment)\n", + " \n", + " \n", + " A bilateral type of conductive hearing impairment.\n", + " definition of HP:0008513 (Bilateral conductive hearing impairment)\n", + " \n", + " \n", + " #Bilateral conductive deafness #Bilateral conductive hearing loss\n", + " definition of HP:0008513 (Bilateral conductive hearing impairment)\n", + " \n", + " \n", + " Crouch gait\n", + " definition of HP:0025682 (Crouch gait)\n", + " \n", + " \n", + " A gait disturbance that is characterized by excessive ankle dorsiflexion, knee and hip flexion during the stance phase.\n", + " definition of HP:0025682 (Crouch gait)\n", + " \n", + " \n", + " Heterochromia iridis\n", + " definition of HP:0001100 (Heterochromia iridis)\n", + " \n", + " \n", + " Heterochromia iridis is a difference in the color of the iris in the two eyes.\n", + " definition of HP:0001100 (Heterochromia iridis)\n", + " \n", + " \n", + " #Different colored eyes #Different coloured eyes #Heterochromia irides\n", + " definition of HP:0001100 (Heterochromia iridis)\n", + " \n", + " \n", + " Cleft lower alveolar ridge\n", + " definition of HP:0009094 (Cleft lower alveolar ridge)\n", + " \n", + " \n", + " #Cleft of lower gum ridge #Notch of lower alveolar ridge #Notch of lower gum ridge #Notch of mandibular alveolar ridge\n", + " definition of HP:0009094 (Cleft lower alveolar ridge)\n", + " \n", + " \n", + " Cone-shaped epiphysis of the middle phalanx of the 2nd toe\n", + " definition of HP:0100113 (Cone-shaped epiphysis of the middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Cone-shaped end part of the middle bone of the 2nd toe\n", + " definition of HP:0100113 (Cone-shaped epiphysis of the middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " Esophageal stenosis\n", + " definition of HP:0010450 (Esophageal stenosis)\n", + " \n", + " \n", + " An abnormal narrowing of the lumen of the esophagus.\n", + " definition of HP:0010450 (Esophageal stenosis)\n", + " \n", + " \n", + " #Narrowing of the esophagus #Narrowing of the oesophagus\n", + " definition of HP:0010450 (Esophageal stenosis)\n", + " \n", + " \n", + " Triggered by emotion\n", + " definition of HP:0025334 (Triggered by emotion)\n", + " \n", + " \n", + " Applies to a sign or symptom that is provoked or brought about by a strong spontaneously arising mental state, reaction or feeling (emotion).\n", + " definition of HP:0025334 (Triggered by emotion)\n", + " \n", + " \n", + " #Emotion triggered symptoms\n", + " definition of HP:0025334 (Triggered by emotion)\n", + " \n", + " \n", + " Abnormal circulating IgA concentration\n", + " definition of HP:0410240 (Abnormal circulating IgA concentration)\n", + " \n", + " \n", + " An abnormal deviation from normal levels of IgA immunoglobulin in blood.\n", + " definition of HP:0410240 (Abnormal circulating IgA concentration)\n", + " \n", + " \n", + " #Abnormal circulating IgA level #Abnormal IgA level in blood\n", + " definition of HP:0410240 (Abnormal circulating IgA concentration)\n", + " \n", + " \n", + " Hypometric upward saccades\n", + " definition of HP:0031833 (Hypometric upward saccades)\n", + " \n", + " \n", + " Saccadic undershoot of upward saccadic eye movements, i.e., an upward saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object.\n", + " definition of HP:0031833 (Hypometric upward saccades)\n", + " \n", + " \n", + " Abnormal eyelid movement\n", + " definition of HP:0031785 (Abnormal eyelid movement)\n", + " \n", + " \n", + " An abnormality in voluntary or involuntary eyelid movements or their control.\n", + " definition of HP:0031785 (Abnormal eyelid movement)\n", + " \n", + " \n", + " Acidemia\n", + " definition of HP:0032368 (Acidemia)\n", + " \n", + " \n", + " An abnormally low blood pH (usually defined as less than 7.35).\n", + " definition of HP:0032368 (Acidemia)\n", + " \n", + " \n", + " Gastrointestinal granulomatosis\n", + " definition of HP:0034841 (Gastrointestinal granulomatosis)\n", + " \n", + " \n", + " The presence of multiple granulomas in the gastrointestinal tract (Pylorus, esophagus, jejunum, ileum, cecum, rectum, perirectal area, esophagus) as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes.\n", + " definition of HP:0034841 (Gastrointestinal granulomatosis)\n", + " \n", + " \n", + " Abnormal right atrium morphology\n", + " definition of HP:0025580 (Abnormal right atrium morphology)\n", + " \n", + " \n", + " Any structural abnormality of the right atrium.\n", + " definition of HP:0025580 (Abnormal right atrium morphology)\n", + " \n", + " \n", + " Pituitary dwarfism\n", + " definition of HP:0000839 (Pituitary dwarfism)\n", + " \n", + " \n", + " A type of reduced stature with normal proportions related to dysfunction of the pituitary gland related to either an isolated defect in the secretion of growth hormone or to panhypopituitarism, i.e., a deficit of all the anterior pituitary hormones.\n", + " definition of HP:0000839 (Pituitary dwarfism)\n", + " \n", + " \n", + " Multinucleated erythroblast\n", + " definition of HP:0034278 (Multinucleated erythroblast)\n", + " \n", + " \n", + " Erythroblasts with multiple nuclei. Erythroblasts are nucleated precrusor cells of erythrocytes that are localized to the bone marrow. Normally, erythroblasts have a single nucleus. The abnormal finding of erythrocytes with two or more nuclei may be related to defects in cytokinesis.\n", + " definition of HP:0034278 (Multinucleated erythroblast)\n", + " \n", + " \n", + " #Bone marrow: multinucleated erythroblasts #Multinucleate erythroblast\n", + " definition of HP:0034278 (Multinucleated erythroblast)\n", + " \n", + " \n", + " Interlobular vein intima/media necrosis\n", + " definition of HP:0033969 (Interlobular vein intima/media necrosis)\n", + " \n", + " \n", + " Cell death (necrosis) in the inner or middle layer of the interlobular vein of the kidney.\n", + " definition of HP:0033969 (Interlobular vein intima/media necrosis)\n", + " \n", + " \n", + " #Necrosis within interlobular vein intima/media\n", + " definition of HP:0033969 (Interlobular vein intima/media necrosis)\n", + " \n", + " \n", + " Glomerular basement membrane amyloid spicule\n", + " definition of HP:0033494 (Glomerular basement membrane amyloid spicule)\n", + " \n", + " \n", + " Amyloid spicules are projections of typically silver-positive material from the outer aspect of the glomerular capillary wall, perpendicular to the glomerular basement membrane (GBM), most often caused by amyloidosis with the latter confirmed by additional stains.\n", + " definition of HP:0033494 (Glomerular basement membrane amyloid spicule)\n", + " \n", + " \n", + " Patchy sclerosis of the distal phalanx of the 2nd toe\n", + " definition of HP:0010418 (Patchy sclerosis of the distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Uneven increase in bone density in the outermost bone of the 2nd toe\n", + " definition of HP:0010418 (Patchy sclerosis of the distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Abnormality of the sense of smell\n", + " definition of HP:0004408 (Abnormality of the sense of smell)\n", + " \n", + " \n", + " An anomaly in the ability to perceive and distinguish scents (odors).\n", + " definition of HP:0004408 (Abnormality of the sense of smell)\n", + " \n", + " \n", + " #Abnormal sense of smell #Abnormality of olfaction #Abnormality of the sense of smell #Smell defect\n", + " definition of HP:0004408 (Abnormality of the sense of smell)\n", + " \n", + " \n", + " Hyperbeta-alaninemia\n", + " definition of HP:0012556 (Hyperbeta-alaninemia)\n", + " \n", + " \n", + " Increased concentration of beta-alanine in the blood.\n", + " definition of HP:0012556 (Hyperbeta-alaninemia)\n", + " \n", + " \n", + " #High blood beta-alanine levels #Hyperbetaalaninemia\n", + " definition of HP:0012556 (Hyperbeta-alaninemia)\n", + " \n", + " \n", + " Decreased phosphoribosylpyrophosphate synthetase level\n", + " definition of HP:0032460 (Decreased phosphoribosylpyrophosphate synthetase level)\n", + " \n", + " \n", + " Abnormally reduced level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate.\n", + " definition of HP:0032460 (Decreased phosphoribosylpyrophosphate synthetase level)\n", + " \n", + " \n", + " Hypoprolinemia\n", + " definition of HP:0500139 (Hypoprolinemia)\n", + " \n", + " \n", + " A decreased amount of proline in the blood.\n", + " definition of HP:0500139 (Hypoprolinemia)\n", + " \n", + " \n", + " #Decreased blood proline levels #Low blood proline concentration\n", + " definition of HP:0500139 (Hypoprolinemia)\n", + " \n", + " \n", + " Adrenal overactivity\n", + " definition of HP:0002717 (Adrenal overactivity)\n", + " \n", + " \n", + " Increased level of galactitol in red blood cells\n", + " definition of HP:0410064 (Increased level of galactitol in red blood cells)\n", + " \n", + " \n", + " An increase in the level of galactitol in the red blood cells.\n", + " definition of HP:0410064 (Increased level of galactitol in red blood cells)\n", + " \n", + " \n", + " #Increased level of galactitol in erythrocytes\n", + " definition of HP:0410064 (Increased level of galactitol in red blood cells)\n", + " \n", + " \n", + " Reduced fetal femur/foot length ratio\n", + " definition of HP:0025663 (Reduced fetal femur/foot length ratio)\n", + " \n", + " \n", + " This ratio relates the length of the fetal femur to that of the fetal foot. The ratio is approximately 1 throughout the age range of 14 to 40 weeks of gestation. A substantial reduction in the raio can help differentiate fetuses that have dysplastic limb reduction from those whose limbs are short because of constitutional factors or IUGR. It can reduce the problem of an unknown gestational age and help to distinguish between fetal skeletal dysplasia and intrauterine growth retardation caused by other factors.\n", + " definition of HP:0025663 (Reduced fetal femur/foot length ratio)\n", + " \n", + " \n", + " Azoospermia\n", + " definition of HP:0000027 (Azoospermia)\n", + " \n", + " \n", + " Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet.\n", + " definition of HP:0000027 (Azoospermia)\n", + " \n", + " \n", + " #Absent sperm in semen\n", + " definition of HP:0000027 (Azoospermia)\n", + " \n", + " \n", + " Partial duplication of the middle phalanx of the 2nd toe\n", + " definition of HP:0010427 (Partial duplication of the middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " Partial duplication of middle phalanx of second toe.\n", + " definition of HP:0010427 (Partial duplication of the middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Partial duplication of the middle bone of the 2nd toe\n", + " definition of HP:0010427 (Partial duplication of the middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " Chorangioma\n", + " definition of HP:0100883 (Chorangioma)\n", + " \n", + " \n", + " Hamartoma-like growth in the placenta consisting of blood vessels.\n", + " definition of HP:0100883 (Chorangioma)\n", + " \n", + " \n", + " #Placental hamartoma\n", + " definition of HP:0100883 (Chorangioma)\n", + " \n", + " \n", + " Nasal chondritis\n", + " definition of HP:0033380 (Nasal chondritis)\n", + " \n", + " \n", + " Inflammation of the cartilage of the nose.\n", + " definition of HP:0033380 (Nasal chondritis)\n", + " \n", + " \n", + " #Nose chondritis\n", + " definition of HP:0033380 (Nasal chondritis)\n", + " \n", + " \n", + " Delayed tarsal ossification\n", + " definition of HP:0008103 (Delayed tarsal ossification)\n", + " \n", + " \n", + " Delayed maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.\n", + " definition of HP:0008103 (Delayed tarsal ossification)\n", + " \n", + " \n", + " #Tarsal delayed ossification\n", + " definition of HP:0008103 (Delayed tarsal ossification)\n", + " \n", + " \n", + " Vitreous haze\n", + " definition of HP:0030652 (Vitreous haze)\n", + " \n", + " \n", + " Vitreous haze is the obscuration of fundus details by vitreous cells and protein exudation.\n", + " definition of HP:0030652 (Vitreous haze)\n", + " \n", + " \n", + " Anti-transcription intermediary factor-1gamma antibody positivity\n", + " definition of HP:0034105 (Anti-transcription intermediary factor-1gamma antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against transcription intermediary factor-1gamma.\n", + " definition of HP:0034105 (Anti-transcription intermediary factor-1gamma antibody positivity)\n", + " \n", + " \n", + " #Anti-TIF-1gamma antibody positivity #Anti-TIF1-gamma antibody positivity\n", + " definition of HP:0034105 (Anti-transcription intermediary factor-1gamma antibody positivity)\n", + " \n", + " \n", + " Continuous diaphragm sign\n", + " definition of HP:0032173 (Continuous diaphragm sign)\n", + " \n", + " \n", + " This sign is seen in pneumomediastinum in which air accumulates between the lower border of the heart and the superior part of the diaphragm, which results in complete visualization of the diaphragm in chest X-ray, hence named continuous diaphragm sign.\n", + " definition of HP:0032173 (Continuous diaphragm sign)\n", + " \n", + " \n", + " Abnormal DLCO\n", + " definition of HP:0045049 (Abnormal DLCO)\n", + " \n", + " \n", + " An abnormal amount of oxygen passes into the blood from the lungs and/or an abnormal amount of carbon dioxide passes from the blood into the lungs.\n", + " definition of HP:0045049 (Abnormal DLCO)\n", + " \n", + " \n", + " #Abnormal diffusing capacity #Abnormal TLCO #Abnormal transfer factor of the lung for carbon monoxide\n", + " definition of HP:0045049 (Abnormal DLCO)\n", + " \n", + " \n", + " Plagiocephaly\n", + " definition of HP:0001357 (Plagiocephaly)\n", + " \n", + " \n", + " Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape.\n", + " definition of HP:0001357 (Plagiocephaly)\n", + " \n", + " \n", + " #Flat head syndrome #Flattening of cranial vault #Flattening of cranium #Flattening of skull #Rhomboid shaped cranium #Rhomboid shaped skull\n", + " definition of HP:0001357 (Plagiocephaly)\n", + " \n", + " \n", + " Arcuate artery endotheliosis\n", + " definition of HP:0033902 (Arcuate artery endotheliosis)\n", + " \n", + " \n", + " Enlargement of endothelial cells of the arcuate arteries of the kidney because of cytoplasmic swelling.\n", + " definition of HP:0033902 (Arcuate artery endotheliosis)\n", + " \n", + " \n", + " #Endotheliosis within arcuate arteries\n", + " definition of HP:0033902 (Arcuate artery endotheliosis)\n", + " \n", + " \n", + " Deep episcleral hyperemia\n", + " definition of HP:0025340 (Deep episcleral hyperemia)\n", + " \n", + " \n", + " Prominence of blood vessels of the deep episcleral tissues.\n", + " definition of HP:0025340 (Deep episcleral hyperemia)\n", + " \n", + " \n", + " #Deep episcleral hyperaemia\n", + " definition of HP:0025340 (Deep episcleral hyperemia)\n", + " \n", + " \n", + " Knuckle pad\n", + " definition of HP:0032541 (Knuckle pad)\n", + " \n", + " \n", + " Knuckle pads are benign fibrofatty subcutaneous pads located over the proximal interphalangeal (PIP) joints that can be mistaken for arthritis. Rarely they affect the dorsal aspect of the metacarpophalangeal (MCP) joints. Clinically they are painless and often affect both hands in an asymmetrical pattern.\n", + " definition of HP:0032541 (Knuckle pad)\n", + " \n", + " \n", + " #DDN #Dorsal dupuytren nodules #Knuckle pads on dorsal aspect of finger joints\n", + " definition of HP:0032541 (Knuckle pad)\n", + " \n", + " \n", + " Abnormal left atrium morphology\n", + " definition of HP:0025579 (Abnormal left atrium morphology)\n", + " \n", + " \n", + " Any structural abnormality of the left atrium.\n", + " definition of HP:0025579 (Abnormal left atrium morphology)\n", + " \n", + " \n", + " Scalp tenderness\n", + " definition of HP:0100809 (Scalp tenderness)\n", + " \n", + " \n", + " Pain or discomfort of the scalp elicited by palpation.\n", + " definition of HP:0100809 (Scalp tenderness)\n", + " \n", + " \n", + " #Scalp hypersensitivity #Scalp tenderness\n", + " definition of HP:0100809 (Scalp tenderness)\n", + " \n", + " \n", + " Myopathic facies\n", + " definition of HP:0002058 (Myopathic facies)\n", + " \n", + " \n", + " A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness.\n", + " definition of HP:0002058 (Myopathic facies)\n", + " \n", + " \n", + " #Myopathic face #Myopathic facial appearance\n", + " definition of HP:0002058 (Myopathic facies)\n", + " \n", + " \n", + " Malnutrition\n", + " definition of HP:0004395 (Malnutrition)\n", + " \n", + " \n", + " A deficiency in the intake of energy and nutrients.\n", + " definition of HP:0004395 (Malnutrition)\n", + " \n", + " \n", + " #Malnutrition\n", + " definition of HP:0004395 (Malnutrition)\n", + " \n", + " \n", + " Peripheral lung neovascularity\n", + " definition of HP:0033571 (Peripheral lung neovascularity)\n", + " \n", + " \n", + " The presence of small, tortuous, micronodular, serpiginous intrapulmonary vessels often in the subpleural lung or in proximity to centrilobular arterioles, coursing in directions inconsistent with known arteriolar anatomy.\n", + " definition of HP:0033571 (Peripheral lung neovascularity)\n", + " \n", + " \n", + " Increased circulating aldosterone concentration\n", + " definition of HP:0000859 (Increased circulating aldosterone concentration)\n", + " \n", + " \n", + " Overproduction of the mineralocorticoid aldosterone by the adrenal cortex.\n", + " definition of HP:0000859 (Increased circulating aldosterone concentration)\n", + " \n", + " \n", + " #Elevated plasma aldosterone #Increased aldosterone #Increased aldosterone production #Mineralocorticoid excess\n", + " definition of HP:0000859 (Increased circulating aldosterone concentration)\n", + " \n", + " \n", + " Hypermetric horizontal saccades\n", + " definition of HP:0032013 (Hypermetric horizontal saccades)\n", + " \n", + " \n", + " Overshoot of horizontal (sideways) saccadic eye movements.\n", + " definition of HP:0032013 (Hypermetric horizontal saccades)\n", + " \n", + " \n", + " Chronic myelogenous leukemia\n", + " definition of HP:0005506 (Chronic myelogenous leukemia)\n", + " \n", + " \n", + " A myeloproliferative disorder characterized by increased proliferation of the granulocytic cell line without the loss of their capacity to differentiate.\n", + " definition of HP:0005506 (Chronic myelogenous leukemia)\n", + " \n", + " \n", + " #Chronic myelocytic leukaemia #Chronic myelocytic leukemia #Chronic myelogenous leukaemia #Chronic myeloid leukaemia #Chronic myeloid leukemia\n", + " definition of HP:0005506 (Chronic myelogenous leukemia)\n", + " \n", + " \n", + " Decreased circulating complement factor I concentration\n", + " definition of HP:0005356 (Decreased circulating complement factor I concentration)\n", + " \n", + " \n", + " Concentration of the complement component factor I in the blood circulation below the lower limit of normal.\n", + " definition of HP:0005356 (Decreased circulating complement factor I concentration)\n", + " \n", + " \n", + " #Decreased serum complement factor I\n", + " definition of HP:0005356 (Decreased circulating complement factor I concentration)\n", + " \n", + " \n", + " Exertional dyspnea\n", + " definition of HP:0002875 (Exertional dyspnea)\n", + " \n", + " \n", + " Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest.\n", + " definition of HP:0002875 (Exertional dyspnea)\n", + " \n", + " \n", + " #Exertional breathlessness #Exertional dyspnoea #Shortness of breathing upon physical activity\n", + " definition of HP:0002875 (Exertional dyspnea)\n", + " \n", + " \n", + " Triangular shaped proximal phalanges of the toes\n", + " definition of HP:0010210 (Triangular shaped proximal phalanges of the toes)\n", + " \n", + " \n", + " #Triangular shaped innermost toe bones\n", + " definition of HP:0010210 (Triangular shaped proximal phalanges of the toes)\n", + " \n", + " \n", + " Refractory macrocytic anemia\n", + " definition of HP:0004861 (Refractory macrocytic anemia)\n", + " \n", + " \n", + " #Refractory macrocytic anaemia\n", + " definition of HP:0004861 (Refractory macrocytic anemia)\n", + " \n", + " \n", + " Pressured speech\n", + " definition of HP:5200265 (Pressured speech)\n", + " \n", + " \n", + " Speech pattern that is excessive and intense that often imparts a sense of urgency, the individual appears to be driven to communicate with many words that are spoken very quickly and may run into each other. The person is frequently difficult to interrupt and appears to not respond to social cues for the conversational partner(s) to take their turn in speaking.\n", + " definition of HP:5200265 (Pressured speech)\n", + " \n", + " \n", + " #Excessive speech output\n", + " definition of HP:5200265 (Pressured speech)\n", + " \n", + " \n", + " Bloodstream Trypanosoma cruzi\n", + " definition of HP:0034581 (Bloodstream Trypanosoma cruzi)\n", + " \n", + " \n", + " Presence of Trypanosoma cruzi in the blood stream. Trypanosoma cruzii is the etiological agent of Chagas disease.\n", + " definition of HP:0034581 (Bloodstream Trypanosoma cruzi)\n", + " \n", + " \n", + " #Trypanosoma cruzi present on peripheral blood smear\n", + " definition of HP:0034581 (Bloodstream Trypanosoma cruzi)\n", + " \n", + " \n", + " Central nervous system degeneration\n", + " definition of HP:0007009 (Central nervous system degeneration)\n", + " \n", + " \n", + " #CNS degeneration\n", + " definition of HP:0007009 (Central nervous system degeneration)\n", + " \n", + " \n", + " Recurrent interdigital mycosis\n", + " definition of HP:0025351 (Recurrent interdigital mycosis)\n", + " \n", + " \n", + " A history of repeated fungal infections located between the fingers or toes, usually manifested by scaling, maceration, and itching. The toes are more commonly affected than the fingers.\n", + " definition of HP:0025351 (Recurrent interdigital mycosis)\n", + " \n", + " \n", + " #Recurrent interdigital tinea\n", + " definition of HP:0025351 (Recurrent interdigital mycosis)\n", + " \n", + " \n", + " Hemangioblastoma\n", + " definition of HP:0010797 (Hemangioblastoma)\n", + " \n", + " \n", + " A hemangioblastoma is a benign vascular neoplasm that arises almost exclusively in the central nervous system. Hemangioblastomas consist of a tightly packed cluster of small blood vessels forming a mass of up to 1 or 2 cm in diameter.\n", + " definition of HP:0010797 (Hemangioblastoma)\n", + " \n", + " \n", + " #Haemangioblastoma\n", + " definition of HP:0010797 (Hemangioblastoma)\n", + " \n", + " \n", + " Abnormal circulating hepcidin concentration\n", + " definition of HP:0031875 (Abnormal circulating hepcidin concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of hepcidin in the blood circulation.\n", + " definition of HP:0031875 (Abnormal circulating hepcidin concentration)\n", + " \n", + " \n", + " #Abnormal hepcidin level\n", + " definition of HP:0031875 (Abnormal circulating hepcidin concentration)\n", + " \n", + " \n", + " Acrania\n", + " definition of HP:0030716 (Acrania)\n", + " \n", + " \n", + " Partial or complete absence of the flat bones of the cranial vault. The condition is frequently, though not always, associated with anencephaly.\n", + " definition of HP:0030716 (Acrania)\n", + " \n", + " \n", + " Facial hypertrichosis\n", + " definition of HP:0002219 (Facial hypertrichosis)\n", + " \n", + " \n", + " Excessive, increased hair growth located in the facial region.\n", + " definition of HP:0002219 (Facial hypertrichosis)\n", + " \n", + " \n", + " #Increased facial hair growth\n", + " definition of HP:0002219 (Facial hypertrichosis)\n", + " \n", + " \n", + " Transient hearing impairment\n", + " definition of HP:0012779 (Transient hearing impairment)\n", + " \n", + " \n", + " Hearing loss that occurs acutely and resolves completely.\n", + " definition of HP:0012779 (Transient hearing impairment)\n", + " \n", + " \n", + " Cervical clear cell adenocarcinoma\n", + " definition of HP:0031522 (Cervical clear cell adenocarcinoma)\n", + " \n", + " \n", + " A type of adenocarcinoma originating in the cervix and characterized by large cells with moderate to abundant clear cytoplasm.\n", + " definition of HP:0031522 (Cervical clear cell adenocarcinoma)\n", + " \n", + " \n", + " #Clear cell carcinoma of cervix\n", + " definition of HP:0031522 (Cervical clear cell adenocarcinoma)\n", + " \n", + " \n", + " Fractured lower leg\n", + " definition of HP:0041081 (Fractured lower leg)\n", + " \n", + " \n", + " Bone fracture anywhere in the tibia, fibula, or ankle.\n", + " definition of HP:0041081 (Fractured lower leg)\n", + " \n", + " \n", + " #Fracture of the lower leg #Lower extremity fracture #Lower limb fracture\n", + " definition of HP:0041081 (Fractured lower leg)\n", + " \n", + " \n", + " Osteopenia\n", + " definition of HP:0000938 (Osteopenia)\n", + " \n", + " \n", + " Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.\n", + " definition of HP:0000938 (Osteopenia)\n", + " \n", + " \n", + " #Generalised osteopenia #Generalized osteopenia #Osteopaenia\n", + " definition of HP:0000938 (Osteopenia)\n", + " \n", + " \n", + " Abnormal number of teeth\n", + " definition of HP:0006483 (Abnormal number of teeth)\n", + " \n", + " \n", + " The presence of an altered number of of teeth.\n", + " definition of HP:0006483 (Abnormal number of teeth)\n", + " \n", + " \n", + " #Abnormal complement of teeth #Abnormal number of teeth #Abnormal tooth count\n", + " definition of HP:0006483 (Abnormal number of teeth)\n", + " \n", + " \n", + " Immediate detumescence of penis at time of symptom onset\n", + " definition of HP:6000982 (Immediate detumescence of penis at time of symptom onset)\n", + " \n", + " \n", + " Loss of erection at the time point of pain or other symptom onset.\n", + " definition of HP:6000982 (Immediate detumescence of penis at time of symptom onset)\n", + " \n", + " \n", + " Elevated urinary deoxyuridine level\n", + " definition of HP:6000116 (Elevated urinary deoxyuridine level)\n", + " \n", + " \n", + " The amount of deoxyuridine in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000116 (Elevated urinary deoxyuridine level)\n", + " \n", + " \n", + " #Deoxyuridine high in urine\n", + " definition of HP:6000116 (Elevated urinary deoxyuridine level)\n", + " \n", + " \n", + " Episodic flaccid weakness\n", + " definition of HP:0003752 (Episodic flaccid weakness)\n", + " \n", + " \n", + " Recurrent episodes of muscle flaccidity, a type of paralysis in which a muscle becomes soft and yields to passive stretching.\n", + " definition of HP:0003752 (Episodic flaccid weakness)\n", + " \n", + " \n", + " Atherosclerosis\n", + " definition of HP:0002621 (Atherosclerosis)\n", + " \n", + " \n", + " A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow.\n", + " definition of HP:0002621 (Atherosclerosis)\n", + " \n", + " \n", + " #Atherosclerotic cardiovascular disease #Narrowing and hardening of arteries\n", + " definition of HP:0002621 (Atherosclerosis)\n", + " \n", + " \n", + " Conjunctival whitish salt-like deposits\n", + " definition of HP:0007799 (Conjunctival whitish salt-like deposits)\n", + " \n", + " \n", + " The presence of whitish deposits in the conjunctiva resembling salt. May be related to calcinosis.\n", + " definition of HP:0007799 (Conjunctival whitish salt-like deposits)\n", + " \n", + " \n", + " Crusting erythematous dermatitis\n", + " definition of HP:0007473 (Crusting erythematous dermatitis)\n", + " \n", + " \n", + " Abnormal oxygen level in cord blood\n", + " definition of HP:0500259 (Abnormal oxygen level in cord blood)\n", + " \n", + " \n", + " An abnormal level of blood oxygen in the cord blood.\n", + " definition of HP:0500259 (Abnormal oxygen level in cord blood)\n", + " \n", + " \n", + " #Abnormal cord blood oxygen levels #Abnormal O2 level in cord blood #Abnormal oxygen amount in umbilical cord blood\n", + " definition of HP:0500259 (Abnormal oxygen level in cord blood)\n", + " \n", + " \n", + " Hypofibrinogenemia\n", + " definition of HP:0011900 (Hypofibrinogenemia)\n", + " \n", + " \n", + " Decreased concentration of fibrinogen in the blood.\n", + " definition of HP:0011900 (Hypofibrinogenemia)\n", + " \n", + " \n", + " #Low fibrinogen activity #Low fibrinogen level\n", + " definition of HP:0011900 (Hypofibrinogenemia)\n", + " \n", + " \n", + " Anti-Gerbich phenotype 1 antibody positivity\n", + " definition of HP:0034110 (Anti-Gerbich phenotype 1 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ge-1.\n", + " definition of HP:0034110 (Anti-Gerbich phenotype 1 antibody positivity)\n", + " \n", + " \n", + " #Anti-Ge-1 antibody positivity\n", + " definition of HP:0034110 (Anti-Gerbich phenotype 1 antibody positivity)\n", + " \n", + " \n", + " Abnormality of cytokine secretion\n", + " definition of HP:0011113 (Abnormality of cytokine secretion)\n", + " \n", + " \n", + " An abnormality in the production or cellular release of a cytokine (i.e., any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells).\n", + " definition of HP:0011113 (Abnormality of cytokine secretion)\n", + " \n", + " \n", + " Undetectable light-adapted electroretinogram\n", + " definition of HP:0030465 (Undetectable light-adapted electroretinogram)\n", + " \n", + " \n", + " No detectable response to the light-adapted 3.0 ERG (single-flash cone response). This type of ERG measures responses of the cone system; a-waves arise from cone photoreceptors and cone off-bipolar cells; the b-wave comes from On- and Off-cone bipolar cells.\n", + " definition of HP:0030465 (Undetectable light-adapted electroretinogram)\n", + " \n", + " \n", + " #Absent photopic (cone) responses on ERG #non-detectable photopic ERG\n", + " definition of HP:0030465 (Undetectable light-adapted electroretinogram)\n", + " \n", + " \n", + " Abnormal circulating alanine concentration\n", + " definition of HP:0010916 (Abnormal circulating alanine concentration)\n", + " \n", + " \n", + " An abnormality of an alanine metabolic process.\n", + " definition of HP:0010916 (Abnormal circulating alanine concentration)\n", + " \n", + " \n", + " #Abnormality of alanine metabolism\n", + " definition of HP:0010916 (Abnormal circulating alanine concentration)\n", + " \n", + " \n", + " Pituicytoma\n", + " definition of HP:0011754 (Pituicytoma)\n", + " \n", + " \n", + " A solid, low grade, spindle cell, glial neoplasm of adults that originates in the neurohypophysis or infundibulum. Clinical signs and symptoms include visual disturbance, headache and features of hypopituitarism. Pituicytomas are well-circumscribed, solid masses that can measure up to several centimeters. Histologically, they show a compact architecture consisting of elongate, bipolar spindle cells arranged in interlacing fascicles or assuming a storiform pattern.\n", + " definition of HP:0011754 (Pituicytoma)\n", + " \n", + " \n", + " Glomerular obsolescence\n", + " definition of HP:0033321 (Glomerular obsolescence)\n", + " \n", + " \n", + " Globally sclerotic glomeruli are that are small and without hyalinosis and may appear with collapse of the tuft with collagenization of the urinary space. Bowman's capsule is completely or partially absent and there is no periglomerular fibrosis and glomerular size is decreased by more than 50% compared to all other glomeruli in the same biopsy. Obsolescent glomeruli may appear to be receding into the interstitium.\n", + " definition of HP:0033321 (Glomerular obsolescence)\n", + " \n", + " \n", + " Irregular olecranon\n", + " definition of HP:0004034 (Irregular olecranon)\n", + " \n", + " \n", + " Subluxation of the small joints of the hand\n", + " definition of HP:0004269 (Subluxation of the small joints of the hand)\n", + " \n", + " \n", + " A partial dislocation of some or all of the small joints of the hand.\n", + " definition of HP:0004269 (Subluxation of the small joints of the hand)\n", + " \n", + " \n", + " #Partial dislocation of small joints of hand\n", + " definition of HP:0004269 (Subluxation of the small joints of the hand)\n", + " \n", + " \n", + " Type 2 muscle fiber atrophy\n", + " definition of HP:0003554 (Type 2 muscle fiber atrophy)\n", + " \n", + " \n", + " Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy.\n", + " definition of HP:0003554 (Type 2 muscle fiber atrophy)\n", + " \n", + " \n", + " #Type 2 fiber atrophy #Type 2 fibre atrophy #Type 2 muscle fibre atrophy\n", + " definition of HP:0003554 (Type 2 muscle fiber atrophy)\n", + " \n", + " \n", + " Abnormal vaginal bleeding\n", + " definition of HP:0034263 (Abnormal vaginal bleeding)\n", + " \n", + " \n", + " Abnormal vaginal bleeding occurs between menstrual periods, after sex, or after menopause. Menstrual periods that are heavier or last longer than usual or last more than seven days also are considered abnormal.\n", + " definition of HP:0034263 (Abnormal vaginal bleeding)\n", + " \n", + " \n", + " Decreased circulating complement factor H concentration\n", + " definition of HP:0005369 (Decreased circulating complement factor H concentration)\n", + " \n", + " \n", + " Concentration of the complement component factor H in the blood circulation below the lower limit of normal.\n", + " definition of HP:0005369 (Decreased circulating complement factor H concentration)\n", + " \n", + " \n", + " #Decreased serum complement factor H\n", + " definition of HP:0005369 (Decreased circulating complement factor H concentration)\n", + " \n", + " \n", + " Pseudoepiphysis of the distal phalanx of the thumb\n", + " definition of HP:0009682 (Pseudoepiphysis of the distal phalanx of the thumb)\n", + " \n", + " \n", + " A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the distal phalanx of the thumb.\n", + " definition of HP:0009682 (Pseudoepiphysis of the distal phalanx of the thumb)\n", + " \n", + " \n", + " #Pseudoepiphysis of the outermost bone of the thumb\n", + " definition of HP:0009682 (Pseudoepiphysis of the distal phalanx of the thumb)\n", + " \n", + " \n", + " Multiple lipomas\n", + " definition of HP:0001012 (Multiple lipomas)\n", + " \n", + " \n", + " The presence of multiple lipomas (a type of benign tissue made of fatty tissue).\n", + " definition of HP:0001012 (Multiple lipomas)\n", + " \n", + " \n", + " #Multiple fatty lumps\n", + " definition of HP:0001012 (Multiple lipomas)\n", + " \n", + " \n", + " Increased fecal coproporphyrin III:coproporphyrin I ratio\n", + " definition of HP:0034471 (Increased fecal coproporphyrin III:coproporphyrin I ratio)\n", + " \n", + " \n", + " Abnormal relative increase in the amount of fecal coproporphyrin III as compared to coproporphyrin I in the feces.\n", + " definition of HP:0034471 (Increased fecal coproporphyrin III:coproporphyrin I ratio)\n", + " \n", + " \n", + " #Coproporphyrin isomer III/I ratio high in stool #Increased faecal CIII:CI ratio #Increased fecal CIII:CI ratio\n", + " definition of HP:0034471 (Increased fecal coproporphyrin III:coproporphyrin I ratio)\n", + " \n", + " \n", + " Recent past medical history\n", + " definition of HP:4000144 (Recent past medical history)\n", + " \n", + " \n", + " History of events that precede the current presenting condition and are thought to be of potential relevance, having occurred in the hours, days, or weeks before the current condition.\n", + " definition of HP:4000144 (Recent past medical history)\n", + " \n", + " \n", + " Osteopetrosis\n", + " definition of HP:0011002 (Osteopetrosis)\n", + " \n", + " \n", + " Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal.\n", + " definition of HP:0011002 (Osteopetrosis)\n", + " \n", + " \n", + " #Harder, denser, fracture-prone bones\n", + " definition of HP:0011002 (Osteopetrosis)\n", + " \n", + " \n", + " Abnormal circulating porphyrin concentration\n", + " definition of HP:0010472 (Abnormal circulating porphyrin concentration)\n", + " \n", + " \n", + " An abnormality in the synthesis or catabolism of heme. Heme is composed of ferrous iron and protoporphyrin IX and is an essential molecule as the prosthetic group of hemeproteins such as hemoglobin, myoglobin, mitochondrial and microsomal cytochromes.\n", + " definition of HP:0010472 (Abnormal circulating porphyrin concentration)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the colon\n", + " definition of HP:0100811 (Aplasia/Hypoplasia of the colon)\n", + " \n", + " \n", + " Congenital absence or underdevelopment of the colon.\n", + " definition of HP:0100811 (Aplasia/Hypoplasia of the colon)\n", + " \n", + " \n", + " #Absent/small colon #Absent/underdeveloped colon\n", + " definition of HP:0100811 (Aplasia/Hypoplasia of the colon)\n", + " \n", + " \n", + " Decreased circulating alpha-mannosidase activity\n", + " definition of HP:0034712 (Decreased circulating alpha-mannosidase activity)\n", + " \n", + " \n", + " Concentration or activity of alpha mannosidase below the lower limit of normal in the blood circulation.\n", + " definition of HP:0034712 (Decreased circulating alpha-mannosidase activity)\n", + " \n", + " \n", + " Labiomental fasciculations\n", + " definition of HP:0032507 (Labiomental fasciculations)\n", + " \n", + " \n", + " Fasciculations affecting the tongue muscle and the musculature of the chin.\n", + " definition of HP:0032507 (Labiomental fasciculations)\n", + " \n", + " \n", + " #Fasciculations, labiomental\n", + " definition of HP:0032507 (Labiomental fasciculations)\n", + " \n", + " \n", + " Vertebral artery aneurysm\n", + " definition of HP:0034179 (Vertebral artery aneurysm)\n", + " \n", + " \n", + " Abnormal outpouching or sac-like dilatation in the wall of the vertebral artery .\n", + " definition of HP:0034179 (Vertebral artery aneurysm)\n", + " \n", + " \n", + " Cleft soft palate\n", + " definition of HP:0000185 (Cleft soft palate)\n", + " \n", + " \n", + " Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency.\n", + " definition of HP:0000185 (Cleft soft palate)\n", + " \n", + " \n", + " #Cleft muscular palate #Cleft of soft palate #Cleft velum\n", + " definition of HP:0000185 (Cleft soft palate)\n", + " \n", + " \n", + " Ureteropelvic junction obstruction\n", + " definition of HP:0000074 (Ureteropelvic junction obstruction)\n", + " \n", + " \n", + " Blockage of urine flow from the renal pelvis to the proximal ureter.\n", + " definition of HP:0000074 (Ureteropelvic junction obstruction)\n", + " \n", + " \n", + " #Pelviureteric junction obstruction #Ureteropelvic junction stenosis\n", + " definition of HP:0000074 (Ureteropelvic junction obstruction)\n", + " \n", + " \n", + " Dermoid cyst\n", + " definition of HP:0025247 (Dermoid cyst)\n", + " \n", + " \n", + " A congenital subcutaneous cyst that arises from entrapment of skin along the lines of embryonic fusion. In contrast to epidermal cysts, dermoid cysts tend to contain various adnexal structures such as hair, sebaceous, eccrine or apocrine glands. Dermoid cysts are present at birth, and are indolent, firm, deep, subcutaneous nodules. They are often located on the head and neck, and rarely in the anogenital area. Dermoid cysts are slowly progressive and can grow to a size of 1 to 4 cm.\n", + " definition of HP:0025247 (Dermoid cyst)\n", + " \n", + " \n", + " Atypical absence seizure\n", + " definition of HP:0007270 (Atypical absence seizure)\n", + " \n", + " \n", + " An atypical absence seizure is a type of generalized non-motor (absence) seizure characterized by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity.\n", + " definition of HP:0007270 (Atypical absence seizure)\n", + " \n", + " \n", + " #Atypical absence #Atypical absence seizures #Atypical petit mal seizures\n", + " definition of HP:0007270 (Atypical absence seizure)\n", + " \n", + " \n", + " Desmin bodies\n", + " definition of HP:0100300 (Desmin bodies)\n", + " \n", + " \n", + " Long fibula\n", + " definition of HP:0003085 (Long fibula)\n", + " \n", + " \n", + " Disproportionately long fibulae.\n", + " definition of HP:0003085 (Long fibula)\n", + " \n", + " \n", + " #Disproportionately long fibula #Long calf bone #Long fibula\n", + " definition of HP:0003085 (Long fibula)\n", + " \n", + " \n", + " Increased facial adipose tissue\n", + " definition of HP:0000287 (Increased facial adipose tissue)\n", + " \n", + " \n", + " An increased amount of subcutaneous fat tissue in the face.\n", + " definition of HP:0000287 (Increased facial adipose tissue)\n", + " \n", + " \n", + " #Increased amount of facial adipose tissue #Increased amount of facial fat #Increased volume of facial adipose tissue\n", + " definition of HP:0000287 (Increased facial adipose tissue)\n", + " \n", + " \n", + " Abnormality of the proximal phalanx of the 2nd finger\n", + " definition of HP:0009544 (Abnormality of the proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Abnormal innermost index finger bone #Abnormality of the proximal 2nd finger phalanx\n", + " definition of HP:0009544 (Abnormality of the proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Abnormal foot bone ossification\n", + " definition of HP:0010675 (Abnormal foot bone ossification)\n", + " \n", + " \n", + " An abnormality of the formation and mineralization of any bone of the skeleton of foot.\n", + " definition of HP:0010675 (Abnormal foot bone ossification)\n", + " \n", + " \n", + " #Abnormality of the mineralisation and ossification of bones of the feet\n", + " definition of HP:0010675 (Abnormal foot bone ossification)\n", + " \n", + " \n", + " Limb muscle weakness\n", + " definition of HP:0003690 (Limb muscle weakness)\n", + " \n", + " \n", + " Reduced strength and weakness of the muscles of the arms and legs.\n", + " definition of HP:0003690 (Limb muscle weakness)\n", + " \n", + " \n", + " #Limb muscle weakness #Limb weakness\n", + " definition of HP:0003690 (Limb muscle weakness)\n", + " \n", + " \n", + " Glomerular capillary collapse\n", + " definition of HP:0033269 (Glomerular capillary collapse)\n", + " \n", + " \n", + " Collapse is generally accompanied by other descriptors such as hypertrophy and hyperplasia of overlying glomerular epithelial cells, halo, protein droplets in podocytes and glomerular parietal epithelial cells (PECs).\n", + " definition of HP:0033269 (Glomerular capillary collapse)\n", + " \n", + " \n", + " #Collapse of glomerular capillary walls\n", + " definition of HP:0033269 (Glomerular capillary collapse)\n", + " \n", + " \n", + " Abnormal immunoglobulin level in body fluid\n", + " definition of HP:0041076 (Abnormal immunoglobulin level in body fluid)\n", + " \n", + " \n", + " An abnormal deviation from normal levels of immunoglobulins in body fluids, such as mucous.\n", + " definition of HP:0041076 (Abnormal immunoglobulin level in body fluid)\n", + " \n", + " \n", + " Papilledema\n", + " definition of HP:0001085 (Papilledema)\n", + " \n", + " \n", + " Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure.\n", + " definition of HP:0001085 (Papilledema)\n", + " \n", + " \n", + " Decreased urinary hypoxanthine level\n", + " definition of HP:0040426 (Decreased urinary hypoxanthine level)\n", + " \n", + " \n", + " The concentration of hypoxanthine in the urine, normalized for urine concentration, is below the lower limit of normal.\n", + " definition of HP:0040426 (Decreased urinary hypoxanthine level)\n", + " \n", + " \n", + " Pointed helix\n", + " definition of HP:0100810 (Pointed helix)\n", + " \n", + " \n", + " #Elfin ear #Spock ear #Spock's ear #Vulcan ear\n", + " definition of HP:0100810 (Pointed helix)\n", + " \n", + " \n", + " Shortened sleep phase\n", + " definition of HP:0033063 (Shortened sleep phase)\n", + " \n", + " \n", + " A tendency to sleep fewer hours than usual while feeling well-rested.\n", + " definition of HP:0033063 (Shortened sleep phase)\n", + " \n", + " \n", + " #Short sleep\n", + " definition of HP:0033063 (Shortened sleep phase)\n", + " \n", + " \n", + " Childhood-onset short-trunk short stature\n", + " definition of HP:0008922 (Childhood-onset short-trunk short stature)\n", + " \n", + " \n", + " A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in childhood.\n", + " definition of HP:0008922 (Childhood-onset short-trunk short stature)\n", + " \n", + " \n", + " #Childhood-onset short-trunk short stature #Disproportionate short-trunk short stature, identifiable in childhood #Short-trunk dwarfism identifiable during childhood\n", + " definition of HP:0008922 (Childhood-onset short-trunk short stature)\n", + " \n", + " \n", + " Triggered by excitement\n", + " definition of HP:0025227 (Triggered by excitement)\n", + " \n", + " \n", + " Applies to a sign or symptom that is provoked or brought about by a a state of excitement or by being startled.\n", + " definition of HP:0025227 (Triggered by excitement)\n", + " \n", + " \n", + " #Excitement triggered symptoms #Triggered by excitement\n", + " definition of HP:0025227 (Triggered by excitement)\n", + " \n", + " \n", + " Type 2 muscle fiber predominance\n", + " definition of HP:0010602 (Type 2 muscle fiber predominance)\n", + " \n", + " \n", + " An abnormal predominance of type II muscle fibers (in general, this feature can only be observed on muscle biopsy).\n", + " definition of HP:0010602 (Type 2 muscle fiber predominance)\n", + " \n", + " \n", + " #Type 2 muscle fibre predominance #Type II muscle fiber predominance #Type II muscle fibre predominance\n", + " definition of HP:0010602 (Type 2 muscle fiber predominance)\n", + " \n", + " \n", + " Dysplasia of second lumbar vertebra\n", + " definition of HP:0004589 (Dysplasia of second lumbar vertebra)\n", + " \n", + " \n", + " Type B brachydactyly\n", + " definition of HP:0005831 (Type B brachydactyly)\n", + " \n", + " \n", + " Impaired leukocyte adhesion\n", + " definition of HP:0033798 (Impaired leukocyte adhesion)\n", + " \n", + " \n", + " During states of inflammation, white blood cells (leukocytes) play a key role in maintaining tissue homeostasis through elimination of pathogens and removal of damaged tissue. Leukocytes migrate to the site of inflammation by crawling over and through the blood vessel wall, into the tissue. This term refers to a defect in the attachment of leukocytes to the blood vessel wall, which is a key step required before they can pass through gaps of the endothelial cells of the blood vessel wall to migrate to the site of inflammation.\n", + " definition of HP:0033798 (Impaired leukocyte adhesion)\n", + " \n", + " \n", + " Macrosquare-wave jerks\n", + " definition of HP:0032116 (Macrosquare-wave jerks)\n", + " \n", + " \n", + " Horizontal 10-40 degree excursions from fixation and back again.\n", + " definition of HP:0032116 (Macrosquare-wave jerks)\n", + " \n", + " \n", + " Depigmentation/hyperpigmentation of skin\n", + " definition of HP:0007483 (Depigmentation/hyperpigmentation of skin)\n", + " \n", + " \n", + " Abnormal circulating sulfur amino acid concentration\n", + " definition of HP:0004339 (Abnormal circulating sulfur amino acid concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of a sulfur amino acid in the blood circulation.\n", + " definition of HP:0004339 (Abnormal circulating sulfur amino acid concentration)\n", + " \n", + " \n", + " #Abnormal circulating sulphur amino acid concentration #Abnormality of sulfur-containing amino acids\n", + " definition of HP:0004339 (Abnormal circulating sulfur amino acid concentration)\n", + " \n", + " \n", + " Fetal scalp mass\n", + " definition of HP:0034246 (Fetal scalp mass)\n", + " \n", + " \n", + " An abnormal growth (lump) of tissue that projects from the fetal scalp.\n", + " definition of HP:0034246 (Fetal scalp mass)\n", + " \n", + " \n", + " EMG: axonal abnormality\n", + " definition of HP:0003482 (EMG: axonal abnormality)\n", + " \n", + " \n", + " Electromyographic (EMG) findings characteristic of axonal neuropathy, with normal or slightly decreased nerve conduction velocities, normal or slightly prolonged distal latencies, but significantly reduced motor potentials and sensory amplitudes. There may be spontaneous activity upon needle EMG studies, such as increased insertional activity, positive sharp waves, and fibrillation potentials.\n", + " definition of HP:0003482 (EMG: axonal abnormality)\n", + " \n", + " \n", + " Perianal anethesia\n", + " definition of HP:0034982 (Perianal anethesia)\n", + " \n", + " \n", + " Loss of sensation to the area of buttocks, perianal space and thighs.\n", + " definition of HP:0034982 (Perianal anethesia)\n", + " \n", + " \n", + " 4-5 metacarpal synostosis\n", + " definition of HP:0005867 (4-5 metacarpal synostosis)\n", + " \n", + " \n", + " #Fused 4th-5th long bones of hand #Fused 4th-5th metacarpals #Fused fourth and fifth metacarpals #Ring finger and little finger metacarpal synostosis #Synostosis of the fourth and fifth metacarpal bones\n", + " definition of HP:0005867 (4-5 metacarpal synostosis)\n", + " \n", + " \n", + " Neoplasm of the skeletal system\n", + " definition of HP:0010622 (Neoplasm of the skeletal system)\n", + " \n", + " \n", + " A tumor (abnormal growth of tissue) of the skeleton.\n", + " definition of HP:0010622 (Neoplasm of the skeletal system)\n", + " \n", + " \n", + " #Skeletal tumor #Skeletal tumour\n", + " definition of HP:0010622 (Neoplasm of the skeletal system)\n", + " \n", + " \n", + " Hematological neoplasm\n", + " definition of HP:0004377 (Hematological neoplasm)\n", + " \n", + " \n", + " Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue).\n", + " definition of HP:0004377 (Hematological neoplasm)\n", + " \n", + " \n", + " #Haematological neoplasm\n", + " definition of HP:0004377 (Hematological neoplasm)\n", + " \n", + " \n", + " Supernumerary tarsal bone\n", + " definition of HP:6000593 (Supernumerary tarsal bone)\n", + " \n", + " \n", + " The presence of an additional tarsal bone that is not one of the canonical tarsal bones (cuboid, medial, intermediate, and lateral cuneiform, navicular, talus, calcaneus).\n", + " definition of HP:6000593 (Supernumerary tarsal bone)\n", + " \n", + " \n", + " #Accessory tarsal bone\n", + " definition of HP:6000593 (Supernumerary tarsal bone)\n", + " \n", + " \n", + " Elevated circulating 3-hydroxyhexadecanoylcarnitine concentration\n", + " definition of HP:0035025 (Elevated circulating 3-hydroxyhexadecanoylcarnitine concentration)\n", + " \n", + " \n", + " Concentration of 3-hydroxyhexadecanoylcarnitine in the blood circulation above the upper limit of normal.\n", + " definition of HP:0035025 (Elevated circulating 3-hydroxyhexadecanoylcarnitine concentration)\n", + " \n", + " \n", + " #Elevated circulating C16-OH acylcarnitine concentration\n", + " definition of HP:0035025 (Elevated circulating 3-hydroxyhexadecanoylcarnitine concentration)\n", + " \n", + " \n", + " Leucine crystalluria\n", + " definition of HP:0020075 (Leucine crystalluria)\n", + " \n", + " \n", + " The presence of leucine crystals in the urine.\n", + " definition of HP:0020075 (Leucine crystalluria)\n", + " \n", + " \n", + " Cerebral ventricular adhesions\n", + " definition of HP:0100311 (Cerebral ventricular adhesions)\n", + " \n", + " \n", + " Bands of scar-like tissue that have formed within a cerebral ventricle.\n", + " definition of HP:0100311 (Cerebral ventricular adhesions)\n", + " \n", + " \n", + " Edema of the upper limbs\n", + " definition of HP:0010742 (Edema of the upper limbs)\n", + " \n", + " \n", + " An abnormal accumulation of fluid beneath the skin of the arms.\n", + " definition of HP:0010742 (Edema of the upper limbs)\n", + " \n", + " \n", + " #Fluid accumulation in upper limbs #Oedema of the upper limbs\n", + " definition of HP:0010742 (Edema of the upper limbs)\n", + " \n", + " \n", + " Dry hair\n", + " definition of HP:0011359 (Dry hair)\n", + " \n", + " \n", + " Hair that lacks the luster (shine or gleam) of normal hair.\n", + " definition of HP:0011359 (Dry hair)\n", + " \n", + " \n", + " #Dry hair\n", + " definition of HP:0011359 (Dry hair)\n", + " \n", + " \n", + " Decreased T-cell ZAP-70 protein expression in CD4-positive T cells\n", + " definition of HP:6001096 (Decreased T-cell ZAP-70 protein expression in CD4-positive T cells)\n", + " \n", + " \n", + " Reduction in the level of ZAP-70 protein CD4-positive T cells.\n", + " definition of HP:6001096 (Decreased T-cell ZAP-70 protein expression in CD4-positive T cells)\n", + " \n", + " \n", + " Ebstein anomaly of the tricuspid valve\n", + " definition of HP:0010316 (Ebstein anomaly of the tricuspid valve)\n", + " \n", + " \n", + " Ebstein's anomaly refers to an abnormally placed and deformed tricuspid valve characterized by apical displacement of the septal and posterior tricuspid valve leaflets, leading to atrialization of the right ventricle with a variable degree of malformation and displacement of the anterior leaflet.\n", + " definition of HP:0010316 (Ebstein anomaly of the tricuspid valve)\n", + " \n", + " \n", + " #Ebstein's anomaly #Ebstein's anomaly of the tricuspid valve #Ebstein's malformation\n", + " definition of HP:0010316 (Ebstein anomaly of the tricuspid valve)\n", + " \n", + " \n", + " Localized skin lesion\n", + " definition of HP:0011355 (Localized skin lesion)\n", + " \n", + " \n", + " A lesion of the skin that is located in a specific region rather than being generalized.\n", + " definition of HP:0011355 (Localized skin lesion)\n", + " \n", + " \n", + " #Localised skin lesion #Localized skin lesion\n", + " definition of HP:0011355 (Localized skin lesion)\n", + " \n", + " \n", + " Impaired collagen-induced platelet aggregation\n", + " definition of HP:0008320 (Impaired collagen-induced platelet aggregation)\n", + " \n", + " \n", + " Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics.\n", + " definition of HP:0008320 (Impaired collagen-induced platelet aggregation)\n", + " \n", + " \n", + " Simulated distance exotropia\n", + " definition of HP:0031720 (Simulated distance exotropia)\n", + " \n", + " \n", + " Exotropia (intermittent or constant) worse for distance fixation in which the near angle of deviation increases (or near exophoria becomes exotropia) with: (1) prolonged disruption of fusion and/or (2) elimination of accommodation.\n", + " definition of HP:0031720 (Simulated distance exotropia)\n", + " \n", + " \n", + " Urinary tract atresia\n", + " definition of HP:0000809 (Urinary tract atresia)\n", + " \n", + " \n", + " Congenital absence of the normal opening of a structure of the urinary tract.\n", + " definition of HP:0000809 (Urinary tract atresia)\n", + " \n", + " \n", + " Unaffected\n", + " definition of HP:0032321 (Unaffected)\n", + " \n", + " \n", + " This term applies to a family member in whom the diagnosis that is the primary focus of investigation is excluded.\n", + " definition of HP:0032321 (Unaffected)\n", + " \n", + " \n", + " Craniopharyngioma\n", + " definition of HP:0030062 (Craniopharyngioma)\n", + " \n", + " \n", + " A benign pituitary-region neoplasm that originates from Rathke's pouch. Craniopharyngiomas are benign slow growing tumors that are located within the sellar and para sellar region of the central nervous system.\n", + " definition of HP:0030062 (Craniopharyngioma)\n", + " \n", + " \n", + " Lactescent serum\n", + " definition of HP:0031028 (Lactescent serum)\n", + " \n", + " \n", + " Serum sample with a grossly white (milk-like, i.e., lactescent) appearance. This feature is indicative of an extremely elevated serum triglyceride level.\n", + " definition of HP:0031028 (Lactescent serum)\n", + " \n", + " \n", + " #Milk-like serum #Plasma lactescence\n", + " definition of HP:0031028 (Lactescent serum)\n", + " \n", + " \n", + " Abnormality of muscle size\n", + " definition of HP:0030236 (Abnormality of muscle size)\n", + " \n", + " \n", + " Abnormalities of the overall muscle bulk based on clinical observation.\n", + " definition of HP:0030236 (Abnormality of muscle size)\n", + " \n", + " \n", + " #Abnormality of muscle size\n", + " definition of HP:0030236 (Abnormality of muscle size)\n", + " \n", + " \n", + " Abnormal trabecular bone morphology\n", + " definition of HP:0100671 (Abnormal trabecular bone morphology)\n", + " \n", + " \n", + " Abnormal structure or form of trabecular bone.\n", + " definition of HP:0100671 (Abnormal trabecular bone morphology)\n", + " \n", + " \n", + " #Abnormal shape of spongy bone #Abnormality of bone trabeculation\n", + " definition of HP:0100671 (Abnormal trabecular bone morphology)\n", + " \n", + " \n", + " Chronic axonal neuropathy\n", + " definition of HP:0007267 (Chronic axonal neuropathy)\n", + " \n", + " \n", + " An abnormality characterized by chronic impairment of the normal functioning of the axons.\n", + " definition of HP:0007267 (Chronic axonal neuropathy)\n", + " \n", + " \n", + " #Chronic sural axonal neuropathy\n", + " definition of HP:0007267 (Chronic axonal neuropathy)\n", + " \n", + " \n", + " Aplasia cutis congenita of midline scalp vertex\n", + " definition of HP:0007536 (Aplasia cutis congenita of midline scalp vertex)\n", + " \n", + " \n", + " Broad distal phalanx of the 2nd finger\n", + " definition of HP:0009558 (Broad distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Increased width of the distal phalanx of the 2nd finger.\n", + " definition of HP:0009558 (Broad distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Wide outermost bone of the index finger\n", + " definition of HP:0009558 (Broad distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Fractured metacarpal bone of digit 1\n", + " definition of HP:0041225 (Fractured metacarpal bone of digit 1)\n", + " \n", + " \n", + " A partial or complete breakage of the metacarpal bone of digit 1.\n", + " definition of HP:0041225 (Fractured metacarpal bone of digit 1)\n", + " \n", + " \n", + " #bone metacarpal bone of digit 1\n", + " definition of HP:0041225 (Fractured metacarpal bone of digit 1)\n", + " \n", + " \n", + " Dimple on nasal tip\n", + " definition of HP:0004132 (Dimple on nasal tip)\n", + " \n", + " \n", + " An abnormal indentation of the skin in the region of the nasal tip.\n", + " definition of HP:0004132 (Dimple on nasal tip)\n", + " \n", + " \n", + " #Dimple on nasal tip #Dimpled tip of nose\n", + " definition of HP:0004132 (Dimple on nasal tip)\n", + " \n", + " \n", + " Hyperparakeratosis\n", + " definition of HP:0040009 (Hyperparakeratosis)\n", + " \n", + " \n", + " Abnormal keratinization of the epidermal stratum coreum (horny layer) with increased keratin formation, preservation of the nuclei in the superficial cells, and absence of the stratum granulosum.\n", + " definition of HP:0040009 (Hyperparakeratosis)\n", + " \n", + " \n", + " Abnormal hand bone ossification\n", + " definition of HP:0010660 (Abnormal hand bone ossification)\n", + " \n", + " \n", + " An abnormality of the formation and mineralization of any bone of the skeleton of hand.\n", + " definition of HP:0010660 (Abnormal hand bone ossification)\n", + " \n", + " \n", + " #Abnormal ossification of hand bones #Abnormality of the mineralisation and ossification of bones of the hand\n", + " definition of HP:0010660 (Abnormal hand bone ossification)\n", + " \n", + " \n", + " Absent epiphyses\n", + " definition of HP:0010577 (Absent epiphyses)\n", + " \n", + " \n", + " #Absent end part of bone\n", + " definition of HP:0010577 (Absent epiphyses)\n", + " \n", + " \n", + " Compound muscle action potential amplitude facilitation\n", + " definition of HP:0025680 (Compound muscle action potential amplitude facilitation)\n", + " \n", + " \n", + " Compound muscle action potential amplitude (CMAP) facilitation denotes an increase in tendon reflexes, strength, or CMAP amplitude after 10 seconds of maximal voluntary contraction.\n", + " definition of HP:0025680 (Compound muscle action potential amplitude facilitation)\n", + " \n", + " \n", + " #CMAP facilitation\n", + " definition of HP:0025680 (Compound muscle action potential amplitude facilitation)\n", + " \n", + " \n", + " Bullet-shaped distal phalanx of the hallux\n", + " definition of HP:0010078 (Bullet-shaped distal phalanx of the hallux)\n", + " \n", + " \n", + " An abnormal morphology of the distal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.\n", + " definition of HP:0010078 (Bullet-shaped distal phalanx of the hallux)\n", + " \n", + " \n", + " #Bullet-shaped outermost bone of big toe\n", + " definition of HP:0010078 (Bullet-shaped distal phalanx of the hallux)\n", + " \n", + " \n", + " Tender\n", + " definition of HP:0025283 (Tender)\n", + " \n", + " \n", + " Applied to pain that is tender, i.e., elicited by touching the affected body part.\n", + " definition of HP:0025283 (Tender)\n", + " \n", + " \n", + " Type 1 collagen overmodification\n", + " definition of HP:0003784 (Type 1 collagen overmodification)\n", + " \n", + " \n", + " Eosinophilic granuloma\n", + " definition of HP:0032253 (Eosinophilic granuloma)\n", + " \n", + " \n", + " A type of granuloma characterized morphologically by the predominance of Langerhans cells with characteristic grooved, folded, indented nuclei in the appropriate milieu that includes variable numbers of eosinophils and histiocytes including multinucleated forms, often appearing similar to osteoclasts or touton like giant cells, neutrophils and small lymphocytes. The concentration of the eosinophilic infiltrate varies from scattered mature cells to sheet-like masses of cells. Occasionally, areas of bone necrosis may interrupt the cellular infiltrate. The foamy cells may also be amassed in clumps, which are of no clinical significance because these clumps represent phagocytosis of lipid debris.\n", + " definition of HP:0032253 (Eosinophilic granuloma)\n", + " \n", + " \n", + " Reduced tissue fructose-1,6-bisphosphatase activity\n", + " definition of HP:0034995 (Reduced tissue fructose-1,6-bisphosphatase activity)\n", + " \n", + " \n", + " Activity of fructose-1,6-bisphosphatase (EC 3.1.3.11) below the lower limit of normal. The activity can be measured in multiple tissues including liver and leukocytes.\n", + " definition of HP:0034995 (Reduced tissue fructose-1,6-bisphosphatase activity)\n", + " \n", + " \n", + " #Reduced hepatic fructose-1,6-bisphosphatase activity #Reduced leukocyte fructose-1,6-bisphosphatase activity\n", + " definition of HP:0034995 (Reduced tissue fructose-1,6-bisphosphatase activity)\n", + " \n", + " \n", + " Genital blistering\n", + " definition of HP:0031464 (Genital blistering)\n", + " \n", + " \n", + " The presence of one or more bullae on the skin of the genital region, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.\n", + " definition of HP:0031464 (Genital blistering)\n", + " \n", + " \n", + " Abnormality of the respiratory system\n", + " definition of HP:0002086 (Abnormality of the respiratory system)\n", + " \n", + " \n", + " An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles.\n", + " definition of HP:0002086 (Abnormality of the respiratory system)\n", + " \n", + " \n", + " #Respiratory abnormality\n", + " definition of HP:0002086 (Abnormality of the respiratory system)\n", + " \n", + " \n", + " Symmetric lesions of the basal ganglia\n", + " definition of HP:0007039 (Symmetric lesions of the basal ganglia)\n", + " \n", + " \n", + " Duodenal gastrinoma\n", + " definition of HP:0034953 (Duodenal gastrinoma)\n", + " \n", + " \n", + " A gastrinoma, a neuroendocrine tumors characterized by the secretion of gastrin with resultant excessive gastric acid production, that is localized to the duodenum.\n", + " definition of HP:0034953 (Duodenal gastrinoma)\n", + " \n", + " \n", + " Type D brachydactyly\n", + " definition of HP:0005627 (Type D brachydactyly)\n", + " \n", + " \n", + " This type of brachydactyly is characterized by short and broad terminal phalanges of the thumbs and big toes.\n", + " definition of HP:0005627 (Type D brachydactyly)\n", + " \n", + " \n", + " #Brachydactyly type D\n", + " definition of HP:0005627 (Type D brachydactyly)\n", + " \n", + " \n", + " Mediastinal teratoma\n", + " definition of HP:0030741 (Mediastinal teratoma)\n", + " \n", + " \n", + " A teratoma located within the mediastinum (the cavity between the pleural sacs that contains the heart and all of the thoracic viscera except the lungs).\n", + " definition of HP:0030741 (Mediastinal teratoma)\n", + " \n", + " \n", + " #Teratoma of the mediastinum\n", + " definition of HP:0030741 (Mediastinal teratoma)\n", + " \n", + " \n", + " Abnormal dark-adapted dim flash electroretinogram\n", + " definition of HP:0030471 (Abnormal dark-adapted dim flash electroretinogram)\n", + " \n", + " \n", + " Tessier number 4 facial cleft\n", + " definition of HP:0031576 (Tessier number 4 facial cleft)\n", + " \n", + " \n", + " The cleft lip is midway between the philtral ridge and the commissure of the mouth. The cleft is lateral to the normally shaped and placed nasal ala and passes onto the cheek. The cleft extends through the lower eyelid lateral to the punctum. The lacrimal system and inner canthus are normal. Microphthalmia may be present. The alveolar cleft passes between the lateral incisor and canine, as in the Number 3 cleft. The cleft passes around the pyriform aperture and continues through the portion of the maxillary sinus medial to the infraorbital foramen. The cleft terminates at the medial end of the inferior orbital rim. There is severe vertical soft tissue deficiency in a Number 4 cleft, with the medial margins of the cleft lip extending directly into the medially placed cleft of the lower eyelid. Within the medial segment of the right-sided cleft lip, muscle elements are apparently absent. Muscle bunching is noted in the ipsilateral lateral lip segment, as is seen in a typical unilateral cleft lip. The anatomically normal nasal ala is superiorly displaced in association with a severe deficiency in the overall nasal length. Marked dystopia of the right globe results in its inferior displacement into the medially deficient orbital floor and inferior rim. Both globes are otherwise normal. The complete palatal cleft passes through the maxilla medial to the infraorbital foramen and extends to the medial portion of the inferior orbital rim without evidence of an intact maxillary sinus. Bony septation persists medially, thereby separating the nasal cavity from the orbit, maxillary sinus, and mouth, which are contiguous. Marked midfacial hypoplasia is present. The cleft is manifest as asymmetry of the body of the sphenoid; it is smaller on the right, with asymmetric placement of the pterygoid plates relative to the midline. The orbital floor cleft has no communication with the inferior orbital fissure. The cleft does not extend to the skull base, but there is marked facial asymmetry associated with plagiocephaly.\n", + " definition of HP:0031576 (Tessier number 4 facial cleft)\n", + " \n", + " \n", + " Medial rectus muscle restriction\n", + " definition of HP:0031757 (Medial rectus muscle restriction)\n", + " \n", + " \n", + " Mechanical limitation of the range of movement of the medial rectus muscle.\n", + " definition of HP:0031757 (Medial rectus muscle restriction)\n", + " \n", + " \n", + " Ankylosis of feet small joints\n", + " definition of HP:0008090 (Ankylosis of feet small joints)\n", + " \n", + " \n", + " Amniotic constriction rings of arms\n", + " definition of HP:0010483 (Amniotic constriction rings of arms)\n", + " \n", + " \n", + " Amniotic constriction rings affecting the arms.\n", + " definition of HP:0010483 (Amniotic constriction rings of arms)\n", + " \n", + " \n", + " Absent pulmonary artery\n", + " definition of HP:0004960 (Absent pulmonary artery)\n", + " \n", + " \n", + " A congenital defect with aplasia (absence) of one of the right or left pulmonary artery.\n", + " definition of HP:0004960 (Absent pulmonary artery)\n", + " \n", + " \n", + " #Absent lung artery #Missing pulmonary artery\n", + " definition of HP:0004960 (Absent pulmonary artery)\n", + " \n", + " \n", + " Flexion contracture\n", + " definition of HP:0001371 (Flexion contracture)\n", + " \n", + " \n", + " A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.\n", + " definition of HP:0001371 (Flexion contracture)\n", + " \n", + " \n", + " #Flexed joint that cannot be straightened #Flexion contractures #Flexion contractures of joints\n", + " definition of HP:0001371 (Flexion contracture)\n", + " \n", + " \n", + " Ameliorated by ethosuximide\n", + " definition of HP:0034759 (Ameliorated by ethosuximide)\n", + " \n", + " \n", + " Applies to a sign or symptom that is improved or made more bearable by administration of ethosuximide. Ethosuximide is most often used to treat absence seizures.\n", + " definition of HP:0034759 (Ameliorated by ethosuximide)\n", + " \n", + " \n", + " Erythematous oral mucosa\n", + " definition of HP:0034418 (Erythematous oral mucosa)\n", + " \n", + " \n", + " An erythematous lesion of the oral mucosa may result from a variety of tissue alterations, including inflammation, erythrocyte extravasation, and atrophy or reduced keratinization of the surface epithelium.\n", + " definition of HP:0034418 (Erythematous oral mucosa)\n", + " \n", + " \n", + " #Oral mucosa erythema\n", + " definition of HP:0034418 (Erythematous oral mucosa)\n", + " \n", + " \n", + " Aortic dissection\n", + " definition of HP:0002647 (Aortic dissection)\n", + " \n", + " \n", + " Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta.\n", + " definition of HP:0002647 (Aortic dissection)\n", + " \n", + " \n", + " #Tear in inner wall of large artery that carries blood away from heart\n", + " definition of HP:0002647 (Aortic dissection)\n", + " \n", + " \n", + " Sclerosis of 5th finger phalanx\n", + " definition of HP:0100921 (Sclerosis of 5th finger phalanx)\n", + " \n", + " \n", + " An elevation in bone density in one or more phalanges of the fifth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity.\n", + " definition of HP:0100921 (Sclerosis of 5th finger phalanx)\n", + " \n", + " \n", + " #Increased bone density in little finger bone #Increased bone density in pinkie finger bone #Increased bone density in pinky finger bone #Sclerosis of the phalanges of the 5th finger\n", + " definition of HP:0100921 (Sclerosis of 5th finger phalanx)\n", + " \n", + " \n", + " Increased neutrophil nuclear projections\n", + " definition of HP:0012552 (Increased neutrophil nuclear projections)\n", + " \n", + " \n", + " Presence of an elevated number of projections from nuclei of neutrophils. These projections can have the shape of hooks, tags, or clubs.\n", + " definition of HP:0012552 (Increased neutrophil nuclear projections)\n", + " \n", + " \n", + " Elevated circulating 3-hydroxypalmitoleylcarnitine concentration\n", + " definition of HP:0033464 (Elevated circulating 3-hydroxypalmitoleylcarnitine concentration)\n", + " \n", + " \n", + " Concentration of 3-hydroxypalmitoleylcarnitine in the blood circulation above the upper limit of normal.\n", + " definition of HP:0033464 (Elevated circulating 3-hydroxypalmitoleylcarnitine concentration)\n", + " \n", + " \n", + " #Elevated circulating 3-OH-palmitoleylcarnitine concentration #Elevated plasma 3-OH-Palmitoleylcarnitine, C16:1-OH\n", + " definition of HP:0033464 (Elevated circulating 3-hydroxypalmitoleylcarnitine concentration)\n", + " \n", + " \n", + " Elevated urinary 2,4-dihydroxyglutarate level\n", + " definition of HP:6001081 (Elevated urinary 2,4-dihydroxyglutarate level)\n", + " \n", + " \n", + " The amount of 2,4-dihydroxyglutarate in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6001081 (Elevated urinary 2,4-dihydroxyglutarate level)\n", + " \n", + " \n", + " Asymmetrical distribution of pattern reversal visual evoked potentials\n", + " definition of HP:0030464 (Asymmetrical distribution of pattern reversal visual evoked potentials)\n", + " \n", + " \n", + " #Crossed asymmetry of pattern reversal visual evoked potentials\n", + " definition of HP:0030464 (Asymmetrical distribution of pattern reversal visual evoked potentials)\n", + " \n", + " \n", + " Very frequent\n", + " definition of HP:0040281 (Very frequent)\n", + " \n", + " \n", + " Present in 80% to 99% of the cases.\n", + " definition of HP:0040281 (Very frequent)\n", + " \n", + " \n", + " #Very frequent (99-80%)\n", + " definition of HP:0040281 (Very frequent)\n", + " \n", + " \n", + " Double aortic arch\n", + " definition of HP:0011590 (Double aortic arch)\n", + " \n", + " \n", + " A conenital abnormality of the aortic arch in which the two embryonic aortc arches form a vascular ring that surrounds the trachea or esophagus and then join to form the descending aorta. Double aortic arch can cause symptoms because of compression of the esophagus (dysphagia, cyanosis while eating) or trachea (stridor).\n", + " definition of HP:0011590 (Double aortic arch)\n", + " \n", + " \n", + " Anti-phospholipase A2 receptor antibody positivity\n", + " definition of HP:0034002 (Anti-phospholipase A2 receptor antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the phospholipase A2 receptor.\n", + " definition of HP:0034002 (Anti-phospholipase A2 receptor antibody positivity)\n", + " \n", + " \n", + " #Anti-PLA2R antibody positivity\n", + " definition of HP:0034002 (Anti-phospholipase A2 receptor antibody positivity)\n", + " \n", + " \n", + " Elevated dermal desmosine content\n", + " definition of HP:0025083 (Elevated dermal desmosine content)\n", + " \n", + " \n", + " An increased amount of desmosine measure in the skin. Desmosine is a cross-linking amino acid formed from lysyl residues in elastin.\n", + " definition of HP:0025083 (Elevated dermal desmosine content)\n", + " \n", + " \n", + " Abnormality of the inner ear\n", + " definition of HP:0000359 (Abnormality of the inner ear)\n", + " \n", + " \n", + " An abnormality of the inner ear.\n", + " definition of HP:0000359 (Abnormality of the inner ear)\n", + " \n", + " \n", + " #Abnormality of the inner ear #Inner ear abnormality\n", + " definition of HP:0000359 (Abnormality of the inner ear)\n", + " \n", + " \n", + " Increased anti-dust mite IgE antibody level\n", + " definition of HP:0410223 (Increased anti-dust mite IgE antibody level)\n", + " \n", + " \n", + " Increased level of IgE antibody against dust mites, such as house dust mites.\n", + " definition of HP:0410223 (Increased anti-dust mite IgE antibody level)\n", + " \n", + " \n", + " #Increased level of anti-dust mite IgE antibody\n", + " definition of HP:0410223 (Increased anti-dust mite IgE antibody level)\n", + " \n", + " \n", + " Fixed facial expression\n", + " definition of HP:0005329 (Fixed facial expression)\n", + " \n", + " \n", + " #Fixed facial expression #Unchanging facial expression\n", + " definition of HP:0005329 (Fixed facial expression)\n", + " \n", + " \n", + " Anti-phosphatidyl choline antibody positivity\n", + " definition of HP:0034097 (Anti-phosphatidyl choline antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl choline.\n", + " definition of HP:0034097 (Anti-phosphatidyl choline antibody positivity)\n", + " \n", + " \n", + " Esophageal obstruction\n", + " definition of HP:0005240 (Esophageal obstruction)\n", + " \n", + " \n", + " Cranial nerve motor loss\n", + " definition of HP:0007097 (Cranial nerve motor loss)\n", + " \n", + " \n", + " Facial flushing after alcohol intake\n", + " definition of HP:0001033 (Facial flushing after alcohol intake)\n", + " \n", + " \n", + " #Facial flushing after alcohol intake\n", + " definition of HP:0001033 (Facial flushing after alcohol intake)\n", + " \n", + " \n", + " Tubulonodular pericallosal lipoma\n", + " definition of HP:0034014 (Tubulonodular pericallosal lipoma)\n", + " \n", + " \n", + " A type of pericallosal lipoma with a rounded or lobular appearance and a diameter that is usually above 2 cm. They are anteriorly situated and are associated with extensive callosal and often fronto-facial anomalies. A tubulonodular pericallosal lipoma can extend into the choroid plexus or lateral ventricles.\n", + " definition of HP:0034014 (Tubulonodular pericallosal lipoma)\n", + " \n", + " \n", + " Cone-shaped epiphysis of the distal phalanx of the 4th finger\n", + " definition of HP:0009252 (Cone-shaped epiphysis of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " A cone-shaped appearance of the epiphysis of the distal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.\n", + " definition of HP:0009252 (Cone-shaped epiphysis of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " #Cone-shaped end part of the outermost bone of the ring finger\n", + " definition of HP:0009252 (Cone-shaped epiphysis of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " Coralliform cataract\n", + " definition of HP:0010921 (Coralliform cataract)\n", + " \n", + " \n", + " A 'coral-like' pattern of opacity in the lens of the eye. That is, a cataract with an irregular, stellate form.\n", + " definition of HP:0010921 (Coralliform cataract)\n", + " \n", + " \n", + " Gastrointestinal telangiectasia\n", + " definition of HP:0002604 (Gastrointestinal telangiectasia)\n", + " \n", + " \n", + " Telangiectasia affecting the gastrointestinal tract.\n", + " definition of HP:0002604 (Gastrointestinal telangiectasia)\n", + " \n", + " \n", + " #GI telangiectasia #Small, enlarged blood vessels near skin\n", + " definition of HP:0002604 (Gastrointestinal telangiectasia)\n", + " \n", + " \n", + " Anterior pituitary dysgenesis\n", + " definition of HP:0010625 (Anterior pituitary dysgenesis)\n", + " \n", + " \n", + " Absence or underdevelopment of the anterior pituitary gland, also known as the adenohypophysis.\n", + " definition of HP:0010625 (Anterior pituitary dysgenesis)\n", + " \n", + " \n", + " #Adenohypophysis\n", + " definition of HP:0010625 (Anterior pituitary dysgenesis)\n", + " \n", + " \n", + " Arteriovenous malformation of the lip\n", + " definition of HP:0031488 (Arteriovenous malformation of the lip)\n", + " \n", + " \n", + " A vascular malformation located in the lip that is characterized by direct blood shunting from an artery to a vein due to the absence of a capillary bed. The artery and vein can be directly connected by a fistula or indirectly connected by an abnormal vessel channel termed a nidus.\n", + " definition of HP:0031488 (Arteriovenous malformation of the lip)\n", + " \n", + " \n", + " #Atypical connection between arteries and veins\n", + " definition of HP:0031488 (Arteriovenous malformation of the lip)\n", + " \n", + " \n", + " Hypoplasia of the epiglottis\n", + " definition of HP:0005349 (Hypoplasia of the epiglottis)\n", + " \n", + " \n", + " Hypoplasia of the epiglottis.\n", + " definition of HP:0005349 (Hypoplasia of the epiglottis)\n", + " \n", + " \n", + " #Hypoplastic epiglottis\n", + " definition of HP:0005349 (Hypoplasia of the epiglottis)\n", + " \n", + " \n", + " Red-green dyschromatopsia\n", + " definition of HP:0000642 (Red-green dyschromatopsia)\n", + " \n", + " \n", + " Difficulty with discriminating red and green hues.\n", + " definition of HP:0000642 (Red-green dyschromatopsia)\n", + " \n", + " \n", + " #Dyschromatopsia with red-green confusion #Red green color blindness #Red green colour blindness\n", + " definition of HP:0000642 (Red-green dyschromatopsia)\n", + " \n", + " \n", + " Duodenal diverticula\n", + " definition of HP:0004800 (Duodenal diverticula)\n", + " \n", + " \n", + " Hyposerinemia\n", + " definition of HP:0012279 (Hyposerinemia)\n", + " \n", + " \n", + " Reduced concentration of serine in the blood.\n", + " definition of HP:0012279 (Hyposerinemia)\n", + " \n", + " \n", + " #Low blood serine levels\n", + " definition of HP:0012279 (Hyposerinemia)\n", + " \n", + " \n", + " Speech articulation difficulties\n", + " definition of HP:0009088 (Speech articulation difficulties)\n", + " \n", + " \n", + " Impairment in the physical production of speech sounds.\n", + " definition of HP:0009088 (Speech articulation difficulties)\n", + " \n", + " \n", + " Paroxysmal supraventricular tachycardia\n", + " definition of HP:0004763 (Paroxysmal supraventricular tachycardia)\n", + " \n", + " \n", + " An episodic form of supraventricular tachycardia with abrupt onset and termination.\n", + " definition of HP:0004763 (Paroxysmal supraventricular tachycardia)\n", + " \n", + " \n", + " #Episodic supraventricular tachycardia\n", + " definition of HP:0004763 (Paroxysmal supraventricular tachycardia)\n", + " \n", + " \n", + " Cone-shaped epiphyses of the hallux\n", + " definition of HP:0010115 (Cone-shaped epiphyses of the hallux)\n", + " \n", + " \n", + " #Cone-shaped end part of the big toe bone\n", + " definition of HP:0010115 (Cone-shaped epiphyses of the hallux)\n", + " \n", + " \n", + " Elevated muscle fiber laminin alpha 5 expression\n", + " definition of HP:6000659 (Elevated muscle fiber laminin alpha 5 expression)\n", + " \n", + " \n", + " A decreased amount of laminin alpha-5 in muscle tissue. This feature can be shown by immunohistochemistry or Western blotting of muscle tissue. Laminin subunit alpha-5 is a protein encoded by the LAMA5 gene.\n", + " definition of HP:6000659 (Elevated muscle fiber laminin alpha 5 expression)\n", + " \n", + " \n", + " Absent cavum septum pellucidum\n", + " definition of HP:4000138 (Absent cavum septum pellucidum)\n", + " \n", + " \n", + " The cavum septum pellucidum (CSP) is an important fetal midline forebrain landmark that is normally visible by prenatal sonography. This term refers to the lack of visibility of the CSP on prenatal sonography. The CSP normally can be visualized between 18 and 37 weeks of gestation. Lack of visualization of the CSP in this time period generally requires follow up and may indicate the presence of underlying malformations such as malformations of the corpus callosum. The lack of CSP before 18 weeks or after 37 weeks of gestation (or postnatally) is considered a normal finding.\n", + " definition of HP:4000138 (Absent cavum septum pellucidum)\n", + " \n", + " \n", + " Saccharopinuria\n", + " definition of HP:0034028 (Saccharopinuria)\n", + " \n", + " \n", + " Presence of saccharopine in the urine.\n", + " definition of HP:0034028 (Saccharopinuria)\n", + " \n", + " \n", + " Abnormal lymph-node cellular antigen expression\n", + " definition of HP:0020233 (Abnormal lymph-node cellular antigen expression)\n", + " \n", + " \n", + " Abnormal expression of an antigen (marker) that by cells located in a lymph node.\n", + " definition of HP:0020233 (Abnormal lymph-node cellular antigen expression)\n", + " \n", + " \n", + " Chiari malformation\n", + " definition of HP:0002308 (Chiari malformation)\n", + " \n", + " \n", + " Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow.\n", + " definition of HP:0002308 (Chiari malformation)\n", + " \n", + " \n", + " #Arnold-Chiari malformation\n", + " definition of HP:0002308 (Chiari malformation)\n", + " \n", + " \n", + " Cystocele\n", + " definition of HP:0100645 (Cystocele)\n", + " \n", + " \n", + " Anterior vaginal wall prolapse with bulging of the bladder into the vagina.\n", + " definition of HP:0100645 (Cystocele)\n", + " \n", + " \n", + " #Bladder hernia #Bladder prolapse #Dropped bladder #Prolapsed bladder\n", + " definition of HP:0100645 (Cystocele)\n", + " \n", + " \n", + " Food-induced anaphylaxis\n", + " definition of HP:0500095 (Food-induced anaphylaxis)\n", + " \n", + " \n", + " Food-induced anaphylaxis is a severe, potentially fatal, systemic allergic reaction that occurs suddenly after contact with an allergy-causing food.\n", + " definition of HP:0500095 (Food-induced anaphylaxis)\n", + " \n", + " \n", + " Nonarteritic anterior ischemic optic neuropathy\n", + " definition of HP:0007634 (Nonarteritic anterior ischemic optic neuropathy)\n", + " \n", + " \n", + " An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disk or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates.\n", + " definition of HP:0007634 (Nonarteritic anterior ischemic optic neuropathy)\n", + " \n", + " \n", + " #Nonarteritic anterior ischaemic optic neuropathy\n", + " definition of HP:0007634 (Nonarteritic anterior ischemic optic neuropathy)\n", + " \n", + " \n", + " Hyperhomocystinemia\n", + " definition of HP:0002160 (Hyperhomocystinemia)\n", + " \n", + " \n", + " An increased concentration of homocystine in the blood.\n", + " definition of HP:0002160 (Hyperhomocystinemia)\n", + " \n", + " \n", + " #Elevated blood homocystine #Homocystinemia\n", + " definition of HP:0002160 (Hyperhomocystinemia)\n", + " \n", + " \n", + " Cotard delusion\n", + " definition of HP:5200422 (Cotard delusion)\n", + " \n", + " \n", + " A false belief that you or your body parts are dead, dying, or do not exist.\n", + " definition of HP:5200422 (Cotard delusion)\n", + " \n", + " \n", + " #Cotard syndrome\n", + " definition of HP:5200422 (Cotard delusion)\n", + " \n", + " \n", + " Abnormal circulating alpha-L-fucosidase activity\n", + " definition of HP:0034728 (Abnormal circulating alpha-L-fucosidase activity)\n", + " \n", + " \n", + " Activity of the enzyme alpha-L-fucosidase in the blood circulation outside the limits of normal.\n", + " definition of HP:0034728 (Abnormal circulating alpha-L-fucosidase activity)\n", + " \n", + " \n", + " Elevated circulating dimethyl sterol concentration\n", + " definition of HP:6000754 (Elevated circulating dimethyl sterol concentration)\n", + " \n", + " \n", + " The concentration of dimethylsterols in the blood circulation is above the upper limit of normal.\n", + " definition of HP:6000754 (Elevated circulating dimethyl sterol concentration)\n", + " \n", + " \n", + " Intussusception\n", + " definition of HP:0002576 (Intussusception)\n", + " \n", + " \n", + " An abnormality of the intestine in which part of the intestine invaginates (telescopes) into another part of the intestine.\n", + " definition of HP:0002576 (Intussusception)\n", + " \n", + " \n", + " Iridescent posterior subcapsular cataract\n", + " definition of HP:0007889 (Iridescent posterior subcapsular cataract)\n", + " \n", + " \n", + " A type of posterior subcapsular cataract characterized by an iridescent color.\n", + " definition of HP:0007889 (Iridescent posterior subcapsular cataract)\n", + " \n", + " \n", + " #Cataracts, posterior, subcapsular, iridescent\n", + " definition of HP:0007889 (Iridescent posterior subcapsular cataract)\n", + " \n", + " \n", + " Reduced tissue carnitine-acylcarnitine translocase activity\n", + " definition of HP:6000574 (Reduced tissue carnitine-acylcarnitine translocase activity)\n", + " \n", + " \n", + " Activity of carnitine-acylcarnitine translocase (CACT) in tissues below the lower limit of normal. CACT activity can be measured in multiple tissues.\n", + " definition of HP:6000574 (Reduced tissue carnitine-acylcarnitine translocase activity)\n", + " \n", + " \n", + " Congenital mesoblastic nephroma\n", + " definition of HP:0100881 (Congenital mesoblastic nephroma)\n", + " \n", + " \n", + " Congenital mesoblastic nephroma is a type of kidney tumor that is usually found before birth by ultrasound or within the first 3 months of life. It contains fibroblastic cells (connective tissue cells), and may spread to the other kidney or to nearby tissue.\n", + " definition of HP:0100881 (Congenital mesoblastic nephroma)\n", + " \n", + " \n", + " Perifollicular hyperkeratosis\n", + " definition of HP:0007468 (Perifollicular hyperkeratosis)\n", + " \n", + " \n", + " Increased amount of keratin (visible as white scales) surrounding hair follicles.\n", + " definition of HP:0007468 (Perifollicular hyperkeratosis)\n", + " \n", + " \n", + " Decreased circulating apolipoprotein C-II concentration\n", + " definition of HP:0033983 (Decreased circulating apolipoprotein C-II concentration)\n", + " \n", + " \n", + " Reduced concentration of apolipoprotein C-II in the blood circulation.\n", + " definition of HP:0033983 (Decreased circulating apolipoprotein C-II concentration)\n", + " \n", + " \n", + " #Decreased plasma apolipoprotein C-II\n", + " definition of HP:0033983 (Decreased circulating apolipoprotein C-II concentration)\n", + " \n", + " \n", + " Positive regitine blocking test\n", + " definition of HP:0003574 (Positive regitine blocking test)\n", + " \n", + " \n", + " A positive response to the regitine blocking test consisting of a substantial reduction in blood pressure following administration of regitine, indicative of the presence of increased levels of epinephrine and norepinephrine in the circulation, which is seen in pheochromocytoma-associated hypertension.\n", + " definition of HP:0003574 (Positive regitine blocking test)\n", + " \n", + " \n", + " Abnormal jaw morphology\n", + " definition of HP:0030791 (Abnormal jaw morphology)\n", + " \n", + " \n", + " A structural anomaly of the jaw, the bony structure of the mouth that consists of the mandible and the maxilla.\n", + " definition of HP:0030791 (Abnormal jaw morphology)\n", + " \n", + " \n", + " Retinopathy of prematurity pre-plus\n", + " definition of HP:0500063 (Retinopathy of prematurity pre-plus)\n", + " \n", + " \n", + " As vascular abnormalities of the posterior pole that are insufficient for the diagnosis of plus disease but that demonstrate more arterial tortuosity and more venous dilatation than normal.\n", + " definition of HP:0500063 (Retinopathy of prematurity pre-plus)\n", + " \n", + " \n", + " #ROP pre-plus\n", + " definition of HP:0500063 (Retinopathy of prematurity pre-plus)\n", + " \n", + " \n", + " Chronic mucocutaneous candidiasis\n", + " definition of HP:0002728 (Chronic mucocutaneous candidiasis)\n", + " \n", + " \n", + " Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails.\n", + " definition of HP:0002728 (Chronic mucocutaneous candidiasis)\n", + " \n", + " \n", + " #Chronic candidiasis of mucosa, skin and nails #Mucocutaneous candidiasis\n", + " definition of HP:0002728 (Chronic mucocutaneous candidiasis)\n", + " \n", + " \n", + " Elevated circulating CXCL10 concentration\n", + " definition of HP:6000486 (Elevated circulating CXCL10 concentration)\n", + " \n", + " \n", + " The concentration of C-X-C motif chemokine 10 (CXCL10) in the blood circulation is above the upper limit of normal.\n", + " definition of HP:6000486 (Elevated circulating CXCL10 concentration)\n", + " \n", + " \n", + " Glomerular immune-complex deposition\n", + " definition of HP:6000668 (Glomerular immune-complex deposition)\n", + " \n", + " \n", + " Accumulation of immune deposits, containing immunoglobulins, complement, and other proteins, at various intraglomerular locations. This can lead to glomerulonephritis, with the type of injury that results being dependent on four factors: the mechanism of the deposit formation, the site of deposit formation, the composition of the deposits and the amount of the deposits.\n", + " definition of HP:6000668 (Glomerular immune-complex deposition)\n", + " \n", + " \n", + " Bilateral intracerebral calcifications\n", + " definition of HP:0005671 (Bilateral intracerebral calcifications)\n", + " \n", + " \n", + " Deposition of calcium salts on both sides of the cerebrum.\n", + " definition of HP:0005671 (Bilateral intracerebral calcifications)\n", + " \n", + " \n", + " #Bilateral intracranial calcifications\n", + " definition of HP:0005671 (Bilateral intracerebral calcifications)\n", + " \n", + " \n", + " Iniencephaly\n", + " definition of HP:0034205 (Iniencephaly)\n", + " \n", + " \n", + " Iniencephaly is a rare neural tube defect involving dysmorphic spine and abnormal fusion of the portion of the occipital skull with the back. It results in extreme fixed head retroflexion.\n", + " definition of HP:0034205 (Iniencephaly)\n", + " \n", + " \n", + " Enlarged posterior fossa\n", + " definition of HP:0005445 (Enlarged posterior fossa)\n", + " \n", + " \n", + " Abnormal increased size of the posterior cranial fossa.\n", + " definition of HP:0005445 (Enlarged posterior fossa)\n", + " \n", + " \n", + " #Widened posterior fossa\n", + " definition of HP:0005445 (Enlarged posterior fossa)\n", + " \n", + " \n", + " Patchy sclerosis of the distal phalanx of the 4th finger\n", + " definition of HP:0009304 (Patchy sclerosis of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " Uneven (irregular) increase in bone density of the distal phalanx of the fourth finger.\n", + " definition of HP:0009304 (Patchy sclerosis of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " #Uneven increase in bone density in the outermost bone of the ring finger\n", + " definition of HP:0009304 (Patchy sclerosis of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " Anterior synechiae of the anterior chamber\n", + " definition of HP:0011483 (Anterior synechiae of the anterior chamber)\n", + " \n", + " \n", + " Adhesions between the iris and the cornea.\n", + " definition of HP:0011483 (Anterior synechiae of the anterior chamber)\n", + " \n", + " \n", + " #Anterior synechiae #Cornea-iris adhesion #Iridocorneal adhesions #Iridocorneal synechia\n", + " definition of HP:0011483 (Anterior synechiae of the anterior chamber)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the 5th metacarpal\n", + " definition of HP:0010045 (Aplasia/Hypoplasia of the 5th metacarpal)\n", + " \n", + " \n", + " Aplasia or Hypoplasia affecting the 5th metacarpal.\n", + " definition of HP:0010045 (Aplasia/Hypoplasia of the 5th metacarpal)\n", + " \n", + " \n", + " #Absent/small 5th long bone of hand #Absent/underdeveloped 5th long bone of hand\n", + " definition of HP:0010045 (Aplasia/Hypoplasia of the 5th metacarpal)\n", + " \n", + " \n", + " Cheilitis\n", + " definition of HP:0100825 (Cheilitis)\n", + " \n", + " \n", + " Inflammation of the lip.\n", + " definition of HP:0100825 (Cheilitis)\n", + " \n", + " \n", + " #Inflammation of the lips\n", + " definition of HP:0100825 (Cheilitis)\n", + " \n", + " \n", + " Broad long bones\n", + " definition of HP:0005622 (Broad long bones)\n", + " \n", + " \n", + " Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately.\n", + " definition of HP:0005622 (Broad long bones)\n", + " \n", + " \n", + " #Broad long bones #Wide long bones #Widened long bones\n", + " definition of HP:0005622 (Broad long bones)\n", + " \n", + " \n", + " Abnormal urinary creatine level\n", + " definition of HP:6000747 (Abnormal urinary creatine level)\n", + " \n", + " \n", + " The amount of creatine in the urine, normalized for urine concentration, is outside the limits of normal.\n", + " definition of HP:6000747 (Abnormal urinary creatine level)\n", + " \n", + " \n", + " Decreased platelet glycoprotein VI\n", + " definition of HP:0011881 (Decreased platelet glycoprotein VI)\n", + " \n", + " \n", + " Decreased cell membrane concentration of glycoprotein VI.\n", + " definition of HP:0011881 (Decreased platelet glycoprotein VI)\n", + " \n", + " \n", + " T2 hypointense thalamus\n", + " definition of HP:0012690 (T2 hypointense thalamus)\n", + " \n", + " \n", + " A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a diffuse hypointensity affecting the entire thalamus.\n", + " definition of HP:0012690 (T2 hypointense thalamus)\n", + " \n", + " \n", + " Abnormal ossification of the sacrum\n", + " definition of HP:0025370 (Abnormal ossification of the sacrum)\n", + " \n", + " \n", + " Abnormal bone tissue formation (ossification) affecting the sacrum.\n", + " definition of HP:0025370 (Abnormal ossification of the sacrum)\n", + " \n", + " \n", + " Nasal mucosa vasculitis\n", + " definition of HP:0034920 (Nasal mucosa vasculitis)\n", + " \n", + " \n", + " Inflammation of blood vessels in the mucosa of the nasal cavity.\n", + " definition of HP:0034920 (Nasal mucosa vasculitis)\n", + " \n", + " \n", + " Abnormality of the uterus\n", + " definition of HP:0000130 (Abnormality of the uterus)\n", + " \n", + " \n", + " An abnormality of the uterus.\n", + " definition of HP:0000130 (Abnormality of the uterus)\n", + " \n", + " \n", + " #Abnormality of the uterus #Uterine abnormalities #Uterine malformations\n", + " definition of HP:0000130 (Abnormality of the uterus)\n", + " \n", + " \n", + " Focal impaired awareness sensory seizure with cephalic sensation\n", + " definition of HP:0032878 (Focal impaired awareness sensory seizure with cephalic sensation)\n", + " \n", + " \n", + " A focal sensory seizure with cephalic sensation in which awareness is partially or fully impaired at some point during the seizure.\n", + " definition of HP:0032878 (Focal impaired awareness sensory seizure with cephalic sensation)\n", + " \n", + " \n", + " Distinctive finding\n", + " definition of HP:0045089 (Distinctive finding)\n", + " \n", + " \n", + " In clinical parlance, findings are occasionally interpreted as being distinctive or minor, reflecting a subjective clinical impression of the importance of a feature for the differential diagnosis. A minor finding is taken to be one that is likely to have high utility in distinguishing the correct diagnosis from other candidates in the differential.\n", + " definition of HP:0045089 (Distinctive finding)\n", + " \n", + " \n", + " Fibular duplication\n", + " definition of HP:0010503 (Fibular duplication)\n", + " \n", + " \n", + " Duplication of the fibula. This may occur as a part of diplopodia (accessory tarsal or metatarsal bone). Diplopodia with double fibula is an extremely rare condition.\n", + " definition of HP:0010503 (Fibular duplication)\n", + " \n", + " \n", + " #Duplicated calf bone\n", + " definition of HP:0010503 (Fibular duplication)\n", + " \n", + " \n", + " Bell-shaped thorax\n", + " definition of HP:0001591 (Bell-shaped thorax)\n", + " \n", + " \n", + " The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter.\n", + " definition of HP:0001591 (Bell-shaped thorax)\n", + " \n", + " \n", + " #Bell-shaped chest #Constricted, bell-shaped thorax #Narrow, bell-shaped thorax\n", + " definition of HP:0001591 (Bell-shaped thorax)\n", + " \n", + " \n", + " Increased red cell hemolysis by shear stress\n", + " definition of HP:0008269 (Increased red cell hemolysis by shear stress)\n", + " \n", + " \n", + " Uni- and bilateral multifocal epileptiform discharges\n", + " definition of HP:0011190 (Uni- and bilateral multifocal epileptiform discharges)\n", + " \n", + " \n", + " Epileptiform discharges identified at multiple locations temporarily in both hemispheres and temporarily in one hemisphere.\n", + " definition of HP:0011190 (Uni- and bilateral multifocal epileptiform discharges)\n", + " \n", + " \n", + " Hemiatrophy of lower limb\n", + " definition of HP:0100557 (Hemiatrophy of lower limb)\n", + " \n", + " \n", + " Unilateral atrophy (reduction in size) of a leg.\n", + " definition of HP:0100557 (Hemiatrophy of lower limb)\n", + " \n", + " \n", + " #Asymmetric lower limb shortening\n", + " definition of HP:0100557 (Hemiatrophy of lower limb)\n", + " \n", + " \n", + " Broad jaw\n", + " definition of HP:0012802 (Broad jaw)\n", + " \n", + " \n", + " Bigonial distance (lower facial width) more than 2 SD above the mean (objective); or an apparently increased width of the lower jaw (mandible) when viewed from the front (subjective).\n", + " definition of HP:0012802 (Broad jaw)\n", + " \n", + " \n", + " #Broad jaw #Broad lower face #Broad mandible #Wide jaw #Wide mandible\n", + " definition of HP:0012802 (Broad jaw)\n", + " \n", + " \n", + " Complete duplication of the distal phalanx of the 5th toe\n", + " definition of HP:0100409 (Complete duplication of the distal phalanx of the 5th toe)\n", + " \n", + " \n", + " Complete duplication of the distal phalanx of little toe.\n", + " definition of HP:0100409 (Complete duplication of the distal phalanx of the 5th toe)\n", + " \n", + " \n", + " #Complete duplication of the distal phalanx of the fifth toe #Complete duplication of the outermost bone of the little toe #Complete duplication of the outermost bone of the pinkie toe #Complete duplication of the outermost bone of the pinky toe\n", + " definition of HP:0100409 (Complete duplication of the distal phalanx of the 5th toe)\n", + " \n", + " \n", + " Abnormality of the middle phalanx of the 4th toe\n", + " definition of HP:0010381 (Abnormality of the middle phalanx of the 4th toe)\n", + " \n", + " \n", + " #Abnormality of middle 4th toe bone\n", + " definition of HP:0010381 (Abnormality of the middle phalanx of the 4th toe)\n", + " \n", + " \n", + " Aphasic status epilepticus\n", + " definition of HP:0032849 (Aphasic status epilepticus)\n", + " \n", + " \n", + " Aphasic status epilepticus is a type of focal non-convulsive status epilepticus without coma characterized by a cognitive (rather than motor) language deficit.\n", + " definition of HP:0032849 (Aphasic status epilepticus)\n", + " \n", + " \n", + " Abnormal cerebral vascular morphology\n", + " definition of HP:0100659 (Abnormal cerebral vascular morphology)\n", + " \n", + " \n", + " An anomaly of the cerebral blood vessels.\n", + " definition of HP:0100659 (Abnormal cerebral vascular morphology)\n", + " \n", + " \n", + " #Abnormality of the cerebral blood vessels #Abnormality of the cerebral vasculature\n", + " definition of HP:0100659 (Abnormal cerebral vascular morphology)\n", + " \n", + " \n", + " Reduced erythrocyte bisphosphoglycerate mutase activity\n", + " definition of HP:6000557 (Reduced erythrocyte bisphosphoglycerate mutase activity)\n", + " \n", + " \n", + " Activity or concentration of bisphosphoglycerate mutase (BPGM; EC 5.4.2.4;) in red blood cells below the lower limit of normal. BPGM is a multifunctional enzyme specifically found in red blood cells that synthesizes 2,3-diphosphoglycerate through its synthase activity and degrades it through its phosphatase activity.\n", + " definition of HP:6000557 (Reduced erythrocyte bisphosphoglycerate mutase activity)\n", + " \n", + " \n", + " Alien limb phenomenon\n", + " definition of HP:0032506 (Alien limb phenomenon)\n", + " \n", + " \n", + " Alien limb phenomenon refers to involuntary motor activity of a limb in conjunction with the feeling of estrangement from that limb.\n", + " definition of HP:0032506 (Alien limb phenomenon)\n", + " \n", + " \n", + " Wide sacroiliac joint\n", + " definition of HP:6000875 (Wide sacroiliac joint)\n", + " \n", + " \n", + " Distance between the sacrum and the ilium bones of the pelvis at the sacroiliac joint is above the upper limit of normal.\n", + " definition of HP:6000875 (Wide sacroiliac joint)\n", + " \n", + " \n", + " Bowel diverticulosis\n", + " definition of HP:0005222 (Bowel diverticulosis)\n", + " \n", + " \n", + " The presence of multiple diverticula of the intestine.\n", + " definition of HP:0005222 (Bowel diverticulosis)\n", + " \n", + " \n", + " Abnormal circulating beta globulin level\n", + " definition of HP:0025465 (Abnormal circulating beta globulin level)\n", + " \n", + " \n", + " A deviation from the normal concentration of beta globulin. The beta globulins are a group of globular (globe-shaped) proteins in blood.\n", + " definition of HP:0025465 (Abnormal circulating beta globulin level)\n", + " \n", + " \n", + " Reduced granulocyte CD55 level\n", + " definition of HP:0031554 (Reduced granulocyte CD55 level)\n", + " \n", + " \n", + " Reduced level of CD55 on the granulocyte surface as assessed by flow cytometry.\n", + " definition of HP:0031554 (Reduced granulocyte CD55 level)\n", + " \n", + " \n", + " Synostosis involving bones of the toes\n", + " definition of HP:0100235 (Synostosis involving bones of the toes)\n", + " \n", + " \n", + " #Fusion involving bones of the toes\n", + " definition of HP:0100235 (Synostosis involving bones of the toes)\n", + " \n", + " \n", + " Steatorrhea\n", + " definition of HP:0002570 (Steatorrhea)\n", + " \n", + " \n", + " Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats.\n", + " definition of HP:0002570 (Steatorrhea)\n", + " \n", + " \n", + " #Fat in faeces #Fat in feces #Fatty stool #Greasy stools\n", + " definition of HP:0002570 (Steatorrhea)\n", + " \n", + " \n", + " Abnormality of the musculature of the upper arm\n", + " definition of HP:0001457 (Abnormality of the musculature of the upper arm)\n", + " \n", + " \n", + " Cyanosis\n", + " definition of HP:0000961 (Cyanosis)\n", + " \n", + " \n", + " Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.\n", + " definition of HP:0000961 (Cyanosis)\n", + " \n", + " \n", + " #Blue discoloration of the skin\n", + " definition of HP:0000961 (Cyanosis)\n", + " \n", + " \n", + " Triangular epiphyses of the hallux\n", + " definition of HP:0010123 (Triangular epiphyses of the hallux)\n", + " \n", + " \n", + " #Triangular end part of the big toe bone\n", + " definition of HP:0010123 (Triangular epiphyses of the hallux)\n", + " \n", + " \n", + " Brain abscess\n", + " definition of HP:0030049 (Brain abscess)\n", + " \n", + " \n", + " A collection of pus, immune cells, and other material in the brain.\n", + " definition of HP:0030049 (Brain abscess)\n", + " \n", + " \n", + " #Brain abscess\n", + " definition of HP:0030049 (Brain abscess)\n", + " \n", + " \n", + " Reduced tissue beta-glucuronidase activity\n", + " definition of HP:0034859 (Reduced tissue beta-glucuronidase activity)\n", + " \n", + " \n", + " Concentration or activity of beta-glucuronidase (EC 3.2.1.31) below the lower limit of normal. FECH enzyme can be measured in multiple tissues including cultured fibroblasts and leukocytes.\n", + " definition of HP:0034859 (Reduced tissue beta-glucuronidase activity)\n", + " \n", + " \n", + " #Beta-glucuronidase low in leukocytes\n", + " definition of HP:0034859 (Reduced tissue beta-glucuronidase activity)\n", + " \n", + " \n", + " Nonprogressive visual loss\n", + " definition of HP:0200068 (Nonprogressive visual loss)\n", + " \n", + " \n", + " Osteosclerosis of ribs\n", + " definition of HP:0006634 (Osteosclerosis of ribs)\n", + " \n", + " \n", + " Osteosclerosis of ribs (increased density related to increased bone mass).\n", + " definition of HP:0006634 (Osteosclerosis of ribs)\n", + " \n", + " \n", + " #Increased bone density in ribs\n", + " definition of HP:0006634 (Osteosclerosis of ribs)\n", + " \n", + " \n", + " Sclerosis of 2nd finger phalanx\n", + " definition of HP:0100918 (Sclerosis of 2nd finger phalanx)\n", + " \n", + " \n", + " An elevation in bone density in one or more phalanges of the second finger. Sclerosis is normally detected on a radiograph as an area of increased opacity.\n", + " definition of HP:0100918 (Sclerosis of 2nd finger phalanx)\n", + " \n", + " \n", + " #Increased bone density in 2nd finger bone #Sclerosis of the phalanges of the 2nd finger\n", + " definition of HP:0100918 (Sclerosis of 2nd finger phalanx)\n", + " \n", + " \n", + " Squawks\n", + " definition of HP:0031995 (Squawks)\n", + " \n", + " \n", + " Squawks are short inspiratory wheezes of less than 200 ms duration and are also known as squeaks. Acoustic analysis shows the fundamental frequency varying between 200 and 300 Hz. Squawks usually occur in late inspiration and are often preceded by late inspiratory crackles.\n", + " definition of HP:0031995 (Squawks)\n", + " \n", + " \n", + " Triangular shaped middle phalanges of the toes\n", + " definition of HP:0010201 (Triangular shaped middle phalanges of the toes)\n", + " \n", + " \n", + " #Triangular shaped middle bones of toes\n", + " definition of HP:0010201 (Triangular shaped middle phalanges of the toes)\n", + " \n", + " \n", + " Excessive nocturnal light exposure\n", + " definition of HP:6000308 (Excessive nocturnal light exposure)\n", + " \n", + " \n", + " Exposure to continuous light at night, including night-shift work or a nocturnal lifestyle.\n", + " definition of HP:6000308 (Excessive nocturnal light exposure)\n", + " \n", + " \n", + " Maldevelopment of radioulnar joint\n", + " definition of HP:0005829 (Maldevelopment of radioulnar joint)\n", + " \n", + " \n", + " Splenic infarction\n", + " definition of HP:0034336 (Splenic infarction)\n", + " \n", + " \n", + " Ischemia and necrosis of part or all of the spleen resulting from compromise of blood supply resulting from arterial or venous occlusion.\n", + " definition of HP:0034336 (Splenic infarction)\n", + " \n", + " \n", + " #Spleen infarct #Spleen infarction #Splenic infarct\n", + " definition of HP:0034336 (Splenic infarction)\n", + " \n", + " \n", + " Sensory seeking\n", + " definition of HP:4000079 (Sensory seeking)\n", + " \n", + " \n", + " Unusual interest in sensory aspects of the environment.\n", + " definition of HP:4000079 (Sensory seeking)\n", + " \n", + " \n", + " Increased level of N-acetylneuraminic acid in fibroblasts\n", + " definition of HP:0410157 (Increased level of N-acetylneuraminic acid in fibroblasts)\n", + " \n", + " \n", + " An increase in the level of N-acetylneuraminic acid in cultured fibroblasts.\n", + " definition of HP:0410157 (Increased level of N-acetylneuraminic acid in fibroblasts)\n", + " \n", + " \n", + " #Increased level of NANA in fibroblasts #Increased level of Neu5Ac in fibroblasts #Increased level of sialic acid in fibroblasts\n", + " definition of HP:0410157 (Increased level of N-acetylneuraminic acid in fibroblasts)\n", + " \n", + " \n", + " Mixed demyelinating and axonal polyneuropathy\n", + " definition of HP:0007327 (Mixed demyelinating and axonal polyneuropathy)\n", + " \n", + " \n", + " Enterocolitis\n", + " definition of HP:0004387 (Enterocolitis)\n", + " \n", + " \n", + " An inflammation of the colon and small intestine. However, most conditions are either categorized as Enteritis (inflammation of the small intestine) or Colitis (inflammation of the large intestine).\n", + " definition of HP:0004387 (Enterocolitis)\n", + " \n", + " \n", + " Brown anomaly\n", + " definition of HP:0031622 (Brown anomaly)\n", + " \n", + " \n", + " An ocular motility defect where the affected eye(s) does not elevate in adduction but has full depression in adduction. It can be congenital or acquired from injury to or defect of the superior oblique tendon or trochlea and has a positive forced duction test result.\n", + " definition of HP:0031622 (Brown anomaly)\n", + " \n", + " \n", + " #Brown syndrome\n", + " definition of HP:0031622 (Brown anomaly)\n", + " \n", + " \n", + " Increased serum prostaglandin E2\n", + " definition of HP:0003566 (Increased serum prostaglandin E2)\n", + " \n", + " \n", + " An increased concentration of prostaglandin E2 in the blood.\n", + " definition of HP:0003566 (Increased serum prostaglandin E2)\n", + " \n", + " \n", + " #Elevated prostaglandin E2\n", + " definition of HP:0003566 (Increased serum prostaglandin E2)\n", + " \n", + " \n", + " Elevated urinary gamma-glutamylphenylalanine level\n", + " definition of HP:6000281 (Elevated urinary gamma-glutamylphenylalanine level)\n", + " \n", + " \n", + " The amount of gamma-glutamylphenylalanine in the urine, when normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000281 (Elevated urinary gamma-glutamylphenylalanine level)\n", + " \n", + " \n", + " Delayed ossification of the trapezoid bone\n", + " definition of HP:0004257 (Delayed ossification of the trapezoid bone)\n", + " \n", + " \n", + " Formation of bone tissue of trapezoid is less than expected for age.\n", + " definition of HP:0004257 (Delayed ossification of the trapezoid bone)\n", + " \n", + " \n", + " #Delayed maturation of the trapezoid bone\n", + " definition of HP:0004257 (Delayed ossification of the trapezoid bone)\n", + " \n", + " \n", + " Patchy sclerosis of the middle phalanx of the 2nd finger\n", + " definition of HP:0009573 (Patchy sclerosis of the middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " Uneven (irregular) increase in bone density of the middle phalanx of the second finger.\n", + " definition of HP:0009573 (Patchy sclerosis of the middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Uneven increase in bone density in the middle bone of the index finger\n", + " definition of HP:0009573 (Patchy sclerosis of the middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " Brachycephaly\n", + " definition of HP:0000248 (Brachycephaly)\n", + " \n", + " \n", + " An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.\n", + " definition of HP:0000248 (Brachycephaly)\n", + " \n", + " \n", + " #Short and broad skull\n", + " definition of HP:0000248 (Brachycephaly)\n", + " \n", + " \n", + " Nail pits\n", + " definition of HP:0001803 (Nail pits)\n", + " \n", + " \n", + " Small (typically about 1 mm or less in size) depressions on the dorsal nail surface.\n", + " definition of HP:0001803 (Nail pits)\n", + " \n", + " \n", + " #Nail pits #Nail pitting #Pitted nails\n", + " definition of HP:0001803 (Nail pits)\n", + " \n", + " \n", + " Incomplete unilateral cleft lip\n", + " definition of HP:5201000 (Incomplete unilateral cleft lip)\n", + " \n", + " \n", + " Unilateral cleft lip cleft that starts from the bottom of the upper lip but does not reach the nasal cavity.\n", + " definition of HP:5201000 (Incomplete unilateral cleft lip)\n", + " \n", + " \n", + " Rhizomelic arm shortening\n", + " definition of HP:0004991 (Rhizomelic arm shortening)\n", + " \n", + " \n", + " Disproportionate shortening of the proximal segment of the arm (i.e. the humerus).\n", + " definition of HP:0004991 (Rhizomelic arm shortening)\n", + " \n", + " \n", + " Decreased DLCO\n", + " definition of HP:0045051 (Decreased DLCO)\n", + " \n", + " \n", + " Reduced ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test.\n", + " definition of HP:0045051 (Decreased DLCO)\n", + " \n", + " \n", + " #Decreased diffusing capacity\n", + " definition of HP:0045051 (Decreased DLCO)\n", + " \n", + " \n", + " Decreased level of heparin co-factor II\n", + " definition of HP:0040226 (Decreased level of heparin co-factor II)\n", + " \n", + " \n", + " An abnormality of coagulation related to a decreased concentration of heparin co-factor II\n", + " definition of HP:0040226 (Decreased level of heparin co-factor II)\n", + " \n", + " \n", + " #Heparin co-factor II deficiency\n", + " definition of HP:0040226 (Decreased level of heparin co-factor II)\n", + " \n", + " \n", + " Hypochondriac delusion\n", + " definition of HP:5200425 (Hypochondriac delusion)\n", + " \n", + " \n", + " Delusion quality to belief that one is suffering from an illness despite reassurances based on medical examination and testing. The person may (or not) express pain or discomfort that they attribute to the disease. They are frequently treatment seeking, but do not induce illness features (which is termed Munchhausen syndrome).\n", + " definition of HP:5200425 (Hypochondriac delusion)\n", + " \n", + " \n", + " Decreased osteoclast count\n", + " definition of HP:0030328 (Decreased osteoclast count)\n", + " \n", + " \n", + " Decreased number of osteoclasts in bone tissue.\n", + " definition of HP:0030328 (Decreased osteoclast count)\n", + " \n", + " \n", + " Interlobular vein intima/media liquefactive necrosis\n", + " definition of HP:0033970 (Interlobular vein intima/media liquefactive necrosis)\n", + " \n", + " \n", + " A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized.\n", + " definition of HP:0033970 (Interlobular vein intima/media liquefactive necrosis)\n", + " \n", + " \n", + " #Liquefactive necrosis within interlobular vein intima/media\n", + " definition of HP:0033970 (Interlobular vein intima/media liquefactive necrosis)\n", + " \n", + " \n", + " Severe toxoplasmosis\n", + " definition of HP:0020105 (Severe toxoplasmosis)\n", + " \n", + " \n", + " Toxoplasmosis is a widespread parasitic infection that is frequently asymptomatic in immunocompetent patients. However, this obligate intracellular protozoan parasite can evade the immune system and persist for the life of its host in cyst form, predominantly in the brain, retina, and muscles. Reactivation of latent cysts may occur when the immune system fails to maintain cytokine pressure, which mainly relies on gamma interferon (IFN-gamma). Toxoplasmosis is a life-threatening infection in immunocompromised patients (ICPs).\n", + " definition of HP:0020105 (Severe toxoplasmosis)\n", + " \n", + " \n", + " Reduced hepatic N-acetylglutamate synthase activity\n", + " definition of HP:6000161 (Reduced hepatic N-acetylglutamate synthase activity)\n", + " \n", + " \n", + " Concentration or activity of N-acetylglutamate synthase in liver tissue below the lower limit of normal.\n", + " definition of HP:6000161 (Reduced hepatic N-acetylglutamate synthase activity)\n", + " \n", + " \n", + " Duplication of the distal phalanx of the 5th toe\n", + " definition of HP:0100400 (Duplication of the distal phalanx of the 5th toe)\n", + " \n", + " \n", + " Partial or complete duplication of the distal phalanx of little toe.\n", + " definition of HP:0100400 (Duplication of the distal phalanx of the 5th toe)\n", + " \n", + " \n", + " #Duplication of the distal phalanx of the fifth toe #Duplication of the outermost bone of the fifth toe #Duplication of the outermost bone of the little toe #Duplication of the outermost bone of the pinkie toe #Duplication of the outermost bone of the pinky toe #Partial/complete duplication of the distal phalanx of the 5th toe\n", + " definition of HP:0100400 (Duplication of the distal phalanx of the 5th toe)\n", + " \n", + " \n", + " CD23 expression\n", + " definition of HP:0430096 (CD23 expression)\n", + " \n", + " \n", + " Detection of the presence of CD23 on the cell(s) of interest with the use of anti-CD23 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry).\n", + " definition of HP:0430096 (CD23 expression)\n", + " \n", + " \n", + " Flexion contracture of the 2nd finger\n", + " definition of HP:0009537 (Flexion contracture of the 2nd finger)\n", + " \n", + " \n", + " Chronic loss of joint motion in the 2nd finger due to structural changes in non-bony tissue. The term camptodactyly of the 2nd finger is used if the distal and/or proximal interphalangeal joints are affected.\n", + " definition of HP:0009537 (Flexion contracture of the 2nd finger)\n", + " \n", + " \n", + " #Joint contractures of the 2nd finger\n", + " definition of HP:0009537 (Flexion contracture of the 2nd finger)\n", + " \n", + " \n", + " Glenoid fossa hypoplasia\n", + " definition of HP:0006633 (Glenoid fossa hypoplasia)\n", + " \n", + " \n", + " Underdevelopment of the glenoid fossa, which is the cavity in the lateral part of the scapula which articulates with the head of the humerus.\n", + " definition of HP:0006633 (Glenoid fossa hypoplasia)\n", + " \n", + " \n", + " #Glenoid hypoplasia #Hypoplastic glenoid fossa\n", + " definition of HP:0006633 (Glenoid fossa hypoplasia)\n", + " \n", + " \n", + " Aplasia of the proximal phalanx of the 2nd finger\n", + " definition of HP:0009596 (Aplasia of the proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Absence of the proximal phalanx of the 2nd finger.\n", + " definition of HP:0009596 (Aplasia of the proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Absent innermost bone of index finger\n", + " definition of HP:0009596 (Aplasia of the proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Periarticular calcification\n", + " definition of HP:0025477 (Periarticular calcification)\n", + " \n", + " \n", + " Calcified deposits in soft tissue structures outside a joint.\n", + " definition of HP:0025477 (Periarticular calcification)\n", + " \n", + " \n", + " Low cholesterol esterification rate\n", + " definition of HP:0003349 (Low cholesterol esterification rate)\n", + " \n", + " \n", + " A reduction in the rate of cholesterol esterification.\n", + " definition of HP:0003349 (Low cholesterol esterification rate)\n", + " \n", + " \n", + " Confluent hypointensity of cerebral white matter on MRI\n", + " definition of HP:0040333 (Confluent hypointensity of cerebral white matter on MRI)\n", + " \n", + " \n", + " EEG with generalized epileptiform discharges\n", + " definition of HP:0011198 (EEG with generalized epileptiform discharges)\n", + " \n", + " \n", + " EEG discharges recorded on the entire scalp typically seen in persons with epilepsy.\n", + " definition of HP:0011198 (EEG with generalized epileptiform discharges)\n", + " \n", + " \n", + " #EEG with generalised epileptiform discharges\n", + " definition of HP:0011198 (EEG with generalized epileptiform discharges)\n", + " \n", + " \n", + " Organized thrombi within interlobular vein lumen\n", + " definition of HP:0033858 (Organized thrombi within interlobular vein lumen)\n", + " \n", + " \n", + " Thrombi containing fibrous tissue and capillary-like vascular channels located within the lumen of the interlobular veins of the kidney.\n", + " definition of HP:0033858 (Organized thrombi within interlobular vein lumen)\n", + " \n", + " \n", + " Thoracoabdominal eventration\n", + " definition of HP:0100657 (Thoracoabdominal eventration)\n", + " \n", + " \n", + " Congenital protrusion of the abdominal or thoracic viscera, usually with a defect of the sternum and ribs as well as of the abdominal walls.\n", + " definition of HP:0100657 (Thoracoabdominal eventration)\n", + " \n", + " \n", + " #Celosomia #Kelosomia\n", + " definition of HP:0100657 (Thoracoabdominal eventration)\n", + " \n", + " \n", + " Lumbar platyspondyly\n", + " definition of HP:0005787 (Lumbar platyspondyly)\n", + " \n", + " \n", + " A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the lumbar spine.\n", + " definition of HP:0005787 (Lumbar platyspondyly)\n", + " \n", + " \n", + " Darier's sign\n", + " definition of HP:0025081 (Darier's sign)\n", + " \n", + " \n", + " A skin change elicited by briskly rubbing the skin lesion in urticaria pigmentosa (UP), whereby the area begins to itch and becomes raised and surrounded by erythema. Unlike other forms of dermatographism, Darier's sign refers to urtication that is limited to the UP involved areas and, as in this case, spares the skin unaffected by UP.\n", + " definition of HP:0025081 (Darier's sign)\n", + " \n", + " \n", + " Prominent median palatal raphe\n", + " definition of HP:0002708 (Prominent median palatal raphe)\n", + " \n", + " \n", + " Unusual prominence of the median palatal raphe, which is the ridge formed by the fusion of the two plates of the skull that form the hard palate.\n", + " definition of HP:0002708 (Prominent median palatal raphe)\n", + " \n", + " \n", + " #Prominent central palatal ridge #Prominent central ridge on roof of the mouth #Prominent medial palatal suture\n", + " definition of HP:0002708 (Prominent median palatal raphe)\n", + " \n", + " \n", + " Telangiectases producing 'marbled' skin\n", + " definition of HP:0007586 (Telangiectases producing 'marbled' skin)\n", + " \n", + " \n", + " Illusions due to affect\n", + " definition of HP:5200208 (Illusions due to affect)\n", + " \n", + " \n", + " Perceptual distortions or misinterpretations of sensory information arise as a result of the individual's emotional or affective state.\n", + " definition of HP:5200208 (Illusions due to affect)\n", + " \n", + " \n", + " Neoplasm of the colon\n", + " definition of HP:0100273 (Neoplasm of the colon)\n", + " \n", + " \n", + " #Colon tumor #Colon tumour\n", + " definition of HP:0100273 (Neoplasm of the colon)\n", + " \n", + " \n", + " Elevated circulating CXCL9 concentration\n", + " definition of HP:6000704 (Elevated circulating CXCL9 concentration)\n", + " \n", + " \n", + " The concentration of chemokine (C-X-C motif) ligand 9 in the blood circulation is above the upper limit of normal.\n", + " definition of HP:6000704 (Elevated circulating CXCL9 concentration)\n", + " \n", + " \n", + " #Elevated circulating monokine induced by gamma-interferon concentration\n", + " definition of HP:6000704 (Elevated circulating CXCL9 concentration)\n", + " \n", + " \n", + " Pulmonary arterial atherosclerosis\n", + " definition of HP:0031272 (Pulmonary arterial atherosclerosis)\n", + " \n", + " \n", + " Accumulation of lipids and inflammatory cells along the inner walls of the pulmonary artery.\n", + " definition of HP:0031272 (Pulmonary arterial atherosclerosis)\n", + " \n", + " \n", + " Abnormality of bone marrow stromal cells\n", + " definition of HP:0012129 (Abnormality of bone marrow stromal cells)\n", + " \n", + " \n", + " Agenesis of lateral incisor\n", + " definition of HP:0200153 (Agenesis of lateral incisor)\n", + " \n", + " \n", + " #Failure of development of lateral incisor\n", + " definition of HP:0200153 (Agenesis of lateral incisor)\n", + " \n", + " \n", + " Increased scrotal rugation\n", + " definition of HP:0012857 (Increased scrotal rugation)\n", + " \n", + " \n", + " Increased number or density of the folded ridges (wrinkles) of skin of the scrotum.\n", + " definition of HP:0012857 (Increased scrotal rugation)\n", + " \n", + " \n", + " Renal arteriole endoarterial hypercellularity\n", + " definition of HP:0033921 (Renal arteriole endoarterial hypercellularity)\n", + " \n", + " \n", + " Abnormal and excessive number of cells (hypercellularity) in the lining (endothelium) of the arterioles of the kidney.\n", + " definition of HP:0033921 (Renal arteriole endoarterial hypercellularity)\n", + " \n", + " \n", + " #Endoarterial hypercellularity within arterioles\n", + " definition of HP:0033921 (Renal arteriole endoarterial hypercellularity)\n", + " \n", + " \n", + " Mastoiditis\n", + " definition of HP:0000265 (Mastoiditis)\n", + " \n", + " \n", + " Macular microaneurysm/hemorrhage\n", + " definition of HP:0030494 (Macular microaneurysm/hemorrhage)\n", + " \n", + " \n", + " Small, red dots in the superficial retinal layers (it is difficult to distinguish between small hemorrhages and microaneurysms).\n", + " definition of HP:0030494 (Macular microaneurysm/hemorrhage)\n", + " \n", + " \n", + " Cloacal exstrophy\n", + " definition of HP:0010475 (Cloacal exstrophy)\n", + " \n", + " \n", + " Cloacal exstrophy is a severe anterior abdominal wall defect in which the two hemibladders are visible and are separated by a midline intestinal plate, an omphalocele, and an imperforate anus.\n", + " definition of HP:0010475 (Cloacal exstrophy)\n", + " \n", + " \n", + " Ectopia of the spleen\n", + " definition of HP:0010452 (Ectopia of the spleen)\n", + " \n", + " \n", + " An abnormal (non-anatomic) location of the spleen.\n", + " definition of HP:0010452 (Ectopia of the spleen)\n", + " \n", + " \n", + " #Abnormal spleen location #Ectopic spleen\n", + " definition of HP:0010452 (Ectopia of the spleen)\n", + " \n", + " \n", + " Decreased CSF valine concentration\n", + " definition of HP:0500188 (Decreased CSF valine concentration)\n", + " \n", + " \n", + " Any decreased amount from normal of valine in the cerebrospinal fluid.\n", + " definition of HP:0500188 (Decreased CSF valine concentration)\n", + " \n", + " \n", + " #Low valine levels in cerebrospinal fluid\n", + " definition of HP:0500188 (Decreased CSF valine concentration)\n", + " \n", + " \n", + " Fibular bowing\n", + " definition of HP:0010502 (Fibular bowing)\n", + " \n", + " \n", + " A bending or abnormal curvature of the fibula.\n", + " definition of HP:0010502 (Fibular bowing)\n", + " \n", + " \n", + " #Bowed calf bone\n", + " definition of HP:0010502 (Fibular bowing)\n", + " \n", + " \n", + " Thick growth plates\n", + " definition of HP:0025369 (Thick growth plates)\n", + " \n", + " \n", + " Increased thickness (dimension along the axis of the bone) of the growth plate.\n", + " definition of HP:0025369 (Thick growth plates)\n", + " \n", + " \n", + " Microspherocytosis\n", + " definition of HP:0004835 (Microspherocytosis)\n", + " \n", + " \n", + " The presence of erythrocytes that are sphere-shaped and reduced in size.\n", + " definition of HP:0004835 (Microspherocytosis)\n", + " \n", + " \n", + " Mild hearing impairment\n", + " definition of HP:0012712 (Mild hearing impairment)\n", + " \n", + " \n", + " The presence of a mild form of hearing impairment.\n", + " definition of HP:0012712 (Mild hearing impairment)\n", + " \n", + " \n", + " #Mild hearing impairment\n", + " definition of HP:0012712 (Mild hearing impairment)\n", + " \n", + " \n", + " Decreased corneal thickness\n", + " definition of HP:0100689 (Decreased corneal thickness)\n", + " \n", + " \n", + " A decreased anteroposterior thickness of the cornea.\n", + " definition of HP:0100689 (Decreased corneal thickness)\n", + " \n", + " \n", + " #Thin cornea\n", + " definition of HP:0100689 (Decreased corneal thickness)\n", + " \n", + " \n", + " Osteolytic defects of the phalanges of the 5th finger\n", + " definition of HP:0004216 (Osteolytic defects of the phalanges of the 5th finger)\n", + " \n", + " \n", + " Dissolution or degeneration of bone tissue of the phalanges of the 5th finger.\n", + " definition of HP:0004216 (Osteolytic defects of the phalanges of the 5th finger)\n", + " \n", + " \n", + " #Lytic defects of the phalanges of the little finger\n", + " definition of HP:0004216 (Osteolytic defects of the phalanges of the 5th finger)\n", + " \n", + " \n", + " Meconium pseudocyst\n", + " definition of HP:0025674 (Meconium pseudocyst)\n", + " \n", + " \n", + " A meconium-containing cyst in the peritoneal space . Meconium pseudocysts form in the presence of meconium peritonitis, which is defined as a sterile peritonitis caused by escape of meconium from the intestinal tract into the general peritoneal cavity during the fetal or perinatal period. When the extruded meconium becomes walled off, it can form a rim-calcified mass representing the meconium pseudocyst.\n", + " definition of HP:0025674 (Meconium pseudocyst)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the phalanges of the hand\n", + " definition of HP:0009767 (Aplasia/Hypoplasia of the phalanges of the hand)\n", + " \n", + " \n", + " Small or missing phalangeal bones of the fingers of the hand.\n", + " definition of HP:0009767 (Aplasia/Hypoplasia of the phalanges of the hand)\n", + " \n", + " \n", + " #Aplastic/hypoplastic phalanges #Aplastic/hypoplastic phalanges of the hand #Hypoplastic/absent phalanges\n", + " definition of HP:0009767 (Aplasia/Hypoplasia of the phalanges of the hand)\n", + " \n", + " \n", + " Cutaneous nodular amyloidosis\n", + " definition of HP:0032348 (Cutaneous nodular amyloidosis)\n", + " \n", + " \n", + " A type of cutaneous amyloidosis that is characterized clinically by waxy, purpuric plaques and nodules and histologically by amyloid deposits in the dermis and subcutaneous tissue.\n", + " definition of HP:0032348 (Cutaneous nodular amyloidosis)\n", + " \n", + " \n", + " McConnell sign\n", + " definition of HP:0034331 (McConnell sign)\n", + " \n", + " \n", + " Severe hypokinesia of the mid-free wall of the right ventricle of the heart with a normal contraction of the apical segment of the right ventricle.\n", + " definition of HP:0034331 (McConnell sign)\n", + " \n", + " \n", + " Open neural tube defect\n", + " definition of HP:0034237 (Open neural tube defect)\n", + " \n", + " \n", + " A type of neural tube defect that is not covered by skin.\n", + " definition of HP:0034237 (Open neural tube defect)\n", + " \n", + " \n", + " Abnormality of canine\n", + " definition of HP:0011078 (Abnormality of canine)\n", + " \n", + " \n", + " An abnormality of canine tooth.\n", + " definition of HP:0011078 (Abnormality of canine)\n", + " \n", + " \n", + " #Abnormality of canine #Abnormality of eye tooth\n", + " definition of HP:0011078 (Abnormality of canine)\n", + " \n", + " \n", + " Eosinophilic gallbladder infiltration\n", + " definition of HP:0032023 (Eosinophilic gallbladder infiltration)\n", + " \n", + " \n", + " Cellular infiltrate confirmed by a cellular infiltrate comprised of mainly eosinophils in the gallbladder wall on histological examination.\n", + " definition of HP:0032023 (Eosinophilic gallbladder infiltration)\n", + " \n", + " \n", + " #Eosinophilic cholecystitis\n", + " definition of HP:0032023 (Eosinophilic gallbladder infiltration)\n", + " \n", + " \n", + " Maternal teratogenic exposure\n", + " definition of HP:0011438 (Maternal teratogenic exposure)\n", + " \n", + " \n", + " A medical history of exposure of the mother of a child or fetus to a teratogenic substance during pregnancy.\n", + " definition of HP:0011438 (Maternal teratogenic exposure)\n", + " \n", + " \n", + " Neoplasm of the pharynx\n", + " definition of HP:0100638 (Neoplasm of the pharynx)\n", + " \n", + " \n", + " A neoplasm originating in the pharynx.\n", + " definition of HP:0100638 (Neoplasm of the pharynx)\n", + " \n", + " \n", + " #Neoplasia of the pharynx #Pharyngeal neoplasm\n", + " definition of HP:0100638 (Neoplasm of the pharynx)\n", + " \n", + " \n", + " Parathyroid dysgenesis\n", + " definition of HP:0011768 (Parathyroid dysgenesis)\n", + " \n", + " \n", + " Abnormal embryonic development of the parathyroid gland.\n", + " definition of HP:0011768 (Parathyroid dysgenesis)\n", + " \n", + " \n", + " Abnormal retinal morphology\n", + " definition of HP:0000479 (Abnormal retinal morphology)\n", + " \n", + " \n", + " A structural abnormality of the retina.\n", + " definition of HP:0000479 (Abnormal retinal morphology)\n", + " \n", + " \n", + " #Abnormal retina #Abnormality of the retina #Anomaly of the retina #Retina issue\n", + " definition of HP:0000479 (Abnormal retinal morphology)\n", + " \n", + " \n", + " Neoplasia of the nasopharynx\n", + " definition of HP:0100630 (Neoplasia of the nasopharynx)\n", + " \n", + " \n", + " #Nasopharyngeal neoplasm #Neoplasm of the nasopharynx\n", + " definition of HP:0100630 (Neoplasia of the nasopharynx)\n", + " \n", + " \n", + " Absent inner and outer dynein arms\n", + " definition of HP:0012259 (Absent inner and outer dynein arms)\n", + " \n", + " \n", + " Complete absence of the dynein arms of respiratory motile cilia, that is, absence of the inner and the outer dynein arms, which normally are situated inside and outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.\n", + " definition of HP:0012259 (Absent inner and outer dynein arms)\n", + " \n", + " \n", + " Hyperargininemia\n", + " definition of HP:0500153 (Hyperargininemia)\n", + " \n", + " \n", + " An increased amount of arginine levels in the blood.\n", + " definition of HP:0500153 (Hyperargininemia)\n", + " \n", + " \n", + " #High blood arginine levels #Increased blood arginine concentration\n", + " definition of HP:0500153 (Hyperargininemia)\n", + " \n", + " \n", + " Patchy sclerosis of radial diaphysis\n", + " definition of HP:0004030 (Patchy sclerosis of radial diaphysis)\n", + " \n", + " \n", + " Osteolytic defects of the phalanges of the 4th toe\n", + " definition of HP:0010375 (Osteolytic defects of the phalanges of the 4th toe)\n", + " \n", + " \n", + " Disturbed sensory perception\n", + " definition of HP:0010524 (Disturbed sensory perception)\n", + " \n", + " \n", + " Alteration or impairment in the processing or interpretation of sensory information can lead to abnormal perceptions or experiences.\n", + " definition of HP:0010524 (Disturbed sensory perception)\n", + " \n", + " \n", + " #Agnosia\n", + " definition of HP:0010524 (Disturbed sensory perception)\n", + " \n", + " \n", + " Cone-shaped epiphyses of the middle phalanges of the hand\n", + " definition of HP:0010259 (Cone-shaped epiphyses of the middle phalanges of the hand)\n", + " \n", + " \n", + " #Cone-shaped end part of the middle hand bones #Cone-shaped epiphyses of middle phalanges\n", + " definition of HP:0010259 (Cone-shaped epiphyses of the middle phalanges of the hand)\n", + " \n", + " \n", + " Non-spinning vertigo\n", + " definition of HP:4000033 (Non-spinning vertigo)\n", + " \n", + " \n", + " A perception of unsteadiness of dizziness that is not characterized bythe spinning sensation of classic vertigo, but rather by an oscillatory perception (rocking, bobbing, or swaying despite the fact that the subject is not moving).\n", + " definition of HP:4000033 (Non-spinning vertigo)\n", + " \n", + " \n", + " Elevated serum 11-deoxycortisol\n", + " definition of HP:0025436 (Elevated serum 11-deoxycortisol)\n", + " \n", + " \n", + " Increased concentration of 11-deoxycortisol in the circulation. 11-deoxycorticosterone, which is also known as simply deoxycorticosterone and 21-hydroxyprogesterone, is a steroid hormore that is produces in the adrenals and is a precursor to aldosterone.\n", + " definition of HP:0025436 (Elevated serum 11-deoxycortisol)\n", + " \n", + " \n", + " #Elevated serum 21-hydroxyprogesterone #Elevated serum deoxycorticosterone\n", + " definition of HP:0025436 (Elevated serum 11-deoxycortisol)\n", + " \n", + " \n", + " Increased HDL2b concentration\n", + " definition of HP:0032424 (Increased HDL2b concentration)\n", + " \n", + " \n", + " An elevation above the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm.\n", + " definition of HP:0032424 (Increased HDL2b concentration)\n", + " \n", + " \n", + " Flat posterior fossa\n", + " definition of HP:0040011 (Flat posterior fossa)\n", + " \n", + " \n", + " Abnormal labia morphology\n", + " definition of HP:0000058 (Abnormal labia morphology)\n", + " \n", + " \n", + " An anomaly of the labia, the externally visible portions of the vulva.\n", + " definition of HP:0000058 (Abnormal labia morphology)\n", + " \n", + " \n", + " #Abnormality of the labia\n", + " definition of HP:0000058 (Abnormal labia morphology)\n", + " \n", + " \n", + " Absent epiphyses of the toes\n", + " definition of HP:0010162 (Absent epiphyses of the toes)\n", + " \n", + " \n", + " Absence of the epiphyses of the phalanges of the toes.\n", + " definition of HP:0010162 (Absent epiphyses of the toes)\n", + " \n", + " \n", + " #Absent end part of the toe bones\n", + " definition of HP:0010162 (Absent epiphyses of the toes)\n", + " \n", + " \n", + " Young adult onset\n", + " definition of HP:0011462 (Young adult onset)\n", + " \n", + " \n", + " Onset of disease at the age of between 16 and 40 years.\n", + " definition of HP:0011462 (Young adult onset)\n", + " \n", + " \n", + " Cortical diaphyseal irregularity of the upper limbs\n", + " definition of HP:0003858 (Cortical diaphyseal irregularity of the upper limbs)\n", + " \n", + " \n", + " Ectopic gallstone\n", + " definition of HP:6000455 (Ectopic gallstone)\n", + " \n", + " \n", + " A gallstone located outside of the gallbladder.\n", + " definition of HP:6000455 (Ectopic gallstone)\n", + " \n", + " \n", + " #Gallstone outside of the gallbladder\n", + " definition of HP:6000455 (Ectopic gallstone)\n", + " \n", + " \n", + " Microtia, third degree\n", + " definition of HP:0011267 (Microtia, third degree)\n", + " \n", + " \n", + " Presence of some auricular structures, but none of these structures conform to recognized ear components.\n", + " definition of HP:0011267 (Microtia, third degree)\n", + " \n", + " \n", + " #Third-degree microtia\n", + " definition of HP:0011267 (Microtia, third degree)\n", + " \n", + " \n", + " Elevated urine pyrophosphate\n", + " definition of HP:0003491 (Elevated urine pyrophosphate)\n", + " \n", + " \n", + " An abnormally increased diphosphate(4-) concentration in the urine. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate.\n", + " definition of HP:0003491 (Elevated urine pyrophosphate)\n", + " \n", + " \n", + " Patulous urethra\n", + " definition of HP:0025417 (Patulous urethra)\n", + " \n", + " \n", + " Urethra more open or expanded than normal.\n", + " definition of HP:0025417 (Patulous urethra)\n", + " \n", + " \n", + " Duplication of hand bones\n", + " definition of HP:0004275 (Duplication of hand bones)\n", + " \n", + " \n", + " #Duplication of hand bones\n", + " definition of HP:0004275 (Duplication of hand bones)\n", + " \n", + " \n", + " Abnormal helper T cell proportion\n", + " definition of HP:0500263 (Abnormal helper T cell proportion)\n", + " \n", + " \n", + " Abnormal proportion of helper T cells relative to the total number of T cells.\n", + " definition of HP:0500263 (Abnormal helper T cell proportion)\n", + " \n", + " \n", + " #Abnormal proportion of circulating T-helper cells\n", + " definition of HP:0500263 (Abnormal helper T cell proportion)\n", + " \n", + " \n", + " Enteroviral hepatitis\n", + " definition of HP:0001412 (Enteroviral hepatitis)\n", + " \n", + " \n", + " Inflammation of the liver due to infection with enterovirus.\n", + " definition of HP:0001412 (Enteroviral hepatitis)\n", + " \n", + " \n", + " Focal impaired awareness motor seizure with paresis/paralysis\n", + " definition of HP:0032859 (Focal impaired awareness motor seizure with paresis/paralysis)\n", + " \n", + " \n", + " A focal motor seizure with paresis / paralysis characterized by impaired awareness at some point during the seizure.\n", + " definition of HP:0032859 (Focal impaired awareness motor seizure with paresis/paralysis)\n", + " \n", + " \n", + " #Focal motor impaired awareness seizure with paresis/paralysis\n", + " definition of HP:0032859 (Focal impaired awareness motor seizure with paresis/paralysis)\n", + " \n", + " \n", + " Reduced orotidine 5-prime phosphate decarboxylase level\n", + " definition of HP:0003267 (Reduced orotidine 5-prime phosphate decarboxylase level)\n", + " \n", + " \n", + " An abnormal decrease in orotidine 5'-phosphate decarboxylase level.\n", + " definition of HP:0003267 (Reduced orotidine 5-prime phosphate decarboxylase level)\n", + " \n", + " \n", + " Hypolysinemia\n", + " definition of HP:0500142 (Hypolysinemia)\n", + " \n", + " \n", + " A decreased amount of lysine in the blood.\n", + " definition of HP:0500142 (Hypolysinemia)\n", + " \n", + " \n", + " #Decreased blood lysine #Low blood lysine levels\n", + " definition of HP:0500142 (Hypolysinemia)\n", + " \n", + " \n", + " Cessation of head growth\n", + " definition of HP:0004485 (Cessation of head growth)\n", + " \n", + " \n", + " Stagnation of head growth seen as flattening of the head circumference curve.\n", + " definition of HP:0004485 (Cessation of head growth)\n", + " \n", + " \n", + " #Cranium stopped growing #Head stopped growing\n", + " definition of HP:0004485 (Cessation of head growth)\n", + " \n", + " \n", + " Cardiac rhabdomyoma\n", + " definition of HP:0009729 (Cardiac rhabdomyoma)\n", + " \n", + " \n", + " A benign tumor of cardiac striated muscle.\n", + " definition of HP:0009729 (Cardiac rhabdomyoma)\n", + " \n", + " \n", + " Vaginitis\n", + " definition of HP:0030683 (Vaginitis)\n", + " \n", + " \n", + " Inflammation of the vagina that can result from a spectrum of conditions that cause vaginal and sometimes vulvar symptoms, such as itching, burning, irritation, odor, and vaginal discharge.\n", + " definition of HP:0030683 (Vaginitis)\n", + " \n", + " \n", + " Ureteral obstruction\n", + " definition of HP:0006000 (Ureteral obstruction)\n", + " \n", + " \n", + " Obstruction of the flow of urine through the ureter.\n", + " definition of HP:0006000 (Ureteral obstruction)\n", + " \n", + " \n", + " Postural tremor\n", + " definition of HP:0002174 (Postural tremor)\n", + " \n", + " \n", + " A type of tremors that is triggered by holding a limb in a fixed position.\n", + " definition of HP:0002174 (Postural tremor)\n", + " \n", + " \n", + " Glomerular basement membrane lucencies\n", + " definition of HP:0033287 (Glomerular basement membrane lucencies)\n", + " \n", + " \n", + " Lucent zones within the glomerular basement membranes. May reflect remote/resolved deposits.\n", + " definition of HP:0033287 (Glomerular basement membrane lucencies)\n", + " \n", + " \n", + " Abnormal platelet function\n", + " definition of HP:0011869 (Abnormal platelet function)\n", + " \n", + " \n", + " Any anomaly in the function of thrombocytes.\n", + " definition of HP:0011869 (Abnormal platelet function)\n", + " \n", + " \n", + " Clinodactyly of the 2nd finger\n", + " definition of HP:0040022 (Clinodactyly of the 2nd finger)\n", + " \n", + " \n", + " #Second finger clinodactyly\n", + " definition of HP:0040022 (Clinodactyly of the 2nd finger)\n", + " \n", + " \n", + " Neonatal multifocal clonic seizure\n", + " definition of HP:0032820 (Neonatal multifocal clonic seizure)\n", + " \n", + " \n", + " Neonatal focal clonic seizure is a type of neonatal electro-clinical clonic seizure where the predominant motor feature is a regularly repeating jerking involving the same muscle groups, which occurs at multiple sites.\n", + " definition of HP:0032820 (Neonatal multifocal clonic seizure)\n", + " \n", + " \n", + " Alveolar rhabdomyosarcoma\n", + " definition of HP:0006779 (Alveolar rhabdomyosarcoma)\n", + " \n", + " \n", + " Abnormality of buccinator muscle\n", + " definition of HP:3000027 (Abnormality of buccinator muscle)\n", + " \n", + " \n", + " An abnormality of a buccinator muscle.\n", + " definition of HP:3000027 (Abnormality of buccinator muscle)\n", + " \n", + " \n", + " Pruritus on foot\n", + " definition of HP:0030900 (Pruritus on foot)\n", + " \n", + " \n", + " Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the foot.\n", + " definition of HP:0030900 (Pruritus on foot)\n", + " \n", + " \n", + " #Itchy feet #Itchy foot\n", + " definition of HP:0030900 (Pruritus on foot)\n", + " \n", + " \n", + " Hyperconvex vertebral body endplates\n", + " definition of HP:0004603 (Hyperconvex vertebral body endplates)\n", + " \n", + " \n", + " Cholestatic liver disease\n", + " definition of HP:0002611 (Cholestatic liver disease)\n", + " \n", + " \n", + " Duplication of the 1st metacarpal\n", + " definition of HP:0009609 (Duplication of the 1st metacarpal)\n", + " \n", + " \n", + " Partail or complete duplication of the first metacarpal bone.\n", + " definition of HP:0009609 (Duplication of the 1st metacarpal)\n", + " \n", + " \n", + " #Partial/complete duplication of the 1st long bone of hand #Partial/complete duplication of the 1st metacarpal\n", + " definition of HP:0009609 (Duplication of the 1st metacarpal)\n", + " \n", + " \n", + " Serous pericardial effusion\n", + " definition of HP:0011853 (Serous pericardial effusion)\n", + " \n", + " \n", + " Accumulation of serous fluid (pale yellow and transparent fluid) in the pericardial sac.\n", + " definition of HP:0011853 (Serous pericardial effusion)\n", + " \n", + " \n", + " Positive Bartonella henselae nucleic acid test in the blood circulation\n", + " definition of HP:6000550 (Positive Bartonella henselae nucleic acid test in the blood circulation)\n", + " \n", + " \n", + " Detection of nucleic acid of Bartonella henselae in the blood circulation by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR.\n", + " definition of HP:6000550 (Positive Bartonella henselae nucleic acid test in the blood circulation)\n", + " \n", + " \n", + " Spontaneous chorioamniotic separation\n", + " definition of HP:0025712 (Spontaneous chorioamniotic separation)\n", + " \n", + " \n", + " Persistence separation of the chorionic and amnionic membranes after the 16th week of gestation (not as a result of a procedure such as amniocentesis).\n", + " definition of HP:0025712 (Spontaneous chorioamniotic separation)\n", + " \n", + " \n", + " #Amnion-chorion separation\n", + " definition of HP:0025712 (Spontaneous chorioamniotic separation)\n", + " \n", + " \n", + " Slow-growing nails\n", + " definition of HP:0008383 (Slow-growing nails)\n", + " \n", + " \n", + " Nails whose growth is slower than normal.\n", + " definition of HP:0008383 (Slow-growing nails)\n", + " \n", + " \n", + " #Slow-growing nails\n", + " definition of HP:0008383 (Slow-growing nails)\n", + " \n", + " \n", + " Cerebral infarct\n", + " definition of HP:0025722 (Cerebral infarct)\n", + " \n", + " \n", + " A necrotic lesion in the cerebrum resulting from a sudden insufficiency of arterial or venous blood supply due to emboli, thrombi or mechanical factors.\n", + " definition of HP:0025722 (Cerebral infarct)\n", + " \n", + " \n", + " Infrequent social initiations\n", + " definition of HP:5200027 (Infrequent social initiations)\n", + " \n", + " \n", + " Social initiation refers to the ability to begin interactions with other people. This term refers to a reduction in the frequency with which an individual attempts to begin interactions. The term should only be used for individuals who are assessed to have sufficient intellectual and language skills to interact with others.\n", + " definition of HP:5200027 (Infrequent social initiations)\n", + " \n", + " \n", + " #Infrequent attempts to direct the attention of another person #Reduced attempt to get or direct the attention of another person\n", + " definition of HP:5200027 (Infrequent social initiations)\n", + " \n", + " \n", + " Block vertebrae\n", + " definition of HP:0003305 (Block vertebrae)\n", + " \n", + " \n", + " Congenital synostosis between two or more adjacent vertebrae (partial or complete fusion of adjacent vertabral bodies).\n", + " definition of HP:0003305 (Block vertebrae)\n", + " \n", + " \n", + " Best corrected visual acuity 0.6 LogMAR\n", + " definition of HP:0030560 (Best corrected visual acuity 0.6 LogMAR)\n", + " \n", + " \n", + " Multiple digital exostoses\n", + " definition of HP:0005655 (Multiple digital exostoses)\n", + " \n", + " \n", + " Multiple exostoses originating in the fingers and toes.\n", + " definition of HP:0005655 (Multiple digital exostoses)\n", + " \n", + " \n", + " Cystic nephroma\n", + " definition of HP:0034836 (Cystic nephroma)\n", + " \n", + " \n", + " A benign cystic neoplasm of the kidney.\n", + " definition of HP:0034836 (Cystic nephroma)\n", + " \n", + " \n", + " #Bbenign multilocular cystic nephroma #Multicystic nephroma #Multilocular cystic renal tumor #Multilocular cystic renal tumour #Polycystic nephroblastoma\n", + " definition of HP:0034836 (Cystic nephroma)\n", + " \n", + " \n", + " Lens subluxation\n", + " definition of HP:0001132 (Lens subluxation)\n", + " \n", + " \n", + " Partial dislocation of the lens of the eye.\n", + " definition of HP:0001132 (Lens subluxation)\n", + " \n", + " \n", + " #Partially dislocated lens\n", + " definition of HP:0001132 (Lens subluxation)\n", + " \n", + " \n", + " Abnormality of the ureter\n", + " definition of HP:0000069 (Abnormality of the ureter)\n", + " \n", + " \n", + " An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.\n", + " definition of HP:0000069 (Abnormality of the ureter)\n", + " \n", + " \n", + " #Abnormality of the ureters #Ureter issue #Ureteral anomalies\n", + " definition of HP:0000069 (Abnormality of the ureter)\n", + " \n", + " \n", + " Increased lymph-node plasma cells\n", + " definition of HP:0020272 (Increased lymph-node plasma cells)\n", + " \n", + " \n", + " Number of plasma cells per lymph node above the upper limit of normal.\n", + " definition of HP:0020272 (Increased lymph-node plasma cells)\n", + " \n", + " \n", + " Hypoesthesia\n", + " definition of HP:0033748 (Hypoesthesia)\n", + " \n", + " \n", + " Decreased ability to perceive touch.\n", + " definition of HP:0033748 (Hypoesthesia)\n", + " \n", + " \n", + " #Hypoaesthesia #Numbness\n", + " definition of HP:0033748 (Hypoesthesia)\n", + " \n", + " \n", + " Microphakia\n", + " definition of HP:0012376 (Microphakia)\n", + " \n", + " \n", + " Abnormal smallness of the lens.\n", + " definition of HP:0012376 (Microphakia)\n", + " \n", + " \n", + " #Small lens\n", + " definition of HP:0012376 (Microphakia)\n", + " \n", + " \n", + " Maternal autoimmune disease\n", + " definition of HP:0011437 (Maternal autoimmune disease)\n", + " \n", + " \n", + " A medical history of a fetus or child born to a mother with an autoimmune disease.\n", + " definition of HP:0011437 (Maternal autoimmune disease)\n", + " \n", + " \n", + " Increased tear production\n", + " definition of HP:0031731 (Increased tear production)\n", + " \n", + " \n", + " Increased lacrimation owing to overproduction of tears.\n", + " definition of HP:0031731 (Increased tear production)\n", + " \n", + " \n", + " Abnormal circulating prostaglandin circulation\n", + " definition of HP:0011023 (Abnormal circulating prostaglandin circulation)\n", + " \n", + " \n", + " Any deviation from the normal concentration of a prostaglandin in the blood circulation.\n", + " definition of HP:0011023 (Abnormal circulating prostaglandin circulation)\n", + " \n", + " \n", + " Abnormal urinary pyrimidine level\n", + " definition of HP:0033162 (Abnormal urinary pyrimidine level)\n", + " \n", + " \n", + " Any deviation from the normal amount of a pyrimidine compound in the urine. Pyrimidines and pyrimidine derivatives are compounds containing a pyrimidne ring, which is a six-member aromatic heterocycle which consists of two nitrogen atoms (at positions 1 and 3) and four carbon atoms. The nucleotides cytosine, thymine and uracil are pyrimidines.\n", + " definition of HP:0033162 (Abnormal urinary pyrimidine level)\n", + " \n", + " \n", + " Narrow palm\n", + " definition of HP:0004283 (Narrow palm)\n", + " \n", + " \n", + " For children from birth to 4 years of age, the palm width is more than 2 SD below the mean; for children from 4 to 16 years of age the palm width is below the 5th centile; or, the width of the palm appears disproportionately narrow for its length.\n", + " definition of HP:0004283 (Narrow palm)\n", + " \n", + " \n", + " #Narrow hand #Narrow palm\n", + " definition of HP:0004283 (Narrow palm)\n", + " \n", + " \n", + " Circumlimbal hyperemia\n", + " definition of HP:0025338 (Circumlimbal hyperemia)\n", + " \n", + " \n", + " A ring of redness at the limbus of the eye, the border between the cornea and the sclera.\n", + " definition of HP:0025338 (Circumlimbal hyperemia)\n", + " \n", + " \n", + " #Ciliary limbus #Circumlimbal hyperaemia\n", + " definition of HP:0025338 (Circumlimbal hyperemia)\n", + " \n", + " \n", + " Acute infantile spinal muscular atrophy\n", + " definition of HP:0007280 (Acute infantile spinal muscular atrophy)\n", + " \n", + " \n", + " Abnormal circulating isoleucine concentration\n", + " definition of HP:0010912 (Abnormal circulating isoleucine concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of isoleucine in the blood circulation.\n", + " definition of HP:0010912 (Abnormal circulating isoleucine concentration)\n", + " \n", + " \n", + " High-frequency hearing impairment\n", + " definition of HP:0005101 (High-frequency hearing impairment)\n", + " \n", + " \n", + " A type of hearing impairment affecting primarily the higher frequencies of sound (3,000 to 6,000 Hz).\n", + " definition of HP:0005101 (High-frequency hearing impairment)\n", + " \n", + " \n", + " #Hearing loss, high-frequency #High frequency hearing loss #High-frequency deafness #Progressive high frequency hearing loss #Progressive high-frequency hearing loss\n", + " definition of HP:0005101 (High-frequency hearing impairment)\n", + " \n", + " \n", + " Chest pain triggered by palpitation\n", + " definition of HP:6000047 (Chest pain triggered by palpitation)\n", + " \n", + " \n", + " Chest pain can be induced by palpation of the chest, which may be an indication of costochondritis.\n", + " definition of HP:6000047 (Chest pain triggered by palpitation)\n", + " \n", + " \n", + " #Chest pain reproducible on palpation\n", + " definition of HP:6000047 (Chest pain triggered by palpitation)\n", + " \n", + " \n", + " Paroxysmal dyspnea\n", + " definition of HP:0012763 (Paroxysmal dyspnea)\n", + " \n", + " \n", + " A sudden attack of dyspnea that occurs while the affected person is at rest.\n", + " definition of HP:0012763 (Paroxysmal dyspnea)\n", + " \n", + " \n", + " #Paroxysmal dyspnoea\n", + " definition of HP:0012763 (Paroxysmal dyspnea)\n", + " \n", + " \n", + " Crystalline corneal dystrophy\n", + " definition of HP:0007760 (Crystalline corneal dystrophy)\n", + " \n", + " \n", + " Facial erythema\n", + " definition of HP:0001041 (Facial erythema)\n", + " \n", + " \n", + " Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin.\n", + " definition of HP:0001041 (Facial erythema)\n", + " \n", + " \n", + " #Blushed cheeks #Blushing #Red face #Red in the face\n", + " definition of HP:0001041 (Facial erythema)\n", + " \n", + " \n", + " Eruptive vellus hair cyst\n", + " definition of HP:0025248 (Eruptive vellus hair cyst)\n", + " \n", + " \n", + " A cutaneous cyst that is small (one or two millimeters in diameter) and painless, presenting as a follicular papule that usually is skin colored but may have a reddish or brownish tinge.\n", + " definition of HP:0025248 (Eruptive vellus hair cyst)\n", + " \n", + " \n", + " Gliosis\n", + " definition of HP:0002171 (Gliosis)\n", + " \n", + " \n", + " Gliosis is the focal proliferation of glial cells in the central nervous system.\n", + " definition of HP:0002171 (Gliosis)\n", + " \n", + " \n", + " #Cerebral gliosis #Excess astrocytes in brain\n", + " definition of HP:0002171 (Gliosis)\n", + " \n", + " \n", + " Microcolon\n", + " definition of HP:0004388 (Microcolon)\n", + " \n", + " \n", + " A colon of abnormally small caliber.\n", + " definition of HP:0004388 (Microcolon)\n", + " \n", + " \n", + " Anorectal anomaly\n", + " definition of HP:0012732 (Anorectal anomaly)\n", + " \n", + " \n", + " An abnormality of the anus or rectum.\n", + " definition of HP:0012732 (Anorectal anomaly)\n", + " \n", + " \n", + " Triangular shaped middle phalanx of the 2nd finger\n", + " definition of HP:0009575 (Triangular shaped middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " Triangular shaped middle phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.\n", + " definition of HP:0009575 (Triangular shaped middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Triangular shaped middle bone of index finger\n", + " definition of HP:0009575 (Triangular shaped middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " Small sella turcica\n", + " definition of HP:0010538 (Small sella turcica)\n", + " \n", + " \n", + " An abnormally small sella turcica.\n", + " definition of HP:0010538 (Small sella turcica)\n", + " \n", + " \n", + " #Hypoplasia of sella turcica\n", + " definition of HP:0010538 (Small sella turcica)\n", + " \n", + " \n", + " Abnormal circulating interleukin 6 concentration\n", + " definition of HP:6000441 (Abnormal circulating interleukin 6 concentration)\n", + " \n", + " \n", + " Any deviation from the normal range of the concentration of interleukin 6 (IL-6) in the blood circulation.\n", + " definition of HP:6000441 (Abnormal circulating interleukin 6 concentration)\n", + " \n", + " \n", + " Proximal renal tubular acidosis\n", + " definition of HP:0002049 (Proximal renal tubular acidosis)\n", + " \n", + " \n", + " A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia.\n", + " definition of HP:0002049 (Proximal renal tubular acidosis)\n", + " \n", + " \n", + " #Proximal tubular acidosis #Renal tubular acidosis, proximal #Renal tubular acidosis, type II\n", + " definition of HP:0002049 (Proximal renal tubular acidosis)\n", + " \n", + " \n", + " Bracket epiphyses of the hallux\n", + " definition of HP:0010114 (Bracket epiphyses of the hallux)\n", + " \n", + " \n", + " #Bracket shaped end part of big toe bone\n", + " definition of HP:0010114 (Bracket epiphyses of the hallux)\n", + " \n", + " \n", + " Global glomerulosclerosis\n", + " definition of HP:0004737 (Global glomerulosclerosis)\n", + " \n", + " \n", + " Obliteration of the glomerular capillary lumen by increased collagenous matrix, with or without hyalinosis or foam cells. Sclerosis involves 100% of the glomerular tuft. Relative to other patent glomeruli in the sample, glomerular size is preserved, or increased/decreased by no more than 50%.\n", + " definition of HP:0004737 (Global glomerulosclerosis)\n", + " \n", + " \n", + " Megacolon\n", + " definition of HP:6000852 (Megacolon)\n", + " \n", + " \n", + " Persistent and substantial increase in diameter diameter and length of the colon.\n", + " definition of HP:6000852 (Megacolon)\n", + " \n", + " \n", + " Decreased proportion of memory B cells\n", + " definition of HP:0030374 (Decreased proportion of memory B cells)\n", + " \n", + " \n", + " A reduction in the normal proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV).\n", + " definition of HP:0030374 (Decreased proportion of memory B cells)\n", + " \n", + " \n", + " Frontoethmoidal encephalocele\n", + " definition of HP:0007330 (Frontoethmoidal encephalocele)\n", + " \n", + " \n", + " A type of anterior encephalocele in which there is a protrusion of the contents of the skull through a breach at the point where the frontal and ethmoidal bones meet. Frontoethmoidal encephalocele can be divided further into three distinct categories: nasofrontal, nasoethmoidal, and nasoorbital.\n", + " definition of HP:0007330 (Frontoethmoidal encephalocele)\n", + " \n", + " \n", + " #Frontal encephalocele\n", + " definition of HP:0007330 (Frontoethmoidal encephalocele)\n", + " \n", + " \n", + " L-shaped kidney\n", + " definition of HP:0034234 (L-shaped kidney)\n", + " \n", + " \n", + " A type of cross fused renal ectopia in which the crossed kidney lies inferiorly and transversely, fused with the lower pole of the normal kidney.\n", + " definition of HP:0034234 (L-shaped kidney)\n", + " \n", + " \n", + " #Tandem kidney #Type E cross fused renal ectopia\n", + " definition of HP:0034234 (L-shaped kidney)\n", + " \n", + " \n", + " Abnormal inferior thyroid vein morphology\n", + " definition of HP:3000059 (Abnormal inferior thyroid vein morphology)\n", + " \n", + " \n", + " An abnormality of an inferior thyroid vein.\n", + " definition of HP:3000059 (Abnormal inferior thyroid vein morphology)\n", + " \n", + " \n", + " #Abnormality of inferior thyroid vein\n", + " definition of HP:3000059 (Abnormal inferior thyroid vein morphology)\n", + " \n", + " \n", + " Severe failure to thrive\n", + " definition of HP:0001525 (Severe failure to thrive)\n", + " \n", + " \n", + " #Marked failure to thrive #Severe faltering weight #Severe postnatal failure to thrive #Severe weight faltering\n", + " definition of HP:0001525 (Severe failure to thrive)\n", + " \n", + " \n", + " Abnormally rapid thought process\n", + " definition of HP:0025781 (Abnormally rapid thought process)\n", + " \n", + " \n", + " Increased rate or speed of thoughts.\n", + " definition of HP:0025781 (Abnormally rapid thought process)\n", + " \n", + " \n", + " #Abnormally rapid thought processes #Rapid thought process\n", + " definition of HP:0025781 (Abnormally rapid thought process)\n", + " \n", + " \n", + " Complex organic aciduria\n", + " definition of HP:0008336 (Complex organic aciduria)\n", + " \n", + " \n", + " Hypohomocysteinemia\n", + " definition of HP:0020222 (Hypohomocysteinemia)\n", + " \n", + " \n", + " A decreased concentration of homocysteine in the blood.\n", + " definition of HP:0020222 (Hypohomocysteinemia)\n", + " \n", + " \n", + " #Lower blood homocysteine\n", + " definition of HP:0020222 (Hypohomocysteinemia)\n", + " \n", + " \n", + " Bilateral ductus arteriosus\n", + " definition of HP:0011650 (Bilateral ductus arteriosus)\n", + " \n", + " \n", + " The presence of both a left and a right ductus arteriosus.\n", + " definition of HP:0011650 (Bilateral ductus arteriosus)\n", + " \n", + " \n", + " #Bilateral ductus botalli\n", + " definition of HP:0011650 (Bilateral ductus arteriosus)\n", + " \n", + " \n", + " Camptodactyly of 2nd-5th fingers\n", + " definition of HP:0001215 (Camptodactyly of 2nd-5th fingers)\n", + " \n", + " \n", + " The distal interphalangeal joint and/or the proximal interphalangeal joint of the second to fifth fingers cannot be extended to 180 degrees by either active or passive extension.\n", + " definition of HP:0001215 (Camptodactyly of 2nd-5th fingers)\n", + " \n", + " \n", + " Impaired smooth pursuit\n", + " definition of HP:0007772 (Impaired smooth pursuit)\n", + " \n", + " \n", + " An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion.\n", + " definition of HP:0007772 (Impaired smooth pursuit)\n", + " \n", + " \n", + " #Abnormality of visual tracking #Impairment of visual pursuit\n", + " definition of HP:0007772 (Impaired smooth pursuit)\n", + " \n", + " \n", + " Simple renal cyst\n", + " definition of HP:0012581 (Simple renal cyst)\n", + " \n", + " \n", + " An isolated cyst of the kidney.\n", + " definition of HP:0012581 (Simple renal cyst)\n", + " \n", + " \n", + " #Simple kidney cyst #single cortical cyst #Solitary renal cyst\n", + " definition of HP:0012581 (Simple renal cyst)\n", + " \n", + " \n", + " Dumbbell-shaped femur\n", + " definition of HP:0006375 (Dumbbell-shaped femur)\n", + " \n", + " \n", + " The femur is shortened and displays flaring (widening) of the metaphyses.\n", + " definition of HP:0006375 (Dumbbell-shaped femur)\n", + " \n", + " \n", + " #Dumbbell-shaped thighbone\n", + " definition of HP:0006375 (Dumbbell-shaped femur)\n", + " \n", + " \n", + " Distal humeral metaphyseal irregularity\n", + " definition of HP:0003951 (Distal humeral metaphyseal irregularity)\n", + " \n", + " \n", + " Irregularity of the normally smooth surface of the metaphysis at the distal end of the humerus (at the elbow).\n", + " definition of HP:0003951 (Distal humeral metaphyseal irregularity)\n", + " \n", + " \n", + " #Irregular metaphyses of elbow #Irregular wide portion of elbow bone\n", + " definition of HP:0003951 (Distal humeral metaphyseal irregularity)\n", + " \n", + " \n", + " Accelerated atherosclerosis\n", + " definition of HP:0004943 (Accelerated atherosclerosis)\n", + " \n", + " \n", + " Atherosclerosis which occurs in a person with certain risk factors (e.g., SLE, diabetes, smoking, hypertension, hypercholesterolaemia, family history of early heart disease) at an earlier age than would occur in another person without those risk factors.\n", + " definition of HP:0004943 (Accelerated atherosclerosis)\n", + " \n", + " \n", + " Absent middle phalanx of 4th finger\n", + " definition of HP:0009294 (Absent middle phalanx of 4th finger)\n", + " \n", + " \n", + " Absence of the middle phalanx of the ring (4th) finger.\n", + " definition of HP:0009294 (Absent middle phalanx of 4th finger)\n", + " \n", + " \n", + " #Absent middle bone of 4th finger #Aplasia of the middle phalanx of the 4th finger\n", + " definition of HP:0009294 (Absent middle phalanx of 4th finger)\n", + " \n", + " \n", + " Distal/middle symphalangism of 2nd finger\n", + " definition of HP:0009563 (Distal/middle symphalangism of 2nd finger)\n", + " \n", + " \n", + " Fusion of the terminal/distal and middle phalanges of the 2nd finger.\n", + " definition of HP:0009563 (Distal/middle symphalangism of 2nd finger)\n", + " \n", + " \n", + " #Fused outermost and middle index finger bones #Symphalangism of the distal and middle phalanges of the 2nd finger\n", + " definition of HP:0009563 (Distal/middle symphalangism of 2nd finger)\n", + " \n", + " \n", + " Increased urinary hypoxanthine level\n", + " definition of HP:0011814 (Increased urinary hypoxanthine level)\n", + " \n", + " \n", + " The concentration of hypoxanthine in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:0011814 (Increased urinary hypoxanthine level)\n", + " \n", + " \n", + " Unaided visual acuity 1.3 LogMAR\n", + " definition of HP:0030548 (Unaided visual acuity 1.3 LogMAR)\n", + " \n", + " \n", + " Four-vessel umbilical cord\n", + " definition of HP:0032513 (Four-vessel umbilical cord)\n", + " \n", + " \n", + " Four-vessel umbilical cord containing two arteries and two veins.\n", + " definition of HP:0032513 (Four-vessel umbilical cord)\n", + " \n", + " \n", + " Hepatocellular carcinoma\n", + " definition of HP:0001402 (Hepatocellular carcinoma)\n", + " \n", + " \n", + " A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver.\n", + " definition of HP:0001402 (Hepatocellular carcinoma)\n", + " \n", + " \n", + " Nonprogressive restrictive external ophthalmoplegia\n", + " definition of HP:0007831 (Nonprogressive restrictive external ophthalmoplegia)\n", + " \n", + " \n", + " Nonprogressive restriction of movement of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited.\n", + " definition of HP:0007831 (Nonprogressive restrictive external ophthalmoplegia)\n", + " \n", + " \n", + " Exercise-induced asthma\n", + " definition of HP:0012652 (Exercise-induced asthma)\n", + " \n", + " \n", + " Asthma attacks following exercise.\n", + " definition of HP:0012652 (Exercise-induced asthma)\n", + " \n", + " \n", + " #Exercise-induced asthma\n", + " definition of HP:0012652 (Exercise-induced asthma)\n", + " \n", + " \n", + " Hockey-stick palmar crease\n", + " definition of HP:6000112 (Hockey-stick palmar crease)\n", + " \n", + " \n", + " An abnormality of the upper palmar crease whereby the crease widens and ends between the second and third fingers and is said to resemble a hockey stick.\n", + " definition of HP:6000112 (Hockey-stick palmar crease)\n", + " \n", + " \n", + " #Hockey-stick crease\n", + " definition of HP:6000112 (Hockey-stick palmar crease)\n", + " \n", + " \n", + " Pregnancy conceived despite intrauterine device\n", + " definition of HP:6000164 (Pregnancy conceived despite intrauterine device)\n", + " \n", + " \n", + " Intrauterine devices (IUDs) are used for contraception. Rarely pregnancy occurs despite the presence of an IUD. Such pregnancies are associated with an increased risk of spontaneous abortion and preterm delivery due to infection, and a higher risk of maternal septic complications.\n", + " definition of HP:6000164 (Pregnancy conceived despite intrauterine device)\n", + " \n", + " \n", + " Snail-like ilia\n", + " definition of HP:0031026 (Snail-like ilia)\n", + " \n", + " \n", + " The ilia is round and hypoplastic with a very flat acetabular roof and a very unusual medial projection of bone that is said to resemble the head of a snail. Figure 4 of PMID:3799723 illustrates this feature.\n", + " definition of HP:0031026 (Snail-like ilia)\n", + " \n", + " \n", + " #Snail-like pelvis #Snail-shaped ilia\n", + " definition of HP:0031026 (Snail-like ilia)\n", + " \n", + " \n", + " Congenital panfollicular nevus\n", + " definition of HP:0025471 (Congenital panfollicular nevus)\n", + " \n", + " \n", + " A hamartomatous proliferation containing malformed hair follicles in various stages of development. Panfolliculomas are well-circumscribed lesions demonstrating all stages of follicular differentiation.\n", + " definition of HP:0025471 (Congenital panfollicular nevus)\n", + " \n", + " \n", + " Abnormal ossification of the trapezoid bone\n", + " definition of HP:0045004 (Abnormal ossification of the trapezoid bone)\n", + " \n", + " \n", + " Cardiomyocyte hypertrophy\n", + " definition of HP:0031319 (Cardiomyocyte hypertrophy)\n", + " \n", + " \n", + " An increase in cell size, enhanced protein synthesis, and heightened organization of the sarcomere within cardiac myocytes.\n", + " definition of HP:0031319 (Cardiomyocyte hypertrophy)\n", + " \n", + " \n", + " #Myocyte cellular hypertrophy\n", + " definition of HP:0031319 (Cardiomyocyte hypertrophy)\n", + " \n", + " \n", + " Fetal intra-abdominal umbilical vein varix\n", + " definition of HP:0025690 (Fetal intra-abdominal umbilical vein varix)\n", + " \n", + " \n", + " Fetal intra-abdominal umbilical vein varix (FIUVV) is defined by the focal dilatation of the fetal umbilical vein between its entry in the abdomen and its ending in the portal system. The dilatation can be defined using one of the following criteria: a portion of intra-abdominal umbilical vein that is at least 50% wider than the non-dilated portion; a dilatation of 9 mm or more, or a dilatation greater than 2 SD above the mean value for gestational age.\n", + " definition of HP:0025690 (Fetal intra-abdominal umbilical vein varix)\n", + " \n", + " \n", + " #Fetal umbilical vein dilatation #FIUVV #Foetal umbilical vein dilatation\n", + " definition of HP:0025690 (Fetal intra-abdominal umbilical vein varix)\n", + " \n", + " \n", + " Abdominal distention\n", + " definition of HP:0003270 (Abdominal distention)\n", + " \n", + " \n", + " Distention of the abdomen.\n", + " definition of HP:0003270 (Abdominal distention)\n", + " \n", + " \n", + " #Abdominal bloating #Abdominal distension #Abdominal swelling #Belly bloating #Bloating #Distended abdomen\n", + " definition of HP:0003270 (Abdominal distention)\n", + " \n", + " \n", + " Phakodonesis\n", + " definition of HP:0012629 (Phakodonesis)\n", + " \n", + " \n", + " Tremulousness (trembling) of the lens of the eye.\n", + " definition of HP:0012629 (Phakodonesis)\n", + " \n", + " \n", + " #Phacodonesis #Trembling eye lens\n", + " definition of HP:0012629 (Phakodonesis)\n", + " \n", + " \n", + " Loss of ambulation\n", + " definition of HP:0002505 (Loss of ambulation)\n", + " \n", + " \n", + " Inability to walk in a person who previous had the ability to walk.\n", + " definition of HP:0002505 (Loss of ambulation)\n", + " \n", + " \n", + " #Loss of ability to walk\n", + " definition of HP:0002505 (Loss of ambulation)\n", + " \n", + " \n", + " Anti-Hu antibody positivity\n", + " definition of HP:5000016 (Anti-Hu antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Hu.\n", + " definition of HP:5000016 (Anti-Hu antibody positivity)\n", + " \n", + " \n", + " #Anti-ANNA-1 antibody #Anti-Neuronal Nuclear Antibody type-1 antibody\n", + " definition of HP:5000016 (Anti-Hu antibody positivity)\n", + " \n", + " \n", + " Hyperconvex nail\n", + " definition of HP:0001795 (Hyperconvex nail)\n", + " \n", + " \n", + " When viewed on end (with the digit tip pointing toward the examiner's eye) the curve of the nail forms a tighter curve of convexity.\n", + " definition of HP:0001795 (Hyperconvex nail)\n", + " \n", + " \n", + " #Increased nail curvature #Nail overcurvature\n", + " definition of HP:0001795 (Hyperconvex nail)\n", + " \n", + " \n", + " Low placental alkaline phosphatase\n", + " definition of HP:0010688 (Low placental alkaline phosphatase)\n", + " \n", + " \n", + " An abnormally reduced level of alkaline phosphatase, placental type in the blood.\n", + " definition of HP:0010688 (Low placental alkaline phosphatase)\n", + " \n", + " \n", + " #Low placental ALP\n", + " definition of HP:0010688 (Low placental alkaline phosphatase)\n", + " \n", + " \n", + " Muscle fiber tubular inclusions\n", + " definition of HP:0100301 (Muscle fiber tubular inclusions)\n", + " \n", + " \n", + " Unusual regions of densely packed membranous tubules known as tubular aggregates which present as membranous inclusions, derived from membranes of sarcoplasmic reticulum and mitochondria, containing miscellaneous proteins with a variety of enzymatic activities.\n", + " definition of HP:0100301 (Muscle fiber tubular inclusions)\n", + " \n", + " \n", + " #Muscle fiber tubular aggregates #Muscle fibre tubular aggregates #Muscle fibre tubular inclusions\n", + " definition of HP:0100301 (Muscle fiber tubular inclusions)\n", + " \n", + " \n", + " Reduced muscle fiber lamin A/C\n", + " definition of HP:0030124 (Reduced muscle fiber lamin A/C)\n", + " \n", + " \n", + " A decreased amount of lamin A/C in muscle tissue. This feature can be shown by immunohistochemistry or Western blotting of muscle tissue.\n", + " definition of HP:0030124 (Reduced muscle fiber lamin A/C)\n", + " \n", + " \n", + " #Reduced muscle fibre lamin A/C\n", + " definition of HP:0030124 (Reduced muscle fiber lamin A/C)\n", + " \n", + " \n", + " Intraalveolar phospholipid accumulation\n", + " definition of HP:0006517 (Intraalveolar phospholipid accumulation)\n", + " \n", + " \n", + " Accumulation of amorphous PAS-positive material in the space between alveolar macrophages, sometimes as condensed form (oval bodies) are typically found in alveolar proteinosis.\n", + " definition of HP:0006517 (Intraalveolar phospholipid accumulation)\n", + " \n", + " \n", + " #Alveolar proteinosis #Detection of PAS-positive extracellular material in broncho-alveolar lavage #Pulmonary alveolar proteinosis\n", + " definition of HP:0006517 (Intraalveolar phospholipid accumulation)\n", + " \n", + " \n", + " Decreased urinary sulfate\n", + " definition of HP:0003359 (Decreased urinary sulfate)\n", + " \n", + " \n", + " Decreased concentration of sulfate in the urine.\n", + " definition of HP:0003359 (Decreased urinary sulfate)\n", + " \n", + " \n", + " #Decreased urinary sulfate #Decreased urinary sulphate\n", + " definition of HP:0003359 (Decreased urinary sulfate)\n", + " \n", + " \n", + " Apathy\n", + " definition of HP:0000741 (Apathy)\n", + " \n", + " \n", + " Apathy is a quantitative reduction of interest, motivation and the initiation and persistence of goal-directed behavior, where often the accompanying emotions, thoughts, and social interactions are also diminished. The individual is typically non-reactive to provocations, positive or negative, and appears to not care. Distinguished from lethargy which involves lack of physical or mental energy.\n", + " definition of HP:0000741 (Apathy)\n", + " \n", + " \n", + " #Lack of feeling, emotion, interest #Lack of feeling, emotion, interest, motivation, initiation #State of indifference\n", + " definition of HP:0000741 (Apathy)\n", + " \n", + " \n", + " Cervical agenesis\n", + " definition of HP:0030008 (Cervical agenesis)\n", + " \n", + " \n", + " Congenital absence of the uterine cervix.\n", + " definition of HP:0030008 (Cervical agenesis)\n", + " \n", + " \n", + " #Absent cervix #Aplasia of the cervix #Cervical aplasia\n", + " definition of HP:0030008 (Cervical agenesis)\n", + " \n", + " \n", + " Hypoplasia of the eccrine sweat glands\n", + " definition of HP:0040043 (Hypoplasia of the eccrine sweat glands)\n", + " \n", + " \n", + " #Underdeveloped major sweat glands\n", + " definition of HP:0040043 (Hypoplasia of the eccrine sweat glands)\n", + " \n", + " \n", + " Absent right superior vena cava\n", + " definition of HP:0011666 (Absent right superior vena cava)\n", + " \n", + " \n", + " Absence of the right superior vena cava (RSVC). An absent RSVC is always associated with a persistent left superior vena cava (PLSVC). During normal fetal development, the left-sided anterior venous cardinal system regresses, leaving the coronary sinus (CS) and the ligament of Marshall. Failure of the closure of the left anterior cardinal vein results in PLSVC. In general, PLSVC is associated with the right superior vena cava (RSVC) and drains into the RA via a dilated CS. When developmental arrest occurs at an earlier stage, the CS is absent and the PLSVC drains into the left atrium.\n", + " definition of HP:0011666 (Absent right superior vena cava)\n", + " \n", + " \n", + " Broad proximal phalanx of the 2nd toe\n", + " definition of HP:0010396 (Broad proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Broad innermost bone of 2nd toe\n", + " definition of HP:0010396 (Broad proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Mildly reduced contrast sensitivity\n", + " definition of HP:0032108 (Mildly reduced contrast sensitivity)\n", + " \n", + " \n", + " A mild reduction in the ability to perceive visual contrast characterized by 0.20-0.59 log unit contrast sensitivity loss.\n", + " definition of HP:0032108 (Mildly reduced contrast sensitivity)\n", + " \n", + " \n", + " #Mild reduction in contrast sensitivity\n", + " definition of HP:0032108 (Mildly reduced contrast sensitivity)\n", + " \n", + " \n", + " Abnormal lymph-node cellular finding\n", + " definition of HP:0020231 (Abnormal lymph-node cellular finding)\n", + " \n", + " \n", + " Any phenotypic abnormality within cells located in a lymph node.\n", + " definition of HP:0020231 (Abnormal lymph-node cellular finding)\n", + " \n", + " \n", + " Arthralgia\n", + " definition of HP:0002829 (Arthralgia)\n", + " \n", + " \n", + " Joint pain.\n", + " definition of HP:0002829 (Arthralgia)\n", + " \n", + " \n", + " #Arthralgias #Joint pain\n", + " definition of HP:0002829 (Arthralgia)\n", + " \n", + " \n", + " Arachnodactyly\n", + " definition of HP:0001166 (Arachnodactyly)\n", + " \n", + " \n", + " Abnormally long and slender fingers (spider fingers).\n", + " definition of HP:0001166 (Arachnodactyly)\n", + " \n", + " \n", + " #Long slender fingers #Long, slender fingers #Spider fingers\n", + " definition of HP:0001166 (Arachnodactyly)\n", + " \n", + " \n", + " Low alkaline phosphatase\n", + " definition of HP:0003282 (Low alkaline phosphatase)\n", + " \n", + " \n", + " Abnormally reduced serum levels of alkaline phosphatase.\n", + " definition of HP:0003282 (Low alkaline phosphatase)\n", + " \n", + " \n", + " #Decreased serum alkaline phosphatase #Low ALP\n", + " definition of HP:0003282 (Low alkaline phosphatase)\n", + " \n", + " \n", + " Abnormal circulating thyroglobulin concentration\n", + " definition of HP:0025483 (Abnormal circulating thyroglobulin concentration)\n", + " \n", + " \n", + " A deviation from the normal concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones.\n", + " definition of HP:0025483 (Abnormal circulating thyroglobulin concentration)\n", + " \n", + " \n", + " #Abnormal circulating thyroglobulin level\n", + " definition of HP:0025483 (Abnormal circulating thyroglobulin concentration)\n", + " \n", + " \n", + " Postterm pregnancy\n", + " definition of HP:0031169 (Postterm pregnancy)\n", + " \n", + " \n", + " A pregnancy that extends to 42 weeks of gestation or beyond.\n", + " definition of HP:0031169 (Postterm pregnancy)\n", + " \n", + " \n", + " Disinhibition\n", + " definition of HP:0000734 (Disinhibition)\n", + " \n", + " \n", + " Reduced ability to control, or a failure to resist a temptation, urge, or impulse. Examples include disregard for social conventions, general impulsivity, and poor risk assessment.\n", + " definition of HP:0000734 (Disinhibition)\n", + " \n", + " \n", + " #Impulse control disorders #Self-control\n", + " definition of HP:0000734 (Disinhibition)\n", + " \n", + " \n", + " Female sexual dysfunction\n", + " definition of HP:0030014 (Female sexual dysfunction)\n", + " \n", + " \n", + " A problem occurring during any phase of the female sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity\n", + " definition of HP:0030014 (Female sexual dysfunction)\n", + " \n", + " \n", + " Spontaneous esophageal perforation\n", + " definition of HP:0005203 (Spontaneous esophageal perforation)\n", + " \n", + " \n", + " The occurrence of the full-thickness tear (perforation) of the wall of the esophagus.\n", + " definition of HP:0005203 (Spontaneous esophageal perforation)\n", + " \n", + " \n", + " #Spontaneous esophageal rupture\n", + " definition of HP:0005203 (Spontaneous esophageal perforation)\n", + " \n", + " \n", + " Elevated urine pyridinoline level\n", + " definition of HP:0033385 (Elevated urine pyridinoline level)\n", + " \n", + " \n", + " An increased amount of pyridinoline in the urine.\n", + " definition of HP:0033385 (Elevated urine pyridinoline level)\n", + " \n", + " \n", + " #Elevated urine hydroxylysyl-pyridinoline level\n", + " definition of HP:0033385 (Elevated urine pyridinoline level)\n", + " \n", + " \n", + " B-cell lymphoma\n", + " definition of HP:0012191 (B-cell lymphoma)\n", + " \n", + " \n", + " A type of lymphoma that originates in B-cells.\n", + " definition of HP:0012191 (B-cell lymphoma)\n", + " \n", + " \n", + " #B cell lymphoma\n", + " definition of HP:0012191 (B-cell lymphoma)\n", + " \n", + " \n", + " Decreased proportion of naive T cells\n", + " definition of HP:0031397 (Decreased proportion of naive T cells)\n", + " \n", + " \n", + " An abnormally decreased proportion of naive T cells relative to the total number of T cells.\n", + " definition of HP:0031397 (Decreased proportion of naive T cells)\n", + " \n", + " \n", + " #Decreased proportion of naive thymus-derived, alpha-beta T cells #Reduced proportion of naive T cells\n", + " definition of HP:0031397 (Decreased proportion of naive T cells)\n", + " \n", + " \n", + " Endometriosis\n", + " definition of HP:0030127 (Endometriosis)\n", + " \n", + " \n", + " The growth of endometrial tissue outside the uterus.\n", + " definition of HP:0030127 (Endometriosis)\n", + " \n", + " \n", + " Round humeral epiphyses\n", + " definition of HP:0003899 (Round humeral epiphyses)\n", + " \n", + " \n", + " #Round end part of long bone in upper arm\n", + " definition of HP:0003899 (Round humeral epiphyses)\n", + " \n", + " \n", + " Cranial hyperostosis\n", + " definition of HP:0004437 (Cranial hyperostosis)\n", + " \n", + " \n", + " Excessive growth of the bones of cranium, i.e., of the skull.\n", + " definition of HP:0004437 (Cranial hyperostosis)\n", + " \n", + " \n", + " #Hyperostosis of cranial bones #Hyperostosis of cranial vault #Increased ossification of cranial bones\n", + " definition of HP:0004437 (Cranial hyperostosis)\n", + " \n", + " \n", + " H-type rectovestibular fistula\n", + " definition of HP:0025026 (H-type rectovestibular fistula)\n", + " \n", + " \n", + " Rectovestibular fistula with a normal anus is known as H-type fistula or double termination of the alimentary tract.\n", + " definition of HP:0025026 (H-type rectovestibular fistula)\n", + " \n", + " \n", + " Birth length greater than 97th percentile\n", + " definition of HP:0003517 (Birth length greater than 97th percentile)\n", + " \n", + " \n", + " #Fetal overgrowth #Foetal overgrowth\n", + " definition of HP:0003517 (Birth length greater than 97th percentile)\n", + " \n", + " \n", + " Fractured middle phalanx of manual digit 4\n", + " definition of HP:0041184 (Fractured middle phalanx of manual digit 4)\n", + " \n", + " \n", + " A partial or complete breakage of the middle phalanx of manual digit 4.\n", + " definition of HP:0041184 (Fractured middle phalanx of manual digit 4)\n", + " \n", + " \n", + " #bone middle phalanx of manual digit 4\n", + " definition of HP:0041184 (Fractured middle phalanx of manual digit 4)\n", + " \n", + " \n", + " Abnormal B cell count\n", + " definition of HP:0010975 (Abnormal B cell count)\n", + " \n", + " \n", + " A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells.\n", + " definition of HP:0010975 (Abnormal B cell count)\n", + " \n", + " \n", + " #Abnormal number of B cells #Abnormal numbers of B cells #Abnormality of B cell count #Abnormality of B cell numbers\n", + " definition of HP:0010975 (Abnormal B cell count)\n", + " \n", + " \n", + " Obliteration of the calvarial diploe\n", + " definition of HP:0030312 (Obliteration of the calvarial diploe)\n", + " \n", + " \n", + " Absence of the spongy bone structure (or tissue) of the internal part of the skull cap (i.e., of the calvarial diploe).\n", + " definition of HP:0030312 (Obliteration of the calvarial diploe)\n", + " \n", + " \n", + " #Obliteration of cranial cancellous bone\n", + " definition of HP:0030312 (Obliteration of the calvarial diploe)\n", + " \n", + " \n", + " Elevated brain N-acetyl aspartate level by MRS\n", + " definition of HP:0025053 (Elevated brain N-acetyl aspartate level by MRS)\n", + " \n", + " \n", + " An increase in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS).\n", + " definition of HP:0025053 (Elevated brain N-acetyl aspartate level by MRS)\n", + " \n", + " \n", + " #Elevated brain N-acetyl aspartate level by magnetic resonance spectroscopy\n", + " definition of HP:0025053 (Elevated brain N-acetyl aspartate level by MRS)\n", + " \n", + " \n", + " Pain alleviated by testicle elevation\n", + " definition of HP:6000170 (Pain alleviated by testicle elevation)\n", + " \n", + " \n", + " This refers to testicular pain that is lessened or made more bearable by elevation of the testicle.\n", + " definition of HP:6000170 (Pain alleviated by testicle elevation)\n", + " \n", + " \n", + " #Prehn's sign #Testicle elevation relieves pain\n", + " definition of HP:6000170 (Pain alleviated by testicle elevation)\n", + " \n", + " \n", + " Calcaneal epiphyseal stippling\n", + " definition of HP:0004695 (Calcaneal epiphyseal stippling)\n", + " \n", + " \n", + " The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the calcaneus.\n", + " definition of HP:0004695 (Calcaneal epiphyseal stippling)\n", + " \n", + " \n", + " Increased sensitivity to ionizing radiation\n", + " definition of HP:0011133 (Increased sensitivity to ionizing radiation)\n", + " \n", + " \n", + " An abnormally increased sensitivity to the effects of ionizing radiation.\n", + " definition of HP:0011133 (Increased sensitivity to ionizing radiation)\n", + " \n", + " \n", + " #Increased sensitivity to ionizing radiation\n", + " definition of HP:0011133 (Increased sensitivity to ionizing radiation)\n", + " \n", + " \n", + " Hydroxylysinuria\n", + " definition of HP:0032414 (Hydroxylysinuria)\n", + " \n", + " \n", + " The presence of an elevated amount of 5-hydroxylysine in the urine. This compound is a hydroxylated derivative of the amino acid lysine that is present in certain collagens.\n", + " definition of HP:0032414 (Hydroxylysinuria)\n", + " \n", + " \n", + " #Hydroxylysine high in urine\n", + " definition of HP:0032414 (Hydroxylysinuria)\n", + " \n", + " \n", + " Spina bifida occulta at L5\n", + " definition of HP:0004601 (Spina bifida occulta at L5)\n", + " \n", + " \n", + " The closed form of spina bifida with incomplete closure of the vertebra L5 with intact overlying skin.\n", + " definition of HP:0004601 (Spina bifida occulta at L5)\n", + " \n", + " \n", + " Labial hypoplasia\n", + " definition of HP:0000066 (Labial hypoplasia)\n", + " \n", + " \n", + " #Hypoplastic labia #Underdeveloped labia\n", + " definition of HP:0000066 (Labial hypoplasia)\n", + " \n", + " \n", + " Uterine cervix mass\n", + " definition of HP:0034884 (Uterine cervix mass)\n", + " \n", + " \n", + " A swelling or enlargement localized to the cervis of the uterus. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.\n", + " definition of HP:0034884 (Uterine cervix mass)\n", + " \n", + " \n", + " Reduced aspartoacylase activity in cultured fibroblasts\n", + " definition of HP:6000354 (Reduced aspartoacylase activity in cultured fibroblasts)\n", + " \n", + " \n", + " Activity of aspartoacylase below the lower limit of normal in cultured fibroblasts. Aspartoacylase (EC 3.5.1.15), also called aminoacylase-2, is an enzyme that hydrolyzes N-acetyl-L-aspartic acid (NAA) to aspartate and acetate.\n", + " definition of HP:6000354 (Reduced aspartoacylase activity in cultured fibroblasts)\n", + " \n", + " \n", + " Increased urine deoxypyridinoline level\n", + " definition of HP:0033355 (Increased urine deoxypyridinoline level)\n", + " \n", + " \n", + " An increased level of deoxypyridinoline in the urine. Deoxypyridinoline is a crosslink product of collagen molecules found in bone and excreted in urine during bone degradation, has been described as a marker of bone turnover.\n", + " definition of HP:0033355 (Increased urine deoxypyridinoline level)\n", + " \n", + " \n", + " #Elevated urinary DPD\n", + " definition of HP:0033355 (Increased urine deoxypyridinoline level)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the distal phalanx of the 5th toe\n", + " definition of HP:0100371 (Aplasia/Hypoplasia of the distal phalanx of the 5th toe)\n", + " \n", + " \n", + " #Absent/small outermost little toe bone #Absent/small outermost pinkie toe bone #Absent/small outermost pinky toe bone #Absent/underdeveloped outermost pinky toe bone\n", + " definition of HP:0100371 (Aplasia/Hypoplasia of the distal phalanx of the 5th toe)\n", + " \n", + " \n", + " Fetal ascites\n", + " definition of HP:0001791 (Fetal ascites)\n", + " \n", + " \n", + " Accumulation of fluid in the peritoneal cavity during the fetal period.\n", + " definition of HP:0001791 (Fetal ascites)\n", + " \n", + " \n", + " #Foetal ascites\n", + " definition of HP:0001791 (Fetal ascites)\n", + " \n", + " \n", + " Thoracic scoliosis\n", + " definition of HP:0002943 (Thoracic scoliosis)\n", + " \n", + " \n", + " Decreased circulating beta-2-microglobulin level\n", + " definition of HP:0025347 (Decreased circulating beta-2-microglobulin level)\n", + " \n", + " \n", + " Reduced concentration of beta-2-microglobulin in the blood.\n", + " definition of HP:0025347 (Decreased circulating beta-2-microglobulin level)\n", + " \n", + " \n", + " #Reduced circulating beta-2-microglobulin level\n", + " definition of HP:0025347 (Decreased circulating beta-2-microglobulin level)\n", + " \n", + " \n", + " Symphalangism affecting the phalanges of the 3rd toe\n", + " definition of HP:0010365 (Symphalangism affecting the phalanges of the 3rd toe)\n", + " \n", + " \n", + " #Fused bones of 3rd toe\n", + " definition of HP:0010365 (Symphalangism affecting the phalanges of the 3rd toe)\n", + " \n", + " \n", + " Abnormality of pain sensation\n", + " definition of HP:0010832 (Abnormality of pain sensation)\n", + " \n", + " \n", + " Pain is an unpleasant sensation that can range from mild, localized discomfort to agony, whereby the physical part of pain results from nerve stimulation and is often accompanied by an emotional component. This term groups abnormalities in pain sensation presumed to result from abnormalities related to the specific nerve fibers that carry the pain impulses to the brain.\n", + " definition of HP:0010832 (Abnormality of pain sensation)\n", + " \n", + " \n", + " Short metacarpals with rounded proximal ends\n", + " definition of HP:0006161 (Short metacarpals with rounded proximal ends)\n", + " \n", + " \n", + " #Short long bone of hand with rounded innermost ends\n", + " definition of HP:0006161 (Short metacarpals with rounded proximal ends)\n", + " \n", + " \n", + " Wide epiphyses of the upper limbs\n", + " definition of HP:0003904 (Wide epiphyses of the upper limbs)\n", + " \n", + " \n", + " #Broad epiphyses of the upper limbs #Wide end part of upper limb bones\n", + " definition of HP:0003904 (Wide epiphyses of the upper limbs)\n", + " \n", + " \n", + " Kinetic tremor\n", + " definition of HP:0030186 (Kinetic tremor)\n", + " \n", + " \n", + " Tremor that occurs during any voluntary movement. It may include visually or non-visually guided movements. Tremor during target directed movement is called intention tremor.\n", + " definition of HP:0030186 (Kinetic tremor)\n", + " \n", + " \n", + " #Essential tremor\n", + " definition of HP:0030186 (Kinetic tremor)\n", + " \n", + " \n", + " Renal arteriole intima/media arteriolosclerosis\n", + " definition of HP:0033907 (Renal arteriole intima/media arteriolosclerosis)\n", + " \n", + " \n", + " Thickening of the intima of renal arterioles with fibrosis and/or duplication of the elastic lamina.\n", + " definition of HP:0033907 (Renal arteriole intima/media arteriolosclerosis)\n", + " \n", + " \n", + " Absent epiphysis of the 1st metacarpal\n", + " definition of HP:0010015 (Absent epiphysis of the 1st metacarpal)\n", + " \n", + " \n", + " #Absent end part of the 1st long bone of hand\n", + " definition of HP:0010015 (Absent epiphysis of the 1st metacarpal)\n", + " \n", + " \n", + " Irregular epiphyses of the hallux\n", + " definition of HP:0010118 (Irregular epiphyses of the hallux)\n", + " \n", + " \n", + " #Irregular end part of big toe bone\n", + " definition of HP:0010118 (Irregular epiphyses of the hallux)\n", + " \n", + " \n", + " Progressive inspiratory stridor\n", + " definition of HP:0005951 (Progressive inspiratory stridor)\n", + " \n", + " \n", + " Adrenal cortical sclerosis\n", + " definition of HP:0034829 (Adrenal cortical sclerosis)\n", + " \n", + " \n", + " Abnormal thickening of of the outer layer (cortex) of the adrenal gland due to fibrosis.\n", + " definition of HP:0034829 (Adrenal cortical sclerosis)\n", + " \n", + " \n", + " Focal automatism seizure\n", + " definition of HP:0032898 (Focal automatism seizure)\n", + " \n", + " \n", + " A focal seizure characterized at onset by coordinated motor activity. This often resembles a voluntary movement and may consist of an inappropriate continuation of preictal motor activity.\n", + " definition of HP:0032898 (Focal automatism seizure)\n", + " \n", + " \n", + " Triggered by fasting\n", + " definition of HP:0025212 (Triggered by fasting)\n", + " \n", + " \n", + " Applies to a sign or symptom that is provoked or brought about by abstaining from eating food (fasting).\n", + " definition of HP:0025212 (Triggered by fasting)\n", + " \n", + " \n", + " #Fasting triggered attacks #Fasting triggered symptoms #Triggered by fasting\n", + " definition of HP:0025212 (Triggered by fasting)\n", + " \n", + " \n", + " Absent dorsal skin creases over affected joints\n", + " definition of HP:0001049 (Absent dorsal skin creases over affected joints)\n", + " \n", + " \n", + " Absent knee epiphyses\n", + " definition of HP:0006400 (Absent knee epiphyses)\n", + " \n", + " \n", + " #Absent knee end part\n", + " definition of HP:0006400 (Absent knee epiphyses)\n", + " \n", + " \n", + " Urinary bladder neurofibroma\n", + " definition of HP:0034646 (Urinary bladder neurofibroma)\n", + " \n", + " \n", + " A neurofibroma (benign peripheral nerve sheath tumor) located in the urinary bladder.\n", + " definition of HP:0034646 (Urinary bladder neurofibroma)\n", + " \n", + " \n", + " #Bladder neurofibroma\n", + " definition of HP:0034646 (Urinary bladder neurofibroma)\n", + " \n", + " \n", + " Peters anomaly\n", + " definition of HP:0000659 (Peters anomaly)\n", + " \n", + " \n", + " A form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. Peters anomaly is characterized by central, paracentral, or complete corneal opacity.\n", + " definition of HP:0000659 (Peters anomaly)\n", + " \n", + " \n", + " Mild microcephaly\n", + " definition of HP:0040196 (Mild microcephaly)\n", + " \n", + " \n", + " Decreased occipito-frontal (head) circumference (OFC). For the microcephaly OFC must be between -3 SD and -2 SD compared to appropriate, age matched, normal standards (i.e. -3 SD <= OFC < -2 SD).\n", + " definition of HP:0040196 (Mild microcephaly)\n", + " \n", + " \n", + " Inferior rectus muscle restriction\n", + " definition of HP:0025602 (Inferior rectus muscle restriction)\n", + " \n", + " \n", + " Mechanical limitation of the range of movement of the inferior rectus muscle.\n", + " definition of HP:0025602 (Inferior rectus muscle restriction)\n", + " \n", + " \n", + " Hyperosthenuria\n", + " definition of HP:0033359 (Hyperosthenuria)\n", + " \n", + " \n", + " An abnormally high urinary specific gravity, i.e., increased concentration of solutes in the urine.\n", + " definition of HP:0033359 (Hyperosthenuria)\n", + " \n", + " \n", + " #Elevated urine osmolality #Elevated urine osmolarity\n", + " definition of HP:0033359 (Hyperosthenuria)\n", + " \n", + " \n", + " Type II lissencephaly\n", + " definition of HP:0007260 (Type II lissencephaly)\n", + " \n", + " \n", + " A form of lissencephaly characterized by an uneven cortical surface with a so called 'cobblestone' appearace. There are no distinguishable cortical layers.\n", + " definition of HP:0007260 (Type II lissencephaly)\n", + " \n", + " \n", + " #Cobblestone lissencephaly #Lissencephaly type II #Type 2 lissencephaly\n", + " definition of HP:0007260 (Type II lissencephaly)\n", + " \n", + " \n", + " Prominent interphalangeal joints\n", + " definition of HP:0006237 (Prominent interphalangeal joints)\n", + " \n", + " \n", + " #Prominent hinge joints\n", + " definition of HP:0006237 (Prominent interphalangeal joints)\n", + " \n", + " \n", + " Microcoria\n", + " definition of HP:0025492 (Microcoria)\n", + " \n", + " \n", + " A small pupil (typically diameter less than 2 mm) that dilates poorly or not at all in response to topically administered mydriatic drugs.\n", + " definition of HP:0025492 (Microcoria)\n", + " \n", + " \n", + " Diminished long-chain-enoyl-CoA hydratase activity in cultured fibroblasts\n", + " definition of HP:6001023 (Diminished long-chain-enoyl-CoA hydratase activity in cultured fibroblasts)\n", + " \n", + " \n", + " Concentration or activity of long-chain-enoyl-CoA hydratase (EC 4.2.1.74) as measured in cultured fibroblasts is below the limits of normal.\n", + " definition of HP:6001023 (Diminished long-chain-enoyl-CoA hydratase activity in cultured fibroblasts)\n", + " \n", + " \n", + " Hyperpigmented papule\n", + " definition of HP:0025473 (Hyperpigmented papule)\n", + " \n", + " \n", + " A papule (circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point) that exhibits increased pigmentation (is darker) compared to the surrounding skin.\n", + " definition of HP:0025473 (Hyperpigmented papule)\n", + " \n", + " \n", + " Cortical cataract\n", + " definition of HP:0100019 (Cortical cataract)\n", + " \n", + " \n", + " A cataract which affects the layer of the lens surrounding the nucleus, i.e., the lens cortex. It is identified by its unique wedge or spoke appearance.\n", + " definition of HP:0100019 (Cortical cataract)\n", + " \n", + " \n", + " Decreased circulating acid maltase activity\n", + " definition of HP:0034932 (Decreased circulating acid maltase activity)\n", + " \n", + " \n", + " Activity of the enzyme acid maltase (also known as alpha-1,4-glucosidase) below the lower limit of normal.\n", + " definition of HP:0034932 (Decreased circulating acid maltase activity)\n", + " \n", + " \n", + " #Decreased alpha-1,4-glucosidase activity\n", + " definition of HP:0034932 (Decreased circulating acid maltase activity)\n", + " \n", + " \n", + " Elevated urine aconitic acid level\n", + " definition of HP:0033101 (Elevated urine aconitic acid level)\n", + " \n", + " \n", + " An abnormally increased level of aconitic acid in the urine.\n", + " definition of HP:0033101 (Elevated urine aconitic acid level)\n", + " \n", + " \n", + " Malformation of the hepatic ductal plate\n", + " definition of HP:0006563 (Malformation of the hepatic ductal plate)\n", + " \n", + " \n", + " Ventricular bigeminy\n", + " definition of HP:0034306 (Ventricular bigeminy)\n", + " \n", + " \n", + " An electrocardiographic finding of a normal QRS followed by a premature ventricular contraction; a rhythmic pairing of normal and atypical beats originating in the ventricles in a 1-1 ratio such that an ectopic ventricular beat follows each regular heartbeat.\n", + " definition of HP:0034306 (Ventricular bigeminy)\n", + " \n", + " \n", + " Incomplete breech presentation\n", + " definition of HP:0010861 (Incomplete breech presentation)\n", + " \n", + " \n", + " A kind of breech presentation in which one or both hips are extended and one or both of the fetus' feet are pointing down and entering the birth canal.\n", + " definition of HP:0010861 (Incomplete breech presentation)\n", + " \n", + " \n", + " Lipomeningocele\n", + " definition of HP:0030710 (Lipomeningocele)\n", + " \n", + " \n", + " A form of closed neural tube defect in which the spinal tissue lies within the spinal cord having a junction between the spinal cord and the lipoma. Intact skin covers the defect. Neurologic findings first appear during the second year of life.\n", + " definition of HP:0030710 (Lipomeningocele)\n", + " \n", + " \n", + " Lower extremity akinesia\n", + " definition of HP:0033411 (Lower extremity akinesia)\n", + " \n", + " \n", + " Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily in the lower extremities.\n", + " definition of HP:0033411 (Lower extremity akinesia)\n", + " \n", + " \n", + " Focal impaired awareness orofacial automatism seizure\n", + " definition of HP:0032918 (Focal impaired awareness orofacial automatism seizure)\n", + " \n", + " \n", + " A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by orofacial automatisms at onset.\n", + " definition of HP:0032918 (Focal impaired awareness orofacial automatism seizure)\n", + " \n", + " \n", + " Vertical orbital dystopia\n", + " definition of HP:0030867 (Vertical orbital dystopia)\n", + " \n", + " \n", + " The orbits do not lie on the same horizontal plane, that is, one eye is lower than the other.\n", + " definition of HP:0030867 (Vertical orbital dystopia)\n", + " \n", + " \n", + " #Eyes at different heights #Misaligned eyes #Unequal eye height\n", + " definition of HP:0030867 (Vertical orbital dystopia)\n", + " \n", + " \n", + " Abnormality of the dentition\n", + " definition of HP:0000164 (Abnormality of the dentition)\n", + " \n", + " \n", + " Any abnormality of the teeth.\n", + " definition of HP:0000164 (Abnormality of the dentition)\n", + " \n", + " \n", + " #Abnormal dentition #Abnormal teeth #Dental abnormalities #Dental abnormality #Dental anomalies\n", + " definition of HP:0000164 (Abnormality of the dentition)\n", + " \n", + " \n", + " Fragmentation of the metacarpal epiphyses\n", + " definition of HP:0009189 (Fragmentation of the metacarpal epiphyses)\n", + " \n", + " \n", + " Fragmented appearance of the epiphyses of the metacarpals.\n", + " definition of HP:0009189 (Fragmentation of the metacarpal epiphyses)\n", + " \n", + " \n", + " #Fragmentation of end part of the long bone of hand\n", + " definition of HP:0009189 (Fragmentation of the metacarpal epiphyses)\n", + " \n", + " \n", + " Crohn's disease\n", + " definition of HP:0100280 (Crohn's disease)\n", + " \n", + " \n", + " A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn's disease is thought to be an autoimmune disease, in which the body's immune system attacks the gastrointestinal tract, causing inflammation.\n", + " definition of HP:0100280 (Crohn's disease)\n", + " \n", + " \n", + " #Granulomatous enteritis and colitis #Morbus Crohn\n", + " definition of HP:0100280 (Crohn's disease)\n", + " \n", + " \n", + " Marker expression\n", + " definition of HP:0430091 (Marker expression)\n", + " \n", + " \n", + " Detection of an marker such as a protein by immunohistochemistry or related investigation techniques. The presence or absence of such markers can be used to identify cell types on the basis of a profile of expressed markers. These terms do not imply abnormality and can be used for any cell type or organ.\n", + " definition of HP:0430091 (Marker expression)\n", + " \n", + " \n", + " Abnormal urinary nitrogen compound level\n", + " definition of HP:0040416 (Abnormal urinary nitrogen compound level)\n", + " \n", + " \n", + " The amount of a nitrogen compound in the urine, normalized for urine concentration, is outside of normal limits.\n", + " definition of HP:0040416 (Abnormal urinary nitrogen compound level)\n", + " \n", + " \n", + " Monoclonal elevation of intact IgG\n", + " definition of HP:0032291 (Monoclonal elevation of intact IgG)\n", + " \n", + " \n", + " A type of monoclonal elevation of IgG in which the involved immunoglobulin has a normal structure with a light and heavy chain.\n", + " definition of HP:0032291 (Monoclonal elevation of intact IgG)\n", + " \n", + " \n", + " Abnormal lung lobation\n", + " definition of HP:0002101 (Abnormal lung lobation)\n", + " \n", + " \n", + " A developmental defect in the formation of pulmonary lobes.\n", + " definition of HP:0002101 (Abnormal lung lobation)\n", + " \n", + " \n", + " #Abnormal pulmonary lobation #Defective lung lobation #Lung segmentation defects\n", + " definition of HP:0002101 (Abnormal lung lobation)\n", + " \n", + " \n", + " Tonic status epilepticus\n", + " definition of HP:0032670 (Tonic status epilepticus)\n", + " \n", + " \n", + " Tonic status epilepticus is a type of status epilepticus characterized by focal or bilateral limb stiffening or elevation, which may be electrographically generalized or focal.\n", + " definition of HP:0032670 (Tonic status epilepticus)\n", + " \n", + " \n", + " Increased circulating free T3\n", + " definition of HP:0011788 (Increased circulating free T3)\n", + " \n", + " \n", + " An elevated concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation.\n", + " definition of HP:0011788 (Increased circulating free T3)\n", + " \n", + " \n", + " #Increased circulating free triiodothyronine #Increased serum free T3 #Increased serum free triiodothyronine #Increased serum fT3\n", + " definition of HP:0011788 (Increased circulating free T3)\n", + " \n", + " \n", + " Hypomature dental enamel\n", + " definition of HP:0011085 (Hypomature dental enamel)\n", + " \n", + " \n", + " A form of hypomineralization of enamel characterized by a chalky appearance of the enamel with orange, brown, or white color.\n", + " definition of HP:0011085 (Hypomature dental enamel)\n", + " \n", + " \n", + " #Immature tooth enamel\n", + " definition of HP:0011085 (Hypomature dental enamel)\n", + " \n", + " \n", + " Neonatal bilateral asymmetric tonic seizure\n", + " definition of HP:0032831 (Neonatal bilateral asymmetric tonic seizure)\n", + " \n", + " \n", + " Neonatal bilateral asymmetric tonic seizure is a type of neonatal electro-clinical tonic seizure where the sustained increase in muscle tone, lasting a few seconds to minutes, occurs at both sides of the body but asymmetrically.\n", + " definition of HP:0032831 (Neonatal bilateral asymmetric tonic seizure)\n", + " \n", + " \n", + " Facial diplegia\n", + " definition of HP:0001349 (Facial diplegia)\n", + " \n", + " \n", + " Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy).\n", + " definition of HP:0001349 (Facial diplegia)\n", + " \n", + " \n", + " #Bilateral facial weakness #Facial paresis, bilateral\n", + " definition of HP:0001349 (Facial diplegia)\n", + " \n", + " \n", + " Pulmonary air embolism\n", + " definition of HP:0033426 (Pulmonary air embolism)\n", + " \n", + " \n", + " Venous air embolism is a consequence of air being introduced into the venous circulation, and subsequently to the right heart, and pulmonary circulation. When small amounts of air reach pulmonary circulation they can be removed by gas diffusion across the arteriolar wall into the alveoli, amounts of gas exceeding 50 ml can cause pulmonary outflow tract obstruction with or without concomitant arterial embolisation.\n", + " definition of HP:0033426 (Pulmonary air embolism)\n", + " \n", + " \n", + " #Venous air embolism\n", + " definition of HP:0033426 (Pulmonary air embolism)\n", + " \n", + " \n", + " Focal hypointensity of cerebral white matter on MRI\n", + " definition of HP:0040331 (Focal hypointensity of cerebral white matter on MRI)\n", + " \n", + " \n", + " Increased factor IX activity\n", + " definition of HP:0033061 (Increased factor IX activity)\n", + " \n", + " \n", + " Elevated activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa.\n", + " definition of HP:0033061 (Increased factor IX activity)\n", + " \n", + " \n", + " Esophageal exudate\n", + " definition of HP:0031985 (Esophageal exudate)\n", + " \n", + " \n", + " An exudate is a mass of fluid and cells that has seeped out of blood vessels or an organ, usually related to inflammation. In the esophagus, exudates usually present as whitish plagues on the surface of the esophageal mucosa.\n", + " definition of HP:0031985 (Esophageal exudate)\n", + " \n", + " \n", + " Cardiac teratoma\n", + " definition of HP:0011674 (Cardiac teratoma)\n", + " \n", + " \n", + " A teratoma within the heart. Most commonly, these tumors are detected in the pericardial cavity attached to the pulmonary artery and aorta. The tumor size within the heart varies from 2 to 9 cm in diameter, and intrapericardial tumors as large as 15 cm have been reported. Intracardiac tumors arise from the atrial or ventricular wall as nodular masses protruding into the cardiac chambers. Cardiac and pericardial teratomas are easily detected in the fetus and neonate by two-dimensional echocardiography as heterogeneous and encapsulated cystic masses. Histologically, cardiac teratomas contain multiple immature elements including epithelium, neuroglial tissue, thyroid, pancreas, smooth and skeletal muscle, cartilage and bone.\n", + " definition of HP:0011674 (Cardiac teratoma)\n", + " \n", + " \n", + " Recurrent cerebral hemorrhage\n", + " definition of HP:0004968 (Recurrent cerebral hemorrhage)\n", + " \n", + " \n", + " Recurrent bleeding into the parenchyma of the brain.\n", + " definition of HP:0004968 (Recurrent cerebral hemorrhage)\n", + " \n", + " \n", + " #Recurrent cerebral haemorrhage #Recurrent hemorrhagic stroke\n", + " definition of HP:0004968 (Recurrent cerebral hemorrhage)\n", + " \n", + " \n", + " Intermittent claudication\n", + " definition of HP:0004417 (Intermittent claudication)\n", + " \n", + " \n", + " Intermittent claudication is a symptom of peripheral arterial occlusive disease. After having walked over a distance which is individually characteristic, the patients experience pain or cramps in the calves, feet or thighs which typically subsides on standing still.\n", + " definition of HP:0004417 (Intermittent claudication)\n", + " \n", + " \n", + " Decreased proportion of unswitched memory B cells\n", + " definition of HP:0032126 (Decreased proportion of unswitched memory B cells)\n", + " \n", + " \n", + " A reduction below the normal proportion of non-class-switched memory B cells relative to the total number of B cells.\n", + " definition of HP:0032126 (Decreased proportion of unswitched memory B cells)\n", + " \n", + " \n", + " #Decreased proportion of non-class-switched memory B cells #Reduced proportion of unswitched memory B cells\n", + " definition of HP:0032126 (Decreased proportion of unswitched memory B cells)\n", + " \n", + " \n", + " Decreased CSF 5-hydroxyindolacetic acid concentration\n", + " definition of HP:0025455 (Decreased CSF 5-hydroxyindolacetic acid concentration)\n", + " \n", + " \n", + " 5-HIAA (5-hydroxyindolacetic acid) concentration in the cerebrospinal fluid (CSF) is below the lower limit of normal.\n", + " definition of HP:0025455 (Decreased CSF 5-hydroxyindolacetic acid concentration)\n", + " \n", + " \n", + " #Decreased CSF 5-HIAA #Low CSF 5-HIAA #Low CSF 5-hydroxyindolacetic acid\n", + " definition of HP:0025455 (Decreased CSF 5-hydroxyindolacetic acid concentration)\n", + " \n", + " \n", + " Decreased CD4:CD8 ratio\n", + " definition of HP:0033222 (Decreased CD4:CD8 ratio)\n", + " \n", + " \n", + " An abnormal reduction of the relative proportion of CD4+ to CD8+ T cells.\n", + " definition of HP:0033222 (Decreased CD4:CD8 ratio)\n", + " \n", + " \n", + " #Inverted CD4/CD8 ratio #Inverted CD4:CD8 ratio\n", + " definition of HP:0033222 (Decreased CD4:CD8 ratio)\n", + " \n", + " \n", + " Reduced circulating vitamin A concentration\n", + " definition of HP:0004905 (Reduced circulating vitamin A concentration)\n", + " \n", + " \n", + " Concentration of vitamin A below the lower limit of normal in the blood circulation.\n", + " definition of HP:0004905 (Reduced circulating vitamin A concentration)\n", + " \n", + " \n", + " #Low levels of vitamin A #Vitamin A deficiency\n", + " definition of HP:0004905 (Reduced circulating vitamin A concentration)\n", + " \n", + " \n", + " Polymelia\n", + " definition of HP:0033766 (Polymelia)\n", + " \n", + " \n", + " Polymelia is a congenital anomaly, which is defined as the presence of accessory limbs attached to various body regions and could be classified as cephalomelia (extra-limb attached to the head), notomelia (extra-limb attached to the back bone), thoracomelia (extra-limb attached to the thorax), and pyromelia (extra-limb attached to the pelvis).\n", + " definition of HP:0033766 (Polymelia)\n", + " \n", + " \n", + " Intestinal carcinoid\n", + " definition of HP:0006723 (Intestinal carcinoid)\n", + " \n", + " \n", + " Retrocollis\n", + " definition of HP:0002544 (Retrocollis)\n", + " \n", + " \n", + " A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture.\n", + " definition of HP:0002544 (Retrocollis)\n", + " \n", + " \n", + " Type I transferrin isoform profile\n", + " definition of HP:0003642 (Type I transferrin isoform profile)\n", + " \n", + " \n", + " Abnormal transferrin isoform profile consistent with a type I congenital disorder of glycosylation. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II.\n", + " definition of HP:0003642 (Type I transferrin isoform profile)\n", + " \n", + " \n", + " #Abnormal isoelectric focusing of serum transferrin, type I pattern #Isoelectric focusing of serum transferrin consistent with CDG type I #Type 1 transferrin isoform profile\n", + " definition of HP:0003642 (Type I transferrin isoform profile)\n", + " \n", + " \n", + " Clinodactyly of the 4th toe\n", + " definition of HP:0011918 (Clinodactyly of the 4th toe)\n", + " \n", + " \n", + " Bending or curvature of a fourth toe in the tibial direction (i.e., towards the big toe).\n", + " definition of HP:0011918 (Clinodactyly of the 4th toe)\n", + " \n", + " \n", + " Decreased LDL cholesterol concentration\n", + " definition of HP:0003563 (Decreased LDL cholesterol concentration)\n", + " \n", + " \n", + " An decreased concentration of low-density lipoprotein cholesterol in the blood.\n", + " definition of HP:0003563 (Decreased LDL cholesterol concentration)\n", + " \n", + " \n", + " #Decreased circulating low-density lipoprotein levels #Decreased LDLc concentration #Hypobetalipoproteinemia\n", + " definition of HP:0003563 (Decreased LDL cholesterol concentration)\n", + " \n", + " \n", + " Decreased level of plasminogen\n", + " definition of HP:0040228 (Decreased level of plasminogen)\n", + " \n", + " \n", + " A decreased level of Plasminogen\n", + " definition of HP:0040228 (Decreased level of plasminogen)\n", + " \n", + " \n", + " #Hypoplasminogenemia\n", + " definition of HP:0040228 (Decreased level of plasminogen)\n", + " \n", + " \n", + " Increased circulating 17 hydroxypregnenolone concentration\n", + " definition of HP:0033809 (Increased circulating 17 hydroxypregnenolone concentration)\n", + " \n", + " \n", + " Increased concentration of 17alpha-hydroxypregnenolone in the blood circulation. 17alpha-hydroxypregnenolone is a 21-carbon steroid that is converted from pregnenolone by steroid 17-alpha-hydroxylase, as an intermediate in the biosynthesis of gonadal steroid hormones and adrenal corticosteroids.\n", + " definition of HP:0033809 (Increased circulating 17 hydroxypregnenolone concentration)\n", + " \n", + " \n", + " Reduced antigen-specific T cell proliferation\n", + " definition of HP:0031402 (Reduced antigen-specific T cell proliferation)\n", + " \n", + " \n", + " Impaired proliferation and expansion of a T cell population following activation by an antigenic stimulus.\n", + " definition of HP:0031402 (Reduced antigen-specific T cell proliferation)\n", + " \n", + " \n", + " #Antigen-specific T cell proliferation defect #Impaired activated T cell proliferation #Impaired Ag-specific T cell proliferation\n", + " definition of HP:0031402 (Reduced antigen-specific T cell proliferation)\n", + " \n", + " \n", + " Thrombocytosis\n", + " definition of HP:0001894 (Thrombocytosis)\n", + " \n", + " \n", + " Increased numbers of platelets in the peripheral blood.\n", + " definition of HP:0001894 (Thrombocytosis)\n", + " \n", + " \n", + " #Increased number of platelets in blood #Increased platelet count\n", + " definition of HP:0001894 (Thrombocytosis)\n", + " \n", + " \n", + " Retroperitoneal paraganglioma\n", + " definition of HP:0006729 (Retroperitoneal paraganglioma)\n", + " \n", + " \n", + " A paraganglioma (previously referred to as chemodectoma) located in the retroperitoneal space. Paragangliomas (also known as extra-adrenal pheochromocytomas) are rare tumors that arise from extra-adrenal chromaffin cells. Paragangliomas are characterized by secretions of excessive catecholamines, including epinephrine, norepinephrine and dopamine, which may lead to clinical symptoms, including episodic hypertension, tachycardia and diaphoresis. However, between 40 and 50% of paragangliomas are non-functional.\n", + " definition of HP:0006729 (Retroperitoneal paraganglioma)\n", + " \n", + " \n", + " #Retroperitoneal chemodectoma\n", + " definition of HP:0006729 (Retroperitoneal paraganglioma)\n", + " \n", + " \n", + " Anti-topoisomerase I antibody positivity\n", + " definition of HP:0030859 (Anti-topoisomerase I antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against topoisomerase I.\n", + " definition of HP:0030859 (Anti-topoisomerase I antibody positivity)\n", + " \n", + " \n", + " #Anti-Scl-70 antibody positivity #Top1 antibody positivity #Topoisomerase (DNA) I antibody positivity\n", + " definition of HP:0030859 (Anti-topoisomerase I antibody positivity)\n", + " \n", + " \n", + " Anomalous insertion of papillary muscle directly into anterior mitral leaflet\n", + " definition of HP:0025446 (Anomalous insertion of papillary muscle directly into anterior mitral leaflet)\n", + " \n", + " \n", + " A congenital malformation in which one or both of the papillary muscles (posteromedial or anterolateral) insert directly (that is, without interpositioned chordae tendineae) into the anterior mitral leaflet.\n", + " definition of HP:0025446 (Anomalous insertion of papillary muscle directly into anterior mitral leaflet)\n", + " \n", + " \n", + " Cardiac rhabdoid tumor\n", + " definition of HP:0034559 (Cardiac rhabdoid tumor)\n", + " \n", + " \n", + " A rare and aggressive neoplasms developing mainly in the kidney but also in cerebral and extra-cerebral tissues and rarely in the heart. Histologically, rhabdoid renal and extrarenal tumors share common characteristics. The cells are polygonal, with eccentric, vesicular nuclei and prominent nucleoli, eosinophilic cytoplasmic inclusions. The tumors have an infiltrative growth pattern, necrosis, and high proliferative index. The immunohistochemistry tools of investigation facilitate differential diagnosis by showing loss of INI-1 expression, usually accompanied by germline mutations of the SMARCB1 gene. When INI-1 is still expressed in the affected tissues, a rhabdoid tumor with SMARCA4 mutations should be considered.\n", + " definition of HP:0034559 (Cardiac rhabdoid tumor)\n", + " \n", + " \n", + " Purulent drainage from Stensen duct\n", + " definition of HP:6000178 (Purulent drainage from Stensen duct)\n", + " \n", + " \n", + " Flow of pus (purulence) from the Stensen duct. The Stensen duct is also known as the parotid duct and is the route that saliva takes from the major salivary gland (parotid gland) to the mouth.\n", + " definition of HP:6000178 (Purulent drainage from Stensen duct)\n", + " \n", + " \n", + " Sertoli cell hyperplasia\n", + " definition of HP:0034746 (Sertoli cell hyperplasia)\n", + " \n", + " \n", + " Abnormal increase in the number of Sertoli cells in the testis.\n", + " definition of HP:0034746 (Sertoli cell hyperplasia)\n", + " \n", + " \n", + " Tessier number 3 facial cleft\n", + " definition of HP:0031575 (Tessier number 3 facial cleft)\n", + " \n", + " \n", + " As in the Number 1 and Number 2 clefts, this cleft extends through the lip in the region of the typical cleft lip; however, it does not extend through the base. The cleft continues superiorly to involve the inner canthus and lower eyelid medial to the inferior lacrimal punctum, thereby disrupting the nasolacrimal system. Microphthalmia may be present. The alveolar cleft is between the lateral incisor and the canine. Absent septation between the nasal cavity and maxillary antrum, together with the distortion of the frontal process of the maxilla and lacrimal fossa, produces direct communication between the orbit, maxillary sinus, and nose. There is hypoplasia of the soft tissue margins of the cleft in the vertical dimension. This produces extreme soft tissue deficiency between the alar base and the cleft of the medial aspect of the lower eyelid. The inferior lacrimal punctum is evident at the lateral margin of the lower eyelid cleft. The lacrimal drainage system ends as an opening directly onto the cheek without communication into the nasal cavity. The globe is normal in size, but it is displaced inferiorly and laterally. The nasal septum shows the characteristic distortion seen in typical cleft lip and palate. There is absence of septation between the nasal cavity on the cleft side and the maxilla. The maxilla is hypoplastic in three dimensions, with a marked reduction in pneumatization. Superior extension of the skeletal clefting into the medial portion of the orbital floor and into the inferior orbital rim in the region of the frontal process of the maxilla allows direct communication between the orbit above and the nasomaxillary region below. There is mild narrowing of the ethmoid sinus and of the body of the sphenoid on the cleft side. The pterygoid process appears anatomically normal, but less displaced from the midline compared with that of the noncleft side. Both the orbit and the floor of the anterior cranial fossa are inferiorly displaced.\n", + " definition of HP:0031575 (Tessier number 3 facial cleft)\n", + " \n", + " \n", + " Blurred vision\n", + " definition of HP:0000622 (Blurred vision)\n", + " \n", + " \n", + " Lack of sharpness of vision resulting in the inability to see fine detail.\n", + " definition of HP:0000622 (Blurred vision)\n", + " \n", + " \n", + " #Blurred vision\n", + " definition of HP:0000622 (Blurred vision)\n", + " \n", + " \n", + " Decreased hepatic echogenicity\n", + " definition of HP:0031143 (Decreased hepatic echogenicity)\n", + " \n", + " \n", + " Reduced echogenicity of liver tissue on sonography, manifested as an increased amount of black on the screen of the sonography device.\n", + " definition of HP:0031143 (Decreased hepatic echogenicity)\n", + " \n", + " \n", + " #Hypoechogenic liver\n", + " definition of HP:0031143 (Decreased hepatic echogenicity)\n", + " \n", + " \n", + " Abnormal CD4:CD8 ratio\n", + " definition of HP:0031394 (Abnormal CD4:CD8 ratio)\n", + " \n", + " \n", + " Any abnormality in the relative amount of CD4+ and CD8+ T lymphocytes.\n", + " definition of HP:0031394 (Abnormal CD4:CD8 ratio)\n", + " \n", + " \n", + " Short 2nd metacarpal\n", + " definition of HP:0010038 (Short 2nd metacarpal)\n", + " \n", + " \n", + " Short second metacarpal bone because of developmental hypoplasia.\n", + " definition of HP:0010038 (Short 2nd metacarpal)\n", + " \n", + " \n", + " #Rudimentary 2nd metacarpal #Shortened 2nd long bone of hand\n", + " definition of HP:0010038 (Short 2nd metacarpal)\n", + " \n", + " \n", + " Ankle clonus\n", + " definition of HP:0011448 (Ankle clonus)\n", + " \n", + " \n", + " Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward.\n", + " definition of HP:0011448 (Ankle clonus)\n", + " \n", + " \n", + " #Abnormal rhythmic movements of ankle\n", + " definition of HP:0011448 (Ankle clonus)\n", + " \n", + " \n", + " Abnormality of exocrine pancreas physiology\n", + " definition of HP:0012092 (Abnormality of exocrine pancreas physiology)\n", + " \n", + " \n", + " A functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes.\n", + " definition of HP:0012092 (Abnormality of exocrine pancreas physiology)\n", + " \n", + " \n", + " #Abnormal exocrine pancreatic function\n", + " definition of HP:0012092 (Abnormality of exocrine pancreas physiology)\n", + " \n", + " \n", + " Increased proportion of CD25+ mast cells\n", + " definition of HP:0031408 (Increased proportion of CD25+ mast cells)\n", + " \n", + " \n", + " An increased proportion of mast cells are positive for the cell surface marker CD25 (also called interleukin-2 receptor alpha chain).\n", + " definition of HP:0031408 (Increased proportion of CD25+ mast cells)\n", + " \n", + " \n", + " Experiential epileptic aura\n", + " definition of HP:0012002 (Experiential epileptic aura)\n", + " \n", + " \n", + " Affective, mnemonic or composite perceptual auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context.\n", + " definition of HP:0012002 (Experiential epileptic aura)\n", + " \n", + " \n", + " #Experiential aura #Experiential auras\n", + " definition of HP:0012002 (Experiential epileptic aura)\n", + " \n", + " \n", + " Absent primary metaphyseal spongiosa\n", + " definition of HP:0003332 (Absent primary metaphyseal spongiosa)\n", + " \n", + " \n", + " Choanal stenosis\n", + " definition of HP:0000452 (Choanal stenosis)\n", + " \n", + " \n", + " Abnormal narrowing of the choana (the posterior nasal aperture).\n", + " definition of HP:0000452 (Choanal stenosis)\n", + " \n", + " \n", + " #Coanal stenosis #Narrowing of the rear opening of the nasal cavity\n", + " definition of HP:0000452 (Choanal stenosis)\n", + " \n", + " \n", + " Appendicular spasticity\n", + " definition of HP:0034353 (Appendicular spasticity)\n", + " \n", + " \n", + " A type of spasticity that affects one or more limbs (arms or legs).\n", + " definition of HP:0034353 (Appendicular spasticity)\n", + " \n", + " \n", + " #Extremity spasticity #Limb spasticity #Spastic extremities #Spastic limb #Spastic limbs #Spasticity of extremities #Spasticity of extremity #Spasticity of limbs\n", + " definition of HP:0034353 (Appendicular spasticity)\n", + " \n", + " \n", + " Elevated circulating alpha-oxoadipic acid concentration\n", + " definition of HP:0034736 (Elevated circulating alpha-oxoadipic acid concentration)\n", + " \n", + " \n", + " Concentration of alpha-oxoadipic acid in the blood above the upper limit of normal.\n", + " definition of HP:0034736 (Elevated circulating alpha-oxoadipic acid concentration)\n", + " \n", + " \n", + " #Alpha-oxoadipic acid high in blood\n", + " definition of HP:0034736 (Elevated circulating alpha-oxoadipic acid concentration)\n", + " \n", + " \n", + " Abnormal gastrointestinal tract morphology\n", + " definition of HP:0012718 (Abnormal gastrointestinal tract morphology)\n", + " \n", + " \n", + " Abnormal structure of the gastrointestinal tract.\n", + " definition of HP:0012718 (Abnormal gastrointestinal tract morphology)\n", + " \n", + " \n", + " #Abnormal shape of the digestive system #Morphological abnormality of the gastrointestinal tract #Morphological abnormality of the GI tract #Morphological anomaly of the digestive system\n", + " definition of HP:0012718 (Abnormal gastrointestinal tract morphology)\n", + " \n", + " \n", + " Pancreatic aplasia\n", + " definition of HP:0100801 (Pancreatic aplasia)\n", + " \n", + " \n", + " Aplasia of the pancreas.\n", + " definition of HP:0100801 (Pancreatic aplasia)\n", + " \n", + " \n", + " #Absent pancreas\n", + " definition of HP:0100801 (Pancreatic aplasia)\n", + " \n", + " \n", + " Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis\n", + " definition of HP:0011651 (Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis)\n", + " \n", + " \n", + " A double outlet right ventricle with a subaortic ventricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.\n", + " definition of HP:0011651 (Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis)\n", + " \n", + " \n", + " #DORV with doubly committed VSD and pulmonary stenosis\n", + " definition of HP:0011651 (Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis)\n", + " \n", + " \n", + " Talipes\n", + " definition of HP:0001883 (Talipes)\n", + " \n", + " \n", + " A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus.\n", + " definition of HP:0001883 (Talipes)\n", + " \n", + " \n", + " Elevated urinary adipic acid\n", + " definition of HP:6001114 (Elevated urinary adipic acid)\n", + " \n", + " \n", + " The amount of adipic acid in the urine, normalized for urine concentration, is above the upper limit of normal. Adipic acid is an alpha,omega-dicarboxylic acid that is the 1,4-dicarboxy derivative of butane.\n", + " definition of HP:6001114 (Elevated urinary adipic acid)\n", + " \n", + " \n", + " Prolinuria\n", + " definition of HP:0003137 (Prolinuria)\n", + " \n", + " \n", + " Level of proline in the urine anove the upper limit of normal.\n", + " definition of HP:0003137 (Prolinuria)\n", + " \n", + " \n", + " #Proline high in urine\n", + " definition of HP:0003137 (Prolinuria)\n", + " \n", + " \n", + " Hypokalemic hypochloremic metabolic alkalosis\n", + " definition of HP:0004909 (Hypokalemic hypochloremic metabolic alkalosis)\n", + " \n", + " \n", + " Madelung deformity\n", + " definition of HP:0003067 (Madelung deformity)\n", + " \n", + " \n", + " An anomaly related to partial closure, or failure of development of the ulnar side of the distal radial growth plate, which results in an arrest of epiphyseal growth of the medial and volar portions of the distal radius. This leads to shortening of the radius and relative overgrowth of the ulna.\n", + " definition of HP:0003067 (Madelung deformity)\n", + " \n", + " \n", + " #Madelung wrist deformity\n", + " definition of HP:0003067 (Madelung deformity)\n", + " \n", + " \n", + " Renal cyst\n", + " definition of HP:0000107 (Renal cyst)\n", + " \n", + " \n", + " A fluid filled sac in the kidney.\n", + " definition of HP:0000107 (Renal cyst)\n", + " \n", + " \n", + " #Kidney cyst\n", + " definition of HP:0000107 (Renal cyst)\n", + " \n", + " \n", + " Abnormal lingual nerve morphology\n", + " definition of HP:3000075 (Abnormal lingual nerve morphology)\n", + " \n", + " \n", + " Any structural anomaly of a lingual nerve.\n", + " definition of HP:3000075 (Abnormal lingual nerve morphology)\n", + " \n", + " \n", + " #Abnormality of lingual nerve\n", + " definition of HP:3000075 (Abnormal lingual nerve morphology)\n", + " \n", + " \n", + " Aqueductal stenosis\n", + " definition of HP:0002410 (Aqueductal stenosis)\n", + " \n", + " \n", + " Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum.\n", + " definition of HP:0002410 (Aqueductal stenosis)\n", + " \n", + " \n", + " #Aqueduct of Sylvius stenosis #Aqueduct stenosis #Narrowing of aqueduct of Sylvius\n", + " definition of HP:0002410 (Aqueductal stenosis)\n", + " \n", + " \n", + " Telangiectasia of the skin\n", + " definition of HP:0100585 (Telangiectasia of the skin)\n", + " \n", + " \n", + " Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions.\n", + " definition of HP:0100585 (Telangiectasia of the skin)\n", + " \n", + " \n", + " #Teleangiectasia of the skin\n", + " definition of HP:0100585 (Telangiectasia of the skin)\n", + " \n", + " \n", + " Leakage of dye on fundus fluorescein angiography\n", + " definition of HP:0025320 (Leakage of dye on fundus fluorescein angiography)\n", + " \n", + " \n", + " Leakage of fluorescein dye observed upon retinal fluorescein angiography. Areas of leakage can be appreciated as showing gradual enlargement with blurring of margins.\n", + " definition of HP:0025320 (Leakage of dye on fundus fluorescein angiography)\n", + " \n", + " \n", + " #Fluorescein leakage\n", + " definition of HP:0025320 (Leakage of dye on fundus fluorescein angiography)\n", + " \n", + " \n", + " Irregular epiphysis of the 1st metatarsal\n", + " definition of HP:0010154 (Irregular epiphysis of the 1st metatarsal)\n", + " \n", + " \n", + " #Irregular end part of the 1st long bone of foot\n", + " definition of HP:0010154 (Irregular epiphysis of the 1st metatarsal)\n", + " \n", + " \n", + " HbS hemoglobin\n", + " definition of HP:0045047 (HbS hemoglobin)\n", + " \n", + " \n", + " Presence of an abnormal type of hemoglobin characterized by the substitution of a glutamic acid residue at position 7 following the initial methionine residue by a valine (the mutation causative of sickle cell disease). The mutation promotes the polymerization of the HbS under conditions of low oxygen concentration. HbS can be identified by multiple methodologies including hemoglobin electrophoresis and high-performance liquid chromatography.\n", + " definition of HP:0045047 (HbS hemoglobin)\n", + " \n", + " \n", + " #HbS haemoglobin\n", + " definition of HP:0045047 (HbS hemoglobin)\n", + " \n", + " \n", + " Abnormal fibula morphology\n", + " definition of HP:0002991 (Abnormal fibula morphology)\n", + " \n", + " \n", + " An anomaly of the calf bone (fibula), one of the two bones of the calf.\n", + " definition of HP:0002991 (Abnormal fibula morphology)\n", + " \n", + " \n", + " #Abnormality of fibula morphology #Abnormality of the calf bone\n", + " definition of HP:0002991 (Abnormal fibula morphology)\n", + " \n", + " \n", + " Discoid lupus rash\n", + " definition of HP:0007417 (Discoid lupus rash)\n", + " \n", + " \n", + " Cutaneous lesion that develops as a dry, scaly, red patch that evolves to an indurated and hyperpigmented plaque with adherent scale. Scarring may result in central white patches (loss of pigmentation) and skin atrophy.\n", + " definition of HP:0007417 (Discoid lupus rash)\n", + " \n", + " \n", + " #Discoid lupus erythematosus\n", + " definition of HP:0007417 (Discoid lupus rash)\n", + " \n", + " \n", + " Diffuse swelling of cerebral white matter\n", + " definition of HP:0007341 (Diffuse swelling of cerebral white matter)\n", + " \n", + " \n", + " Abnormality of extrapyramidal motor function\n", + " definition of HP:0002071 (Abnormality of extrapyramidal motor function)\n", + " \n", + " \n", + " A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).\n", + " definition of HP:0002071 (Abnormality of extrapyramidal motor function)\n", + " \n", + " \n", + " #Extrapyramidal dysfunction #Extrapyramidal signs #Extrapyramidal symptoms #Extrapyramidal syndrome #Extrapyramidal tract signs\n", + " definition of HP:0002071 (Abnormality of extrapyramidal motor function)\n", + " \n", + " \n", + " Reduced erythrocyte porphobilinogen deaminase activity\n", + " definition of HP:4000199 (Reduced erythrocyte porphobilinogen deaminase activity)\n", + " \n", + " \n", + " Activity or concentration of in the level of porphobilinogen deaminase (EC 4.3.1.8) in erythrocytes below the lower limit of normal.\n", + " definition of HP:4000199 (Reduced erythrocyte porphobilinogen deaminase activity)\n", + " \n", + " \n", + " Abnormal suspensory ligament of lens morphology\n", + " definition of HP:0012628 (Abnormal suspensory ligament of lens morphology)\n", + " \n", + " \n", + " An anomaly of the suspensory ligament of lens, also known as the ciliary zonule. These ligaments represent a series of fibers connecting the ciliary body and lens of the eye, holding the lens in place.\n", + " definition of HP:0012628 (Abnormal suspensory ligament of lens morphology)\n", + " \n", + " \n", + " #Abnormality of the suspensory ligament of lens #Abnormality of zinn's membrane #Ciliary zonule abnormality #Zonule of zinn abnormality\n", + " definition of HP:0012628 (Abnormal suspensory ligament of lens morphology)\n", + " \n", + " \n", + " Champagne cork sign\n", + " definition of HP:0034226 (Champagne cork sign)\n", + " \n", + " \n", + " Characteristic appearance of the chest and abdomen in the sagittal view on prenatal ultrasound when the chest is small and the abdomen protruding.\n", + " definition of HP:0034226 (Champagne cork sign)\n", + " \n", + " \n", + " Wide tufts of distal phalanges\n", + " definition of HP:0006095 (Wide tufts of distal phalanges)\n", + " \n", + " \n", + " #Wide tips of outermost digital bone\n", + " definition of HP:0006095 (Wide tufts of distal phalanges)\n", + " \n", + " \n", + " Fetal neck anomaly\n", + " definition of HP:0025667 (Fetal neck anomaly)\n", + " \n", + " \n", + " A structural anomaly in the fetal neck region. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.\n", + " definition of HP:0025667 (Fetal neck anomaly)\n", + " \n", + " \n", + " Abnormal Intonation\n", + " definition of HP:5200010 (Abnormal Intonation)\n", + " \n", + " \n", + " Abnormal rise and fall of the voice in speech and vocalization for the context and cultural situation.\n", + " definition of HP:5200010 (Abnormal Intonation)\n", + " \n", + " \n", + " Absent middle phalanx of the 3rd toe\n", + " definition of HP:0100381 (Absent middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " Developmental aplasia of the middle phalanx of third toe.\n", + " definition of HP:0100381 (Absent middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Absent middle bone of the 3rd toe #Absent middle phalanx of the third toe #Aplasia of the middle phalanx of the 3rd toe\n", + " definition of HP:0100381 (Absent middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " Venous varicosities of celiac and mesenteric vessels\n", + " definition of HP:0002626 (Venous varicosities of celiac and mesenteric vessels)\n", + " \n", + " \n", + " Elongated and tortuous mesenteric veins, which comprise the inferior mesenteric vein and the superior mesenteric vein.\n", + " definition of HP:0002626 (Venous varicosities of celiac and mesenteric vessels)\n", + " \n", + " \n", + " #Venous varicosities of coeliac and mesenteric vessels\n", + " definition of HP:0002626 (Venous varicosities of celiac and mesenteric vessels)\n", + " \n", + " \n", + " Septate vagina\n", + " definition of HP:0001153 (Septate vagina)\n", + " \n", + " \n", + " The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases.\n", + " definition of HP:0001153 (Septate vagina)\n", + " \n", + " \n", + " #Double vagina\n", + " definition of HP:0001153 (Septate vagina)\n", + " \n", + " \n", + " Ivory epiphysis of the distal phalanx of the 2nd finger\n", + " definition of HP:0009508 (Ivory epiphysis of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Sclerosis of the epiphysis of the distal phalanx of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.\n", + " definition of HP:0009508 (Ivory epiphysis of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Increased bone density of end part of the outermost bone of the index finger #Ivory epiphysis of terminal index finger phalanx\n", + " definition of HP:0009508 (Ivory epiphysis of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Increased fecal heptacarboxylporphyrin\n", + " definition of HP:0034473 (Increased fecal heptacarboxylporphyrin)\n", + " \n", + " \n", + " Abnormally high concentration of heptacarboxylporphyrin in feces.\n", + " definition of HP:0034473 (Increased fecal heptacarboxylporphyrin)\n", + " \n", + " \n", + " #Heptacarboxylporphyrin high in stool\n", + " definition of HP:0034473 (Increased fecal heptacarboxylporphyrin)\n", + " \n", + " \n", + " Low intestinal alkaline phosphatase\n", + " definition of HP:0010687 (Low intestinal alkaline phosphatase)\n", + " \n", + " \n", + " An abnormally reduced level of alkaline phosphatase, intestinal type in the blood.\n", + " definition of HP:0010687 (Low intestinal alkaline phosphatase)\n", + " \n", + " \n", + " #Low intestinal ALP\n", + " definition of HP:0010687 (Low intestinal alkaline phosphatase)\n", + " \n", + " \n", + " Increased neuronal autofluorescent lipopigment\n", + " definition of HP:0002074 (Increased neuronal autofluorescent lipopigment)\n", + " \n", + " \n", + " Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the neuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.\n", + " definition of HP:0002074 (Increased neuronal autofluorescent lipopigment)\n", + " \n", + " \n", + " Abnormal limb epiphysis morphology\n", + " definition of HP:0006505 (Abnormal limb epiphysis morphology)\n", + " \n", + " \n", + " An anomaly of one or more epiphyses of a limb.\n", + " definition of HP:0006505 (Abnormal limb epiphysis morphology)\n", + " \n", + " \n", + " #Abnormal shape of end part of limb bones #Abnormality involving the epiphyses of the limbs #Abnormality of limb epiphysis morphology\n", + " definition of HP:0006505 (Abnormal limb epiphysis morphology)\n", + " \n", + " \n", + " 10-minute APGAR score of 1\n", + " definition of HP:0033469 (10-minute APGAR score of 1)\n", + " \n", + " \n", + " Decreased urinary metaepinephrine level\n", + " definition of HP:0034876 (Decreased urinary metaepinephrine level)\n", + " \n", + " \n", + " The concentration of metanephrine in the urine, normalized for urine concentration, is below the lower limit of normal.\n", + " definition of HP:0034876 (Decreased urinary metaepinephrine level)\n", + " \n", + " \n", + " Focal aware motor seizure with dystonia\n", + " definition of HP:0032723 (Focal aware motor seizure with dystonia)\n", + " \n", + " \n", + " A focal motor seizure with dystonia characterized by retained awareness throughout the seizure.\n", + " definition of HP:0032723 (Focal aware motor seizure with dystonia)\n", + " \n", + " \n", + " #Focal motor aware seizure with dystonia\n", + " definition of HP:0032723 (Focal aware motor seizure with dystonia)\n", + " \n", + " \n", + " Corneal transplant history\n", + " definition of HP:6000096 (Corneal transplant history)\n", + " \n", + " \n", + " Past medical history of surgical replacement of the cornea with corneal tissue from a donor.\n", + " definition of HP:6000096 (Corneal transplant history)\n", + " \n", + " \n", + " #History of corneal transplantation\n", + " definition of HP:6000096 (Corneal transplant history)\n", + " \n", + " \n", + " X-linked dominant inheritance\n", + " definition of HP:0001423 (X-linked dominant inheritance)\n", + " \n", + " \n", + " A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.\n", + " definition of HP:0001423 (X-linked dominant inheritance)\n", + " \n", + " \n", + " #X-linked dominant\n", + " definition of HP:0001423 (X-linked dominant inheritance)\n", + " \n", + " \n", + " Anaphylactic shock\n", + " definition of HP:0100845 (Anaphylactic shock)\n", + " \n", + " \n", + " An acute hypersensitivity reaction due to exposure to a previously encountered antigen.\n", + " definition of HP:0100845 (Anaphylactic shock)\n", + " \n", + " \n", + " #Anaphylaxis\n", + " definition of HP:0100845 (Anaphylactic shock)\n", + " \n", + " \n", + " Lumbar spinal canal stenosis\n", + " definition of HP:0004610 (Lumbar spinal canal stenosis)\n", + " \n", + " \n", + " An abnormal narrowing of the lumbar spinal canal.\n", + " definition of HP:0004610 (Lumbar spinal canal stenosis)\n", + " \n", + " \n", + " #Lumbar spinal stenosis #Narrow lumbar spinal canal\n", + " definition of HP:0004610 (Lumbar spinal canal stenosis)\n", + " \n", + " \n", + " Abnormality of central nervous system electrophysiology\n", + " definition of HP:0030178 (Abnormality of central nervous system electrophysiology)\n", + " \n", + " \n", + " #Abnormality of CNS electrophysiology\n", + " definition of HP:0030178 (Abnormality of central nervous system electrophysiology)\n", + " \n", + " \n", + " Tubulointerstitial microganismal infiltration\n", + " definition of HP:0032635 (Tubulointerstitial microganismal infiltration)\n", + " \n", + " \n", + " Infiltration of microorganisms into renal tubulointerstitial tissues as observed by appropriate staining procedures, e.g., bacteria on a bacterial stain (Brown and Hopps) or fungi on PAS or silver stain.\n", + " definition of HP:0032635 (Tubulointerstitial microganismal infiltration)\n", + " \n", + " \n", + " Increased sarcoplasmic glycogen\n", + " definition of HP:0030232 (Increased sarcoplasmic glycogen)\n", + " \n", + " \n", + " Elevated glycogen content in the sarcoplasm (cytoplasm) of muscle fibers.\n", + " definition of HP:0030232 (Increased sarcoplasmic glycogen)\n", + " \n", + " \n", + " Ivory epiphysis of the middle phalanx of the 4th finger\n", + " definition of HP:0009220 (Ivory epiphysis of the middle phalanx of the 4th finger)\n", + " \n", + " \n", + " Sclerosis of the epiphysis of the middle phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.\n", + " definition of HP:0009220 (Ivory epiphysis of the middle phalanx of the 4th finger)\n", + " \n", + " \n", + " #Increased bone density of end part of the middle ring finger bone\n", + " definition of HP:0009220 (Ivory epiphysis of the middle phalanx of the 4th finger)\n", + " \n", + " \n", + " Renal tubular cytomegalovirus inclusions\n", + " definition of HP:0032953 (Renal tubular cytomegalovirus inclusions)\n", + " \n", + " \n", + " Characteristic intranuclear glassy-appearing basophilic inclusions with surrounding halo (owl's eye-type inclusion) and marked increase in the size of the cell (cytomegaly), particularly in tubular epithelial cells and in endothelial cells. Often accompanied by cytopathic changes including patchy interstitial pleomorphic infiltrate with lymphocytes, plasma cells, and macrophages.\n", + " definition of HP:0032953 (Renal tubular cytomegalovirus inclusions)\n", + " \n", + " \n", + " Abnormality of macular pigmentation\n", + " definition of HP:0008002 (Abnormality of macular pigmentation)\n", + " \n", + " \n", + " Abnormality of macular or foveal pigmentation.\n", + " definition of HP:0008002 (Abnormality of macular pigmentation)\n", + " \n", + " \n", + " Pseudoepiphyses of the proximal phalanges of the hand\n", + " definition of HP:0010275 (Pseudoepiphyses of the proximal phalanges of the hand)\n", + " \n", + " \n", + " A secondary ossification center in the proximal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.\n", + " definition of HP:0010275 (Pseudoepiphyses of the proximal phalanges of the hand)\n", + " \n", + " \n", + " Decreased urinary potassium\n", + " definition of HP:0012364 (Decreased urinary potassium)\n", + " \n", + " \n", + " A decreased concentration of potassium(1+) in the urine.\n", + " definition of HP:0012364 (Decreased urinary potassium)\n", + " \n", + " \n", + " #Decreased urinary K #Hypokaliuria #Hypokaluria #Low urine potassium levels\n", + " definition of HP:0012364 (Decreased urinary potassium)\n", + " \n", + " \n", + " Peripheral pulmonary vessel aplasia\n", + " definition of HP:0005316 (Peripheral pulmonary vessel aplasia)\n", + " \n", + " \n", + " Abnormal nervous system electrophysiology\n", + " definition of HP:0001311 (Abnormal nervous system electrophysiology)\n", + " \n", + " \n", + " An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations.\n", + " definition of HP:0001311 (Abnormal nervous system electrophysiology)\n", + " \n", + " \n", + " #Neurophysiologic abnormalities #Neurophysiologic abnormality\n", + " definition of HP:0001311 (Abnormal nervous system electrophysiology)\n", + " \n", + " \n", + " Congenital stapes ankylosis\n", + " definition of HP:0007943 (Congenital stapes ankylosis)\n", + " \n", + " \n", + " A form of stapes ankylosis with congenital onset.\n", + " definition of HP:0007943 (Congenital stapes ankylosis)\n", + " \n", + " \n", + " Ectopic fovea\n", + " definition of HP:0025007 (Ectopic fovea)\n", + " \n", + " \n", + " An abnormal anatomic position of the fovea, the small, central pit composed of closely packed cones that is located in the macula of the retina.\n", + " definition of HP:0025007 (Ectopic fovea)\n", + " \n", + " \n", + " Cutaneous horn\n", + " definition of HP:0033510 (Cutaneous horn)\n", + " \n", + " \n", + " A cutaneous horn is a keratinized non-malignant protrusion on the surface of the skin. Diagnosis is established by biopsy of the horn and biopsy of the horn and the underlying skin.\n", + " definition of HP:0033510 (Cutaneous horn)\n", + " \n", + " \n", + " #Cornu cutaneum\n", + " definition of HP:0033510 (Cutaneous horn)\n", + " \n", + " \n", + " Triggered by head trauma\n", + " definition of HP:0500260 (Triggered by head trauma)\n", + " \n", + " \n", + " Applies to a sign or symptom that is provoked or brought about by exposure to a head trauma.\n", + " definition of HP:0500260 (Triggered by head trauma)\n", + " \n", + " \n", + " #Head trauma triggered symptoms\n", + " definition of HP:0500260 (Triggered by head trauma)\n", + " \n", + " \n", + " Increased proportion of class-switched memory B cells\n", + " definition of HP:0030387 (Increased proportion of class-switched memory B cells)\n", + " \n", + " \n", + " An increase in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA.\n", + " definition of HP:0030387 (Increased proportion of class-switched memory B cells)\n", + " \n", + " \n", + " #Increased proportion of CD19+CD27+IgD- cells\n", + " definition of HP:0030387 (Increased proportion of class-switched memory B cells)\n", + " \n", + " \n", + " Thalamic hemorrhage\n", + " definition of HP:0025064 (Thalamic hemorrhage)\n", + " \n", + " \n", + " Bleeding in the thalamus.\n", + " definition of HP:0025064 (Thalamic hemorrhage)\n", + " \n", + " \n", + " #Thalamic hemorrhage\n", + " definition of HP:0025064 (Thalamic hemorrhage)\n", + " \n", + " \n", + " Bulging of the costochondral junction\n", + " definition of HP:0000893 (Bulging of the costochondral junction)\n", + " \n", + " \n", + " Abnormal outward curving (protuberance) of the junction of ribs and costal cartilage.\n", + " definition of HP:0000893 (Bulging of the costochondral junction)\n", + " \n", + " \n", + " Tics\n", + " definition of HP:0100033 (Tics)\n", + " \n", + " \n", + " Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppressible and are usually associated with awareness of an urge to perform the movement.\n", + " definition of HP:0100033 (Tics)\n", + " \n", + " \n", + " #Tic disorder\n", + " definition of HP:0100033 (Tics)\n", + " \n", + " \n", + " Synostosis of second metacarpal-trapezoid\n", + " definition of HP:0004293 (Synostosis of second metacarpal-trapezoid)\n", + " \n", + " \n", + " Fusion of the second metacarpal-trapezoid.\n", + " definition of HP:0004293 (Synostosis of second metacarpal-trapezoid)\n", + " \n", + " \n", + " #Fusion of second metacarpal-trapezoid\n", + " definition of HP:0004293 (Synostosis of second metacarpal-trapezoid)\n", + " \n", + " \n", + " Broad proximal phalanx of the thumb\n", + " definition of HP:0009630 (Broad proximal phalanx of the thumb)\n", + " \n", + " \n", + " Increased width of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.\n", + " definition of HP:0009630 (Broad proximal phalanx of the thumb)\n", + " \n", + " \n", + " #Broad innermost thumb bone\n", + " definition of HP:0009630 (Broad proximal phalanx of the thumb)\n", + " \n", + " \n", + " Complete duplication of the phalanges of the 5th finger\n", + " definition of HP:0009986 (Complete duplication of the phalanges of the 5th finger)\n", + " \n", + " \n", + " A complete duplication affecting one or more of the phalanges of the 5th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.\n", + " definition of HP:0009986 (Complete duplication of the phalanges of the 5th finger)\n", + " \n", + " \n", + " #Complete duplication of the little finger bone #Complete duplication of the pinkie finger bone #Complete duplication of the pinky finger bone\n", + " definition of HP:0009986 (Complete duplication of the phalanges of the 5th finger)\n", + " \n", + " \n", + " Overlapping toe\n", + " definition of HP:0001845 (Overlapping toe)\n", + " \n", + " \n", + " Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest. Initially clawing may be dynamic and only noticeable on walking. Over time the plantar plate tears, subluxation occurs at the metatarsophalangeal joint (MTPJ), and the deformity becomes permanent.\n", + " definition of HP:0001845 (Overlapping toe)\n", + " \n", + " \n", + " #Overlapping toe #Overlapping toes #Overriding toes\n", + " definition of HP:0001845 (Overlapping toe)\n", + " \n", + " \n", + " Spasticity\n", + " definition of HP:0001257 (Spasticity)\n", + " \n", + " \n", + " A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.\n", + " definition of HP:0001257 (Spasticity)\n", + " \n", + " \n", + " #Involuntary muscle stiffness, contraction, or spasm #Muscle spasticity #Muscular spasticity\n", + " definition of HP:0001257 (Spasticity)\n", + " \n", + " \n", + " Bile duct proliferation\n", + " definition of HP:0001408 (Bile duct proliferation)\n", + " \n", + " \n", + " Proliferative changes of the bile ducts.\n", + " definition of HP:0001408 (Bile duct proliferation)\n", + " \n", + " \n", + " #Proliferation of bile canaliculi\n", + " definition of HP:0001408 (Bile duct proliferation)\n", + " \n", + " \n", + " Reduced visual accommodation\n", + " definition of HP:0030801 (Reduced visual accommodation)\n", + " \n", + " \n", + " A decreased ability of the eye to adjust and thereby enable sharp vision of objects at different distances.\n", + " definition of HP:0030801 (Reduced visual accommodation)\n", + " \n", + " \n", + " Synotia\n", + " definition of HP:0100663 (Synotia)\n", + " \n", + " \n", + " A congenital malformation characterized by the union or approximation of the ears in front of the neck, often accompanied by the absence or defective development of the lower jaw.\n", + " definition of HP:0100663 (Synotia)\n", + " \n", + " \n", + " Lens luxation\n", + " definition of HP:0012019 (Lens luxation)\n", + " \n", + " \n", + " Complete dislocation of the lens of the eye.\n", + " definition of HP:0012019 (Lens luxation)\n", + " \n", + " \n", + " #Dislocated lens #Dislocated lenses\n", + " definition of HP:0012019 (Lens luxation)\n", + " \n", + " \n", + " Hypomagnesiuria\n", + " definition of HP:0012609 (Hypomagnesiuria)\n", + " \n", + " \n", + " An decreased concentration of magnesium the urine.\n", + " definition of HP:0012609 (Hypomagnesiuria)\n", + " \n", + " \n", + " #Decreased urine magnesium #Low urine magnesium levels\n", + " definition of HP:0012609 (Hypomagnesiuria)\n", + " \n", + " \n", + " Symmetric peripheral demyelination\n", + " definition of HP:0007262 (Symmetric peripheral demyelination)\n", + " \n", + " \n", + " A symmetric loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.\n", + " definition of HP:0007262 (Symmetric peripheral demyelination)\n", + " \n", + " \n", + " Absent internal genitalia\n", + " definition of HP:0008702 (Absent internal genitalia)\n", + " \n", + " \n", + " Abnormal glucose-6-phosphate dehydrogenase level in dried blood spot\n", + " definition of HP:0410180 (Abnormal glucose-6-phosphate dehydrogenase level in dried blood spot)\n", + " \n", + " \n", + " An anomaly in the level of glucose-6-phosphate dehydrogenase in a dried blood spot.\n", + " definition of HP:0410180 (Abnormal glucose-6-phosphate dehydrogenase level in dried blood spot)\n", + " \n", + " \n", + " #Abnormal G6PD level in dried blood spot #Abnormal glucose-6-phosphate dehydrogenase level in DBS\n", + " definition of HP:0410180 (Abnormal glucose-6-phosphate dehydrogenase level in dried blood spot)\n", + " \n", + " \n", + " Everted upper lip vermilion\n", + " definition of HP:0010803 (Everted upper lip vermilion)\n", + " \n", + " \n", + " Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an everted upper lip.\n", + " definition of HP:0010803 (Everted upper lip vermilion)\n", + " \n", + " \n", + " #Eclabium of upper lip #Everted prominent upper lip #Everted upper lip #Outward turned upper lip\n", + " definition of HP:0010803 (Everted upper lip vermilion)\n", + " \n", + " \n", + " Fava bean-induced hemolytic anemia\n", + " definition of HP:0004814 (Fava bean-induced hemolytic anemia)\n", + " \n", + " \n", + " A kind of hemolytic anemia that is induced by the ingestion of fava beans.\n", + " definition of HP:0004814 (Fava bean-induced hemolytic anemia)\n", + " \n", + " \n", + " #Fava bean-induced hemolytic anaemia #Hemolytic anaemia following ingestion of fava beans #Hemolytic anemia following ingestion of fava beans\n", + " definition of HP:0004814 (Fava bean-induced hemolytic anemia)\n", + " \n", + " \n", + " Dilatation of the bladder\n", + " definition of HP:0010955 (Dilatation of the bladder)\n", + " \n", + " \n", + " The presence of a dilated urinary bladder.\n", + " definition of HP:0010955 (Dilatation of the bladder)\n", + " \n", + " \n", + " Eating-induced seizure\n", + " definition of HP:0020208 (Eating-induced seizure)\n", + " \n", + " \n", + " A seizure precipitated by aspects of anticipating food, eating itself, or the post-prandial period.\n", + " definition of HP:0020208 (Eating-induced seizure)\n", + " \n", + " \n", + " Optic nerve glioma\n", + " definition of HP:0009734 (Optic nerve glioma)\n", + " \n", + " \n", + " A glioma originating in the optic nerve or optic chiasm.\n", + " definition of HP:0009734 (Optic nerve glioma)\n", + " \n", + " \n", + " #Optic glioma\n", + " definition of HP:0009734 (Optic nerve glioma)\n", + " \n", + " \n", + " Contracture of the metatarsophalangeal joint of the 3rd toe\n", + " definition of HP:0100357 (Contracture of the metatarsophalangeal joint of the 3rd toe)\n", + " \n", + " \n", + " The joint between the third metatarsal and the proximal phalanx of the third toe cannot be straightened actively or passively.\n", + " definition of HP:0100357 (Contracture of the metatarsophalangeal joint of the 3rd toe)\n", + " \n", + " \n", + " Abnormal pulse pressure\n", + " definition of HP:0030850 (Abnormal pulse pressure)\n", + " \n", + " \n", + " An anomaly of the pulse pressure, which is defined as the systolic pressured minus the diastolic pressure.\n", + " definition of HP:0030850 (Abnormal pulse pressure)\n", + " \n", + " \n", + " Cervical polyp\n", + " definition of HP:0030159 (Cervical polyp)\n", + " \n", + " \n", + " Abnormal growth of tissue projecting from a mucous membrane of the endocervix.\n", + " definition of HP:0030159 (Cervical polyp)\n", + " \n", + " \n", + " #Cervical tumor #Cervical tumour\n", + " definition of HP:0030159 (Cervical polyp)\n", + " \n", + " \n", + " Posterolateral diaphragmatic hernia\n", + " definition of HP:0025193 (Posterolateral diaphragmatic hernia)\n", + " \n", + " \n", + " A posterolateral defect in the diaphragm, commonly referred to as a Bochdalek hernia, which is often accompanied by herniation of the stomach, intestines, liver, and/or spleen into the chest cavity.\n", + " definition of HP:0025193 (Posterolateral diaphragmatic hernia)\n", + " \n", + " \n", + " #Bochdalek hernia\n", + " definition of HP:0025193 (Posterolateral diaphragmatic hernia)\n", + " \n", + " \n", + " Hypoinsulinemia\n", + " definition of HP:0040216 (Hypoinsulinemia)\n", + " \n", + " \n", + " A decreased concentration of insulin in the blood.\n", + " definition of HP:0040216 (Hypoinsulinemia)\n", + " \n", + " \n", + " Broad middle phalanx of the 3rd toe\n", + " definition of HP:0100425 (Broad middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Broad middle 3rd toe bone\n", + " definition of HP:0100425 (Broad middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " Increased urine isobutyrylglycine concentration\n", + " definition of HP:0500257 (Increased urine isobutyrylglycine concentration)\n", + " \n", + " \n", + " Elevated concentration of isobutyrylglycine in the urine.\n", + " definition of HP:0500257 (Increased urine isobutyrylglycine concentration)\n", + " \n", + " \n", + " #High urinary isobutyrylglycine levels\n", + " definition of HP:0500257 (Increased urine isobutyrylglycine concentration)\n", + " \n", + " \n", + " Broad metatarsal\n", + " definition of HP:0001783 (Broad metatarsal)\n", + " \n", + " \n", + " Increased side-to-side width of a metatarsal bone.\n", + " definition of HP:0001783 (Broad metatarsal)\n", + " \n", + " \n", + " #Wide long bone of foot\n", + " definition of HP:0001783 (Broad metatarsal)\n", + " \n", + " \n", + " Lower-body predominance\n", + " definition of HP:0025291 (Lower-body predominance)\n", + " \n", + " \n", + " Applies to an abnormality that affects the legs more than the arms, trunk, head.\n", + " definition of HP:0025291 (Lower-body predominance)\n", + " \n", + " \n", + " Abnormality of palatopharyngeus muscle\n", + " definition of HP:3000012 (Abnormality of palatopharyngeus muscle)\n", + " \n", + " \n", + " An abnormality of a palatopharyngeus muscle.\n", + " definition of HP:3000012 (Abnormality of palatopharyngeus muscle)\n", + " \n", + " \n", + " Gastric volvulus\n", + " definition of HP:6000384 (Gastric volvulus)\n", + " \n", + " \n", + " A gastric volvulus occurs when the stomach rotates on itself at least 180 degrees along its transverse or longitudinal axis.\n", + " definition of HP:6000384 (Gastric volvulus)\n", + " \n", + " \n", + " Short tibia\n", + " definition of HP:0005736 (Short tibia)\n", + " \n", + " \n", + " Underdevelopment (reduced size) of the tibia.\n", + " definition of HP:0005736 (Short tibia)\n", + " \n", + " \n", + " #Hypoplasia of the tibia #Hypoplastic tibia #Short shinbone #Short skankbone #Short tibiae #Shortening of the shankbone #Shortening of the shinbone #Shortening of the tibia\n", + " definition of HP:0005736 (Short tibia)\n", + " \n", + " \n", + " Paraspinal arteriovenous malformation\n", + " definition of HP:6000592 (Paraspinal arteriovenous malformation)\n", + " \n", + " \n", + " An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in adjacent to the spine, i.e., in a location that is normally occupied by muscles, ligaments, nerves, and other tissues that run alongside the spinal column.\n", + " definition of HP:6000592 (Paraspinal arteriovenous malformation)\n", + " \n", + " \n", + " Joint contracture of the 3rd finger\n", + " definition of HP:0009319 (Joint contracture of the 3rd finger)\n", + " \n", + " \n", + " Chronic loss of joint motion in the 3rd finger due to structural changes in non-bony tissue. The term camptodactyly of the 3rd finger is used if the distal and/or proximal interphalangeal joints are affected.\n", + " definition of HP:0009319 (Joint contracture of the 3rd finger)\n", + " \n", + " \n", + " #Camptodactyly of middle finger\n", + " definition of HP:0009319 (Joint contracture of the 3rd finger)\n", + " \n", + " \n", + " Reduced left ventricular endsystolic diameter\n", + " definition of HP:0034386 (Reduced left ventricular endsystolic diameter)\n", + " \n", + " \n", + " A lower than normal left ventricular endsystolic diameter.\n", + " definition of HP:0034386 (Reduced left ventricular endsystolic diameter)\n", + " \n", + " \n", + " Mild fetal ventriculomegaly\n", + " definition of HP:0010952 (Mild fetal ventriculomegaly)\n", + " \n", + " \n", + " A kind of ventriculomegaly occurring in the fetal period and usually diagnosed by prenatal ultrasound. Cerebral ventriculomegaly is defined by atrial measurements 10 mm or more. Mild ventriculomegaly (MVM) is defined as measurements between 10 and 15 mm. Measurements are obtained from an axial plane at the level of the thalamic nuclei just below the standard image to measure the BPD (PMID:16100637).\n", + " definition of HP:0010952 (Mild fetal ventriculomegaly)\n", + " \n", + " \n", + " #Mild foetal ventriculomegaly\n", + " definition of HP:0010952 (Mild fetal ventriculomegaly)\n", + " \n", + " \n", + " Anti-class I HLA antibody positivity\n", + " definition of HP:0034017 (Anti-class I HLA antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a class I human leukocyte antigen (HLA). Class I HLA corresponds to MHC class I (A, B, and C).\n", + " definition of HP:0034017 (Anti-class I HLA antibody positivity)\n", + " \n", + " \n", + " Exacerbated by flexion\n", + " definition of HP:0034802 (Exacerbated by flexion)\n", + " \n", + " \n", + " Applied to a sign or symptom that is aggravated by (or made more painful by) bending of a limb or joint.\n", + " definition of HP:0034802 (Exacerbated by flexion)\n", + " \n", + " \n", + " Heberden's node\n", + " definition of HP:0012313 (Heberden's node)\n", + " \n", + " \n", + " Bony swelling of the distal interphalangeal joint (DIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically.\n", + " definition of HP:0012313 (Heberden's node)\n", + " \n", + " \n", + " Abnormal mitochondrial morphology\n", + " definition of HP:0008322 (Abnormal mitochondrial morphology)\n", + " \n", + " \n", + " Any structural anomaly of the mitochondria.\n", + " definition of HP:0008322 (Abnormal mitochondrial morphology)\n", + " \n", + " \n", + " #Abnormal mitochondrion morphology\n", + " definition of HP:0008322 (Abnormal mitochondrial morphology)\n", + " \n", + " \n", + " Lateral ventricular asymmetry\n", + " definition of HP:0100960 (Lateral ventricular asymmetry)\n", + " \n", + " \n", + " Abnormal difference in size between the left and right lateral cerebral ventricles.\n", + " definition of HP:0100960 (Lateral ventricular asymmetry)\n", + " \n", + " \n", + " #Asymmetric lateral ventricles #Asymmetric ventricles #Cerebral lateral ventricular asymmetry\n", + " definition of HP:0100960 (Lateral ventricular asymmetry)\n", + " \n", + " \n", + " Anterior predominant subcortical band heterotopia\n", + " definition of HP:0032412 (Anterior predominant subcortical band heterotopia)\n", + " \n", + " \n", + " Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible in the frontal and temporal lobes.\n", + " definition of HP:0032412 (Anterior predominant subcortical band heterotopia)\n", + " \n", + " \n", + " #Frontal subcortical band heterotopia #Subcortical band heterotopia anterior predominant\n", + " definition of HP:0032412 (Anterior predominant subcortical band heterotopia)\n", + " \n", + " \n", + " Ureter fissus\n", + " definition of HP:0012571 (Ureter fissus)\n", + " \n", + " \n", + " A partial duplication of the ureter where the duplicated ureters fuse to a single ureter before their insertion into the bladder.\n", + " definition of HP:0012571 (Ureter fissus)\n", + " \n", + " \n", + " #Partially duplicated ureter\n", + " definition of HP:0012571 (Ureter fissus)\n", + " \n", + " \n", + " Abnormal hyoglossus muscle morphology\n", + " definition of HP:3000051 (Abnormal hyoglossus muscle morphology)\n", + " \n", + " \n", + " An abnormality of a hyoglossus muscle.\n", + " definition of HP:3000051 (Abnormal hyoglossus muscle morphology)\n", + " \n", + " \n", + " #Abnormality of hyoglossus muscle\n", + " definition of HP:3000051 (Abnormal hyoglossus muscle morphology)\n", + " \n", + " \n", + " Fetal intraventricular hemorrhage\n", + " definition of HP:0034210 (Fetal intraventricular hemorrhage)\n", + " \n", + " \n", + " A type of fetal intracranial hemorrhage with bleeding into the ventricular system of the brain.\n", + " definition of HP:0034210 (Fetal intraventricular hemorrhage)\n", + " \n", + " \n", + " Progressive psychomotor deterioration\n", + " definition of HP:0007272 (Progressive psychomotor deterioration)\n", + " \n", + " \n", + " #Progressive mental and motor deterioration\n", + " definition of HP:0007272 (Progressive psychomotor deterioration)\n", + " \n", + " \n", + " Tessier number 9 facial cleft\n", + " definition of HP:0031581 (Tessier number 9 facial cleft)\n", + " \n", + " \n", + " This is an upper lateral orbital cleft. The soft tissue deformity is in the lateral one-third of the upper eyelid, and the bony cleft is through the superolateral orbital angle. Microphthalmia is present. The superolateral bony deficiency of the orbits allows a lateral displacement of the globes. The lateral one-third of the upper eyelid and the outer canthus are distorted, thus preventing apposition to the globe. The upper eyelid does not have a true cleft. A soft tissue furrow radiates superiorly and posterisphenoid is symmetric and normal. Mild cranial base asymmetry is reflected in the pterygoid plates. The left pair is more laterally displaced from the midline. Skull vault plagiocephaly is evident with an apparent reduction in the anteroposterior dimension of the anterior cranial fossa.\n", + " definition of HP:0031581 (Tessier number 9 facial cleft)\n", + " \n", + " \n", + " Recurrent Aspergillus infections\n", + " definition of HP:0002724 (Recurrent Aspergillus infections)\n", + " \n", + " \n", + " An increased susceptibility to Aspergillus infections, as manifested by a history of recurrent episodes of Aspergillus infections.\n", + " definition of HP:0002724 (Recurrent Aspergillus infections)\n", + " \n", + " \n", + " #Aspergillus infections, recurrent\n", + " definition of HP:0002724 (Recurrent Aspergillus infections)\n", + " \n", + " \n", + " Spatulate ribs\n", + " definition of HP:0012307 (Spatulate ribs)\n", + " \n", + " \n", + " Ribs that are increased in width and taper to the posterior ends.\n", + " definition of HP:0012307 (Spatulate ribs)\n", + " \n", + " \n", + " Class I obesity\n", + " definition of HP:0025499 (Class I obesity)\n", + " \n", + " \n", + " Obesity with a body mass index of 30 to 34.9 kg per square meter.\n", + " definition of HP:0025499 (Class I obesity)\n", + " \n", + " \n", + " #Obesity grade 1\n", + " definition of HP:0025499 (Class I obesity)\n", + " \n", + " \n", + " Increased vertical cup-to-disc ratio\n", + " definition of HP:0031973 (Increased vertical cup-to-disc ratio)\n", + " \n", + " \n", + " An abnormal increase in the ratio of the height of the cup of the optic nerve head to the height of the disk.\n", + " definition of HP:0031973 (Increased vertical cup-to-disc ratio)\n", + " \n", + " \n", + " Thalamic arteriovenous malformation\n", + " definition of HP:0031254 (Thalamic arteriovenous malformation)\n", + " \n", + " \n", + " An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the thalamus.\n", + " definition of HP:0031254 (Thalamic arteriovenous malformation)\n", + " \n", + " \n", + " Lower-limb metaphyseal irregularity\n", + " definition of HP:0030291 (Lower-limb metaphyseal irregularity)\n", + " \n", + " \n", + " Irregularity of the normally smooth surface of one or more metaphyses of a bone of the leg.\n", + " definition of HP:0030291 (Lower-limb metaphyseal irregularity)\n", + " \n", + " \n", + " Abnormal metacarpal morphology\n", + " definition of HP:0005916 (Abnormal metacarpal morphology)\n", + " \n", + " \n", + " Any abnormal shape or structure of the metacarpal bones.\n", + " definition of HP:0005916 (Abnormal metacarpal morphology)\n", + " \n", + " \n", + " #Abnormal shape of long bones of hand #Abnormal shape of metacarpal bones\n", + " definition of HP:0005916 (Abnormal metacarpal morphology)\n", + " \n", + " \n", + " Lateral femoral bowing\n", + " definition of HP:0005090 (Lateral femoral bowing)\n", + " \n", + " \n", + " A lateral bending or abnormal curvature of the femur.\n", + " definition of HP:0005090 (Lateral femoral bowing)\n", + " \n", + " \n", + " 2-3 toe cutaneous syndactyly\n", + " definition of HP:0005709 (2-3 toe cutaneous syndactyly)\n", + " \n", + " \n", + " #Complete cutaneous syndactyly of second and third toes #Cutaneous 2,3 toe syndactyly #Cutaneous syndactyly of second and third toes #Webbed skin of 2nd-3rd toes\n", + " definition of HP:0005709 (2-3 toe cutaneous syndactyly)\n", + " \n", + " \n", + " Palate mass\n", + " definition of HP:0034413 (Palate mass)\n", + " \n", + " \n", + " A lump in the region of the palate. A mass is any lump in the body that can be caused by the abnormal growth of cells, a cyst, hormonal changes or an immune reaction. Typically a mass is an initial finding that will lead to additional workup.\n", + " definition of HP:0034413 (Palate mass)\n", + " \n", + " \n", + " Poor hand-eye coordination\n", + " definition of HP:0007057 (Poor hand-eye coordination)\n", + " \n", + " \n", + " Macular hyperpigmented dermopathy\n", + " definition of HP:0007412 (Macular hyperpigmented dermopathy)\n", + " \n", + " \n", + " Fetal anomaly\n", + " definition of HP:0034057 (Fetal anomaly)\n", + " \n", + " \n", + " Structural or functional abnormalities of the fetus. Note that this section comprises terms that describe abnormalities that are specific to the fetus or differ from the corresponding general terms. A term from anywhere in the Human Phenotype Ontology can be applied to a fetus if appropriate.\n", + " definition of HP:0034057 (Fetal anomaly)\n", + " \n", + " \n", + " Focal aware cognitive seizure with anomia\n", + " definition of HP:0032708 (Focal aware cognitive seizure with anomia)\n", + " \n", + " \n", + " A focal cognitive seizure with anomia characterized by retained awareness throughout the seizure.\n", + " definition of HP:0032708 (Focal aware cognitive seizure with anomia)\n", + " \n", + " \n", + " Ankle dislocation\n", + " definition of HP:6001057 (Ankle dislocation)\n", + " \n", + " \n", + " An abnormal separation between the talo-tibial joint.\n", + " definition of HP:6001057 (Ankle dislocation)\n", + " \n", + " \n", + " Abnormal number of incisors\n", + " definition of HP:0011064 (Abnormal number of incisors)\n", + " \n", + " \n", + " The presence of an altered number of the incisor teeth.\n", + " definition of HP:0011064 (Abnormal number of incisors)\n", + " \n", + " \n", + " #Abnormal number of front teeth #Abnormal number of incisors\n", + " definition of HP:0011064 (Abnormal number of incisors)\n", + " \n", + " \n", + " Abnormal frontal bone morphology\n", + " definition of HP:0430000 (Abnormal frontal bone morphology)\n", + " \n", + " \n", + " An abnormality of the frontal bone.\n", + " definition of HP:0430000 (Abnormal frontal bone morphology)\n", + " \n", + " \n", + " #Abnormality of the bone of the forehead #Abnormality of the frontal bone\n", + " definition of HP:0430000 (Abnormal frontal bone morphology)\n", + " \n", + " \n", + " Decreased platelet glycoprotein Ib\n", + " definition of HP:0031156 (Decreased platelet glycoprotein Ib)\n", + " \n", + " \n", + " Decreased platelet cell membrane concentration of glycoprotein Ib.\n", + " definition of HP:0031156 (Decreased platelet glycoprotein Ib)\n", + " \n", + " \n", + " Hypergranulosis\n", + " definition of HP:0025114 (Hypergranulosis)\n", + " \n", + " \n", + " Hypergranulosis is an increased thickness of the stratum granulosum.\n", + " definition of HP:0025114 (Hypergranulosis)\n", + " \n", + " \n", + " Premature closure of the ductus arteriosus\n", + " definition of HP:0025675 (Premature closure of the ductus arteriosus)\n", + " \n", + " \n", + " A prenatal partial or complete closure of the ductus arteriosus (i.e., prior to delivery).\n", + " definition of HP:0025675 (Premature closure of the ductus arteriosus)\n", + " \n", + " \n", + " #Fetal arterial duct narrowing-closure #Fetal ductus arteriosus narrowing-closure #Fetal PAD narrowing-closure #Fetal PDA narrowing-closure #Foetal arterial duct narrowing-closure #Foetal ductus arteriosus narrowing-closure #Foetal PAD narrowing-closure #Foetal PDA narrowing-closure #Idiopathic constriction of the fetal ductus arteriosus #Idiopathic constriction of the foetal ductus arteriosus #PCDA\n", + " definition of HP:0025675 (Premature closure of the ductus arteriosus)\n", + " \n", + " \n", + " Bloodstream parasite-specific antibody positivity\n", + " definition of HP:0430060 (Bloodstream parasite-specific antibody positivity)\n", + " \n", + " \n", + " The presence of antibodies in the blood circulation that react against a parasite.\n", + " definition of HP:0430060 (Bloodstream parasite-specific antibody positivity)\n", + " \n", + " \n", + " Propionic acidemia\n", + " definition of HP:0003571 (Propionic acidemia)\n", + " \n", + " \n", + " Increased concentration of proprionic acid in the blood circulation.\n", + " definition of HP:0003571 (Propionic acidemia)\n", + " \n", + " \n", + " Left aortic arch with cervical origin of the right subclavian artery\n", + " definition of HP:0011591 (Left aortic arch with cervical origin of the right subclavian artery)\n", + " \n", + " \n", + " Decreased size of the clitoris\n", + " definition of HP:0040254 (Decreased size of the clitoris)\n", + " \n", + " \n", + " Slanting of the palpebral fissure\n", + " definition of HP:0200006 (Slanting of the palpebral fissure)\n", + " \n", + " \n", + " #Slanting of the opening between the eyelids\n", + " definition of HP:0200006 (Slanting of the palpebral fissure)\n", + " \n", + " \n", + " Increased circulating vitamin E concentration\n", + " definition of HP:0034901 (Increased circulating vitamin E concentration)\n", + " \n", + " \n", + " Concentration of vitamin E in the blood circulation above the upper limit of normal.\n", + " definition of HP:0034901 (Increased circulating vitamin E concentration)\n", + " \n", + " \n", + " Abnormal brain creatine level by MRS\n", + " definition of HP:0025049 (Abnormal brain creatine level by MRS)\n", + " \n", + " \n", + " #Abnormal brain creatine level by magnetic resonance spectroscopy\n", + " definition of HP:0025049 (Abnormal brain creatine level by MRS)\n", + " \n", + " \n", + " Rudimentary postaxial polydactyly of hands\n", + " definition of HP:0005676 (Rudimentary postaxial polydactyly of hands)\n", + " \n", + " \n", + " Gustatory agnosia\n", + " definition of HP:5200411 (Gustatory agnosia)\n", + " \n", + " \n", + " People cannot identify tastes, even though they can experience them.\n", + " definition of HP:5200411 (Gustatory agnosia)\n", + " \n", + " \n", + " Loss of truncal subcutaneous adipose tissue\n", + " definition of HP:0009002 (Loss of truncal subcutaneous adipose tissue)\n", + " \n", + " \n", + " Loss (reduction of previously present) of subcutaneous adipose tissue in the region of the trunk.\n", + " definition of HP:0009002 (Loss of truncal subcutaneous adipose tissue)\n", + " \n", + " \n", + " #Loss of fat tissue in trunk #Loss of subcutaneous truncal adipose tissue #Loss of truncal adipose tissue\n", + " definition of HP:0009002 (Loss of truncal subcutaneous adipose tissue)\n", + " \n", + " \n", + " Pain insensitivity\n", + " definition of HP:0007021 (Pain insensitivity)\n", + " \n", + " \n", + " Inability to perceive painful stimuli.\n", + " definition of HP:0007021 (Pain insensitivity)\n", + " \n", + " \n", + " #Absence of pain sensation\n", + " definition of HP:0007021 (Pain insensitivity)\n", + " \n", + " \n", + " Pectoralis hypoplasia\n", + " definition of HP:0008998 (Pectoralis hypoplasia)\n", + " \n", + " \n", + " Underdevelopment of the pectoral muscle.\n", + " definition of HP:0008998 (Pectoralis hypoplasia)\n", + " \n", + " \n", + " #Hypoplastic pectoral muscle #Small pec muscle #Underdeveloped pec muscle\n", + " definition of HP:0008998 (Pectoralis hypoplasia)\n", + " \n", + " \n", + " Focal aware sensory seizure with auditory features\n", + " definition of HP:0032864 (Focal aware sensory seizure with auditory features)\n", + " \n", + " \n", + " A type of focal sensory seizure with auditory features during which awareness is retained throughout the seizure.\n", + " definition of HP:0032864 (Focal aware sensory seizure with auditory features)\n", + " \n", + " \n", + " Aplasia of the nose\n", + " definition of HP:0009927 (Aplasia of the nose)\n", + " \n", + " \n", + " Complete absence of all nasal structures.\n", + " definition of HP:0009927 (Aplasia of the nose)\n", + " \n", + " \n", + " #Absent nose #Arrhinia #Failure of development of nose #Nasal underdevelopment #Underdevelopment of nose\n", + " definition of HP:0009927 (Aplasia of the nose)\n", + " \n", + " \n", + " Optic pit\n", + " definition of HP:0034567 (Optic pit)\n", + " \n", + " \n", + " A developmental anomaloy characterized by congenital excavation of the optic nerve head.\n", + " definition of HP:0034567 (Optic pit)\n", + " \n", + " \n", + " #Optic disc pit #Optic nerve pit\n", + " definition of HP:0034567 (Optic pit)\n", + " \n", + " \n", + " Paraphimosis\n", + " definition of HP:0100588 (Paraphimosis)\n", + " \n", + " \n", + " The foreskin becomes trapped behind the glans penis, and cannot be pulled back to its normal flaccid position covering the glans penis.\n", + " definition of HP:0100588 (Paraphimosis)\n", + " \n", + " \n", + " Multiple bilateral pneumothoraces\n", + " definition of HP:0005939 (Multiple bilateral pneumothoraces)\n", + " \n", + " \n", + " Reduced muscle enolase activity\n", + " definition of HP:0034633 (Reduced muscle enolase activity)\n", + " \n", + " \n", + " Diminished activity of the enzyme enolase in muscle tissue. The enzyme enolase catalyzes the interconversion of 2-phosphoglycerate and phosphoenolpyruvate. In adult human muscle, over 90% of enolase activity is accounted for by the beta-enolase subunit, the protein product of the ENO3 gene.\n", + " definition of HP:0034633 (Reduced muscle enolase activity)\n", + " \n", + " \n", + " #Muscle biopsy: beta-enolase activity low\n", + " definition of HP:0034633 (Reduced muscle enolase activity)\n", + " \n", + " \n", + " Increased fecal bile acid\n", + " definition of HP:0034043 (Increased fecal bile acid)\n", + " \n", + " \n", + " Elevated amount of bile acids in the feces.\n", + " definition of HP:0034043 (Increased fecal bile acid)\n", + " \n", + " \n", + " Undulate ribs\n", + " definition of HP:0010561 (Undulate ribs)\n", + " \n", + " \n", + " An abnormally wavy surface or edge of the ribs.\n", + " definition of HP:0010561 (Undulate ribs)\n", + " \n", + " \n", + " #Wavy ribs\n", + " definition of HP:0010561 (Undulate ribs)\n", + " \n", + " \n", + " Pulmonary arteriovenous fistulas\n", + " definition of HP:0004952 (Pulmonary arteriovenous fistulas)\n", + " \n", + " \n", + " A rare vascular anomaly with a direct communication between pulmonary artery and pulmonary vein without an intervening capillary bed.\n", + " definition of HP:0004952 (Pulmonary arteriovenous fistulas)\n", + " \n", + " \n", + " 3-5 toe syndactyly\n", + " definition of HP:0010716 (3-5 toe syndactyly)\n", + " \n", + " \n", + " Syndactyly with fusion of toes three to five.\n", + " definition of HP:0010716 (3-5 toe syndactyly)\n", + " \n", + " \n", + " #Webbed 3rd-5th toes\n", + " definition of HP:0010716 (3-5 toe syndactyly)\n", + " \n", + " \n", + " T-wave alternans\n", + " definition of HP:0012266 (T-wave alternans)\n", + " \n", + " \n", + " A periodic beat-to-beat variation in the amplitude or shape of the T wave in an EKG.\n", + " definition of HP:0012266 (T-wave alternans)\n", + " \n", + " \n", + " Premature epimetaphyseal fusion in tibia\n", + " definition of HP:0012564 (Premature epimetaphyseal fusion in tibia)\n", + " \n", + " \n", + " Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the tibia, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.\n", + " definition of HP:0012564 (Premature epimetaphyseal fusion in tibia)\n", + " \n", + " \n", + " Developmental stagnation at onset of seizures\n", + " definition of HP:0006834 (Developmental stagnation at onset of seizures)\n", + " \n", + " \n", + " A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills, following the onset of epilepsy.\n", + " definition of HP:0006834 (Developmental stagnation at onset of seizures)\n", + " \n", + " \n", + " Focal impaired awareness hemiclonic seizure\n", + " definition of HP:0032799 (Focal impaired awareness hemiclonic seizure)\n", + " \n", + " \n", + " A focal hemiclonic seizure in which awareness is impaired at some point during the seizure.\n", + " definition of HP:0032799 (Focal impaired awareness hemiclonic seizure)\n", + " \n", + " \n", + " Unilateral renal hypoplasia\n", + " definition of HP:0012583 (Unilateral renal hypoplasia)\n", + " \n", + " \n", + " One sided hypoplasia of the kidney.\n", + " definition of HP:0012583 (Unilateral renal hypoplasia)\n", + " \n", + " \n", + " #Small kidney on one side #Underdeveloped kidney on one side\n", + " definition of HP:0012583 (Unilateral renal hypoplasia)\n", + " \n", + " \n", + " Abnormal serum osmolality\n", + " definition of HP:6000679 (Abnormal serum osmolality)\n", + " \n", + " \n", + " Any deviation from the normal range of the serum osmolality, defined as the sum of the osmolalities of every single dissolved particle in the blood such as sodium and associated anions, potassium, glucose, and urea.\n", + " definition of HP:6000679 (Abnormal serum osmolality)\n", + " \n", + " \n", + " Malignant gastrointestinal tract tumors\n", + " definition of HP:0006749 (Malignant gastrointestinal tract tumors)\n", + " \n", + " \n", + " #Malignant gastrointestinal tract tumours #Malignant GI tract tumors #Malignant GI tract tumours\n", + " definition of HP:0006749 (Malignant gastrointestinal tract tumors)\n", + " \n", + " \n", + " Epiphyseal stippling of the humerus\n", + " definition of HP:0003902 (Epiphyseal stippling of the humerus)\n", + " \n", + " \n", + " The presence of abnormal punctate (speckled, dot-like) calcifications in the humeral epiphysis.\n", + " definition of HP:0003902 (Epiphyseal stippling of the humerus)\n", + " \n", + " \n", + " #Stippled ossification of the humeral epiphyses\n", + " definition of HP:0003902 (Epiphyseal stippling of the humerus)\n", + " \n", + " \n", + " Foot asymmetry\n", + " definition of HP:0010507 (Foot asymmetry)\n", + " \n", + " \n", + " A difference in size or shape between the left and right foot.\n", + " definition of HP:0010507 (Foot asymmetry)\n", + " \n", + " \n", + " Generalized clonic seizure\n", + " definition of HP:0011169 (Generalized clonic seizure)\n", + " \n", + " \n", + " Generalized clonic seizure is a type of generalized motor seizure characterized by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups.\n", + " definition of HP:0011169 (Generalized clonic seizure)\n", + " \n", + " \n", + " #Generalised clonic seizure #Generalised clonic seizures #Generalised onset clonic seizure #Generalised-onset clonic seizure #Generalized clonic seizures #Generalized onset clonic seizure #Generalized-onset clonic seizure\n", + " definition of HP:0011169 (Generalized clonic seizure)\n", + " \n", + " \n", + " Poor motor coordination\n", + " definition of HP:0002275 (Poor motor coordination)\n", + " \n", + " \n", + " #Poor motor coordination\n", + " definition of HP:0002275 (Poor motor coordination)\n", + " \n", + " \n", + " Persistent viremia\n", + " definition of HP:0032248 (Persistent viremia)\n", + " \n", + " \n", + " Persistence of virus in the blood circulation longer than would be normal in an immunocompetent host.\n", + " definition of HP:0032248 (Persistent viremia)\n", + " \n", + " \n", + " Scaling skin\n", + " definition of HP:0040189 (Scaling skin)\n", + " \n", + " \n", + " Refers to the loss of the outer layer of the epidermis in large, scale-like flakes.\n", + " definition of HP:0040189 (Scaling skin)\n", + " \n", + " \n", + " #Desquamation #flaking skin #peeling skin #Scaling skin #Scaly skin\n", + " definition of HP:0040189 (Scaling skin)\n", + " \n", + " \n", + " Abnormal basophil morphology\n", + " definition of HP:0001912 (Abnormal basophil morphology)\n", + " \n", + " \n", + " Any structural abnormality or abnormal count of basophils.\n", + " definition of HP:0001912 (Abnormal basophil morphology)\n", + " \n", + " \n", + " #Abnormality of basophils\n", + " definition of HP:0001912 (Abnormal basophil morphology)\n", + " \n", + " \n", + " Underdeveloped nasal alae\n", + " definition of HP:0000430 (Underdeveloped nasal alae)\n", + " \n", + " \n", + " Thinned, deficient, or excessively arched ala nasi.\n", + " definition of HP:0000430 (Underdeveloped nasal alae)\n", + " \n", + " \n", + " #Ala nasi, underdeveloped #Alar cartilage hypoplasia #Decreased size of nasal alae #Hypoplastic alae nasae #Hypoplastic alae nasi #Hypoplastic alar cartilage #Hypoplastic alar nasae #Hypoplastic nares #Hypoplastic nasal alae #Hypoplastic nasal wings #Hypoplastic nostrils #Nasal cartilage hypoplasia #Small nasal alae #Thin hypoplastic alae nasi #Underdeveloped tissue around nostril\n", + " definition of HP:0000430 (Underdeveloped nasal alae)\n", + " \n", + " \n", + " Narrow uvula\n", + " definition of HP:0010811 (Narrow uvula)\n", + " \n", + " \n", + " Decreased width of the uvula.\n", + " definition of HP:0010811 (Narrow uvula)\n", + " \n", + " \n", + " #Narrow palatine uvula\n", + " definition of HP:0010811 (Narrow uvula)\n", + " \n", + " \n", + " Oral motor hypotonia\n", + " definition of HP:0030190 (Oral motor hypotonia)\n", + " \n", + " \n", + " Reduced muscle tone of oral musculature. In infants, this feature may be associated with difficulties in breast feeding, and may affect the latch, jaw motions, tongue placement, lip seal, suck/swallow/breathe pattern and overall feeding behavior.\n", + " definition of HP:0030190 (Oral motor hypotonia)\n", + " \n", + " \n", + " Hydroxyprolinemia\n", + " definition of HP:0003260 (Hydroxyprolinemia)\n", + " \n", + " \n", + " An increased concentration of hydroxyproline in the blood.\n", + " definition of HP:0003260 (Hydroxyprolinemia)\n", + " \n", + " \n", + " #High blood hydroxyproline levels\n", + " definition of HP:0003260 (Hydroxyprolinemia)\n", + " \n", + " \n", + " Bilateral renal dysplasia\n", + " definition of HP:0012582 (Bilateral renal dysplasia)\n", + " \n", + " \n", + " A bilateral form of developmental dysplasia of the kidney.\n", + " definition of HP:0012582 (Bilateral renal dysplasia)\n", + " \n", + " \n", + " Abnormality of the second metatarsal bone\n", + " definition of HP:0040034 (Abnormality of the second metatarsal bone)\n", + " \n", + " \n", + " #Abnormality of the 2nd long bone of foot\n", + " definition of HP:0040034 (Abnormality of the second metatarsal bone)\n", + " \n", + " \n", + " Shortened outer dynein arms\n", + " definition of HP:0200108 (Shortened outer dynein arms)\n", + " \n", + " \n", + " Cortical peritubular capillary lumen cholesterol emboli\n", + " definition of HP:0033872 (Cortical peritubular capillary lumen cholesterol emboli)\n", + " \n", + " \n", + " Needle-like or slit-like clefts within the interior space of peritubular capillaries located in the cortex of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.\n", + " definition of HP:0033872 (Cortical peritubular capillary lumen cholesterol emboli)\n", + " \n", + " \n", + " Functional abnormality of male internal genitalia\n", + " definition of HP:0000025 (Functional abnormality of male internal genitalia)\n", + " \n", + " \n", + " Hypothreoninemia\n", + " definition of HP:0500136 (Hypothreoninemia)\n", + " \n", + " \n", + " A decreased amount of threonine in the blood.\n", + " definition of HP:0500136 (Hypothreoninemia)\n", + " \n", + " \n", + " #Decreased circulating threonine levels #Decreased threonine blood levels #Low blood threonine concentration\n", + " definition of HP:0500136 (Hypothreoninemia)\n", + " \n", + " \n", + " Intrahepatic bile duct dilatation\n", + " definition of HP:0033149 (Intrahepatic bile duct dilatation)\n", + " \n", + " \n", + " Increased diameter (caliber) of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts).\n", + " definition of HP:0033149 (Intrahepatic bile duct dilatation)\n", + " \n", + " \n", + " #Dilatation of intrahepatic biliary ducts\n", + " definition of HP:0033149 (Intrahepatic bile duct dilatation)\n", + " \n", + " \n", + " Abnormality of orbicularis oris muscle\n", + " definition of HP:3000010 (Abnormality of orbicularis oris muscle)\n", + " \n", + " \n", + " An abnormality of an orbicularis oris muscle.\n", + " definition of HP:3000010 (Abnormality of orbicularis oris muscle)\n", + " \n", + " \n", + " Autoimmune hemolytic anemia\n", + " definition of HP:0001890 (Autoimmune hemolytic anemia)\n", + " \n", + " \n", + " An autoimmune form of hemolytic anemia.\n", + " definition of HP:0001890 (Autoimmune hemolytic anemia)\n", + " \n", + " \n", + " #Autoimmune haemolytic anaemia #Autoimmune haemolytic anemia #Autoimmune hemolytic anaemia #Hemolytic anemia, autoimmune\n", + " definition of HP:0001890 (Autoimmune hemolytic anemia)\n", + " \n", + " \n", + " Abnormality of the lower limb\n", + " definition of HP:0002814 (Abnormality of the lower limb)\n", + " \n", + " \n", + " An abnormality of the leg.\n", + " definition of HP:0002814 (Abnormality of the lower limb)\n", + " \n", + " \n", + " #Abnormality of the leg #Abnormality of the lower limb #Lower limb deformities\n", + " definition of HP:0002814 (Abnormality of the lower limb)\n", + " \n", + " \n", + " Broad 5th toe\n", + " definition of HP:0100043 (Broad 5th toe)\n", + " \n", + " \n", + " A broad appearance of the fifth toe.\n", + " definition of HP:0100043 (Broad 5th toe)\n", + " \n", + " \n", + " #Broad 5th toe #Broad little toe #Broad pinkie toe #Broad pinky toe\n", + " definition of HP:0100043 (Broad 5th toe)\n", + " \n", + " \n", + " Supernumerary bones of the axial skeleton\n", + " definition of HP:0009144 (Supernumerary bones of the axial skeleton)\n", + " \n", + " \n", + " Thrombophlebitis\n", + " definition of HP:0004418 (Thrombophlebitis)\n", + " \n", + " \n", + " Inflammation of a vein associated with venous thrombosis (blood clot formation within the vein).\n", + " definition of HP:0004418 (Thrombophlebitis)\n", + " \n", + " \n", + " Liver hamartoma\n", + " definition of HP:0034514 (Liver hamartoma)\n", + " \n", + " \n", + " A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the liver.\n", + " definition of HP:0034514 (Liver hamartoma)\n", + " \n", + " \n", + " Fractured fused sacrum\n", + " definition of HP:0041172 (Fractured fused sacrum)\n", + " \n", + " \n", + " A partial or complete breakage of the fused sacrum.\n", + " definition of HP:0041172 (Fractured fused sacrum)\n", + " \n", + " \n", + " #bone fused sacrum\n", + " definition of HP:0041172 (Fractured fused sacrum)\n", + " \n", + " \n", + " Recurrent thrombophlebitis\n", + " definition of HP:0004419 (Recurrent thrombophlebitis)\n", + " \n", + " \n", + " Repeated episodes of inflammation of a vein associated with venous thrombosis (blood clot formation within the vein).\n", + " definition of HP:0004419 (Recurrent thrombophlebitis)\n", + " \n", + " \n", + " #Recurrent phlebitis #Recurrent thrombosis\n", + " definition of HP:0004419 (Recurrent thrombophlebitis)\n", + " \n", + " \n", + " Central retinal artery occlusion\n", + " definition of HP:0025342 (Central retinal artery occlusion)\n", + " \n", + " \n", + " Blockage of the main artery in the retina. The typical presentation is one of profound monocular visual loss.\n", + " definition of HP:0025342 (Central retinal artery occlusion)\n", + " \n", + " \n", + " Abnormal diffusion weighted cerebral MRI morphology\n", + " definition of HP:0032615 (Abnormal diffusion weighted cerebral MRI morphology)\n", + " \n", + " \n", + " A diffusion abnormality observed in diffusion-weighted magnetic resonance imaging (MRI) of the brain. Molecular diffusion refers to the notion that any type of molecule in a fluid (eg, water) is randomly displaced as the molecule is agitated by thermal energy. Restricted diffusion of water appears bright on diffusion-weighted images.\n", + " definition of HP:0032615 (Abnormal diffusion weighted cerebral MRI morphology)\n", + " \n", + " \n", + " #Diffusion weighted imaging (DWI) abnormality #Diffusion weighted magnetic resonance imaging (DWI) abnormality #MRI diffusion abnormality of the cerebrum\n", + " definition of HP:0032615 (Abnormal diffusion weighted cerebral MRI morphology)\n", + " \n", + " \n", + " Urinary space collagenization\n", + " definition of HP:0033313 (Urinary space collagenization)\n", + " \n", + " \n", + " Acellular collagenous matrix within Bowman's space, not associated with extracapillary hypercellularity or necrosis, associated with sclerosis or deflation of the tuft.\n", + " definition of HP:0033313 (Urinary space collagenization)\n", + " \n", + " \n", + " #Collagenization of the urinary space\n", + " definition of HP:0033313 (Urinary space collagenization)\n", + " \n", + " \n", + " Noncommunicating hydrocephalus\n", + " definition of HP:0010953 (Noncommunicating hydrocephalus)\n", + " \n", + " \n", + " A form of hydrocephalus in which the flow of cerebrospinal fluid (CSF) within the cerebral ventricular system or in the outlets of the CSF to the arachnoid space is obstructed.\n", + " definition of HP:0010953 (Noncommunicating hydrocephalus)\n", + " \n", + " \n", + " Reduced phenylalanine hydroxylase level\n", + " definition of HP:0005982 (Reduced phenylalanine hydroxylase level)\n", + " \n", + " \n", + " A reduction in phenylalanine 4-monooxygenase level.\n", + " definition of HP:0005982 (Reduced phenylalanine hydroxylase level)\n", + " \n", + " \n", + " Reduced circulating vitamin B6 circulating\n", + " definition of HP:0008326 (Reduced circulating vitamin B6 circulating)\n", + " \n", + " \n", + " An abnormally decreased concentration of vitamin B6 in the blood circulation.\n", + " definition of HP:0008326 (Reduced circulating vitamin B6 circulating)\n", + " \n", + " \n", + " #Reduced circulating vitamin B6 level #Reduced vitamin b6 levels #Vitamin B6 deficiency\n", + " definition of HP:0008326 (Reduced circulating vitamin B6 circulating)\n", + " \n", + " \n", + " Congenital giant melanocytic nevus\n", + " definition of HP:0005600 (Congenital giant melanocytic nevus)\n", + " \n", + " \n", + " The giant congenital nevus is greater than 8 cm in size, pigmented and often hairy. A giant congenital nevus is smaller in infants and children, but it usually continues to grow with the child.\n", + " definition of HP:0005600 (Congenital giant melanocytic nevus)\n", + " \n", + " \n", + " #Giant pigmented hairy nevus #Giant pigmented mole #Giant pigmented nevus\n", + " definition of HP:0005600 (Congenital giant melanocytic nevus)\n", + " \n", + " \n", + " Decreased circulating IgE concentration\n", + " definition of HP:0005479 (Decreased circulating IgE concentration)\n", + " \n", + " \n", + " An abnormally decreased level of immunoglobulin E (IgE) in blood.\n", + " definition of HP:0005479 (Decreased circulating IgE concentration)\n", + " \n", + " \n", + " #Decreased circulating IgE #Decreased IgE #IgE deficiency\n", + " definition of HP:0005479 (Decreased circulating IgE concentration)\n", + " \n", + " \n", + " Premature epimetaphyseal fusion in hand\n", + " definition of HP:0012562 (Premature epimetaphyseal fusion in hand)\n", + " \n", + " \n", + " Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the hand, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.\n", + " definition of HP:0012562 (Premature epimetaphyseal fusion in hand)\n", + " \n", + " \n", + " Abnormality of styloglossus muscle\n", + " definition of HP:3000016 (Abnormality of styloglossus muscle)\n", + " \n", + " \n", + " An abnormality of the styloglossus muscle.\n", + " definition of HP:3000016 (Abnormality of styloglossus muscle)\n", + " \n", + " \n", + " Intellectual disability, borderline\n", + " definition of HP:0006889 (Intellectual disability, borderline)\n", + " \n", + " \n", + " Borderline intellectual disability is defined as an intelligence quotient (IQ) in the range of 70-85.\n", + " definition of HP:0006889 (Intellectual disability, borderline)\n", + " \n", + " \n", + " #Intellectual disability, borderline #Mental retardation, borderline\n", + " definition of HP:0006889 (Intellectual disability, borderline)\n", + " \n", + " \n", + " Reduced contrast sensitivity\n", + " definition of HP:0032036 (Reduced contrast sensitivity)\n", + " \n", + " \n", + " An abnormality in perception of contrast. Spatial contrast is a physical dimension referring to the light-dark transition of a border or an edge in an image that delineates the existence of a pattern or an object. Contrast sensitivity refers to a measure of how much contrast a person requires to see a target. Contrast-sensitivity measurements differ from acuity measurements; acuity is a measure of the spatial-resolving ability of the visual system under conditions of very high contrast, whereas contrast sensitivity is a measure of the threshold contrast for seeing a target.\n", + " definition of HP:0032036 (Reduced contrast sensitivity)\n", + " \n", + " \n", + " #Abnormal contrast sensitivity\n", + " definition of HP:0032036 (Reduced contrast sensitivity)\n", + " \n", + " \n", + " Fractured interphalangeal joint\n", + " definition of HP:0041199 (Fractured interphalangeal joint)\n", + " \n", + " \n", + " A partial or complete breakage of the interphalangeal joint.\n", + " definition of HP:0041199 (Fractured interphalangeal joint)\n", + " \n", + " \n", + " #bone interphalangeal joint\n", + " definition of HP:0041199 (Fractured interphalangeal joint)\n", + " \n", + " \n", + " Splenic hemophagocytosis\n", + " definition of HP:0034799 (Splenic hemophagocytosis)\n", + " \n", + " \n", + " Phagocytosis of erythrocytes, lymphocytes or other hematopoietic precursors by histiocytes or macrophages observed in the spleen.\n", + " definition of HP:0034799 (Splenic hemophagocytosis)\n", + " \n", + " \n", + " #Spleen hemophagocytosis\n", + " definition of HP:0034799 (Splenic hemophagocytosis)\n", + " \n", + " \n", + " Decreased circulating copper concentration\n", + " definition of HP:0011967 (Decreased circulating copper concentration)\n", + " \n", + " \n", + " A reduced concentration of copper in the blood.\n", + " definition of HP:0011967 (Decreased circulating copper concentration)\n", + " \n", + " \n", + " #Copper deficiency #Hypocupremia #Reduced serum copper\n", + " definition of HP:0011967 (Decreased circulating copper concentration)\n", + " \n", + " \n", + " Positionally dependent pain\n", + " definition of HP:4000182 (Positionally dependent pain)\n", + " \n", + " \n", + " Pain improves or worsens with changes in body position.\n", + " definition of HP:4000182 (Positionally dependent pain)\n", + " \n", + " \n", + " #Positional nature to pain\n", + " definition of HP:4000182 (Positionally dependent pain)\n", + " \n", + " \n", + " Abnormal superior oblique muscle physiology\n", + " definition of HP:0025591 (Abnormal superior oblique muscle physiology)\n", + " \n", + " \n", + " A functional anomaly of the superior oblique muscle, a fusiform muscle that originates in the upper, medial side of the orbit. The superior oblique muscle abducts, depresses and internally rotates the eye, and is the only extraocular muscle innervated by the fourth cranial nerve.\n", + " definition of HP:0025591 (Abnormal superior oblique muscle physiology)\n", + " \n", + " \n", + " Increased connective tissue\n", + " definition of HP:0009025 (Increased connective tissue)\n", + " \n", + " \n", + " The presence of an abnormally increased amount of connective tissue.\n", + " definition of HP:0009025 (Increased connective tissue)\n", + " \n", + " \n", + " Cutaneous atresia of the external auditory canal\n", + " definition of HP:0040101 (Cutaneous atresia of the external auditory canal)\n", + " \n", + " \n", + " Impaired memory B cell generation\n", + " definition of HP:0002847 (Impaired memory B cell generation)\n", + " \n", + " \n", + " Impaired production of memory cells, the B cells that persist for years or an entire lifetime and which confer rapid and enhanced response to secondary challenge.\n", + " definition of HP:0002847 (Impaired memory B cell generation)\n", + " \n", + " \n", + " Nasogastric tube feeding in infancy\n", + " definition of HP:0011470 (Nasogastric tube feeding in infancy)\n", + " \n", + " \n", + " Feeding problem necessitating nasogastric tube feeding.\n", + " definition of HP:0011470 (Nasogastric tube feeding in infancy)\n", + " \n", + " \n", + " Urinary bladder hamartoma\n", + " definition of HP:0034970 (Urinary bladder hamartoma)\n", + " \n", + " \n", + " A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the urinary bladder.\n", + " definition of HP:0034970 (Urinary bladder hamartoma)\n", + " \n", + " \n", + " Malignant rhabdoid tumor of liver\n", + " definition of HP:0034561 (Malignant rhabdoid tumor of liver)\n", + " \n", + " \n", + " A malginant rhabdoid tumor (MRT) originating in the liver. MRT are best characterized by the presence of round or polygonal cells with abundant eosinophilic cytoplasm, typical eosinophilic perinuclear inclusions, vesicular nuclei and prominent nucleoli. Immunohistochemical expression of vimentin and epithelial markers and lack of staining for S-100, myoglobin and desmin are commonly found, but are non-specific.\n", + " definition of HP:0034561 (Malignant rhabdoid tumor of liver)\n", + " \n", + " \n", + " Recurrent fungal infections\n", + " definition of HP:0002841 (Recurrent fungal infections)\n", + " \n", + " \n", + " Increased susceptibility to fungal infections, as manifested by multiple episodes of fungal infection.\n", + " definition of HP:0002841 (Recurrent fungal infections)\n", + " \n", + " \n", + " #Recurrent fungal infections\n", + " definition of HP:0002841 (Recurrent fungal infections)\n", + " \n", + " \n", + " Focal motor seizure\n", + " definition of HP:0011153 (Focal motor seizure)\n", + " \n", + " \n", + " A type of focal-onset seizure characterized by a motor sign as its initial semiological manifestation.\n", + " definition of HP:0011153 (Focal motor seizure)\n", + " \n", + " \n", + " #Focal motor seizures #Localised motor seizure #Localised motor seizures #Localized motor seizure #Localized motor seizures #Partial motor seizure #Partial motor seizures #Segmental motor seizure\n", + " definition of HP:0011153 (Focal motor seizure)\n", + " \n", + " \n", + " Neurofibrillary tangles\n", + " definition of HP:0002185 (Neurofibrillary tangles)\n", + " \n", + " \n", + " Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form.\n", + " definition of HP:0002185 (Neurofibrillary tangles)\n", + " \n", + " \n", + " #Neurofibrillary tangles composed of disordered microtubules in neurons #Paired helical filaments\n", + " definition of HP:0002185 (Neurofibrillary tangles)\n", + " \n", + " \n", + " Peroneal muscle weakness\n", + " definition of HP:0011727 (Peroneal muscle weakness)\n", + " \n", + " \n", + " Weakness of the peroneal muscles.\n", + " definition of HP:0011727 (Peroneal muscle weakness)\n", + " \n", + " \n", + " #Fibularis muscle weakness\n", + " definition of HP:0011727 (Peroneal muscle weakness)\n", + " \n", + " \n", + " Restricted large joint movement\n", + " definition of HP:0005193 (Restricted large joint movement)\n", + " \n", + " \n", + " Tracheal stenosis\n", + " definition of HP:0002777 (Tracheal stenosis)\n", + " \n", + " \n", + " #Narrowing of windpipe\n", + " definition of HP:0002777 (Tracheal stenosis)\n", + " \n", + " \n", + " Microdontia\n", + " definition of HP:0000691 (Microdontia)\n", + " \n", + " \n", + " Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.\n", + " definition of HP:0000691 (Microdontia)\n", + " \n", + " \n", + " #Decreased size of tooth #Decreased width of tooth #Small teeth #Small tooth #Tooth hypoplasia #Tooth hypotrophy #Underdeveloped tooth\n", + " definition of HP:0000691 (Microdontia)\n", + " \n", + " \n", + " Round epiphyses of the upper limbs\n", + " definition of HP:0003843 (Round epiphyses of the upper limbs)\n", + " \n", + " \n", + " #Round end part of upper limb bones\n", + " definition of HP:0003843 (Round epiphyses of the upper limbs)\n", + " \n", + " \n", + " Pulmonary situs ambiguus with bilateral morphologic right lungs\n", + " definition of HP:0011618 (Pulmonary situs ambiguus with bilateral morphologic right lungs)\n", + " \n", + " \n", + " An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a right lung.\n", + " definition of HP:0011618 (Pulmonary situs ambiguus with bilateral morphologic right lungs)\n", + " \n", + " \n", + " Reduced social responsiveness\n", + " definition of HP:0012760 (Reduced social responsiveness)\n", + " \n", + " \n", + " A reduced ability to participate in the back-and-forth flow of social interaction appropriate to culture and developmental level, which is normally characterized by an influence of the behavior of one person on the behavior of another person. This results in difficulty interacting with others through emotional, physical, or verbal communication.\n", + " definition of HP:0012760 (Reduced social responsiveness)\n", + " \n", + " \n", + " #Impaired social interaction #Impaired social interactions #Impaired social reciprocity #Poor social interactions\n", + " definition of HP:0012760 (Reduced social responsiveness)\n", + " \n", + " \n", + " Mallory bodies\n", + " definition of HP:6000457 (Mallory bodies)\n", + " \n", + " \n", + " Cytoplasmic hyaline inclusions of hepatocytes that are predominantly filamentous ranging from a diameter of 3 to 24 nm vs. 10 nm of classical IF. Mallory-Denk bodies can be classified as type I (parallels filaments), II (randomly orient filaments), or III (granular and amorphous). Type II occurs in the periphery while type III occurs around the center. MDB occur in ballooned hepatocytes.\n", + " definition of HP:6000457 (Mallory bodies)\n", + " \n", + " \n", + " #Mallory-Denk bodies\n", + " definition of HP:6000457 (Mallory bodies)\n", + " \n", + " \n", + " Abnormal skull morphology\n", + " definition of HP:0000929 (Abnormal skull morphology)\n", + " \n", + " \n", + " An abnormality of the skull, the bony framework of the head which is comprised of the neurocranium (with eight cranial bones) and the viscerocranium (facial skeleton) that comprises fourteen facial bones with the mandible as its largest bone.\n", + " definition of HP:0000929 (Abnormal skull morphology)\n", + " \n", + " \n", + " #Abnormality of the skull\n", + " definition of HP:0000929 (Abnormal skull morphology)\n", + " \n", + " \n", + " History of recent rodent exposure\n", + " definition of HP:6000728 (History of recent rodent exposure)\n", + " \n", + " \n", + " A history of exposed to rodents (mice, rats, prarie dogs) within several weeks of the current presenting complaint.\n", + " definition of HP:6000728 (History of recent rodent exposure)\n", + " \n", + " \n", + " Curved hallux phalanx\n", + " definition of HP:0010061 (Curved hallux phalanx)\n", + " \n", + " \n", + " A deviation from the normal straight form of one or more phalanges of the big toe.\n", + " definition of HP:0010061 (Curved hallux phalanx)\n", + " \n", + " \n", + " #Curve bones of big toe #Curved phalanges of the hallux\n", + " definition of HP:0010061 (Curved hallux phalanx)\n", + " \n", + " \n", + " Cardiogenic shock\n", + " definition of HP:0030149 (Cardiogenic shock)\n", + " \n", + " \n", + " Severely decreased cardiac output with evidence of inadequate end-organ perfusion (i.e., tissue hypoxia) in the presence of adequate intravascular volume.\n", + " definition of HP:0030149 (Cardiogenic shock)\n", + " \n", + " \n", + " #Cardiovascular shock\n", + " definition of HP:0030149 (Cardiogenic shock)\n", + " \n", + " \n", + " Abnormal skinfold thickness measurement\n", + " definition of HP:0033170 (Abnormal skinfold thickness measurement)\n", + " \n", + " \n", + " Any deviation from the normal range of a skinfold thickness, which quantifies the amount of subcutaneous fat when the skin is pinched by specialized calipers.\n", + " definition of HP:0033170 (Abnormal skinfold thickness measurement)\n", + " \n", + " \n", + " Tiger tail banding\n", + " definition of HP:0045055 (Tiger tail banding)\n", + " \n", + " \n", + " An abnormal appearance of hair under polarizing microscopy (using crossed polarizers), whereby hair shafts show striking alternating bright and dark bands, often referred to as tiger tail banding.\n", + " definition of HP:0045055 (Tiger tail banding)\n", + " \n", + " \n", + " #Tiger tail banding #Tiger-tail banding\n", + " definition of HP:0045055 (Tiger tail banding)\n", + " \n", + " \n", + " Multiple carpal ossification centers\n", + " definition of HP:0006067 (Multiple carpal ossification centers)\n", + " \n", + " \n", + " A delay in the process of formation and maturation of the epiphysis of one or more long bones.\n", + " definition of HP:0006067 (Multiple carpal ossification centers)\n", + " \n", + " \n", + " #Multiple carpal ossification centres\n", + " definition of HP:0006067 (Multiple carpal ossification centers)\n", + " \n", + " \n", + " Focal emotional seizure with agitation\n", + " definition of HP:0032727 (Focal emotional seizure with agitation)\n", + " \n", + " \n", + " Focal emotional seizure with agitation is characterized by the presence of psychomotor agitation as an expressed or observed emotion, at the outset of the seizure. Because of the unpleasant nature of these seizures, patients may also have anticipatory anxiety about having seizures.\n", + " definition of HP:0032727 (Focal emotional seizure with agitation)\n", + " \n", + " \n", + " Single-lobed right lung\n", + " definition of HP:0033998 (Single-lobed right lung)\n", + " \n", + " \n", + " A developmental defect of pulmonary lobation characterized by the presence of only one lobe of the right lung, which normally has three lobes.\n", + " definition of HP:0033998 (Single-lobed right lung)\n", + " \n", + " \n", + " Hemangiomatosis\n", + " definition of HP:0007461 (Hemangiomatosis)\n", + " \n", + " \n", + " Third cranial nerve thickening\n", + " definition of HP:6000291 (Third cranial nerve thickening)\n", + " \n", + " \n", + " Increase in diameter of the third cranial nerve (oculomotor nerve). This feature can be observed by magnetic resonance imaging and may be accompanied by contrast enhancement.\n", + " definition of HP:6000291 (Third cranial nerve thickening)\n", + " \n", + " \n", + " #Oculomotor nerve thickening\n", + " definition of HP:6000291 (Third cranial nerve thickening)\n", + " \n", + " \n", + " Abnormal radial artery morphology\n", + " definition of HP:0031640 (Abnormal radial artery morphology)\n", + " \n", + " \n", + " Any structural anomaly of the radial artery.\n", + " definition of HP:0031640 (Abnormal radial artery morphology)\n", + " \n", + " \n", + " Pretragal ectopia\n", + " definition of HP:0030024 (Pretragal ectopia)\n", + " \n", + " \n", + " Variably shaped, cartilage-containing tissue anterior to the external auditory meatus.\n", + " definition of HP:0030024 (Pretragal ectopia)\n", + " \n", + " \n", + " Sneeze\n", + " definition of HP:0025095 (Sneeze)\n", + " \n", + " \n", + " A sudden violent, spasmodic, audible expiration of breath through the nose and mouth.\n", + " definition of HP:0025095 (Sneeze)\n", + " \n", + " \n", + " Colonic eosinophilia\n", + " definition of HP:0031813 (Colonic eosinophilia)\n", + " \n", + " \n", + " An excess of eosinophilic cells in colonic tissue, i.e., eosinophilic infiltration in the colon.\n", + " definition of HP:0031813 (Colonic eosinophilia)\n", + " \n", + " \n", + " #Eosinophilic colitis #Eosinophilic infiltration in the colon\n", + " definition of HP:0031813 (Colonic eosinophilia)\n", + " \n", + " \n", + " Decreased circulating selenium concentration\n", + " definition of HP:0033192 (Decreased circulating selenium concentration)\n", + " \n", + " \n", + " An abnormally reduced concentration of selenium in the blood circulation.\n", + " definition of HP:0033192 (Decreased circulating selenium concentration)\n", + " \n", + " \n", + " Capillary malformation\n", + " definition of HP:0025104 (Capillary malformation)\n", + " \n", + " \n", + " A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a capillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules).\n", + " definition of HP:0025104 (Capillary malformation)\n", + " \n", + " \n", + " Melena\n", + " definition of HP:0002249 (Melena)\n", + " \n", + " \n", + " The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding.\n", + " definition of HP:0002249 (Melena)\n", + " \n", + " \n", + " Acral overgrowth\n", + " definition of HP:0033794 (Acral overgrowth)\n", + " \n", + " \n", + " Excessive growth of hands and feet (predominantly due to soft tissue swelling). Typical manifestations include shoe size increase, foot enlargement, glove tightness, and hand enlargement.\n", + " definition of HP:0033794 (Acral overgrowth)\n", + " \n", + " \n", + " #Acral enlargement #Acral hypertrophy #Acromegalic growth\n", + " definition of HP:0033794 (Acral overgrowth)\n", + " \n", + " \n", + " Red urine\n", + " definition of HP:0040318 (Red urine)\n", + " \n", + " \n", + " An abnormal red color of the urine.\n", + " definition of HP:0040318 (Red urine)\n", + " \n", + " \n", + " Congenital pouch colon\n", + " definition of HP:0034301 (Congenital pouch colon)\n", + " \n", + " \n", + " A malformation of the colon in which a pouch-like dilatation of a varying degree of shortened colon is associated with an anorectal malformation. The pouch usually terminates in a fistulous communication with the genitourinary tract.\n", + " definition of HP:0034301 (Congenital pouch colon)\n", + " \n", + " \n", + " Lower eyelid coloboma\n", + " definition of HP:0000652 (Lower eyelid coloboma)\n", + " \n", + " \n", + " A short discontinuity of the margin of the lower eyelid.\n", + " definition of HP:0000652 (Lower eyelid coloboma)\n", + " \n", + " \n", + " #Cleft lower eyelid #Coloboma of lower eyelid #Full thickness defect of the lower eyelid #Lower lid coloboma #Notched lower eyelid\n", + " definition of HP:0000652 (Lower eyelid coloboma)\n", + " \n", + " \n", + " C1-C2 vertebral abnormality\n", + " definition of HP:0008440 (C1-C2 vertebral abnormality)\n", + " \n", + " \n", + " Any abnormality of the atlas and the axis.\n", + " definition of HP:0008440 (C1-C2 vertebral abnormality)\n", + " \n", + " \n", + " Radial deviation of finger\n", + " definition of HP:0009466 (Radial deviation of finger)\n", + " \n", + " \n", + " Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.\n", + " definition of HP:0009466 (Radial deviation of finger)\n", + " \n", + " \n", + " #Radially deviated fingers #Radially deviated phalanges\n", + " definition of HP:0009466 (Radial deviation of finger)\n", + " \n", + " \n", + " Partial duplication of the distal phalanx of the 3rd toe\n", + " definition of HP:0100416 (Partial duplication of the distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Partial duplication of distal phalanx of third toe.\n", + " definition of HP:0100416 (Partial duplication of the distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Partial duplication of the distal phalanx of the third toe #Partial duplication of the outermost bone of the 3rd toe\n", + " definition of HP:0100416 (Partial duplication of the distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Abnormal muscle fiber dysferlin\n", + " definition of HP:0030113 (Abnormal muscle fiber dysferlin)\n", + " \n", + " \n", + " A deviation from normal in the expression of dysferlin in muscle tissue. Dysferlin is an ubiquitous 230-kDa transmembrane protein involved in calcium-mediated sarcolemma resealing.\n", + " definition of HP:0030113 (Abnormal muscle fiber dysferlin)\n", + " \n", + " \n", + " #Abnormal muscle fibre dysferlin\n", + " definition of HP:0030113 (Abnormal muscle fiber dysferlin)\n", + " \n", + " \n", + " Erythromelalgia\n", + " definition of HP:0032147 (Erythromelalgia)\n", + " \n", + " \n", + " Recurrent episodes of redness, burning pain, and warmth of the extremities following exposure to heat or exercise with symptoms predominantly involving the feet.\n", + " definition of HP:0032147 (Erythromelalgia)\n", + " \n", + " \n", + " Cutaneous lichen amyloidosis\n", + " definition of HP:0032346 (Cutaneous lichen amyloidosis)\n", + " \n", + " \n", + " Lichen amyloidosis presents with multiple localized or rarely generalized, hyperpigmented grouped papules with a predilection for the shins, calves, ankles, and dorsa of the feet and thighs.\n", + " definition of HP:0032346 (Cutaneous lichen amyloidosis)\n", + " \n", + " \n", + " Aplasia of the phalanges of the toes\n", + " definition of HP:0010745 (Aplasia of the phalanges of the toes)\n", + " \n", + " \n", + " Absence of a digit or of one or more phalanges of a toe.\n", + " definition of HP:0010745 (Aplasia of the phalanges of the toes)\n", + " \n", + " \n", + " #Absent bones of the toes #Aphalangia of the toes\n", + " definition of HP:0010745 (Aplasia of the phalanges of the toes)\n", + " \n", + " \n", + " Second metatarsal posteriorly placed\n", + " definition of HP:0008125 (Second metatarsal posteriorly placed)\n", + " \n", + " \n", + " Femoral artery duplication\n", + " definition of HP:0034998 (Femoral artery duplication)\n", + " \n", + " \n", + " A developmental defect characterized by the presence of a supernumerary femoral artery.\n", + " definition of HP:0034998 (Femoral artery duplication)\n", + " \n", + " \n", + " Stippled calcification of hand bones\n", + " definition of HP:0004291 (Stippled calcification of hand bones)\n", + " \n", + " \n", + " Triangular shaped 1st metacarpal\n", + " definition of HP:0010033 (Triangular shaped 1st metacarpal)\n", + " \n", + " \n", + " This term applies to a triangular shaped 1st metacarpal.\n", + " definition of HP:0010033 (Triangular shaped 1st metacarpal)\n", + " \n", + " \n", + " #Triangular shaped 1st long bone of hand\n", + " definition of HP:0010033 (Triangular shaped 1st metacarpal)\n", + " \n", + " \n", + " Abnormality of the reflex of the tensor tympani muscle\n", + " definition of HP:0040120 (Abnormality of the reflex of the tensor tympani muscle)\n", + " \n", + " \n", + " Increased cup-to-disc ratio\n", + " definition of HP:0012796 (Increased cup-to-disc ratio)\n", + " \n", + " \n", + " An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disk. The optic disc has an orange-pink rim with a pale center (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells.\n", + " definition of HP:0012796 (Increased cup-to-disc ratio)\n", + " \n", + " \n", + " #Elevated cup to disc ratio #Elevated cup to disk ratio #Increased cup disc ratio #Increased cup disk ratio #Optic cupping\n", + " definition of HP:0012796 (Increased cup-to-disc ratio)\n", + " \n", + " \n", + " Adducted thumb\n", + " definition of HP:0001181 (Adducted thumb)\n", + " \n", + " \n", + " In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger.\n", + " definition of HP:0001181 (Adducted thumb)\n", + " \n", + " \n", + " #Adducted thumbs #Inward turned thumb #Thumb-in-palm deformity #Thumb-in-palm pattern\n", + " definition of HP:0001181 (Adducted thumb)\n", + " \n", + " \n", + " Camptocormia\n", + " definition of HP:0100595 (Camptocormia)\n", + " \n", + " \n", + " An abnormal forward-flexed posture e.g. forward flexion of the spine, which is noticeable when standing or walking but disappears when lying down. It is becoming an increasingly recognized feature of Parkinson's disease and dystonic disorders.\n", + " definition of HP:0100595 (Camptocormia)\n", + " \n", + " \n", + " Jejunal diverticula\n", + " definition of HP:0004786 (Jejunal diverticula)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the inner ear\n", + " definition of HP:0008774 (Aplasia/Hypoplasia of the inner ear)\n", + " \n", + " \n", + " Aplasia or developmental hypoplasia of the inner ear.\n", + " definition of HP:0008774 (Aplasia/Hypoplasia of the inner ear)\n", + " \n", + " \n", + " #Absent/small inner ear #Absent/underdeveloped inner ear\n", + " definition of HP:0008774 (Aplasia/Hypoplasia of the inner ear)\n", + " \n", + " \n", + " Partial duplication of the phalanges of the 3rd finger\n", + " definition of HP:0009961 (Partial duplication of the phalanges of the 3rd finger)\n", + " \n", + " \n", + " A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 3rd finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.\n", + " definition of HP:0009961 (Partial duplication of the phalanges of the 3rd finger)\n", + " \n", + " \n", + " #Partial duplication of middle finger bones\n", + " definition of HP:0009961 (Partial duplication of the phalanges of the 3rd finger)\n", + " \n", + " \n", + " Short 4th metacarpal\n", + " definition of HP:0010044 (Short 4th metacarpal)\n", + " \n", + " \n", + " Short fourth metacarpal bone.\n", + " definition of HP:0010044 (Short 4th metacarpal)\n", + " \n", + " \n", + " #Hypoplastic fourth metacarpal #Short 4th metacarpals #Short fourth metacarpals #Shortened 4th long bone of hand\n", + " definition of HP:0010044 (Short 4th metacarpal)\n", + " \n", + " \n", + " Osteosclerosis of the radius\n", + " definition of HP:0040061 (Osteosclerosis of the radius)\n", + " \n", + " \n", + " Tangential speech\n", + " definition of HP:0025775 (Tangential speech)\n", + " \n", + " \n", + " Patterns of expressed speech that have many words to describe a feature, but are themselves vague and approximations. The speech does not get to the point, but rather seems to go around and around and is inconcise and difficult to grasp the primary issue or purpose of the communicated words.\n", + " definition of HP:0025775 (Tangential speech)\n", + " \n", + " \n", + " #Circumstantiality #Tangentiality\n", + " definition of HP:0025775 (Tangential speech)\n", + " \n", + " \n", + " Nocturnal lagophthalmos\n", + " definition of HP:0030002 (Nocturnal lagophthalmos)\n", + " \n", + " \n", + " The inability to close the eyelids during sleep.\n", + " definition of HP:0030002 (Nocturnal lagophthalmos)\n", + " \n", + " \n", + " #Eyelids stay open at night #Inability to close the eyelids at night\n", + " definition of HP:0030002 (Nocturnal lagophthalmos)\n", + " \n", + " \n", + " Osteolytic defects of the middle phalanx of the 4th finger\n", + " definition of HP:0009297 (Osteolytic defects of the middle phalanx of the 4th finger)\n", + " \n", + " \n", + " Dissolution or degeneration of bone tissue of the middle phalanx of the 4th finger.\n", + " definition of HP:0009297 (Osteolytic defects of the middle phalanx of the 4th finger)\n", + " \n", + " \n", + " Decreased liver function\n", + " definition of HP:0001410 (Decreased liver function)\n", + " \n", + " \n", + " Reduced ability of the liver to perform its functions.\n", + " definition of HP:0001410 (Decreased liver function)\n", + " \n", + " \n", + " #Decreased liver function #Liver dysfunction\n", + " definition of HP:0001410 (Decreased liver function)\n", + " \n", + " \n", + " Thin corpus callosum\n", + " definition of HP:0033725 (Thin corpus callosum)\n", + " \n", + " \n", + " An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration).\n", + " definition of HP:0033725 (Thin corpus callosum)\n", + " \n", + " \n", + " #Small corpus callosum #Thinning of the corpus callosum\n", + " definition of HP:0033725 (Thin corpus callosum)\n", + " \n", + " \n", + " Decreased HDL3a concentration\n", + " definition of HP:0032429 (Decreased HDL3a concentration)\n", + " \n", + " \n", + " A reduction below the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm.\n", + " definition of HP:0032429 (Decreased HDL3a concentration)\n", + " \n", + " \n", + " Repeated cold water exposure\n", + " definition of HP:6000041 (Repeated cold water exposure)\n", + " \n", + " \n", + " A history of repeated exposure to cold water, as may result, for instance, from surfing, diving, kayaking, or swimming.\n", + " definition of HP:6000041 (Repeated cold water exposure)\n", + " \n", + " \n", + " Anti-enterocyte antibody positivity\n", + " definition of HP:0034070 (Anti-enterocyte antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against enterocytes.\n", + " definition of HP:0034070 (Anti-enterocyte antibody positivity)\n", + " \n", + " \n", + " #AEA\n", + " definition of HP:0034070 (Anti-enterocyte antibody positivity)\n", + " \n", + " \n", + " Pseudoepiphysis of the 1st metatarsal\n", + " definition of HP:0010156 (Pseudoepiphysis of the 1st metatarsal)\n", + " \n", + " \n", + " Abnormal circulating membrane cofactor protein concentration\n", + " definition of HP:0034618 (Abnormal circulating membrane cofactor protein concentration)\n", + " \n", + " \n", + " Concentration of membrane cofactor protein in the blood circulation outside the limits of normal. Membrane cofactor protein (MCP, CD46) is a cell surface complement regulatory protein which acts as a cofactor for the factor I-mediated cleavage of the activated complement components C3b/C4b.\n", + " definition of HP:0034618 (Abnormal circulating membrane cofactor protein concentration)\n", + " \n", + " \n", + " Pubertal developmental failure in females\n", + " definition of HP:0008647 (Pubertal developmental failure in females)\n", + " \n", + " \n", + " Visceral angiomatosis\n", + " definition of HP:0100761 (Visceral angiomatosis)\n", + " \n", + " \n", + " Neonatal bilateral symmetric epileptic spasm\n", + " definition of HP:0032840 (Neonatal bilateral symmetric epileptic spasm)\n", + " \n", + " \n", + " Neonatal bilateral symmetric epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs symmetrically at both sides of the body.\n", + " definition of HP:0032840 (Neonatal bilateral symmetric epileptic spasm)\n", + " \n", + " \n", + " Abnormal fundus autofluorescence imaging\n", + " definition of HP:0030602 (Abnormal fundus autofluorescence imaging)\n", + " \n", + " \n", + " Fundus autofluorescence (FAF) is a non-invasive retinal imaging modality used in clinical practice to provide a density map of lipofuscin, the predominant ocular fluorophore, in the retinal pigment epithelium. Autofluorescent patterns result from the complex interaction of fluorophores such a lipofuscin, which release an autofluorescent signal, and elements such as melanin and rhodopsin, which absorb the excitation beam and attenuate autofluorescence. Other structures such as retinal vessels and the crystalline lens may also influence autofluorescence through blocking and interference.\n", + " definition of HP:0030602 (Abnormal fundus autofluorescence imaging)\n", + " \n", + " \n", + " Pseudoepiphysis of the middle phalanx of the 4th finger\n", + " definition of HP:0009221 (Pseudoepiphysis of the middle phalanx of the 4th finger)\n", + " \n", + " \n", + " A secondary ossification center in the middle phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.\n", + " definition of HP:0009221 (Pseudoepiphysis of the middle phalanx of the 4th finger)\n", + " \n", + " \n", + " Coxa magna\n", + " definition of HP:0003279 (Coxa magna)\n", + " \n", + " \n", + " Widening of the femoral head and neck.\n", + " definition of HP:0003279 (Coxa magna)\n", + " \n", + " \n", + " Diminished health-related quality of life\n", + " definition of HP:0033665 (Diminished health-related quality of life)\n", + " \n", + " \n", + " A reduction in an individual's subjective assessment of his or her sense of well-being and ability to perform social roles.\n", + " definition of HP:0033665 (Diminished health-related quality of life)\n", + " \n", + " \n", + " Recurrent pneumonia\n", + " definition of HP:0006532 (Recurrent pneumonia)\n", + " \n", + " \n", + " An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.\n", + " definition of HP:0006532 (Recurrent pneumonia)\n", + " \n", + " \n", + " #Multiple pulmonary infections #Pneumonia, recurrent #Pneumonia, recurrent episodes #Pulmonary infection #Pulmonary infections #pulmonary infections, recurrent #Recurrent pneumonia #Recurrent pulmonary infections\n", + " definition of HP:0006532 (Recurrent pneumonia)\n", + " \n", + " \n", + " Diffuse alveolar damage\n", + " definition of HP:0033006 (Diffuse alveolar damage)\n", + " \n", + " \n", + " Diffuse alveolar damage (DAD) describes a common histologic injury pattern of the lung. The early stages are characterized by epithelial cell necrosis and sloughing, fibrous exsudate, edema, and hyaline membranes made of surfactant and proteins, filling the alveoli. This results in impaired gas exchange. In later stages, type II cells and myofibroblasts proliferate within the interstitium and airspaces. The corresponding clinical entity is acute respiratory distress syndrome (ARDS). DAD may result from pulmonary drug toxicity, occurs in immunosuppressed, severe viral infections, acute interstial pneumonitis, and crack cocaine inhalation.\n", + " definition of HP:0033006 (Diffuse alveolar damage)\n", + " \n", + " \n", + " Oral melanotic macule\n", + " definition of HP:0032451 (Oral melanotic macule)\n", + " \n", + " \n", + " Flat, distinct, discolored area of oral mucosal membrane less than 1 cm wide not associated with a change in the thickness or texture of the affected mucosal membrane. The lesions are small, solitary, well-circumscribed and often uniformly pigmented.\n", + " definition of HP:0032451 (Oral melanotic macule)\n", + " \n", + " \n", + " #Melanotic macule of oral mucosa\n", + " definition of HP:0032451 (Oral melanotic macule)\n", + " \n", + " \n", + " Bracket epiphysis of the proximal phalanx of the thumb\n", + " definition of HP:0009665 (Bracket epiphysis of the proximal phalanx of the thumb)\n", + " \n", + " \n", + " An abnormality of the proximal phalanx of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.\n", + " definition of HP:0009665 (Bracket epiphysis of the proximal phalanx of the thumb)\n", + " \n", + " \n", + " #Bracket shaped end part of thumb innermost long bone\n", + " definition of HP:0009665 (Bracket epiphysis of the proximal phalanx of the thumb)\n", + " \n", + " \n", + " Morning myoclonic jerks\n", + " definition of HP:0007000 (Morning myoclonic jerks)\n", + " \n", + " \n", + " Iridodonesis\n", + " definition of HP:0100693 (Iridodonesis)\n", + " \n", + " \n", + " Tremulousness of the iris on movement of the eye, occurring in subluxation of the lens.\n", + " definition of HP:0100693 (Iridodonesis)\n", + " \n", + " \n", + " Abnormal telomere morphology\n", + " definition of HP:0031412 (Abnormal telomere morphology)\n", + " \n", + " \n", + " Unilateral wrist flexion contracture\n", + " definition of HP:0012454 (Unilateral wrist flexion contracture)\n", + " \n", + " \n", + " A chronic loss of wrist joint motion on one side only.\n", + " definition of HP:0012454 (Unilateral wrist flexion contracture)\n", + " \n", + " \n", + " Hyperextensibility of the finger joints\n", + " definition of HP:0001187 (Hyperextensibility of the finger joints)\n", + " \n", + " \n", + " The ability of the finger joints to move beyond their normal range of motion.\n", + " definition of HP:0001187 (Hyperextensibility of the finger joints)\n", + " \n", + " \n", + " #Finger joint hyperextensibility #Hyperextensible digits #Hyperextensible finger\n", + " definition of HP:0001187 (Hyperextensibility of the finger joints)\n", + " \n", + " \n", + " Abnormal proportion of class-switched memory B cells\n", + " definition of HP:0030386 (Abnormal proportion of class-switched memory B cells)\n", + " \n", + " \n", + " A deviation of the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM-/IgD-) in circulation relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA.\n", + " definition of HP:0030386 (Abnormal proportion of class-switched memory B cells)\n", + " \n", + " \n", + " #Abnormal proportion of CD19+CD27+IgD- cells\n", + " definition of HP:0030386 (Abnormal proportion of class-switched memory B cells)\n", + " \n", + " \n", + " Numerous pigmented freckles\n", + " definition of HP:0007587 (Numerous pigmented freckles)\n", + " \n", + " \n", + " #Numerous pigmented freckles\n", + " definition of HP:0007587 (Numerous pigmented freckles)\n", + " \n", + " \n", + " Thyroidization-type tubular atrophy\n", + " definition of HP:0032608 (Thyroidization-type tubular atrophy)\n", + " \n", + " \n", + " A type of renal tubular atrophy characterized by a thyroid-like appearance, with small round tubules with markedly flattened, simplified epithelium and uniform intratubular casts.\n", + " definition of HP:0032608 (Thyroidization-type tubular atrophy)\n", + " \n", + " \n", + " Widened atrophic scar\n", + " definition of HP:0031158 (Widened atrophic scar)\n", + " \n", + " \n", + " An atrophic scar (fibrous connective tissue resulting from incomplete healing of a wound) that has stretched (gotten wider), a manifestation of tissue fragility.\n", + " definition of HP:0031158 (Widened atrophic scar)\n", + " \n", + " \n", + " Extra concha fold\n", + " definition of HP:0400002 (Extra concha fold)\n", + " \n", + " \n", + " Folds or ridges within the concha that are distinct from the crus helix.\n", + " definition of HP:0400002 (Extra concha fold)\n", + " \n", + " \n", + " #Concha, Extra Fold\n", + " definition of HP:0400002 (Extra concha fold)\n", + " \n", + " \n", + " Peg-like central prominence of distal tibial metaphyses\n", + " definition of HP:0006423 (Peg-like central prominence of distal tibial metaphyses)\n", + " \n", + " \n", + " Absent antihelix\n", + " definition of HP:0011234 (Absent antihelix)\n", + " \n", + " \n", + " No discernible ridge between concha and triangular fossa and helix.\n", + " definition of HP:0011234 (Absent antihelix)\n", + " \n", + " \n", + " Deja vu aura\n", + " definition of HP:0012005 (Deja vu aura)\n", + " \n", + " \n", + " A subjective feeling that an experience which is occurring for the first time has been experienced before.\n", + " definition of HP:0012005 (Deja vu aura)\n", + " \n", + " \n", + " #Deja vu\n", + " definition of HP:0012005 (Deja vu aura)\n", + " \n", + " \n", + " Nonocclusive coronary artery atherosclerosis\n", + " definition of HP:0012436 (Nonocclusive coronary artery atherosclerosis)\n", + " \n", + " \n", + " Coronary disease that has not progressed to the point of causing significant occlusion (blockage) of the coronary arteries.\n", + " definition of HP:0012436 (Nonocclusive coronary artery atherosclerosis)\n", + " \n", + " \n", + " #Non-occlusive coronary artery disease\n", + " definition of HP:0012436 (Nonocclusive coronary artery atherosclerosis)\n", + " \n", + " \n", + " Plasma/serum xenobiotic\n", + " definition of HP:0500100 (Plasma/serum xenobiotic)\n", + " \n", + " \n", + " Presence of a xenobiotic in plasma and/or serum.\n", + " definition of HP:0500100 (Plasma/serum xenobiotic)\n", + " \n", + " \n", + " Basal ganglia necrosis\n", + " definition of HP:0012128 (Basal ganglia necrosis)\n", + " \n", + " \n", + " Death of cells in the basal ganglia. This finding can be confirmed by autopsy. It can be suspected with hyperintensities within the basal ganglia on FLAIR and T2-sequences on magnetic resonance imaging.\n", + " definition of HP:0012128 (Basal ganglia necrosis)\n", + " \n", + " \n", + " Mild\n", + " definition of HP:0012825 (Mild)\n", + " \n", + " \n", + " Having a relatively minor degree of severity. For quantitative traits, a deviation of between two and three standard deviations from the appropriate population mean.\n", + " definition of HP:0012825 (Mild)\n", + " \n", + " \n", + " #Mild\n", + " definition of HP:0012825 (Mild)\n", + " \n", + " \n", + " Narrow maxilla\n", + " definition of HP:0002010 (Narrow maxilla)\n", + " \n", + " \n", + " #Decreased breadth of upper jaw bones #Decreased transverse dimension of maxilla #Decreased width of maxilla #Decreased width of upper jaw bones #Narrow upper jaw bones #Transverse hypoplasia of maxilla #Transverse maxillary deficiency #Transverse maxillary insufficiency\n", + " definition of HP:0002010 (Narrow maxilla)\n", + " \n", + " \n", + " Ivory epiphyses of the 4th toe\n", + " definition of HP:0100072 (Ivory epiphyses of the 4th toe)\n", + " \n", + " \n", + " Epiphyses of the 4th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.\n", + " definition of HP:0100072 (Ivory epiphyses of the 4th toe)\n", + " \n", + " \n", + " #Increased bone density of end part of the 4th toe bone\n", + " definition of HP:0100072 (Ivory epiphyses of the 4th toe)\n", + " \n", + " \n", + " Parosmia\n", + " definition of HP:0034004 (Parosmia)\n", + " \n", + " \n", + " Misperception of existing odor, that is, distorted or altered olfactory perception in the presence of known stimuli.\n", + " definition of HP:0034004 (Parosmia)\n", + " \n", + " \n", + " Cutaneous macular amyloidosis\n", + " definition of HP:0032347 (Cutaneous macular amyloidosis)\n", + " \n", + " \n", + " A type of cutaneous amyloidosis that is characterized by hyperpigmented patches with indefinite margins composed of grayish brown macules, often with a reticulated or rippled appearance.\n", + " definition of HP:0032347 (Cutaneous macular amyloidosis)\n", + " \n", + " \n", + " #Macular amyloidosis\n", + " definition of HP:0032347 (Cutaneous macular amyloidosis)\n", + " \n", + " \n", + " Abnormal thyroid-stimulating hormone level\n", + " definition of HP:0031097 (Abnormal thyroid-stimulating hormone level)\n", + " \n", + " \n", + " Any deviation from the normal amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland.\n", + " definition of HP:0031097 (Abnormal thyroid-stimulating hormone level)\n", + " \n", + " \n", + " #Abnormal circulating thyrotropin concentration #Abnormal thyrotropin level #Abnormal TSH level\n", + " definition of HP:0031097 (Abnormal thyroid-stimulating hormone level)\n", + " \n", + " \n", + " Irregular epiphyses of the upper limbs\n", + " definition of HP:0003842 (Irregular epiphyses of the upper limbs)\n", + " \n", + " \n", + " #Irregular end part of upper limb bones\n", + " definition of HP:0003842 (Irregular epiphyses of the upper limbs)\n", + " \n", + " \n", + " Exercise-induced rhabdomyolysis\n", + " definition of HP:0009045 (Exercise-induced rhabdomyolysis)\n", + " \n", + " \n", + " Rhabdomyolysis induced by exercise.\n", + " definition of HP:0009045 (Exercise-induced rhabdomyolysis)\n", + " \n", + " \n", + " #Rhabdomyolysis with exercise\n", + " definition of HP:0009045 (Exercise-induced rhabdomyolysis)\n", + " \n", + " \n", + " Thyrotoxicosis with toxic single thyroid nodule\n", + " definition of HP:0011786 (Thyrotoxicosis with toxic single thyroid nodule)\n", + " \n", + " \n", + " Abnormal circulating ferritin concentration\n", + " definition of HP:0040133 (Abnormal circulating ferritin concentration)\n", + " \n", + " \n", + " A deviation from the normal circulating concentration of ferritin. Ferritin concentration can be measured in serum or plasma.\n", + " definition of HP:0040133 (Abnormal circulating ferritin concentration)\n", + " \n", + " \n", + " #Abnormal plasma ferritin #Abnormal serum ferritin\n", + " definition of HP:0040133 (Abnormal circulating ferritin concentration)\n", + " \n", + " \n", + " Laterally curved eyebrow\n", + " definition of HP:0007733 (Laterally curved eyebrow)\n", + " \n", + " \n", + " Dysplastic aortic valve\n", + " definition of HP:0005176 (Dysplastic aortic valve)\n", + " \n", + " \n", + " A congenital malformation of the aortic valve characterized by leaflet deformation.\n", + " definition of HP:0005176 (Dysplastic aortic valve)\n", + " \n", + " \n", + " Decreased circulating norepinephrine concentration\n", + " definition of HP:0034874 (Decreased circulating norepinephrine concentration)\n", + " \n", + " \n", + " Concentration of norepinephrin in the blood circulation below the lower limit of normal.\n", + " definition of HP:0034874 (Decreased circulating norepinephrine concentration)\n", + " \n", + " \n", + " Broad 4th toe\n", + " definition of HP:0100042 (Broad 4th toe)\n", + " \n", + " \n", + " A broad appearance of the fourth toe.\n", + " definition of HP:0100042 (Broad 4th toe)\n", + " \n", + " \n", + " #Broad 4th toe #Wide 4th toe\n", + " definition of HP:0100042 (Broad 4th toe)\n", + " \n", + " \n", + " Multiple cafe-au-lait spots\n", + " definition of HP:0007565 (Multiple cafe-au-lait spots)\n", + " \n", + " \n", + " The presence of six or more cafe-au-lait spots.\n", + " definition of HP:0007565 (Multiple cafe-au-lait spots)\n", + " \n", + " \n", + " Abnormal CSF branched chain amino acid concentration\n", + " definition of HP:0500185 (Abnormal CSF branched chain amino acid concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of branched-chain amino acids in the cerebrospinal fluid.\n", + " definition of HP:0500185 (Abnormal CSF branched chain amino acid concentration)\n", + " \n", + " \n", + " #Abnormal branched-chain amino acid levels in cerbrospinal fluid\n", + " definition of HP:0500185 (Abnormal CSF branched chain amino acid concentration)\n", + " \n", + " \n", + " Trichilemmal cyst\n", + " definition of HP:0025246 (Trichilemmal cyst)\n", + " \n", + " \n", + " Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Trichilemmal cysts are acquired rather than congenital, and tend to appear on the scalp rather than the face, and to be intradermal rather than subcutaneous.\n", + " definition of HP:0025246 (Trichilemmal cyst)\n", + " \n", + " \n", + " #Pilar cyst\n", + " definition of HP:0025246 (Trichilemmal cyst)\n", + " \n", + " \n", + " Vulvar neoplasm\n", + " definition of HP:0030416 (Vulvar neoplasm)\n", + " \n", + " \n", + " A tumor (abnormal growth of tissue) of the female external genital tract (vulva).\n", + " definition of HP:0030416 (Vulvar neoplasm)\n", + " \n", + " \n", + " #Neoplasm of the vulva #Tumor of the vulva #Tumour of the vulva\n", + " definition of HP:0030416 (Vulvar neoplasm)\n", + " \n", + " \n", + " Abnormal sexual behavior\n", + " definition of HP:0008768 (Abnormal sexual behavior)\n", + " \n", + " \n", + " A deviation of sexual behaviors from the personal norms of the individual in the context of socially and culturally recognized patterns of human sexual behaviors.\n", + " definition of HP:0008768 (Abnormal sexual behavior)\n", + " \n", + " \n", + " #Inappropriate sexual behavior #Inappropriate sexual behaviour\n", + " definition of HP:0008768 (Abnormal sexual behavior)\n", + " \n", + " \n", + " Unilateral renal atrophy\n", + " definition of HP:0008717 (Unilateral renal atrophy)\n", + " \n", + " \n", + " A unilateral form of atrophy of the kidney.\n", + " definition of HP:0008717 (Unilateral renal atrophy)\n", + " \n", + " \n", + " #Kidney degeneration on one side #Unilateral kidney wasting\n", + " definition of HP:0008717 (Unilateral renal atrophy)\n", + " \n", + " \n", + " Focal impaired awareness sexual automatism seizure\n", + " definition of HP:0032925 (Focal impaired awareness sexual automatism seizure)\n", + " \n", + " \n", + " A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by involuntary sexual behavior at onset.\n", + " definition of HP:0032925 (Focal impaired awareness sexual automatism seizure)\n", + " \n", + " \n", + " Streak ovary\n", + " definition of HP:0010464 (Streak ovary)\n", + " \n", + " \n", + " A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells.\n", + " definition of HP:0010464 (Streak ovary)\n", + " \n", + " \n", + " Abnormality of the proximal phalanx of the 4th finger\n", + " definition of HP:0009284 (Abnormality of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " #Abnormal innermost bone of ring finger #Abnormality of the proximal phalanx of the ring finger\n", + " definition of HP:0009284 (Abnormality of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " Terminal insomnia\n", + " definition of HP:0031356 (Terminal insomnia)\n", + " \n", + " \n", + " A type of insomnia characterized by waking up too early in the morning is known as early morning awakening. The termination of sleep must occur at least 30 minutes before the desired time.\n", + " definition of HP:0031356 (Terminal insomnia)\n", + " \n", + " \n", + " #Early morning awakening #Late insomnia\n", + " definition of HP:0031356 (Terminal insomnia)\n", + " \n", + " \n", + " Fragmentation of the epiphysis of the proximal phalanx of the hallux\n", + " definition of HP:0010131 (Fragmentation of the epiphysis of the proximal phalanx of the hallux)\n", + " \n", + " \n", + " #Fragmentation of the end part of the innermost bone of the big toe\n", + " definition of HP:0010131 (Fragmentation of the epiphysis of the proximal phalanx of the hallux)\n", + " \n", + " \n", + " Abnormality of the tongue\n", + " definition of HP:0000157 (Abnormality of the tongue)\n", + " \n", + " \n", + " Any abnormality of the tongue.\n", + " definition of HP:0000157 (Abnormality of the tongue)\n", + " \n", + " \n", + " #Abnormal tongue #Abnormality of the tongue #Glossal abnormality #Lingual abnormality #Tongue abnormality\n", + " definition of HP:0000157 (Abnormality of the tongue)\n", + " \n", + " \n", + " Absolute eccentric fixation\n", + " definition of HP:0500072 (Absolute eccentric fixation)\n", + " \n", + " \n", + " Eccentric fixation in which the angle of eccentricity equals the objective angle of deviation.\n", + " definition of HP:0500072 (Absolute eccentric fixation)\n", + " \n", + " \n", + " Broad phalanx\n", + " definition of HP:0006009 (Broad phalanx)\n", + " \n", + " \n", + " Increased side-to-side width of one or more phalanges of the fingers or toes.\n", + " definition of HP:0006009 (Broad phalanx)\n", + " \n", + " \n", + " #Broad phalanges #Wide digital bones #Wide phalanges #Widened phalanges\n", + " definition of HP:0006009 (Broad phalanx)\n", + " \n", + " \n", + " Intramuscular Myxoma\n", + " definition of HP:0031461 (Intramuscular Myxoma)\n", + " \n", + " \n", + " A benign tumor that is usually solitary, painless, palpable mass that is firm in consistency and slightly movable and often fluctuant. It can occur in any location, but tends to involve the muscles of the thighs, buttocks, and shoulders. On microscopic examination, there is abundant mucoid material and relative hypo cellularity and loose reticulin fibers. Vascular structures are sparse. The cells have a stellate shape with small hyper chromatic pyknotic nuclei and scanty cytoplasm. Some myxomas may show focal areas of hyper cellularity. However absence of nuclear atypia, mitotic figures or necrosis helps to rule out malignancy.\n", + " definition of HP:0031461 (Intramuscular Myxoma)\n", + " \n", + " \n", + " #IM Myxoma\n", + " definition of HP:0031461 (Intramuscular Myxoma)\n", + " \n", + " \n", + " Pancreatic atrophy\n", + " definition of HP:6000156 (Pancreatic atrophy)\n", + " \n", + " \n", + " Wasting (shrinking) of the pancreas.\n", + " definition of HP:6000156 (Pancreatic atrophy)\n", + " \n", + " \n", + " Abnormal drug response\n", + " definition of HP:0020169 (Abnormal drug response)\n", + " \n", + " \n", + " An anomalous response to a medication related to individual variation in metabolic or immune response to drugs varying from potentially from potentially life-threatening adverse drug reactions to alteration of therapeutic efficacy.\n", + " definition of HP:0020169 (Abnormal drug response)\n", + " \n", + " \n", + " Inferior retinal coloboma\n", + " definition of HP:0031614 (Inferior retinal coloboma)\n", + " \n", + " \n", + " A notch or cleft of the lower part of the retina.\n", + " definition of HP:0031614 (Inferior retinal coloboma)\n", + " \n", + " \n", + " Abnormality of the breast\n", + " definition of HP:0000769 (Abnormality of the breast)\n", + " \n", + " \n", + " An abnormality of the breast.\n", + " definition of HP:0000769 (Abnormality of the breast)\n", + " \n", + " \n", + " #Abnormality of the breast\n", + " definition of HP:0000769 (Abnormality of the breast)\n", + " \n", + " \n", + " Elevated circulating 3-hydroxyhexanoylcarnitine concentration\n", + " definition of HP:0035029 (Elevated circulating 3-hydroxyhexanoylcarnitine concentration)\n", + " \n", + " \n", + " Concentration of 3-hydroxyhexanoylcarnitine (C6-OH) in the blood circulation above the upper limit of normal.\n", + " definition of HP:0035029 (Elevated circulating 3-hydroxyhexanoylcarnitine concentration)\n", + " \n", + " \n", + " #Elevating circulating C6-OH acylcarnitine concentration\n", + " definition of HP:0035029 (Elevated circulating 3-hydroxyhexanoylcarnitine concentration)\n", + " \n", + " \n", + " Vein of Galen aneurysmal malformation\n", + " definition of HP:0030713 (Vein of Galen aneurysmal malformation)\n", + " \n", + " \n", + " Vein of Galen aneurysmal malformation is a choroidal type of arteriovenous malformation that develops between 6 and 11 weeks of gestation. It results from 1 or more arteriovenous fistulas shunting blood toward the prosencephalic vein of Markowski, the embryonic precursor of the vein of Galen. This abnormal shunt leads to progressive dilation of the vein and prevents its involution and subsequent development into the vein of Galen.\n", + " definition of HP:0030713 (Vein of Galen aneurysmal malformation)\n", + " \n", + " \n", + " #Median prosencephalic arteriovenous fistula #Vein of Galen aneurysm #Vein of Galen malformation\n", + " definition of HP:0030713 (Vein of Galen aneurysmal malformation)\n", + " \n", + " \n", + " Type II truncus arteriosus\n", + " definition of HP:0011608 (Type II truncus arteriosus)\n", + " \n", + " \n", + " Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with each pulmonary artery arising separate from each other on the posterior or lateral aspect of the truncus.\n", + " definition of HP:0011608 (Type II truncus arteriosus)\n", + " \n", + " \n", + " #Persistent truncus arteriosus type II #Type 2 truncus arteriosus\n", + " definition of HP:0011608 (Type II truncus arteriosus)\n", + " \n", + " \n", + " Osseous syndactyly of toes\n", + " definition of HP:0010717 (Osseous syndactyly of toes)\n", + " \n", + " \n", + " Webbing or fusion of the toes, involving soft parts and including fusion of individual bones of the toes. Bony fusions are referred to as \\"bony\\" Syndactyly if the fusion occurs in a tibial-fibular axis. Fusions of bones of the toes in a proximo-distal axis are referred to as \\"Symphalangism\\".\n", + " definition of HP:0010717 (Osseous syndactyly of toes)\n", + " \n", + " \n", + " #Osseous syndactyly of the toes\n", + " definition of HP:0010717 (Osseous syndactyly of toes)\n", + " \n", + " \n", + " Irregular epiphysis of the middle phalanx of the 5th finger\n", + " definition of HP:0009208 (Irregular epiphysis of the middle phalanx of the 5th finger)\n", + " \n", + " \n", + " Irregular radiographic opacity of the epiphysis of the middle phalanx of the 5th finger.\n", + " definition of HP:0009208 (Irregular epiphysis of the middle phalanx of the 5th finger)\n", + " \n", + " \n", + " #Irregular end part of the middle bone of the little finger #Irregular end part of the middle bone of the pinkie finger #Irregular end part of the middle bone of the pinky finger\n", + " definition of HP:0009208 (Irregular epiphysis of the middle phalanx of the 5th finger)\n", + " \n", + " \n", + " Abnormality of the epiphysis of the proximal phalanx of the 2nd toe\n", + " definition of HP:0100090 (Abnormality of the epiphysis of the proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Abnormality of the end part of the innermost bone of the 2nd toe\n", + " definition of HP:0100090 (Abnormality of the epiphysis of the proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Cardiac valve calcification\n", + " definition of HP:0005146 (Cardiac valve calcification)\n", + " \n", + " \n", + " Abnormal calcification of a cardiac valve.\n", + " definition of HP:0005146 (Cardiac valve calcification)\n", + " \n", + " \n", + " #Calcifications of the cardiac valves\n", + " definition of HP:0005146 (Cardiac valve calcification)\n", + " \n", + " \n", + " Histiocytosis\n", + " definition of HP:0100727 (Histiocytosis)\n", + " \n", + " \n", + " An excessive number of histiocytes (tissue macrophages).\n", + " definition of HP:0100727 (Histiocytosis)\n", + " \n", + " \n", + " Anti-GT1a IgG antibody positivity\n", + " definition of HP:0034130 (Anti-GT1a IgG antibody positivity)\n", + " \n", + " \n", + " The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against T1a ganglioside.\n", + " definition of HP:0034130 (Anti-GT1a IgG antibody positivity)\n", + " \n", + " \n", + " Reduced factor VIII activity\n", + " definition of HP:0003125 (Reduced factor VIII activity)\n", + " \n", + " \n", + " Reduced activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.\n", + " definition of HP:0003125 (Reduced factor VIII activity)\n", + " \n", + " \n", + " Abnormal lymph-node follicle architecture\n", + " definition of HP:0020242 (Abnormal lymph-node follicle architecture)\n", + " \n", + " \n", + " Any phenotypic abnormality of the architecture of follicles of a lymph node.\n", + " definition of HP:0020242 (Abnormal lymph-node follicle architecture)\n", + " \n", + " \n", + " #Abnormal follicular lymph-node architecture\n", + " definition of HP:0020242 (Abnormal lymph-node follicle architecture)\n", + " \n", + " \n", + " Abnormality of central retinal artery\n", + " definition of HP:3000032 (Abnormality of central retinal artery)\n", + " \n", + " \n", + " An abnormality of a central retinal artery.\n", + " definition of HP:3000032 (Abnormality of central retinal artery)\n", + " \n", + " \n", + " Abnormal diminished volition\n", + " definition of HP:0000745 (Abnormal diminished volition)\n", + " \n", + " \n", + " A reduction in willful and motivated goal-directed behavior that is considered the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action.\n", + " definition of HP:0000745 (Abnormal diminished volition)\n", + " \n", + " \n", + " #Diminished energy #Diminished motivation #Diminished volitional state #Lack of initiative #Lack of motivation #Lacking in initiative #Lacks initiative\n", + " definition of HP:0000745 (Abnormal diminished volition)\n", + " \n", + " \n", + " Blind vagina\n", + " definition of HP:0040314 (Blind vagina)\n", + " \n", + " \n", + " The vagina ends in a blind pouch or sac rather than being connected to the internal genitalia.\n", + " definition of HP:0040314 (Blind vagina)\n", + " \n", + " \n", + " #Blind-ended vagina\n", + " definition of HP:0040314 (Blind vagina)\n", + " \n", + " \n", + " Depletion of mitochondrial DNA in muscle tissue\n", + " definition of HP:0009141 (Depletion of mitochondrial DNA in muscle tissue)\n", + " \n", + " \n", + " #Depletion of mitochondrial dna in skeletal muscle tissue\n", + " definition of HP:0009141 (Depletion of mitochondrial DNA in muscle tissue)\n", + " \n", + " \n", + " Increased anti-fungi IgE antibody level\n", + " definition of HP:0410232 (Increased anti-fungi IgE antibody level)\n", + " \n", + " \n", + " Increased level of IgE antibody against fungus, such as molds like zygomycota, ascomycota and deuteromycota.\n", + " definition of HP:0410232 (Increased anti-fungi IgE antibody level)\n", + " \n", + " \n", + " #Increased anti-fungal IgE antibody level #Increased anti-fungus IgE antibody level\n", + " definition of HP:0410232 (Increased anti-fungi IgE antibody level)\n", + " \n", + " \n", + " Poikilocytosis\n", + " definition of HP:0004447 (Poikilocytosis)\n", + " \n", + " \n", + " The presence of abnormally shaped erythrocytes.\n", + " definition of HP:0004447 (Poikilocytosis)\n", + " \n", + " \n", + " Prominent styloid process of ulna\n", + " definition of HP:0004981 (Prominent styloid process of ulna)\n", + " \n", + " \n", + " Congenital exfoliative erythroderma\n", + " definition of HP:0007381 (Congenital exfoliative erythroderma)\n", + " \n", + " \n", + " Hypoplastic optic chiasm\n", + " definition of HP:0034311 (Hypoplastic optic chiasm)\n", + " \n", + " \n", + " Developmental defect characterized by undergrowth of the optic chiasm.\n", + " definition of HP:0034311 (Hypoplastic optic chiasm)\n", + " \n", + " \n", + " #Optic chiasm hypoplasia\n", + " definition of HP:0034311 (Hypoplastic optic chiasm)\n", + " \n", + " \n", + " Recurrent opportunistic infections\n", + " definition of HP:0005390 (Recurrent opportunistic infections)\n", + " \n", + " \n", + " Increased susceptibility to opportunistic infections, as manifested by recurrent episodes of infection by opportunistic agents, i.e., by microorganisms that do not usually cause disease in a healthy host, but are able to infect a host with a compromised immune system.\n", + " definition of HP:0005390 (Recurrent opportunistic infections)\n", + " \n", + " \n", + " #Frequent opportunistic infections\n", + " definition of HP:0005390 (Recurrent opportunistic infections)\n", + " \n", + " \n", + " Missing ribs\n", + " definition of HP:0000921 (Missing ribs)\n", + " \n", + " \n", + " A developmental anomaly with absence of one or more ribs.\n", + " definition of HP:0000921 (Missing ribs)\n", + " \n", + " \n", + " #Absent ribs #Decreased rib number #Missing ribs\n", + " definition of HP:0000921 (Missing ribs)\n", + " \n", + " \n", + " Abnormality of the upper respiratory tract\n", + " definition of HP:0002087 (Abnormality of the upper respiratory tract)\n", + " \n", + " \n", + " An abnormality of the upper respiratory tract.\n", + " definition of HP:0002087 (Abnormality of the upper respiratory tract)\n", + " \n", + " \n", + " #Abnormality of the upper respiratory tract #Upper respiratory tract issues\n", + " definition of HP:0002087 (Abnormality of the upper respiratory tract)\n", + " \n", + " \n", + " Adverse drug response\n", + " definition of HP:0020172 (Adverse drug response)\n", + " \n", + " \n", + " An unpleasant or harmful reaction resulting from treatment with a drug.\n", + " definition of HP:0020172 (Adverse drug response)\n", + " \n", + " \n", + " #Adverse drug reaction #Drug-induced reaction #Drug-induced response #Toxic drug response\n", + " definition of HP:0020172 (Adverse drug response)\n", + " \n", + " \n", + " Past surgical history\n", + " definition of HP:0430103 (Past surgical history)\n", + " \n", + " \n", + " information about the patient's previous surgical treatments that might be relevant to the presenting illness or to provide optimal clinical management.\n", + " definition of HP:0430103 (Past surgical history)\n", + " \n", + " \n", + " Megaloblastic bone marrow\n", + " definition of HP:0001980 (Megaloblastic bone marrow)\n", + " \n", + " \n", + " Abnormal increased number of megaloblasts in the bone marrow.\n", + " definition of HP:0001980 (Megaloblastic bone marrow)\n", + " \n", + " \n", + " Amelia involving the lower limbs\n", + " definition of HP:0009818 (Amelia involving the lower limbs)\n", + " \n", + " \n", + " Complete or near-complete absence of a leg.\n", + " definition of HP:0009818 (Amelia involving the lower limbs)\n", + " \n", + " \n", + " Triangular shaped distal phalanges of the hand\n", + " definition of HP:0009875 (Triangular shaped distal phalanges of the hand)\n", + " \n", + " \n", + " #Triangular shaped outermost bone of the hand\n", + " definition of HP:0009875 (Triangular shaped distal phalanges of the hand)\n", + " \n", + " \n", + " Osteolytic defects of the distal phalanx of the 4th finger\n", + " definition of HP:0009303 (Osteolytic defects of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " Dissolution or degeneration of bone tissue of the distal phalanx of the 4th finger.\n", + " definition of HP:0009303 (Osteolytic defects of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " Generalized abnormality of skin\n", + " definition of HP:0011354 (Generalized abnormality of skin)\n", + " \n", + " \n", + " An abnormality of the skin that is not localized to any one particular region.\n", + " definition of HP:0011354 (Generalized abnormality of skin)\n", + " \n", + " \n", + " #Generalised abnormality of skin #Generalized abnormality of skin\n", + " definition of HP:0011354 (Generalized abnormality of skin)\n", + " \n", + " \n", + " Abnormal ulnar epiphysis morphology\n", + " definition of HP:0004037 (Abnormal ulnar epiphysis morphology)\n", + " \n", + " \n", + " #Abnormality of the epiphyseal plate of the ulna #Abnormality of the ulnar epiphyses\n", + " definition of HP:0004037 (Abnormal ulnar epiphysis morphology)\n", + " \n", + " \n", + " Abnormal dentin morphology\n", + " definition of HP:0010299 (Abnormal dentin morphology)\n", + " \n", + " \n", + " Any abnormality of dentin.\n", + " definition of HP:0010299 (Abnormal dentin morphology)\n", + " \n", + " \n", + " #Abnormal dentin #Abnormality of dentin #Abnormality of dentine #Dentin anomaly\n", + " definition of HP:0010299 (Abnormal dentin morphology)\n", + " \n", + " \n", + " Abnormal metacarpal ossification\n", + " definition of HP:6000651 (Abnormal metacarpal ossification)\n", + " \n", + " \n", + " Any abnormal process of ossification of the metacarpal bones, which normally are each ossified from two centers: one for the body, and one for the head (metacarpal II,III,IV, and V) and one for the body and one for the base (metacarpal I). At the eighth to ninth week of fetal life, ossification commences in the middle of the body. At the third year the distal extremities of the metacarpals of the fingers and the base of the metacarpal of the thumb begin to ossify; they unite with the bodies at about the twentieth year.\n", + " definition of HP:6000651 (Abnormal metacarpal ossification)\n", + " \n", + " \n", + " #Abnormal maturation of long bone of hand #Abnormal ossification involving metacarpal bones\n", + " definition of HP:6000651 (Abnormal metacarpal ossification)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the phalanges of the 4th finger\n", + " definition of HP:0009408 (Aplasia/Hypoplasia of the phalanges of the 4th finger)\n", + " \n", + " \n", + " #Absent/small ring finger bones #Absent/underdeveloped ring finger bones\n", + " definition of HP:0009408 (Aplasia/Hypoplasia of the phalanges of the 4th finger)\n", + " \n", + " \n", + " Normocytic hypoplastic anemia\n", + " definition of HP:0004819 (Normocytic hypoplastic anemia)\n", + " \n", + " \n", + " A type of hypoplastic anemia in which the erythrocytes have a normal cell volume (the mean corpuscular volume is within normal limits).\n", + " definition of HP:0004819 (Normocytic hypoplastic anemia)\n", + " \n", + " \n", + " #Normocytic hypoplastic anaemia\n", + " definition of HP:0004819 (Normocytic hypoplastic anemia)\n", + " \n", + " \n", + " Hypnagogic hallucination\n", + " definition of HP:0002519 (Hypnagogic hallucination)\n", + " \n", + " \n", + " Hypnagogic hallucinations are brief hallucinations that occur as you are falling asleep.\n", + " definition of HP:0002519 (Hypnagogic hallucination)\n", + " \n", + " \n", + " #Hallucinations while falling asleep\n", + " definition of HP:0002519 (Hypnagogic hallucination)\n", + " \n", + " \n", + " Anti-GD1b antibody positivity\n", + " definition of HP:0034124 (Anti-GD1b antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside.\n", + " definition of HP:0034124 (Anti-GD1b antibody positivity)\n", + " \n", + " \n", + " Persistent CMV viremia\n", + " definition of HP:0032247 (Persistent CMV viremia)\n", + " \n", + " \n", + " Lasting (uncontrolled) presence of cytomegalovirus in the blood circulation.\n", + " definition of HP:0032247 (Persistent CMV viremia)\n", + " \n", + " \n", + " Neurite dystrophy\n", + " definition of HP:0025713 (Neurite dystrophy)\n", + " \n", + " \n", + " Dystrophic neurites are abnormal neuronal processes characterized microscopically by aberrant sprouting, dystrophic expansion, and accumulation of various cellular organelles and cytoskeletal/signaling proteins.\n", + " definition of HP:0025713 (Neurite dystrophy)\n", + " \n", + " \n", + " #Dystrophic neurite\n", + " definition of HP:0025713 (Neurite dystrophy)\n", + " \n", + " \n", + " Symphalangism affecting the proximal phalanx of the 3rd finger\n", + " definition of HP:0009455 (Symphalangism affecting the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Fusion of the proximal phalanx of the 3rd finger with another bone.\n", + " definition of HP:0009455 (Symphalangism affecting the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Fused innermost bone of middle finger\n", + " definition of HP:0009455 (Symphalangism affecting the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Abnormality of the distal phalanx of the thumb\n", + " definition of HP:0009617 (Abnormality of the distal phalanx of the thumb)\n", + " \n", + " \n", + " Any anomaly of the distal phalanx of thumb.\n", + " definition of HP:0009617 (Abnormality of the distal phalanx of the thumb)\n", + " \n", + " \n", + " #Abnormality of terminal thumb phalanx #Abnormality of the outermost bone of the thumb\n", + " definition of HP:0009617 (Abnormality of the distal phalanx of the thumb)\n", + " \n", + " \n", + " Abnormal fetal nasal bone visualization\n", + " definition of HP:0025705 (Abnormal fetal nasal bone visualization)\n", + " \n", + " \n", + " Abnormal appearance or non-visualization (apparent absence) of the nasal bone of a fetus in first trimester sonographic screening. Assessment of the fetal nasal bone is generally performed at 11-14 weeks gestational age.\n", + " definition of HP:0025705 (Abnormal fetal nasal bone visualization)\n", + " \n", + " \n", + " Generalized-onset epileptic spasm\n", + " definition of HP:0032842 (Generalized-onset epileptic spasm)\n", + " \n", + " \n", + " A type of epileptic spasm of generalized onset.\n", + " definition of HP:0032842 (Generalized-onset epileptic spasm)\n", + " \n", + " \n", + " #Generalised onset epileptic spasm #Generalised-onset epileptic spasm #Generalized onset epileptic spasm\n", + " definition of HP:0032842 (Generalized-onset epileptic spasm)\n", + " \n", + " \n", + " Abnormal circulating metabolite concentration\n", + " definition of HP:0032180 (Abnormal circulating metabolite concentration)\n", + " \n", + " \n", + " An abnormal level of an analyte measured in the blood.\n", + " definition of HP:0032180 (Abnormal circulating metabolite concentration)\n", + " \n", + " \n", + " Pleomorphic cholangitis\n", + " definition of HP:0030990 (Pleomorphic cholangitis)\n", + " \n", + " \n", + " Cholangitis associated with mixed inflammatory infiltrates and the presence of fibrosis or sclerosis of the biliary tree.\n", + " definition of HP:0030990 (Pleomorphic cholangitis)\n", + " \n", + " \n", + " Focal impaired awareness autonomic seizure with pallor/flushing\n", + " definition of HP:0032777 (Focal impaired awareness autonomic seizure with pallor/flushing)\n", + " \n", + " \n", + " A focal autonomic seizure with pallor / flushing characterized by impaired awareness at some point during the seizure.\n", + " definition of HP:0032777 (Focal impaired awareness autonomic seizure with pallor/flushing)\n", + " \n", + " \n", + " Exaggerated cupid's bow\n", + " definition of HP:0002263 (Exaggerated cupid's bow)\n", + " \n", + " \n", + " More pronounced paramedian peaks and median notch of the Cupid's bow.\n", + " definition of HP:0002263 (Exaggerated cupid's bow)\n", + " \n", + " \n", + " #Cupid bow upper lip #Cupid's bow, accentuated #Cupid-bow shaped upper lip #Exaggerated cupid's bow #Prominent cupid-bow of upper lip\n", + " definition of HP:0002263 (Exaggerated cupid's bow)\n", + " \n", + " \n", + " Oral leukoplakia\n", + " definition of HP:0002745 (Oral leukoplakia)\n", + " \n", + " \n", + " A thickened white patch on the oral mucosa that cannot be rubbed off.\n", + " definition of HP:0002745 (Oral leukoplakia)\n", + " \n", + " \n", + " #leukokeratosis #Oral idiopathic keratosis #Oral idiopathic leukoplakia #Oral idiopathic white patch #Oral leucoplakia #Oral leukokeratosis #Oral leukoplasia #Oral white patch #Oral white plaque\n", + " definition of HP:0002745 (Oral leukoplakia)\n", + " \n", + " \n", + " Reversible airflow obstruction\n", + " definition of HP:0033540 (Reversible airflow obstruction)\n", + " \n", + " \n", + " Airflow obstruction with a significant response to a bronchodilator defined as an increase in FEV1 and/or FVC by 12 percent or more and by at least 200 mL.\n", + " definition of HP:0033540 (Reversible airflow obstruction)\n", + " \n", + " \n", + " #Reversible pulmonary obstruction\n", + " definition of HP:0033540 (Reversible airflow obstruction)\n", + " \n", + " \n", + " Apical muscular ventricular septal defect\n", + " definition of HP:0011624 (Apical muscular ventricular septal defect)\n", + " \n", + " \n", + " A muscular ventricular septal defect located at the apex of the heart.\n", + " definition of HP:0011624 (Apical muscular ventricular septal defect)\n", + " \n", + " \n", + " Progressive reticulate hyperpigmentation\n", + " definition of HP:0007456 (Progressive reticulate hyperpigmentation)\n", + " \n", + " \n", + " Bifid first metacarpal\n", + " definition of HP:0009616 (Bifid first metacarpal)\n", + " \n", + " \n", + " Partial duplication of the first metacarpal bone.\n", + " definition of HP:0009616 (Bifid first metacarpal)\n", + " \n", + " \n", + " #Notched first long bone of hand #partial duplication of the first metacarpal\n", + " definition of HP:0009616 (Bifid first metacarpal)\n", + " \n", + " \n", + " Epileptic spasm\n", + " definition of HP:0011097 (Epileptic spasm)\n", + " \n", + " \n", + " A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: Grimacing, head nodding, or subtle eye movements. Epileptic spasms frequently occur in clusters. Infantile spasms are the best known form, but spasms can occur at all ages\n", + " definition of HP:0011097 (Epileptic spasm)\n", + " \n", + " \n", + " #Epileptic spasms #Salaam convulsion #Salaam convulsions #Salaam seizure #Salaam seizures\n", + " definition of HP:0011097 (Epileptic spasm)\n", + " \n", + " \n", + " Hypoplasia of the phalanges of the toes\n", + " definition of HP:0010746 (Hypoplasia of the phalanges of the toes)\n", + " \n", + " \n", + " #Small toe bones\n", + " definition of HP:0010746 (Hypoplasia of the phalanges of the toes)\n", + " \n", + " \n", + " Absent pubertal growth spurt\n", + " definition of HP:0031087 (Absent pubertal growth spurt)\n", + " \n", + " \n", + " The abrupt and transient increase in the annual growth rate normally observed in adolescent individuals does not occur.\n", + " definition of HP:0031087 (Absent pubertal growth spurt)\n", + " \n", + " \n", + " #Absent adolescent growth spurt\n", + " definition of HP:0031087 (Absent pubertal growth spurt)\n", + " \n", + " \n", + " Sclerosis of toe phalanx\n", + " definition of HP:0100924 (Sclerosis of toe phalanx)\n", + " \n", + " \n", + " An elevation in bone density in one or more phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity.\n", + " definition of HP:0100924 (Sclerosis of toe phalanx)\n", + " \n", + " \n", + " #Increased bone density in the toe bone #Sclerosis of the phalanges of the toes\n", + " definition of HP:0100924 (Sclerosis of toe phalanx)\n", + " \n", + " \n", + " Focal T2 hypointense basal ganglia lesion\n", + " definition of HP:0012752 (Focal T2 hypointense basal ganglia lesion)\n", + " \n", + " \n", + " A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hypointensity affecting a particular region of the basal ganglia.\n", + " definition of HP:0012752 (Focal T2 hypointense basal ganglia lesion)\n", + " \n", + " \n", + " Curved proximal phalanx of the 5th toe\n", + " definition of HP:0100448 (Curved proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " A deviation from the normal straight form of the proximal phalanx of the fifth toe.\n", + " definition of HP:0100448 (Curved proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " #Curved innermost little toe bone #Curved innermost pinkie toe bone #Curved innermost pinky toe bone\n", + " definition of HP:0100448 (Curved proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " Bilateral microphthalmos\n", + " definition of HP:0007633 (Bilateral microphthalmos)\n", + " \n", + " \n", + " A developmental anomaly characterized by abnormal smallness of both eyes.\n", + " definition of HP:0007633 (Bilateral microphthalmos)\n", + " \n", + " \n", + " #Abnormally small eyeball on both sides #Microphthalmia, bilateral\n", + " definition of HP:0007633 (Bilateral microphthalmos)\n", + " \n", + " \n", + " Decreased circulating alpha-fetoprotein concentration\n", + " definition of HP:0045057 (Decreased circulating alpha-fetoprotein concentration)\n", + " \n", + " \n", + " Concentration of alpha-fetoprotein in the blood circulation below the lower limit of normal.\n", + " definition of HP:0045057 (Decreased circulating alpha-fetoprotein concentration)\n", + " \n", + " \n", + " Undermodelled forearm bones\n", + " definition of HP:0003970 (Undermodelled forearm bones)\n", + " \n", + " \n", + " Pes cavus\n", + " definition of HP:0001761 (Pes cavus)\n", + " \n", + " \n", + " An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).\n", + " definition of HP:0001761 (Pes cavus)\n", + " \n", + " \n", + " #Cavus foot #High-arched foot\n", + " definition of HP:0001761 (Pes cavus)\n", + " \n", + " \n", + " Focal impaired awareness cognitive seizure with deja vu/jamais vu\n", + " definition of HP:0032882 (Focal impaired awareness cognitive seizure with deja vu/jamais vu)\n", + " \n", + " \n", + " A focal cognitive seizure with deja vu / jamais vu characterized by impairment of awareness at some point during the seizure.\n", + " definition of HP:0032882 (Focal impaired awareness cognitive seizure with deja vu/jamais vu)\n", + " \n", + " \n", + " Triangular epiphysis of the proximal phalanx of the 2nd toe\n", + " definition of HP:0100132 (Triangular epiphysis of the proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Triangular end part of the innermost bone of the 2nd toe\n", + " definition of HP:0100132 (Triangular epiphysis of the proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Aplasia/Hypoplasia involving the nose\n", + " definition of HP:0009924 (Aplasia/Hypoplasia involving the nose)\n", + " \n", + " \n", + " Underdevelopment or absence of the nose or parts thereof.\n", + " definition of HP:0009924 (Aplasia/Hypoplasia involving the nose)\n", + " \n", + " \n", + " #Decreased nasal size #Decreased size of nose\n", + " definition of HP:0009924 (Aplasia/Hypoplasia involving the nose)\n", + " \n", + " \n", + " Delayed ossification of the hand bones\n", + " definition of HP:0004052 (Delayed ossification of the hand bones)\n", + " \n", + " \n", + " Ossification of hand bones is less advanced than would be expected according to age-adjusted norms.\n", + " definition of HP:0004052 (Delayed ossification of the hand bones)\n", + " \n", + " \n", + " #Delay maturation/delayed ossification of the hand\n", + " definition of HP:0004052 (Delayed ossification of the hand bones)\n", + " \n", + " \n", + " Brachial plexus neuropathy\n", + " definition of HP:0045054 (Brachial plexus neuropathy)\n", + " \n", + " \n", + " Motor polyneuropathy\n", + " definition of HP:0007178 (Motor polyneuropathy)\n", + " \n", + " \n", + " #Peripheral motor neuropathy\n", + " definition of HP:0007178 (Motor polyneuropathy)\n", + " \n", + " \n", + " Areflexia of upper limbs\n", + " definition of HP:0012046 (Areflexia of upper limbs)\n", + " \n", + " \n", + " Inability to elicit tendon reflexes in the upper limbs.\n", + " definition of HP:0012046 (Areflexia of upper limbs)\n", + " \n", + " \n", + " Ameliorated by potassium supplements\n", + " definition of HP:4000174 (Ameliorated by potassium supplements)\n", + " \n", + " \n", + " Applies to a sign or symptom that is improved or made more bearable by ingesting a potassium supplement.\n", + " definition of HP:4000174 (Ameliorated by potassium supplements)\n", + " \n", + " \n", + " #Potassium supplements alleviate attacks\n", + " definition of HP:4000174 (Ameliorated by potassium supplements)\n", + " \n", + " \n", + " Copper accumulation in brain\n", + " definition of HP:0012676 (Copper accumulation in brain)\n", + " \n", + " \n", + " An anomalous build up of copper (Cu) in the brain.\n", + " definition of HP:0012676 (Copper accumulation in brain)\n", + " \n", + " \n", + " #Brain copper accumulation #Copper accumulation in brain\n", + " definition of HP:0012676 (Copper accumulation in brain)\n", + " \n", + " \n", + " Elevated circulating dihydroxyphenylacetic acid concentration\n", + " definition of HP:6000234 (Elevated circulating dihydroxyphenylacetic acid concentration)\n", + " \n", + " \n", + " The concentration of dihydroxyphenylacetic acid in the blood circulation is above the upper limit of normal.\n", + " definition of HP:6000234 (Elevated circulating dihydroxyphenylacetic acid concentration)\n", + " \n", + " \n", + " #Elevated circulating DOPAC concentration\n", + " definition of HP:6000234 (Elevated circulating dihydroxyphenylacetic acid concentration)\n", + " \n", + " \n", + " Diminished physical functioning\n", + " definition of HP:0033666 (Diminished physical functioning)\n", + " \n", + " \n", + " A reduction in the ability to perform activities of daily living as compared to previous abilities because of functional deficits due to illness. The 36-item Short Form (SF-36) health survey questionnaire is one of many methods used to measure patients' perceptions of diminished physical functioning.\n", + " definition of HP:0033666 (Diminished physical functioning)\n", + " \n", + " \n", + " #Decline in physical functional health #Diminished physical health\n", + " definition of HP:0033666 (Diminished physical functioning)\n", + " \n", + " \n", + " Decreased activity of mitochondrial complex II\n", + " definition of HP:0008314 (Decreased activity of mitochondrial complex II)\n", + " \n", + " \n", + " A reduction in the activity of the mitochondrial respiratory chain complex II, which is part of the electron transport chain in mitochondria.\n", + " definition of HP:0008314 (Decreased activity of mitochondrial complex II)\n", + " \n", + " \n", + " Calcified placenta\n", + " definition of HP:0011415 (Calcified placenta)\n", + " \n", + " \n", + " #Placental calcification\n", + " definition of HP:0011415 (Calcified placenta)\n", + " \n", + " \n", + " Focal aware head nodding automatism seizure\n", + " definition of HP:0032919 (Focal aware head nodding automatism seizure)\n", + " \n", + " \n", + " A type of focal automatism seizure characterized by involuntary head nodding at onset and during which awareness is fully retained throughout.\n", + " definition of HP:0032919 (Focal aware head nodding automatism seizure)\n", + " \n", + " \n", + " Increased vertical cup-to-disc ratio - 1.0\n", + " definition of HP:0031978 (Increased vertical cup-to-disc ratio - 1.0)\n", + " \n", + " \n", + " Ratio of the height of the cup of the optic nerve head to the height of the disk is 1.0 (The normal cup-to-disc ratio is 0.3).\n", + " definition of HP:0031978 (Increased vertical cup-to-disc ratio - 1.0)\n", + " \n", + " \n", + " Arcuate artery intima/media arteriitis\n", + " definition of HP:0033948 (Arcuate artery intima/media arteriitis)\n", + " \n", + " \n", + " Inflammation of the inner or middle layer of the arcuate arteries of the kidney.\n", + " definition of HP:0033948 (Arcuate artery intima/media arteriitis)\n", + " \n", + " \n", + " #Arteritis within arcuate arterial intima/media\n", + " definition of HP:0033948 (Arcuate artery intima/media arteriitis)\n", + " \n", + " \n", + " Spastic triplegia\n", + " definition of HP:0034183 (Spastic triplegia)\n", + " \n", + " \n", + " Spastic weakness found in both lower extremities and one upper extremity.\n", + " definition of HP:0034183 (Spastic triplegia)\n", + " \n", + " \n", + " Slit-like lateral ventricle\n", + " definition of HP:6000989 (Slit-like lateral ventricle)\n", + " \n", + " \n", + " Abnormally small lateral ventricle with a slit-like appearance.\n", + " definition of HP:6000989 (Slit-like lateral ventricle)\n", + " \n", + " \n", + " Spondyloepiphyseal dysplasia\n", + " definition of HP:0002655 (Spondyloepiphyseal dysplasia)\n", + " \n", + " \n", + " A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses).\n", + " definition of HP:0002655 (Spondyloepiphyseal dysplasia)\n", + " \n", + " \n", + " Elevated red cell pyruvate kinase activity\n", + " definition of HP:6000561 (Elevated red cell pyruvate kinase activity)\n", + " \n", + " \n", + " Activity or concentration of pyruvate kinase (EC 2.7.1.40) in erythrocytes above the upper limit of normal. Pyruvate kinase (EC 2.7.1.40) is a glycolytic enzyme that catalyzes the transphosphorylation from phosphoenolpyruvate (PEP) to ADP, yielding pyruvate and ATP.\n", + " definition of HP:6000561 (Elevated red cell pyruvate kinase activity)\n", + " \n", + " \n", + " Fractured shoulder bone\n", + " definition of HP:0041245 (Fractured shoulder bone)\n", + " \n", + " \n", + " A partial or complete breakage of a shoulder bone.\n", + " definition of HP:0041245 (Fractured shoulder bone)\n", + " \n", + " \n", + " #bone shoulder bone\n", + " definition of HP:0041245 (Fractured shoulder bone)\n", + " \n", + " \n", + " Short proximal phalanx of the 4th finger\n", + " definition of HP:0009301 (Short proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " Hypoplastic/small proximal phalanx of the fourth finger.\n", + " definition of HP:0009301 (Short proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " #Hypoplastic/small proximal phalanx of the 4th finger #Short innermost bone of the ring finger #Short proximal phalanx of the fourth finger\n", + " definition of HP:0009301 (Short proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " EEG with spike-wave complexes\n", + " definition of HP:0010850 (EEG with spike-wave complexes)\n", + " \n", + " \n", + " Complexes of spikes (<70 ms) and sharp waves (70-200 ms), which are sharp transient waves that have a strong association with epilepsy, in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).\n", + " definition of HP:0010850 (EEG with spike-wave complexes)\n", + " \n", + " \n", + " Unguarded tricuspid valve\n", + " definition of HP:0030719 (Unguarded tricuspid valve)\n", + " \n", + " \n", + " A form of agenesis of the tricuspid valve in which (although the normal orifice between the right atrium and right ventricle exists) there is no tricuspid valvular tissue.\n", + " definition of HP:0030719 (Unguarded tricuspid valve)\n", + " \n", + " \n", + " #Rudimentary tricuspid valve leaflets #Unguarded tricuspid valve orifice\n", + " definition of HP:0030719 (Unguarded tricuspid valve)\n", + " \n", + " \n", + " Marginal corneal dystrophy\n", + " definition of HP:0007880 (Marginal corneal dystrophy)\n", + " \n", + " \n", + " Dysgyria with normal cortical thickness\n", + " definition of HP:0032399 (Dysgyria with normal cortical thickness)\n", + " \n", + " \n", + " An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation but with a normal thickness of the cortex.\n", + " definition of HP:0032399 (Dysgyria with normal cortical thickness)\n", + " \n", + " \n", + " Abnormal vestibular function\n", + " definition of HP:0001751 (Abnormal vestibular function)\n", + " \n", + " \n", + " An abnormality of the functioning of the vestibular apparatus.\n", + " definition of HP:0001751 (Abnormal vestibular function)\n", + " \n", + " \n", + " #Impaired vestibular function #Interictal vestibular dysfunction #Vestibular function defect\n", + " definition of HP:0001751 (Abnormal vestibular function)\n", + " \n", + " \n", + " Partial duplication of the middle phalanx of the 3rd finger\n", + " definition of HP:0009969 (Partial duplication of the middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " Partial duplication of the middle phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx.\n", + " definition of HP:0009969 (Partial duplication of the middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Partial duplication of the middle bone of the 3rd finger\n", + " definition of HP:0009969 (Partial duplication of the middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " Growth abnormality\n", + " definition of HP:0001507 (Growth abnormality)\n", + " \n", + " \n", + " #Abnormal growth #Growth abnormality #Growth issue\n", + " definition of HP:0001507 (Growth abnormality)\n", + " \n", + " \n", + " Eosinophilic dermal infiltration\n", + " definition of HP:0032022 (Eosinophilic dermal infiltration)\n", + " \n", + " \n", + " Presence of abnormally increased amounts of intraepidermal inflammatory cells with a predominance of eosinophils.\n", + " definition of HP:0032022 (Eosinophilic dermal infiltration)\n", + " \n", + " \n", + " #Eosinophilic dermatitis\n", + " definition of HP:0032022 (Eosinophilic dermal infiltration)\n", + " \n", + " \n", + " Broad lateral eyebrow\n", + " definition of HP:0007933 (Broad lateral eyebrow)\n", + " \n", + " \n", + " Regional increase in the width (height) of the lateral eyebrow.\n", + " definition of HP:0007933 (Broad lateral eyebrow)\n", + " \n", + " \n", + " #Lateral eyebrow flare #Wide lateral eyebrow\n", + " definition of HP:0007933 (Broad lateral eyebrow)\n", + " \n", + " \n", + " Pregnancy exposure\n", + " definition of HP:0031437 (Pregnancy exposure)\n", + " \n", + " \n", + " Exposure of pregnant women to toxins from any source, such as environmental toxins or chemicals, that may potentially cause problems such as miscarriage, preterm delivery, low birth weight, and, in some cases, developmental delays in infants.\n", + " definition of HP:0031437 (Pregnancy exposure)\n", + " \n", + " \n", + " #Exposure during pregnancy\n", + " definition of HP:0031437 (Pregnancy exposure)\n", + " \n", + " \n", + " Aortic rupture\n", + " definition of HP:0031649 (Aortic rupture)\n", + " \n", + " \n", + " Tearing of the aortic wall generally associated with profuse internal bleeding.\n", + " definition of HP:0031649 (Aortic rupture)\n", + " \n", + " \n", + " Dystrophic toenail\n", + " definition of HP:0001810 (Dystrophic toenail)\n", + " \n", + " \n", + " Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate.\n", + " definition of HP:0001810 (Dystrophic toenail)\n", + " \n", + " \n", + " #Dystrophic toenail changes #Poor toenail formation\n", + " definition of HP:0001810 (Dystrophic toenail)\n", + " \n", + " \n", + " Postural instability\n", + " definition of HP:0002172 (Postural instability)\n", + " \n", + " \n", + " A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps.\n", + " definition of HP:0002172 (Postural instability)\n", + " \n", + " \n", + " #Balance impairment\n", + " definition of HP:0002172 (Postural instability)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the distal phalanx of the 3rd finger\n", + " definition of HP:0009421 (Aplasia/Hypoplasia of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Absent/small outermost middle finger bone #Absent/underdeveloped outermost middle finger bone\n", + " definition of HP:0009421 (Aplasia/Hypoplasia of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Cranial nerve paralysis\n", + " definition of HP:0006824 (Cranial nerve paralysis)\n", + " \n", + " \n", + " #Cranial nerve palsies #Cranial nerve palsy #Cranial nerve paresis\n", + " definition of HP:0006824 (Cranial nerve paralysis)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the external ear\n", + " definition of HP:0008772 (Aplasia/Hypoplasia of the external ear)\n", + " \n", + " \n", + " The presence of aplasia or developmental hypoplasia of all or part of the external ear.\n", + " definition of HP:0008772 (Aplasia/Hypoplasia of the external ear)\n", + " \n", + " \n", + " #Absent/small external ear #Absent/underdeveloped external ear\n", + " definition of HP:0008772 (Aplasia/Hypoplasia of the external ear)\n", + " \n", + " \n", + " Psychotic episodes\n", + " definition of HP:0000725 (Psychotic episodes)\n", + " \n", + " \n", + " Periods of time during which an individual experiences significant disturbances in their thoughts, perceptions, emotions, and behavior, resulting in a loss of touch with reality. These episodes are hallmark features of psychotic disorders such as schizophrenia, schizoaffective disorder, and certain forms of bipolar disorder.\n", + " definition of HP:0000725 (Psychotic episodes)\n", + " \n", + " \n", + " #Psychotic episodes\n", + " definition of HP:0000725 (Psychotic episodes)\n", + " \n", + " \n", + " Distal sensory impairment of all modalities\n", + " definition of HP:0003409 (Distal sensory impairment of all modalities)\n", + " \n", + " \n", + " Reduced ability to sense pain, temperature, touch, vibration stimuli in the distal regions of the extremities.\n", + " definition of HP:0003409 (Distal sensory impairment of all modalities)\n", + " \n", + " \n", + " #Distal sensory loss to all modalities\n", + " definition of HP:0003409 (Distal sensory impairment of all modalities)\n", + " \n", + " \n", + " Reduced natural killer cell count\n", + " definition of HP:0040218 (Reduced natural killer cell count)\n", + " \n", + " \n", + " Less than normal number of natural killer cells, a type of lymphocyte in the innate immune system with an ability to mediate cytotoxicity and produce cytokines after the ligation of a germline-encoded activation receptor.\n", + " definition of HP:0040218 (Reduced natural killer cell count)\n", + " \n", + " \n", + " #Reduced natural killer cell number #Reduced NK cell number\n", + " definition of HP:0040218 (Reduced natural killer cell count)\n", + " \n", + " \n", + " Pathologic fracture\n", + " definition of HP:0002756 (Pathologic fracture)\n", + " \n", + " \n", + " A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone.\n", + " definition of HP:0002756 (Pathologic fracture)\n", + " \n", + " \n", + " #Spontaneous fracture\n", + " definition of HP:0002756 (Pathologic fracture)\n", + " \n", + " \n", + " Abnormal cellular composition of bronchoalveolar fluid\n", + " definition of HP:0032974 (Abnormal cellular composition of bronchoalveolar fluid)\n", + " \n", + " \n", + " Deviation from the commonly in healthy people observe cellular distribution. Normal ranges are macrophages over 80%, lymphocytes less than 15%, neutrophils less than 3%, eosinophils less than 0.5%, mast cells less than 0.5%.\n", + " definition of HP:0032974 (Abnormal cellular composition of bronchoalveolar fluid)\n", + " \n", + " \n", + " #Abnormal cell differential of broncho-alveolar fluid\n", + " definition of HP:0032974 (Abnormal cellular composition of bronchoalveolar fluid)\n", + " \n", + " \n", + " T-cell lymphoma/leukemia\n", + " definition of HP:0005517 (T-cell lymphoma/leukemia)\n", + " \n", + " \n", + " A type of T-cell lymphoma in which cancerous T-cells may present in the blood (leukemia), lymph nodes (lymphoma), skin or in multiple areas.\n", + " definition of HP:0005517 (T-cell lymphoma/leukemia)\n", + " \n", + " \n", + " Abnormal CSF glucose concentration\n", + " definition of HP:0031884 (Abnormal CSF glucose concentration)\n", + " \n", + " \n", + " A deviation from normal concentration of glucose content in the cerebrospinal fluid.\n", + " definition of HP:0031884 (Abnormal CSF glucose concentration)\n", + " \n", + " \n", + " #Abnormal CSF glucose level\n", + " definition of HP:0031884 (Abnormal CSF glucose concentration)\n", + " \n", + " \n", + " Short N3 sleep\n", + " definition of HP:5200309 (Short N3 sleep)\n", + " \n", + " \n", + " Decreased duration of phase N3 of nonrapid eye movement (NREM) sleep.\n", + " definition of HP:5200309 (Short N3 sleep)\n", + " \n", + " \n", + " #Short slow wave sleep\n", + " definition of HP:5200309 (Short N3 sleep)\n", + " \n", + " \n", + " Blind-spot enlargement\n", + " definition of HP:0030644 (Blind-spot enlargement)\n", + " \n", + " \n", + " #Blind spot enlargement\n", + " definition of HP:0030644 (Blind-spot enlargement)\n", + " \n", + " \n", + " Pansynostosis\n", + " definition of HP:0011325 (Pansynostosis)\n", + " \n", + " \n", + " Craniosynostosis of all calvarial sutures.\n", + " definition of HP:0011325 (Pansynostosis)\n", + " \n", + " \n", + " #Sysnostosis of all cranial sutures\n", + " definition of HP:0011325 (Pansynostosis)\n", + " \n", + " \n", + " Distal\n", + " definition of HP:0012839 (Distal)\n", + " \n", + " \n", + " Localized away from the central point of the body.\n", + " definition of HP:0012839 (Distal)\n", + " \n", + " \n", + " #Outermost\n", + " definition of HP:0012839 (Distal)\n", + " \n", + " \n", + " Compressed lymph-node sinuses\n", + " definition of HP:0020268 (Compressed lymph-node sinuses)\n", + " \n", + " \n", + " Loss of the typical patency (openness) of lymph node sinuses.\n", + " definition of HP:0020268 (Compressed lymph-node sinuses)\n", + " \n", + " \n", + " Neoplasm of the tongue\n", + " definition of HP:0100648 (Neoplasm of the tongue)\n", + " \n", + " \n", + " A tumor (abnormal growth of tissue) of the tongue.\n", + " definition of HP:0100648 (Neoplasm of the tongue)\n", + " \n", + " \n", + " Reduced erythrocyte gamma-glutamyl cysteine synthetase activity\n", + " definition of HP:6000132 (Reduced erythrocyte gamma-glutamyl cysteine synthetase activity)\n", + " \n", + " \n", + " Activity of gamma-glutamylcysteine synthetase (EC 6.3.2.2) in erythrocytes below the lower limit of normal.\n", + " definition of HP:6000132 (Reduced erythrocyte gamma-glutamyl cysteine synthetase activity)\n", + " \n", + " \n", + " #Gamma-glutamyl cysteine synthetase low in erythrocytes\n", + " definition of HP:6000132 (Reduced erythrocyte gamma-glutamyl cysteine synthetase activity)\n", + " \n", + " \n", + " Froment sign\n", + " definition of HP:0032121 (Froment sign)\n", + " \n", + " \n", + " An abnormal result of a physical examination of the the hand that tests for palsy of the ulnar nerve. This nerve innervates the adductor pollicis and interossei muscles and thereby enables adduction of the thumb and extension of the interphalangeal joint. An abnormal result consists in reduced functionality and muscular weakness in the pinch grip between the thumb and index finger of the affected hand as the patient attempts to pinch a piece of paper that the examiner tries to pull away. The flexor pollicis longus muscle tries to compensate for the weakness by flexing the tip of the thumb at the interphalangeal joint.\n", + " definition of HP:0032121 (Froment sign)\n", + " \n", + " \n", + " #Froment thumb sign\n", + " definition of HP:0032121 (Froment sign)\n", + " \n", + " \n", + " Clitoral hypertrophy\n", + " definition of HP:0008665 (Clitoral hypertrophy)\n", + " \n", + " \n", + " Hypertrophy of the clitoris.\n", + " definition of HP:0008665 (Clitoral hypertrophy)\n", + " \n", + " \n", + " #Clitoral enlargement #Clitoromegaly #Enlarged clitoris #Hypertrophic clitoris #Prominent clitoris\n", + " definition of HP:0008665 (Clitoral hypertrophy)\n", + " \n", + " \n", + " Abnormal circulating testosterone concentration\n", + " definition of HP:0030087 (Abnormal circulating testosterone concentration)\n", + " \n", + " \n", + " An anomalous concentration of testosterone in the blood.\n", + " definition of HP:0030087 (Abnormal circulating testosterone concentration)\n", + " \n", + " \n", + " #Abnormal serum testosterone level\n", + " definition of HP:0030087 (Abnormal circulating testosterone concentration)\n", + " \n", + " \n", + " Low maternal circulating PAPP-A concentration\n", + " definition of HP:0011435 (Low maternal circulating PAPP-A concentration)\n", + " \n", + " \n", + " An abnormally low concentration of serum PAPP-A (pregnancy associated plasma protein A), as compared to normal values for gestational-age.\n", + " definition of HP:0011435 (Low maternal circulating PAPP-A concentration)\n", + " \n", + " \n", + " #Low maternal serum PAPP-A\n", + " definition of HP:0011435 (Low maternal circulating PAPP-A concentration)\n", + " \n", + " \n", + " Nevus sebaceus\n", + " definition of HP:0025511 (Nevus sebaceus)\n", + " \n", + " \n", + " A solitary yellow-orange slightly raised plaque typically on scalp or face. The plaque typically thickens and becomes more verrucous or pebbly during childhood.\n", + " definition of HP:0025511 (Nevus sebaceus)\n", + " \n", + " \n", + " Tibial deviation of the 2nd toe\n", + " definition of HP:0100345 (Tibial deviation of the 2nd toe)\n", + " \n", + " \n", + " Skin vesicle\n", + " definition of HP:0200037 (Skin vesicle)\n", + " \n", + " \n", + " A circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point.\n", + " definition of HP:0200037 (Skin vesicle)\n", + " \n", + " \n", + " Elevated urinary vanillylmandelic acid\n", + " definition of HP:0011978 (Elevated urinary vanillylmandelic acid)\n", + " \n", + " \n", + " An increased concentration of vanillylmandelic acid in the urine.\n", + " definition of HP:0011978 (Elevated urinary vanillylmandelic acid)\n", + " \n", + " \n", + " Limited neck extension\n", + " definition of HP:0033453 (Limited neck extension)\n", + " \n", + " \n", + " Reduced ability to move the head back towards the ceiling so that one is looking upwards.\n", + " definition of HP:0033453 (Limited neck extension)\n", + " \n", + " \n", + " Radiodense\n", + " definition of HP:0025790 (Radiodense)\n", + " \n", + " \n", + " Applies to a lesion that attenuates X-rays and appears radiodense (white) on a radiograph.\n", + " definition of HP:0025790 (Radiodense)\n", + " \n", + " \n", + " Abnormal ulnar styloid process morphology\n", + " definition of HP:0004035 (Abnormal ulnar styloid process morphology)\n", + " \n", + " \n", + " #Abnormality of the styloid process of ulna\n", + " definition of HP:0004035 (Abnormal ulnar styloid process morphology)\n", + " \n", + " \n", + " Calcium oxalate nephrolithiasis\n", + " definition of HP:0008672 (Calcium oxalate nephrolithiasis)\n", + " \n", + " \n", + " The presence of calcium- and oxalate-containing calculi (stones) in the kidneys.\n", + " definition of HP:0008672 (Calcium oxalate nephrolithiasis)\n", + " \n", + " \n", + " #Ca oxalate kidney stone #Ca oxalate nephrolithiasis #Ca oxalate urolithiasis #Ca2+ oxalate kidney stone #Ca2+ oxalate nephrolithiasis #Ca2+ oxalate urolithiasis #Calcium oxalate kidney stones #Oxalate nephrolithiasis\n", + " definition of HP:0008672 (Calcium oxalate nephrolithiasis)\n", + " \n", + " \n", + " Bullet-shaped proximal phalanx of the 4th toe\n", + " definition of HP:0100438 (Bullet-shaped proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " An abnormal morphology of the proximal phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.\n", + " definition of HP:0100438 (Bullet-shaped proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " #Bullet-shaped proximal bone of the 4th toe\n", + " definition of HP:0100438 (Bullet-shaped proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " Steroid-responsive anemia\n", + " definition of HP:0033074 (Steroid-responsive anemia)\n", + " \n", + " \n", + " Amelioration of anemia upon treatment with a steroid medication.\n", + " definition of HP:0033074 (Steroid-responsive anemia)\n", + " \n", + " \n", + " #Prednisone-responsive anaemia #Prednisone-responsive anemia #Steroid-responsive anaemia\n", + " definition of HP:0033074 (Steroid-responsive anemia)\n", + " \n", + " \n", + " Abnormal timing of pattern onset/offset visual evoked potentials\n", + " definition of HP:0030458 (Abnormal timing of pattern onset/offset visual evoked potentials)\n", + " \n", + " \n", + " Facial papilloma\n", + " definition of HP:0040167 (Facial papilloma)\n", + " \n", + " \n", + " #Facial verruca #Facial wart\n", + " definition of HP:0040167 (Facial papilloma)\n", + " \n", + " \n", + " History of congenital CMV infection\n", + " definition of HP:0033624 (History of congenital CMV infection)\n", + " \n", + " \n", + " A congenital cytomegalovirus (CMV) infection of the newborn can follow either a primary or recurrent maternal infection. Jaundice, petechiae, and hepatosplenomegaly are the most frequently noted clinical triad in symptomatic infants. Affected infants may develop permanent disabilities such as hearing loss, vision loss, motor and cognitive deficits.\n", + " definition of HP:0033624 (History of congenital CMV infection)\n", + " \n", + " \n", + " #History of congenital cytomegalovirus infection\n", + " definition of HP:0033624 (History of congenital CMV infection)\n", + " \n", + " \n", + " Increased stool alpha1-antitrypsin concentration\n", + " definition of HP:0031686 (Increased stool alpha1-antitrypsin concentration)\n", + " \n", + " \n", + " An abnormally elevated amount of alpha1-antitrypsin in the feces.\n", + " definition of HP:0031686 (Increased stool alpha1-antitrypsin concentration)\n", + " \n", + " \n", + " Impaired neutrophil killing of staphylococci\n", + " definition of HP:0005512 (Impaired neutrophil killing of staphylococci)\n", + " \n", + " \n", + " A reduction in the ability of neutrophils to kill the gram-positive bacteria, staphylococcus, which is commonly known as staph.\n", + " definition of HP:0005512 (Impaired neutrophil killing of staphylococci)\n", + " \n", + " \n", + " Upper airway obstruction\n", + " definition of HP:0002781 (Upper airway obstruction)\n", + " \n", + " \n", + " Increased resistance to the passage of air in the upper airway.\n", + " definition of HP:0002781 (Upper airway obstruction)\n", + " \n", + " \n", + " #Upper airway obstruction\n", + " definition of HP:0002781 (Upper airway obstruction)\n", + " \n", + " \n", + " Hyperextensibility of the knee\n", + " definition of HP:0010500 (Hyperextensibility of the knee)\n", + " \n", + " \n", + " The ability of the knee joint to extend beyond its normal range of motion (the lower leg is moved beyond a straight position with respect to the thigh).\n", + " definition of HP:0010500 (Hyperextensibility of the knee)\n", + " \n", + " \n", + " Resistance to activated protein C\n", + " definition of HP:0012175 (Resistance to activated protein C)\n", + " \n", + " \n", + " Poor anticoagulant response to activated protein C. A plasma is termed 'APC resistant' when the addition of exogenous APC fails to prolong its clotting time in an activated partial thromboplastin time assay.\n", + " definition of HP:0012175 (Resistance to activated protein C)\n", + " \n", + " \n", + " #Activated protein C resistance\n", + " definition of HP:0012175 (Resistance to activated protein C)\n", + " \n", + " \n", + " Posterior cerebral artery stenosis\n", + " definition of HP:0012495 (Posterior cerebral artery stenosis)\n", + " \n", + " \n", + " Narrowing or constriction of the inner surface (lumen) of the posterior cerebral artery.\n", + " definition of HP:0012495 (Posterior cerebral artery stenosis)\n", + " \n", + " \n", + " Fatty streak\n", + " definition of HP:0031011 (Fatty streak)\n", + " \n", + " \n", + " Yellow-colored streaks, patches, or spots on the intimal surface of arteries. Fatty streaks stain red with Sudan III or Sudan IV.\n", + " definition of HP:0031011 (Fatty streak)\n", + " \n", + " \n", + " Perivascular dermis hyaline deposition\n", + " definition of HP:0034925 (Perivascular dermis hyaline deposition)\n", + " \n", + " \n", + " Deposition of a largely amorphous hyaline (transparent and homogeneous) substance around blood vessels in the dermis layer of the skin.\n", + " definition of HP:0034925 (Perivascular dermis hyaline deposition)\n", + " \n", + " \n", + " Triangular epiphysis of the proximal phalanx of the 5th finger\n", + " definition of HP:0009154 (Triangular epiphysis of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " A triangular appearance of the epiphysis of the proximal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.\n", + " definition of HP:0009154 (Triangular epiphysis of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " #Delta-shaped epiphysis of the proximal phalanx of the 5th finger #Triangular end part of the innermost bone of little finger #Triangular end part of the innermost bone of pinkie finger #Triangular end part of the innermost bone of pinky finger\n", + " definition of HP:0009154 (Triangular epiphysis of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " Abnormal nasopharynx morphology\n", + " definition of HP:0001739 (Abnormal nasopharynx morphology)\n", + " \n", + " \n", + " A structural anomaly of the nasopharynx.\n", + " definition of HP:0001739 (Abnormal nasopharynx morphology)\n", + " \n", + " \n", + " #Abnormality of the nasopharynx\n", + " definition of HP:0001739 (Abnormal nasopharynx morphology)\n", + " \n", + " \n", + " 3-Methylglutaric aciduria\n", + " definition of HP:0003344 (3-Methylglutaric aciduria)\n", + " \n", + " \n", + " An abnormally increased level of 3-hydroxy-3-methylglutaric acid in the urine.\n", + " definition of HP:0003344 (3-Methylglutaric aciduria)\n", + " \n", + " \n", + " #3-methylglutaricaciduria\n", + " definition of HP:0003344 (3-Methylglutaric aciduria)\n", + " \n", + " \n", + " Euthyroid multinodular goiter\n", + " definition of HP:0000866 (Euthyroid multinodular goiter)\n", + " \n", + " \n", + " #Euthyroid multinodular goitre\n", + " definition of HP:0000866 (Euthyroid multinodular goiter)\n", + " \n", + " \n", + " Shuffling gait\n", + " definition of HP:0002362 (Shuffling gait)\n", + " \n", + " \n", + " A type of gait (walking) characterized by by dragging one's feet along or without lifting the feet fully from the ground.\n", + " definition of HP:0002362 (Shuffling gait)\n", + " \n", + " \n", + " #Shuffled walk\n", + " definition of HP:0002362 (Shuffling gait)\n", + " \n", + " \n", + " Nephroptosis\n", + " definition of HP:0011126 (Nephroptosis)\n", + " \n", + " \n", + " A significant descent of the kidney as the patient moves from the supine to the erect position.\n", + " definition of HP:0011126 (Nephroptosis)\n", + " \n", + " \n", + " #Floating kidney #Renal ptosis\n", + " definition of HP:0011126 (Nephroptosis)\n", + " \n", + " \n", + " Abnormality of B cell physiology\n", + " definition of HP:0005372 (Abnormality of B cell physiology)\n", + " \n", + " \n", + " An abnormality of the physiological functioning of B cells.\n", + " definition of HP:0005372 (Abnormality of B cell physiology)\n", + " \n", + " \n", + " #Abnormality of B cell physiology #Reduced B cell function\n", + " definition of HP:0005372 (Abnormality of B cell physiology)\n", + " \n", + " \n", + " Localized\n", + " definition of HP:0012838 (Localized)\n", + " \n", + " \n", + " Being confined or restricted to a particular location.\n", + " definition of HP:0012838 (Localized)\n", + " \n", + " \n", + " #Localised #Localized\n", + " definition of HP:0012838 (Localized)\n", + " \n", + " \n", + " Anti-GluK2 antibody\n", + " definition of HP:5000044 (Anti-GluK2 antibody)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glutamate kainate receptor subunit 2 (GluK2).\n", + " definition of HP:5000044 (Anti-GluK2 antibody)\n", + " \n", + " \n", + " #Anti-glutamate kainate receptor subunit 2 antibody\n", + " definition of HP:5000044 (Anti-GluK2 antibody)\n", + " \n", + " \n", + " Middiastolic murmur\n", + " definition of HP:0031669 (Middiastolic murmur)\n", + " \n", + " \n", + " A murmur that occurs in the middle of the diastolic phase.\n", + " definition of HP:0031669 (Middiastolic murmur)\n", + " \n", + " \n", + " Hyperintensity of MRI T2 signal of the spinal cord\n", + " definition of HP:0040272 (Hyperintensity of MRI T2 signal of the spinal cord)\n", + " \n", + " \n", + " A region of high intensity (brightness) observed upon magnetic resonance imaging (MRI) scans of the spinal cord.\n", + " definition of HP:0040272 (Hyperintensity of MRI T2 signal of the spinal cord)\n", + " \n", + " \n", + " Spina bifida\n", + " definition of HP:0002414 (Spina bifida)\n", + " \n", + " \n", + " Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele.\n", + " definition of HP:0002414 (Spina bifida)\n", + " \n", + " \n", + " Gallbladder wall thickening\n", + " definition of HP:0034505 (Gallbladder wall thickening)\n", + " \n", + " \n", + " Abnormal increased in the thickness of the wall of the gallbladder.\n", + " definition of HP:0034505 (Gallbladder wall thickening)\n", + " \n", + " \n", + " Abnormal metacarpophalangeal joint morphology\n", + " definition of HP:0011911 (Abnormal metacarpophalangeal joint morphology)\n", + " \n", + " \n", + " An anomaly of a metacarpophalangeal joint.\n", + " definition of HP:0011911 (Abnormal metacarpophalangeal joint morphology)\n", + " \n", + " \n", + " #Abnormality of metacarpophalangeal joint #Abnormality of the knuckle\n", + " definition of HP:0011911 (Abnormal metacarpophalangeal joint morphology)\n", + " \n", + " \n", + " Capillary hemangioma\n", + " definition of HP:0005306 (Capillary hemangioma)\n", + " \n", + " \n", + " The presence of a capillary hemangioma, which are hemangiomas with small endothelial spaces.\n", + " definition of HP:0005306 (Capillary hemangioma)\n", + " \n", + " \n", + " #Capillary hemangiomata #Strawberry birthmark\n", + " definition of HP:0005306 (Capillary hemangioma)\n", + " \n", + " \n", + " Fundus albipunctatus\n", + " definition of HP:0030642 (Fundus albipunctatus)\n", + " \n", + " \n", + " Hepatic focal nodular hyperplasia\n", + " definition of HP:0034498 (Hepatic focal nodular hyperplasia)\n", + " \n", + " \n", + " Hepatic focal nodular hyperplasia (FNH) is a benign hepatic tumor. FNH develops within hepatic parenchymal tissue that is otherwise histologically normal. Macroscopically, the tumor is characterized by the presence of depressed, grayish-white scar, which is generally (but not always) located at the center of the lesion, with fibrous septa radiating outward, toward the periphery of the tumor. This stellate scar is found in only 50% of all FNH nodules, but its presence is regarded as pathognomonic. The lesion itself is usually lighter in color than the tissue that surrounds it, and it sometimes has a yellowish hue. FNH nodules are generally not capsulated; their margins are well defined, and they are sometimes lobulated.\n", + " definition of HP:0034498 (Hepatic focal nodular hyperplasia)\n", + " \n", + " \n", + " #Focal nodular hyperplasia\n", + " definition of HP:0034498 (Hepatic focal nodular hyperplasia)\n", + " \n", + " \n", + " Thinning of the substantia nigra pars compacta\n", + " definition of HP:0034316 (Thinning of the substantia nigra pars compacta)\n", + " \n", + " \n", + " Reduced volume of pars compacta of the substantia nigra.\n", + " definition of HP:0034316 (Thinning of the substantia nigra pars compacta)\n", + " \n", + " \n", + " Keratoconjunctivitis sicca\n", + " definition of HP:0001097 (Keratoconjunctivitis sicca)\n", + " \n", + " \n", + " Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids.\n", + " definition of HP:0001097 (Keratoconjunctivitis sicca)\n", + " \n", + " \n", + " #Dry eyes #Keratitis sicca #Xerophthalmia\n", + " definition of HP:0001097 (Keratoconjunctivitis sicca)\n", + " \n", + " \n", + " Restrictive cardiomyopathy\n", + " definition of HP:0001723 (Restrictive cardiomyopathy)\n", + " \n", + " \n", + " Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness.\n", + " definition of HP:0001723 (Restrictive cardiomyopathy)\n", + " \n", + " \n", + " Amenorrhea\n", + " definition of HP:0000141 (Amenorrhea)\n", + " \n", + " \n", + " Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months.\n", + " definition of HP:0000141 (Amenorrhea)\n", + " \n", + " \n", + " #Abnormal absence of menstruation\n", + " definition of HP:0000141 (Amenorrhea)\n", + " \n", + " \n", + " Abnormality of the supraorbital ridges\n", + " definition of HP:0100538 (Abnormality of the supraorbital ridges)\n", + " \n", + " \n", + " An anomaly of the supraorbital portion of the frontal bones.\n", + " definition of HP:0100538 (Abnormality of the supraorbital ridges)\n", + " \n", + " \n", + " #Abnormality of the brow of the face\n", + " definition of HP:0100538 (Abnormality of the supraorbital ridges)\n", + " \n", + " \n", + " Aplasia of the thymus\n", + " definition of HP:0005359 (Aplasia of the thymus)\n", + " \n", + " \n", + " Absence of the thymus. This feature may be appreciated by the lack of a thymic shadow upon radiographic examination.\n", + " definition of HP:0005359 (Aplasia of the thymus)\n", + " \n", + " \n", + " #Absent thymus #Athymia\n", + " definition of HP:0005359 (Aplasia of the thymus)\n", + " \n", + " \n", + " Pulmonary arterial hypertension\n", + " definition of HP:0002092 (Pulmonary arterial hypertension)\n", + " \n", + " \n", + " Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.\n", + " definition of HP:0002092 (Pulmonary arterial hypertension)\n", + " \n", + " \n", + " #Increased blood pressure in blood vessels of lungs #Pulmonary artery hypertension\n", + " definition of HP:0002092 (Pulmonary arterial hypertension)\n", + " \n", + " \n", + " Medially sloping radial epiphyses\n", + " definition of HP:0004009 (Medially sloping radial epiphyses)\n", + " \n", + " \n", + " Thiamine-responsive megaloblastic anemia\n", + " definition of HP:0004860 (Thiamine-responsive megaloblastic anemia)\n", + " \n", + " \n", + " A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of thiamine.\n", + " definition of HP:0004860 (Thiamine-responsive megaloblastic anemia)\n", + " \n", + " \n", + " #Thiamine-responsive megaloblastic anaemia\n", + " definition of HP:0004860 (Thiamine-responsive megaloblastic anemia)\n", + " \n", + " \n", + " Short eyelashes\n", + " definition of HP:0010764 (Short eyelashes)\n", + " \n", + " \n", + " Decreased length of the eyelashes (subjective).\n", + " definition of HP:0010764 (Short eyelashes)\n", + " \n", + " \n", + " #Decreased length of eyelashes #Short eyelashes\n", + " definition of HP:0010764 (Short eyelashes)\n", + " \n", + " \n", + " Abnormal liver morphology\n", + " definition of HP:0410042 (Abnormal liver morphology)\n", + " \n", + " \n", + " Any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage.\n", + " definition of HP:0410042 (Abnormal liver morphology)\n", + " \n", + " \n", + " Osteopoikilosis\n", + " definition of HP:0010739 (Osteopoikilosis)\n", + " \n", + " \n", + " Osteopoikilosis is a benign, asymptomatic sclerotic dysplasia of the bones. It affects both male and female and may be seen at any age. Radiographically sclerotic circular or ovoid lesions are usually symmetrically distributed in a periarticular location. Lesions can increase or decrease in size and number in serial radiographs or even disappear and do not have increased bone radiotracer uptake.\n", + " definition of HP:0010739 (Osteopoikilosis)\n", + " \n", + " \n", + " Small radial epiphyses\n", + " definition of HP:0004010 (Small radial epiphyses)\n", + " \n", + " \n", + " Epidermal nevus\n", + " definition of HP:0010816 (Epidermal nevus)\n", + " \n", + " \n", + " Epidermal naevi are due to an overgrowth of the epidermis and may be present at birth (50%) or develop during childhood.\n", + " definition of HP:0010816 (Epidermal nevus)\n", + " \n", + " \n", + " Problematic alcohol consumption\n", + " definition of HP:5200329 (Problematic alcohol consumption)\n", + " \n", + " \n", + " Impaired ability to stop or control alcohol use despite adverse social, occupational, or health consequences.\n", + " definition of HP:5200329 (Problematic alcohol consumption)\n", + " \n", + " \n", + " #Excessive alcohol consumption\n", + " definition of HP:5200329 (Problematic alcohol consumption)\n", + " \n", + " \n", + " Abnormal fourth toe morphology\n", + " definition of HP:0010321 (Abnormal fourth toe morphology)\n", + " \n", + " \n", + " An anomaly of the fourth toe.\n", + " definition of HP:0010321 (Abnormal fourth toe morphology)\n", + " \n", + " \n", + " #Abnormal 4th toe morphology #Abnormality of the 4th toe\n", + " definition of HP:0010321 (Abnormal fourth toe morphology)\n", + " \n", + " \n", + " Shawl scrotum\n", + " definition of HP:0000049 (Shawl scrotum)\n", + " \n", + " \n", + " Superior margin of the scrotum superior to the base of the penis.\n", + " definition of HP:0000049 (Shawl scrotum)\n", + " \n", + " \n", + " #Overriding scrotum #Scrotum surrounds penis\n", + " definition of HP:0000049 (Shawl scrotum)\n", + " \n", + " \n", + " Severe hydrocephalus\n", + " definition of HP:0006882 (Severe hydrocephalus)\n", + " \n", + " \n", + " Periorbital fullness\n", + " definition of HP:0000629 (Periorbital fullness)\n", + " \n", + " \n", + " Increase in periorbital soft tissue.\n", + " definition of HP:0000629 (Periorbital fullness)\n", + " \n", + " \n", + " #Periorbital puffiness #Periorbital swelling #Puffiness around eye #Puffy eyes #Swelling around the eyes\n", + " definition of HP:0000629 (Periorbital fullness)\n", + " \n", + " \n", + " Broad toe\n", + " definition of HP:0001837 (Broad toe)\n", + " \n", + " \n", + " Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension.\n", + " definition of HP:0001837 (Broad toe)\n", + " \n", + " \n", + " #Broad toe #Wide toe\n", + " definition of HP:0001837 (Broad toe)\n", + " \n", + " \n", + " Broad alveolar ridges\n", + " definition of HP:0000187 (Broad alveolar ridges)\n", + " \n", + " \n", + " #Broad alveolar margins #Widened alveolar ridges\n", + " definition of HP:0000187 (Broad alveolar ridges)\n", + " \n", + " \n", + " Angle closure glaucoma\n", + " definition of HP:0012109 (Angle closure glaucoma)\n", + " \n", + " \n", + " A type of glaucomatous optic neuropathy in an eye that has evidence of angle closure (i.e. significant iridotrabecular contact).\n", + " definition of HP:0012109 (Angle closure glaucoma)\n", + " \n", + " \n", + " #Closed-angle glaucoma #Narrow angle glaucoma\n", + " definition of HP:0012109 (Angle closure glaucoma)\n", + " \n", + " \n", + " Arcuate vein intimal/medial myxomatous degeneration\n", + " definition of HP:0033881 (Arcuate vein intimal/medial myxomatous degeneration)\n", + " \n", + " \n", + " Accumulation of myxoid material (mucus-like material) within the inner or middle layer of the arcuate vein of the kidney.\n", + " definition of HP:0033881 (Arcuate vein intimal/medial myxomatous degeneration)\n", + " \n", + " \n", + " #Myxomatous change within arcuate vein intima/media\n", + " definition of HP:0033881 (Arcuate vein intimal/medial myxomatous degeneration)\n", + " \n", + " \n", + " Intratubular dihydroxyadenuria crystals\n", + " definition of HP:0032629 (Intratubular dihydroxyadenuria crystals)\n", + " \n", + " \n", + " Intratubular crystals composed of 2,8-dihydroxyadenine are small needle-shaped brownish crystals that are highly birefringent under polarized light and black by Jones methenamine silver.\n", + " definition of HP:0032629 (Intratubular dihydroxyadenuria crystals)\n", + " \n", + " \n", + " Excessive wrinkled skin\n", + " definition of HP:0007392 (Excessive wrinkled skin)\n", + " \n", + " \n", + " #Excessive wrinkled skin\n", + " definition of HP:0007392 (Excessive wrinkled skin)\n", + " \n", + " \n", + " Cytoplasmic antineutrophil antibody positivity\n", + " definition of HP:0032230 (Cytoplasmic antineutrophil antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies in the serum that react against proteins predominantly expressed in cytoplasmic granules of neutrophils.\n", + " definition of HP:0032230 (Cytoplasmic antineutrophil antibody positivity)\n", + " \n", + " \n", + " #Anti-neutrophil cytoplasmic antibody positivity #C-ANCA antibodies #Cytoplasmic antineutrophil cytoplasmic antibodies\n", + " definition of HP:0032230 (Cytoplasmic antineutrophil antibody positivity)\n", + " \n", + " \n", + " Polymorphic vesicular eruption\n", + " definition of HP:0033699 (Polymorphic vesicular eruption)\n", + " \n", + " \n", + " A type of vesicular eruption in which the vesicles are at different stages.\n", + " definition of HP:0033699 (Polymorphic vesicular eruption)\n", + " \n", + " \n", + " Episodic hyperhidrosis\n", + " definition of HP:0001069 (Episodic hyperhidrosis)\n", + " \n", + " \n", + " Intermittent episodes of abnormally increased perspiration.\n", + " definition of HP:0001069 (Episodic hyperhidrosis)\n", + " \n", + " \n", + " #Hyperhidrosis, episodic #Sporadic excessive sweating\n", + " definition of HP:0001069 (Episodic hyperhidrosis)\n", + " \n", + " \n", + " Congenital hypoparathyroidism\n", + " definition of HP:0008198 (Congenital hypoparathyroidism)\n", + " \n", + " \n", + " Deficiency of parathyroid hormone with congenital onset.\n", + " definition of HP:0008198 (Congenital hypoparathyroidism)\n", + " \n", + " \n", + " #Neonatal hypoparathyroidism\n", + " definition of HP:0008198 (Congenital hypoparathyroidism)\n", + " \n", + " \n", + " Shortening of all proximal phalanges of the fingers\n", + " definition of HP:0006144 (Shortening of all proximal phalanges of the fingers)\n", + " \n", + " \n", + " Congenital hypoplasia of proximal phalanx of finger or all fingers.\n", + " definition of HP:0006144 (Shortening of all proximal phalanges of the fingers)\n", + " \n", + " \n", + " #Shortening of all innermost bones of the fingers\n", + " definition of HP:0006144 (Shortening of all proximal phalanges of the fingers)\n", + " \n", + " \n", + " Sclerodactyly\n", + " definition of HP:0011838 (Sclerodactyly)\n", + " \n", + " \n", + " Localized thickening and tightness of the skin of the fingers or toes.\n", + " definition of HP:0011838 (Sclerodactyly)\n", + " \n", + " \n", + " Hypoplastic pelvis\n", + " definition of HP:0008839 (Hypoplastic pelvis)\n", + " \n", + " \n", + " Underdevelopment of the bony pelvis.\n", + " definition of HP:0008839 (Hypoplastic pelvis)\n", + " \n", + " \n", + " #Hypoplastic pelvic bones #Small pelvis\n", + " definition of HP:0008839 (Hypoplastic pelvis)\n", + " \n", + " \n", + " Neoplasm of the pancreas\n", + " definition of HP:0002894 (Neoplasm of the pancreas)\n", + " \n", + " \n", + " A tumor (abnormal growth of tissue) of the pancreas.\n", + " definition of HP:0002894 (Neoplasm of the pancreas)\n", + " \n", + " \n", + " #Neoplasia of the pancreas #Pancreatic tumor #Pancreatic tumour\n", + " definition of HP:0002894 (Neoplasm of the pancreas)\n", + " \n", + " \n", + " Symphalangism affecting the middle phalanx of the 5th toe\n", + " definition of HP:0100472 (Symphalangism affecting the middle phalanx of the 5th toe)\n", + " \n", + " \n", + " #Fused middle bones of 5th toe\n", + " definition of HP:0100472 (Symphalangism affecting the middle phalanx of the 5th toe)\n", + " \n", + " \n", + " Peripheral schwannoma\n", + " definition of HP:0009593 (Peripheral schwannoma)\n", + " \n", + " \n", + " The presence of a peripheral schwannoma.\n", + " definition of HP:0009593 (Peripheral schwannoma)\n", + " \n", + " \n", + " Sandal gap\n", + " definition of HP:0001852 (Sandal gap)\n", + " \n", + " \n", + " A widely spaced gap between the first toe (the great toe) and the second toe.\n", + " definition of HP:0001852 (Sandal gap)\n", + " \n", + " \n", + " #Gap between 1st and 2nd toes #Gap between first and second toe #Increased space between first and second toes #Sandal gap between first and second toes #Space between great toe and second toe #Wide space between 1st, 2nd toes #Wide space between first and second toes #Wide-spaced big toe #Widely spaced 1st-2nd toes #Widely spaced first and second toes #Widened gap 1st-2nd toes #Widened gap first and second toe\n", + " definition of HP:0001852 (Sandal gap)\n", + " \n", + " \n", + " Duplication of the distal phalanx of the 4th toe\n", + " definition of HP:0100399 (Duplication of the distal phalanx of the 4th toe)\n", + " \n", + " \n", + " Partial or complete duplication of the distal phalanx of fourth toe.\n", + " definition of HP:0100399 (Duplication of the distal phalanx of the 4th toe)\n", + " \n", + " \n", + " #Duplication of the distal phalanx of the fourth toe #Duplication of the outermost bone of the 4th toe #Partial/complete duplication of the distal phalanx of the 4th toe\n", + " definition of HP:0100399 (Duplication of the distal phalanx of the 4th toe)\n", + " \n", + " \n", + " Elevated circulating apolipoprotein E concentration\n", + " definition of HP:0034912 (Elevated circulating apolipoprotein E concentration)\n", + " \n", + " \n", + " Concentration of apolipoprotein E above the upper limit of normal.\n", + " definition of HP:0034912 (Elevated circulating apolipoprotein E concentration)\n", + " \n", + " \n", + " Olfactory lobe agenesis\n", + " definition of HP:0001341 (Olfactory lobe agenesis)\n", + " \n", + " \n", + " #Olfactory lobe absence\n", + " definition of HP:0001341 (Olfactory lobe agenesis)\n", + " \n", + " \n", + " Aphalangy of the hands\n", + " definition of HP:0005886 (Aphalangy of the hands)\n", + " \n", + " \n", + " Absence of a digit or of one or more phalanges of a finger.\n", + " definition of HP:0005886 (Aphalangy of the hands)\n", + " \n", + " \n", + " Personality disorder\n", + " definition of HP:0012075 (Personality disorder)\n", + " \n", + " \n", + " A personality disorder is a deeply ingrained pattern of behavior of a specified kind that deviates markedly from the norms of generally accepted behavior. It is typically apparent by the time of adolescence and causes long-term difficulties in personal relationships or functioning in society.\n", + " definition of HP:0012075 (Personality disorder)\n", + " \n", + " \n", + " Uplifted earlobe\n", + " definition of HP:0009909 (Uplifted earlobe)\n", + " \n", + " \n", + " An abnormal orientation of the earlobes such that they point out- and upward. That is, the lateral surface of ear lobe faces superiorly.\n", + " definition of HP:0009909 (Uplifted earlobe)\n", + " \n", + " \n", + " #Fleshy upturned lobules #Lobe, uplifted #Uplifted earlobe #Upturned earlobe\n", + " definition of HP:0009909 (Uplifted earlobe)\n", + " \n", + " \n", + " Abnormal cornea morphology\n", + " definition of HP:0000481 (Abnormal cornea morphology)\n", + " \n", + " \n", + " Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber.\n", + " definition of HP:0000481 (Abnormal cornea morphology)\n", + " \n", + " \n", + " #Abnormality of the cornea #Corneal abnormalities #Corneal abnormality\n", + " definition of HP:0000481 (Abnormal cornea morphology)\n", + " \n", + " \n", + " Narrow small joints of the hand\n", + " definition of HP:0004267 (Narrow small joints of the hand)\n", + " \n", + " \n", + " #Narrow small joints of the hand\n", + " definition of HP:0004267 (Narrow small joints of the hand)\n", + " \n", + " \n", + " Harlequin phenomenon\n", + " definition of HP:0025531 (Harlequin phenomenon)\n", + " \n", + " \n", + " The Harlequin phenomenon consists of a sudden change in skin color, resulting in two different body colors, one on each half of the body.\n", + " definition of HP:0025531 (Harlequin phenomenon)\n", + " \n", + " \n", + " Spinning\n", + " definition of HP:5200069 (Spinning)\n", + " \n", + " \n", + " An excessive frequency of spinning one's body.\n", + " definition of HP:5200069 (Spinning)\n", + " \n", + " \n", + " #Twirling\n", + " definition of HP:5200069 (Spinning)\n", + " \n", + " \n", + " Dissociated vertical deviation\n", + " definition of HP:0500074 (Dissociated vertical deviation)\n", + " \n", + " \n", + " An incomitant tendency for an occluded eye to elevate and extort which resolves on uncovering.\n", + " definition of HP:0500074 (Dissociated vertical deviation)\n", + " \n", + " \n", + " Ductus venosus agenesis with intrahepatic drainage\n", + " definition of HP:6000369 (Ductus venosus agenesis with intrahepatic drainage)\n", + " \n", + " \n", + " A form of ductus venosus agenesis in which the umbilical vein connects via the portal sinus to the portal venous system (PVS) without giving rise to the ductus venosus. In some cases an intrahepatic shunt from a portal to a hepatic vein can be detected prenatally. This variant has been reported to have a favorable prognosis.\n", + " definition of HP:6000369 (Ductus venosus agenesis with intrahepatic drainage)\n", + " \n", + " \n", + " Tetralogy of Fallot with pulmonary atresia\n", + " definition of HP:0012516 (Tetralogy of Fallot with pulmonary atresia)\n", + " \n", + " \n", + " An extreme form of tetralogy of Fallot characterized by absence of flow from the right ventricle to the pulmonary arteries.\n", + " definition of HP:0012516 (Tetralogy of Fallot with pulmonary atresia)\n", + " \n", + " \n", + " Enhanced neurotoxicity of vincristine\n", + " definition of HP:0003009 (Enhanced neurotoxicity of vincristine)\n", + " \n", + " \n", + " Polydactyly affecting the 4th toe\n", + " definition of HP:0010340 (Polydactyly affecting the 4th toe)\n", + " \n", + " \n", + " Aplastic pubic bone\n", + " definition of HP:0008817 (Aplastic pubic bone)\n", + " \n", + " \n", + " A developmental defect characterized by lack of development of the pubis bone.\n", + " definition of HP:0008817 (Aplastic pubic bone)\n", + " \n", + " \n", + " #Absent pubic bones #Aplastic pubic bones\n", + " definition of HP:0008817 (Aplastic pubic bone)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the 5th finger\n", + " definition of HP:0006262 (Aplasia/Hypoplasia of the 5th finger)\n", + " \n", + " \n", + " A small/hypoplastic or absent/aplastic 5th finger.\n", + " definition of HP:0006262 (Aplasia/Hypoplasia of the 5th finger)\n", + " \n", + " \n", + " #Absent/small little finger #Absent/small pinkie finger #Absent/small pinky finger #Absent/underdeveloped little finger #Absent/underdeveloped pinkie finger #Absent/underdeveloped pinky finger\n", + " definition of HP:0006262 (Aplasia/Hypoplasia of the 5th finger)\n", + " \n", + " \n", + " Reduced circulating insulin-like growth factor 2 concentration\n", + " definition of HP:6000404 (Reduced circulating insulin-like growth factor 2 concentration)\n", + " \n", + " \n", + " The concentration of insulin-like growth factor 2 (IGF2) in the blood circulation is below the lower limit of normal. IGF2 is a peptide hormone regulating various cellular processes such as proliferation and apoptosis.\n", + " definition of HP:6000404 (Reduced circulating insulin-like growth factor 2 concentration)\n", + " \n", + " \n", + " EEG with spike-wave complexes (2.5-3.5 Hz)\n", + " definition of HP:0010848 (EEG with spike-wave complexes (2.5-3.5 Hz))\n", + " \n", + " \n", + " The presence of complexes of spikes and waves (2.5-3.5 Hz) in electroencephalography (EEG).\n", + " definition of HP:0010848 (EEG with spike-wave complexes (2.5-3.5 Hz))\n", + " \n", + " \n", + " Phocomelia\n", + " definition of HP:0009829 (Phocomelia)\n", + " \n", + " \n", + " Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the hole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia).\n", + " definition of HP:0009829 (Phocomelia)\n", + " \n", + " \n", + " Hypermobility of interphalangeal joints\n", + " definition of HP:0005620 (Hypermobility of interphalangeal joints)\n", + " \n", + " \n", + " The ability of the interphalangeal joints to move beyond their normal range of motion.\n", + " definition of HP:0005620 (Hypermobility of interphalangeal joints)\n", + " \n", + " \n", + " #Increased mobility of hinge joints\n", + " definition of HP:0005620 (Hypermobility of interphalangeal joints)\n", + " \n", + " \n", + " Frontal open bite\n", + " definition of HP:0200094 (Frontal open bite)\n", + " \n", + " \n", + " Splenic granulomatosis\n", + " definition of HP:6000981 (Splenic granulomatosis)\n", + " \n", + " \n", + " Splenic inflammation involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells.\n", + " definition of HP:6000981 (Splenic granulomatosis)\n", + " \n", + " \n", + " Irregularly shaped keratohyaline granules\n", + " definition of HP:0034944 (Irregularly shaped keratohyaline granules)\n", + " \n", + " \n", + " Abnormal shape of keratohyaline granules in dermal keratinocytes.\n", + " definition of HP:0034944 (Irregularly shaped keratohyaline granules)\n", + " \n", + " \n", + " Elevated circulating methysterol concentration\n", + " definition of HP:6001113 (Elevated circulating methysterol concentration)\n", + " \n", + " \n", + " The concentration of a methysterol in the blood circulation is above the upper limit of normal.\n", + " definition of HP:6001113 (Elevated circulating methysterol concentration)\n", + " \n", + " \n", + " Anterior lenticonus\n", + " definition of HP:0011501 (Anterior lenticonus)\n", + " \n", + " \n", + " A conical projection of the anterior surface of the lens, occurring as a developmental anomaly.\n", + " definition of HP:0011501 (Anterior lenticonus)\n", + " \n", + " \n", + " Abnormal morphology of the musculature of the neck\n", + " definition of HP:0011006 (Abnormal morphology of the musculature of the neck)\n", + " \n", + " \n", + " An abnormality of the neck musculature.\n", + " definition of HP:0011006 (Abnormal morphology of the musculature of the neck)\n", + " \n", + " \n", + " #Abnormality of cervical musculature #Abnormality of the musculature of the neck #Neck muscle issue\n", + " definition of HP:0011006 (Abnormal morphology of the musculature of the neck)\n", + " \n", + " \n", + " Abnormal fetal central nervous system morphology\n", + " definition of HP:0034206 (Abnormal fetal central nervous system morphology)\n", + " \n", + " \n", + " An anomalous structural finding of the fetal central nervous system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.\n", + " definition of HP:0034206 (Abnormal fetal central nervous system morphology)\n", + " \n", + " \n", + " #Abnormal fetal CNS morphology #Abnormal foetal CNS morphology\n", + " definition of HP:0034206 (Abnormal fetal central nervous system morphology)\n", + " \n", + " \n", + " Antihelical shelf\n", + " definition of HP:0011233 (Antihelical shelf)\n", + " \n", + " \n", + " Antihelix protrusion directed more anteriorly than laterally, forming a shelf overlying the posterior concha.\n", + " definition of HP:0011233 (Antihelical shelf)\n", + " \n", + " \n", + " #Conchal shelf\n", + " definition of HP:0011233 (Antihelical shelf)\n", + " \n", + " \n", + " Reticular\n", + " definition of HP:0033818 (Reticular)\n", + " \n", + " \n", + " Applies to an abnormality whose distribution and appearance resembles a net or network-like structure.\n", + " definition of HP:0033818 (Reticular)\n", + " \n", + " \n", + " Dysmorphic inferior cerebellar vermis\n", + " definition of HP:0012460 (Dysmorphic inferior cerebellar vermis)\n", + " \n", + " \n", + " A structural anomaly of the inferior portion of the vermis of cerebellum.\n", + " definition of HP:0012460 (Dysmorphic inferior cerebellar vermis)\n", + " \n", + " \n", + " True distance exotropia\n", + " definition of HP:0031719 (True distance exotropia)\n", + " \n", + " \n", + " Exotropia (intermittent or constant) on distance fixation with binocular single vision on near fixation under all testing conditions. The accommodative convergence/accommodation (AC:A) ratio is within normal limits.\n", + " definition of HP:0031719 (True distance exotropia)\n", + " \n", + " \n", + " Dental enamel pits\n", + " definition of HP:0009722 (Dental enamel pits)\n", + " \n", + " \n", + " The presence of small depressions in the dental enamel.\n", + " definition of HP:0009722 (Dental enamel pits)\n", + " \n", + " \n", + " #Dental enamel pits #Dental enamel pitting #Pitting of tooth enamel #Tooth enamel pits\n", + " definition of HP:0009722 (Dental enamel pits)\n", + " \n", + " \n", + " Elevated urinary isovaleric acid level\n", + " definition of HP:6000434 (Elevated urinary isovaleric acid level)\n", + " \n", + " \n", + " The amount of isovaleric acid in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000434 (Elevated urinary isovaleric acid level)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the 3rd metacarpal\n", + " definition of HP:0010039 (Aplasia/Hypoplasia of the 3rd metacarpal)\n", + " \n", + " \n", + " Aplasia or Hypoplasia affecting the 3rd metacarpal.\n", + " definition of HP:0010039 (Aplasia/Hypoplasia of the 3rd metacarpal)\n", + " \n", + " \n", + " #Absent/small 3rd long bone of hand #Absent/underdeveloped 3rd long bone of hand\n", + " definition of HP:0010039 (Aplasia/Hypoplasia of the 3rd metacarpal)\n", + " \n", + " \n", + " Abdominal aortic calcification\n", + " definition of HP:0031313 (Abdominal aortic calcification)\n", + " \n", + " \n", + " An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in abdominal aorta.\n", + " definition of HP:0031313 (Abdominal aortic calcification)\n", + " \n", + " \n", + " Dermatographic urticaria\n", + " definition of HP:0011971 (Dermatographic urticaria)\n", + " \n", + " \n", + " An exaggerated whealing tendency when the skin is stroked, that is, formation of red, itchy bumps and lines on the skin as a result of pressure on the skin (for instance, stroking the skin with a pen or tongue depressor).\n", + " definition of HP:0011971 (Dermatographic urticaria)\n", + " \n", + " \n", + " #Dermatographism #Dermographism #Skin writing\n", + " definition of HP:0011971 (Dermatographic urticaria)\n", + " \n", + " \n", + " Glomerular hyaline subepithelial deposits\n", + " definition of HP:0033602 (Glomerular hyaline subepithelial deposits)\n", + " \n", + " \n", + " A type of glomerular subepithelial deposit characterized by a moderately electron-dense, generally homogenous, amorphous-appearing extracellular material located between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM. This feature is associated with a prominent GBM reflecting an diffuse and relatively uniform increase in thickness (subjective estimate).\n", + " definition of HP:0033602 (Glomerular hyaline subepithelial deposits)\n", + " \n", + " \n", + " Atrial situs ambiguous\n", + " definition of HP:0011539 (Atrial situs ambiguous)\n", + " \n", + " \n", + " Common atrium without defining morphologic features.\n", + " definition of HP:0011539 (Atrial situs ambiguous)\n", + " \n", + " \n", + " #Atrial heterotaxy #Atrial situs ambiguus\n", + " definition of HP:0011539 (Atrial situs ambiguous)\n", + " \n", + " \n", + " Intrauterine fetal demise of one twin after midgestation\n", + " definition of HP:0030753 (Intrauterine fetal demise of one twin after midgestation)\n", + " \n", + " \n", + " Loss of one twin occurring after midgestation (17 weeks gestation).\n", + " definition of HP:0030753 (Intrauterine fetal demise of one twin after midgestation)\n", + " \n", + " \n", + " #Intrauterine foetal demise of one twin after midgestation\n", + " definition of HP:0030753 (Intrauterine fetal demise of one twin after midgestation)\n", + " \n", + " \n", + " EEG with continuous slow activity\n", + " definition of HP:0011204 (EEG with continuous slow activity)\n", + " \n", + " \n", + " EEG showing diffuse slowing without interruption.\n", + " definition of HP:0011204 (EEG with continuous slow activity)\n", + " \n", + " \n", + " Myeloschisis\n", + " definition of HP:0030708 (Myeloschisis)\n", + " \n", + " \n", + " The severe form of a neural tube defect where the open neural tube appears as a flattened, plate-like mass of nervous tissue with no overlying membrane.\n", + " definition of HP:0030708 (Myeloschisis)\n", + " \n", + " \n", + " Elevated circulating tenascin-C level\n", + " definition of HP:0033115 (Elevated circulating tenascin-C level)\n", + " \n", + " \n", + " Abnormally increased concentration of tenascin-C in the blood circulation.\n", + " definition of HP:0033115 (Elevated circulating tenascin-C level)\n", + " \n", + " \n", + " Triggered by breast feeding\n", + " definition of HP:0025205 (Triggered by breast feeding)\n", + " \n", + " \n", + " Applies to a sign or symptom that is provoked or brought about by breast feeding in an infant.\n", + " definition of HP:0025205 (Triggered by breast feeding)\n", + " \n", + " \n", + " #Breastfeeding triggered symptoms #Triggered by breastfeeding\n", + " definition of HP:0025205 (Triggered by breast feeding)\n", + " \n", + " \n", + " Cone-shaped epiphysis of the proximal phalanx of the 5th finger\n", + " definition of HP:0009155 (Cone-shaped epiphysis of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " A cone-shaped appearance of the epiphysis of the proximal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.\n", + " definition of HP:0009155 (Cone-shaped epiphysis of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " #Cone-shaped end part of the innermost bone of little finger #Cone-shaped end part of the innermost bone of pinkie finger #Cone-shaped end part of the innermost bone of pinky finger\n", + " definition of HP:0009155 (Cone-shaped epiphysis of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " Ineffective esophageal peristalsis\n", + " definition of HP:0031857 (Ineffective esophageal peristalsis)\n", + " \n", + " \n", + " Reduced or inadequate esophageal peristalsis, with resultant slow passage of contents through the esophagus.\n", + " definition of HP:0031857 (Ineffective esophageal peristalsis)\n", + " \n", + " \n", + " #Ineffective esophageal motility\n", + " definition of HP:0031857 (Ineffective esophageal peristalsis)\n", + " \n", + " \n", + " 2-Methylbutyryl glycinuria\n", + " definition of HP:0020147 (2-Methylbutyryl glycinuria)\n", + " \n", + " \n", + " Increased concentration of 2-methylbutyryl glycine in the urine.\n", + " definition of HP:0020147 (2-Methylbutyryl glycinuria)\n", + " \n", + " \n", + " Neutrophilic infiltration of the skin\n", + " definition of HP:0031234 (Neutrophilic infiltration of the skin)\n", + " \n", + " \n", + " A predominantly neutrophilic infiltrate of the dermis and or epidermis (i.e., a large number of neutrophils inferred to have migrated into the skin).\n", + " definition of HP:0031234 (Neutrophilic infiltration of the skin)\n", + " \n", + " \n", + " Sutural cataract\n", + " definition of HP:0010695 (Sutural cataract)\n", + " \n", + " \n", + " A type of congenital cataract in which the opacity follows the anterior or posterior Y suture.\n", + " definition of HP:0010695 (Sutural cataract)\n", + " \n", + " \n", + " Anomalous origin of the right subclavian artery from the descending aorta\n", + " definition of HP:0031632 (Anomalous origin of the right subclavian artery from the descending aorta)\n", + " \n", + " \n", + " Abnormal origin of the right subclavian artery from the descending aorta. The right subclavian artery normally arises from the brachiocephalic trunk, which divides into the right common carotid artery and right subclavian artery.\n", + " definition of HP:0031632 (Anomalous origin of the right subclavian artery from the descending aorta)\n", + " \n", + " \n", + " Triangular epiphyses of the toes\n", + " definition of HP:0010172 (Triangular epiphyses of the toes)\n", + " \n", + " \n", + " #Triangular end part of the toe bones\n", + " definition of HP:0010172 (Triangular epiphyses of the toes)\n", + " \n", + " \n", + " Post-transfusion thrombocytopenia\n", + " definition of HP:0004813 (Post-transfusion thrombocytopenia)\n", + " \n", + " \n", + " Sudden onset of thrombocytopenia (reduced platelet count) within 5-10 days of the transfusion of blood products. The clinical presentation is post-transfusion purpura (PTP), wigth severe thrmbocytopenia, epistaxis, and hemorrhages.\n", + " definition of HP:0004813 (Post-transfusion thrombocytopenia)\n", + " \n", + " \n", + " Bracket epiphysis of the middle phalanx of the 5th finger\n", + " definition of HP:0009204 (Bracket epiphysis of the middle phalanx of the 5th finger)\n", + " \n", + " \n", + " An abnormality of the middle phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.\n", + " definition of HP:0009204 (Bracket epiphysis of the middle phalanx of the 5th finger)\n", + " \n", + " \n", + " #Bracket shaped end part of the middle bone of the little finger #Bracket shaped end part of the middle bone of the pinkie finger #Bracket shaped end part of the middle bone of the pinky finger\n", + " definition of HP:0009204 (Bracket epiphysis of the middle phalanx of the 5th finger)\n", + " \n", + " \n", + " Partial absence of the septum pellucidum\n", + " definition of HP:0030283 (Partial absence of the septum pellucidum)\n", + " \n", + " \n", + " Only part of the septum pellucidum (a thin, triangular, vertical membrane separating the lateral ventricles of the brain) is present. This feature can be appreciated on magnetic resonance tomography or computed tomography of the brain.\n", + " definition of HP:0030283 (Partial absence of the septum pellucidum)\n", + " \n", + " \n", + " Squared superior portion of helix\n", + " definition of HP:0030026 (Squared superior portion of helix)\n", + " \n", + " \n", + " Flattening instead of curving or rounded superior helix, allowing the superior helix to run more horizontally than usual.\n", + " definition of HP:0030026 (Squared superior portion of helix)\n", + " \n", + " \n", + " Uraciluria\n", + " definition of HP:0012127 (Uraciluria)\n", + " \n", + " \n", + " Increased concentration of uracil in the urine.\n", + " definition of HP:0012127 (Uraciluria)\n", + " \n", + " \n", + " #High urine uracil levels\n", + " definition of HP:0012127 (Uraciluria)\n", + " \n", + " \n", + " Pseudoepiphysis of the distal phalanx of the 5th finger\n", + " definition of HP:0009188 (Pseudoepiphysis of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " A secondary ossification center in the distal phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.\n", + " definition of HP:0009188 (Pseudoepiphysis of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " Abnormal Vistech contrast sensitivity test\n", + " definition of HP:0032111 (Abnormal Vistech contrast sensitivity test)\n", + " \n", + " \n", + " An abnormality in perception of contrast as measured by the Vistech wall chart sine wave grating test.\n", + " definition of HP:0032111 (Abnormal Vistech contrast sensitivity test)\n", + " \n", + " \n", + " Abnormal pulmonary situs morphology\n", + " definition of HP:0011615 (Abnormal pulmonary situs morphology)\n", + " \n", + " \n", + " An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, which is defined by characteristics such as the number of lobes per lung and the relationship of the pulmonary arteries to their bronchi.\n", + " definition of HP:0011615 (Abnormal pulmonary situs morphology)\n", + " \n", + " \n", + " #Abnormality of pulmonary situs\n", + " definition of HP:0011615 (Abnormal pulmonary situs morphology)\n", + " \n", + " \n", + " Myelin-like whorls in vacuolated fibers\n", + " definition of HP:0031542 (Myelin-like whorls in vacuolated fibers)\n", + " \n", + " \n", + " Muscle fibers contain one or more vacuoles (membrane-bound cavity) associated with collections of membranes arranged in a whorl-like (spiral or circular) manner.\n", + " definition of HP:0031542 (Myelin-like whorls in vacuolated fibers)\n", + " \n", + " \n", + " #Myelin-like whorls in vacuolated fibres\n", + " definition of HP:0031542 (Myelin-like whorls in vacuolated fibers)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the biceps\n", + " definition of HP:0009782 (Aplasia/Hypoplasia of the biceps)\n", + " \n", + " \n", + " Absence or underdevelopment of the biceps muscle.\n", + " definition of HP:0009782 (Aplasia/Hypoplasia of the biceps)\n", + " \n", + " \n", + " #Absent/small biceps #Absent/underdeveloped biceps\n", + " definition of HP:0009782 (Aplasia/Hypoplasia of the biceps)\n", + " \n", + " \n", + " Bifid ribs\n", + " definition of HP:0000892 (Bifid ribs)\n", + " \n", + " \n", + " A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray.\n", + " definition of HP:0000892 (Bifid ribs)\n", + " \n", + " \n", + " #Cleft ribs #Split ribs\n", + " definition of HP:0000892 (Bifid ribs)\n", + " \n", + " \n", + " Pharyngeal exudate\n", + " definition of HP:0034035 (Pharyngeal exudate)\n", + " \n", + " \n", + " Fluid exuded from the posterior wall of the pharynx.\n", + " definition of HP:0034035 (Pharyngeal exudate)\n", + " \n", + " \n", + " #Fluid from the pharynx #Pharyngeal fluid\n", + " definition of HP:0034035 (Pharyngeal exudate)\n", + " \n", + " \n", + " Reduced glycerol kinase activity in cultured fibroblasts\n", + " definition of HP:4000211 (Reduced glycerol kinase activity in cultured fibroblasts)\n", + " \n", + " \n", + " Activity of glycerol kinase (EC 2.7.1.30) below the lower limit of normal in cultured fibroblasts.\n", + " definition of HP:4000211 (Reduced glycerol kinase activity in cultured fibroblasts)\n", + " \n", + " \n", + " Atransferrinemia\n", + " definition of HP:0012239 (Atransferrinemia)\n", + " \n", + " \n", + " Absence of transferrin, a protein that transports iron, in the blood.\n", + " definition of HP:0012239 (Atransferrinemia)\n", + " \n", + " \n", + " Exercise-induced myoglobinuria\n", + " definition of HP:0008305 (Exercise-induced myoglobinuria)\n", + " \n", + " \n", + " Presence of myoglobin in the urine following exercise.\n", + " definition of HP:0008305 (Exercise-induced myoglobinuria)\n", + " \n", + " \n", + " Non-Mendelian inheritance\n", + " definition of HP:0001426 (Non-Mendelian inheritance)\n", + " \n", + " \n", + " A mode of inheritance that depends on genetic determinants in more than one gene.\n", + " definition of HP:0001426 (Non-Mendelian inheritance)\n", + " \n", + " \n", + " Pace of progression\n", + " definition of HP:0003679 (Pace of progression)\n", + " \n", + " \n", + " Abnormal ventricular axis\n", + " definition of HP:0033566 (Abnormal ventricular axis)\n", + " \n", + " \n", + " Any deviation from the normal direction of the ventricular axis. The left ventricle makes up most of the heart muscle under normal circumstances and therefore generates the most electrical force visible on the EKG. The normal ventricular axis is directed downward and slightly towards the left. The ventricular axis can be determined by analyzing the QRS complex, which represents ventricular depolarization.\n", + " definition of HP:0033566 (Abnormal ventricular axis)\n", + " \n", + " \n", + " #Abnormal QRS axis\n", + " definition of HP:0033566 (Abnormal ventricular axis)\n", + " \n", + " \n", + " Perianal abscess\n", + " definition of HP:0009789 (Perianal abscess)\n", + " \n", + " \n", + " The presence of an abscess located around the anus.\n", + " definition of HP:0009789 (Perianal abscess)\n", + " \n", + " \n", + " Discordant atrioventricular connection\n", + " definition of HP:0011553 (Discordant atrioventricular connection)\n", + " \n", + " \n", + " Connection of the right atrium to the left ventricle and of the left atrium to the right ventricle in a biventricular heart.\n", + " definition of HP:0011553 (Discordant atrioventricular connection)\n", + " \n", + " \n", + " #Discordant atrioventricular connexion\n", + " definition of HP:0011553 (Discordant atrioventricular connection)\n", + " \n", + " \n", + " Decreased hemoglobin concentration\n", + " definition of HP:0020062 (Decreased hemoglobin concentration)\n", + " \n", + " \n", + " An abnormal reduction below normal hemoglobin concentration in the circulation.\n", + " definition of HP:0020062 (Decreased hemoglobin concentration)\n", + " \n", + " \n", + " #Decreased haemoglobin concentration #Decreased Hb concentration\n", + " definition of HP:0020062 (Decreased hemoglobin concentration)\n", + " \n", + " \n", + " Elevated circulating cartilage oligomeric matrix protein concentration\n", + " definition of HP:0033410 (Elevated circulating cartilage oligomeric matrix protein concentration)\n", + " \n", + " \n", + " An increased blood concentration of cartilage oligomeric matrix protein (COMP).\n", + " definition of HP:0033410 (Elevated circulating cartilage oligomeric matrix protein concentration)\n", + " \n", + " \n", + " Excessive purine production\n", + " definition of HP:0003142 (Excessive purine production)\n", + " \n", + " \n", + " Increased circulating IgG concentration\n", + " definition of HP:0003237 (Increased circulating IgG concentration)\n", + " \n", + " \n", + " An abnormally increased level of immunoglobulin G in blood.\n", + " definition of HP:0003237 (Increased circulating IgG concentration)\n", + " \n", + " \n", + " #Increased circulating IgG level #Increased IgG level #Increased levels of IgG #Increased total IgG in blood\n", + " definition of HP:0003237 (Increased circulating IgG concentration)\n", + " \n", + " \n", + " Abnormal exteroceptive sensation\n", + " definition of HP:0033747 (Abnormal exteroceptive sensation)\n", + " \n", + " \n", + " A type of somatic sensory dysfunction characterized by abnormality of superficial sensation that is mediated by receptors in skin and mucous membranes.\n", + " definition of HP:0033747 (Abnormal exteroceptive sensation)\n", + " \n", + " \n", + " Abnormal T-wave\n", + " definition of HP:0005135 (Abnormal T-wave)\n", + " \n", + " \n", + " An abnormality of the T wave on the electrocardiogram, which mainly represents the repolarization of the ventricles.\n", + " definition of HP:0005135 (Abnormal T-wave)\n", + " \n", + " \n", + " #EKG: T-wave abnormalities #T-wave abnormalities\n", + " definition of HP:0005135 (Abnormal T-wave)\n", + " \n", + " \n", + " Increased number of skin folds\n", + " definition of HP:0007522 (Increased number of skin folds)\n", + " \n", + " \n", + " #Increased number of skin folds\n", + " definition of HP:0007522 (Increased number of skin folds)\n", + " \n", + " \n", + " Autistic behavior\n", + " definition of HP:0000729 (Autistic behavior)\n", + " \n", + " \n", + " Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.\n", + " definition of HP:0000729 (Autistic behavior)\n", + " \n", + " \n", + " #ASD #Autistic behaviour #Pervasive developmental disorder\n", + " definition of HP:0000729 (Autistic behavior)\n", + " \n", + " \n", + " Abnormal sclera morphology\n", + " definition of HP:0000591 (Abnormal sclera morphology)\n", + " \n", + " \n", + " An abnormality of the sclera.\n", + " definition of HP:0000591 (Abnormal sclera morphology)\n", + " \n", + " \n", + " #Abnormality of the sclera\n", + " definition of HP:0000591 (Abnormal sclera morphology)\n", + " \n", + " \n", + " Ileus\n", + " definition of HP:0002595 (Ileus)\n", + " \n", + " \n", + " Acute obstruction of the intestines preventing passage of the contents of the intestines.\n", + " definition of HP:0002595 (Ileus)\n", + " \n", + " \n", + " #Gastrointestinal atony\n", + " definition of HP:0002595 (Ileus)\n", + " \n", + " \n", + " Hyperplastic labia majora\n", + " definition of HP:0012882 (Hyperplastic labia majora)\n", + " \n", + " \n", + " Overgrowth of the outer labia.\n", + " definition of HP:0012882 (Hyperplastic labia majora)\n", + " \n", + " \n", + " #Enlarged labia majora #Hyperplasia of labia majora\n", + " definition of HP:0012882 (Hyperplastic labia majora)\n", + " \n", + " \n", + " Fetal cyclophosphamide exposure\n", + " definition of HP:0034850 (Fetal cyclophosphamide exposure)\n", + " \n", + " \n", + " A history of exposure during pregnancy of the mother of a fetus or child to cyclophosphamide.\n", + " definition of HP:0034850 (Fetal cyclophosphamide exposure)\n", + " \n", + " \n", + " #Cyclophosphamide exposure during gestation #Maternal cyclophosphamide exposure\n", + " definition of HP:0034850 (Fetal cyclophosphamide exposure)\n", + " \n", + " \n", + " Synovitis\n", + " definition of HP:0100769 (Synovitis)\n", + " \n", + " \n", + " Meconium xenobiotic\n", + " definition of HP:0500098 (Meconium xenobiotic)\n", + " \n", + " \n", + " Presence of a xenobiotic in meconium.\n", + " definition of HP:0500098 (Meconium xenobiotic)\n", + " \n", + " \n", + " Mild oligozoospermia\n", + " definition of HP:0034816 (Mild oligozoospermia)\n", + " \n", + " \n", + " A type of oligozoospermia characterized by a total number of more than 30 but less than 39 million sperm in the ejaculate or a concentration of more than 10 but less than 15 million sperm per milliliter.\n", + " definition of HP:0034816 (Mild oligozoospermia)\n", + " \n", + " \n", + " Stiff interphalangeal joints\n", + " definition of HP:0005198 (Stiff interphalangeal joints)\n", + " \n", + " \n", + " Interphalangeal joint stiffness is a perceived sensation of tightness in the interphalangeal joints when attempting to move them after a period of inactivity.\n", + " definition of HP:0005198 (Stiff interphalangeal joints)\n", + " \n", + " \n", + " #Stiff hinge joints\n", + " definition of HP:0005198 (Stiff interphalangeal joints)\n", + " \n", + " \n", + " Abnormality of the diaphragm\n", + " definition of HP:0000775 (Abnormality of the diaphragm)\n", + " \n", + " \n", + " Any abnormality of the diaphragm, the sheet of skeletal muscle that separates the thoracic cavity from the abdominal cavity.\n", + " definition of HP:0000775 (Abnormality of the diaphragm)\n", + " \n", + " \n", + " #Abnormality of the diaphragm #Diaphragm issues #Diaphragmatic defect\n", + " definition of HP:0000775 (Abnormality of the diaphragm)\n", + " \n", + " \n", + " Cerebellar malformation\n", + " definition of HP:0002438 (Cerebellar malformation)\n", + " \n", + " \n", + " Abscess\n", + " definition of HP:0025615 (Abscess)\n", + " \n", + " \n", + " An abscess is a localized collection of purulent material surrounded by inflammation and granulation.\n", + " definition of HP:0025615 (Abscess)\n", + " \n", + " \n", + " Cryptorchidism\n", + " definition of HP:0000028 (Cryptorchidism)\n", + " \n", + " \n", + " Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.\n", + " definition of HP:0000028 (Cryptorchidism)\n", + " \n", + " \n", + " #Cryptorchism #Undescended testes #Undescended testis\n", + " definition of HP:0000028 (Cryptorchidism)\n", + " \n", + " \n", + " Alternating exotropia\n", + " definition of HP:0031717 (Alternating exotropia)\n", + " \n", + " \n", + " A type of exotropia in which either eye may be used for fixation.\n", + " definition of HP:0031717 (Alternating exotropia)\n", + " \n", + " \n", + " #Alternating strabismus\n", + " definition of HP:0031717 (Alternating exotropia)\n", + " \n", + " \n", + " Abnormality of hair texture\n", + " definition of HP:0010719 (Abnormality of hair texture)\n", + " \n", + " \n", + " An abnormality of the texture of the hair.\n", + " definition of HP:0010719 (Abnormality of hair texture)\n", + " \n", + " \n", + " #Abnormality of hair texture\n", + " definition of HP:0010719 (Abnormality of hair texture)\n", + " \n", + " \n", + " Nephroblastoma\n", + " definition of HP:0002667 (Nephroblastoma)\n", + " \n", + " \n", + " The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children.\n", + " definition of HP:0002667 (Nephroblastoma)\n", + " \n", + " \n", + " #Wilms tumor #Wilms tumour\n", + " definition of HP:0002667 (Nephroblastoma)\n", + " \n", + " \n", + " Abnormal lymphocyte proliferation\n", + " definition of HP:0031378 (Abnormal lymphocyte proliferation)\n", + " \n", + " \n", + " Any abnormality in the multiplication or reproduction of lymphocytes, which results in the expansion of a cell population.\n", + " definition of HP:0031378 (Abnormal lymphocyte proliferation)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the distal phalanges of the toes\n", + " definition of HP:0010185 (Aplasia/Hypoplasia of the distal phalanges of the toes)\n", + " \n", + " \n", + " Absence or underdevelopment of the distal phalanges of the toes.\n", + " definition of HP:0010185 (Aplasia/Hypoplasia of the distal phalanges of the toes)\n", + " \n", + " \n", + " #Absent/hypoplastic terminal phalanges of toes #Absent/small outermost bones of toe #Absent/underdeveloped outermost bones of toe\n", + " definition of HP:0010185 (Aplasia/Hypoplasia of the distal phalanges of the toes)\n", + " \n", + " \n", + " Chronic idiopathic urticaria\n", + " definition of HP:0410133 (Chronic idiopathic urticaria)\n", + " \n", + " \n", + " Urticaria characterized by spontaneously recurring hives for 6 weeks or longer.\n", + " definition of HP:0410133 (Chronic idiopathic urticaria)\n", + " \n", + " \n", + " #Chronic spontaneous urticaria #CIU #CSU\n", + " definition of HP:0410133 (Chronic idiopathic urticaria)\n", + " \n", + " \n", + " Vertebral fusion\n", + " definition of HP:0002948 (Vertebral fusion)\n", + " \n", + " \n", + " A developmental defect leading to the union of two adjacent vertebrae.\n", + " definition of HP:0002948 (Vertebral fusion)\n", + " \n", + " \n", + " #Congenital spinal fusion #Congenitally fused vertebrae #Fusion of vertebral bodies #Vertebral body fusion\n", + " definition of HP:0002948 (Vertebral fusion)\n", + " \n", + " \n", + " Severely reduced contrast sensitivity\n", + " definition of HP:0032110 (Severely reduced contrast sensitivity)\n", + " \n", + " \n", + " A severe reduction in the ability to perceive visual contrast characterized by 1.00 log unit or more contrast sensitivity loss.\n", + " definition of HP:0032110 (Severely reduced contrast sensitivity)\n", + " \n", + " \n", + " Right sided atrium to left ventricle and absent left sided atrioventricular connection\n", + " definition of HP:0011551 (Right sided atrium to left ventricle and absent left sided atrioventricular connection)\n", + " \n", + " \n", + " #Right sided atrium to left ventricle and absent left sided atrioventricular connexion\n", + " definition of HP:0011551 (Right sided atrium to left ventricle and absent left sided atrioventricular connection)\n", + " \n", + " \n", + " Presyncope\n", + " definition of HP:0031972 (Presyncope)\n", + " \n", + " \n", + " Presyncope is a state of lightheadedness, muscular weakness, blurred vision, and feeling faint. Presyncope is most often cardiovascular in cause.\n", + " definition of HP:0031972 (Presyncope)\n", + " \n", + " \n", + " Trousseau sign\n", + " definition of HP:6000919 (Trousseau sign)\n", + " \n", + " \n", + " After inflating a blood pressure cuff from 10 mm Hg to 20 mm Hg over the patient's systolic blood pressure, the Trousseau sign is considered positive if carpal spasm develops, with flexion of the thumb and adduction of the finger within 3 minutes. However, this can be painful, so the time should be noted, and the cuff should be deflated once the test is positive.\n", + " definition of HP:6000919 (Trousseau sign)\n", + " \n", + " \n", + " #Carpal spasm\n", + " definition of HP:6000919 (Trousseau sign)\n", + " \n", + " \n", + " Abnormal periventricular white matter morphology\n", + " definition of HP:0002518 (Abnormal periventricular white matter morphology)\n", + " \n", + " \n", + " A structural abnormality of the myelinated axons (white matter) located near the cerebral ventricles.\n", + " definition of HP:0002518 (Abnormal periventricular white matter morphology)\n", + " \n", + " \n", + " #Abnormality of the periventricular white matter\n", + " definition of HP:0002518 (Abnormal periventricular white matter morphology)\n", + " \n", + " \n", + " Abnormal lymph node morphology\n", + " definition of HP:0002733 (Abnormal lymph node morphology)\n", + " \n", + " \n", + " A structural lymph node abnormality.\n", + " definition of HP:0002733 (Abnormal lymph node morphology)\n", + " \n", + " \n", + " #Abnormal lymph node histology #Abnormality of the lymph nodes\n", + " definition of HP:0002733 (Abnormal lymph node morphology)\n", + " \n", + " \n", + " CSF treponemal antibody positivity\n", + " definition of HP:6000767 (CSF treponemal antibody positivity)\n", + " \n", + " \n", + " The presence of antibodies in the cerebrospinal fluid (CSF) that react against a component of treponema pallidum (syphilis).\n", + " definition of HP:6000767 (CSF treponemal antibody positivity)\n", + " \n", + " \n", + " #Positive CSF fluorescent treponemal antibody absorption #Positive CSF Treponema pallidum hemoagglutination assay #Positive CSF Treponema pallidum particle agglutination test\n", + " definition of HP:6000767 (CSF treponemal antibody positivity)\n", + " \n", + " \n", + " Glomerular endothelial tubuloreticular inclusion\n", + " definition of HP:0033275 (Glomerular endothelial tubuloreticular inclusion)\n", + " \n", + " \n", + " Inter-anastomosing tubular structures located within cisternae of endoplasmic reticulum, most often within endothelial cells and associated with exposure to interferon.\n", + " definition of HP:0033275 (Glomerular endothelial tubuloreticular inclusion)\n", + " \n", + " \n", + " Decreased cirrculating antimullerian hormone circulation\n", + " definition of HP:0031103 (Decreased cirrculating antimullerian hormone circulation)\n", + " \n", + " \n", + " A reduction below the normal range of the antimullerian hormone in the circulation.\n", + " definition of HP:0031103 (Decreased cirrculating antimullerian hormone circulation)\n", + " \n", + " \n", + " #Anti-Mullerian hormone low #Decreased antimullerian hormone level #Decreased plasma AMH\n", + " definition of HP:0031103 (Decreased cirrculating antimullerian hormone circulation)\n", + " \n", + " \n", + " Smooth septal thickening on pulmonary HRCT\n", + " definition of HP:0025172 (Smooth septal thickening on pulmonary HRCT)\n", + " \n", + " \n", + " Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a smooth appearance of the interlobular septa.\n", + " definition of HP:0025172 (Smooth septal thickening on pulmonary HRCT)\n", + " \n", + " \n", + " Hematochezia\n", + " definition of HP:0002573 (Hematochezia)\n", + " \n", + " \n", + " The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus.\n", + " definition of HP:0002573 (Hematochezia)\n", + " \n", + " \n", + " #Rectal bleeding\n", + " definition of HP:0002573 (Hematochezia)\n", + " \n", + " \n", + " Prominent protruding coccyx\n", + " definition of HP:0008472 (Prominent protruding coccyx)\n", + " \n", + " \n", + " #Prominent protruding tailbone\n", + " definition of HP:0008472 (Prominent protruding coccyx)\n", + " \n", + " \n", + " Curly hair\n", + " definition of HP:0002212 (Curly hair)\n", + " \n", + " \n", + " #Curly hair\n", + " definition of HP:0002212 (Curly hair)\n", + " \n", + " \n", + " Absence of labia majora\n", + " definition of HP:0008729 (Absence of labia majora)\n", + " \n", + " \n", + " #Absent vaginal lips\n", + " definition of HP:0008729 (Absence of labia majora)\n", + " \n", + " \n", + " Reduced tissue guanidinoacetate methyltransferase activity\n", + " definition of HP:6000722 (Reduced tissue guanidinoacetate methyltransferase activity)\n", + " \n", + " \n", + " Activity of the mitochondrial enzyme guanidinoacetate methyltransferase in tissues below the lower limit of normal. The activity can be measured in multiple tissues including culutured fibroblasts.\n", + " definition of HP:6000722 (Reduced tissue guanidinoacetate methyltransferase activity)\n", + " \n", + " \n", + " Abnormal coccyx morphology\n", + " definition of HP:0008519 (Abnormal coccyx morphology)\n", + " \n", + " \n", + " Any structural abnormality of the coccyx.\n", + " definition of HP:0008519 (Abnormal coccyx morphology)\n", + " \n", + " \n", + " #Abnormal tailbone #Abnormality of the coccyx\n", + " definition of HP:0008519 (Abnormal coccyx morphology)\n", + " \n", + " \n", + " Anti-GM1 antibody positivity\n", + " definition of HP:0034103 (Anti-GM1 antibody positivity)\n", + " \n", + " \n", + " Ganglioside-monosialic acid (GM1) is a type of glycosphingolipid with one sialic acid. GM1 is located on the outer layer of the plasma membrane, and plays a vital role in neurogenesis, nerve development, differentiation and repair after injury\n", + " definition of HP:0034103 (Anti-GM1 antibody positivity)\n", + " \n", + " \n", + " #Anti-ganglioside-monosialic acid antibody positivity\n", + " definition of HP:0034103 (Anti-GM1 antibody positivity)\n", + " \n", + " \n", + " Abnormal hippocampus morphology\n", + " definition of HP:0025100 (Abnormal hippocampus morphology)\n", + " \n", + " \n", + " Any structural anomaly of the hippocampus,\n", + " definition of HP:0025100 (Abnormal hippocampus morphology)\n", + " \n", + " \n", + " #Abnormal morphology of the hippocampus #Abnormality of hippocampus morphology\n", + " definition of HP:0025100 (Abnormal hippocampus morphology)\n", + " \n", + " \n", + " Blood group O\n", + " definition of HP:0032442 (Blood group O)\n", + " \n", + " \n", + " ABO phenotype O, corresponding to the genotype OO.\n", + " definition of HP:0032442 (Blood group O)\n", + " \n", + " \n", + " Middle cerebral artery stenosis\n", + " definition of HP:0012493 (Middle cerebral artery stenosis)\n", + " \n", + " \n", + " Narrowing or constriction of the inner surface (lumen) of the middle cerebral artery.\n", + " definition of HP:0012493 (Middle cerebral artery stenosis)\n", + " \n", + " \n", + " Aortic smooth muscle cell nuclei loss\n", + " definition of HP:0032086 (Aortic smooth muscle cell nuclei loss)\n", + " \n", + " \n", + " A region of the aortic media in which smooth muscle cell nuclei, involving multiple lamellae, are not clearly identifiable on an hematoxylin and eosin stain.\n", + " definition of HP:0032086 (Aortic smooth muscle cell nuclei loss)\n", + " \n", + " \n", + " Increased red cell osmotic resistance\n", + " definition of HP:0005546 (Increased red cell osmotic resistance)\n", + " \n", + " \n", + " Blue irides\n", + " definition of HP:0000635 (Blue irides)\n", + " \n", + " \n", + " A markedly blue coloration of the iris.\n", + " definition of HP:0000635 (Blue irides)\n", + " \n", + " \n", + " #Blue eyes\n", + " definition of HP:0000635 (Blue irides)\n", + " \n", + " \n", + " Decreased forced expiratory flow 25-75%\n", + " definition of HP:0032359 (Decreased forced expiratory flow 25-75%)\n", + " \n", + " \n", + " A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled.\n", + " definition of HP:0032359 (Decreased forced expiratory flow 25-75%)\n", + " \n", + " \n", + " #Decreased FEF25-75%\n", + " definition of HP:0032359 (Decreased forced expiratory flow 25-75%)\n", + " \n", + " \n", + " Penile corporal blood gas ischemia\n", + " definition of HP:6000625 (Penile corporal blood gas ischemia)\n", + " \n", + " \n", + " Partial pressure of oxygen (pO2) in cavernous blood of the penis is below the lower limit of normal.\n", + " definition of HP:6000625 (Penile corporal blood gas ischemia)\n", + " \n", + " \n", + " Abnormality of the distal phalanx of the hallux\n", + " definition of HP:0010053 (Abnormality of the distal phalanx of the hallux)\n", + " \n", + " \n", + " #Abnormality of the outermost bone of the big toe\n", + " definition of HP:0010053 (Abnormality of the distal phalanx of the hallux)\n", + " \n", + " \n", + " Median cleft upper lip\n", + " definition of HP:0000161 (Median cleft upper lip)\n", + " \n", + " \n", + " A type of cleft lip presenting as a midline (median) gap in the upper lip.\n", + " definition of HP:0000161 (Median cleft upper lip)\n", + " \n", + " \n", + " #Central cleft upper lip #Midline cleft lip\n", + " definition of HP:0000161 (Median cleft upper lip)\n", + " \n", + " \n", + " Focal sensory seizure with somatosensory features\n", + " definition of HP:0011163 (Focal sensory seizure with somatosensory features)\n", + " \n", + " \n", + " A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move as its first clinical manifestation.\n", + " definition of HP:0011163 (Focal sensory seizure with somatosensory features)\n", + " \n", + " \n", + " #Focal somatosensory seizure #Partial somatosensory seizure #Somatosensory aura #Somatosensory auras\n", + " definition of HP:0011163 (Focal sensory seizure with somatosensory features)\n", + " \n", + " \n", + " Cystic artery pseudoaneurysm\n", + " definition of HP:0030170 (Cystic artery pseudoaneurysm)\n", + " \n", + " \n", + " Presence of a pseudoaneurysm in the artery that supplies the gallbladder and cystic duct with blood. A pseudoaneurysm, also known as a false aneurysm, forms when blood leaks through a breach of the arterial wall but is contained by the adventitia or surrounding perivascular soft tissue.\n", + " definition of HP:0030170 (Cystic artery pseudoaneurysm)\n", + " \n", + " \n", + " Cold intolerance\n", + " definition of HP:6000855 (Cold intolerance)\n", + " \n", + " \n", + " The inability to maintain a comfortable body temperature in a cold environment or cold temperatures.\n", + " definition of HP:6000855 (Cold intolerance)\n", + " \n", + " \n", + " #Cold sensitivity\n", + " definition of HP:6000855 (Cold intolerance)\n", + " \n", + " \n", + " EEG with focal sharp waves\n", + " definition of HP:0011196 (EEG with focal sharp waves)\n", + " \n", + " \n", + " EEG with focal sharp transient waves of a duration between 80 and 200 msec.\n", + " definition of HP:0011196 (EEG with focal sharp waves)\n", + " \n", + " \n", + " Focal segmental glomerulosclerosis\n", + " definition of HP:0000097 (Focal segmental glomerulosclerosis)\n", + " \n", + " \n", + " Segmental accumulation of scar tissue in individual (but not all) glomeruli.\n", + " definition of HP:0000097 (Focal segmental glomerulosclerosis)\n", + " \n", + " \n", + " #Focal and segmental glomerular sclerosis #Focal and segmental glomerulosclerosis #focal glomerulosclerosis\n", + " definition of HP:0000097 (Focal segmental glomerulosclerosis)\n", + " \n", + " \n", + " Chronic partially decreased circulating IgG4\n", + " definition of HP:0041060 (Chronic partially decreased circulating IgG4)\n", + " \n", + " \n", + " A lasting limited decrease of immunoglobulin G4 (IgG4) in the blood.\n", + " definition of HP:0041060 (Chronic partially decreased circulating IgG4)\n", + " \n", + " \n", + " #Chronic partially decreased IgG4 in blood\n", + " definition of HP:0041060 (Chronic partially decreased circulating IgG4)\n", + " \n", + " \n", + " Folate-responsive megaloblastic anemia\n", + " definition of HP:0004851 (Folate-responsive megaloblastic anemia)\n", + " \n", + " \n", + " A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of folate.\n", + " definition of HP:0004851 (Folate-responsive megaloblastic anemia)\n", + " \n", + " \n", + " #Folate-responsive megaloblastic anaemia\n", + " definition of HP:0004851 (Folate-responsive megaloblastic anemia)\n", + " \n", + " \n", + " Focal cognitive seizure with forced thinking\n", + " definition of HP:0032692 (Focal cognitive seizure with forced thinking)\n", + " \n", + " \n", + " A focal cognitive seizure characterized by forced thinking as the initial semiological manifestation.\n", + " definition of HP:0032692 (Focal cognitive seizure with forced thinking)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the distal phalanx of the thumb\n", + " definition of HP:0009641 (Aplasia/Hypoplasia of the distal phalanx of the thumb)\n", + " \n", + " \n", + " #Absent/small outermost thumb bone #Absent/underdeveloped outermost thumb bone\n", + " definition of HP:0009641 (Aplasia/Hypoplasia of the distal phalanx of the thumb)\n", + " \n", + " \n", + " Late onset\n", + " definition of HP:0003584 (Late onset)\n", + " \n", + " \n", + " A type of adult onset with onset of symptoms after the age of 60 years.\n", + " definition of HP:0003584 (Late onset)\n", + " \n", + " \n", + " Clumping of lymph node lymphocyte chromatin\n", + " definition of HP:0020283 (Clumping of lymph node lymphocyte chromatin)\n", + " \n", + " \n", + " Nuclei of lymphocytes show multiple small densely packed areas of chromatin that appear as relatively evenly spaced clumps of basophilic (blue) staining within the nuclei on Hematoxylin and eosin (H&E) stained sections.\n", + " definition of HP:0020283 (Clumping of lymph node lymphocyte chromatin)\n", + " \n", + " \n", + " Fetal akinesia sequence\n", + " definition of HP:0001989 (Fetal akinesia sequence)\n", + " \n", + " \n", + " Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia).\n", + " definition of HP:0001989 (Fetal akinesia sequence)\n", + " \n", + " \n", + " #Foetal akinesia sequence\n", + " definition of HP:0001989 (Fetal akinesia sequence)\n", + " \n", + " \n", + " Fragmentation of the epiphysis of the middle phalanx of the 2nd finger\n", + " definition of HP:0009517 (Fragmentation of the epiphysis of the middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Fragmentation of end part of the middle long bone of the index finger\n", + " definition of HP:0009517 (Fragmentation of the epiphysis of the middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " Posterior uveitis\n", + " definition of HP:0012123 (Posterior uveitis)\n", + " \n", + " \n", + " Inflammation of the uveal tract in which the primary site of inflammation is the retina or choroid.\n", + " definition of HP:0012123 (Posterior uveitis)\n", + " \n", + " \n", + " #Choroiditis\n", + " definition of HP:0012123 (Posterior uveitis)\n", + " \n", + " \n", + " Absent muscle fiber gamma sarcoglycan\n", + " definition of HP:0030109 (Absent muscle fiber gamma sarcoglycan)\n", + " \n", + " \n", + " Immunohistochemistry shows complete lack of gamma sarcoglycan protein in the muscle biopsy.\n", + " definition of HP:0030109 (Absent muscle fiber gamma sarcoglycan)\n", + " \n", + " \n", + " #Absent muscle fibre gamma sarcoglycan\n", + " definition of HP:0030109 (Absent muscle fiber gamma sarcoglycan)\n", + " \n", + " \n", + " Elevated circulating creatine concentration\n", + " definition of HP:0034291 (Elevated circulating creatine concentration)\n", + " \n", + " \n", + " An elevation above the normal range of creatine in the blood circulation.\n", + " definition of HP:0034291 (Elevated circulating creatine concentration)\n", + " \n", + " \n", + " Abnormal anterior fontanelle morphology\n", + " definition of HP:0000236 (Abnormal anterior fontanelle morphology)\n", + " \n", + " \n", + " An abnormality of the anterior fontanelle, i.e., the cranial fontanelle that is located at the intersection of the coronal and sagittal sutures.\n", + " definition of HP:0000236 (Abnormal anterior fontanelle morphology)\n", + " \n", + " \n", + " #Abnormality of the anterior fontanelle #Abnormality of the forehead soft spot\n", + " definition of HP:0000236 (Abnormal anterior fontanelle morphology)\n", + " \n", + " \n", + " Violent behavior\n", + " definition of HP:0008760 (Violent behavior)\n", + " \n", + " \n", + " Conduct and/or behavior, both verbal and non-verbal, including but not limited to verbal and/or physical aggression, attacks, threats, harassment, intimidation, and other disruptive behaviors in any form or through any medium, that cause or have the potential to cause a reasonable person to fear physical harm from any individual(s) or group(s) towards any person(s) or property. This is commonly defined as a violent act characterized by the use of physical force, anger, or sudden intense activity.\n", + " definition of HP:0008760 (Violent behavior)\n", + " \n", + " \n", + " #Violent behavior #Violent behaviour\n", + " definition of HP:0008760 (Violent behavior)\n", + " \n", + " \n", + " Anti-GQ1b antibody positivity\n", + " definition of HP:0034122 (Anti-GQ1b antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside Q1b.\n", + " definition of HP:0034122 (Anti-GQ1b antibody positivity)\n", + " \n", + " \n", + " Long segment coarctation of the aorta\n", + " definition of HP:0031054 (Long segment coarctation of the aorta)\n", + " \n", + " \n", + " Coarctation of the aorta is a narrowing or constriction of a long segment of the arch of the aorta.\n", + " definition of HP:0031054 (Long segment coarctation of the aorta)\n", + " \n", + " \n", + " ST segment elevation\n", + " definition of HP:0012251 (ST segment elevation)\n", + " \n", + " \n", + " An electrocardiographic anomaly in which the ST segment is observed to be located superior to the isoelectric line.\n", + " definition of HP:0012251 (ST segment elevation)\n", + " \n", + " \n", + " Small epiphysis of the middle phalanx of the 3rd finger\n", + " definition of HP:0009329 (Small epiphysis of the middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms.\n", + " definition of HP:0009329 (Small epiphysis of the middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Small end part of the middle bone of the middle finger\n", + " definition of HP:0009329 (Small epiphysis of the middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " Anterior hypopituitarism\n", + " definition of HP:0000830 (Anterior hypopituitarism)\n", + " \n", + " \n", + " A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone.\n", + " definition of HP:0000830 (Anterior hypopituitarism)\n", + " \n", + " \n", + " Pinhole visual acuity 0.5 LogMAR\n", + " definition of HP:0030573 (Pinhole visual acuity 0.5 LogMAR)\n", + " \n", + " \n", + " Subcortical U fiber lesion\n", + " definition of HP:6000995 (Subcortical U fiber lesion)\n", + " \n", + " \n", + " Abnormal morphology of subcortical U fibers, typically as assessed by abnromal intensity on magnetic resonance imaging of the brain.\n", + " definition of HP:6000995 (Subcortical U fiber lesion)\n", + " \n", + " \n", + " #Subcortical U fiber involvement\n", + " definition of HP:6000995 (Subcortical U fiber lesion)\n", + " \n", + " \n", + " CSF lymphocytic pleiocytosis\n", + " definition of HP:0200149 (CSF lymphocytic pleiocytosis)\n", + " \n", + " \n", + " An increased lymphocyte count in the cerebrospinal fluid.\n", + " definition of HP:0200149 (CSF lymphocytic pleiocytosis)\n", + " \n", + " \n", + " #CSF lymphocytosis\n", + " definition of HP:0200149 (CSF lymphocytic pleiocytosis)\n", + " \n", + " \n", + " Fragmentation of the epiphysis of the proximal phalanx of the 2nd toe\n", + " definition of HP:0100126 (Fragmentation of the epiphysis of the proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Fragmentation of the end part of the innermost bone of the 2nd toe\n", + " definition of HP:0100126 (Fragmentation of the epiphysis of the proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Anti-beta 2 glycoprotein I antibody positivity\n", + " definition of HP:0032376 (Anti-beta 2 glycoprotein I antibody positivity)\n", + " \n", + " \n", + " Presence of antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome (APS).\n", + " definition of HP:0032376 (Anti-beta 2 glycoprotein I antibody positivity)\n", + " \n", + " \n", + " #Anti-B2GPI positivity\n", + " definition of HP:0032376 (Anti-beta 2 glycoprotein I antibody positivity)\n", + " \n", + " \n", + " Absent pigmentation of the abdomen\n", + " definition of HP:0012319 (Absent pigmentation of the abdomen)\n", + " \n", + " \n", + " Lack of skin pigmentation (coloring) of the abdomen.\n", + " definition of HP:0012319 (Absent pigmentation of the abdomen)\n", + " \n", + " \n", + " Difficulty understanding nonliteral meaning of conversation\n", + " definition of HP:5200116 (Difficulty understanding nonliteral meaning of conversation)\n", + " \n", + " \n", + " Patchy sclerosis of the middle phalanx of the 3rd toe\n", + " definition of HP:0100461 (Patchy sclerosis of the middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Uneven increase in bone density in the middle bone of the 3rd toe\n", + " definition of HP:0100461 (Patchy sclerosis of the middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " Vertebrobasilar dolichoectasia\n", + " definition of HP:0020038 (Vertebrobasilar dolichoectasia)\n", + " \n", + " \n", + " Elongation, dilatation, and/or tortuosity of the vertebrobasilar segment. The definition of VBD includes: (i) diameter of basilar or vertebral artery over 4.5 mm; or (ii) deviation of any portion more than 10 mm from the shortest expected course; and (iii) length of basilar artery over 29.5 mm or length of intracranial vertebral artery over 23.5 mm.\n", + " definition of HP:0020038 (Vertebrobasilar dolichoectasia)\n", + " \n", + " \n", + " Episodic hypokalemia\n", + " definition of HP:0012726 (Episodic hypokalemia)\n", + " \n", + " \n", + " An abnormally decreased potassium concentration in the blood occurring periodically with a return to normal between the episodes.\n", + " definition of HP:0012726 (Episodic hypokalemia)\n", + " \n", + " \n", + " #Recurrent low potassium\n", + " definition of HP:0012726 (Episodic hypokalemia)\n", + " \n", + " \n", + " Hypoautofluorescent macular lesion\n", + " definition of HP:0030632 (Hypoautofluorescent macular lesion)\n", + " \n", + " \n", + " Decreased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging.\n", + " definition of HP:0030632 (Hypoautofluorescent macular lesion)\n", + " \n", + " \n", + " #Hypo-autofluorescent macular lesion\n", + " definition of HP:0030632 (Hypoautofluorescent macular lesion)\n", + " \n", + " \n", + " Long toe\n", + " definition of HP:0010511 (Long toe)\n", + " \n", + " \n", + " Toes that appear disproportionately long compared to the foot.\n", + " definition of HP:0010511 (Long toe)\n", + " \n", + " \n", + " #Increased length of toes #Long toe #Long toes\n", + " definition of HP:0010511 (Long toe)\n", + " \n", + " \n", + " Post-vaccination rotavirus infection\n", + " definition of HP:0020091 (Post-vaccination rotavirus infection)\n", + " \n", + " \n", + " Infection with live attenuated rotavirus vaccine following vaccination.\n", + " definition of HP:0020091 (Post-vaccination rotavirus infection)\n", + " \n", + " \n", + " Positive CSF varicella zoster virus nucleic acid test\n", + " definition of HP:0430138 (Positive CSF varicella zoster virus nucleic acid test)\n", + " \n", + " \n", + " Detection of Varicella zoster virus nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction.\n", + " definition of HP:0430138 (Positive CSF varicella zoster virus nucleic acid test)\n", + " \n", + " \n", + " #Positive CSF varicella zoster virus PCR #Varicella zoster virus PCR in CSF positive\n", + " definition of HP:0430138 (Positive CSF varicella zoster virus nucleic acid test)\n", + " \n", + " \n", + " Periorificial hyperkeratosis\n", + " definition of HP:0034521 (Periorificial hyperkeratosis)\n", + " \n", + " \n", + " Scaling and overgrowth of horny tissue of the skin surrounding body orifices (including peri-auricular, peri-oral, peri-anal areas.\n", + " definition of HP:0034521 (Periorificial hyperkeratosis)\n", + " \n", + " \n", + " Progressive gait ataxia\n", + " definition of HP:0007240 (Progressive gait ataxia)\n", + " \n", + " \n", + " A type of gait ataxia displaying progression of clinical severity.\n", + " definition of HP:0007240 (Progressive gait ataxia)\n", + " \n", + " \n", + " #Gait ataxia, progressive\n", + " definition of HP:0007240 (Progressive gait ataxia)\n", + " \n", + " \n", + " Abnormal OCT-measured foveal thickness\n", + " definition of HP:0030617 (Abnormal OCT-measured foveal thickness)\n", + " \n", + " \n", + " Palmar warts\n", + " definition of HP:0033004 (Palmar warts)\n", + " \n", + " \n", + " Multiple verrucous lesions on the skin of the palm. These lesions are raised, have a thickened and rough surface, and may display prominent black dots (thrombosed capillaries). Palmar warts are caused by human papillomavirus (HPV).\n", + " definition of HP:0033004 (Palmar warts)\n", + " \n", + " \n", + " Curved 3rd toe phalanx\n", + " definition of HP:0010362 (Curved 3rd toe phalanx)\n", + " \n", + " \n", + " A deviation from the normal straight form of one or more phalanges of the third toe.\n", + " definition of HP:0010362 (Curved 3rd toe phalanx)\n", + " \n", + " \n", + " #Curved bones of 3rd toe #Curved phalanges of the 3rd toe\n", + " definition of HP:0010362 (Curved 3rd toe phalanx)\n", + " \n", + " \n", + " Thickened Descemet membrane\n", + " definition of HP:6000312 (Thickened Descemet membrane)\n", + " \n", + " \n", + " The thickness of the Descement membrane is above the upper limit of normal.\n", + " definition of HP:6000312 (Thickened Descemet membrane)\n", + " \n", + " \n", + " #Thick Descemet membrane\n", + " definition of HP:6000312 (Thickened Descemet membrane)\n", + " \n", + " \n", + " Decreased circulating vitamin B8 concentration\n", + " definition of HP:0100506 (Decreased circulating vitamin B8 concentration)\n", + " \n", + " \n", + " The concentration of vitamin B8 in the blood circulation is below the lower limit of normal.\n", + " definition of HP:0100506 (Decreased circulating vitamin B8 concentration)\n", + " \n", + " \n", + " #Low levels of vitamin B8 #Vitamin B8 deficiency\n", + " definition of HP:0100506 (Decreased circulating vitamin B8 concentration)\n", + " \n", + " \n", + " Patchy sclerosis of the middle phalanx of the 3rd finger\n", + " definition of HP:0009434 (Patchy sclerosis of the middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " Uneven (irregular) increase in bone density of the middle phalanx of the third finger.\n", + " definition of HP:0009434 (Patchy sclerosis of the middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Uneven increase in bone density in the middle bone of the middle finger\n", + " definition of HP:0009434 (Patchy sclerosis of the middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " Triangular humerus\n", + " definition of HP:0003884 (Triangular humerus)\n", + " \n", + " \n", + " #Triangular long bone of upper arm\n", + " definition of HP:0003884 (Triangular humerus)\n", + " \n", + " \n", + " Beaking of vertebral bodies T12-L3\n", + " definition of HP:0004562 (Beaking of vertebral bodies T12-L3)\n", + " \n", + " \n", + " Separate origin of the left anterior descending and left circumflex artery\n", + " definition of HP:0031536 (Separate origin of the left anterior descending and left circumflex artery)\n", + " \n", + " \n", + " Anomalous coronary origin whereby the left anterior descending (LAD) and the left circumflex artery (LCX) arise separately. Normally, these arteries arise from a common stem, the left main coronary artery (LMCA).\n", + " definition of HP:0031536 (Separate origin of the left anterior descending and left circumflex artery)\n", + " \n", + " \n", + " Lunate-triquetral fusion\n", + " definition of HP:0004251 (Lunate-triquetral fusion)\n", + " \n", + " \n", + " Osseous fusion of the lunate and triquetrum.\n", + " definition of HP:0004251 (Lunate-triquetral fusion)\n", + " \n", + " \n", + " #Lunotriquetral synostosis\n", + " definition of HP:0004251 (Lunate-triquetral fusion)\n", + " \n", + " \n", + " Reduced muscle fiber laminin beta 1\n", + " definition of HP:0030094 (Reduced muscle fiber laminin beta 1)\n", + " \n", + " \n", + " A reduced amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1.\n", + " definition of HP:0030094 (Reduced muscle fiber laminin beta 1)\n", + " \n", + " \n", + " #Reduced muscle fibre laminin beta 1\n", + " definition of HP:0030094 (Reduced muscle fiber laminin beta 1)\n", + " \n", + " \n", + " Atrial cardiomyopathy\n", + " definition of HP:0200127 (Atrial cardiomyopathy)\n", + " \n", + " \n", + " Any complex of structural, architectural, contractile or electrophysiological changes affecting the atria with the potential to produce clinically relevant manifestations.\n", + " definition of HP:0200127 (Atrial cardiomyopathy)\n", + " \n", + " \n", + " Angiofibromas\n", + " definition of HP:0010615 (Angiofibromas)\n", + " \n", + " \n", + " Angiofibroma consist of many often dilated vessels.\n", + " definition of HP:0010615 (Angiofibromas)\n", + " \n", + " \n", + " Elevated urine trihydroxycholestanoic acid level\n", + " definition of HP:6000393 (Elevated urine trihydroxycholestanoic acid level)\n", + " \n", + " \n", + " Presence of trihydroxycholestanoic acid in the urine. Trihydroxycholestanoic acid is an intermediate in the biosynthesis of cholic acid. Elevated plasma levels of trihydroxycholestanoic acid have been found in patients with Zellweger syndrome.\n", + " definition of HP:6000393 (Elevated urine trihydroxycholestanoic acid level)\n", + " \n", + " \n", + " #Elevated urine THCA level #Elevated urine trihydroxycoprostanic acid level\n", + " definition of HP:6000393 (Elevated urine trihydroxycholestanoic acid level)\n", + " \n", + " \n", + " Anomalous coronary artery arising from the opposite sinus\n", + " definition of HP:0025503 (Anomalous coronary artery arising from the opposite sinus)\n", + " \n", + " \n", + " Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva.\n", + " definition of HP:0025503 (Anomalous coronary artery arising from the opposite sinus)\n", + " \n", + " \n", + " Renal tubular adenovirus inclusions\n", + " definition of HP:0032954 (Renal tubular adenovirus inclusions)\n", + " \n", + " \n", + " Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. The inclusions stain positive for adenovirus (e.g., Figure 3 of PMID:29273157). Distal tubules are more commonly involved than proximal tubules. Occasionally glomerular visceral and parietal epithelial cells can be infected. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage.\n", + " definition of HP:0032954 (Renal tubular adenovirus inclusions)\n", + " \n", + " \n", + " Semantic dementia\n", + " definition of HP:0030219 (Semantic dementia)\n", + " \n", + " \n", + " A progressive loss of the ability to remember the meaning of words, faces and objects.\n", + " definition of HP:0030219 (Semantic dementia)\n", + " \n", + " \n", + " Metaphyseal widening\n", + " definition of HP:0003016 (Metaphyseal widening)\n", + " \n", + " \n", + " Abnormal widening of the metaphyseal regions of long bones.\n", + " definition of HP:0003016 (Metaphyseal widening)\n", + " \n", + " \n", + " #Broad wide portion of long bone #Wide metaphyses #Widened long bone metaphyses #Widened metaphyses\n", + " definition of HP:0003016 (Metaphyseal widening)\n", + " \n", + " \n", + " Abnormal urine D-xylose test\n", + " definition of HP:6001082 (Abnormal urine D-xylose test)\n", + " \n", + " \n", + " An abnormal result of the xylose absorption test that is used to assess the ability of the intestines to absorb D-xylose. D-xylose is a five-carbon monosaccharide found in some plants. The patient drinks a solution containing a specific amount of D-xylose and the concentration of xylose is measured in the blood circulation and then in the urine. A low amount of D-xylose indicates reduced small intestinal absorbtion.\n", + " definition of HP:6001082 (Abnormal urine D-xylose test)\n", + " \n", + " \n", + " Leg muscle stiffness\n", + " definition of HP:0008969 (Leg muscle stiffness)\n", + " \n", + " \n", + " Abnormal sebaceous gland morphology\n", + " definition of HP:0032226 (Abnormal sebaceous gland morphology)\n", + " \n", + " \n", + " Any structural anomaly of the sebaceous glands.\n", + " definition of HP:0032226 (Abnormal sebaceous gland morphology)\n", + " \n", + " \n", + " Cone/cone-rod dystrophy\n", + " definition of HP:0000548 (Cone/cone-rod dystrophy)\n", + " \n", + " \n", + " #Cone rod dystrophy #Cone-rod retinal dystrophy\n", + " definition of HP:0000548 (Cone/cone-rod dystrophy)\n", + " \n", + " \n", + " Epiphyseal stippling of the first metacarpal\n", + " definition of HP:0010024 (Epiphyseal stippling of the first metacarpal)\n", + " \n", + " \n", + " The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the first metacarpal bone.\n", + " definition of HP:0010024 (Epiphyseal stippling of the first metacarpal)\n", + " \n", + " \n", + " #Speckled calcifications in the end part of the first long bone of hand #Stippling of the epiphysis of the 1st metacarpal\n", + " definition of HP:0010024 (Epiphyseal stippling of the first metacarpal)\n", + " \n", + " \n", + " Tessier number 1 facial cleft\n", + " definition of HP:0031572 (Tessier number 1 facial cleft)\n", + " \n", + " \n", + " As seen in a typical cleft lip, a cleft of the lip is found in the region of the cupid's bow. The nostril is cleft through the alar dome and extends above onto the nasal dorsum. It passes medial to a normal, but dys- topic, medial canthus. There is an alveolar cleft between the central and lateral incisors that extends above through the pyriform margin lateral to the anterior nasal spine; the nasal septum is not involved. The bony cleft extends through the nasal bone or between the junction of the nasal bone and frontal process of the maxilla. Above the cleft lip, the clefting of the alar dome is associated with deviation to the opposite side of the shortened and broadened columella and nasal tip. Extension of the soft tissue cleft onto the nasal dorsum can be manifest as a series of vertical soft tissue furrows and ridges. Vertical inner canthal dysto- pia and severe telecanthus mark the superior aspect of the Number 1 facial cleft. A cranial soft tissue extension characterized by a tongue-like projection of the frontal hairline delineates the number 13 cleft. Skeletal clefting of the maxilla may extend posteriorly to form a complete cleft of the hard and soft palate. The maxilla is hypoplastic in all three dimensions. There is a keel-shaped alveolus and anterior open bite. Normal septation is preserved between the nasal cavity and the hypoplastic maxillary antrum on the affected side. Distortion of the nasal skeleton produces gross flattening of the nasal dorsum. There is asymmetry of the pterygoid plates, of the greater and lesser wings of the sphenoid, and of the floor of the anterior cranial fossa. The distortion of the cranial base may result in a mild plagiocephaly.\n", + " definition of HP:0031572 (Tessier number 1 facial cleft)\n", + " \n", + " \n", + " Abnormal bronchoalveolar lavage fluid morphology\n", + " definition of HP:0032973 (Abnormal bronchoalveolar lavage fluid morphology)\n", + " \n", + " \n", + " Abnormal type or counts of nucleated immune cells and acellular components in bronchoalveolar lavage (BAL) fluid. BAL us performed with a fiberoptic bronchoscope in the wedged position within a selected bronchopulmonary segment. BAL is commonly used to inform the differential diagnosis of interstitial lung disease or to monitor therapeutic interventions.\n", + " definition of HP:0032973 (Abnormal bronchoalveolar lavage fluid morphology)\n", + " \n", + " \n", + " Reticulate pigmentation of oral mucosa\n", + " definition of HP:0012788 (Reticulate pigmentation of oral mucosa)\n", + " \n", + " \n", + " A net-like pattern of increased pigmentation of the oral cavity.\n", + " definition of HP:0012788 (Reticulate pigmentation of oral mucosa)\n", + " \n", + " \n", + " #Mottled pigmentation of oral mucosa #Reticulate pigmentation of oral mucous membrane\n", + " definition of HP:0012788 (Reticulate pigmentation of oral mucosa)\n", + " \n", + " \n", + " Abnormal circulating glutamine concentration\n", + " definition of HP:0010903 (Abnormal circulating glutamine concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of glutamine in the blood circulation.\n", + " definition of HP:0010903 (Abnormal circulating glutamine concentration)\n", + " \n", + " \n", + " Prolonged central motor conduction time\n", + " definition of HP:0034399 (Prolonged central motor conduction time)\n", + " \n", + " \n", + " Increased duration of the central motor conduction time (CMCT). The CMCT estimates the conduction time of corticospinal fibers between motor cortex and spinal (or bulbar) motoneurons. It includes the times for excitation of cortical cells, conduction via the corticobulbar-corticospinal tract and excitation of the motoneuron sufficient to reach its firing threshold. CMCT is calculated by subtracting the peripheral conduction time from the MEP latency recorded after cortical stimulation.\n", + " definition of HP:0034399 (Prolonged central motor conduction time)\n", + " \n", + " \n", + " Increased circulating isovaleric acid concentration\n", + " definition of HP:0033148 (Increased circulating isovaleric acid concentration)\n", + " \n", + " \n", + " Increased concentration of isovaleric acid, a C5, branched-chain saturated fatty acid, in the blood concentration.\n", + " definition of HP:0033148 (Increased circulating isovaleric acid concentration)\n", + " \n", + " \n", + " #Increased circulating isovalerate #Isovalericacidemia\n", + " definition of HP:0033148 (Increased circulating isovaleric acid concentration)\n", + " \n", + " \n", + " Anti-glycyl tRNA-synthetase antibody positivity\n", + " definition of HP:0034146 (Anti-glycyl tRNA-synthetase antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glycyl tRNA-synthetase.\n", + " definition of HP:0034146 (Anti-glycyl tRNA-synthetase antibody positivity)\n", + " \n", + " \n", + " #Anti-EJ antibody positivity\n", + " definition of HP:0034146 (Anti-glycyl tRNA-synthetase antibody positivity)\n", + " \n", + " \n", + " Fundus atrophy\n", + " definition of HP:0001099 (Fundus atrophy)\n", + " \n", + " \n", + " Cellular hypersensitivity to mitomycin C\n", + " definition of HP:0032188 (Cellular hypersensitivity to mitomycin C)\n", + " \n", + " \n", + " An increased cellular sensitivity to the DNA cross-linking agent, mitomycin C (MMC). In the presence of increased sensitivity, MMC causes increased cell death, chromosome breakage, and accumulation in the G2 phase of the cell cycle.\n", + " definition of HP:0032188 (Cellular hypersensitivity to mitomycin C)\n", + " \n", + " \n", + " Cone-shaped epiphyses of the proximal phalanges of the hand\n", + " definition of HP:0010270 (Cone-shaped epiphyses of the proximal phalanges of the hand)\n", + " \n", + " \n", + " #Cone-shaped end part of the innermost hand bones\n", + " definition of HP:0010270 (Cone-shaped epiphyses of the proximal phalanges of the hand)\n", + " \n", + " \n", + " Multiple biliary hamartomas\n", + " definition of HP:0025519 (Multiple biliary hamartomas)\n", + " \n", + " \n", + " Multiple biliary hamartomas are a rare clinicopathologic entity, consisting of small (less than 1.5cm), usually multiple and nodular cystic lesions in the liver.\n", + " definition of HP:0025519 (Multiple biliary hamartomas)\n", + " \n", + " \n", + " #Multiple bile duct hamartomas #Von Meyenburg complexes\n", + " definition of HP:0025519 (Multiple biliary hamartomas)\n", + " \n", + " \n", + " Aortic isthmus hypoplasia\n", + " definition of HP:0034227 (Aortic isthmus hypoplasia)\n", + " \n", + " \n", + " A type of aortic arch hypoplasia whereby the isthmus (arch between the left subclavian and insertion of the patent ductus arteriosus/ligamentum arteriosum) has a diameter of less than 40% of the diameter of the ascending aorta.\n", + " definition of HP:0034227 (Aortic isthmus hypoplasia)\n", + " \n", + " \n", + " Febrile seizure outside the age of 3 months to 6 years\n", + " definition of HP:0032895 (Febrile seizure outside the age of 3 months to 6 years)\n", + " \n", + " \n", + " Any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38.0 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in people beyond the typical arrange of 3 months-6 years with no prior history of afebrile seizure.\n", + " definition of HP:0032895 (Febrile seizure outside the age of 3 months to 6 years)\n", + " \n", + " \n", + " Partial complement factor H deficiency\n", + " definition of HP:0008290 (Partial complement factor H deficiency)\n", + " \n", + " \n", + " A partial reduction in level of the complement component Factor H in circulation.\n", + " definition of HP:0008290 (Partial complement factor H deficiency)\n", + " \n", + " \n", + " Retinal pigment epithelial loss on macular OCT\n", + " definition of HP:0030611 (Retinal pigment epithelial loss on macular OCT)\n", + " \n", + " \n", + " Abnormal seventh cranial physiology\n", + " definition of HP:0010827 (Abnormal seventh cranial physiology)\n", + " \n", + " \n", + " Abnormality of the seventh cranial nerve sometimes also referred to as the facial nerve.\n", + " definition of HP:0010827 (Abnormal seventh cranial physiology)\n", + " \n", + " \n", + " #Abnormality of the facial nerve\n", + " definition of HP:0010827 (Abnormal seventh cranial physiology)\n", + " \n", + " \n", + " Retinal vascular tortuosity\n", + " definition of HP:0012841 (Retinal vascular tortuosity)\n", + " \n", + " \n", + " The presence of an increased number of twists and turns of the retinal blood vessels.\n", + " definition of HP:0012841 (Retinal vascular tortuosity)\n", + " \n", + " \n", + " #Tortuous retinal vessels\n", + " definition of HP:0012841 (Retinal vascular tortuosity)\n", + " \n", + " \n", + " Focal impaired awareness cognitive seizure with memory impairment\n", + " definition of HP:0032801 (Focal impaired awareness cognitive seizure with memory impairment)\n", + " \n", + " \n", + " A focal cognitive seizure with memory impairment characterized by impairment of awareness at some point during the seizure.\n", + " definition of HP:0032801 (Focal impaired awareness cognitive seizure with memory impairment)\n", + " \n", + " \n", + " Conjunctival amyloidosis\n", + " definition of HP:0010637 (Conjunctival amyloidosis)\n", + " \n", + " \n", + " A form of amyloidosis that affects the conjunctiva.\n", + " definition of HP:0010637 (Conjunctival amyloidosis)\n", + " \n", + " \n", + " Beta-alaninuria\n", + " definition of HP:0020079 (Beta-alaninuria)\n", + " \n", + " \n", + " The amount of beta-alanine in the urine, when normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:0020079 (Beta-alaninuria)\n", + " \n", + " \n", + " #Beta-alanine high in urine #Elevated urinary beta-alanine level #Hyper-beta-alaninuria\n", + " definition of HP:0020079 (Beta-alaninuria)\n", + " \n", + " \n", + " Lumbar kyphosis\n", + " definition of HP:0008454 (Lumbar kyphosis)\n", + " \n", + " \n", + " Over curvature of the lumbar region.\n", + " definition of HP:0008454 (Lumbar kyphosis)\n", + " \n", + " \n", + " #Lumbar gibbus deformity #Rounded lower back\n", + " definition of HP:0008454 (Lumbar kyphosis)\n", + " \n", + " \n", + " Laterality\n", + " definition of HP:0012831 (Laterality)\n", + " \n", + " \n", + " The localization with respect to the side of the body of the specified phenotypic abnormality.\n", + " definition of HP:0012831 (Laterality)\n", + " \n", + " \n", + " Absent lunula\n", + " definition of HP:0030805 (Absent lunula)\n", + " \n", + " \n", + " Lack of the lunula at the base of a nail. The lunula is the crescent-shaped whitish area of the bed of a fingernail or toenail.\n", + " definition of HP:0030805 (Absent lunula)\n", + " \n", + " \n", + " #Absent lunulae #Lunula absent #Lunulae absent\n", + " definition of HP:0030805 (Absent lunula)\n", + " \n", + " \n", + " Cheyne-Stokes respiration\n", + " definition of HP:0012196 (Cheyne-Stokes respiration)\n", + " \n", + " \n", + " An abnormal pattern of respiration characterized by cycles of respiration that are increasingly deeper then shallower with possible periods of apnea. Affected patients may display a 10 to 20 second episode of hypoventilation or apnea, followed by respiration of increased depth and frequency over the course of about one minute. The cycle repeats every 45 seconds to 3 minutes.\n", + " definition of HP:0012196 (Cheyne-Stokes respiration)\n", + " \n", + " \n", + " #Cheyne-Stokes breathing #Periodic respiration\n", + " definition of HP:0012196 (Cheyne-Stokes respiration)\n", + " \n", + " \n", + " Dot-and-blot retinal hemorrhage\n", + " definition of HP:0025242 (Dot-and-blot retinal hemorrhage)\n", + " \n", + " \n", + " Accumulation of blood located in the retina's inner nuclear and outer plexiform layers, and having a dot-like or blot-like shape. THe shape results from intraretinal compression, restricting the hemorrhages within a specific location.\n", + " definition of HP:0025242 (Dot-and-blot retinal hemorrhage)\n", + " \n", + " \n", + " #Dot-and-blot retinal haemorrhage #Round retinal heme\n", + " definition of HP:0025242 (Dot-and-blot retinal hemorrhage)\n", + " \n", + " \n", + " Reflex asystolic syncope\n", + " definition of HP:0500173 (Reflex asystolic syncope)\n", + " \n", + " \n", + " A loss of consciousness followed by stiffening and brief clonic movements affecting some or all limbs, often misinterpreted as an epileptic seizure.\n", + " definition of HP:0500173 (Reflex asystolic syncope)\n", + " \n", + " \n", + " #Reflex anoxic seizure #Reflex anoxic seizures\n", + " definition of HP:0500173 (Reflex asystolic syncope)\n", + " \n", + " \n", + " Paranasal sinus neoplasm\n", + " definition of HP:0030072 (Paranasal sinus neoplasm)\n", + " \n", + " \n", + " A tumor that originates in the paranasal sinus.\n", + " definition of HP:0030072 (Paranasal sinus neoplasm)\n", + " \n", + " \n", + " #Neoplasm of the paranasal sinuses\n", + " definition of HP:0030072 (Paranasal sinus neoplasm)\n", + " \n", + " \n", + " Retinopathy of prematurity zone I\n", + " definition of HP:0500059 (Retinopathy of prematurity zone I)\n", + " \n", + " \n", + " Retinopathy which extends from the center of the optic disc to twice the distance from the center of the optic disc to the center of the macula.\n", + " definition of HP:0500059 (Retinopathy of prematurity zone I)\n", + " \n", + " \n", + " #ROP zone 1\n", + " definition of HP:0500059 (Retinopathy of prematurity zone I)\n", + " \n", + " \n", + " Abnormal carotid artery morphology\n", + " definition of HP:0005344 (Abnormal carotid artery morphology)\n", + " \n", + " \n", + " Any structural abnormality of the carotid arteries, including the common carotid artery and its' arterial branches.\n", + " definition of HP:0005344 (Abnormal carotid artery morphology)\n", + " \n", + " \n", + " #Abnormality of the carotid arteries\n", + " definition of HP:0005344 (Abnormal carotid artery morphology)\n", + " \n", + " \n", + " Oculomotor synkinesis\n", + " definition of HP:0033851 (Oculomotor synkinesis)\n", + " \n", + " \n", + " Elevation of the upper eyelid on attempted downward gaze or adduction, adduction of the eye on attempted upward or downward gaze, and constriction of the pupil on attempted adduction.\n", + " definition of HP:0033851 (Oculomotor synkinesis)\n", + " \n", + " \n", + " Abnormality of thumb phalanx\n", + " definition of HP:0009602 (Abnormality of thumb phalanx)\n", + " \n", + " \n", + " A structural anomaly of one or more phalanges of the thumb.\n", + " definition of HP:0009602 (Abnormality of thumb phalanx)\n", + " \n", + " \n", + " #Abnormality of the thumb bones #Abnormality of thumb phalanges\n", + " definition of HP:0009602 (Abnormality of thumb phalanx)\n", + " \n", + " \n", + " Abnormality of lower eyelashes\n", + " definition of HP:0040052 (Abnormality of lower eyelashes)\n", + " \n", + " \n", + " #Abnormality of lower eyelashes\n", + " definition of HP:0040052 (Abnormality of lower eyelashes)\n", + " \n", + " \n", + " Chronic noninfectious lymphadenopathy\n", + " definition of HP:0002730 (Chronic noninfectious lymphadenopathy)\n", + " \n", + " \n", + " A chronic form of lymphadenopathy that is not related to infection.\n", + " definition of HP:0002730 (Chronic noninfectious lymphadenopathy)\n", + " \n", + " \n", + " Synostosis involving bones of the upper limbs\n", + " definition of HP:0100238 (Synostosis involving bones of the upper limbs)\n", + " \n", + " \n", + " An abnormal union between bones or parts of bones of the upper limbs.\n", + " definition of HP:0100238 (Synostosis involving bones of the upper limbs)\n", + " \n", + " \n", + " #Fusion involving bones of the upper limbs\n", + " definition of HP:0100238 (Synostosis involving bones of the upper limbs)\n", + " \n", + " \n", + " Rhomboid or triangular shaped 5th finger distal phalanx\n", + " definition of HP:0009379 (Rhomboid or triangular shaped 5th finger distal phalanx)\n", + " \n", + " \n", + " Rhomboid or triangular shaped 5th (little) finger distal phalanx.\n", + " definition of HP:0009379 (Rhomboid or triangular shaped 5th finger distal phalanx)\n", + " \n", + " \n", + " #Rhomboid or triangular shaped little finger bone #Rhomboid or triangular shaped pinkie finger bone #Rhomboid or triangular shaped pinky finger bone\n", + " definition of HP:0009379 (Rhomboid or triangular shaped 5th finger distal phalanx)\n", + " \n", + " \n", + " Ultra-low vision with no light perception\n", + " definition of HP:0032287 (Ultra-low vision with no light perception)\n", + " \n", + " \n", + " Ultra-low vision with complete lack of light and form perception.\n", + " definition of HP:0032287 (Ultra-low vision with no light perception)\n", + " \n", + " \n", + " Decreased circulating antidiuretic hormone concentration\n", + " definition of HP:0034897 (Decreased circulating antidiuretic hormone concentration)\n", + " \n", + " \n", + " Concentration of antidiuretic hormone, also known as vasopressin, is below the lower limit of normal in the blood circulation.\n", + " definition of HP:0034897 (Decreased circulating antidiuretic hormone concentration)\n", + " \n", + " \n", + " Abnormal pancreatic acinus morphology\n", + " definition of HP:0034584 (Abnormal pancreatic acinus morphology)\n", + " \n", + " \n", + " Structural anomal of pancreatic acinus.\n", + " definition of HP:0034584 (Abnormal pancreatic acinus morphology)\n", + " \n", + " \n", + " Hepatic cysts\n", + " definition of HP:0001407 (Hepatic cysts)\n", + " \n", + " \n", + " #Liver cysts\n", + " definition of HP:0001407 (Hepatic cysts)\n", + " \n", + " \n", + " Crowded lymph-node follicles\n", + " definition of HP:0020245 (Crowded lymph-node follicles)\n", + " \n", + " \n", + " Reduction in the average distance between adjacent lymph node follicles.\n", + " definition of HP:0020245 (Crowded lymph-node follicles)\n", + " \n", + " \n", + " #Crowded follicles\n", + " definition of HP:0020245 (Crowded lymph-node follicles)\n", + " \n", + " \n", + " Hyponatriuria\n", + " definition of HP:0012604 (Hyponatriuria)\n", + " \n", + " \n", + " An abnormally decreased sodium concentration in the urine.\n", + " definition of HP:0012604 (Hyponatriuria)\n", + " \n", + " \n", + " #Low urine sodium levels\n", + " definition of HP:0012604 (Hyponatriuria)\n", + " \n", + " \n", + " Abnormal dense granules\n", + " definition of HP:0012484 (Abnormal dense granules)\n", + " \n", + " \n", + " Defective structure, size or content of dense granules, platelet organelles that contain granules proaggregatory factors such as adenosine diphosphate (ADP), adenosine triphosphate (ATP), ionized calcium, histamine and serotonin.\n", + " definition of HP:0012484 (Abnormal dense granules)\n", + " \n", + " \n", + " Elevated circulating linoleylcarnitine concentration\n", + " definition of HP:0033484 (Elevated circulating linoleylcarnitine concentration)\n", + " \n", + " \n", + " Increased concentration of linoleylcarnitine in the blood circulation.\n", + " definition of HP:0033484 (Elevated circulating linoleylcarnitine concentration)\n", + " \n", + " \n", + " #Elevated circulating C18:2 acylcarnitine concentration #Elevated plasma linoleylcarnitine, C18:2\n", + " definition of HP:0033484 (Elevated circulating linoleylcarnitine concentration)\n", + " \n", + " \n", + " Elevated CSF thymine concentration\n", + " definition of HP:6000207 (Elevated CSF thymine concentration)\n", + " \n", + " \n", + " The concentration of thymine in the cerebrospinal fluid (CSF) is above the upper limit of normal.\n", + " definition of HP:6000207 (Elevated CSF thymine concentration)\n", + " \n", + " \n", + " #Thymine high in CSF\n", + " definition of HP:6000207 (Elevated CSF thymine concentration)\n", + " \n", + " \n", + " Myocardial infarction\n", + " definition of HP:0001658 (Myocardial infarction)\n", + " \n", + " \n", + " Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin.\n", + " definition of HP:0001658 (Myocardial infarction)\n", + " \n", + " \n", + " #Heart attack #MI\n", + " definition of HP:0001658 (Myocardial infarction)\n", + " \n", + " \n", + " Prolonged bleeding following circumcision\n", + " definition of HP:0030137 (Prolonged bleeding following circumcision)\n", + " \n", + " \n", + " Bleeding that persists for a longer than usual time following circumcision.\n", + " definition of HP:0030137 (Prolonged bleeding following circumcision)\n", + " \n", + " \n", + " #Prolonged bleeding following circumcision\n", + " definition of HP:0030137 (Prolonged bleeding following circumcision)\n", + " \n", + " \n", + " Lower extremity peripheral arterial calcification\n", + " definition of HP:0031302 (Lower extremity peripheral arterial calcification)\n", + " \n", + " \n", + " An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the leg.\n", + " definition of HP:0031302 (Lower extremity peripheral arterial calcification)\n", + " \n", + " \n", + " #Lower extremity peripheral artery calcification\n", + " definition of HP:0031302 (Lower extremity peripheral arterial calcification)\n", + " \n", + " \n", + " Axonal regeneration\n", + " definition of HP:0003450 (Axonal regeneration)\n", + " \n", + " \n", + " The presence of axonal regeneration following a previous axonal lesion.\n", + " definition of HP:0003450 (Axonal regeneration)\n", + " \n", + " \n", + " #Regenerative activity on nerve biopsy\n", + " definition of HP:0003450 (Axonal regeneration)\n", + " \n", + " \n", + " Shoe-shaped sella turcica\n", + " definition of HP:0005723 (Shoe-shaped sella turcica)\n", + " \n", + " \n", + " Dentinogenesis imperfecta limited to primary teeth\n", + " definition of HP:0011060 (Dentinogenesis imperfecta limited to primary teeth)\n", + " \n", + " \n", + " Developmental dysplasia of dentin affecting only the primary dentition.\n", + " definition of HP:0011060 (Dentinogenesis imperfecta limited to primary teeth)\n", + " \n", + " \n", + " #Dentinogenesis imperfecta of baby teeth\n", + " definition of HP:0011060 (Dentinogenesis imperfecta limited to primary teeth)\n", + " \n", + " \n", + " Coarctation of abdominal aorta\n", + " definition of HP:0004974 (Coarctation of abdominal aorta)\n", + " \n", + " \n", + " Coarctation of the aorta is a narrowing or constriction of a segment of the abdominal aorta.\n", + " definition of HP:0004974 (Coarctation of abdominal aorta)\n", + " \n", + " \n", + " Delayed ability to crawl\n", + " definition of HP:0033128 (Delayed ability to crawl)\n", + " \n", + " \n", + " A failure to achieve the ability to crawl at an appropriate developmental stage. Normal infant motor development is marked by a series of postural milestones including learning to crawl on hands and knees between the ages of 6 and 10 months.\n", + " definition of HP:0033128 (Delayed ability to crawl)\n", + " \n", + " \n", + " Reduced brain creatine level by MRS\n", + " definition of HP:0025051 (Reduced brain creatine level by MRS)\n", + " \n", + " \n", + " A decrease in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS).\n", + " definition of HP:0025051 (Reduced brain creatine level by MRS)\n", + " \n", + " \n", + " #Low brain creatine phosphate #Reduced brain creatine level by magnetic resonance spectroscopy\n", + " definition of HP:0025051 (Reduced brain creatine level by MRS)\n", + " \n", + " \n", + " Supraventricular tachycardia with a manifest accessory pathway on the septum\n", + " definition of HP:0011698 (Supraventricular tachycardia with a manifest accessory pathway on the septum)\n", + " \n", + " \n", + " Decreased body fat percentage\n", + " definition of HP:0041079 (Decreased body fat percentage)\n", + " \n", + " \n", + " The percentage of fat as a part of total body weight below the norm, usually defined as less than 14% for females and less than 8% for males.\n", + " definition of HP:0041079 (Decreased body fat percentage)\n", + " \n", + " \n", + " #Decreased adipose tissue percentage\n", + " definition of HP:0041079 (Decreased body fat percentage)\n", + " \n", + " \n", + " Low intraocular pressure\n", + " definition of HP:0032547 (Low intraocular pressure)\n", + " \n", + " \n", + " An abnormal decrease of the pressure within the eye.\n", + " definition of HP:0032547 (Low intraocular pressure)\n", + " \n", + " \n", + " #Ocular hypotony\n", + " definition of HP:0032547 (Low intraocular pressure)\n", + " \n", + " \n", + " Distance esotropia\n", + " definition of HP:0031762 (Distance esotropia)\n", + " \n", + " \n", + " An intermittent esotropia where binocular single vision is present on near fixation and an esotropia on distance fixation. Often associated with myopia and aging.\n", + " definition of HP:0031762 (Distance esotropia)\n", + " \n", + " \n", + " #Divergence insufficiency\n", + " definition of HP:0031762 (Distance esotropia)\n", + " \n", + " \n", + " Limitation of joint mobility\n", + " definition of HP:0001376 (Limitation of joint mobility)\n", + " \n", + " \n", + " A reduction in the freedom of movement of one or more joints.\n", + " definition of HP:0001376 (Limitation of joint mobility)\n", + " \n", + " \n", + " #Decreased joint mobility #Decreased mobility of joints #Limitation of joint mobility #Limited joint mobility #Limited joint motion\n", + " definition of HP:0001376 (Limitation of joint mobility)\n", + " \n", + " \n", + " Abnormal nasopharyngeal adenoid morphology\n", + " definition of HP:3000033 (Abnormal nasopharyngeal adenoid morphology)\n", + " \n", + " \n", + " Any abnormality of nasopharyngeal adenoids.\n", + " definition of HP:3000033 (Abnormal nasopharyngeal adenoid morphology)\n", + " \n", + " \n", + " #Abnormality of adenoids #Abnormality of nasopharyngeal adenoids #Abnormality of nasopharyngeal tonsil #Abnormality of pharyngeal tonsil\n", + " definition of HP:3000033 (Abnormal nasopharyngeal adenoid morphology)\n", + " \n", + " \n", + " Absent epiphyses of the 3rd toe\n", + " definition of HP:0100055 (Absent epiphyses of the 3rd toe)\n", + " \n", + " \n", + " #Absent end part of the 3rd toe\n", + " definition of HP:0100055 (Absent epiphyses of the 3rd toe)\n", + " \n", + " \n", + " Normal density transverse bands in metaphyses of the upper limbs\n", + " definition of HP:0003852 (Normal density transverse bands in metaphyses of the upper limbs)\n", + " \n", + " \n", + " Elevated proportion of CD4+ effector memory T cells\n", + " definition of HP:0025625 (Elevated proportion of CD4+ effector memory T cells)\n", + " \n", + " \n", + " An abnormally increased proportion of effector memory CD4+ T cells. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells may have a CD3/CD4/CD62L-/CD45RA phenotype.\n", + " definition of HP:0025625 (Elevated proportion of CD4+ effector memory T cells)\n", + " \n", + " \n", + " #Increased proportion of CD4+ effector memory T cells #Increased proportion of CD4-positive effector memory T cells #Increased proportion of effector CD4-positive, alpha-beta T cells\n", + " definition of HP:0025625 (Elevated proportion of CD4+ effector memory T cells)\n", + " \n", + " \n", + " Near esotropia\n", + " definition of HP:0031722 (Near esotropia)\n", + " \n", + " \n", + " An intermittent esotropia where there is binocular single vision on distance fixation and esotropia at near even when the accommodation is relieved.\n", + " definition of HP:0031722 (Near esotropia)\n", + " \n", + " \n", + " #Non-accomodative convergence excess esotropia\n", + " definition of HP:0031722 (Near esotropia)\n", + " \n", + " \n", + " Tubulointerstitial fungal infiltration\n", + " definition of HP:0020205 (Tubulointerstitial fungal infiltration)\n", + " \n", + " \n", + " Tubulointerstitial infiltration of yeast or hyphal-microrganisms identified on routine and/or special (PAS, silver) stains.\n", + " definition of HP:0020205 (Tubulointerstitial fungal infiltration)\n", + " \n", + " \n", + " #Renal tubulointerstitial fungal organisms\n", + " definition of HP:0020205 (Tubulointerstitial fungal infiltration)\n", + " \n", + " \n", + " Fractured epiphysis of fifth metacarpal bone\n", + " definition of HP:0041121 (Fractured epiphysis of fifth metacarpal bone)\n", + " \n", + " \n", + " A partial or complete breakage of the epiphysis of fifth metacarpal bone.\n", + " definition of HP:0041121 (Fractured epiphysis of fifth metacarpal bone)\n", + " \n", + " \n", + " #bone epiphysis of fifth metacarpal bone\n", + " definition of HP:0041121 (Fractured epiphysis of fifth metacarpal bone)\n", + " \n", + " \n", + " Cervical C6/C7 vertebrae fusion\n", + " definition of HP:6000807 (Cervical C6/C7 vertebrae fusion)\n", + " \n", + " \n", + " Fusion of cervical vertebrae at C6 and C7, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development, leading to a short neck with a low hairline at the back of the head, and restricted mobility of the upper spine.\n", + " definition of HP:6000807 (Cervical C6/C7 vertebrae fusion)\n", + " \n", + " \n", + " Decreased glucose-6-phosphate dehydrogenase level in blood\n", + " definition of HP:0410179 (Decreased glucose-6-phosphate dehydrogenase level in blood)\n", + " \n", + " \n", + " A decrease in the level of glucose-6-phosphate dehydrogenase in the blood.\n", + " definition of HP:0410179 (Decreased glucose-6-phosphate dehydrogenase level in blood)\n", + " \n", + " \n", + " #Decreased G6PD level in blood\n", + " definition of HP:0410179 (Decreased glucose-6-phosphate dehydrogenase level in blood)\n", + " \n", + " \n", + " Hypochloremic metabolic alkalosis\n", + " definition of HP:0005977 (Hypochloremic metabolic alkalosis)\n", + " \n", + " \n", + " Decreased sweating due to autonomic dysfunction\n", + " definition of HP:0007480 (Decreased sweating due to autonomic dysfunction)\n", + " \n", + " \n", + " Terminal hepatic lobular vascular occlusion\n", + " definition of HP:6000716 (Terminal hepatic lobular vascular occlusion)\n", + " \n", + " \n", + " A type of Hepatic venous outflow obstruction characterized by fibrous concentric narrowing of zone 3 terminal hepatic venules, centrilobular hepatocyte necrosis, and sinusoidal congestion, accomapnied by necrosis of pericentral hepatocytes, and narrowing and eventual fibrosis of central veins.\n", + " definition of HP:6000716 (Terminal hepatic lobular vascular occlusion)\n", + " \n", + " \n", + " #Hepatic sinusoidal obstruction syndrome #Hepatic veno-occlusive disease\n", + " definition of HP:6000716 (Terminal hepatic lobular vascular occlusion)\n", + " \n", + " \n", + " Cellular metachromasia\n", + " definition of HP:0003653 (Cellular metachromasia)\n", + " \n", + " \n", + " Metachromasia (also known as metachromacy) is a characteristic color change which certain aniline dyes exhibit when bound to particular substances or when concentrated in solution. For example, the basic dye toluidine blue becomes distinctly pink when bound to cartilage matrix. In the sense used here, the metachromasia refers to a change in color not observed with normal tissues, anomalous staining with the cationic dyes toluidine blue O and Alcian blue resulting from excessive amounts of the polyanionic glycosaminoglycans.\n", + " definition of HP:0003653 (Cellular metachromasia)\n", + " \n", + " \n", + " Intestinal bleeding\n", + " definition of HP:0002584 (Intestinal bleeding)\n", + " \n", + " \n", + " Bleeding from the intestines.\n", + " definition of HP:0002584 (Intestinal bleeding)\n", + " \n", + " \n", + " #Intestinal bleeding #Intestinal haemorrhage #Intestinal hemorrhage\n", + " definition of HP:0002584 (Intestinal bleeding)\n", + " \n", + " \n", + " Loud snoring\n", + " definition of HP:0025372 (Loud snoring)\n", + " \n", + " \n", + " Snoring at a particularly loud or abnormally high volume.\n", + " definition of HP:0025372 (Loud snoring)\n", + " \n", + " \n", + " #Has loud snoring #Have loud snoring #Heavy snoring #Snores loudly\n", + " definition of HP:0025372 (Loud snoring)\n", + " \n", + " \n", + " Macular hypopigmentation\n", + " definition of HP:0007988 (Macular hypopigmentation)\n", + " \n", + " \n", + " Decreased amount of pigmentation in the macula lutea.\n", + " definition of HP:0007988 (Macular hypopigmentation)\n", + " \n", + " \n", + " Multiple small medullary renal cysts\n", + " definition of HP:0008659 (Multiple small medullary renal cysts)\n", + " \n", + " \n", + " The presence of many cysts in the medulla of the kidney.\n", + " definition of HP:0008659 (Multiple small medullary renal cysts)\n", + " \n", + " \n", + " Elevated urine 2-methylacetoacetic acid level\n", + " definition of HP:0034660 (Elevated urine 2-methylacetoacetic acid level)\n", + " \n", + " \n", + " Amount of 2-methylacetoacetic acid in the urine above upper limit of normal.\n", + " definition of HP:0034660 (Elevated urine 2-methylacetoacetic acid level)\n", + " \n", + " \n", + " #2-methylacetoacetic acid present in urine\n", + " definition of HP:0034660 (Elevated urine 2-methylacetoacetic acid level)\n", + " \n", + " \n", + " Hypertonia\n", + " definition of HP:0001276 (Hypertonia)\n", + " \n", + " \n", + " A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.\n", + " definition of HP:0001276 (Hypertonia)\n", + " \n", + " \n", + " #Hypertonicity #Increased muscle tone\n", + " definition of HP:0001276 (Hypertonia)\n", + " \n", + " \n", + " Leukocoria\n", + " definition of HP:0000555 (Leukocoria)\n", + " \n", + " \n", + " An abnormal white reflection from the pupil rather than the usual black reflection.\n", + " definition of HP:0000555 (Leukocoria)\n", + " \n", + " \n", + " #Leukokoria #White pupillary reflex\n", + " definition of HP:0000555 (Leukocoria)\n", + " \n", + " \n", + " Abdominal situs ambiguus\n", + " definition of HP:0031565 (Abdominal situs ambiguus)\n", + " \n", + " \n", + " An abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements.\n", + " definition of HP:0031565 (Abdominal situs ambiguus)\n", + " \n", + " \n", + " Superior-inferior ventricles without criss-cross atrioventricular valves\n", + " definition of HP:0011543 (Superior-inferior ventricles without criss-cross atrioventricular valves)\n", + " \n", + " \n", + " Frequent\n", + " definition of HP:0040282 (Frequent)\n", + " \n", + " \n", + " Present in 30% to 79% of the cases.\n", + " definition of HP:0040282 (Frequent)\n", + " \n", + " \n", + " #Frequent (79-30%)\n", + " definition of HP:0040282 (Frequent)\n", + " \n", + " \n", + " Palpebral edema\n", + " definition of HP:0100540 (Palpebral edema)\n", + " \n", + " \n", + " Edema in the region of the eyelids.\n", + " definition of HP:0100540 (Palpebral edema)\n", + " \n", + " \n", + " #Edema of the eyelids #Eyelid edema #Eyelid oedema #Fullness of eyelids #Oedema of the eyelids #Palpebral oedema #Puffy eyelids #Puffy lids #Swelling of eyelids\n", + " definition of HP:0100540 (Palpebral edema)\n", + " \n", + " \n", + " Clavicular pseudarthrosis\n", + " definition of HP:0034187 (Clavicular pseudarthrosis)\n", + " \n", + " \n", + " A developmental defect in a the clavicule leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or false joint).\n", + " definition of HP:0034187 (Clavicular pseudarthrosis)\n", + " \n", + " \n", + " Intracranial hemorrhage\n", + " definition of HP:0002170 (Intracranial hemorrhage)\n", + " \n", + " \n", + " Hemorrhage occurring within the skull.\n", + " definition of HP:0002170 (Intracranial hemorrhage)\n", + " \n", + " \n", + " #Bleeding within the skull #Intracranial haemorrhage\n", + " definition of HP:0002170 (Intracranial hemorrhage)\n", + " \n", + " \n", + " Long proximal phalanx of finger\n", + " definition of HP:0006127 (Long proximal phalanx of finger)\n", + " \n", + " \n", + " Increased length of the proximal phalanx of finger.\n", + " definition of HP:0006127 (Long proximal phalanx of finger)\n", + " \n", + " \n", + " #Long innermost finger bone\n", + " definition of HP:0006127 (Long proximal phalanx of finger)\n", + " \n", + " \n", + " Dairy allergy\n", + " definition of HP:0410327 (Dairy allergy)\n", + " \n", + " \n", + " Hypersensitivity in form of an adverse immune reaction against dairy.\n", + " definition of HP:0410327 (Dairy allergy)\n", + " \n", + " \n", + " #Allergy to dairy #Dairy allergy #IgE-mediated dairy allergy #Immunoglobulin E-mediated dairy allergy\n", + " definition of HP:0410327 (Dairy allergy)\n", + " \n", + " \n", + " Anal margin neoplasm\n", + " definition of HP:0030440 (Anal margin neoplasm)\n", + " \n", + " \n", + " A tumor of the anal margin.\n", + " definition of HP:0030440 (Anal margin neoplasm)\n", + " \n", + " \n", + " Complete duplication of the proximal phalanx of the hallux\n", + " definition of HP:0010094 (Complete duplication of the proximal phalanx of the hallux)\n", + " \n", + " \n", + " Complete duplication of the proximal phalanx of big toe.\n", + " definition of HP:0010094 (Complete duplication of the proximal phalanx of the hallux)\n", + " \n", + " \n", + " #Complete duplication of the innermost bone of big toe\n", + " definition of HP:0010094 (Complete duplication of the proximal phalanx of the hallux)\n", + " \n", + " \n", + " Urate tophus\n", + " definition of HP:0033073 (Urate tophus)\n", + " \n", + " \n", + " Intradermal urate crystal deposits appeared as small, superficial, pustule-like, whitish lesions. The lesions may be the focus of inflammatory episodes with increasing pain, swelling, and erythema of the intradermal tophi.\n", + " definition of HP:0033073 (Urate tophus)\n", + " \n", + " \n", + " #Urate tophi\n", + " definition of HP:0033073 (Urate tophus)\n", + " \n", + " \n", + " Schizophrenia\n", + " definition of HP:0100753 (Schizophrenia)\n", + " \n", + " \n", + " A mental disorder characterized by a disintegration of thought processes and emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking. It is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 1%. This term is not a helpful parent term to describe abnormal experiences.\n", + " definition of HP:0100753 (Schizophrenia)\n", + " \n", + " \n", + " Abnormal lymphocyte apoptosis\n", + " definition of HP:0030886 (Abnormal lymphocyte apoptosis)\n", + " \n", + " \n", + " A anomaly in the rate of programmed cell death (apoptosis) in lymphocytes.\n", + " definition of HP:0030886 (Abnormal lymphocyte apoptosis)\n", + " \n", + " \n", + " Abnormal glycosphingolipid metabolism\n", + " definition of HP:0004343 (Abnormal glycosphingolipid metabolism)\n", + " \n", + " \n", + " An abnormality of glycosphingolipid metabolism.\n", + " definition of HP:0004343 (Abnormal glycosphingolipid metabolism)\n", + " \n", + " \n", + " #Abnormality of glycosphingolipid metabolism\n", + " definition of HP:0004343 (Abnormal glycosphingolipid metabolism)\n", + " \n", + " \n", + " Arcuate vein medial/intimal coagulative necrosis\n", + " definition of HP:0033943 (Arcuate vein medial/intimal coagulative necrosis)\n", + " \n", + " \n", + " A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures.\n", + " definition of HP:0033943 (Arcuate vein medial/intimal coagulative necrosis)\n", + " \n", + " \n", + " #Coagulative necrosis within arcuate vein intima/media\n", + " definition of HP:0033943 (Arcuate vein medial/intimal coagulative necrosis)\n", + " \n", + " \n", + " BCGosis\n", + " definition of HP:0020087 (BCGosis)\n", + " \n", + " \n", + " Distant, or disseminated infection with Bacillus Calmette-Guerin (BCG) following vaccination associated with failure to contain thebacillus Calmette-Guerin (BCG) following vaccination leading to spread of BCG to many sites in the body. The tuberculosis vaccine BCG contains live attenuated Mycobacterium bovis.\n", + " definition of HP:0020087 (BCGosis)\n", + " \n", + " \n", + " #BCGiosis #Disseminated Bacillus Calmette-Guerin infection\n", + " definition of HP:0020087 (BCGosis)\n", + " \n", + " \n", + " Abnormality of the hamate bone\n", + " definition of HP:0004259 (Abnormality of the hamate bone)\n", + " \n", + " \n", + " Radiation into left arm\n", + " definition of HP:0430044 (Radiation into left arm)\n", + " \n", + " \n", + " Refers to pain or discomfort that is perceived to travel from the chest into the left arm.\n", + " definition of HP:0430044 (Radiation into left arm)\n", + " \n", + " \n", + " Right atrial thrombus\n", + " definition of HP:0033138 (Right atrial thrombus)\n", + " \n", + " \n", + " A thrombus (i.e., a blood clot formed in situ within the vascular system) located in the right atrium of the heart.\n", + " definition of HP:0033138 (Right atrial thrombus)\n", + " \n", + " \n", + " Congenital aphakia\n", + " definition of HP:0007707 (Congenital aphakia)\n", + " \n", + " \n", + " Absence of the crystalline lens of the eye as a result of a developmental defect.\n", + " definition of HP:0007707 (Congenital aphakia)\n", + " \n", + " \n", + " #Lens agenesis\n", + " definition of HP:0007707 (Congenital aphakia)\n", + " \n", + " \n", + " Urinary bladder sphincter dysfunction\n", + " definition of HP:0002839 (Urinary bladder sphincter dysfunction)\n", + " \n", + " \n", + " Abnormal function of a sphincter of the urinary bladder.\n", + " definition of HP:0002839 (Urinary bladder sphincter dysfunction)\n", + " \n", + " \n", + " #Sphincter disturbance #Sphincter disturbances\n", + " definition of HP:0002839 (Urinary bladder sphincter dysfunction)\n", + " \n", + " \n", + " Flexion contracture of 3rd toe\n", + " definition of HP:0010333 (Flexion contracture of 3rd toe)\n", + " \n", + " \n", + " One or more bent (flexed) joints of the third toe that cannot be straightened actively or passively.\n", + " definition of HP:0010333 (Flexion contracture of 3rd toe)\n", + " \n", + " \n", + " #Joint contractures of the 3rd toe\n", + " definition of HP:0010333 (Flexion contracture of 3rd toe)\n", + " \n", + " \n", + " Acute coronary syndrome\n", + " definition of HP:0033678 (Acute coronary syndrome)\n", + " \n", + " \n", + " The term acute coronary syndrome (ACS) refers to any group of clinical symptoms compatible with acute myocardial ischemia and includes unstable angina (UA), non-ST-segment elevation myocardial infarction (NSTEMI), and ST-segment elevation myocardial infarction (STEMI).\n", + " definition of HP:0033678 (Acute coronary syndrome)\n", + " \n", + " \n", + " Hyperglycinemia\n", + " definition of HP:0002154 (Hyperglycinemia)\n", + " \n", + " \n", + " An elevated concentration of glycine in the blood.\n", + " definition of HP:0002154 (Hyperglycinemia)\n", + " \n", + " \n", + " #Elevated blood glycine levels #Hyperglycinaemia\n", + " definition of HP:0002154 (Hyperglycinemia)\n", + " \n", + " \n", + " Dorsal flexion contracture of the ankle\n", + " definition of HP:6001097 (Dorsal flexion contracture of the ankle)\n", + " \n", + " \n", + " A type of contracture in which the dorsal flexion muscles of the ankle are contracted.\n", + " definition of HP:6001097 (Dorsal flexion contracture of the ankle)\n", + " \n", + " \n", + " #Dorsiflexion contracture of the ankle\n", + " definition of HP:6001097 (Dorsal flexion contracture of the ankle)\n", + " \n", + " \n", + " Early progressive calcific cardiac valvular disease\n", + " definition of HP:0006694 (Early progressive calcific cardiac valvular disease)\n", + " \n", + " \n", + " Hyposthenuria\n", + " definition of HP:0003158 (Hyposthenuria)\n", + " \n", + " \n", + " An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine.\n", + " definition of HP:0003158 (Hyposthenuria)\n", + " \n", + " \n", + " #Reduced urinary osmolality\n", + " definition of HP:0003158 (Hyposthenuria)\n", + " \n", + " \n", + " Palpable thrill on extremity\n", + " definition of HP:6001055 (Palpable thrill on extremity)\n", + " \n", + " \n", + " A vibration felt upon palpation of a blood vessel over an extremity.\n", + " definition of HP:6001055 (Palpable thrill on extremity)\n", + " \n", + " \n", + " Bloody bronchoalveolar lavage fluid\n", + " definition of HP:0033174 (Bloody bronchoalveolar lavage fluid)\n", + " \n", + " \n", + " Return of lavage fluid characteristically has a bloody appearance in pulmonary alveolar hemorrhage. This is due to admixture of blood, which typically increases with each consecutive lavage portion. Microscopically erythrocytes can be seen. After 24 to 48 h macrophages contain phagocytosed erythrocytes, indicating previous bleeding.\n", + " definition of HP:0033174 (Bloody bronchoalveolar lavage fluid)\n", + " \n", + " \n", + " Abnormality of the humeral epiphyseal plate\n", + " definition of HP:0003905 (Abnormality of the humeral epiphyseal plate)\n", + " \n", + " \n", + " Central diaphragmatic hernia\n", + " definition of HP:0025195 (Central diaphragmatic hernia)\n", + " \n", + " \n", + " A congenital diaphragm defect involving the central tendinous (e.g., amuscular) portion of the diaphragm, whereby the entire rim of diaphragmatic musculature is present.\n", + " definition of HP:0025195 (Central diaphragmatic hernia)\n", + " \n", + " \n", + " #Central hernia\n", + " definition of HP:0025195 (Central diaphragmatic hernia)\n", + " \n", + " \n", + " Abnormality of vitamin B metabolism\n", + " definition of HP:0004340 (Abnormality of vitamin B metabolism)\n", + " \n", + " \n", + " #Abnormality of B-vitamin metabolism\n", + " definition of HP:0004340 (Abnormality of vitamin B metabolism)\n", + " \n", + " \n", + " Abnormal lingual artery morphology\n", + " definition of HP:3000074 (Abnormal lingual artery morphology)\n", + " \n", + " \n", + " Any structural abnormality of a lingual artery.\n", + " definition of HP:3000074 (Abnormal lingual artery morphology)\n", + " \n", + " \n", + " #Abnormality of lingual artery\n", + " definition of HP:3000074 (Abnormal lingual artery morphology)\n", + " \n", + " \n", + " Chromosomal breakage induced by crosslinking agents\n", + " definition of HP:0003221 (Chromosomal breakage induced by crosslinking agents)\n", + " \n", + " \n", + " Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with DNA cross-linking agents such as diepoxybutane and mitomycin C.\n", + " definition of HP:0003221 (Chromosomal breakage induced by crosslinking agents)\n", + " \n", + " \n", + " #Chromosomal breakage induced by diepoxybutane #Chromosomal breakage induced by mitomycin C\n", + " definition of HP:0003221 (Chromosomal breakage induced by crosslinking agents)\n", + " \n", + " \n", + " Enlarged polycystic ovaries\n", + " definition of HP:0008675 (Enlarged polycystic ovaries)\n", + " \n", + " \n", + " #Enlarged ovaries with cysts\n", + " definition of HP:0008675 (Enlarged polycystic ovaries)\n", + " \n", + " \n", + " Premature eruption of permanent teeth\n", + " definition of HP:0006337 (Premature eruption of permanent teeth)\n", + " \n", + " \n", + " Premature tooth eruption of the permanent dentition.\n", + " definition of HP:0006337 (Premature eruption of permanent teeth)\n", + " \n", + " \n", + " #Early eruption of adult teeth #Early eruption of permanent teeth #Precocious eruption of secondary dentition #Precocious eruption of secondary teeth #Premature eruption of adult teeth\n", + " definition of HP:0006337 (Premature eruption of permanent teeth)\n", + " \n", + " \n", + " Esophageal leukoplakia\n", + " definition of HP:0012859 (Esophageal leukoplakia)\n", + " \n", + " \n", + " A white patch or plaque occurring on the surface of the esophageal mucous membranes that cannot be rubbed off and cannot be characterized clinically as any other disease.\n", + " definition of HP:0012859 (Esophageal leukoplakia)\n", + " \n", + " \n", + " Abnormal circulating dicarboxylic acid concentration\n", + " definition of HP:0010995 (Abnormal circulating dicarboxylic acid concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of a dicarboxylic acid in the blood circulation.\n", + " definition of HP:0010995 (Abnormal circulating dicarboxylic acid concentration)\n", + " \n", + " \n", + " Delayed patellar ossification\n", + " definition of HP:0006454 (Delayed patellar ossification)\n", + " \n", + " \n", + " Formation of bone in the patella later than normal.\n", + " definition of HP:0006454 (Delayed patellar ossification)\n", + " \n", + " \n", + " #Delayed patellae ossification\n", + " definition of HP:0006454 (Delayed patellar ossification)\n", + " \n", + " \n", + " Conus terminalis arteriovenous malformation\n", + " definition of HP:0031939 (Conus terminalis arteriovenous malformation)\n", + " \n", + " \n", + " Muscle hyperirritability\n", + " definition of HP:0003559 (Muscle hyperirritability)\n", + " \n", + " \n", + " Abnormal circulating globulin concentration\n", + " definition of HP:0032179 (Abnormal circulating globulin concentration)\n", + " \n", + " \n", + " An abnormal concentration of globulins in the blood. Albumin makes up more than half of the total protein present in serum. The remaining blood proteins except albumin and fibrinogen (which is not in serum) are referred to as globulins. The globulin fraction includes hundreds of serum proteins including carrier proteins, enzymes, complement, and immunoglobulins. Most of these are synthesized in the liver, although the immunoglobulins are synthesized by plasma cells. Globulins are divided into four groups by electrophoresis. The four fractions are alpha1, alpha2, beta and gamma, depending on their migratory pattern between the anode and the cathode.\n", + " definition of HP:0032179 (Abnormal circulating globulin concentration)\n", + " \n", + " \n", + " #Abnormal circulating globulin level\n", + " definition of HP:0032179 (Abnormal circulating globulin concentration)\n", + " \n", + " \n", + " Depressed glabella\n", + " definition of HP:0011222 (Depressed glabella)\n", + " \n", + " \n", + " Posterior positioning of the glabella, i.e., of the midline forehead between the supraorbital ridges.\n", + " definition of HP:0011222 (Depressed glabella)\n", + " \n", + " \n", + " #Concave glabella #Deficiency of glabella #Deficient area between the eyebrows #Flat area between the eyebrows #Flat glabella #Hypoplasia of glabella\n", + " definition of HP:0011222 (Depressed glabella)\n", + " \n", + " \n", + " Neonatal cholestatic liver disease\n", + " definition of HP:0006566 (Neonatal cholestatic liver disease)\n", + " \n", + " \n", + " Reduced hepatic glucose-6-phosphate translocase activity\n", + " definition of HP:6000201 (Reduced hepatic glucose-6-phosphate translocase activity)\n", + " \n", + " \n", + " Activity of glucose-6-phosphate translocase in liver below the lower limit of normal.\n", + " definition of HP:6000201 (Reduced hepatic glucose-6-phosphate translocase activity)\n", + " \n", + " \n", + " Fragmentation of the epiphysis of the 1st metatarsal\n", + " definition of HP:0010153 (Fragmentation of the epiphysis of the 1st metatarsal)\n", + " \n", + " \n", + " #Fragmentation of the end part of the 1st long bone of foot\n", + " definition of HP:0010153 (Fragmentation of the epiphysis of the 1st metatarsal)\n", + " \n", + " \n", + " Lamellar pulverulent cataract\n", + " definition of HP:0010694 (Lamellar pulverulent cataract)\n", + " \n", + " \n", + " A Lamellar cataract with a pulverulent (punctate, \\"dust-like\\" opacities) appearance.\n", + " definition of HP:0010694 (Lamellar pulverulent cataract)\n", + " \n", + " \n", + " Increased circulating creatine kinase BB isoform\n", + " definition of HP:0032233 (Increased circulating creatine kinase BB isoform)\n", + " \n", + " \n", + " An increased concentration of the BB isoform of creatine kinase in the blood circulation.\n", + " definition of HP:0032233 (Increased circulating creatine kinase BB isoform)\n", + " \n", + " \n", + " #Increased circulating CK BB isoform\n", + " definition of HP:0032233 (Increased circulating creatine kinase BB isoform)\n", + " \n", + " \n", + " Elevated circulating C5 acylcarnitine concentration\n", + " definition of HP:0035019 (Elevated circulating C5 acylcarnitine concentration)\n", + " \n", + " \n", + " Concentration of C5 acylcarnitines in the blood circulation above the upper limit of normal. C5 acylcarnitines have a five-carbon acyl chain.\n", + " definition of HP:0035019 (Elevated circulating C5 acylcarnitine concentration)\n", + " \n", + " \n", + " Dibasicaminoaciduria\n", + " definition of HP:0003168 (Dibasicaminoaciduria)\n", + " \n", + " \n", + " An increased level of a dibasic amino acid in the urine. Dibasic amino acids are usually referred to simply as basic aminoacids because they contain basic side chains at neutral pH. These are arginine (Arg), lysine (Lys), and histidine (His).\n", + " definition of HP:0003168 (Dibasicaminoaciduria)\n", + " \n", + " \n", + " Increased peripheral myelin thickness\n", + " definition of HP:0030174 (Increased peripheral myelin thickness)\n", + " \n", + " \n", + " Elevated thickness of the myelin sheath of peripheral nerves, in a regular and concentric fashion.\n", + " definition of HP:0030174 (Increased peripheral myelin thickness)\n", + " \n", + " \n", + " Peripheral primitive neuroectodermal neoplasm\n", + " definition of HP:0030067 (Peripheral primitive neuroectodermal neoplasm)\n", + " \n", + " \n", + " A primitive neuroectodermal neoplasm that occurs extracranially in soft tissue and bone.\n", + " definition of HP:0030067 (Peripheral primitive neuroectodermal neoplasm)\n", + " \n", + " \n", + " Decreased mucosal sucrase-isomaltase activity\n", + " definition of HP:0033597 (Decreased mucosal sucrase-isomaltase activity)\n", + " \n", + " \n", + " Reduced activity of the linked disaccharidase, sucrase-isomaltase, which is a glycoprotein localized to the brush border membrane of small intestinal villi.\n", + " definition of HP:0033597 (Decreased mucosal sucrase-isomaltase activity)\n", + " \n", + " \n", + " Avoidance of stimuli associated with traumatic event\n", + " definition of HP:0032942 (Avoidance of stimuli associated with traumatic event)\n", + " \n", + " \n", + " Avoidance of or efforts to avoid distressing memories, thoughts, or feelings about or closely associated with the traumatic event(s). Avoidance of or efforts to avoid external reminders (people, places, conversations, activities, objects, situations) that arouse distressing memories, thoughts, or feelings about or closely associated with the traumatic event(s).\n", + " definition of HP:0032942 (Avoidance of stimuli associated with traumatic event)\n", + " \n", + " \n", + " Fallopian tube duplication\n", + " definition of HP:0012885 (Fallopian tube duplication)\n", + " \n", + " \n", + " The presence of a supernumerary Fallopian tube.\n", + " definition of HP:0012885 (Fallopian tube duplication)\n", + " \n", + " \n", + " #Accessory fallopian tube\n", + " definition of HP:0012885 (Fallopian tube duplication)\n", + " \n", + " \n", + " Vaginal adenosis\n", + " definition of HP:0025485 (Vaginal adenosis)\n", + " \n", + " \n", + " Vaginal adenosis is defined by the presence of metaplastic cervical or endometrial epithelium within the vaginal wall, thought to be derived from persistent Müllerian (synonymous with paramesonephric) epithelium islets in postembryonic life.\n", + " definition of HP:0025485 (Vaginal adenosis)\n", + " \n", + " \n", + " Anti-laminin gamma1 antibody positivity\n", + " definition of HP:4000023 (Anti-laminin gamma1 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against laminin gamma-1.\n", + " definition of HP:4000023 (Anti-laminin gamma1 antibody positivity)\n", + " \n", + " \n", + " Meningoencephalocele\n", + " definition of HP:0006888 (Meningoencephalocele)\n", + " \n", + " \n", + " Focal impaired awareness autonomic seizure with palpitations/tachycardia/bradycardia/asystole\n", + " definition of HP:0032788 (Focal impaired awareness autonomic seizure with palpitations/tachycardia/bradycardia/asystole)\n", + " \n", + " \n", + " A focal autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by impaired awareness at some point during the seizure.\n", + " definition of HP:0032788 (Focal impaired awareness autonomic seizure with palpitations/tachycardia/bradycardia/asystole)\n", + " \n", + " \n", + " Flared iliac wing\n", + " definition of HP:0002869 (Flared iliac wing)\n", + " \n", + " \n", + " Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing.\n", + " definition of HP:0002869 (Flared iliac wing)\n", + " \n", + " \n", + " #Flared iliac wings\n", + " definition of HP:0002869 (Flared iliac wing)\n", + " \n", + " \n", + " Elevated urinary dopamine level\n", + " definition of HP:0011979 (Elevated urinary dopamine level)\n", + " \n", + " \n", + " The concentration of dopamine in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:0011979 (Elevated urinary dopamine level)\n", + " \n", + " \n", + " #Elevated urinary dopamine\n", + " definition of HP:0011979 (Elevated urinary dopamine level)\n", + " \n", + " \n", + " Persistent bleeding after trauma\n", + " definition of HP:0001934 (Persistent bleeding after trauma)\n", + " \n", + " \n", + " #Excessive bleeding after minor trauma #Frequent bleeding with trauma #Prolonged bleeding after minor trauma\n", + " definition of HP:0001934 (Persistent bleeding after trauma)\n", + " \n", + " \n", + " Curved phalanges of the 2nd finger\n", + " definition of HP:0009549 (Curved phalanges of the 2nd finger)\n", + " \n", + " \n", + " #Curved index finger bones\n", + " definition of HP:0009549 (Curved phalanges of the 2nd finger)\n", + " \n", + " \n", + " Abnormality of blood circulation\n", + " definition of HP:0011028 (Abnormality of blood circulation)\n", + " \n", + " \n", + " An abnormality of blood circulation.\n", + " definition of HP:0011028 (Abnormality of blood circulation)\n", + " \n", + " \n", + " Decreased palmar creases\n", + " definition of HP:0006184 (Decreased palmar creases)\n", + " \n", + " \n", + " Poorly defined or shallow palmar creases.\n", + " definition of HP:0006184 (Decreased palmar creases)\n", + " \n", + " \n", + " #Hypoplastic palmar creases #Poorly formed palmar creases #Shallow palm line #Shallow palmar creases\n", + " definition of HP:0006184 (Decreased palmar creases)\n", + " \n", + " \n", + " Reduced muscle fiber emerin\n", + " definition of HP:0030118 (Reduced muscle fiber emerin)\n", + " \n", + " \n", + " Immunohistochemistry reveals reduced emerin protein in the muscle biopsy.\n", + " definition of HP:0030118 (Reduced muscle fiber emerin)\n", + " \n", + " \n", + " #Reduced muscle fibre emerin\n", + " definition of HP:0030118 (Reduced muscle fiber emerin)\n", + " \n", + " \n", + " Deep dermatophytosis\n", + " definition of HP:0032515 (Deep dermatophytosis)\n", + " \n", + " \n", + " A type of invasive dermatophyte infection of the deep dermis characterized by extensive dermal infiltration by fungal elements.\n", + " definition of HP:0032515 (Deep dermatophytosis)\n", + " \n", + " \n", + " Hodgkin lymphoma\n", + " definition of HP:0012189 (Hodgkin lymphoma)\n", + " \n", + " \n", + " A type of lymphoma characterized microscopically by multinucleated Reed-Sternberg cells.\n", + " definition of HP:0012189 (Hodgkin lymphoma)\n", + " \n", + " \n", + " #Hodgkin disease #Hodgkin's lymphoma\n", + " definition of HP:0012189 (Hodgkin lymphoma)\n", + " \n", + " \n", + " Exogenous androgen exposure\n", + " definition of HP:0034632 (Exogenous androgen exposure)\n", + " \n", + " \n", + " History of having been treated with an exogenous androgen medication.\n", + " definition of HP:0034632 (Exogenous androgen exposure)\n", + " \n", + " \n", + " #Androgen exposure, exogenous\n", + " definition of HP:0034632 (Exogenous androgen exposure)\n", + " \n", + " \n", + " Epidermal thickening\n", + " definition of HP:0011368 (Epidermal thickening)\n", + " \n", + " \n", + " Thickening of the epidermal layer of the skin.\n", + " definition of HP:0011368 (Epidermal thickening)\n", + " \n", + " \n", + " EEG with occipital slowing\n", + " definition of HP:0011210 (EEG with occipital slowing)\n", + " \n", + " \n", + " Slowing in occipital areas of the scalp EEG.\n", + " definition of HP:0011210 (EEG with occipital slowing)\n", + " \n", + " \n", + " Yellow subcutaneous tissue covered by thin, scaly skin\n", + " definition of HP:0007525 (Yellow subcutaneous tissue covered by thin, scaly skin)\n", + " \n", + " \n", + " Chin myoclonus\n", + " definition of HP:0012462 (Chin myoclonus)\n", + " \n", + " \n", + " Involuntary and irregular twitches of the chin.\n", + " definition of HP:0012462 (Chin myoclonus)\n", + " \n", + " \n", + " #Geniospasm\n", + " definition of HP:0012462 (Chin myoclonus)\n", + " \n", + " \n", + " Impaired epinephrine-induced platelet aggregation\n", + " definition of HP:0008148 (Impaired epinephrine-induced platelet aggregation)\n", + " \n", + " \n", + " Abnormal response to epinephrine as manifested by reduced or lacking aggregation of platelets upon addition of epinephrine.\n", + " definition of HP:0008148 (Impaired epinephrine-induced platelet aggregation)\n", + " \n", + " \n", + " Displacement of the urethral meatus\n", + " definition of HP:0100627 (Displacement of the urethral meatus)\n", + " \n", + " \n", + " A displacement of the external urethral orifice from its normal position (in males normally placed at the tip of glans penis, in females normally placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina).\n", + " definition of HP:0100627 (Displacement of the urethral meatus)\n", + " \n", + " \n", + " #Displacement of the external urethral orifice #Displacement of the male external urethral orifice\n", + " definition of HP:0100627 (Displacement of the urethral meatus)\n", + " \n", + " \n", + " Ossifying fibroma\n", + " definition of HP:0030426 (Ossifying fibroma)\n", + " \n", + " \n", + " A benign central bone tumor composed of fibrous connective tissue within which bone is formed.\n", + " definition of HP:0030426 (Ossifying fibroma)\n", + " \n", + " \n", + " Enlarged epiphyses of the 5th toe\n", + " definition of HP:0100080 (Enlarged epiphyses of the 5th toe)\n", + " \n", + " \n", + " #Enlarged end part of the little toe bone #Enlarged end part of the pinkie toe bone #Enlarged end part of the pinky toe bone\n", + " definition of HP:0100080 (Enlarged epiphyses of the 5th toe)\n", + " \n", + " \n", + " Pulmonary perfusion defect\n", + " definition of HP:6000412 (Pulmonary perfusion defect)\n", + " \n", + " \n", + " Lack of blood perfusion in a specific area of the lung. Pulmonary ventilation (V) and Perfusion (Q) scan, also known as lung V/Q scan, is a nuclear test that uses the perfusion scan to delineate the blood flow distribution and the ventilation scan to measure airflow distribution in the lungs.\n", + " definition of HP:6000412 (Pulmonary perfusion defect)\n", + " \n", + " \n", + " Reduced circulating catalase activity\n", + " definition of HP:0012517 (Reduced circulating catalase activity)\n", + " \n", + " \n", + " Activity or concentration of catalase in the blood circulation below the lower limit of normal.\n", + " definition of HP:0012517 (Reduced circulating catalase activity)\n", + " \n", + " \n", + " #Reduced catalase level\n", + " definition of HP:0012517 (Reduced circulating catalase activity)\n", + " \n", + " \n", + " Extractable nuclear antigen positivity\n", + " definition of HP:0033476 (Extractable nuclear antigen positivity)\n", + " \n", + " \n", + " The presence of autoantibodies in the serum that react against extractable nuclear components that are referred to as extractable because they can be extracted from cell nuclei with saline solution.\n", + " definition of HP:0033476 (Extractable nuclear antigen positivity)\n", + " \n", + " \n", + " Abnormal urinary guanosine level\n", + " definition of HP:0040423 (Abnormal urinary guanosine level)\n", + " \n", + " \n", + " The amount of guanosine in the urine, normalized for urine concentration, is outside the limits of normal.\n", + " definition of HP:0040423 (Abnormal urinary guanosine level)\n", + " \n", + " \n", + " Abnormal alpha granules\n", + " definition of HP:0012483 (Abnormal alpha granules)\n", + " \n", + " \n", + " Defective structure, size or content of alpha granules, platelet organelles that contain several growth factors destined for release during platelet activation at sites of vessel wall injury.\n", + " definition of HP:0012483 (Abnormal alpha granules)\n", + " \n", + " \n", + " Colonization of follicles by lymphoma cells\n", + " definition of HP:0020244 (Colonization of follicles by lymphoma cells)\n", + " \n", + " \n", + " In contrast to follicular lymphoma, which typically is a lymphoma that forms follicles or potentially completely replaces normal follicles, some lymphomas (most commonly marginal zone lymphoma) can infiltrate normal follicles so both normal lymphocytes and the infiltrating lymphoma cells are present. This is called colonization of follicles by the lymphoma cells.\n", + " definition of HP:0020244 (Colonization of follicles by lymphoma cells)\n", + " \n", + " \n", + " #Follicular colonisation #Follicular colonization\n", + " definition of HP:0020244 (Colonization of follicles by lymphoma cells)\n", + " \n", + " \n", + " Borderline\n", + " definition of HP:0012827 (Borderline)\n", + " \n", + " \n", + " Having a minor degree of severity that is considered to be on the boundary between the normal and the abnormal ranges. For quantitative traits, a deviation of that is less than two standard deviations from the appropriate population mean.\n", + " definition of HP:0012827 (Borderline)\n", + " \n", + " \n", + " #Borderline\n", + " definition of HP:0012827 (Borderline)\n", + " \n", + " \n", + " Sparse axillary hair\n", + " definition of HP:0002215 (Sparse axillary hair)\n", + " \n", + " \n", + " Reduced number or density of axillary hair.\n", + " definition of HP:0002215 (Sparse axillary hair)\n", + " \n", + " \n", + " #Limited armpit hair #Little underarm hair #sparse to absent axillary hair\n", + " definition of HP:0002215 (Sparse axillary hair)\n", + " \n", + " \n", + " Osteolytic defects of the hand bones\n", + " definition of HP:0009699 (Osteolytic defects of the hand bones)\n", + " \n", + " \n", + " #Lytic defects of hand bones\n", + " definition of HP:0009699 (Osteolytic defects of the hand bones)\n", + " \n", + " \n", + " Caudate atrophy\n", + " definition of HP:0002340 (Caudate atrophy)\n", + " \n", + " \n", + " #Caudate degeneration\n", + " definition of HP:0002340 (Caudate atrophy)\n", + " \n", + " \n", + " Long term memory impairment\n", + " definition of HP:0033688 (Long term memory impairment)\n", + " \n", + " \n", + " A deficit in the ability to retrieve information from long-term memory, which can be defined as a seemingly unlimited capacity to store memories can last years and relate to the performance of actions or skills (i.e., procedural memories, knowing how) and memories of facts, rules, concepts, and events (i.e., declarative memories, knowing that).\n", + " definition of HP:0033688 (Long term memory impairment)\n", + " \n", + " \n", + " #Long term memory loss\n", + " definition of HP:0033688 (Long term memory impairment)\n", + " \n", + " \n", + " Focal aware cognitive seizure with dysgraphia/agraphia\n", + " definition of HP:0032709 (Focal aware cognitive seizure with dysgraphia/agraphia)\n", + " \n", + " \n", + " A focal cognitive seizure with dysgraphia / agraphia characterized by retained awareness throughout the seizure.\n", + " definition of HP:0032709 (Focal aware cognitive seizure with dysgraphia/agraphia)\n", + " \n", + " \n", + " Complete duplication of the distal phalanges of the hand\n", + " definition of HP:0010001 (Complete duplication of the distal phalanges of the hand)\n", + " \n", + " \n", + " A complete duplication affecting one or more of the distal phalanges of the hand.\n", + " definition of HP:0010001 (Complete duplication of the distal phalanges of the hand)\n", + " \n", + " \n", + " #Complete duplication of the outermost bones of the hand\n", + " definition of HP:0010001 (Complete duplication of the distal phalanges of the hand)\n", + " \n", + " \n", + " Irregular epiphysis of the proximal phalanx of the 2nd finger\n", + " definition of HP:0009529 (Irregular epiphysis of the proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Irregular end part of innermost long bone of index finger\n", + " definition of HP:0009529 (Irregular epiphysis of the proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Oxygen desaturation on exertion\n", + " definition of HP:0030874 (Oxygen desaturation on exertion)\n", + " \n", + " \n", + " Oxygen saturation less than 95% on exertion or arterial partial pressure of oxygen falling by more than 1kPa.\n", + " definition of HP:0030874 (Oxygen desaturation on exertion)\n", + " \n", + " \n", + " #O2 desaturation on exertion\n", + " definition of HP:0030874 (Oxygen desaturation on exertion)\n", + " \n", + " \n", + " Chills\n", + " definition of HP:0025143 (Chills)\n", + " \n", + " \n", + " A sudden sensation of feeling cold.\n", + " definition of HP:0025143 (Chills)\n", + " \n", + " \n", + " #Chills\n", + " definition of HP:0025143 (Chills)\n", + " \n", + " \n", + " Small earlobe\n", + " definition of HP:0000385 (Small earlobe)\n", + " \n", + " \n", + " Reduced volume of the earlobe.\n", + " definition of HP:0000385 (Small earlobe)\n", + " \n", + " \n", + " #Hypoplastic earlobes #Hypoplastic lobules #Small earlobe #Small earlobes\n", + " definition of HP:0000385 (Small earlobe)\n", + " \n", + " \n", + " Abnormality of vision\n", + " definition of HP:0000504 (Abnormality of vision)\n", + " \n", + " \n", + " Abnormality of eyesight (visual perception).\n", + " definition of HP:0000504 (Abnormality of vision)\n", + " \n", + " \n", + " #Abnormality of sight #Abnormality of vision #Vision issue\n", + " definition of HP:0000504 (Abnormality of vision)\n", + " \n", + " \n", + " Absent distal phalanx of the 2nd toe\n", + " definition of HP:0010432 (Absent distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Absence of distal phalanx of the second toe as a result of developmental aplasia.\n", + " definition of HP:0010432 (Absent distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Absent distal phalanx of the second toe #Absent outermost bone of the 2nd toe #Aplasia of the distal phalanx of the 2nd toe\n", + " definition of HP:0010432 (Absent distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Increased ratio of VWF propeptide to VWF antigen\n", + " definition of HP:0040240 (Increased ratio of VWF propeptide to VWF antigen)\n", + " \n", + " \n", + " An increased VWF propeptide to VWF antigen indicates that deficiency of VWF is not due to impaired synthesis but due to rapid clearance. The VWF propeptide is measured by ELISA.\n", + " definition of HP:0040240 (Increased ratio of VWF propeptide to VWF antigen)\n", + " \n", + " \n", + " Stippling of the epiphysis of the proximal phalanx of the 5th finger\n", + " definition of HP:0009201 (Stippling of the epiphysis of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 5th finger.\n", + " definition of HP:0009201 (Stippling of the epiphysis of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " #Speckled calcifications in end part of the innnermost bone of the little finger #Speckled calcifications in end part of the innnermost bone of the pinkie finger #Speckled calcifications in end part of the innnermost bone of the pinky finger\n", + " definition of HP:0009201 (Stippling of the epiphysis of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " Bone-marrow foam cells\n", + " definition of HP:0004333 (Bone-marrow foam cells)\n", + " \n", + " \n", + " The presence of foam cells in the bone marrow, generally demonstrated by bone-marrow aspiration or biopsy. Foam cells have a vacuolated appearance due to the presence of complex lipid deposits, giving them a foamy or soap-suds appearance.\n", + " definition of HP:0004333 (Bone-marrow foam cells)\n", + " \n", + " \n", + " #Bone marrow foam cells #Large vacuolated foam cells ('NP cells') on bone marrow biopsy #Large vacuolated foam cells on bone marrow biopsy\n", + " definition of HP:0004333 (Bone-marrow foam cells)\n", + " \n", + " \n", + " Dilatated internal auditory canal\n", + " definition of HP:0004458 (Dilatated internal auditory canal)\n", + " \n", + " \n", + " The presence of a dilated inner part of external acoustic meatus.\n", + " definition of HP:0004458 (Dilatated internal auditory canal)\n", + " \n", + " \n", + " #Bulbous internal auditory canal #Enlarged internal auditory canal\n", + " definition of HP:0004458 (Dilatated internal auditory canal)\n", + " \n", + " \n", + " Premature loss of permanent teeth\n", + " definition of HP:0006357 (Premature loss of permanent teeth)\n", + " \n", + " \n", + " Premature loss of the permanent teeth.\n", + " definition of HP:0006357 (Premature loss of permanent teeth)\n", + " \n", + " \n", + " #Early loss of adult teeth #Early loss of permanent teeth #Early loss of secondary dentition #Premature loss of adult teeth #Premature loss of secondary teeth\n", + " definition of HP:0006357 (Premature loss of permanent teeth)\n", + " \n", + " \n", + " Pinhole visual acuity 0.1 LogMAR\n", + " definition of HP:0030569 (Pinhole visual acuity 0.1 LogMAR)\n", + " \n", + " \n", + " Maternal anticardiolipin antibody positive\n", + " definition of HP:0012536 (Maternal anticardiolipin antibody positive)\n", + " \n", + " \n", + " The presence of circulating autoantibodies to anticardiolipin in the mother.\n", + " definition of HP:0012536 (Maternal anticardiolipin antibody positive)\n", + " \n", + " \n", + " Simple ear\n", + " definition of HP:0020206 (Simple ear)\n", + " \n", + " \n", + " The pinna has fewer folds and grooves than usual.\n", + " definition of HP:0020206 (Simple ear)\n", + " \n", + " \n", + " Progressive encephalopathy\n", + " definition of HP:0002448 (Progressive encephalopathy)\n", + " \n", + " \n", + " Typical absence seizure\n", + " definition of HP:0011147 (Typical absence seizure)\n", + " \n", + " \n", + " A typical absence seizure is a type of generalized non-motor (absence) seizure characterized by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event.\n", + " definition of HP:0011147 (Typical absence seizure)\n", + " \n", + " \n", + " #Typical absence #Typical absence seizures\n", + " definition of HP:0011147 (Typical absence seizure)\n", + " \n", + " \n", + " Ankle pain\n", + " definition of HP:0030840 (Ankle pain)\n", + " \n", + " \n", + " An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the ankle.\n", + " definition of HP:0030840 (Ankle pain)\n", + " \n", + " \n", + " #Ankle pain\n", + " definition of HP:0030840 (Ankle pain)\n", + " \n", + " \n", + " Abnormal semicircular canal morphology\n", + " definition of HP:0011380 (Abnormal semicircular canal morphology)\n", + " \n", + " \n", + " An abnormality of the morphology of the semicircular canal.\n", + " definition of HP:0011380 (Abnormal semicircular canal morphology)\n", + " \n", + " \n", + " #Morphological abnormality of the semicircular canal\n", + " definition of HP:0011380 (Abnormal semicircular canal morphology)\n", + " \n", + " \n", + " Toe clinodactyly\n", + " definition of HP:0001863 (Toe clinodactyly)\n", + " \n", + " \n", + " Bending or curvature of a toe in the tibial direction (i.e., towards the big toe).\n", + " definition of HP:0001863 (Toe clinodactyly)\n", + " \n", + " \n", + " #Clinodactyly of feet\n", + " definition of HP:0001863 (Toe clinodactyly)\n", + " \n", + " \n", + " Elevated natural killer cell count\n", + " definition of HP:6000677 (Elevated natural killer cell count)\n", + " \n", + " \n", + " The count of natural killer cells per volume of blood is above the upper limit of normal.\n", + " definition of HP:6000677 (Elevated natural killer cell count)\n", + " \n", + " \n", + " Renal arteriole neutrophil endoarterial hypercellularity\n", + " definition of HP:0033924 (Renal arteriole neutrophil endoarterial hypercellularity)\n", + " \n", + " \n", + " A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased numbers of neutrophils within the arteriolar lumen.\n", + " definition of HP:0033924 (Renal arteriole neutrophil endoarterial hypercellularity)\n", + " \n", + " \n", + " #Endoarterial hypercellularity within arterioles consisting of neutrophils\n", + " definition of HP:0033924 (Renal arteriole neutrophil endoarterial hypercellularity)\n", + " \n", + " \n", + " Moderately short stature\n", + " definition of HP:0008848 (Moderately short stature)\n", + " \n", + " \n", + " A moderate degree of short stature, more than -3 SD but not more than -4 SD from mean corrected for age and sex.\n", + " definition of HP:0008848 (Moderately short stature)\n", + " \n", + " \n", + " #Moderate short stature\n", + " definition of HP:0008848 (Moderately short stature)\n", + " \n", + " \n", + " Abnormal triceps skinfold thickness\n", + " definition of HP:0033171 (Abnormal triceps skinfold thickness)\n", + " \n", + " \n", + " Any deviation from the normal range of the thickness of the triceps skinfold, which quantifies the amount of subcutaneous fat when the skin is pinched by specialized calipers.\n", + " definition of HP:0033171 (Abnormal triceps skinfold thickness)\n", + " \n", + " \n", + " Focal cognitive seizure with illusion\n", + " definition of HP:0012008 (Focal cognitive seizure with illusion)\n", + " \n", + " \n", + " A focal cognitive seizure characterized by an alteration of actual perception involving visual, auditory, somatosensory, olfactory, and/or gustatory phenomena as the initial semiological manifestation.\n", + " definition of HP:0012008 (Focal cognitive seizure with illusion)\n", + " \n", + " \n", + " #Illusory aura #Illusory auras\n", + " definition of HP:0012008 (Focal cognitive seizure with illusion)\n", + " \n", + " \n", + " Focal autonomic seizure with pallor/flushing\n", + " definition of HP:0032762 (Focal autonomic seizure with pallor/flushing)\n", + " \n", + " \n", + " A type of focal autonomic seizure characterized by changes of the skin as the initial semiological feature.\n", + " definition of HP:0032762 (Focal autonomic seizure with pallor/flushing)\n", + " \n", + " \n", + " Dilatation of Inferior mesenteric artery\n", + " definition of HP:0100860 (Dilatation of Inferior mesenteric artery)\n", + " \n", + " \n", + " Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery .\n", + " definition of HP:0100860 (Dilatation of Inferior mesenteric artery)\n", + " \n", + " \n", + " Abnormal brain N-acetyl aspartate level by MRS\n", + " definition of HP:0025052 (Abnormal brain N-acetyl aspartate level by MRS)\n", + " \n", + " \n", + " A deviation from normal in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS).\n", + " definition of HP:0025052 (Abnormal brain N-acetyl aspartate level by MRS)\n", + " \n", + " \n", + " #Abnormal brain N-acetyl aspartate level by magnetic resonance spectroscopy\n", + " definition of HP:0025052 (Abnormal brain N-acetyl aspartate level by MRS)\n", + " \n", + " \n", + " Increased insulin like growth factor binding protein acid labile subunit concentration\n", + " definition of HP:0034184 (Increased insulin like growth factor binding protein acid labile subunit concentration)\n", + " \n", + " \n", + " An abnormally elevated concentration of insulin like growth factor binding protein acid labile subunit level in the blood circulation.\n", + " definition of HP:0034184 (Increased insulin like growth factor binding protein acid labile subunit concentration)\n", + " \n", + " \n", + " #Increased circulating IGFALS contration\n", + " definition of HP:0034184 (Increased insulin like growth factor binding protein acid labile subunit concentration)\n", + " \n", + " \n", + " Skin dimple\n", + " definition of HP:0010781 (Skin dimple)\n", + " \n", + " \n", + " Skin dimples are cutaneous indentations that are the result of tethering of the skin to underlying structures (bone) causing an indentation.\n", + " definition of HP:0010781 (Skin dimple)\n", + " \n", + " \n", + " #Skin dimples\n", + " definition of HP:0010781 (Skin dimple)\n", + " \n", + " \n", + " Triangular epiphysis of the middle phalanx of the 3rd toe\n", + " definition of HP:0100156 (Triangular epiphysis of the middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Triangular end part of the middle bone of the 3rd toe\n", + " definition of HP:0100156 (Triangular epiphysis of the middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " Progressive hearing impairment\n", + " definition of HP:0001730 (Progressive hearing impairment)\n", + " \n", + " \n", + " A progressive form of hearing impairment.\n", + " definition of HP:0001730 (Progressive hearing impairment)\n", + " \n", + " \n", + " #Progressive hearing loss\n", + " definition of HP:0001730 (Progressive hearing impairment)\n", + " \n", + " \n", + " Ureteral stenosis\n", + " definition of HP:0000071 (Ureteral stenosis)\n", + " \n", + " \n", + " The presence of a stenotic, i.e., constricted ureter.\n", + " definition of HP:0000071 (Ureteral stenosis)\n", + " \n", + " \n", + " #Narrowing of the ureter\n", + " definition of HP:0000071 (Ureteral stenosis)\n", + " \n", + " \n", + " Fragmentation of the epiphysis of the proximal phalanx of the 4th finger\n", + " definition of HP:0009265 (Fragmentation of the epiphysis of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " Fragmented appearance of the epiphysis of the proximal phalanx of the 4th finger.\n", + " definition of HP:0009265 (Fragmentation of the epiphysis of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " #Fragmentation of end part of the innermost bone of the ring finger\n", + " definition of HP:0009265 (Fragmentation of the epiphysis of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " Bilateral elbow dislocations\n", + " definition of HP:0005021 (Bilateral elbow dislocations)\n", + " \n", + " \n", + " #Dislocated elbows on both sides\n", + " definition of HP:0005021 (Bilateral elbow dislocations)\n", + " \n", + " \n", + " Synostosis of joints\n", + " definition of HP:0100240 (Synostosis of joints)\n", + " \n", + " \n", + " The abnormal fusion of neighboring bones across a joint.\n", + " definition of HP:0100240 (Synostosis of joints)\n", + " \n", + " \n", + " #Bony ankylosis #Fusion of joints\n", + " definition of HP:0100240 (Synostosis of joints)\n", + " \n", + " \n", + " Abdominal wall mass\n", + " definition of HP:6000171 (Abdominal wall mass)\n", + " \n", + " \n", + " An abnormal enlargement or swelling localized to the abdominal wall (the skin, fascia, and muscle encases the abdominal cavity and viscera). The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.\n", + " definition of HP:6000171 (Abdominal wall mass)\n", + " \n", + " \n", + " Cyclodeviation\n", + " definition of HP:0025589 (Cyclodeviation)\n", + " \n", + " \n", + " Cyclodeviation is defined as the rotation of an eyeball along the anteroposterior axis and cyclotropia as a misalignment of cyclodeviation between the two eyes.\n", + " definition of HP:0025589 (Cyclodeviation)\n", + " \n", + " \n", + " Left-to-right shunt\n", + " definition of HP:0012382 (Left-to-right shunt)\n", + " \n", + " \n", + " Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the left side of the heart to the right.\n", + " definition of HP:0012382 (Left-to-right shunt)\n", + " \n", + " \n", + " Impaired heel-walking ability\n", + " definition of HP:6000490 (Impaired heel-walking ability)\n", + " \n", + " \n", + " Difficulty or reduced ability to walk on heels. Heel-walking can be tested as a part of the neurological examination. Foot dorsal extension weakness leads to difficulties in walking on heels.\n", + " definition of HP:6000490 (Impaired heel-walking ability)\n", + " \n", + " \n", + " Pelvic lipomatosis\n", + " definition of HP:0034009 (Pelvic lipomatosis)\n", + " \n", + " \n", + " Overgrowth of fat in the perivesical and perirectal area.\n", + " definition of HP:0034009 (Pelvic lipomatosis)\n", + " \n", + " \n", + " Elevated urinary ureidopropionic acid level\n", + " definition of HP:6000534 (Elevated urinary ureidopropionic acid level)\n", + " \n", + " \n", + " The amount of ureidopropionic acid in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000534 (Elevated urinary ureidopropionic acid level)\n", + " \n", + " \n", + " #Ureidopropionic acid high in urine\n", + " definition of HP:6000534 (Elevated urinary ureidopropionic acid level)\n", + " \n", + " \n", + " Abnormal functional residual capacity\n", + " definition of HP:0033749 (Abnormal functional residual capacity)\n", + " \n", + " \n", + " A deviation from normal values for the functional residual capacity, which is defined as the volume remaining in the lungs after a normal, passive exhalation.\n", + " definition of HP:0033749 (Abnormal functional residual capacity)\n", + " \n", + " \n", + " Swollen achromatic neurons in the cerebral cortex\n", + " definition of HP:0034717 (Swollen achromatic neurons in the cerebral cortex)\n", + " \n", + " \n", + " The presence of enlarged and swollen neurons that lack Nissl bodies (the rough endoplasmic reticulum-achromasia refers to neurons that lack Nissl bodies) in the cortex of the brain.\n", + " definition of HP:0034717 (Swollen achromatic neurons in the cerebral cortex)\n", + " \n", + " \n", + " #Cerebral cortex Pick cells #Cerebral cortex swollen achromatic neurons\n", + " definition of HP:0034717 (Swollen achromatic neurons in the cerebral cortex)\n", + " \n", + " \n", + " Low alkaline phosphatase of renal origin\n", + " definition of HP:0010685 (Low alkaline phosphatase of renal origin)\n", + " \n", + " \n", + " An abnormally reduced level of kidney isoforms of alkaline phosphatase in the blood.\n", + " definition of HP:0010685 (Low alkaline phosphatase of renal origin)\n", + " \n", + " \n", + " #Low ALP of renal origin\n", + " definition of HP:0010685 (Low alkaline phosphatase of renal origin)\n", + " \n", + " \n", + " Finger aplasia\n", + " definition of HP:0009380 (Finger aplasia)\n", + " \n", + " \n", + " A developmental defect resulting in the presence of fewer than the normal number of fingers (i.e., aplasia of one or more fingers).\n", + " definition of HP:0009380 (Finger aplasia)\n", + " \n", + " \n", + " #Absent fingers #Aplasia of the fingers #Hand has less than 5 fingers #Hand oligodactyly\n", + " definition of HP:0009380 (Finger aplasia)\n", + " \n", + " \n", + " Hypodeviation\n", + " definition of HP:0025588 (Hypodeviation)\n", + " \n", + " \n", + " A type of strabismus in which the visual axis of one eye is lower than that of the other.\n", + " definition of HP:0025588 (Hypodeviation)\n", + " \n", + " \n", + " Lamellar cataract with riders\n", + " definition of HP:0025558 (Lamellar cataract with riders)\n", + " \n", + " \n", + " Lamellar cataracts with associated linear lens opacities radially extending towards the periphery of the lens.\n", + " definition of HP:0025558 (Lamellar cataract with riders)\n", + " \n", + " \n", + " Pseudoepiphysis of the middle phalanx of the 4th toe\n", + " definition of HP:0100187 (Pseudoepiphysis of the middle phalanx of the 4th toe)\n", + " \n", + " \n", + " A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the middle phalanx of the fourth toe.\n", + " definition of HP:0100187 (Pseudoepiphysis of the middle phalanx of the 4th toe)\n", + " \n", + " \n", + " Elevated urinary 3-hydroxypentanoic acid level\n", + " definition of HP:6000604 (Elevated urinary 3-hydroxypentanoic acid level)\n", + " \n", + " \n", + " The amount of 3-hydroxypentanoic acid in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000604 (Elevated urinary 3-hydroxypentanoic acid level)\n", + " \n", + " \n", + " Decreased circulating ceruloplasmin concentration\n", + " definition of HP:0010837 (Decreased circulating ceruloplasmin concentration)\n", + " \n", + " \n", + " Decreased concentration of ceruloplasmin in the blood.\n", + " definition of HP:0010837 (Decreased circulating ceruloplasmin concentration)\n", + " \n", + " \n", + " #Decreased serum ceruloplasmin #Decreased serum ceruloplasminA #Hypoceruloplasminaemia #Hypoceruloplasminemia\n", + " definition of HP:0010837 (Decreased circulating ceruloplasmin concentration)\n", + " \n", + " \n", + " Retrognathia\n", + " definition of HP:0000278 (Retrognathia)\n", + " \n", + " \n", + " An abnormality in which the mandible is mislocalised posteriorly.\n", + " definition of HP:0000278 (Retrognathia)\n", + " \n", + " \n", + " #Lower jaw retrognathia #Receding chin #Receding lower jaw #Receding mandible #Retrognathia of lower jaw #Weak chin #Weak jaw\n", + " definition of HP:0000278 (Retrognathia)\n", + " \n", + " \n", + " Bone arteriovenous malformation\n", + " definition of HP:6000587 (Bone arteriovenous malformation)\n", + " \n", + " \n", + " An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in a bone.\n", + " definition of HP:6000587 (Bone arteriovenous malformation)\n", + " \n", + " \n", + " #Bone vascular malformation\n", + " definition of HP:6000587 (Bone arteriovenous malformation)\n", + " \n", + " \n", + " Status epilepticus\n", + " definition of HP:0002133 (Status epilepticus)\n", + " \n", + " \n", + " Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures.\n", + " definition of HP:0002133 (Status epilepticus)\n", + " \n", + " \n", + " #Prolonged seizure #Repeated seizure without recovery #Repeated seizures without recovery between them\n", + " definition of HP:0002133 (Status epilepticus)\n", + " \n", + " \n", + " Focal aware sensory seizure with cephalic sensation\n", + " definition of HP:0032873 (Focal aware sensory seizure with cephalic sensation)\n", + " \n", + " \n", + " A seizure characterized by a sensation in the head such as light-headedness or headache.\n", + " definition of HP:0032873 (Focal aware sensory seizure with cephalic sensation)\n", + " \n", + " \n", + " Short iliac bones\n", + " definition of HP:0100866 (Short iliac bones)\n", + " \n", + " \n", + " Underdevelopment of the iliac bones.\n", + " definition of HP:0100866 (Short iliac bones)\n", + " \n", + " \n", + " #Short pelvis bones\n", + " definition of HP:0100866 (Short iliac bones)\n", + " \n", + " \n", + " Movement abnormality of the tongue\n", + " definition of HP:0000182 (Movement abnormality of the tongue)\n", + " \n", + " \n", + " #Abnormality of lingual movement #Movement abnormality of the tongue\n", + " definition of HP:0000182 (Movement abnormality of the tongue)\n", + " \n", + " \n", + " Dysmenorrhea\n", + " definition of HP:0100607 (Dysmenorrhea)\n", + " \n", + " \n", + " Pain during menstruation that interferes with daily activities.\n", + " definition of HP:0100607 (Dysmenorrhea)\n", + " \n", + " \n", + " #Painful menstruation\n", + " definition of HP:0100607 (Dysmenorrhea)\n", + " \n", + " \n", + " Intractable diarrhea\n", + " definition of HP:0002041 (Intractable diarrhea)\n", + " \n", + " \n", + " #Intractable diarrhoea\n", + " definition of HP:0002041 (Intractable diarrhea)\n", + " \n", + " \n", + " Abnormality of uvular muscle\n", + " definition of HP:0430017 (Abnormality of uvular muscle)\n", + " \n", + " \n", + " An abnormality of the uvular muscle\n", + " definition of HP:0430017 (Abnormality of uvular muscle)\n", + " \n", + " \n", + " #Abnormality of musculus uvulae\n", + " definition of HP:0430017 (Abnormality of uvular muscle)\n", + " \n", + " \n", + " Reduced erythrocyte glutathione concentration\n", + " definition of HP:0034738 (Reduced erythrocyte glutathione concentration)\n", + " \n", + " \n", + " Concentration of glutathione in red blood cells below the lower limit of normal. Glutathione (GSH) is an important redox active biomolecule critical in the maintenance and regulation of cellular and organismal health.\n", + " definition of HP:0034738 (Reduced erythrocyte glutathione concentration)\n", + " \n", + " \n", + " Protein avoidance\n", + " definition of HP:0002038 (Protein avoidance)\n", + " \n", + " \n", + " Absent epiphysis of the distal phalanx of the 4th toe\n", + " definition of HP:0100169 (Absent epiphysis of the distal phalanx of the 4th toe)\n", + " \n", + " \n", + " #Absent end part of the outermost bone of the 4th toe\n", + " definition of HP:0100169 (Absent epiphysis of the distal phalanx of the 4th toe)\n", + " \n", + " \n", + " Glycosuria\n", + " definition of HP:0003076 (Glycosuria)\n", + " \n", + " \n", + " An increased concentration of glucose in the urine.\n", + " definition of HP:0003076 (Glycosuria)\n", + " \n", + " \n", + " #Glucose in urine #Glucosuria\n", + " definition of HP:0003076 (Glycosuria)\n", + " \n", + " \n", + " Mixed hypo- and hyperpigmentation of the skin\n", + " definition of HP:0009123 (Mixed hypo- and hyperpigmentation of the skin)\n", + " \n", + " \n", + " Rieger anomaly\n", + " definition of HP:0000558 (Rieger anomaly)\n", + " \n", + " \n", + " A congenital malformation of the anterior segment characterized by iridicorneal malformation, glaucoma, iris stroma hypoplasia, posterior embryotoxon, and corneal opacities.\n", + " definition of HP:0000558 (Rieger anomaly)\n", + " \n", + " \n", + " Elevated stool chloride content\n", + " definition of HP:0034470 (Elevated stool chloride content)\n", + " \n", + " \n", + " Elevated amount of chloride in the stool.\n", + " definition of HP:0034470 (Elevated stool chloride content)\n", + " \n", + " \n", + " #Chloride high in stool #Elevations in faecal chloride concentration #Elevations in fecal chloride concentration\n", + " definition of HP:0034470 (Elevated stool chloride content)\n", + " \n", + " \n", + " Narrow joint spaces of wrist\n", + " definition of HP:0004048 (Narrow joint spaces of wrist)\n", + " \n", + " \n", + " Increased CSF N-acetylaspartic acid concentration\n", + " definition of HP:0032274 (Increased CSF N-acetylaspartic acid concentration)\n", + " \n", + " \n", + " An abnormally increased concentration of N-acetylaspartic acid in the cerebrospinal fluid (CSF).\n", + " definition of HP:0032274 (Increased CSF N-acetylaspartic acid concentration)\n", + " \n", + " \n", + " #Increased N-acetyl aspartate levels in CSF #Increased N-acetyl aspartic acid levels in CSF #Increased N-acetyl-L-aspartic acid levels in CSF #Increased N-acetylaspartate levels in CSF #Increased NAA levels in CSF\n", + " definition of HP:0032274 (Increased CSF N-acetylaspartic acid concentration)\n", + " \n", + " \n", + " Small thenar eminence\n", + " definition of HP:0001245 (Small thenar eminence)\n", + " \n", + " \n", + " Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb.\n", + " definition of HP:0001245 (Small thenar eminence)\n", + " \n", + " \n", + " #Decreased thenar eminence #Hypoplastic thenar eminences #Thenar hypoplasia #Thenar muscle hypoplasia\n", + " definition of HP:0001245 (Small thenar eminence)\n", + " \n", + " \n", + " Abnormality of salivation\n", + " definition of HP:0100755 (Abnormality of salivation)\n", + " \n", + " \n", + " #Abnormal spit #Abnormality of salivation\n", + " definition of HP:0100755 (Abnormality of salivation)\n", + " \n", + " \n", + " Abnormal natural killer cell count\n", + " definition of HP:0040089 (Abnormal natural killer cell count)\n", + " \n", + " \n", + " Any deviation from the normal overall count of natural killer (NK) cells in the circulation or a deviation from the normal distribution of NK cell subtypes.\n", + " definition of HP:0040089 (Abnormal natural killer cell count)\n", + " \n", + " \n", + " #Abnormal NK cell count #Abnormal number of natural killer cells #Abnormality of natural killer cell count\n", + " definition of HP:0040089 (Abnormal natural killer cell count)\n", + " \n", + " \n", + " Vaginismus\n", + " definition of HP:0030017 (Vaginismus)\n", + " \n", + " \n", + " Recurrent or persistent involuntary spasms of the musculature of the outer third of the vagina that interferes with vaginal penetration, and which causes personal distress.\n", + " definition of HP:0030017 (Vaginismus)\n", + " \n", + " \n", + " #Myalgia of pelvic floor #Pelvic floor myalgia\n", + " definition of HP:0030017 (Vaginismus)\n", + " \n", + " \n", + " Stenosis of the medullary cavity of the long bones\n", + " definition of HP:0100254 (Stenosis of the medullary cavity of the long bones)\n", + " \n", + " \n", + " Clustered lymph node epithelioid histiocytes\n", + " definition of HP:0020241 (Clustered lymph node epithelioid histiocytes)\n", + " \n", + " \n", + " Formation of clusters (group of cells positioned near each other) of epithelioid histiocytes within a lymph node.\n", + " definition of HP:0020241 (Clustered lymph node epithelioid histiocytes)\n", + " \n", + " \n", + " Undetectable light- and dark-adapted electroretinogram\n", + " definition of HP:0007688 (Undetectable light- and dark-adapted electroretinogram)\n", + " \n", + " \n", + " Absence of the combined rod-and-cone response on electroretinogram.\n", + " definition of HP:0007688 (Undetectable light- and dark-adapted electroretinogram)\n", + " \n", + " \n", + " #Absent cone and rod functions by electroretinogram #Absent rod-and cone-mediated responses on ERG\n", + " definition of HP:0007688 (Undetectable light- and dark-adapted electroretinogram)\n", + " \n", + " \n", + " Central opacification of the cornea\n", + " definition of HP:0011493 (Central opacification of the cornea)\n", + " \n", + " \n", + " Reduced transparency of the central portion of the corneal stroma.\n", + " definition of HP:0011493 (Central opacification of the cornea)\n", + " \n", + " \n", + " Hypovalinemia\n", + " definition of HP:0500132 (Hypovalinemia)\n", + " \n", + " \n", + " A decreased amount of valine in the blood.\n", + " definition of HP:0500132 (Hypovalinemia)\n", + " \n", + " \n", + " #Low blood valine concentration\n", + " definition of HP:0500132 (Hypovalinemia)\n", + " \n", + " \n", + " Anomalous origin of the left circumflex artery from the right coronary artery\n", + " definition of HP:0031537 (Anomalous origin of the left circumflex artery from the right coronary artery)\n", + " \n", + " \n", + " An abnormal origin of the left circumflex artery (LCX) from the right coronary artery. Normally, the left anterior descending (LAD) and the LCX arise from a common stem, the left main coronary artery (LMCA).\n", + " definition of HP:0031537 (Anomalous origin of the left circumflex artery from the right coronary artery)\n", + " \n", + " \n", + " Distal tapering femur\n", + " definition of HP:0006408 (Distal tapering femur)\n", + " \n", + " \n", + " #Tapering of outermost end of thighbone\n", + " definition of HP:0006408 (Distal tapering femur)\n", + " \n", + " \n", + " Renal arteriolar lumen organized thrombi\n", + " definition of HP:0033893 (Renal arteriolar lumen organized thrombi)\n", + " \n", + " \n", + " Thrombi containing fibrous tissue and capillary-like vascular channels located within the lumen of the arterioles of the kidney.\n", + " definition of HP:0033893 (Renal arteriolar lumen organized thrombi)\n", + " \n", + " \n", + " Ureter duplex\n", + " definition of HP:0012572 (Ureter duplex)\n", + " \n", + " \n", + " A complete duplication of the ureter, where the duplicated ureters have separate insertions into the bladder.\n", + " definition of HP:0012572 (Ureter duplex)\n", + " \n", + " \n", + " Abnormal circulating aldolase concentration\n", + " definition of HP:0012400 (Abnormal circulating aldolase concentration)\n", + " \n", + " \n", + " An abnormal concentration of aldolase in the serum. Aldolase is an enzyme responsible for converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate and glyceraldehyde 3-phosphate.\n", + " definition of HP:0012400 (Abnormal circulating aldolase concentration)\n", + " \n", + " \n", + " #Abnormal aldolase level\n", + " definition of HP:0012400 (Abnormal circulating aldolase concentration)\n", + " \n", + " \n", + " Abnormal urine sebacic acid concentration\n", + " definition of HP:0500251 (Abnormal urine sebacic acid concentration)\n", + " \n", + " \n", + " Abnormal concentration of sebacic acid in the urine.\n", + " definition of HP:0500251 (Abnormal urine sebacic acid concentration)\n", + " \n", + " \n", + " #Abnormal urine decanedioic acid concentration\n", + " definition of HP:0500251 (Abnormal urine sebacic acid concentration)\n", + " \n", + " \n", + " Diminished circulating reduced nicotinamide adenine dinucleotide (NADH) concentration\n", + " definition of HP:6000406 (Diminished circulating reduced nicotinamide adenine dinucleotide (NADH) concentration)\n", + " \n", + " \n", + " The concentration of reduced nicotinamide adenine dinucleotide (NADH) in the blood circulation is below the lower limit of normal.\n", + " definition of HP:6000406 (Diminished circulating reduced nicotinamide adenine dinucleotide (NADH) concentration)\n", + " \n", + " \n", + " Abnormal distal femoral metaphysis morphology\n", + " definition of HP:0030299 (Abnormal distal femoral metaphysis morphology)\n", + " \n", + " \n", + " An anomaly of the metaphysis of the distal femur (close to the knee).\n", + " definition of HP:0030299 (Abnormal distal femoral metaphysis morphology)\n", + " \n", + " \n", + " #Abnormality of wide portion of outermost thighbone #Distal femoral metaphyseal abnormality\n", + " definition of HP:0030299 (Abnormal distal femoral metaphysis morphology)\n", + " \n", + " \n", + " Macrocephaly at birth\n", + " definition of HP:0004488 (Macrocephaly at birth)\n", + " \n", + " \n", + " The presence of an abnormally large skull with onset at birth.\n", + " definition of HP:0004488 (Macrocephaly at birth)\n", + " \n", + " \n", + " #Big cranium present at birth #Big cranium present since birth #Big skull present at birth #Big skull present since birth #Congenital large cranium #Congenital large skull #Congenital macrocephaly #Head circumference large for gestational age #Large cranium present at birth #Large cranium present since birth #Large skull present at birth #Large skull present since birth\n", + " definition of HP:0004488 (Macrocephaly at birth)\n", + " \n", + " \n", + " Positive respiratory tract Bordetella pertussis nucleic acid test\n", + " definition of HP:6000962 (Positive respiratory tract Bordetella pertussis nucleic acid test)\n", + " \n", + " \n", + " Detection of Bordetella pertussis PCR nucleic acid in in nasopharyngeal secretions by a method such as polymerase chain reaction.\n", + " definition of HP:6000962 (Positive respiratory tract Bordetella pertussis nucleic acid test)\n", + " \n", + " \n", + " Diminished alpha-ketoglutarate dehydrogenase activity in cultured fibroblasts\n", + " definition of HP:6000830 (Diminished alpha-ketoglutarate dehydrogenase activity in cultured fibroblasts)\n", + " \n", + " \n", + " Concentration or activity of the alpha-ketoglutarate dehydrogenase complex as measured in cultured fibroblasts is below the limits of normal. This enzyme is a multienzyme complex consisting of 3 protein subunits, oxoglutarate dehydrogenase, also known as alpha-ketoglutarate dehydrogenase or E1k (EC 1.2.4.2.), dihydrolipoyl succinyltransferase (DLST, or E2k; 126063), and dihydrolipoyl dehydrogenase (DLD, or E3; 238331). The complex catalyzes a key reaction in the Krebs tricarboxylic acid cycle.\n", + " definition of HP:6000830 (Diminished alpha-ketoglutarate dehydrogenase activity in cultured fibroblasts)\n", + " \n", + " \n", + " Elevated circulating transferrin concentration\n", + " definition of HP:0032386 (Elevated circulating transferrin concentration)\n", + " \n", + " \n", + " An abnormally increased concentration of transferrin in the blood circulation.\n", + " definition of HP:0032386 (Elevated circulating transferrin concentration)\n", + " \n", + " \n", + " #Elevated transferrin level\n", + " definition of HP:0032386 (Elevated circulating transferrin concentration)\n", + " \n", + " \n", + " Impaired calcium ionophore-induced platelet aggregation\n", + " definition of HP:0031130 (Impaired calcium ionophore-induced platelet aggregation)\n", + " \n", + " \n", + " Abnormal response to calcium Ionophore (such as A23187) as manifested by reduced or lacking aggregation of platelets upon addition of the ionophore.\n", + " definition of HP:0031130 (Impaired calcium ionophore-induced platelet aggregation)\n", + " \n", + " \n", + " #Impaired Ca ionophore-induced platelet aggregation #Impaired Ca2+ ionophore-induced platelet aggregation\n", + " definition of HP:0031130 (Impaired calcium ionophore-induced platelet aggregation)\n", + " \n", + " \n", + " Visceral hallucination\n", + " definition of HP:5200215 (Visceral hallucination)\n", + " \n", + " \n", + " A type of hallucination that involves the perception of internal bodily sensations or processes that do not actually exist.\n", + " definition of HP:5200215 (Visceral hallucination)\n", + " \n", + " \n", + " Anemia due to reduced life span of red cells\n", + " definition of HP:0011895 (Anemia due to reduced life span of red cells)\n", + " \n", + " \n", + " A type of anemia related to a reduction in the average life span of red blood cells in the peripheral circulation, which is normally around 120 days.\n", + " definition of HP:0011895 (Anemia due to reduced life span of red cells)\n", + " \n", + " \n", + " #Anaemia due to reduced life span of red cells\n", + " definition of HP:0011895 (Anemia due to reduced life span of red cells)\n", + " \n", + " \n", + " Astigmatism\n", + " definition of HP:0000483 (Astigmatism)\n", + " \n", + " \n", + " A type of refraction error associated with abnormal curvatures on the anterior and/or posterior surface of the cornea.\n", + " definition of HP:0000483 (Astigmatism)\n", + " \n", + " \n", + " #Abnormal curving of the cornea or lens of the eye #Astigmatism\n", + " definition of HP:0000483 (Astigmatism)\n", + " \n", + " \n", + " Myocarditis\n", + " definition of HP:0012819 (Myocarditis)\n", + " \n", + " \n", + " Inflammation of the myocardium.\n", + " definition of HP:0012819 (Myocarditis)\n", + " \n", + " \n", + " #Inflammation of heart muscle\n", + " definition of HP:0012819 (Myocarditis)\n", + " \n", + " \n", + " Telangiectasia\n", + " definition of HP:0001009 (Telangiectasia)\n", + " \n", + " \n", + " Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips.\n", + " definition of HP:0001009 (Telangiectasia)\n", + " \n", + " \n", + " #Telangiectases\n", + " definition of HP:0001009 (Telangiectasia)\n", + " \n", + " \n", + " Nocturnal hypoventilation\n", + " definition of HP:0002877 (Nocturnal hypoventilation)\n", + " \n", + " \n", + " An abnormal reduction in alveolar ventilation occurring during sleep. This is characterized by a rise in arterial carbon dioxide.\n", + " definition of HP:0002877 (Nocturnal hypoventilation)\n", + " \n", + " \n", + " #Hypoventilation during sleep #Nocturnal hypopnea #Nocturnal slow breathing #Nocturnal under breathing\n", + " definition of HP:0002877 (Nocturnal hypoventilation)\n", + " \n", + " \n", + " Nihilistic delusion\n", + " definition of HP:5200421 (Nihilistic delusion)\n", + " \n", + " \n", + " A delusion that elements of the self, body, or world no longer exist. The person typically recognizes that the entity did in fact exist at one time, but has ceased to exist. The cause of which may be related to disease, decay, or may have been removed or taken by unknown forces.\n", + " definition of HP:5200421 (Nihilistic delusion)\n", + " \n", + " \n", + " Woolly scalp hair\n", + " definition of HP:0040149 (Woolly scalp hair)\n", + " \n", + " \n", + " The presence of wooly hair on the scalp. The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.\n", + " definition of HP:0040149 (Woolly scalp hair)\n", + " \n", + " \n", + " #Wooly scalp hair\n", + " definition of HP:0040149 (Woolly scalp hair)\n", + " \n", + " \n", + " Abnormal ischium morphology\n", + " definition of HP:0003174 (Abnormal ischium morphology)\n", + " \n", + " \n", + " An anomaly of the ischium, which forms the lower and back part of the hip bone.\n", + " definition of HP:0003174 (Abnormal ischium morphology)\n", + " \n", + " \n", + " #Abnormality of the ischial bones #Abnormality of the ischium #Anomaly of the ischium\n", + " definition of HP:0003174 (Abnormal ischium morphology)\n", + " \n", + " \n", + " Duplication of the proximal phalanx of the 5th toe\n", + " definition of HP:0100406 (Duplication of the proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " Partial or complete duplication of the proximal phalanx of fifth toe.\n", + " definition of HP:0100406 (Duplication of the proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " #Duplication of the innermost bone of the little toe #Duplication of the innermost bone of the pinkie toe #Duplication of the innermost bone of the pinky toe #Duplication of the proximal phalanx of the fifth toe #Partial/complete duplication of the proximal phalanx of the 5th toe\n", + " definition of HP:0100406 (Duplication of the proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " Absent radius\n", + " definition of HP:0003974 (Absent radius)\n", + " \n", + " \n", + " Missing radius bone associated with congenital failure of development.\n", + " definition of HP:0003974 (Absent radius)\n", + " \n", + " \n", + " #absence of radius and ulna #Absent ossification/absence of radius #Aplasia of the radius #Missing outer large bone of forearm #Radial aplasia\n", + " definition of HP:0003974 (Absent radius)\n", + " \n", + " \n", + " Incomitant strabismus\n", + " definition of HP:0025068 (Incomitant strabismus)\n", + " \n", + " \n", + " Strabismus in which the angle of deviation differs depending upon the direction of gaze or according to which eye is fixing, associated with: (i) defective movement of the eye, (ii) asymmetrical accommodative effort.\n", + " definition of HP:0025068 (Incomitant strabismus)\n", + " \n", + " \n", + " Elevated alkaline phosphatase of renal origin\n", + " definition of HP:0010680 (Elevated alkaline phosphatase of renal origin)\n", + " \n", + " \n", + " An abnormally increased level of kidney isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.\n", + " definition of HP:0010680 (Elevated alkaline phosphatase of renal origin)\n", + " \n", + " \n", + " #Elevated ALP of renal origin\n", + " definition of HP:0010680 (Elevated alkaline phosphatase of renal origin)\n", + " \n", + " \n", + " Abnormal full-field electroretinogram\n", + " definition of HP:0030466 (Abnormal full-field electroretinogram)\n", + " \n", + " \n", + " Phantageusia\n", + " definition of HP:0033847 (Phantageusia)\n", + " \n", + " \n", + " A form of altered taste sensation in which the affected person perceives a taste, usually an unpleasant one, in the absence of a corresponding stimulus in the environment.\n", + " definition of HP:0033847 (Phantageusia)\n", + " \n", + " \n", + " #Phantom taste\n", + " definition of HP:0033847 (Phantageusia)\n", + " \n", + " \n", + " Pituitary macroadenoma\n", + " definition of HP:0025693 (Pituitary macroadenoma)\n", + " \n", + " \n", + " A pituitary gland adenoma that is larger than 10mm.\n", + " definition of HP:0025693 (Pituitary macroadenoma)\n", + " \n", + " \n", + " #Pituitary gland macroadenoma\n", + " definition of HP:0025693 (Pituitary macroadenoma)\n", + " \n", + " \n", + " Abnormal lymph-node tissue architecture\n", + " definition of HP:0020230 (Abnormal lymph-node tissue architecture)\n", + " \n", + " \n", + " Any phenotypic abnormality of the architecture of the tissue of a lymph node.\n", + " definition of HP:0020230 (Abnormal lymph-node tissue architecture)\n", + " \n", + " \n", + " Isosexual precocious puberty\n", + " definition of HP:0008236 (Isosexual precocious puberty)\n", + " \n", + " \n", + " Flared proximal tibial metaphysis\n", + " definition of HP:6000951 (Flared proximal tibial metaphysis)\n", + " \n", + " \n", + " The presence of a splayed (i.e.,flared) metaphyseal segment of the proximal tibia.\n", + " definition of HP:6000951 (Flared proximal tibial metaphysis)\n", + " \n", + " \n", + " Abnormal medullary peritubular capillary lumen morphology\n", + " definition of HP:0033868 (Abnormal medullary peritubular capillary lumen morphology)\n", + " \n", + " \n", + " Abnormal structural characteristics of the interior space of the peritubular capillary in the medulla of the kidney.\n", + " definition of HP:0033868 (Abnormal medullary peritubular capillary lumen morphology)\n", + " \n", + " \n", + " Subchondral fracture\n", + " definition of HP:6000287 (Subchondral fracture)\n", + " \n", + " \n", + " A type of fracture that occurs in the trabecular cancellous bone just beneath the subchondral bone plate without disruption of the articular surface.\n", + " definition of HP:6000287 (Subchondral fracture)\n", + " \n", + " \n", + " Flexion contracture of finger\n", + " definition of HP:0012785 (Flexion contracture of finger)\n", + " \n", + " \n", + " Chronic loss of joint motion in a finger due to structural changes in non-bony tissue.\n", + " definition of HP:0012785 (Flexion contracture of finger)\n", + " \n", + " \n", + " #Flexion deformity of finger\n", + " definition of HP:0012785 (Flexion contracture of finger)\n", + " \n", + " \n", + " Supraumbilical raphe\n", + " definition of HP:0410276 (Supraumbilical raphe)\n", + " \n", + " \n", + " An abnormality of the sternum that presents at birth as a ventral sternal non-union defect, due to an abnormality of the fusion of the layers of the skin. It presents as a scar-like line that extends upward from the umbilicus (belly button).\n", + " definition of HP:0410276 (Supraumbilical raphe)\n", + " \n", + " \n", + " #Midline supraumbilical raphe\n", + " definition of HP:0410276 (Supraumbilical raphe)\n", + " \n", + " \n", + " Chromhidrosis\n", + " definition of HP:0034426 (Chromhidrosis)\n", + " \n", + " \n", + " Secretion of colored sweat.\n", + " definition of HP:0034426 (Chromhidrosis)\n", + " \n", + " \n", + " Median pseudocleft lip\n", + " definition of HP:0034185 (Median pseudocleft lip)\n", + " \n", + " \n", + " A type of mild median cleft lip in which the central tubercle of the upper lip is replaced by a mucosal cleft in the midline.\n", + " definition of HP:0034185 (Median pseudocleft lip)\n", + " \n", + " \n", + " Ameliorated by ketogenic diet\n", + " definition of HP:0034516 (Ameliorated by ketogenic diet)\n", + " \n", + " \n", + " Applies to a sign or symptom that is improved or made more bearable by following a ketogenic diet.\n", + " definition of HP:0034516 (Ameliorated by ketogenic diet)\n", + " \n", + " \n", + " #Ketogenic diet improves symptoms\n", + " definition of HP:0034516 (Ameliorated by ketogenic diet)\n", + " \n", + " \n", + " Chorioretinal hyperpigmentation\n", + " definition of HP:0040031 (Chorioretinal hyperpigmentation)\n", + " \n", + " \n", + " Cystic renal dysplasia\n", + " definition of HP:0000800 (Cystic renal dysplasia)\n", + " \n", + " \n", + " #Bilateral cystic dysplasia #Renal cystic dysplasia #Renal dysplasia, cystic\n", + " definition of HP:0000800 (Cystic renal dysplasia)\n", + " \n", + " \n", + " Brain neoplasm\n", + " definition of HP:0030692 (Brain neoplasm)\n", + " \n", + " \n", + " A benign or malignant neoplasm that arises from or metastasizes to the brain.\n", + " definition of HP:0030692 (Brain neoplasm)\n", + " \n", + " \n", + " #Brain tumor #Brain tumour\n", + " definition of HP:0030692 (Brain neoplasm)\n", + " \n", + " \n", + " Drowsiness\n", + " definition of HP:0002329 (Drowsiness)\n", + " \n", + " \n", + " Abnormal feeling of sleepiness or difficulty staying awake.\n", + " definition of HP:0002329 (Drowsiness)\n", + " \n", + " \n", + " #Abnormal drowsiness #Drowsiness #Sleepiness #Sleepy #Somnolence\n", + " definition of HP:0002329 (Drowsiness)\n", + " \n", + " \n", + " Ureteral duplication\n", + " definition of HP:0000073 (Ureteral duplication)\n", + " \n", + " \n", + " A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder.\n", + " definition of HP:0000073 (Ureteral duplication)\n", + " \n", + " \n", + " #Double ureter\n", + " definition of HP:0000073 (Ureteral duplication)\n", + " \n", + " \n", + " Abnormal mandibular ramus morphology\n", + " definition of HP:3000003 (Abnormal mandibular ramus morphology)\n", + " \n", + " \n", + " An abnormality of a mandibular ramus.\n", + " definition of HP:3000003 (Abnormal mandibular ramus morphology)\n", + " \n", + " \n", + " #Abnormality of mandibular ramus\n", + " definition of HP:3000003 (Abnormal mandibular ramus morphology)\n", + " \n", + " \n", + " Allodynia\n", + " definition of HP:0012533 (Allodynia)\n", + " \n", + " \n", + " Pain due to a stimulus that does not normally provoke pain.\n", + " definition of HP:0012533 (Allodynia)\n", + " \n", + " \n", + " Sparse pubic hair\n", + " definition of HP:0002225 (Sparse pubic hair)\n", + " \n", + " \n", + " Reduced number or density of pubic hair.\n", + " definition of HP:0002225 (Sparse pubic hair)\n", + " \n", + " \n", + " #Decreased sexual hair #Sparse pubic hair #sparse to absent pubic hair\n", + " definition of HP:0002225 (Sparse pubic hair)\n", + " \n", + " \n", + " Cleft maxillary alveolar ridge\n", + " definition of HP:0010289 (Cleft maxillary alveolar ridge)\n", + " \n", + " \n", + " A gap (cleft) affecting one of the alveolar ridges, which are the protuberances in the mouth that contain the sockets (alveoli) of the teeth. An alveolar cleft can affect all structures of the alveolar ridge, including the gingiva, other mucosa, periosteum, alveolar bone, and teeth. Alveolar cleft occurs in response to divergence from normal development during frontonasal prominence growth, contact, and fusion. The most common alveolar portion of the cleft is located between the lateral incisor and the canine.\n", + " definition of HP:0010289 (Cleft maxillary alveolar ridge)\n", + " \n", + " \n", + " #Alveolar cleft #Alveolar ridge cleft #Cleft anterior maxilla #Cleft maxillary alveolus #Cleft of alveolar ridge of maxilla #Cleft of gum ridge #Notch of alveolar ridge #Notch of gum ridge\n", + " definition of HP:0010289 (Cleft maxillary alveolar ridge)\n", + " \n", + " \n", + " Increased urinary disaccharide excretion\n", + " definition of HP:0012066 (Increased urinary disaccharide excretion)\n", + " \n", + " \n", + " Increased concentration of disaccharide in the urine.\n", + " definition of HP:0012066 (Increased urinary disaccharide excretion)\n", + " \n", + " \n", + " Reduced attention regulation\n", + " definition of HP:5200044 (Reduced attention regulation)\n", + " \n", + " \n", + " An abnormality in one's ability to control their attention towards a specific subject or task can include difficulties in changing or maintaining attention.\n", + " definition of HP:5200044 (Reduced attention regulation)\n", + " \n", + " \n", + " Abnormal vas deferens morphology\n", + " definition of HP:0012872 (Abnormal vas deferens morphology)\n", + " \n", + " \n", + " A structural anomaly of the secretory duct of the testicle that carries spermatozoa from the epididymis to the prostatic urethra where it terminates to form ejaculatory duct.\n", + " definition of HP:0012872 (Abnormal vas deferens morphology)\n", + " \n", + " \n", + " Xanthelasma\n", + " definition of HP:0001114 (Xanthelasma)\n", + " \n", + " \n", + " The presence of xanthomata in the skin of the eyelid.\n", + " definition of HP:0001114 (Xanthelasma)\n", + " \n", + " \n", + " #Fatty deposits in skin around the eyes #Fatty deposits on eyelids #Xanthelasma palpebrarum #Xanthoma\n", + " definition of HP:0001114 (Xanthelasma)\n", + " \n", + " \n", + " Pulmonary nodule\n", + " definition of HP:0033608 (Pulmonary nodule)\n", + " \n", + " \n", + " Focal rounded or ovoid opacity, not more than 3 cm in diameter. Pulmonary nodules are typically observed by chest radiography or computer tomography imaging.\n", + " definition of HP:0033608 (Pulmonary nodule)\n", + " \n", + " \n", + " #Spot on the lung\n", + " definition of HP:0033608 (Pulmonary nodule)\n", + " \n", + " \n", + " Thumb contracture\n", + " definition of HP:0009600 (Thumb contracture)\n", + " \n", + " \n", + " Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the thumb joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin. The term camptodactyly is used if the distal and/or proximal interphalangeal joints are affected.\n", + " definition of HP:0009600 (Thumb contracture)\n", + " \n", + " \n", + " #Contracture of thumb #Flexion deformities of thumbs #Joint contractures of the thumb #Thumb joint contracture\n", + " definition of HP:0009600 (Thumb contracture)\n", + " \n", + " \n", + " Dysuria\n", + " definition of HP:0100518 (Dysuria)\n", + " \n", + " \n", + " Painful or difficult urination.\n", + " definition of HP:0100518 (Dysuria)\n", + " \n", + " \n", + " #Painful or difficult urination\n", + " definition of HP:0100518 (Dysuria)\n", + " \n", + " \n", + " Self-cutting\n", + " definition of HP:5200339 (Self-cutting)\n", + " \n", + " \n", + " Deliberate harm to one's body, in the form of cutting that results in tissue damage, without a conscious intent to die.\n", + " definition of HP:5200339 (Self-cutting)\n", + " \n", + " \n", + " #Cutting #Deliberate cutting of skin #Self cutting\n", + " definition of HP:5200339 (Self-cutting)\n", + " \n", + " \n", + " Reduced proportion of CD4+ effector memory T cells\n", + " definition of HP:0025624 (Reduced proportion of CD4+ effector memory T cells)\n", + " \n", + " \n", + " An abnormally decreased proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells have the phenotype CD3-positive, CD4-positive, CD62L-negative, CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.\n", + " definition of HP:0025624 (Reduced proportion of CD4+ effector memory T cells)\n", + " \n", + " \n", + " #Decreased proportion of CD4+ effector memory T cells #Decreased proportion of CD4-positive effector memory T cells #Decreased proportion of effector memory CD4-positive, alpha-beta T cells\n", + " definition of HP:0025624 (Reduced proportion of CD4+ effector memory T cells)\n", + " \n", + " \n", + " Elevated urinary collagen degradation products\n", + " definition of HP:0033384 (Elevated urinary collagen degradation products)\n", + " \n", + " \n", + " Increased level in the urine of a metabolite that results from collagen degradation, e.g., a fragment of a collagen produced by a collagenase or serine protease.\n", + " definition of HP:0033384 (Elevated urinary collagen degradation products)\n", + " \n", + " \n", + " Patchy variation in bone mineral density\n", + " definition of HP:0010659 (Patchy variation in bone mineral density)\n", + " \n", + " \n", + " Patchy (irregular) changes in bone mineral density with patches of bone showing an increased density side to side with patches that are affected by reduction of mineral density. This is sometimes referred to as a moth-eaten appearance on x-rays.\n", + " definition of HP:0010659 (Patchy variation in bone mineral density)\n", + " \n", + " \n", + " #Patchy increased and decreased bone mineral density\n", + " definition of HP:0010659 (Patchy variation in bone mineral density)\n", + " \n", + " \n", + " Anti-bicaudal D2 antibody positivity\n", + " definition of HP:0034082 (Anti-bicaudal D2 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against bicaudal D2.\n", + " definition of HP:0034082 (Anti-bicaudal D2 antibody positivity)\n", + " \n", + " \n", + " #Anti-BICD2 antibody positivity\n", + " definition of HP:0034082 (Anti-bicaudal D2 antibody positivity)\n", + " \n", + " \n", + " Subluxation of the proximal interphalangeal joint of the little finger\n", + " definition of HP:0004230 (Subluxation of the proximal interphalangeal joint of the little finger)\n", + " \n", + " \n", + " A partial dislocation of the proximal interphalangeal joint of the little finger.\n", + " definition of HP:0004230 (Subluxation of the proximal interphalangeal joint of the little finger)\n", + " \n", + " \n", + " #Partially dislocated innermost hinge joint of little finger #Partially dislocated innermost hinge joint of pinkie finger #Partially dislocated innermost hinge joint of pinky finger\n", + " definition of HP:0004230 (Subluxation of the proximal interphalangeal joint of the little finger)\n", + " \n", + " \n", + " Triangular tongue\n", + " definition of HP:0030284 (Triangular tongue)\n", + " \n", + " \n", + " A form of macrogloassia (increased size of the tongue) characterized by a broad based root of the tongue but a small tongue tip, giving the appearance of a triangle.\n", + " definition of HP:0030284 (Triangular tongue)\n", + " \n", + " \n", + " #Triangle shaped tongue #Triangular tongue\n", + " definition of HP:0030284 (Triangular tongue)\n", + " \n", + " \n", + " Generalized amyotrophy\n", + " definition of HP:0003700 (Generalized amyotrophy)\n", + " \n", + " \n", + " Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles.\n", + " definition of HP:0003700 (Generalized amyotrophy)\n", + " \n", + " \n", + " #Diffuse amyotrophy #Diffuse muscle atrophy #Diffuse muscle wasting #Diffuse skeletal muscle wasting #Generalised amyotrophy #Generalised muscle atrophy #Generalised muscle degeneration #Generalized muscle atrophy #Generalized muscle degeneration #Muscle atrophy, diffuse #Muscle atrophy, generalised #Muscle atrophy, generalized #Muscular atrophy, generalised #Muscular atrophy, generalized\n", + " definition of HP:0003700 (Generalized amyotrophy)\n", + " \n", + " \n", + " Anti-neurochondrin antibody positivity\n", + " definition of HP:6000880 (Anti-neurochondrin antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies in the serum that react against neurochondrin .\n", + " definition of HP:6000880 (Anti-neurochondrin antibody positivity)\n", + " \n", + " \n", + " Negativism\n", + " definition of HP:0410291 (Negativism)\n", + " \n", + " \n", + " Opposing or not responding to instructions or external stimuli.\n", + " definition of HP:0410291 (Negativism)\n", + " \n", + " \n", + " Sterile arthritis\n", + " definition of HP:0040310 (Sterile arthritis)\n", + " \n", + " \n", + " An inflammatory arthritis characterized by purulent synovial fluid with neutrophil accumulation, but with negative cultures.\n", + " definition of HP:0040310 (Sterile arthritis)\n", + " \n", + " \n", + " Fibular deviation of the 3rd toe\n", + " definition of HP:0100342 (Fibular deviation of the 3rd toe)\n", + " \n", + " \n", + " Elevated circulating vitamin B6 concentration\n", + " definition of HP:0032477 (Elevated circulating vitamin B6 concentration)\n", + " \n", + " \n", + " An abnormally increased concentration of vitamin B6 in the blood circulation.\n", + " definition of HP:0032477 (Elevated circulating vitamin B6 concentration)\n", + " \n", + " \n", + " #Elevated circulating vitamin B6 level\n", + " definition of HP:0032477 (Elevated circulating vitamin B6 concentration)\n", + " \n", + " \n", + " Osteoarthritis of the first carpometacarpal joint\n", + " definition of HP:0006226 (Osteoarthritis of the first carpometacarpal joint)\n", + " \n", + " \n", + " Abnormal HDL2b concentration\n", + " definition of HP:0032422 (Abnormal HDL2b concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm.\n", + " definition of HP:0032422 (Abnormal HDL2b concentration)\n", + " \n", + " \n", + " Blue nevus\n", + " definition of HP:0100814 (Blue nevus)\n", + " \n", + " \n", + " A solitary, bluish, smooth surfaced macule, papule or plaque that is generally round or oval in shape. The histopathology of blue nevi varies by subtype, but general characteristics include a vertical wedge or bulbous shaped proliferation of spindle cells, dendritic melanocytes, and melanophages into a sclerotic dermis or subcutis.\n", + " definition of HP:0100814 (Blue nevus)\n", + " \n", + " \n", + " Reduced tissue peptidase D activity\n", + " definition of HP:6000828 (Reduced tissue peptidase D activity)\n", + " \n", + " \n", + " Concentration or activity of Peptidase D (EC 3.4.13.9; also known as prolidase, imidodipeptidase, proline dipeptidase, and aminoacyl-L-proline hydrolase) below the lower limit of normal. The activity of this enzyme can be measured in erythrocytes, leukocytes, or fibroblasts.\n", + " definition of HP:6000828 (Reduced tissue peptidase D activity)\n", + " \n", + " \n", + " #Reduced tissue prolidase activity\n", + " definition of HP:6000828 (Reduced tissue peptidase D activity)\n", + " \n", + " \n", + " Focal cognitive seizure with anomia\n", + " definition of HP:0032701 (Focal cognitive seizure with anomia)\n", + " \n", + " \n", + " A focal cognitive seizure characterized by anomia as the initial semiological manifestation.\n", + " definition of HP:0032701 (Focal cognitive seizure with anomia)\n", + " \n", + " \n", + " Substantially elevated circulating ethanol concentration\n", + " definition of HP:6000986 (Substantially elevated circulating ethanol concentration)\n", + " \n", + " \n", + " A blood concentration of ethanol that is consistent with alcohol intoxication, generally assumed to be 0.0800 g/dL or higher.\n", + " definition of HP:6000986 (Substantially elevated circulating ethanol concentration)\n", + " \n", + " \n", + " Abnormality of masticatory muscle\n", + " definition of HP:0410011 (Abnormality of masticatory muscle)\n", + " \n", + " \n", + " Any abnormality of the masticatory muscle.\n", + " definition of HP:0410011 (Abnormality of masticatory muscle)\n", + " \n", + " \n", + " #Abnormality of muscles of mastication\n", + " definition of HP:0410011 (Abnormality of masticatory muscle)\n", + " \n", + " \n", + " Abnormally ossified vertebrae\n", + " definition of HP:0100569 (Abnormally ossified vertebrae)\n", + " \n", + " \n", + " An abnormality of the formation and mineralization of one or more vertebrae.\n", + " definition of HP:0100569 (Abnormally ossified vertebrae)\n", + " \n", + " \n", + " #Abnormal bone maturation of vertebra #Abnormal vertebral ossification #Abnormality of ossification/mineralisation of vertebrae\n", + " definition of HP:0100569 (Abnormally ossified vertebrae)\n", + " \n", + " \n", + " Hypertrophy of the lower limb\n", + " definition of HP:0010496 (Hypertrophy of the lower limb)\n", + " \n", + " \n", + " Abnormal increase in size of the lower limbs (due to an increase of the size of cells).\n", + " definition of HP:0010496 (Hypertrophy of the lower limb)\n", + " \n", + " \n", + " Hyperthreoninemia\n", + " definition of HP:0003354 (Hyperthreoninemia)\n", + " \n", + " \n", + " An increased concentration of threonine in the blood.\n", + " definition of HP:0003354 (Hyperthreoninemia)\n", + " \n", + " \n", + " #Elevated circulating threonine #High blood threonine levels\n", + " definition of HP:0003354 (Hyperthreoninemia)\n", + " \n", + " \n", + " Abnormal zygomatic bone morphology\n", + " definition of HP:0010668 (Abnormal zygomatic bone morphology)\n", + " \n", + " \n", + " An abnormality of the zygomatic bone.\n", + " definition of HP:0010668 (Abnormal zygomatic bone morphology)\n", + " \n", + " \n", + " #Abnormal malar bone morphology #Abnormality of the cheekbone #Abnormality of the zygomatic bone\n", + " definition of HP:0010668 (Abnormal zygomatic bone morphology)\n", + " \n", + " \n", + " Agenesis of primary maxillary central incisor\n", + " definition of HP:0011046 (Agenesis of primary maxillary central incisor)\n", + " \n", + " \n", + " Agenesis of upper central primary incisor.\n", + " definition of HP:0011046 (Agenesis of primary maxillary central incisor)\n", + " \n", + " \n", + " #Agenesis of deciduous maxillary central incisor #Failure of development of deciduous maxillary central incisor #Failure of development of primary maxillary central incisor\n", + " definition of HP:0011046 (Agenesis of primary maxillary central incisor)\n", + " \n", + " \n", + " Ambiguous genitalia, male\n", + " definition of HP:0000033 (Ambiguous genitalia, male)\n", + " \n", + " \n", + " Ambiguous genitalia in an individual with XY genetic gender.\n", + " definition of HP:0000033 (Ambiguous genitalia, male)\n", + " \n", + " \n", + " #Ambiguous genitalia in males\n", + " definition of HP:0000033 (Ambiguous genitalia, male)\n", + " \n", + " \n", + " Helicobacter pylori infection\n", + " definition of HP:0005202 (Helicobacter pylori infection)\n", + " \n", + " \n", + " A recurrent infection of the GI tract with helicobacter pylori, a gram-negative, microaerophilic bacterium usually found in the stomach.\n", + " definition of HP:0005202 (Helicobacter pylori infection)\n", + " \n", + " \n", + " Biliary hyperplasia\n", + " definition of HP:0006560 (Biliary hyperplasia)\n", + " \n", + " \n", + " Hyperplasia of the biliary tree, as manifested by increased size of bile ducts, dilated lumen, and histologically by an increased number of epithelial cells or hyperplasia.\n", + " definition of HP:0006560 (Biliary hyperplasia)\n", + " \n", + " \n", + " #Bile duct hyperplasia\n", + " definition of HP:0006560 (Biliary hyperplasia)\n", + " \n", + " \n", + " Thick corpus callosum\n", + " definition of HP:0007074 (Thick corpus callosum)\n", + " \n", + " \n", + " Increased vertical dimension of the corpus callosum. This feature can be visualized by sagittal sections on magnetic resonance tomography imaging of the brain.\n", + " definition of HP:0007074 (Thick corpus callosum)\n", + " \n", + " \n", + " #Abnormal size of corpus callosum #Large corpus callosum\n", + " definition of HP:0007074 (Thick corpus callosum)\n", + " \n", + " \n", + " Abnormal choanae morphology\n", + " definition of HP:0000415 (Abnormal choanae morphology)\n", + " \n", + " \n", + " Abnormality of the choanae (the posterior nasal apertures).\n", + " definition of HP:0000415 (Abnormal choanae morphology)\n", + " \n", + " \n", + " #Abnormality of the choanae\n", + " definition of HP:0000415 (Abnormal choanae morphology)\n", + " \n", + " \n", + " Renal arteriole intima/media coagulative necrosis\n", + " definition of HP:0033940 (Renal arteriole intima/media coagulative necrosis)\n", + " \n", + " \n", + " A type of renal arteriole intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures.\n", + " definition of HP:0033940 (Renal arteriole intima/media coagulative necrosis)\n", + " \n", + " \n", + " Generalized osteosclerosis\n", + " definition of HP:0005789 (Generalized osteosclerosis)\n", + " \n", + " \n", + " An abnormal increase of bone mineral density with generalized involvement of the skeleton.\n", + " definition of HP:0005789 (Generalized osteosclerosis)\n", + " \n", + " \n", + " #Diffuse, symmetrical osteosclerosis #Generalised osteosclerosis #Osteosclerosis, diffuse symmetrical\n", + " definition of HP:0005789 (Generalized osteosclerosis)\n", + " \n", + " \n", + " Abnormal second toe morphology\n", + " definition of HP:0010319 (Abnormal second toe morphology)\n", + " \n", + " \n", + " An anomaly of the second toe.\n", + " definition of HP:0010319 (Abnormal second toe morphology)\n", + " \n", + " \n", + " #Abnormal 2nd toe morphology #Abnormality of the 2nd toe\n", + " definition of HP:0010319 (Abnormal second toe morphology)\n", + " \n", + " \n", + " Abnormal circle of Willis morphology\n", + " definition of HP:0012518 (Abnormal circle of Willis morphology)\n", + " \n", + " \n", + " An anomaly of the circle of Willis, also known as the cerebral arterial circle.\n", + " definition of HP:0012518 (Abnormal circle of Willis morphology)\n", + " \n", + " \n", + " #Abnormality of the cerebral arterial circle\n", + " definition of HP:0012518 (Abnormal circle of Willis morphology)\n", + " \n", + " \n", + " Abnormal fingernail morphology\n", + " definition of HP:0001231 (Abnormal fingernail morphology)\n", + " \n", + " \n", + " An abnormality of the fingernails.\n", + " definition of HP:0001231 (Abnormal fingernail morphology)\n", + " \n", + " \n", + " #Abnormal fingernails #Abnormality of the fingernails\n", + " definition of HP:0001231 (Abnormal fingernail morphology)\n", + " \n", + " \n", + " Cerebral dysmyelination\n", + " definition of HP:0007266 (Cerebral dysmyelination)\n", + " \n", + " \n", + " Defective structure and function of myelin sheaths of the white matter of the brain.\n", + " definition of HP:0007266 (Cerebral dysmyelination)\n", + " \n", + " \n", + " #Areas of dysmyelination on MRI #Dysmyelination of the brain\n", + " definition of HP:0007266 (Cerebral dysmyelination)\n", + " \n", + " \n", + " Abnormality of radial epiphyses\n", + " definition of HP:0003999 (Abnormality of radial epiphyses)\n", + " \n", + " \n", + " #Abnormality of radial epiphyseal plates\n", + " definition of HP:0003999 (Abnormality of radial epiphyses)\n", + " \n", + " \n", + " Brachydactyly\n", + " definition of HP:0001156 (Brachydactyly)\n", + " \n", + " \n", + " Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.\n", + " definition of HP:0001156 (Brachydactyly)\n", + " \n", + " \n", + " #Brachydactyly syndrome #Short fingers or toes\n", + " definition of HP:0001156 (Brachydactyly)\n", + " \n", + " \n", + " Abnormality of the nose\n", + " definition of HP:0000366 (Abnormality of the nose)\n", + " \n", + " \n", + " An abnormality of the nose.\n", + " definition of HP:0000366 (Abnormality of the nose)\n", + " \n", + " \n", + " #Abnormality of the nose #Anomaly of the nose #Nasal abnormality #Nasal anomaly\n", + " definition of HP:0000366 (Abnormality of the nose)\n", + " \n", + " \n", + " Decreased thalamic volume\n", + " definition of HP:0012695 (Decreased thalamic volume)\n", + " \n", + " \n", + " A reduction in the quantity of space occupied by the thalamus.\n", + " definition of HP:0012695 (Decreased thalamic volume)\n", + " \n", + " \n", + " Cervical spine hypermobility\n", + " definition of HP:0003318 (Cervical spine hypermobility)\n", + " \n", + " \n", + " #Cervical spine joint hypermobility\n", + " definition of HP:0003318 (Cervical spine hypermobility)\n", + " \n", + " \n", + " Fixed splitting of the second heart sound\n", + " definition of HP:0031662 (Fixed splitting of the second heart sound)\n", + " \n", + " \n", + " Lack of variation in the splitting between the two components of the second heart sound with respiration. Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration.\n", + " definition of HP:0031662 (Fixed splitting of the second heart sound)\n", + " \n", + " \n", + " #Fixed splitting of S2\n", + " definition of HP:0031662 (Fixed splitting of the second heart sound)\n", + " \n", + " \n", + " Irregular iliac crest\n", + " definition of HP:0003796 (Irregular iliac crest)\n", + " \n", + " \n", + " Irregularity of the iliac crest, which is the superior border of the wing of the ilium.\n", + " definition of HP:0003796 (Irregular iliac crest)\n", + " \n", + " \n", + " Increased extraneuronal autofluorescent lipopigment\n", + " definition of HP:0003463 (Increased extraneuronal autofluorescent lipopigment)\n", + " \n", + " \n", + " Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the extraneuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.\n", + " definition of HP:0003463 (Increased extraneuronal autofluorescent lipopigment)\n", + " \n", + " \n", + " Absent forearm bone\n", + " definition of HP:0003953 (Absent forearm bone)\n", + " \n", + " \n", + " Absence of one or more forearm bones associated with congenital failure of development.\n", + " definition of HP:0003953 (Absent forearm bone)\n", + " \n", + " \n", + " #Absent forearm bone #Aplasia of the forearm bones\n", + " definition of HP:0003953 (Absent forearm bone)\n", + " \n", + " \n", + " Spinal cord lesion\n", + " definition of HP:0100561 (Spinal cord lesion)\n", + " \n", + " \n", + " Fetal onset\n", + " definition of HP:0011461 (Fetal onset)\n", + " \n", + " \n", + " Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks).\n", + " definition of HP:0011461 (Fetal onset)\n", + " \n", + " \n", + " #Foetal onset\n", + " definition of HP:0011461 (Fetal onset)\n", + " \n", + " \n", + " 2:1 atrioventricular block\n", + " definition of HP:0034305 (2:1 atrioventricular block)\n", + " \n", + " \n", + " A type of second-degree atrioventricular block in which every other P wave is not conducted through the AV node such that only every other P wave is followed by a QRS complex.\n", + " definition of HP:0034305 (2:1 atrioventricular block)\n", + " \n", + " \n", + " #2:1 AV block\n", + " definition of HP:0034305 (2:1 atrioventricular block)\n", + " \n", + " \n", + " Abnormal onset of bleeding\n", + " definition of HP:0040231 (Abnormal onset of bleeding)\n", + " \n", + " \n", + " Pseudoepiphysis of the 5th metacarpal\n", + " definition of HP:0010227 (Pseudoepiphysis of the 5th metacarpal)\n", + " \n", + " \n", + " The normal epiphysis of the fifth metacarpal is localized at the distal end of the metacarpal bone. This term applies if an accessory epiphysis, located at the proximal end of the metacarpal bone, is present.\n", + " definition of HP:0010227 (Pseudoepiphysis of the 5th metacarpal)\n", + " \n", + " \n", + " Fractured orbit of skull\n", + " definition of HP:0041156 (Fractured orbit of skull)\n", + " \n", + " \n", + " A partial or complete breakage of the orbit of skull.\n", + " definition of HP:0041156 (Fractured orbit of skull)\n", + " \n", + " \n", + " #bone orbit of skull\n", + " definition of HP:0041156 (Fractured orbit of skull)\n", + " \n", + " \n", + " Saccadic oscillation\n", + " definition of HP:0032104 (Saccadic oscillation)\n", + " \n", + " \n", + " An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by an immediate corrective saccade.\n", + " definition of HP:0032104 (Saccadic oscillation)\n", + " \n", + " \n", + " #Saccadic oscillations\n", + " definition of HP:0032104 (Saccadic oscillation)\n", + " \n", + " \n", + " Gastric adenocarcinoma\n", + " definition of HP:0033770 (Gastric adenocarcinoma)\n", + " \n", + " \n", + " An adenocarcinoma arising from the stomach glandular epithelium. Gastric carcinoma often produces no specific symptoms when it is superficial and potentially surgically curable, although up to 50% of patients may have nonspecific gastrointestinal complaints such as dyspepsia.\n", + " definition of HP:0033770 (Gastric adenocarcinoma)\n", + " \n", + " \n", + " Retinal perforation\n", + " definition of HP:0011958 (Retinal perforation)\n", + " \n", + " \n", + " A small hole through the whole thickness of the retina.\n", + " definition of HP:0011958 (Retinal perforation)\n", + " \n", + " \n", + " #Retinal tear #Torn retina\n", + " definition of HP:0011958 (Retinal perforation)\n", + " \n", + " \n", + " Pendulous urethral stricture\n", + " definition of HP:0025414 (Pendulous urethral stricture)\n", + " \n", + " \n", + " A type of urethral stricture affecting the pendulous urethra, which is straight and fixed to the corpora cavernosa.\n", + " definition of HP:0025414 (Pendulous urethral stricture)\n", + " \n", + " \n", + " Multifocal atrial tachycardia\n", + " definition of HP:0011701 (Multifocal atrial tachycardia)\n", + " \n", + " \n", + " Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic.\n", + " definition of HP:0011701 (Multifocal atrial tachycardia)\n", + " \n", + " \n", + " #Chaotic atrial tachycardia #Ectopic atrial tachycardia\n", + " definition of HP:0011701 (Multifocal atrial tachycardia)\n", + " \n", + " \n", + " Pruritus vulvae\n", + " definition of HP:0032004 (Pruritus vulvae)\n", + " \n", + " \n", + " A sensation of itching in the vulvar region.\n", + " definition of HP:0032004 (Pruritus vulvae)\n", + " \n", + " \n", + " Malalignment of the great toenail\n", + " definition of HP:0031282 (Malalignment of the great toenail)\n", + " \n", + " \n", + " A lateral deviation of the nail plate of the great toe along the longitudinal axis due to the lateral rotation of the nail matrix. The nail plate grows out in ridges.\n", + " definition of HP:0031282 (Malalignment of the great toenail)\n", + " \n", + " \n", + " Anti-ADAMTS13 antibody positivity\n", + " definition of HP:6000462 (Anti-ADAMTS13 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against A Disintegrin and Metalloprotease with ThromboSpondin type 1 repeats, member 13 (ADAMTS13).\n", + " definition of HP:6000462 (Anti-ADAMTS13 antibody positivity)\n", + " \n", + " \n", + " Bowed humerus\n", + " definition of HP:0003865 (Bowed humerus)\n", + " \n", + " \n", + " A bending or abnormal curvature of the humerus.\n", + " definition of HP:0003865 (Bowed humerus)\n", + " \n", + " \n", + " #Bowed long bone in upper arm #Bowing of the humerus #Humeral bowing\n", + " definition of HP:0003865 (Bowed humerus)\n", + " \n", + " \n", + " Diskitis\n", + " definition of HP:0025679 (Diskitis)\n", + " \n", + " \n", + " Inflammation of an intervertebral disk or disk space.\n", + " definition of HP:0025679 (Diskitis)\n", + " \n", + " \n", + " #Discitis\n", + " definition of HP:0025679 (Diskitis)\n", + " \n", + " \n", + " Fully accomodative esotropia\n", + " definition of HP:0031764 (Fully accomodative esotropia)\n", + " \n", + " \n", + " Esotropia in which normal binocular single vision is present for all distances when the hypermetropic refractive error is corrected. Esotropia is present for near and distance on accommodation without correction.\n", + " definition of HP:0031764 (Fully accomodative esotropia)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the mandible\n", + " definition of HP:0009118 (Aplasia/Hypoplasia of the mandible)\n", + " \n", + " \n", + " Absence or underdevelopment of the mandible.\n", + " definition of HP:0009118 (Aplasia/Hypoplasia of the mandible)\n", + " \n", + " \n", + " Retinopathy of prematurity stage 5a\n", + " definition of HP:0500057 (Retinopathy of prematurity stage 5a)\n", + " \n", + " \n", + " An open funnel detachment of the retina with generally traction in all four quadrants.\n", + " definition of HP:0500057 (Retinopathy of prematurity stage 5a)\n", + " \n", + " \n", + " #ROP stage 5a\n", + " definition of HP:0500057 (Retinopathy of prematurity stage 5a)\n", + " \n", + " \n", + " Increased spinal bone density\n", + " definition of HP:0004563 (Increased spinal bone density)\n", + " \n", + " \n", + " Increased bone density affecting the bones of the spine (vertebral column).\n", + " definition of HP:0004563 (Increased spinal bone density)\n", + " \n", + " \n", + " #Increased density of spinal bone #Ivory spinal bone\n", + " definition of HP:0004563 (Increased spinal bone density)\n", + " \n", + " \n", + " Broad phalanges of the 5th finger\n", + " definition of HP:0009374 (Broad phalanges of the 5th finger)\n", + " \n", + " \n", + " Increased width of the phalanges of the 5th finger.\n", + " definition of HP:0009374 (Broad phalanges of the 5th finger)\n", + " \n", + " \n", + " #Broad little finger bones #Broad pinkie finger bones #Broad pinky finger bones\n", + " definition of HP:0009374 (Broad phalanges of the 5th finger)\n", + " \n", + " \n", + " Distal upper limb muscle weakness\n", + " definition of HP:0008959 (Distal upper limb muscle weakness)\n", + " \n", + " \n", + " Reduced strength of the distal musculature of the arms.\n", + " definition of HP:0008959 (Distal upper limb muscle weakness)\n", + " \n", + " \n", + " Intestinal polyp\n", + " definition of HP:0005266 (Intestinal polyp)\n", + " \n", + " \n", + " A discrete abnormal tissue mass that protrudes into the lumen of the intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base.\n", + " definition of HP:0005266 (Intestinal polyp)\n", + " \n", + " \n", + " #Intestinal polyps\n", + " definition of HP:0005266 (Intestinal polyp)\n", + " \n", + " \n", + " Medium vessel vasculitis\n", + " definition of HP:6000658 (Medium vessel vasculitis)\n", + " \n", + " \n", + " A type of vasculitis (inflammation of blood vessel walls) that affects medium-sized blood vessels. By common usage, vasculitis predominantly refers to arterial disease. Medium-sized vasculitis is observed in diseases including polyarteritis nodosa, Kawasaki disease, and cutaneous polyarteritis nodosa.\n", + " definition of HP:6000658 (Medium vessel vasculitis)\n", + " \n", + " \n", + " #Medium-size-vessel vasculitis\n", + " definition of HP:6000658 (Medium vessel vasculitis)\n", + " \n", + " \n", + " Sparse upper eyelashes\n", + " definition of HP:0040050 (Sparse upper eyelashes)\n", + " \n", + " \n", + " #Hypotrichosis of upper eyelashes #Partial absence of upper eyelashes #Sparse upper eyelashes\n", + " definition of HP:0040050 (Sparse upper eyelashes)\n", + " \n", + " \n", + " Low maternal circulating chorionic gonadotropin concentration\n", + " definition of HP:0011434 (Low maternal circulating chorionic gonadotropin concentration)\n", + " \n", + " \n", + " An abnormally low concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age.\n", + " definition of HP:0011434 (Low maternal circulating chorionic gonadotropin concentration)\n", + " \n", + " \n", + " #Low maternal serum chorionic gonadotropin #Low maternal serum hCG\n", + " definition of HP:0011434 (Low maternal circulating chorionic gonadotropin concentration)\n", + " \n", + " \n", + " Atypical elliptocytosis\n", + " definition of HP:0004822 (Atypical elliptocytosis)\n", + " \n", + " \n", + " Cystathioninemia\n", + " definition of HP:0003286 (Cystathioninemia)\n", + " \n", + " \n", + " An increased concentration of cystathionine in the blood.\n", + " definition of HP:0003286 (Cystathioninemia)\n", + " \n", + " \n", + " #High blood cystathionine levels\n", + " definition of HP:0003286 (Cystathioninemia)\n", + " \n", + " \n", + " Abnormal position of hair whorl\n", + " definition of HP:0010814 (Abnormal position of hair whorl)\n", + " \n", + " \n", + " Hair growth from a single point on the scalp in any location other than lateral to the midline and close to the vertex of the skull.\n", + " definition of HP:0010814 (Abnormal position of hair whorl)\n", + " \n", + " \n", + " #Abnormal location of hair swirl #Abnormal position of hair whorl\n", + " definition of HP:0010814 (Abnormal position of hair whorl)\n", + " \n", + " \n", + " Metatarsus adductus\n", + " definition of HP:0001840 (Metatarsus adductus)\n", + " \n", + " \n", + " The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body.\n", + " definition of HP:0001840 (Metatarsus adductus)\n", + " \n", + " \n", + " #Forefoot varus #Front half of foot turns inward #Metatarsus adductovarsus #Metatarsus varus #Sickle foot #Sickled feet\n", + " definition of HP:0001840 (Metatarsus adductus)\n", + " \n", + " \n", + " Congenital goiter\n", + " definition of HP:0008251 (Congenital goiter)\n", + " \n", + " \n", + " An enlargement of the thyroid gland with congenital onset.\n", + " definition of HP:0008251 (Congenital goiter)\n", + " \n", + " \n", + " #Congenital goitre\n", + " definition of HP:0008251 (Congenital goiter)\n", + " \n", + " \n", + " Olfactory sensory seeking\n", + " definition of HP:5200064 (Olfactory sensory seeking)\n", + " \n", + " \n", + " Pursuit of specific scents, smells, or fragrances that is abnormal in intensity and/or frequency.\n", + " definition of HP:5200064 (Olfactory sensory seeking)\n", + " \n", + " \n", + " #Smell seeking\n", + " definition of HP:5200064 (Olfactory sensory seeking)\n", + " \n", + " \n", + " Knee flexion contracture\n", + " definition of HP:0006380 (Knee flexion contracture)\n", + " \n", + " \n", + " A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively.\n", + " definition of HP:0006380 (Knee flexion contracture)\n", + " \n", + " \n", + " #Flexion contracture of knees #Flexion contractures at both knees #Flexion contractures of knees #Flexion deformity of the knee #Knee flexion contractures #Knee flexion deformity\n", + " definition of HP:0006380 (Knee flexion contracture)\n", + " \n", + " \n", + " Abnormal circulating IgM concentration\n", + " definition of HP:0410243 (Abnormal circulating IgM concentration)\n", + " \n", + " \n", + " An abnormal deviation from normal levels of IgM immunoglobulin in blood.\n", + " definition of HP:0410243 (Abnormal circulating IgM concentration)\n", + " \n", + " \n", + " #Abnormal circulating IgM level #Abnormal IgM level in blood\n", + " definition of HP:0410243 (Abnormal circulating IgM concentration)\n", + " \n", + " \n", + " Muted facial expression\n", + " definition of HP:5200015 (Muted facial expression)\n", + " \n", + " \n", + " A tendency to produce facial expressions with decreased intensity or expressivity which appear muted or flat.\n", + " definition of HP:5200015 (Muted facial expression)\n", + " \n", + " \n", + " #Flat facial expression\n", + " definition of HP:5200015 (Muted facial expression)\n", + " \n", + " \n", + " Disseminated cutaneous warts\n", + " definition of HP:0032215 (Disseminated cutaneous warts)\n", + " \n", + " \n", + " Multiple skin warts located in multiple parts of the body, e.g., neck, trunks, and extremities.\n", + " definition of HP:0032215 (Disseminated cutaneous warts)\n", + " \n", + " \n", + " Cloudy urine\n", + " definition of HP:0031967 (Cloudy urine)\n", + " \n", + " \n", + " The appearance of the urine having visible material in suspension, i.e., appearing cloudy.\n", + " definition of HP:0031967 (Cloudy urine)\n", + " \n", + " \n", + " Balanced double aortic arch\n", + " definition of HP:0031562 (Balanced double aortic arch)\n", + " \n", + " \n", + " A type of double aortic arch in which the two branches are of equal size. In most cases of double aortic arch, the right aortic arch is larger and located higher than the left aortic arch.\n", + " definition of HP:0031562 (Balanced double aortic arch)\n", + " \n", + " \n", + " Chorioretinal lacunae\n", + " definition of HP:0007858 (Chorioretinal lacunae)\n", + " \n", + " \n", + " Punched out lesions in the pigmented layer of the retina.\n", + " definition of HP:0007858 (Chorioretinal lacunae)\n", + " \n", + " \n", + " Woolly hair\n", + " definition of HP:0002224 (Woolly hair)\n", + " \n", + " \n", + " The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.\n", + " definition of HP:0002224 (Woolly hair)\n", + " \n", + " \n", + " #Kinked hair #Wooly hair\n", + " definition of HP:0002224 (Woolly hair)\n", + " \n", + " \n", + " Mesomelic arm shortening\n", + " definition of HP:0005011 (Mesomelic arm shortening)\n", + " \n", + " \n", + " Shortening of the middle parts of the arm in relation to the upper and terminal segments.\n", + " definition of HP:0005011 (Mesomelic arm shortening)\n", + " \n", + " \n", + " #Mesomelia of the upper limbs #Upper limb brachymesomelia\n", + " definition of HP:0005011 (Mesomelic arm shortening)\n", + " \n", + " \n", + " Abnormality of intrinsic muscle of tongue\n", + " definition of HP:3000064 (Abnormality of intrinsic muscle of tongue)\n", + " \n", + " \n", + " An abnormality of an intrinsic muscle of tongue.\n", + " definition of HP:3000064 (Abnormality of intrinsic muscle of tongue)\n", + " \n", + " \n", + " #Abnormality of intrinsic lingual muscle\n", + " definition of HP:3000064 (Abnormality of intrinsic muscle of tongue)\n", + " \n", + " \n", + " Fragmentation of the epiphysis of the distal phalanx of the hallux\n", + " definition of HP:0010142 (Fragmentation of the epiphysis of the distal phalanx of the hallux)\n", + " \n", + " \n", + " #Fragmentation of the end part of the outermost bone of the big toe\n", + " definition of HP:0010142 (Fragmentation of the epiphysis of the distal phalanx of the hallux)\n", + " \n", + " \n", + " Lymphadenopathy\n", + " definition of HP:0002716 (Lymphadenopathy)\n", + " \n", + " \n", + " Enlargement (swelling) of a lymph node.\n", + " definition of HP:0002716 (Lymphadenopathy)\n", + " \n", + " \n", + " #Lymph node hyperplasia #Swollen lymph nodes\n", + " definition of HP:0002716 (Lymphadenopathy)\n", + " \n", + " \n", + " Increased urinary epithelial cell count\n", + " definition of HP:0032211 (Increased urinary epithelial cell count)\n", + " \n", + " \n", + " An increased number of epithelial cells per high-power field in urinanalysis.\n", + " definition of HP:0032211 (Increased urinary epithelial cell count)\n", + " \n", + " \n", + " Abnormal light-adapted flicker electroretinogram\n", + " definition of HP:0030473 (Abnormal light-adapted flicker electroretinogram)\n", + " \n", + " \n", + " #Abnormal light adapted flicker electroretinogram #Abnormal light-adapted 30Hz flicker electroretinogram #Abnormal light-adapted 30Hz flicker ERG #Abnormal light-adapted flicker ERG\n", + " definition of HP:0030473 (Abnormal light-adapted flicker electroretinogram)\n", + " \n", + " \n", + " Multiple pulmonary cysts\n", + " definition of HP:0005948 (Multiple pulmonary cysts)\n", + " \n", + " \n", + " The presence of multiple lung cysts.\n", + " definition of HP:0005948 (Multiple pulmonary cysts)\n", + " \n", + " \n", + " #Cystic lung disease #Multiple lung cysts\n", + " definition of HP:0005948 (Multiple pulmonary cysts)\n", + " \n", + " \n", + " Delayed early-childhood social milestone development\n", + " definition of HP:0012434 (Delayed early-childhood social milestone development)\n", + " \n", + " \n", + " A failure to meet one or more age-related milestones of social behavior.\n", + " definition of HP:0012434 (Delayed early-childhood social milestone development)\n", + " \n", + " \n", + " #Delayed milestone development #Delayed social development\n", + " definition of HP:0012434 (Delayed early-childhood social milestone development)\n", + " \n", + " \n", + " Pseudoepiphysis of the middle phalanx of the 2nd toe\n", + " definition of HP:0100118 (Pseudoepiphysis of the middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the middle phalanx of the second toe.\n", + " definition of HP:0100118 (Pseudoepiphysis of the middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " Mediastinal shift\n", + " definition of HP:6000012 (Mediastinal shift)\n", + " \n", + " \n", + " A deviation of the mediastinum from its normal position in the midline of the thoracic cavity. The mediastinum is a compartment of the thoracic cavity that contains the heart and its blood vessels, the esophagus, trachea, thymus, as well as nerves and lymph nodes.\n", + " definition of HP:6000012 (Mediastinal shift)\n", + " \n", + " \n", + " Pharyngitis\n", + " definition of HP:0025439 (Pharyngitis)\n", + " \n", + " \n", + " Inflammation (due to infection or irritation) of the pharynx.\n", + " definition of HP:0025439 (Pharyngitis)\n", + " \n", + " \n", + " Ivory epiphyses of the hallux\n", + " definition of HP:0010119 (Ivory epiphyses of the hallux)\n", + " \n", + " \n", + " #Increased bone density of end part of the big toe bone\n", + " definition of HP:0010119 (Ivory epiphyses of the hallux)\n", + " \n", + " \n", + " Stiff tongue\n", + " definition of HP:0031373 (Stiff tongue)\n", + " \n", + " \n", + " Increased rigidity and reduced mobility of the tongue.\n", + " definition of HP:0031373 (Stiff tongue)\n", + " \n", + " \n", + " #Tongue stiffness\n", + " definition of HP:0031373 (Stiff tongue)\n", + " \n", + " \n", + " Anti-platelet antigen antibody positivity\n", + " definition of HP:4000170 (Anti-platelet antigen antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against antigens present on the surface of thrombocytes such as the glycoproteins GPIIb/IIIa, GPIb/IX, and GPIa/IIa.\n", + " definition of HP:4000170 (Anti-platelet antigen antibody positivity)\n", + " \n", + " \n", + " #Antiplatelet antibodies present\n", + " definition of HP:4000170 (Anti-platelet antigen antibody positivity)\n", + " \n", + " \n", + " Renal tubular dysfunction\n", + " definition of HP:0000124 (Renal tubular dysfunction)\n", + " \n", + " \n", + " Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid.\n", + " definition of HP:0000124 (Renal tubular dysfunction)\n", + " \n", + " \n", + " #Abnormal function of filtrating structures in kidney #Renal tubular defect\n", + " definition of HP:0000124 (Renal tubular dysfunction)\n", + " \n", + " \n", + " Angiosarcoma\n", + " definition of HP:0200058 (Angiosarcoma)\n", + " \n", + " \n", + " Abnormal scrotal rugation\n", + " definition of HP:0012856 (Abnormal scrotal rugation)\n", + " \n", + " \n", + " Anomaly of the folded ridges (wrinkles) of skin of the scrotum.\n", + " definition of HP:0012856 (Abnormal scrotal rugation)\n", + " \n", + " \n", + " Reduced hair sulfur content\n", + " definition of HP:0034425 (Reduced hair sulfur content)\n", + " \n", + " \n", + " Abnormally low amount of sulfur in hair.\n", + " definition of HP:0034425 (Reduced hair sulfur content)\n", + " \n", + " \n", + " #Hair sulfur content reduced #Hair sulphur content reduced\n", + " definition of HP:0034425 (Reduced hair sulfur content)\n", + " \n", + " \n", + " Epididymitis\n", + " definition of HP:0000031 (Epididymitis)\n", + " \n", + " \n", + " The presence of inflammation of the epididymis.\n", + " definition of HP:0000031 (Epididymitis)\n", + " \n", + " \n", + " Slender humerus\n", + " definition of HP:0003882 (Slender humerus)\n", + " \n", + " \n", + " Reduction in diameter of the humerus.\n", + " definition of HP:0003882 (Slender humerus)\n", + " \n", + " \n", + " #Slender long bone of upper arm\n", + " definition of HP:0003882 (Slender humerus)\n", + " \n", + " \n", + " Choroidal vascular hyperpermeability\n", + " definition of HP:0025570 (Choroidal vascular hyperpermeability)\n", + " \n", + " \n", + " Increased tendency of choiroidal blood vessels to allow fluids to leak characterized by multifocal choroidal hyperfluorescence on indocyanine green angiography (ICGA).\n", + " definition of HP:0025570 (Choroidal vascular hyperpermeability)\n", + " \n", + " \n", + " #Choroidal hyperpermeability\n", + " definition of HP:0025570 (Choroidal vascular hyperpermeability)\n", + " \n", + " \n", + " Proximal femoral focal deficiency\n", + " definition of HP:0030772 (Proximal femoral focal deficiency)\n", + " \n", + " \n", + " Proximal femoral focal deficiency is a deformity manifested by hypoplasia of a variable portion of the femur with shortening of the entire limb.\n", + " definition of HP:0030772 (Proximal femoral focal deficiency)\n", + " \n", + " \n", + " Soft-tissue ossification around the shoulders\n", + " definition of HP:0003837 (Soft-tissue ossification around the shoulders)\n", + " \n", + " \n", + " Formation of calcified tissue in the soft tissues surrounding the shoulder.\n", + " definition of HP:0003837 (Soft-tissue ossification around the shoulders)\n", + " \n", + " \n", + " Gastrointestinal desmoid tumor\n", + " definition of HP:0100245 (Gastrointestinal desmoid tumor)\n", + " \n", + " \n", + " Benign, slow-growing tumors without any metastatic potential. Despite their benign nature, they can damage nearby structures causing organ dysfunction. Histologically they resemble low-grade fibrosarcomas, but they are very locally aggressive and tend to recur even after complete resection. There is a tendency for recurrence in the setting of prior surgery and the most common localisation of these tumors is intraabdominal from smooth muscle cells of the instestine.\n", + " definition of HP:0100245 (Gastrointestinal desmoid tumor)\n", + " \n", + " \n", + " #Desmoid tumors #Desmoid tumours\n", + " definition of HP:0100245 (Gastrointestinal desmoid tumor)\n", + " \n", + " \n", + " Increased body weight\n", + " definition of HP:0004324 (Increased body weight)\n", + " \n", + " \n", + " Abnormally increased body weight.\n", + " definition of HP:0004324 (Increased body weight)\n", + " \n", + " \n", + " #Increased body weight\n", + " definition of HP:0004324 (Increased body weight)\n", + " \n", + " \n", + " Posterior corneal stroma punctiform multicolored opacities\n", + " definition of HP:0034327 (Posterior corneal stroma punctiform multicolored opacities)\n", + " \n", + " \n", + " Thin, punctiform elements of various colors in the posterior stroma of the cornea, immediately anterior to Descemet membrane. The elements are visible to direct and indirect illumination.\n", + " definition of HP:0034327 (Posterior corneal stroma punctiform multicolored opacities)\n", + " \n", + " \n", + " #Punctiform multicolored opacities in the posterior corneal stroma #Punctiform multicoloured opacities in the posterior corneal stroma\n", + " definition of HP:0034327 (Posterior corneal stroma punctiform multicolored opacities)\n", + " \n", + " \n", + " Short stepped shuffling gait\n", + " definition of HP:0007311 (Short stepped shuffling gait)\n", + " \n", + " \n", + " #Short stepped shuffling walk\n", + " definition of HP:0007311 (Short stepped shuffling gait)\n", + " \n", + " \n", + " Decreased low-density lipoprotein particle size\n", + " definition of HP:0032193 (Decreased low-density lipoprotein particle size)\n", + " \n", + " \n", + " An abnormal decrease in the average size of low-density lipoprotein particle size in the blood circulation.\n", + " definition of HP:0032193 (Decreased low-density lipoprotein particle size)\n", + " \n", + " \n", + " Elevated urine L-alloisoleucine level\n", + " definition of HP:0033156 (Elevated urine L-alloisoleucine level)\n", + " \n", + " \n", + " Abnormally increased level of L-alloisoleucine in the urine.\n", + " definition of HP:0033156 (Elevated urine L-alloisoleucine level)\n", + " \n", + " \n", + " Abnormal alpha granule content\n", + " definition of HP:0012527 (Abnormal alpha granule content)\n", + " \n", + " \n", + " A deviation from the normal contents of the platelet alpha granules, which normally contain hemostatic proteins such as fibrinogen, von Willebrand factor, and growth factors such as platelet-derived growth factor.\n", + " definition of HP:0012527 (Abnormal alpha granule content)\n", + " \n", + " \n", + " Breast cyst\n", + " definition of HP:6001046 (Breast cyst)\n", + " \n", + " \n", + " A benign, fluid-filled sac in the breast.\n", + " definition of HP:6001046 (Breast cyst)\n", + " \n", + " \n", + " Agenesis of primary mandibular lateral incisor\n", + " definition of HP:0200159 (Agenesis of primary mandibular lateral incisor)\n", + " \n", + " \n", + " #Agenesis of deciduous mandibular lateral incisor #Failure of development of deciduous mandibular lateral incisor #Failure of development of primary mandibular lateral incisor\n", + " definition of HP:0200159 (Agenesis of primary mandibular lateral incisor)\n", + " \n", + " \n", + " Focal aware myoclonic seizure\n", + " definition of HP:0032758 (Focal aware myoclonic seizure)\n", + " \n", + " \n", + " A type of focal myoclonic seizure during which awareness is fully retained throughout.\n", + " definition of HP:0032758 (Focal aware myoclonic seizure)\n", + " \n", + " \n", + " Perilobar nephrogenic rest\n", + " definition of HP:0012782 (Perilobar nephrogenic rest)\n", + " \n", + " \n", + " A type of nephrogenic rest associated with multiple lesions in the periphery of the renal lobe.\n", + " definition of HP:0012782 (Perilobar nephrogenic rest)\n", + " \n", + " \n", + " #Perilobar nephrogenic rests\n", + " definition of HP:0012782 (Perilobar nephrogenic rest)\n", + " \n", + " \n", + " Progressive vitiligo\n", + " definition of HP:0005602 (Progressive vitiligo)\n", + " \n", + " \n", + " Cervicomedullary schisis\n", + " definition of HP:0030325 (Cervicomedullary schisis)\n", + " \n", + " \n", + " Fissure within the spinal cord of the neck.\n", + " definition of HP:0030325 (Cervicomedullary schisis)\n", + " \n", + " \n", + " Abnormal thymus morphology\n", + " definition of HP:0000777 (Abnormal thymus morphology)\n", + " \n", + " \n", + " Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation.\n", + " definition of HP:0000777 (Abnormal thymus morphology)\n", + " \n", + " \n", + " #Abnormality of the thymus\n", + " definition of HP:0000777 (Abnormal thymus morphology)\n", + " \n", + " \n", + " Bronchial artery dilatation\n", + " definition of HP:0033390 (Bronchial artery dilatation)\n", + " \n", + " \n", + " Increased caliber of a bronchial artery, which can be defined as a bronchial artery diameter that exceeds 2 mm.\n", + " definition of HP:0033390 (Bronchial artery dilatation)\n", + " \n", + " \n", + " #Bronchial artery enlargement #Dilatation of a bronchial artery\n", + " definition of HP:0033390 (Bronchial artery dilatation)\n", + " \n", + " \n", + " Ameliorated by pyridoxal phosphate\n", + " definition of HP:0034569 (Ameliorated by pyridoxal phosphate)\n", + " \n", + " \n", + " Applies to a sign or symptom that is improved or made more bearable by ingestion of pyridoxal phosphate (activated vitamin B6).\n", + " definition of HP:0034569 (Ameliorated by pyridoxal phosphate)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the quadriceps\n", + " definition of HP:0009787 (Aplasia/Hypoplasia of the quadriceps)\n", + " \n", + " \n", + " Absence or underdevelopment of the quadriceps muscle.\n", + " definition of HP:0009787 (Aplasia/Hypoplasia of the quadriceps)\n", + " \n", + " \n", + " #Absent/small quadriceps #Absent/underdeveloped quadriceps\n", + " definition of HP:0009787 (Aplasia/Hypoplasia of the quadriceps)\n", + " \n", + " \n", + " Diagnostic behavioral phenotype\n", + " definition of HP:0025783 (Diagnostic behavioral phenotype)\n", + " \n", + " \n", + " The Human Phenotype Ontology provides terms to describe specific phenotypic abnormalities rather than disease diagnoses. Nevertheless, it is common for descriptions such as 'Autism' to be used to describe individuals affected with Mendelian forms of neurodevelopmental disease and many other conditions. If possible, we recommend annotation using specific terms in other branchs of the Atypical behavior subontology, but if this is not possible, then terms from this branch may be used.\n", + " definition of HP:0025783 (Diagnostic behavioral phenotype)\n", + " \n", + " \n", + " Polymorphic focal epileptiform discharges\n", + " definition of HP:0011192 (Polymorphic focal epileptiform discharges)\n", + " \n", + " \n", + " Focal epileptiform discharges of different shapes and frequencies.\n", + " definition of HP:0011192 (Polymorphic focal epileptiform discharges)\n", + " \n", + " \n", + " Aphthous ulcer\n", + " definition of HP:0032154 (Aphthous ulcer)\n", + " \n", + " \n", + " Oral aphthous ulcers typically present as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border.\n", + " definition of HP:0032154 (Aphthous ulcer)\n", + " \n", + " \n", + " #Canker sore\n", + " definition of HP:0032154 (Aphthous ulcer)\n", + " \n", + " \n", + " Fibro-obliterative bile-duct lesion\n", + " definition of HP:0034328 (Fibro-obliterative bile-duct lesion)\n", + " \n", + " \n", + " A condition in which the lumen of a bile duct has been filled by fibrous scar material, in effect replacing the bile duct with a fibrous scar.\n", + " definition of HP:0034328 (Fibro-obliterative bile-duct lesion)\n", + " \n", + " \n", + " #Fibro-obliterative bile-duct scarring #Fibro-obliterative loss of bile ducts\n", + " definition of HP:0034328 (Fibro-obliterative bile-duct lesion)\n", + " \n", + " \n", + " Abnormal insulin like growth factor binding protein acid labile subunit level\n", + " definition of HP:0031034 (Abnormal insulin like growth factor binding protein acid labile subunit level)\n", + " \n", + " \n", + " A deviation from the normal blood concentration of the insulin like growth factor binding protein acid labile subunit (IGFALS; Entrez Gene ID 3483). The acid-labile subunit (IGFALS) acts in the insulin-like growth (IGF) system by binding circulating IGF1 in a ternary complex with binding protein (IGFBP)-3 to prevent IGF1 from crossing the endothelial barrier.\n", + " definition of HP:0031034 (Abnormal insulin like growth factor binding protein acid labile subunit level)\n", + " \n", + " \n", + " Architectural distortion of the lung\n", + " definition of HP:0033007 (Architectural distortion of the lung)\n", + " \n", + " \n", + " Architectural distortion is characterized by abnormal displacement of bronchi, vessels, fissures, or septa caused by diffuse or localized lung disease, particularly interstitial fibrosis. This is visible in lung biopsy and CT scans in a distorted appearance and is usually associated with pulmonary fibrosis and accompanied by volume loss.\n", + " definition of HP:0033007 (Architectural distortion of the lung)\n", + " \n", + " \n", + " Muscle abnormality related to mitochondrial dysfunction\n", + " definition of HP:0003800 (Muscle abnormality related to mitochondrial dysfunction)\n", + " \n", + " \n", + " Accessory eyelid\n", + " definition of HP:0430008 (Accessory eyelid)\n", + " \n", + " \n", + " The presence of more than the normal number of eyelids.\n", + " definition of HP:0430008 (Accessory eyelid)\n", + " \n", + " \n", + " #Extra eyelid\n", + " definition of HP:0430008 (Accessory eyelid)\n", + " \n", + " \n", + " Agenesis of incisor\n", + " definition of HP:0006485 (Agenesis of incisor)\n", + " \n", + " \n", + " Agenesis of incisor.\n", + " definition of HP:0006485 (Agenesis of incisor)\n", + " \n", + " \n", + " #Failure of development of incisor\n", + " definition of HP:0006485 (Agenesis of incisor)\n", + " \n", + " \n", + " Ketosis\n", + " definition of HP:0001946 (Ketosis)\n", + " \n", + " \n", + " Presence of elevated levels of ketone bodies in the body.\n", + " definition of HP:0001946 (Ketosis)\n", + " \n", + " \n", + " #High levels of ketone bodies #Hyperketosis\n", + " definition of HP:0001946 (Ketosis)\n", + " \n", + " \n", + " Recurrent infections due to aspiration\n", + " definition of HP:0004891 (Recurrent infections due to aspiration)\n", + " \n", + " \n", + " Increased susceptibility to infections due to aspiration, as manifested by recurrent episodes of infections due to aspiration.\n", + " definition of HP:0004891 (Recurrent infections due to aspiration)\n", + " \n", + " \n", + " Absent epiphysis of the proximal phalanx of the 2nd finger\n", + " definition of HP:0009524 (Absent epiphysis of the proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Absent end part of innermost long bone of index finger\n", + " definition of HP:0009524 (Absent epiphysis of the proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Abnormality of blood volume homeostasis\n", + " definition of HP:0011104 (Abnormality of blood volume homeostasis)\n", + " \n", + " \n", + " An abnormality in the amount of volume occupied by intravascular blood.\n", + " definition of HP:0011104 (Abnormality of blood volume homeostasis)\n", + " \n", + " \n", + " Severe constriction of peripheral visual field\n", + " definition of HP:0030526 (Severe constriction of peripheral visual field)\n", + " \n", + " \n", + " Peripheral visual field constriction with 10-19 degrees central field preserved.\n", + " definition of HP:0030526 (Severe constriction of peripheral visual field)\n", + " \n", + " \n", + " #Severe peripheral visual field loss\n", + " definition of HP:0030526 (Severe constriction of peripheral visual field)\n", + " \n", + " \n", + " Chronic decreased circulating total IgG\n", + " definition of HP:0032134 (Chronic decreased circulating total IgG)\n", + " \n", + " \n", + " A lasting reduction beneath the normal level of total immunoglobulin G (IgG) in the blood.\n", + " definition of HP:0032134 (Chronic decreased circulating total IgG)\n", + " \n", + " \n", + " #Chronic decreased total IgG in blood\n", + " definition of HP:0032134 (Chronic decreased circulating total IgG)\n", + " \n", + " \n", + " Convergence excess esotropia\n", + " definition of HP:0031766 (Convergence excess esotropia)\n", + " \n", + " \n", + " An intermittent esotropia with binocular single vision present at distance fixation but esotropia on accommodation for near fixation. Usually associated with hypermetropia but patients can be emmetropic and rarely myopic. Associated with a high accommodative convergence/accommodation (AC/A) ratio.\n", + " definition of HP:0031766 (Convergence excess esotropia)\n", + " \n", + " \n", + " Coronary artery calcification\n", + " definition of HP:0001717 (Coronary artery calcification)\n", + " \n", + " \n", + " An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a coronary artery.\n", + " definition of HP:0001717 (Coronary artery calcification)\n", + " \n", + " \n", + " Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis\n", + " definition of HP:0011655 (Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis)\n", + " \n", + " \n", + " A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.\n", + " definition of HP:0011655 (Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis)\n", + " \n", + " \n", + " #DORV with subaortic VSD and pulmonary stenosis\n", + " definition of HP:0011655 (Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis)\n", + " \n", + " \n", + " Ectopic ossification in ligament tissue\n", + " definition of HP:0011989 (Ectopic ossification in ligament tissue)\n", + " \n", + " \n", + " Formation of abnormal bony tissue within ligament tissue.\n", + " definition of HP:0011989 (Ectopic ossification in ligament tissue)\n", + " \n", + " \n", + " Broad phalanges of the 3rd toe\n", + " definition of HP:0010360 (Broad phalanges of the 3rd toe)\n", + " \n", + " \n", + " #Wide bones of 3rd toe\n", + " definition of HP:0010360 (Broad phalanges of the 3rd toe)\n", + " \n", + " \n", + " Premature anterior fontanel closure\n", + " definition of HP:0008491 (Premature anterior fontanel closure)\n", + " \n", + " \n", + " Early closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life.\n", + " definition of HP:0008491 (Premature anterior fontanel closure)\n", + " \n", + " \n", + " Elevated circulating D-glyceric concentration\n", + " definition of HP:6000371 (Elevated circulating D-glyceric concentration)\n", + " \n", + " \n", + " The concentration of D-gyceric acid in the blood circulation is above the upper limit of normal.\n", + " definition of HP:6000371 (Elevated circulating D-glyceric concentration)\n", + " \n", + " \n", + " Fetal oral mass\n", + " definition of HP:6000470 (Fetal oral mass)\n", + " \n", + " \n", + " A swelling or enlargement localized to the oral cavity of a fetus. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined. This finding is generally first observed by prenatal sonography or magnetic resonance imaging.\n", + " definition of HP:6000470 (Fetal oral mass)\n", + " \n", + " \n", + " Elevated urinary succinylacetone level\n", + " definition of HP:6000598 (Elevated urinary succinylacetone level)\n", + " \n", + " \n", + " Presence in the urine of succinylacetone, which is one of the toic block metabolites formed in tyrosinaemia type 1 because of a defect in the final enzyme of the pathway of the degradation of tyrosine, namely fumarylacetoacetase (FAH, EC 3.7.1.2).\n", + " definition of HP:6000598 (Elevated urinary succinylacetone level)\n", + " \n", + " \n", + " Reduced circulating interferon gamma concentration\n", + " definition of HP:0033253 (Reduced circulating interferon gamma concentration)\n", + " \n", + " \n", + " A reduction in the concentration of interferon gamma measured in the blood circulation.\n", + " definition of HP:0033253 (Reduced circulating interferon gamma concentration)\n", + " \n", + " \n", + " #Reduced circulating interferon gamma\n", + " definition of HP:0033253 (Reduced circulating interferon gamma concentration)\n", + " \n", + " \n", + " Vaginal pruritus\n", + " definition of HP:0030161 (Vaginal pruritus)\n", + " \n", + " \n", + " A sensation of itching in the vagina.\n", + " definition of HP:0030161 (Vaginal pruritus)\n", + " \n", + " \n", + " Cryptotia\n", + " definition of HP:0011252 (Cryptotia)\n", + " \n", + " \n", + " Invagination of the superior part of the auricle under a fold of temporal skin.\n", + " definition of HP:0011252 (Cryptotia)\n", + " \n", + " \n", + " #Buried ear #Hidden ear\n", + " definition of HP:0011252 (Cryptotia)\n", + " \n", + " \n", + " Upgaze palsy\n", + " definition of HP:0025331 (Upgaze palsy)\n", + " \n", + " \n", + " A limitation of the ability to direct one's gaze above the horizontal meridian.\n", + " definition of HP:0025331 (Upgaze palsy)\n", + " \n", + " \n", + " #Supranuclear upgaze palsy #Upgaze paresis\n", + " definition of HP:0025331 (Upgaze palsy)\n", + " \n", + " \n", + " Round radial epiphyses\n", + " definition of HP:0004006 (Round radial epiphyses)\n", + " \n", + " \n", + " Broad nail\n", + " definition of HP:0001821 (Broad nail)\n", + " \n", + " \n", + " Increased width of nail.\n", + " definition of HP:0001821 (Broad nail)\n", + " \n", + " \n", + " #Broad fingernails #Broad nail #Wide fingernails\n", + " definition of HP:0001821 (Broad nail)\n", + " \n", + " \n", + " Short femoral neck\n", + " definition of HP:0100864 (Short femoral neck)\n", + " \n", + " \n", + " An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).\n", + " definition of HP:0100864 (Short femoral neck)\n", + " \n", + " \n", + " #Hypoplasia of the femoral neck #Hypoplastic femoral neck #Short femoral necks #Short neck of thighbone\n", + " definition of HP:0100864 (Short femoral neck)\n", + " \n", + " \n", + " Mortality/Aging\n", + " definition of HP:0040006 (Mortality/Aging)\n", + " \n", + " \n", + " Target cells\n", + " definition of HP:0034280 (Target cells)\n", + " \n", + " \n", + " Target cells (codocytes) have a centrally located disk of hemoglobin surrounded by an area of pallor with an outer rim of hemoglobin adjacent to the cell membrane giving the cell the appearance of a target.\n", + " definition of HP:0034280 (Target cells)\n", + " \n", + " \n", + " #Codocytes\n", + " definition of HP:0034280 (Target cells)\n", + " \n", + " \n", + " Abnormal biliary tract morphology\n", + " definition of HP:0012440 (Abnormal biliary tract morphology)\n", + " \n", + " \n", + " A structural abnormality of the biliary tree.\n", + " definition of HP:0012440 (Abnormal biliary tract morphology)\n", + " \n", + " \n", + " #Anomaly of the biliary tract\n", + " definition of HP:0012440 (Abnormal biliary tract morphology)\n", + " \n", + " \n", + " Carpal osteolysis\n", + " definition of HP:0001495 (Carpal osteolysis)\n", + " \n", + " \n", + " Osteolysis affecting carpal bones.\n", + " definition of HP:0001495 (Carpal osteolysis)\n", + " \n", + " \n", + " #Carpal bone osteolysis\n", + " definition of HP:0001495 (Carpal osteolysis)\n", + " \n", + " \n", + " Metaphyseal dappling\n", + " definition of HP:0011860 (Metaphyseal dappling)\n", + " \n", + " \n", + " The presence of spots or rounded patches of abnormally increased density of metaphyseal bone.\n", + " definition of HP:0011860 (Metaphyseal dappling)\n", + " \n", + " \n", + " #Dappled metaphyseal sclerosis\n", + " definition of HP:0011860 (Metaphyseal dappling)\n", + " \n", + " \n", + " Absent paranasal sinuses\n", + " definition of HP:0002689 (Absent paranasal sinuses)\n", + " \n", + " \n", + " Aplasia of the paranasal sinuses.\n", + " definition of HP:0002689 (Absent paranasal sinuses)\n", + " \n", + " \n", + " #Absence of paranasal sinuses #Missing paranasal sinuses\n", + " definition of HP:0002689 (Absent paranasal sinuses)\n", + " \n", + " \n", + " Multiple long-bone exostoses\n", + " definition of HP:0005039 (Multiple long-bone exostoses)\n", + " \n", + " \n", + " Multiple exostoses originating in long bones.\n", + " definition of HP:0005039 (Multiple long-bone exostoses)\n", + " \n", + " \n", + " #Multiple exostoses of long tubular bones\n", + " definition of HP:0005039 (Multiple long-bone exostoses)\n", + " \n", + " \n", + " Breast abscess\n", + " definition of HP:0020225 (Breast abscess)\n", + " \n", + " \n", + " A circumscribed area of pus or necrotic debris in the breast.\n", + " definition of HP:0020225 (Breast abscess)\n", + " \n", + " \n", + " Anti-HLA-B IgG1 antibody positivity\n", + " definition of HP:0034023 (Anti-HLA-B IgG1 antibody positivity)\n", + " \n", + " \n", + " The presence of IgG1 autoantibodies in the blood circulation that react against a human leukocyte antigen-B (HLA-B).\n", + " definition of HP:0034023 (Anti-HLA-B IgG1 antibody positivity)\n", + " \n", + " \n", + " Uterine myxoma\n", + " definition of HP:0034948 (Uterine myxoma)\n", + " \n", + " \n", + " A myxoma (tumor of primitive connective tissue) localized to the uterus.\n", + " definition of HP:0034948 (Uterine myxoma)\n", + " \n", + " \n", + " Bilobed right lung\n", + " definition of HP:0033183 (Bilobed right lung)\n", + " \n", + " \n", + " A developmental defect of pulmonary lobation characterized by the presence of only two lobes of the right lung.\n", + " definition of HP:0033183 (Bilobed right lung)\n", + " \n", + " \n", + " Abnormal rectum morphology\n", + " definition of HP:0002034 (Abnormal rectum morphology)\n", + " \n", + " \n", + " An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus.\n", + " definition of HP:0002034 (Abnormal rectum morphology)\n", + " \n", + " \n", + " #Abnormality of the rectum #Anomaly of the rectum\n", + " definition of HP:0002034 (Abnormal rectum morphology)\n", + " \n", + " \n", + " Decreased circulating mannose-binding protein concentration\n", + " definition of HP:0032305 (Decreased circulating mannose-binding protein concentration)\n", + " \n", + " \n", + " Concentration of mannose-binding protein in the blood circulation below the lower limit of normal.\n", + " definition of HP:0032305 (Decreased circulating mannose-binding protein concentration)\n", + " \n", + " \n", + " #Decreased mannose-binding protein level\n", + " definition of HP:0032305 (Decreased circulating mannose-binding protein concentration)\n", + " \n", + " \n", + " Cardiomyopathy\n", + " definition of HP:0001638 (Cardiomyopathy)\n", + " \n", + " \n", + " A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.\n", + " definition of HP:0001638 (Cardiomyopathy)\n", + " \n", + " \n", + " #Disease of the heart muscle\n", + " definition of HP:0001638 (Cardiomyopathy)\n", + " \n", + " \n", + " Osteolysis involving bones of the lower limbs\n", + " definition of HP:0009139 (Osteolysis involving bones of the lower limbs)\n", + " \n", + " \n", + " Cutaneous leiomyoma\n", + " definition of HP:0007620 (Cutaneous leiomyoma)\n", + " \n", + " \n", + " The presence of leiomyoma of the skin.\n", + " definition of HP:0007620 (Cutaneous leiomyoma)\n", + " \n", + " \n", + " #Cutaneous leiomyomas #Cutaneous leiomyomata\n", + " definition of HP:0007620 (Cutaneous leiomyoma)\n", + " \n", + " \n", + " Postaxial oligodactyly\n", + " definition of HP:0006210 (Postaxial oligodactyly)\n", + " \n", + " \n", + " Triangular nail\n", + " definition of HP:6000649 (Triangular nail)\n", + " \n", + " \n", + " Nail so wide as long with a distal part presenting an acute angle.\n", + " definition of HP:6000649 (Triangular nail)\n", + " \n", + " \n", + " #Triangular shaped nail\n", + " definition of HP:6000649 (Triangular nail)\n", + " \n", + " \n", + " Pectus carinatum\n", + " definition of HP:0000768 (Pectus carinatum)\n", + " \n", + " \n", + " A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.\n", + " definition of HP:0000768 (Pectus carinatum)\n", + " \n", + " \n", + " #Pigeon chest\n", + " definition of HP:0000768 (Pectus carinatum)\n", + " \n", + " \n", + " Elevated urinary 2'-deoxyadenosine level\n", + " definition of HP:6000123 (Elevated urinary 2'-deoxyadenosine level)\n", + " \n", + " \n", + " The amount of 2'-deoxyadenosine (dAdo) in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000123 (Elevated urinary 2'-deoxyadenosine level)\n", + " \n", + " \n", + " #2'-deoxyadenosine (dAdo) elevated in urine #Elevated urinary dAdo level\n", + " definition of HP:6000123 (Elevated urinary 2'-deoxyadenosine level)\n", + " \n", + " \n", + " Hypervolemia\n", + " definition of HP:0011105 (Hypervolemia)\n", + " \n", + " \n", + " An increase in the amount of intravascular fluid, particularly in the volume of the circulating blood.\n", + " definition of HP:0011105 (Hypervolemia)\n", + " \n", + " \n", + " #Fluid overload in blood\n", + " definition of HP:0011105 (Hypervolemia)\n", + " \n", + " \n", + " Increased number of elastic fibers in the dermis\n", + " definition of HP:0025164 (Increased number of elastic fibers in the dermis)\n", + " \n", + " \n", + " An elevated number of elastic fibers, that is of bundles of proteins and glycoproteins in the extracellular matrix in the reticular dermis. Elastic fibers can stretch and recoil back to their original length. This feature can be appreciated on histology with hematoxylin and eosin or other staining methods.\n", + " definition of HP:0025164 (Increased number of elastic fibers in the dermis)\n", + " \n", + " \n", + " #Increased number of elastic fibres in the dermis\n", + " definition of HP:0025164 (Increased number of elastic fibers in the dermis)\n", + " \n", + " \n", + " Dentin dysplasia\n", + " definition of HP:0033784 (Dentin dysplasia)\n", + " \n", + " \n", + " This is a bundled term as dentin dysplasia is composed of short roots with pointed ends and taurodontism and intrapulpal calcifications.\n", + " definition of HP:0033784 (Dentin dysplasia)\n", + " \n", + " \n", + " Triggered by physical trauma\n", + " definition of HP:0031135 (Triggered by physical trauma)\n", + " \n", + " \n", + " Applies to a sign or symptom that is provoked or brought about by exposure to a trauma (injury to tissue).\n", + " definition of HP:0031135 (Triggered by physical trauma)\n", + " \n", + " \n", + " #Physical trauma triggered symptoms\n", + " definition of HP:0031135 (Triggered by physical trauma)\n", + " \n", + " \n", + " Fiber type grouping\n", + " definition of HP:0033685 (Fiber type grouping)\n", + " \n", + " \n", + " An abnormal distribution of muscle fiber types in muscle tissue. Human skeletal muscle contains at least two fiber types recognizable by histochemical techniques. In transverse sections of normal skeletal muscle, type 1 and type 2 fibers are distributed in a random fashion. Grouping of fibers of the same type can be seen in certain peripheral neuropathies, thought to be due to reinnervation of denervated muscle fibers by sprouting axons. With grouping, motor units enlarge. The fibers of a motor unit, which are normally scattered, come to lie adjacent to one another. Histochemical examination shows groups of muscle fibers of the same histochemical type.\n", + " definition of HP:0033685 (Fiber type grouping)\n", + " \n", + " \n", + " #Fibre type grouping\n", + " definition of HP:0033685 (Fiber type grouping)\n", + " \n", + " \n", + " Rudimentary to absent tibiae\n", + " definition of HP:0006426 (Rudimentary to absent tibiae)\n", + " \n", + " \n", + " Fetal abdominal cyst\n", + " definition of HP:4000139 (Fetal abdominal cyst)\n", + " \n", + " \n", + " Fetal abdominal cysts are usually detected during the second trimester anomaly scan or discovered incidentally at later gestations. However, a definitive diagnosis is often not made until postnatal life. The most common etiologies of fetal abdominal cysts are: ovarian, gastrointestinal cystic duplication, liver and choledochal, meconium pseudocysts, mesenteric and adrenal. Following identification of a cyst, careful morphological assessment allows the prediction of their natural history and importantly, the likelihood of surgical intervention being required postnatally.\n", + " definition of HP:4000139 (Fetal abdominal cyst)\n", + " \n", + " \n", + " #Fetal cystic abdominal mass #Foetal abdominal cyst #Foetal cystic abdominal mass\n", + " definition of HP:4000139 (Fetal abdominal cyst)\n", + " \n", + " \n", + " Cone monochromacy\n", + " definition of HP:0011517 (Cone monochromacy)\n", + " \n", + " \n", + " The condition of having both rods and cones, but only a single kind of cone. Affected individuals have good pattern vision in daylight, but cannot distinguish between colors.\n", + " definition of HP:0011517 (Cone monochromacy)\n", + " \n", + " \n", + " Weakness of the intrinsic hand muscles\n", + " definition of HP:0009005 (Weakness of the intrinsic hand muscles)\n", + " \n", + " \n", + " Positive blood 1,3 beta glucan test\n", + " definition of HP:0020153 (Positive blood 1,3 beta glucan test)\n", + " \n", + " \n", + " Beta-1,3-glucan is a major constituent of all of the characterized fungal cell walls, making up between 30-80 percent of the mass of the wall. It is a biomarker of fungal infections such as invasive pulmonary aspergillosis.\n", + " definition of HP:0020153 (Positive blood 1,3 beta glucan test)\n", + " \n", + " \n", + " Ameliorated by naloxone\n", + " definition of HP:0034568 (Ameliorated by naloxone)\n", + " \n", + " \n", + " Applies to a sign or symptom that is improved or made more bearable by treatment with naloxone, an opioid antagonist.\n", + " definition of HP:0034568 (Ameliorated by naloxone)\n", + " \n", + " \n", + " Abnormal knee morphology\n", + " definition of HP:0034669 (Abnormal knee morphology)\n", + " \n", + " \n", + " A structural abnormality of the knee joint or surrounding structures.\n", + " definition of HP:0034669 (Abnormal knee morphology)\n", + " \n", + " \n", + " Gastrointestinal inflammation\n", + " definition of HP:0004386 (Gastrointestinal inflammation)\n", + " \n", + " \n", + " Inflammation of the alimentary part of the gastrointestinal system.\n", + " definition of HP:0004386 (Gastrointestinal inflammation)\n", + " \n", + " \n", + " #Gastrointestinal inflammation #GI inflammation\n", + " definition of HP:0004386 (Gastrointestinal inflammation)\n", + " \n", + " \n", + " Cryofibrinogenemia\n", + " definition of HP:0034422 (Cryofibrinogenemia)\n", + " \n", + " \n", + " Cryofibrinogen is an abnormal protein that forms precipitate only in plasma. consisting of fibrinogen, fibronectin, alpha1-antitrypsin and alpha2-macroglobulin.\n", + " definition of HP:0034422 (Cryofibrinogenemia)\n", + " \n", + " \n", + " Motor regression\n", + " definition of HP:0033044 (Motor regression)\n", + " \n", + " \n", + " Loss of previously achieved motor skills, as manifested by loss of developmental motor milestones.\n", + " definition of HP:0033044 (Motor regression)\n", + " \n", + " \n", + " #Regression of motor skills\n", + " definition of HP:0033044 (Motor regression)\n", + " \n", + " \n", + " Penetrating foot ulcers\n", + " definition of HP:0001026 (Penetrating foot ulcers)\n", + " \n", + " \n", + " #Penetrating foot ulcers\n", + " definition of HP:0001026 (Penetrating foot ulcers)\n", + " \n", + " \n", + " Uterine synechiae\n", + " definition of HP:0030712 (Uterine synechiae)\n", + " \n", + " \n", + " Adhesions or scar tissue that form inside the cavity of the uterus.\n", + " definition of HP:0030712 (Uterine synechiae)\n", + " \n", + " \n", + " Multiple skeletal anomalies\n", + " definition of HP:0005775 (Multiple skeletal anomalies)\n", + " \n", + " \n", + " Anti-nuclear matrix protein-2 antibody positivity\n", + " definition of HP:0034142 (Anti-nuclear matrix protein-2 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NXP-2.\n", + " definition of HP:0034142 (Anti-nuclear matrix protein-2 antibody positivity)\n", + " \n", + " \n", + " #Anti-MJ/NXP-2 antibody positivity #Anti-NXP-2 antibody positivity\n", + " definition of HP:0034142 (Anti-nuclear matrix protein-2 antibody positivity)\n", + " \n", + " \n", + " Unesterified cholesterol accumulation in cultured fibroblasts\n", + " definition of HP:6000158 (Unesterified cholesterol accumulation in cultured fibroblasts)\n", + " \n", + " \n", + " An abnormal result of the the filipin test. In this test is based on the reaction of unesterified cholesterol with fluorescent antibiotic filipin giving a strongly fluorescent, stable cholesterol-filipin complex suitable for in situ detection. An abnormal test result is present if there is a perinuclear accumulation of staining in lysosomal storage organelles (LSOs).\n", + " definition of HP:6000158 (Unesterified cholesterol accumulation in cultured fibroblasts)\n", + " \n", + " \n", + " #Positive filipin test\n", + " definition of HP:6000158 (Unesterified cholesterol accumulation in cultured fibroblasts)\n", + " \n", + " \n", + " Elevated urinary 3-hydroxyisobutyric acid level\n", + " definition of HP:6000607 (Elevated urinary 3-hydroxyisobutyric acid level)\n", + " \n", + " \n", + " The amount of 3-hydroxyisobutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000607 (Elevated urinary 3-hydroxyisobutyric acid level)\n", + " \n", + " \n", + " Bullet-shaped proximal phalanx of the thumb\n", + " definition of HP:0009631 (Bullet-shaped proximal phalanx of the thumb)\n", + " \n", + " \n", + " Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the thumb is affected.\n", + " definition of HP:0009631 (Bullet-shaped proximal phalanx of the thumb)\n", + " \n", + " \n", + " #Bullet-shaped innermost thumb bone\n", + " definition of HP:0009631 (Bullet-shaped proximal phalanx of the thumb)\n", + " \n", + " \n", + " Sensorimotor neuropathy\n", + " definition of HP:0007141 (Sensorimotor neuropathy)\n", + " \n", + " \n", + " #Mixed polyneuropathy #Nerve damage causing decreased feeling and movement #Sensorimotor peripheral neuropathy\n", + " definition of HP:0007141 (Sensorimotor neuropathy)\n", + " \n", + " \n", + " Pulmonary artery hypoplasia\n", + " definition of HP:0004971 (Pulmonary artery hypoplasia)\n", + " \n", + " \n", + " Underdevelopment of the pulmonary artery.\n", + " definition of HP:0004971 (Pulmonary artery hypoplasia)\n", + " \n", + " \n", + " #Underdeveloped lung artery #Underdeveloped pulmonary artery\n", + " definition of HP:0004971 (Pulmonary artery hypoplasia)\n", + " \n", + " \n", + " Non-convulsive status epilepticus without coma\n", + " definition of HP:0032671 (Non-convulsive status epilepticus without coma)\n", + " \n", + " \n", + " A type of status epilepticus without prominent motor symptoms in the absence of coma.\n", + " definition of HP:0032671 (Non-convulsive status epilepticus without coma)\n", + " \n", + " \n", + " Elevated circulating thyroid-stimulating hormone concentration\n", + " definition of HP:0002925 (Elevated circulating thyroid-stimulating hormone concentration)\n", + " \n", + " \n", + " Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation.\n", + " definition of HP:0002925 (Elevated circulating thyroid-stimulating hormone concentration)\n", + " \n", + " \n", + " #Elevated thyroid stimulating hormone #Elevated thyroid stimulating hormone levels #High TSH #Increased serum thyroid-stimulating hormone #Increased thyroid-stimulating hormone #Increased thyroid-stimulating hormone level #Increased thyrotropin level #Thyroid-stimulating hormone excess #TSH excess\n", + " definition of HP:0002925 (Elevated circulating thyroid-stimulating hormone concentration)\n", + " \n", + " \n", + " Premacular hemorrhage\n", + " definition of HP:0031804 (Premacular hemorrhage)\n", + " \n", + " \n", + " #Premacular haemorrhage\n", + " definition of HP:0031804 (Premacular hemorrhage)\n", + " \n", + " \n", + " Calcium channel antibody positivity\n", + " definition of HP:0030209 (Calcium channel antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against voltage-gated calcium channels.\n", + " definition of HP:0030209 (Calcium channel antibody positivity)\n", + " \n", + " \n", + " #Ca channel antibody positivity #Ca2+ channel antibody positivity\n", + " definition of HP:0030209 (Calcium channel antibody positivity)\n", + " \n", + " \n", + " Increased fetal long bone echogenicity\n", + " definition of HP:0034074 (Increased fetal long bone echogenicity)\n", + " \n", + " \n", + " An abnormally elevated echogenicity of fetal long bones in a prenatal sonographic investigation. This finding is due to hypermineralization.\n", + " definition of HP:0034074 (Increased fetal long bone echogenicity)\n", + " \n", + " \n", + " Early satiety\n", + " definition of HP:0033842 (Early satiety)\n", + " \n", + " \n", + " The condition of being unable to eat a full meal because of a feeling of fullness (satiety), or or feeling very full after eating only a small amount of food.\n", + " definition of HP:0033842 (Early satiety)\n", + " \n", + " \n", + " #Feeling full quickly when eating #Not able to finish a normal-sized meal\n", + " definition of HP:0033842 (Early satiety)\n", + " \n", + " \n", + " Retinal atrophy\n", + " definition of HP:0001105 (Retinal atrophy)\n", + " \n", + " \n", + " Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.\n", + " definition of HP:0001105 (Retinal atrophy)\n", + " \n", + " \n", + " Biliary tract obstruction\n", + " definition of HP:0005230 (Biliary tract obstruction)\n", + " \n", + " \n", + " Obstruction affecting the biliary tree.\n", + " definition of HP:0005230 (Biliary tract obstruction)\n", + " \n", + " \n", + " Decreased number of sweat glands\n", + " definition of HP:0007500 (Decreased number of sweat glands)\n", + " \n", + " \n", + " The presence of fewer than normal sweat glands.\n", + " definition of HP:0007500 (Decreased number of sweat glands)\n", + " \n", + " \n", + " #Decreased sweat glands #Decreased sweat pores\n", + " definition of HP:0007500 (Decreased number of sweat glands)\n", + " \n", + " \n", + " Green teeth\n", + " definition of HP:0011075 (Green teeth)\n", + " \n", + " \n", + " A green staining of teeth.\n", + " definition of HP:0011075 (Green teeth)\n", + " \n", + " \n", + " #Green colored teeth #Green coloured teeth #Green teeth #Green tooth shade\n", + " definition of HP:0011075 (Green teeth)\n", + " \n", + " \n", + " Decreased circulating apolipoprotein concentration\n", + " definition of HP:0033459 (Decreased circulating apolipoprotein concentration)\n", + " \n", + " \n", + " Reduced concentration in the blood circulation of a lipid-transport protein (apoliprotein).\n", + " definition of HP:0033459 (Decreased circulating apolipoprotein concentration)\n", + " \n", + " \n", + " #Decreased apolipoprotein level\n", + " definition of HP:0033459 (Decreased circulating apolipoprotein concentration)\n", + " \n", + " \n", + " Abnormality of the epiphysis of the 2nd metacarpal\n", + " definition of HP:0010220 (Abnormality of the epiphysis of the 2nd metacarpal)\n", + " \n", + " \n", + " Any abnormality of the epiphysis of the second metacarpal bone.\n", + " definition of HP:0010220 (Abnormality of the epiphysis of the 2nd metacarpal)\n", + " \n", + " \n", + " #Abnormality of the end part of the 2nd long bone of hand\n", + " definition of HP:0010220 (Abnormality of the epiphysis of the 2nd metacarpal)\n", + " \n", + " \n", + " Asthenia\n", + " definition of HP:0025406 (Asthenia)\n", + " \n", + " \n", + " A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body.\n", + " definition of HP:0025406 (Asthenia)\n", + " \n", + " \n", + " #Lack of energy and strength #Weakness\n", + " definition of HP:0025406 (Asthenia)\n", + " \n", + " \n", + " Low-grade fever\n", + " definition of HP:0011134 (Low-grade fever)\n", + " \n", + " \n", + " Mild fever that does not exceed 38.5 degrees centigrade.\n", + " definition of HP:0011134 (Low-grade fever)\n", + " \n", + " \n", + " #Low-grade fever #Mild fever\n", + " definition of HP:0011134 (Low-grade fever)\n", + " \n", + " \n", + " Hyperkeratosis over edematous areas\n", + " definition of HP:0007448 (Hyperkeratosis over edematous areas)\n", + " \n", + " \n", + " Meningeal calcification\n", + " definition of HP:0100250 (Meningeal calcification)\n", + " \n", + " \n", + " Calcium deposition affecting the Meninges.\n", + " definition of HP:0100250 (Meningeal calcification)\n", + " \n", + " \n", + " Intracranial meningioma\n", + " definition of HP:0100009 (Intracranial meningioma)\n", + " \n", + " \n", + " Pain in penis\n", + " definition of HP:0040411 (Pain in penis)\n", + " \n", + " \n", + " An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the penis.\n", + " definition of HP:0040411 (Pain in penis)\n", + " \n", + " \n", + " #Penile pain\n", + " definition of HP:0040411 (Pain in penis)\n", + " \n", + " \n", + " Elevated circulating tiglylglycine concentration\n", + " definition of HP:0034290 (Elevated circulating tiglylglycine concentration)\n", + " \n", + " \n", + " Concentration of tiglylglycine in the blood circulation above the upper limit of normal.\n", + " definition of HP:0034290 (Elevated circulating tiglylglycine concentration)\n", + " \n", + " \n", + " Absent/shortened dynein arms\n", + " definition of HP:0200106 (Absent/shortened dynein arms)\n", + " \n", + " \n", + " Crowded carpal bones\n", + " definition of HP:0006180 (Crowded carpal bones)\n", + " \n", + " \n", + " Megakaryocytopenia\n", + " definition of HP:0005548 (Megakaryocytopenia)\n", + " \n", + " \n", + " A reduced count of megakaryocytes.\n", + " definition of HP:0005548 (Megakaryocytopenia)\n", + " \n", + " \n", + " #Megakaryocytes decreased im bone marrow\n", + " definition of HP:0005548 (Megakaryocytopenia)\n", + " \n", + " \n", + " Reduced hepatic methionine adenosyltransferase activity\n", + " definition of HP:0034693 (Reduced hepatic methionine adenosyltransferase activity)\n", + " \n", + " \n", + " Activity of methionine adenosyltransferase in the liver below the lower limit of normal. Note that there are multiple methionine adenosyltransferase isoezymes.\n", + " definition of HP:0034693 (Reduced hepatic methionine adenosyltransferase activity)\n", + " \n", + " \n", + " Elevated urine malic acid level\n", + " definition of HP:6001000 (Elevated urine malic acid level)\n", + " \n", + " \n", + " The amount of malic acid in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6001000 (Elevated urine malic acid level)\n", + " \n", + " \n", + " Focal lupus nephritis\n", + " definition of HP:0033731 (Focal lupus nephritis)\n", + " \n", + " \n", + " A subclass of lupus nephritis with active or inactive focal, segmental or global endocapillary or extracapillary glomerulonephritis involving less than 50% of all glomeruli, typically with focal subendothelial immune deposits, with or without mesangial alterations\n", + " definition of HP:0033731 (Focal lupus nephritis)\n", + " \n", + " \n", + " #Class III lupus nephritis\n", + " definition of HP:0033731 (Focal lupus nephritis)\n", + " \n", + " \n", + " Abnormal high-mannose N-glycan level\n", + " definition of HP:0410356 (Abnormal high-mannose N-glycan level)\n", + " \n", + " \n", + " An abnormal concentration of high-mannose N-glycans on glycoproteins.\n", + " definition of HP:0410356 (Abnormal high-mannose N-glycan level)\n", + " \n", + " \n", + " #Abnormal high-mannose N-glycans on glycoprotein concentration\n", + " definition of HP:0410356 (Abnormal high-mannose N-glycan level)\n", + " \n", + " \n", + " Aprosencephaly\n", + " definition of HP:0007268 (Aprosencephaly)\n", + " \n", + " \n", + " Partial duplication of the middle phalanx of the 3rd toe\n", + " definition of HP:0100419 (Partial duplication of the middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " Partial duplication of middle phalanx of third toe.\n", + " definition of HP:0100419 (Partial duplication of the middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Partial duplication of the middle bone of 3rd toe #Partial duplication of the middle phalanx of the third toe\n", + " definition of HP:0100419 (Partial duplication of the middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " Severe expressive language delay\n", + " definition of HP:0006863 (Severe expressive language delay)\n", + " \n", + " \n", + " A severe delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.\n", + " definition of HP:0006863 (Severe expressive language delay)\n", + " \n", + " \n", + " Anti-asialoglycoprotein receptor antibody positivity\n", + " definition of HP:0032469 (Anti-asialoglycoprotein receptor antibody positivity)\n", + " \n", + " \n", + " Presence of autoantibodies against the asialoglycoprotein receptor (ASGPR) in the blood circulation.\n", + " definition of HP:0032469 (Anti-asialoglycoprotein receptor antibody positivity)\n", + " \n", + " \n", + " Phosphaturic mesenchymal tumor\n", + " definition of HP:0033987 (Phosphaturic mesenchymal tumor)\n", + " \n", + " \n", + " A rare, endocrine active tumor that causes severe renal phosphate wasting, which in turn can lead to critical osteomalacia. Phosphaturic mesenchymal tumors (PMTs) are typically small and mostly benign tumors producing fibroblast growth factor 23 (FGF-23). FGF-23 lowers the expression of sodium/phosphate cotransporters, which are the primary transport proteins responsible for phosphate reabsorption in the kidneys. The paraneoplastic overproduction of FGF-23 lowers reabsorption of phosphate and causes severe paraneoplastic renal phosphate wasting and hypophosphatemia. FGF-23 also affects vitamin D levels by lowering 25-hydroxyvitamin D 1-alpha-hydroxylase in the proximal renal tubules and by increasing the expression of vitamin D 24-hydroxylase, a mitochondrial enzyme responsible for inactivating vitamin D metabolites.\n", + " definition of HP:0033987 (Phosphaturic mesenchymal tumor)\n", + " \n", + " \n", + " Atrioventricular canal defect\n", + " definition of HP:0006695 (Atrioventricular canal defect)\n", + " \n", + " \n", + " A defect of the atrioventricular septum of the heart.\n", + " definition of HP:0006695 (Atrioventricular canal defect)\n", + " \n", + " \n", + " #Atrioventricular septal defect #Endocardial cushion defect\n", + " definition of HP:0006695 (Atrioventricular canal defect)\n", + " \n", + " \n", + " Increased CSF glycine concentration\n", + " definition of HP:0500230 (Increased CSF glycine concentration)\n", + " \n", + " \n", + " Abnormally increased levels of glycine in cerebrospinal fluid.\n", + " definition of HP:0500230 (Increased CSF glycine concentration)\n", + " \n", + " \n", + " #High glycine levels in cerebrospinal fluid\n", + " definition of HP:0500230 (Increased CSF glycine concentration)\n", + " \n", + " \n", + " Hyperpigmentation of eyelids\n", + " definition of HP:0007406 (Hyperpigmentation of eyelids)\n", + " \n", + " \n", + " #Dark eyelids\n", + " definition of HP:0007406 (Hyperpigmentation of eyelids)\n", + " \n", + " \n", + " Osteolytic defects of the middle phalanx of the 3rd finger\n", + " definition of HP:0009433 (Osteolytic defects of the middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " Dissolution or degeneration of bone tissue of the middle phalanx of the 3rd finger.\n", + " definition of HP:0009433 (Osteolytic defects of the middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " Nasal secretion neutrophilia\n", + " definition of HP:0430120 (Nasal secretion neutrophilia)\n", + " \n", + " \n", + " Count of neutrophils in nasal secretions (for instance, nasal discharge) above the upper limit of normal.\n", + " definition of HP:0430120 (Nasal secretion neutrophilia)\n", + " \n", + " \n", + " Abnormal left ventricular outflow tract morphology\n", + " definition of HP:0011103 (Abnormal left ventricular outflow tract morphology)\n", + " \n", + " \n", + " An abnormality of the outflow tract of the left ventricle.\n", + " definition of HP:0011103 (Abnormal left ventricular outflow tract morphology)\n", + " \n", + " \n", + " #Abnormality of the left ventricular outflow tract\n", + " definition of HP:0011103 (Abnormal left ventricular outflow tract morphology)\n", + " \n", + " \n", + " Granulomatous arteriolitis of the arteriolar intima/media\n", + " definition of HP:0033941 (Granulomatous arteriolitis of the arteriolar intima/media)\n", + " \n", + " \n", + " A type of renal intimal/medial arteriolitis characteriezed by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries.\n", + " definition of HP:0033941 (Granulomatous arteriolitis of the arteriolar intima/media)\n", + " \n", + " \n", + " #Granulomatous arteriolitis within arteriolar intima/media\n", + " definition of HP:0033941 (Granulomatous arteriolitis of the arteriolar intima/media)\n", + " \n", + " \n", + " Aplasia of the distal phalanx of the 4th finger\n", + " definition of HP:0009291 (Aplasia of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " Absence of the distal phalanx of the ring (4th) finger.\n", + " definition of HP:0009291 (Aplasia of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " #Absent outermost bone of ring finger\n", + " definition of HP:0009291 (Aplasia of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " Abnormal circulating glycerol level\n", + " definition of HP:0031795 (Abnormal circulating glycerol level)\n", + " \n", + " \n", + " Any deviation from the normal concentration of glycerol in the blood.\n", + " definition of HP:0031795 (Abnormal circulating glycerol level)\n", + " \n", + " \n", + " Cortical thickening of humeral diaphysis\n", + " definition of HP:0003928 (Cortical thickening of humeral diaphysis)\n", + " \n", + " \n", + " Left superior vena cava draining to coronary sinus\n", + " definition of HP:0011670 (Left superior vena cava draining to coronary sinus)\n", + " \n", + " \n", + " A persistent left superior vena cava (PLSVC) that drains into the right atrium via the coronary sinus. This is the case in 80-92% of cases of PLSVC and results in no hemodynamic consequence.\n", + " definition of HP:0011670 (Left superior vena cava draining to coronary sinus)\n", + " \n", + " \n", + " Axillary epidermoid cyst\n", + " definition of HP:0012540 (Axillary epidermoid cyst)\n", + " \n", + " \n", + " An epidermoid cyst in the armpit.\n", + " definition of HP:0012540 (Axillary epidermoid cyst)\n", + " \n", + " \n", + " #Armpit cyst\n", + " definition of HP:0012540 (Axillary epidermoid cyst)\n", + " \n", + " \n", + " Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis\n", + " definition of HP:0011656 (Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis)\n", + " \n", + " \n", + " A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the aortic origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.\n", + " definition of HP:0011656 (Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis)\n", + " \n", + " \n", + " #DORV with subaortic VSD without pulmonary stenosis\n", + " definition of HP:0011656 (Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis)\n", + " \n", + " \n", + " Z-band streaming\n", + " definition of HP:0020203 (Z-band streaming)\n", + " \n", + " \n", + " Streaming or smearing of the Z band, which is then no longer confined to a narrow zone which bisects the I band. The Z disk may extend across the I band or the entire sarcomere in a zigzag manner. Focal thickening, smudging, and blurring of the Z band takes place concurrently. Myofibrillar disorganization is a frequent but not invariable accompanying change.\n", + " definition of HP:0020203 (Z-band streaming)\n", + " \n", + " \n", + " Iridocyclitis\n", + " definition of HP:0001094 (Iridocyclitis)\n", + " \n", + " \n", + " A type of anterior uveitis, in which there is Inflammation of the iris and the ciliary body.\n", + " definition of HP:0001094 (Iridocyclitis)\n", + " \n", + " \n", + " Antidromic atrioventricular reentrant tachycardia\n", + " definition of HP:0031674 (Antidromic atrioventricular reentrant tachycardia)\n", + " \n", + " \n", + " A type of atrioventricular reentrant tachycardia (AVRT) where the accessory pathway is used for anterograde conduction and the atrioventricular node for retrograde conduction.\n", + " definition of HP:0031674 (Antidromic atrioventricular reentrant tachycardia)\n", + " \n", + " \n", + " #Antidromic AVRT\n", + " definition of HP:0031674 (Antidromic atrioventricular reentrant tachycardia)\n", + " \n", + " \n", + " Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine\n", + " definition of HP:0410305 (Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine)\n", + " \n", + " \n", + " A reduced ability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination.\n", + " definition of HP:0410305 (Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine)\n", + " \n", + " \n", + " Neoplasm of striated muscle\n", + " definition of HP:0009728 (Neoplasm of striated muscle)\n", + " \n", + " \n", + " A benign or malignant neoplasm (tumor) originating in striated muscle, either skeletal muscle or cardiac muscle.\n", + " definition of HP:0009728 (Neoplasm of striated muscle)\n", + " \n", + " \n", + " #Tumors of striated muscle #Tumours of striated muscle\n", + " definition of HP:0009728 (Neoplasm of striated muscle)\n", + " \n", + " \n", + " Inability to protrude lips\n", + " definition of HP:6001010 (Inability to protrude lips)\n", + " \n", + " \n", + " Lack of ability to purse or pucker the lips.\n", + " definition of HP:6001010 (Inability to protrude lips)\n", + " \n", + " \n", + " Abnormal CD69 upregulation upon TCR activation\n", + " definition of HP:0031267 (Abnormal CD69 upregulation upon TCR activation)\n", + " \n", + " \n", + " Any abnormality in the upregulation of CD69 on T cells after activation via the T cell receptor (TCR). Upregulation of CD69 is one of the earliest and most sensitive measures of antigen recognition in the periphery, and transient expression of CD69 is associated with positive selection in the thymus.\n", + " definition of HP:0031267 (Abnormal CD69 upregulation upon TCR activation)\n", + " \n", + " \n", + " Episodic abdominal pain\n", + " definition of HP:0002574 (Episodic abdominal pain)\n", + " \n", + " \n", + " An intermittent form of abdominal pain.\n", + " definition of HP:0002574 (Episodic abdominal pain)\n", + " \n", + " \n", + " Toenail onycholysis\n", + " definition of HP:0040040 (Toenail onycholysis)\n", + " \n", + " \n", + " Painless and spontaneous separation of a toenail from the nail bed.\n", + " definition of HP:0040040 (Toenail onycholysis)\n", + " \n", + " \n", + " #Detachment of toenails #Onycholysis of toenails\n", + " definition of HP:0040040 (Toenail onycholysis)\n", + " \n", + " \n", + " Abnormal epidermal protein expression\n", + " definition of HP:0034573 (Abnormal epidermal protein expression)\n", + " \n", + " \n", + " Elevated placental alkaline phosphatase\n", + " definition of HP:0010682 (Elevated placental alkaline phosphatase)\n", + " \n", + " \n", + " An abnormally increased level of alkaline phosphatase, placental type in the blood.\n", + " definition of HP:0010682 (Elevated placental alkaline phosphatase)\n", + " \n", + " \n", + " #Elevated placental ALP\n", + " definition of HP:0010682 (Elevated placental alkaline phosphatase)\n", + " \n", + " \n", + " Nasal septum perforation\n", + " definition of HP:0033434 (Nasal septum perforation)\n", + " \n", + " \n", + " A full-thickness defect of the nasal septum.\n", + " definition of HP:0033434 (Nasal septum perforation)\n", + " \n", + " \n", + " #Nasal-septum perforation #Perforation of the nasal septum\n", + " definition of HP:0033434 (Nasal septum perforation)\n", + " \n", + " \n", + " Cellular non-specific interstitial pneumonia\n", + " definition of HP:0033586 (Cellular non-specific interstitial pneumonia)\n", + " \n", + " \n", + " A type of non-specific interstitial pneumonia in which interstitial thickening is mainly due to infiltration of inflammatory cells and type II pneumocyte hyperplasia.\n", + " definition of HP:0033586 (Cellular non-specific interstitial pneumonia)\n", + " \n", + " \n", + " Lipoatrophy\n", + " definition of HP:0100578 (Lipoatrophy)\n", + " \n", + " \n", + " Localized loss of fat tissue.\n", + " definition of HP:0100578 (Lipoatrophy)\n", + " \n", + " \n", + " #Atrophy of fat #Loss of fat tissue in localised area #Loss of fat tissue in localized area\n", + " definition of HP:0100578 (Lipoatrophy)\n", + " \n", + " \n", + " Bilateral\n", + " definition of HP:0012832 (Bilateral)\n", + " \n", + " \n", + " Being present on both sides of the body.\n", + " definition of HP:0012832 (Bilateral)\n", + " \n", + " \n", + " Testicular dysgenesis\n", + " definition of HP:0008715 (Testicular dysgenesis)\n", + " \n", + " \n", + " Abnormal arm span\n", + " definition of HP:0012769 (Abnormal arm span)\n", + " \n", + " \n", + " A deviation from normal of the length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle)\n", + " definition of HP:0012769 (Abnormal arm span)\n", + " \n", + " \n", + " #Abnormal arm span\n", + " definition of HP:0012769 (Abnormal arm span)\n", + " \n", + " \n", + " 4-5 toe cutaneous syndactyly\n", + " definition of HP:6000503 (4-5 toe cutaneous syndactyly)\n", + " \n", + " \n", + " A soft tissue continuity in the anteroposterior axis between the toes 4 and 5.\n", + " definition of HP:6000503 (4-5 toe cutaneous syndactyly)\n", + " \n", + " \n", + " Hydroxyprolinuria\n", + " definition of HP:0003080 (Hydroxyprolinuria)\n", + " \n", + " \n", + " An increased concentration of 4-hydroxy-L-proline in the urine.\n", + " definition of HP:0003080 (Hydroxyprolinuria)\n", + " \n", + " \n", + " #Elevated urinary hydroxyproline\n", + " definition of HP:0003080 (Hydroxyprolinuria)\n", + " \n", + " \n", + " Palmar telangiectasia\n", + " definition of HP:0100869 (Palmar telangiectasia)\n", + " \n", + " \n", + " The presence of telangiectases on the skin of palm of hand.\n", + " definition of HP:0100869 (Palmar telangiectasia)\n", + " \n", + " \n", + " #Telangiectases of palms and soles #Teleangiectases of palms\n", + " definition of HP:0100869 (Palmar telangiectasia)\n", + " \n", + " \n", + " Cerumen abnormality\n", + " definition of HP:0030787 (Cerumen abnormality)\n", + " \n", + " \n", + " Any anomaly of the cerumen (ear wax), the yellowish waxy substance secreted in the ear canal.\n", + " definition of HP:0030787 (Cerumen abnormality)\n", + " \n", + " \n", + " Hooded lower eyelid\n", + " definition of HP:0030821 (Hooded lower eyelid)\n", + " \n", + " \n", + " Lower eyelid partly covered by skin when eyes are open.\n", + " definition of HP:0030821 (Hooded lower eyelid)\n", + " \n", + " \n", + " Intercostal retractions\n", + " definition of HP:0030864 (Intercostal retractions)\n", + " \n", + " \n", + " A pulling inward of the soft tissues between the ribs upon inhalation. This is a sign of increased use of the chest muscles for breathing and is a manifestation of respiratory distress.\n", + " definition of HP:0030864 (Intercostal retractions)\n", + " \n", + " \n", + " #Chest retractions\n", + " definition of HP:0030864 (Intercostal retractions)\n", + " \n", + " \n", + " Severe cytomegalovirus infection\n", + " definition of HP:0031692 (Severe cytomegalovirus infection)\n", + " \n", + " \n", + " An unusually severe infection by cytomegalovirus.\n", + " definition of HP:0031692 (Severe cytomegalovirus infection)\n", + " \n", + " \n", + " Altman type III sacrococcygeal teratoma\n", + " definition of HP:0030739 (Altman type III sacrococcygeal teratoma)\n", + " \n", + " \n", + " A type of sacrococcygeal teratoma that is predominantly intrapelvic with a small external, buttock mass.\n", + " definition of HP:0030739 (Altman type III sacrococcygeal teratoma)\n", + " \n", + " \n", + " Small trapezium\n", + " definition of HP:0004255 (Small trapezium)\n", + " \n", + " \n", + " Underdevelopment of the trapezium.\n", + " definition of HP:0004255 (Small trapezium)\n", + " \n", + " \n", + " Osteolytic defects of the middle phalanges of the toes\n", + " definition of HP:0010198 (Osteolytic defects of the middle phalanges of the toes)\n", + " \n", + " \n", + " Inlet ventricular septal defect\n", + " definition of HP:0011622 (Inlet ventricular septal defect)\n", + " \n", + " \n", + " A ventricular septal defect that involves the inlet of the right ventricular septum immediately inferior to the AV valve apparatus.\n", + " definition of HP:0011622 (Inlet ventricular septal defect)\n", + " \n", + " \n", + " #Atrioventricular canal type ventricular septal defect #Type 3 ventricular septal defect\n", + " definition of HP:0011622 (Inlet ventricular septal defect)\n", + " \n", + " \n", + " Decreased pre-bronchodilator forced vital capacity\n", + " definition of HP:0032356 (Decreased pre-bronchodilator forced vital capacity)\n", + " \n", + " \n", + " An abnormal reduction in the amount of air a person can expel following maximal insipiration, with the test being performed before the administration of a bronchodilating medication.\n", + " definition of HP:0032356 (Decreased pre-bronchodilator forced vital capacity)\n", + " \n", + " \n", + " #Decreased pre bronchodilator forced vital capacity #Decreased prebronchodilator forced vital capacity\n", + " definition of HP:0032356 (Decreased pre-bronchodilator forced vital capacity)\n", + " \n", + " \n", + " Elevated aortic transvalvular pressure gradient\n", + " definition of HP:6000226 (Elevated aortic transvalvular pressure gradient)\n", + " \n", + " \n", + " The gradient (in this case, drop) in pressure across the aortic valve is above the upper limit of normal.\n", + " definition of HP:6000226 (Elevated aortic transvalvular pressure gradient)\n", + " \n", + " \n", + " Proximal symphalangism\n", + " definition of HP:0100264 (Proximal symphalangism)\n", + " \n", + " \n", + " #Cushing's symphalangism\n", + " definition of HP:0100264 (Proximal symphalangism)\n", + " \n", + " \n", + " Focal aware pedal automatism seizure\n", + " definition of HP:0032913 (Focal aware pedal automatism seizure)\n", + " \n", + " \n", + " A type of focal automatism seizure characterized by coordinated bilateral or unilateral movements of the feet or legs at onset and during which awareness is fully retained throughout. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs.\n", + " definition of HP:0032913 (Focal aware pedal automatism seizure)\n", + " \n", + " \n", + " Decreased waist to hip ratio\n", + " definition of HP:0031820 (Decreased waist to hip ratio)\n", + " \n", + " \n", + " Decreased waist-to-hip ratio (WHR) is a measurement below the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement.\n", + " definition of HP:0031820 (Decreased waist to hip ratio)\n", + " \n", + " \n", + " #Decreased waist-hip ratio #Decreased waist-to-hip ratio #Decreased WHR\n", + " definition of HP:0031820 (Decreased waist to hip ratio)\n", + " \n", + " \n", + " Unilambdoid synostosis\n", + " definition of HP:0011320 (Unilambdoid synostosis)\n", + " \n", + " \n", + " Premature synostosis of only one lambdoid suture.\n", + " definition of HP:0011320 (Unilambdoid synostosis)\n", + " \n", + " \n", + " #Unilateral lambdoid craniosynostosis #Unilateral lambdoid suture synostosis\n", + " definition of HP:0011320 (Unilambdoid synostosis)\n", + " \n", + " \n", + " Congenital hydrocele\n", + " definition of HP:4000037 (Congenital hydrocele)\n", + " \n", + " \n", + " Congenital hydrocele occurs when processus vaginalis is patent and communicates with the peritoneal cavity. This communication allows the movement of peritoneal fluid but is too small to allow the intra-abdominal contents to herniate through.\n", + " definition of HP:4000037 (Congenital hydrocele)\n", + " \n", + " \n", + " Polysyndactyly of hallux\n", + " definition of HP:0005873 (Polysyndactyly of hallux)\n", + " \n", + " \n", + " Combined syndactyly and polydactyly of the great toe.\n", + " definition of HP:0005873 (Polysyndactyly of hallux)\n", + " \n", + " \n", + " #Polysyndactyly of big toe #Polysyndactyly of great toe\n", + " definition of HP:0005873 (Polysyndactyly of hallux)\n", + " \n", + " \n", + " Recurrent gingivitis\n", + " definition of HP:0034284 (Recurrent gingivitis)\n", + " \n", + " \n", + " Repeated occurrences of inflammatory condition of the gums (gingival tissue), most commonly caused by bacterial infection.\n", + " definition of HP:0034284 (Recurrent gingivitis)\n", + " \n", + " \n", + " Neutrophilia\n", + " definition of HP:0011897 (Neutrophilia)\n", + " \n", + " \n", + " Increased number of neutrophils circulating in blood.\n", + " definition of HP:0011897 (Neutrophilia)\n", + " \n", + " \n", + " #Increased blood neutrophil counts\n", + " definition of HP:0011897 (Neutrophilia)\n", + " \n", + " \n", + " Dysmyelinating leukodystrophy\n", + " definition of HP:0006978 (Dysmyelinating leukodystrophy)\n", + " \n", + " \n", + " Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena\n", + " definition of HP:0032785 (Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena)\n", + " \n", + " \n", + " A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by retained awareness throughout the seizure.\n", + " definition of HP:0032785 (Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena)\n", + " \n", + " \n", + " Ventricular escape rhythm\n", + " definition of HP:0005155 (Ventricular escape rhythm)\n", + " \n", + " \n", + " A ventricular escape rhythm occurs whenever higher-lever pacemakers in AV junction or sinus node fail to control ventricular activation. Escape rate is usually 20-40 bpm, often associated with broad QRS complexes (at least 120 ms).\n", + " definition of HP:0005155 (Ventricular escape rhythm)\n", + " \n", + " \n", + " #Idioventricular escape rhythm\n", + " definition of HP:0005155 (Ventricular escape rhythm)\n", + " \n", + " \n", + " Lactic acidosis\n", + " definition of HP:0003128 (Lactic acidosis)\n", + " \n", + " \n", + " An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.\n", + " definition of HP:0003128 (Lactic acidosis)\n", + " \n", + " \n", + " #Hyperlacticacidemia #Increased lactate in body #Lactic acidemia #Lacticacidemia #Lacticacidosis\n", + " definition of HP:0003128 (Lactic acidosis)\n", + " \n", + " \n", + " Loss of voice\n", + " definition of HP:0001686 (Loss of voice)\n", + " \n", + " \n", + " #Aphonia\n", + " definition of HP:0001686 (Loss of voice)\n", + " \n", + " \n", + " Abnormal vagina morphology\n", + " definition of HP:0000142 (Abnormal vagina morphology)\n", + " \n", + " \n", + " Any structural abnormality of the vagina.\n", + " definition of HP:0000142 (Abnormal vagina morphology)\n", + " \n", + " \n", + " #Vaginal malformation\n", + " definition of HP:0000142 (Abnormal vagina morphology)\n", + " \n", + " \n", + " Deviation of the 2nd finger\n", + " definition of HP:0009468 (Deviation of the 2nd finger)\n", + " \n", + " \n", + " Displacement of the 2nd finger from its normal position.\n", + " definition of HP:0009468 (Deviation of the 2nd finger)\n", + " \n", + " \n", + " #Deviated index finger #Displaced index finger\n", + " definition of HP:0009468 (Deviation of the 2nd finger)\n", + " \n", + " \n", + " Anterior rib punctate calcifications\n", + " definition of HP:0006619 (Anterior rib punctate calcifications)\n", + " \n", + " \n", + " Deposition of calcium salts in point-like foci within the anterior portion of one or more ribs.\n", + " definition of HP:0006619 (Anterior rib punctate calcifications)\n", + " \n", + " \n", + " Medial widening of clavicles\n", + " definition of HP:0006599 (Medial widening of clavicles)\n", + " \n", + " \n", + " Histoplasmosis\n", + " definition of HP:0032256 (Histoplasmosis)\n", + " \n", + " \n", + " Histoplasmosis is caused by the fungus Histoplasma capsulatum and is consider to be an opportunistic infection in immunosuppressed persons.\n", + " definition of HP:0032256 (Histoplasmosis)\n", + " \n", + " \n", + " Reduced circulating xanthine oxidase activity\n", + " definition of HP:6000218 (Reduced circulating xanthine oxidase activity)\n", + " \n", + " \n", + " Activity of the enzyme xanthine oxidase (EC 1.17.3.2) below the lower limit of normal.\n", + " definition of HP:6000218 (Reduced circulating xanthine oxidase activity)\n", + " \n", + " \n", + " #Xanthine oxidase low\n", + " definition of HP:6000218 (Reduced circulating xanthine oxidase activity)\n", + " \n", + " \n", + " Branch retinal vein occlusion\n", + " definition of HP:0020165 (Branch retinal vein occlusion)\n", + " \n", + " \n", + " Blockage of a branch of the retinal vein. It may present with sudden-onset of painless vision loss or visual field defect correlating to the area of perfusion of the obstructed vessels.\n", + " definition of HP:0020165 (Branch retinal vein occlusion)\n", + " \n", + " \n", + " Cutaneous sclerotic plaque\n", + " definition of HP:0031359 (Cutaneous sclerotic plaque)\n", + " \n", + " \n", + " A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter that is characterized by hardening (sclerosis) of the affected skin area (related to collagen thickening).\n", + " definition of HP:0031359 (Cutaneous sclerotic plaque)\n", + " \n", + " \n", + " Renal sarcoma\n", + " definition of HP:0008663 (Renal sarcoma)\n", + " \n", + " \n", + " A sarcoma of the kidney.\n", + " definition of HP:0008663 (Renal sarcoma)\n", + " \n", + " \n", + " Confusion\n", + " definition of HP:0001289 (Confusion)\n", + " \n", + " \n", + " Lack of clarity and coherence of thought, perception, understanding, or action.\n", + " definition of HP:0001289 (Confusion)\n", + " \n", + " \n", + " #Confusion #Disorientation #Easily confused #Mental disorientation\n", + " definition of HP:0001289 (Confusion)\n", + " \n", + " \n", + " Attached earlobe\n", + " definition of HP:0009907 (Attached earlobe)\n", + " \n", + " \n", + " Attachment of the lobe to the side of the face at the lowest point of the lobe without curving upward.\n", + " definition of HP:0009907 (Attached earlobe)\n", + " \n", + " \n", + " #Adherent earlobe #Attached earlobe\n", + " definition of HP:0009907 (Attached earlobe)\n", + " \n", + " \n", + " Polyarticular arthritis\n", + " definition of HP:0005764 (Polyarticular arthritis)\n", + " \n", + " \n", + " Reduced epidermal collagen IV protein expression\n", + " definition of HP:0034575 (Reduced epidermal collagen IV protein expression)\n", + " \n", + " \n", + " #Skin biopsy: collagen IV antibody staining abnormal or absent\n", + " definition of HP:0034575 (Reduced epidermal collagen IV protein expression)\n", + " \n", + " \n", + " Central hypothyroidism\n", + " definition of HP:0011787 (Central hypothyroidism)\n", + " \n", + " \n", + " A type of hypothyroidism due to an insufficient stimulation of an otherwise normal thyroid gland. Central hypothyroidism is caused by either pituitary (secondary hypothyroidism) or hypothalamic (tertiary hypothyroidism) defects.\n", + " definition of HP:0011787 (Central hypothyroidism)\n", + " \n", + " \n", + " Increased female libido\n", + " definition of HP:0030019 (Increased female libido)\n", + " \n", + " \n", + " Elevated sexual desire in female\n", + " definition of HP:0030019 (Increased female libido)\n", + " \n", + " \n", + " #Increased female sex drive\n", + " definition of HP:0030019 (Increased female libido)\n", + " \n", + " \n", + " Increased circulating chylomicron concentration\n", + " definition of HP:0012238 (Increased circulating chylomicron concentration)\n", + " \n", + " \n", + " Increased plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins.\n", + " definition of HP:0012238 (Increased circulating chylomicron concentration)\n", + " \n", + " \n", + " #Hyperchylomicronemia #Increased chylomicrons #Increased circulating chylomicron levels\n", + " definition of HP:0012238 (Increased circulating chylomicron concentration)\n", + " \n", + " \n", + " Abnormal timing of light-adapted single flash electroretinogram\n", + " definition of HP:0030482 (Abnormal timing of light-adapted single flash electroretinogram)\n", + " \n", + " \n", + " Broad phalanges of the 4th toe\n", + " definition of HP:0010372 (Broad phalanges of the 4th toe)\n", + " \n", + " \n", + " #Broad bones of the 4th toe\n", + " definition of HP:0010372 (Broad phalanges of the 4th toe)\n", + " \n", + " \n", + " Bracket epiphyses of the 5th toe\n", + " definition of HP:0100078 (Bracket epiphyses of the 5th toe)\n", + " \n", + " \n", + " #Bracket shaped end part of little toe bone #Bracket shaped end part of pinkie toe bone #Bracket shaped end part of pinky toe bone\n", + " definition of HP:0100078 (Bracket epiphyses of the 5th toe)\n", + " \n", + " \n", + " Premature separation of centromeric heterochromatin\n", + " definition of HP:0003616 (Premature separation of centromeric heterochromatin)\n", + " \n", + " \n", + " Nodular subcortical heterotopia in peritrigonal regions\n", + " definition of HP:0032392 (Nodular subcortical heterotopia in peritrigonal regions)\n", + " \n", + " \n", + " Solid nodular heterotopia situated in the region of the peritrigonal optic pathway posterior to the deep gray nuclei.\n", + " definition of HP:0032392 (Nodular subcortical heterotopia in peritrigonal regions)\n", + " \n", + " \n", + " Decreased CSF N-acetyl-aspartyl-glutamate concentration\n", + " definition of HP:6000765 (Decreased CSF N-acetyl-aspartyl-glutamate concentration)\n", + " \n", + " \n", + " The concentration of N-acetyl-aspartyl-glutamate (NAAG) in the cerebrospinal fluid (CSF) is below the lower limit of normal.\n", + " definition of HP:6000765 (Decreased CSF N-acetyl-aspartyl-glutamate concentration)\n", + " \n", + " \n", + " Chest pain described as ripping or tearing\n", + " definition of HP:6000049 (Chest pain described as ripping or tearing)\n", + " \n", + " \n", + " Chest pain described as a tearing or ripping sensation.\n", + " definition of HP:6000049 (Chest pain described as ripping or tearing)\n", + " \n", + " \n", + " Reduced thyroxin-binding globulin\n", + " definition of HP:0012509 (Reduced thyroxin-binding globulin)\n", + " \n", + " \n", + " An abnormally decreased amount of thyroxin-binding globulin (TBG) in blood. TBG is responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3'-triiodothyronine (T3) in the bloodstream.\n", + " definition of HP:0012509 (Reduced thyroxin-binding globulin)\n", + " \n", + " \n", + " Elevated CSF gamma-aminobutyric acid concentration\n", + " definition of HP:0032531 (Elevated CSF gamma-aminobutyric acid concentration)\n", + " \n", + " \n", + " #Gamma-aminobutyric acid (GABA) high in CSF\n", + " definition of HP:0032531 (Elevated CSF gamma-aminobutyric acid concentration)\n", + " \n", + " \n", + " Increased mid-arm muscle circumference\n", + " definition of HP:0033448 (Increased mid-arm muscle circumference)\n", + " \n", + " \n", + " Elevation of the midupper arm circumference midway between the acromion and olecranon processes of the ulna with the use of a steel or fiberglass tape. This measure is a proxy for the muscle mass of the upper arm and can be used as a part of the assessment of nutritional status in children.\n", + " definition of HP:0033448 (Increased mid-arm muscle circumference)\n", + " \n", + " \n", + " Reduced circulating 3-hydroxyisobutyryl-CoA hydrolase activity\n", + " definition of HP:6000215 (Reduced circulating 3-hydroxyisobutyryl-CoA hydrolase activity)\n", + " \n", + " \n", + " The activity of 3-hydroxyisobutyryl-CoA hydrolase in the blood corculation is below the lower limit of normal.\n", + " definition of HP:6000215 (Reduced circulating 3-hydroxyisobutyryl-CoA hydrolase activity)\n", + " \n", + " \n", + " #3-hydroxyisobutyryl-CoA hydrolase deficiency\n", + " definition of HP:6000215 (Reduced circulating 3-hydroxyisobutyryl-CoA hydrolase activity)\n", + " \n", + " \n", + " Parachute mitral valve\n", + " definition of HP:0011571 (Parachute mitral valve)\n", + " \n", + " \n", + " Abnormality of the mitral valve apparatus, whereby chordae attach to a single papillary muscle or hypoplastic papillary muscles.\n", + " definition of HP:0011571 (Parachute mitral valve)\n", + " \n", + " \n", + " Elevated urinary mandelic acid\n", + " definition of HP:6000999 (Elevated urinary mandelic acid)\n", + " \n", + " \n", + " The amount of mandelic acid in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000999 (Elevated urinary mandelic acid)\n", + " \n", + " \n", + " Factor XIII subunit A deficiency\n", + " definition of HP:0040233 (Factor XIII subunit A deficiency)\n", + " \n", + " \n", + " Deficiency of factor XIII subunit A, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot.\n", + " definition of HP:0040233 (Factor XIII subunit A deficiency)\n", + " \n", + " \n", + " #Reduced factor XIII, subunit A\n", + " definition of HP:0040233 (Factor XIII subunit A deficiency)\n", + " \n", + " \n", + " Lumbar hypertrichosis\n", + " definition of HP:0011913 (Lumbar hypertrichosis)\n", + " \n", + " \n", + " Excessive, increased hair growth located in the lumbar region.\n", + " definition of HP:0011913 (Lumbar hypertrichosis)\n", + " \n", + " \n", + " Enlargement of the ankles\n", + " definition of HP:0003029 (Enlargement of the ankles)\n", + " \n", + " \n", + " #Enlargement of the ankles\n", + " definition of HP:0003029 (Enlargement of the ankles)\n", + " \n", + " \n", + " Myokymia\n", + " definition of HP:0002411 (Myokymia)\n", + " \n", + " \n", + " Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle.\n", + " definition of HP:0002411 (Myokymia)\n", + " \n", + " \n", + " Pseudoglioma\n", + " definition of HP:6000262 (Pseudoglioma)\n", + " \n", + " \n", + " A circumscribed whitish-yellow mass in the posterior chamber associated with retinal folds and sometimes retinal detachment and is said to resemble a retinal glioma.\n", + " definition of HP:6000262 (Pseudoglioma)\n", + " \n", + " \n", + " Bronchiolectasis\n", + " definition of HP:0410397 (Bronchiolectasis)\n", + " \n", + " \n", + " Saccular dilatation of the terminal bronchioles.\n", + " definition of HP:0410397 (Bronchiolectasis)\n", + " \n", + " \n", + " #Bronchiolectasia\n", + " definition of HP:0410397 (Bronchiolectasis)\n", + " \n", + " \n", + " Iris melanoma\n", + " definition of HP:0011524 (Iris melanoma)\n", + " \n", + " \n", + " Malignant tumor of melanocytes affecting the iris.\n", + " definition of HP:0011524 (Iris melanoma)\n", + " \n", + " \n", + " Progressive visual loss\n", + " definition of HP:0000529 (Progressive visual loss)\n", + " \n", + " \n", + " A reduction of previously attained ability to see.\n", + " definition of HP:0000529 (Progressive visual loss)\n", + " \n", + " \n", + " #Loss of visual acuity #Progressive loss of vision #Progressive vision loss #Progressive visual acuity loss #Progressive visual impairment #Slowly progressive visual loss #Vision loss, progressive #Visual loss, progressive\n", + " definition of HP:0000529 (Progressive visual loss)\n", + " \n", + " \n", + " Skin appendage neoplasm\n", + " definition of HP:0012842 (Skin appendage neoplasm)\n", + " \n", + " \n", + " A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands.\n", + " definition of HP:0012842 (Skin appendage neoplasm)\n", + " \n", + " \n", + " #Skin adnexal neoplasm #Skin adnexal tumor #Skin adnexal tumour\n", + " definition of HP:0012842 (Skin appendage neoplasm)\n", + " \n", + " \n", + " 1-minute APGAR score of 1\n", + " definition of HP:0030928 (1-minute APGAR score of 1)\n", + " \n", + " \n", + " Abnormal femoral neck/head morphology\n", + " definition of HP:0003366 (Abnormal femoral neck/head morphology)\n", + " \n", + " \n", + " #Abnormal neck or head of thigh bone #Abnormality of the femoral neck or head region\n", + " definition of HP:0003366 (Abnormal femoral neck/head morphology)\n", + " \n", + " \n", + " Ectopic adrenal gland\n", + " definition of HP:0011742 (Ectopic adrenal gland)\n", + " \n", + " \n", + " Abnormal anatomical location of the adrenal gland.\n", + " definition of HP:0011742 (Ectopic adrenal gland)\n", + " \n", + " \n", + " #Abnormal adrenal gland position\n", + " definition of HP:0011742 (Ectopic adrenal gland)\n", + " \n", + " \n", + " Reduced gamma-glutamyltransferase level\n", + " definition of HP:0034445 (Reduced gamma-glutamyltransferase level)\n", + " \n", + " \n", + " Decreased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues.\n", + " definition of HP:0034445 (Reduced gamma-glutamyltransferase level)\n", + " \n", + " \n", + " #Gamma-glutamyl transferase low in blood\n", + " definition of HP:0034445 (Reduced gamma-glutamyltransferase level)\n", + " \n", + " \n", + " Anal canal squamous carcinoma\n", + " definition of HP:0006763 (Anal canal squamous carcinoma)\n", + " \n", + " \n", + " Midface capillary hemangioma\n", + " definition of HP:0007452 (Midface capillary hemangioma)\n", + " \n", + " \n", + " #Midfacial capillary hemangioma\n", + " definition of HP:0007452 (Midface capillary hemangioma)\n", + " \n", + " \n", + " Abnormal cardiac test\n", + " definition of HP:0500015 (Abnormal cardiac test)\n", + " \n", + " \n", + " Abnormal test result of cardiovascular physiology.\n", + " definition of HP:0500015 (Abnormal cardiac test)\n", + " \n", + " \n", + " Pulsus paradoxus\n", + " definition of HP:6000046 (Pulsus paradoxus)\n", + " \n", + " \n", + " Pulsus paradoxus refers to a systolic pressure drop greater than 10mmHg during inspiration.\n", + " definition of HP:6000046 (Pulsus paradoxus)\n", + " \n", + " \n", + " #Kussmaul pulse #Paradoxical pulse #Paradoxical pulse volume\n", + " definition of HP:6000046 (Pulsus paradoxus)\n", + " \n", + " \n", + " Abnormal metaphysis morphology\n", + " definition of HP:0000944 (Abnormal metaphysis morphology)\n", + " \n", + " \n", + " An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.\n", + " definition of HP:0000944 (Abnormal metaphysis morphology)\n", + " \n", + " \n", + " #Abnormality of the wide portion of a long bone\n", + " definition of HP:0000944 (Abnormal metaphysis morphology)\n", + " \n", + " \n", + " High-set nipples\n", + " definition of HP:6000229 (High-set nipples)\n", + " \n", + " \n", + " Placement of the nipples at a higher than normal location.\n", + " definition of HP:6000229 (High-set nipples)\n", + " \n", + " \n", + " Complete duplication of the phalanges of the 3rd finger\n", + " definition of HP:0009960 (Complete duplication of the phalanges of the 3rd finger)\n", + " \n", + " \n", + " A complete duplication affecting one or more of the phalanges of the 3rd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.\n", + " definition of HP:0009960 (Complete duplication of the phalanges of the 3rd finger)\n", + " \n", + " \n", + " #Complete duplication of middle finger bones\n", + " definition of HP:0009960 (Complete duplication of the phalanges of the 3rd finger)\n", + " \n", + " \n", + " Abnormal renal echogenicity\n", + " definition of HP:0033130 (Abnormal renal echogenicity)\n", + " \n", + " \n", + " Anomalous echogenicity of the kidney on ultrasound examination.\n", + " definition of HP:0033130 (Abnormal renal echogenicity)\n", + " \n", + " \n", + " Fractured middle phalanx of pes\n", + " definition of HP:0041175 (Fractured middle phalanx of pes)\n", + " \n", + " \n", + " A partial or complete breakage of the middle phalanx of pes.\n", + " definition of HP:0041175 (Fractured middle phalanx of pes)\n", + " \n", + " \n", + " #bone middle phalanx of pes\n", + " definition of HP:0041175 (Fractured middle phalanx of pes)\n", + " \n", + " \n", + " Precocious atherosclerosis\n", + " definition of HP:0004416 (Precocious atherosclerosis)\n", + " \n", + " \n", + " #Premature atherosclerosis\n", + " definition of HP:0004416 (Precocious atherosclerosis)\n", + " \n", + " \n", + " Delusion of guilt\n", + " definition of HP:0025791 (Delusion of guilt)\n", + " \n", + " \n", + " Delusional belief of one's personal guilt for an event, real or imagined, and that one caused an outcome that is somehow catastrophic. It is generally impossible or fantastical that this could have happened in the manner believed by the person, that they were somehow responsible for an event despite not be anywhere near where it allegedly occurred.\n", + " definition of HP:0025791 (Delusion of guilt)\n", + " \n", + " \n", + " Increased proportion of exhausted T cells\n", + " definition of HP:0031514 (Increased proportion of exhausted T cells)\n", + " \n", + " \n", + " An abnormally elevated proportion of exhausted T cells (Tex) among circulating T cells. T cell exhaustion is a distinct differentiation state that can be distinguished from naive, effector, and memory T cells. Compared to effector (TE) and memory (TMEM) T cells, exhausted T cells (TEX) display impaired effector functions (e.g., rapid production of effector cytokines, cytotoxicity). TEX have limited proliferative potential, especially compared to some subsets of TMEM and naive T cells.\n", + " definition of HP:0031514 (Increased proportion of exhausted T cells)\n", + " \n", + " \n", + " Anti-GD1b IgM antibody positivity\n", + " definition of HP:0034125 (Anti-GD1b IgM antibody positivity)\n", + " \n", + " \n", + " The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside.\n", + " definition of HP:0034125 (Anti-GD1b IgM antibody positivity)\n", + " \n", + " \n", + " Visually-induced seizure\n", + " definition of HP:0020216 (Visually-induced seizure)\n", + " \n", + " \n", + " Seizures evoked by visual stimuli. This includes clinical seizures induced by strobe lighting, television and other screens, flickering environmental lighting and self-induction by causing a strobe effect.\n", + " definition of HP:0020216 (Visually-induced seizure)\n", + " \n", + " \n", + " #Photosensitive seizure\n", + " definition of HP:0020216 (Visually-induced seizure)\n", + " \n", + " \n", + " Agenesis of permanent mandibular lateral incisor\n", + " definition of HP:0200158 (Agenesis of permanent mandibular lateral incisor)\n", + " \n", + " \n", + " #Failure of development of permanent mandibular lateral incisor\n", + " definition of HP:0200158 (Agenesis of permanent mandibular lateral incisor)\n", + " \n", + " \n", + " Epidermal hyperkeratosis\n", + " definition of HP:0007543 (Epidermal hyperkeratosis)\n", + " \n", + " \n", + " #Increased thickness of skin epidermis\n", + " definition of HP:0007543 (Epidermal hyperkeratosis)\n", + " \n", + " \n", + " Costal cartilage calcification\n", + " definition of HP:0006646 (Costal cartilage calcification)\n", + " \n", + " \n", + " Calcification of the costal cartilages, which are bars of hyaline cartilage found at the anterior ends of the ribs which serve to prolong the ribs forward and contribute to the elasticity of the walls of the thorax.\n", + " definition of HP:0006646 (Costal cartilage calcification)\n", + " \n", + " \n", + " #Cartilaginous ossification of rib\n", + " definition of HP:0006646 (Costal cartilage calcification)\n", + " \n", + " \n", + " Reduced fibroblast CD59 level\n", + " definition of HP:0031558 (Reduced fibroblast CD59 level)\n", + " \n", + " \n", + " Reduced level of CD59 on the fibroblast surface as assessed by flow cytometry.\n", + " definition of HP:0031558 (Reduced fibroblast CD59 level)\n", + " \n", + " \n", + " Positive Quantiferon tuberculosis test\n", + " definition of HP:6000799 (Positive Quantiferon tuberculosis test)\n", + " \n", + " \n", + " A positive Quantiferon test result indicating Mycobacterium tuberculosis. The Quantiferon assay is designed to stimulate IFN-gamma release from CD4+ T cells in a single tuberculosis antigen tube using long peptides from three M. tuberculosis antigens.\n", + " definition of HP:6000799 (Positive Quantiferon tuberculosis test)\n", + " \n", + " \n", + " Unlayered lissencephaly\n", + " definition of HP:0032456 (Unlayered lissencephaly)\n", + " \n", + " \n", + " A type of lissencephaly whereby upon neuropathological examination the cortical plate is severely disorganized with a festooned-like pattern and with neither lamination nor clear demarcation between white and gray matter.\n", + " definition of HP:0032456 (Unlayered lissencephaly)\n", + " \n", + " \n", + " Absent epiphyses of the distal phalanges of the hand\n", + " definition of HP:0010246 (Absent epiphyses of the distal phalanges of the hand)\n", + " \n", + " \n", + " #Absent end part of the outermost hand bones\n", + " definition of HP:0010246 (Absent epiphyses of the distal phalanges of the hand)\n", + " \n", + " \n", + " Abnormal vaginal discharge\n", + " definition of HP:0034269 (Abnormal vaginal discharge)\n", + " \n", + " \n", + " Anomalous amount, odor, or consistency of the fluid or mucus that comes from the vagina\n", + " definition of HP:0034269 (Abnormal vaginal discharge)\n", + " \n", + " \n", + " Sawtooth acanthosis\n", + " definition of HP:0025122 (Sawtooth acanthosis)\n", + " \n", + " \n", + " A type of epidermal acanthosis characterized by a jagged (sawtooth) appearance of the rete ridges of the epidermis.\n", + " definition of HP:0025122 (Sawtooth acanthosis)\n", + " \n", + " \n", + " #Sawtoothed acanthosis\n", + " definition of HP:0025122 (Sawtooth acanthosis)\n", + " \n", + " \n", + " Focal aware automatism seizure\n", + " definition of HP:0032910 (Focal aware automatism seizure)\n", + " \n", + " \n", + " A type of focal automatism seizure during which awareness is fully retained throughout.\n", + " definition of HP:0032910 (Focal aware automatism seizure)\n", + " \n", + " \n", + " Anti-Epstein-Barr virus-specific antibody positivity\n", + " definition of HP:0430064 (Anti-Epstein-Barr virus-specific antibody positivity)\n", + " \n", + " \n", + " The presence of antibodies in the blood circulation that react against a component of the Epstein Barr virus (EBV).\n", + " definition of HP:0430064 (Anti-Epstein-Barr virus-specific antibody positivity)\n", + " \n", + " \n", + " Abnormal morphology of erythroid progenitor cell\n", + " definition of HP:0025034 (Abnormal morphology of erythroid progenitor cell)\n", + " \n", + " \n", + " Abnormal form of the progenitor cells committed to the erythroid lineage.\n", + " definition of HP:0025034 (Abnormal morphology of erythroid progenitor cell)\n", + " \n", + " \n", + " Increased circulating IgE concentration\n", + " definition of HP:0003212 (Increased circulating IgE concentration)\n", + " \n", + " \n", + " An abnormally increased overall level of immunoglobulin E in blood.\n", + " definition of HP:0003212 (Increased circulating IgE concentration)\n", + " \n", + " \n", + " #Elevated immunoglobulin E #Elevated serum IgE #High immunoglobulin E #Increased circulating IgE level\n", + " definition of HP:0003212 (Increased circulating IgE concentration)\n", + " \n", + " \n", + " Carbuncle\n", + " definition of HP:0020084 (Carbuncle)\n", + " \n", + " \n", + " A pustular lesion of the skin emerging from group of infected hair follicles, characterized by a deep location and dissecting through tissue planes. A carbuncle is larger and deeper than a furuncle.\n", + " definition of HP:0020084 (Carbuncle)\n", + " \n", + " \n", + " Bone marrow hypocellularity\n", + " definition of HP:0005528 (Bone marrow hypocellularity)\n", + " \n", + " \n", + " A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat.\n", + " definition of HP:0005528 (Bone marrow hypocellularity)\n", + " \n", + " \n", + " #Bone marrow failure #Bone marrow hypoplasia #Hypoplastic bone marrow #Myeloid hypoplasia\n", + " definition of HP:0005528 (Bone marrow hypocellularity)\n", + " \n", + " \n", + " Grade III vesicoureteral reflux\n", + " definition of HP:0033737 (Grade III vesicoureteral reflux)\n", + " \n", + " \n", + " Vesicoureteral reflux with dilatation of the collecting system.\n", + " definition of HP:0033737 (Grade III vesicoureteral reflux)\n", + " \n", + " \n", + " #Grade III VUR #VUR III\n", + " definition of HP:0033737 (Grade III vesicoureteral reflux)\n", + " \n", + " \n", + " Abnormality of the ankle\n", + " definition of HP:0003028 (Abnormality of the ankle)\n", + " \n", + " \n", + " An anomaly of the joint that connects the foot with the leg.\n", + " definition of HP:0003028 (Abnormality of the ankle)\n", + " \n", + " \n", + " #Abnormality of the ankles\n", + " definition of HP:0003028 (Abnormality of the ankle)\n", + " \n", + " \n", + " Migraine without aura\n", + " definition of HP:0002083 (Migraine without aura)\n", + " \n", + " \n", + " Repeated headache attacks lasting 4-72 h fulfilling at least two of the following criteria: 1) unilateral location, 2) pulsating quality, 3) moderate or severe pain intensity, and 4) aggravation by or causing avoidance of routine physical activity such as climbing stairs. Headache attacks are commonly accompanied by nausea, vomiting, photophobia, or phonophobia.\n", + " definition of HP:0002083 (Migraine without aura)\n", + " \n", + " \n", + " Hypoplasia of the thymus\n", + " definition of HP:0000778 (Hypoplasia of the thymus)\n", + " \n", + " \n", + " Underdevelopment of the thymus.\n", + " definition of HP:0000778 (Hypoplasia of the thymus)\n", + " \n", + " \n", + " #Small thymus #Thymic hypoplasia #Thymus hypoplasia\n", + " definition of HP:0000778 (Hypoplasia of the thymus)\n", + " \n", + " \n", + " Anti-annexin A5 antibody positivity\n", + " definition of HP:6000646 (Anti-annexin A5 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against annexin A5.\n", + " definition of HP:6000646 (Anti-annexin A5 antibody positivity)\n", + " \n", + " \n", + " Neoplasm of the pituitary gland\n", + " definition of HP:0040277 (Neoplasm of the pituitary gland)\n", + " \n", + " \n", + " Curved proximal phalanx of the 3rd toe\n", + " definition of HP:0100446 (Curved proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " A deviation from the normal straight form of the proximal phalanx of the third toe.\n", + " definition of HP:0100446 (Curved proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Curved innermost bone of 3rd toe\n", + " definition of HP:0100446 (Curved proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Abnormal branching pattern of left aortic arch\n", + " definition of HP:0031055 (Abnormal branching pattern of left aortic arch)\n", + " \n", + " \n", + " A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries, whereby the aortic arch descends on the left as normal (as opposed to right aortic arch).\n", + " definition of HP:0031055 (Abnormal branching pattern of left aortic arch)\n", + " \n", + " \n", + " Pigmented micronodular adrenocortical disease\n", + " definition of HP:0001580 (Pigmented micronodular adrenocortical disease)\n", + " \n", + " \n", + " Joint stiffness\n", + " definition of HP:0001387 (Joint stiffness)\n", + " \n", + " \n", + " Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.\n", + " definition of HP:0001387 (Joint stiffness)\n", + " \n", + " \n", + " #Joint stiffness #Stiff joint #Stiff joints\n", + " definition of HP:0001387 (Joint stiffness)\n", + " \n", + " \n", + " Elevated blood ethylene glycol concentration\n", + " definition of HP:6000568 (Elevated blood ethylene glycol concentration)\n", + " \n", + " \n", + " The concentration of ethylene glycol in the blood is above the upper limit of a guidance value for total concentrations that implies possible injurious effects.\n", + " definition of HP:6000568 (Elevated blood ethylene glycol concentration)\n", + " \n", + " \n", + " Abnormal metencephalon morphology\n", + " definition of HP:0011283 (Abnormal metencephalon morphology)\n", + " \n", + " \n", + " An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum.\n", + " definition of HP:0011283 (Abnormal metencephalon morphology)\n", + " \n", + " \n", + " #Abnormality of the metencephalon\n", + " definition of HP:0011283 (Abnormal metencephalon morphology)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the 4th metacarpal\n", + " definition of HP:0010042 (Aplasia/Hypoplasia of the 4th metacarpal)\n", + " \n", + " \n", + " Aplasia or Hypoplasia affecting the 4th metacarpal.\n", + " definition of HP:0010042 (Aplasia/Hypoplasia of the 4th metacarpal)\n", + " \n", + " \n", + " #Absent/small 4th long bone of hand #Absent/underdeveloped 4th long bone of hand\n", + " definition of HP:0010042 (Aplasia/Hypoplasia of the 4th metacarpal)\n", + " \n", + " \n", + " Atrophy/Degeneration involving the corticospinal tracts\n", + " definition of HP:0007372 (Atrophy/Degeneration involving the corticospinal tracts)\n", + " \n", + " \n", + " Reduced tendon reflexes\n", + " definition of HP:0001315 (Reduced tendon reflexes)\n", + " \n", + " \n", + " Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.\n", + " definition of HP:0001315 (Reduced tendon reflexes)\n", + " \n", + " \n", + " #Absent or decreased deep tendon reflexes #Decreased deep tendon reflexes #Decreased tendon reflexes #Decreased to absent deep tendon reflexes #Decreased/absent deep tendon reflexes #Depressed tendon reflexes #Diminished deep tendon reflexes #Diminished or absent deep tendon reflexes #Diminished or absent tendon reflexes #Hypoactive to absent deep tendon reflexes #Impaired tendon reflexes #Reduced/absent deep tendon reflexes #Weak or absent deep tendon reflexes\n", + " definition of HP:0001315 (Reduced tendon reflexes)\n", + " \n", + " \n", + " Triggered by EBV infection\n", + " definition of HP:0033185 (Triggered by EBV infection)\n", + " \n", + " \n", + " Applies to a sign or symptom that is provoked or brought about by infection by the Epstein-Barr virus.\n", + " definition of HP:0033185 (Triggered by EBV infection)\n", + " \n", + " \n", + " #Triggered by Epstein Barr virus infection\n", + " definition of HP:0033185 (Triggered by EBV infection)\n", + " \n", + " \n", + " Rectovesical fistula\n", + " definition of HP:0034451 (Rectovesical fistula)\n", + " \n", + " \n", + " An aberrant, pathological communication between the rectum and the bladder.\n", + " definition of HP:0034451 (Rectovesical fistula)\n", + " \n", + " \n", + " #Vesicorectal fistula\n", + " definition of HP:0034451 (Rectovesical fistula)\n", + " \n", + " \n", + " Decreased male libido\n", + " definition of HP:0040306 (Decreased male libido)\n", + " \n", + " \n", + " Reduced desire for sexual activity on the part of a male.\n", + " definition of HP:0040306 (Decreased male libido)\n", + " \n", + " \n", + " Complete duplication of the proximal phalanx of the 4th finger\n", + " definition of HP:0009980 (Complete duplication of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " Complete duplication of the fourth proximal phalanx of hand.\n", + " definition of HP:0009980 (Complete duplication of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " #Complete duplication of the proximal bone of the ring finger\n", + " definition of HP:0009980 (Complete duplication of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " Increased anti-food allergen IgE antibody level\n", + " definition of HP:0410227 (Increased anti-food allergen IgE antibody level)\n", + " \n", + " \n", + " Increased level of IgE antibody against proteins found in foods, such as milk, egg, soy, wheat, peanut, treenut, fish, and shellfish.\n", + " definition of HP:0410227 (Increased anti-food allergen IgE antibody level)\n", + " \n", + " \n", + " #Increased level of anti-food allergen IgE antibody\n", + " definition of HP:0410227 (Increased anti-food allergen IgE antibody level)\n", + " \n", + " \n", + " Skin detachment\n", + " definition of HP:0032156 (Skin detachment)\n", + " \n", + " \n", + " Loss of sections of skin either spontaneously or after gentle handling.\n", + " definition of HP:0032156 (Skin detachment)\n", + " \n", + " \n", + " #Detached skin #Epidermal detachment #Skin sloughing\n", + " definition of HP:0032156 (Skin detachment)\n", + " \n", + " \n", + " Decreased CSF 5-methyltetrahydrofolate concentration\n", + " definition of HP:0012446 (Decreased CSF 5-methyltetrahydrofolate concentration)\n", + " \n", + " \n", + " A reduced concentration of 5-methyltetrahydrofolate(2-) in the cerebrospinal fluid (CSF). 5-methyltetrahydrofolate is the active folate metabolite.\n", + " definition of HP:0012446 (Decreased CSF 5-methyltetrahydrofolate concentration)\n", + " \n", + " \n", + " #Low CSF 5-methyltetrahydrofolate #Reduced CSF 5-methyltetrahydrofolate concentration\n", + " definition of HP:0012446 (Decreased CSF 5-methyltetrahydrofolate concentration)\n", + " \n", + " \n", + " Increased circulating cathepsin D level\n", + " definition of HP:0033182 (Increased circulating cathepsin D level)\n", + " \n", + " \n", + " An increase in concentration of cathepsin D in the blood circulation.\n", + " definition of HP:0033182 (Increased circulating cathepsin D level)\n", + " \n", + " \n", + " Increased circulating copper concentration\n", + " definition of HP:0032254 (Increased circulating copper concentration)\n", + " \n", + " \n", + " An abnormally elevated concentration of copper in the blood circulation. This term refers to the total copper concentration.\n", + " definition of HP:0032254 (Increased circulating copper concentration)\n", + " \n", + " \n", + " #Elevated serum copper #Hypercupremia\n", + " definition of HP:0032254 (Increased circulating copper concentration)\n", + " \n", + " \n", + " Accessory lunate\n", + " definition of HP:0004249 (Accessory lunate)\n", + " \n", + " \n", + " Internal carotid artery calcification\n", + " definition of HP:0031307 (Internal carotid artery calcification)\n", + " \n", + " \n", + " An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the internal carotid artery.\n", + " definition of HP:0031307 (Internal carotid artery calcification)\n", + " \n", + " \n", + " Absent epiphysis of the distal phalanx of the 2nd toe\n", + " definition of HP:0100100 (Absent epiphysis of the distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Absent end part of the outermost bone of the 2nd toe\n", + " definition of HP:0100100 (Absent epiphysis of the distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Lymph node with poorly defined germinal center borders\n", + " definition of HP:0020254 (Lymph node with poorly defined germinal center borders)\n", + " \n", + " \n", + " Reduced demarcation of the border between germinal centers and mantle zones. This border is typically seen as a crisp line on hematoxylin and eosin (H&E)-stained lymph node sections.\n", + " definition of HP:0020254 (Lymph node with poorly defined germinal center borders)\n", + " \n", + " \n", + " Glandular cell neoplasm\n", + " definition of HP:0031493 (Glandular cell neoplasm)\n", + " \n", + " \n", + " A tumor that arises from a gland cell.\n", + " definition of HP:0031493 (Glandular cell neoplasm)\n", + " \n", + " \n", + " Triangular shaped phalanges of the 2nd toe\n", + " definition of HP:0010354 (Triangular shaped phalanges of the 2nd toe)\n", + " \n", + " \n", + " #Triangular shaped bone of 2nd toe #Triangular shaped bone of second toe\n", + " definition of HP:0010354 (Triangular shaped phalanges of the 2nd toe)\n", + " \n", + " \n", + " Decreased skull base length\n", + " definition of HP:0034772 (Decreased skull base length)\n", + " \n", + " \n", + " Reduced anterioposterior dimension of the skull base.\n", + " definition of HP:0034772 (Decreased skull base length)\n", + " \n", + " \n", + " #Decreased cranial base length #Short skull base\n", + " definition of HP:0034772 (Decreased skull base length)\n", + " \n", + " \n", + " Increased serum beta-hexosaminidase\n", + " definition of HP:0003333 (Increased serum beta-hexosaminidase)\n", + " \n", + " \n", + " Reduced factor XII activity\n", + " definition of HP:0004841 (Reduced factor XII activity)\n", + " \n", + " \n", + " Decreased activity of coagulation factor XII. Factor XII (fXII) is part of the intrinsic coagulation pathway and binds to exposed collagen at site of vessel wall injury, activated by high-MW kininogen and kallikrein, thereby initiating the coagulation cascade.\n", + " definition of HP:0004841 (Reduced factor XII activity)\n", + " \n", + " \n", + " #Factor XII deficiency #Hageman factor deficiency\n", + " definition of HP:0004841 (Reduced factor XII activity)\n", + " \n", + " \n", + " Abnormal circulating hormone concentration\n", + " definition of HP:0003117 (Abnormal circulating hormone concentration)\n", + " \n", + " \n", + " Concentration of a hormone in the blood circulation outside of normal limits.\n", + " definition of HP:0003117 (Abnormal circulating hormone concentration)\n", + " \n", + " \n", + " #Abnormal circulating hormone level #Abnormality of circulating hormone level\n", + " definition of HP:0003117 (Abnormal circulating hormone concentration)\n", + " \n", + " \n", + " Fibular overgrowth\n", + " definition of HP:0003099 (Fibular overgrowth)\n", + " \n", + " \n", + " Relatively increased growth of the fibula compared to that of the tibia.\n", + " definition of HP:0003099 (Fibular overgrowth)\n", + " \n", + " \n", + " #Overgrowth of calf bone\n", + " definition of HP:0003099 (Fibular overgrowth)\n", + " \n", + " \n", + " Neoplasm by anatomical site\n", + " definition of HP:0011793 (Neoplasm by anatomical site)\n", + " \n", + " \n", + " Neoplasm categorized according to the anatomical site of origin of the neoplasm.\n", + " definition of HP:0011793 (Neoplasm by anatomical site)\n", + " \n", + " \n", + " Abnormal male germ cell morphology\n", + " definition of HP:0012863 (Abnormal male germ cell morphology)\n", + " \n", + " \n", + " A structural anomaly of a male reproductive cell.\n", + " definition of HP:0012863 (Abnormal male germ cell morphology)\n", + " \n", + " \n", + " Bowing of the long bones\n", + " definition of HP:0006487 (Bowing of the long bones)\n", + " \n", + " \n", + " A bending or abnormal curvature of a long bone.\n", + " definition of HP:0006487 (Bowing of the long bones)\n", + " \n", + " \n", + " #Bowed long bones #Bowing of long bones #Bowing of the long bones #Camptomelia #Diaphyseal bowing #Diaphyseal bowing of long bones\n", + " definition of HP:0006487 (Bowing of the long bones)\n", + " \n", + " \n", + " Abnormal movement during sleep\n", + " definition of HP:5200300 (Abnormal movement during sleep)\n", + " \n", + " \n", + " Periodic Limb Movement Disorder, also known as Sleep-Related Myoclonus Syndrome or Nocturnal Myoclonus Syndrome, refers to the periodic and stereotypic movements of the legs or upper limbs during sleep.\n", + " definition of HP:5200300 (Abnormal movement during sleep)\n", + " \n", + " \n", + " #Nocturnal myoclonus syndrome #Periodic limb movement disorder\n", + " definition of HP:5200300 (Abnormal movement during sleep)\n", + " \n", + " \n", + " Anterior chamber cells\n", + " definition of HP:0025560 (Anterior chamber cells)\n", + " \n", + " \n", + " Tiny deposits corresponding to cells floating in the anterior chamber of the eye. This appearance is typically associated with intraocular inflammation leading to breakdown of the blood-aqueous barrier and resulting in an increase in the number of cells and in the aqueous humor. Grading (SUN Working Group) is performed by estimating the number of cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.\n", + " definition of HP:0025560 (Anterior chamber cells)\n", + " \n", + " \n", + " Right coronary artery ostial atresia\n", + " definition of HP:0031637 (Right coronary artery ostial atresia)\n", + " \n", + " \n", + " Absence of the normal opening of the coronary ostium from which the right main coronary artery originates.\n", + " definition of HP:0031637 (Right coronary artery ostial atresia)\n", + " \n", + " \n", + " Supraventricular tachycardia with a manifest accessory pathway\n", + " definition of HP:0011694 (Supraventricular tachycardia with a manifest accessory pathway)\n", + " \n", + " \n", + " Recurrent shoulder dislocation\n", + " definition of HP:0031610 (Recurrent shoulder dislocation)\n", + " \n", + " \n", + " Shoulder dislocation occurring repeated times.\n", + " definition of HP:0031610 (Recurrent shoulder dislocation)\n", + " \n", + " \n", + " #Multiple shoulder dislocation\n", + " definition of HP:0031610 (Recurrent shoulder dislocation)\n", + " \n", + " \n", + " Linear C3 deposits along the epidermal basement membrane zone\n", + " definition of HP:0031541 (Linear C3 deposits along the epidermal basement membrane zone)\n", + " \n", + " \n", + " Presence of complement C3 in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy.\n", + " definition of HP:0031541 (Linear C3 deposits along the epidermal basement membrane zone)\n", + " \n", + " \n", + " Curved middle phalanx of the 2nd toe\n", + " definition of HP:0010407 (Curved middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " A deviation from the normal straight form of the middle phalanx of the 2nd toe.\n", + " definition of HP:0010407 (Curved middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Curved middle bone of 2nd toe\n", + " definition of HP:0010407 (Curved middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " CSF varicella zoster antibody positivity\n", + " definition of HP:0430141 (CSF varicella zoster antibody positivity)\n", + " \n", + " \n", + " The presence of antibodies in the cerebrospinal fluid (CSF) that react against a component of varicella zoster virus.\n", + " definition of HP:0430141 (CSF varicella zoster antibody positivity)\n", + " \n", + " \n", + " #Anti-VZV IgG antibodies in CSF\n", + " definition of HP:0430141 (CSF varicella zoster antibody positivity)\n", + " \n", + " \n", + " Basal ganglia cysts\n", + " definition of HP:0006799 (Basal ganglia cysts)\n", + " \n", + " \n", + " #Cystic lesions in the basal ganglia\n", + " definition of HP:0006799 (Basal ganglia cysts)\n", + " \n", + " \n", + " Subretinal fluid\n", + " definition of HP:0031526 (Subretinal fluid)\n", + " \n", + " \n", + " Edema/fluid accumulating between the retinal pigment epithelium and Bruch's membrane.\n", + " definition of HP:0031526 (Subretinal fluid)\n", + " \n", + " \n", + " #Sub-retinal fluid\n", + " definition of HP:0031526 (Subretinal fluid)\n", + " \n", + " \n", + " Abnormality of the head\n", + " definition of HP:0000234 (Abnormality of the head)\n", + " \n", + " \n", + " An abnormality of the head.\n", + " definition of HP:0000234 (Abnormality of the head)\n", + " \n", + " \n", + " #Abnormal head #Abnormality of the head #Head abnormality\n", + " definition of HP:0000234 (Abnormality of the head)\n", + " \n", + " \n", + " Loss of gluteal subcutaneous adipose tissue\n", + " definition of HP:0009017 (Loss of gluteal subcutaneous adipose tissue)\n", + " \n", + " \n", + " Loss (reduction of previously present) of subcutaneous adipose tissue in the gluteal region.\n", + " definition of HP:0009017 (Loss of gluteal subcutaneous adipose tissue)\n", + " \n", + " \n", + " #Loss of fat tissue below the skin in gluts\n", + " definition of HP:0009017 (Loss of gluteal subcutaneous adipose tissue)\n", + " \n", + " \n", + " Abnormal basal ganglia MRI signal intensity\n", + " definition of HP:0012751 (Abnormal basal ganglia MRI signal intensity)\n", + " \n", + " \n", + " A deviation from normal signal on magnetic resonance imaging (MRI) of the basal ganglia.\n", + " definition of HP:0012751 (Abnormal basal ganglia MRI signal intensity)\n", + " \n", + " \n", + " Hypoplasia of the vagina\n", + " definition of HP:0008726 (Hypoplasia of the vagina)\n", + " \n", + " \n", + " Developmental hypoplasia of the vagina.\n", + " definition of HP:0008726 (Hypoplasia of the vagina)\n", + " \n", + " \n", + " #Hypoplastic vagina #Rudimentary vagina #Underdeveloped vagina\n", + " definition of HP:0008726 (Hypoplasia of the vagina)\n", + " \n", + " \n", + " Chronic decreased circulating IgG3\n", + " definition of HP:0041072 (Chronic decreased circulating IgG3)\n", + " \n", + " \n", + " A lasting decrease of immunoglobulin G3 (IgG3) in the blood.\n", + " definition of HP:0041072 (Chronic decreased circulating IgG3)\n", + " \n", + " \n", + " #Chronic decreased IgG3 in blood\n", + " definition of HP:0041072 (Chronic decreased circulating IgG3)\n", + " \n", + " \n", + " Tendon rupture\n", + " definition of HP:0100550 (Tendon rupture)\n", + " \n", + " \n", + " Breakage (tear) of a tendon.\n", + " definition of HP:0100550 (Tendon rupture)\n", + " \n", + " \n", + " #Rupture of tendons #Ruptured tendon #Tendon rupture #Tendon/muscle rupture\n", + " definition of HP:0100550 (Tendon rupture)\n", + " \n", + " \n", + " Intrusion symptom\n", + " definition of HP:0032936 (Intrusion symptom)\n", + " \n", + " \n", + " Unintentional re-experiencing of a traumatic event involves symptoms that typically include sensory impressions and emotional responses stemming from the trauma. These symptoms seem to lack a sense of time perspective and context.\n", + " definition of HP:0032936 (Intrusion symptom)\n", + " \n", + " \n", + " #Re-experiencing symptom\n", + " definition of HP:0032936 (Intrusion symptom)\n", + " \n", + " \n", + " Hammertoe\n", + " definition of HP:0001765 (Hammertoe)\n", + " \n", + " \n", + " Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint.\n", + " definition of HP:0001765 (Hammertoe)\n", + " \n", + " \n", + " #Hammer toe #Hammertoe #Hammertoes\n", + " definition of HP:0001765 (Hammertoe)\n", + " \n", + " \n", + " Centrocecal scotoma\n", + " definition of HP:0000576 (Centrocecal scotoma)\n", + " \n", + " \n", + " A scotoma (area of diminished vision within the visual field) located between the central point of fixation and the blind spot with a roughly horizontal oval shape.\n", + " definition of HP:0000576 (Centrocecal scotoma)\n", + " \n", + " \n", + " Fossa navicularis urethral stricture\n", + " definition of HP:0025413 (Fossa navicularis urethral stricture)\n", + " \n", + " \n", + " A type of urethral stricture affecting the fossa navicularis, which is the spongy part of the male urethra located at the glans penis.\n", + " definition of HP:0025413 (Fossa navicularis urethral stricture)\n", + " \n", + " \n", + " Abnormality of the biliary system\n", + " definition of HP:0004297 (Abnormality of the biliary system)\n", + " \n", + " \n", + " An abnormality of the biliary system.\n", + " definition of HP:0004297 (Abnormality of the biliary system)\n", + " \n", + " \n", + " Triceps areflexia\n", + " definition of HP:0033228 (Triceps areflexia)\n", + " \n", + " \n", + " Inability to elicit triceps tendon reflex.\n", + " definition of HP:0033228 (Triceps areflexia)\n", + " \n", + " \n", + " #Areflexia of triceps\n", + " definition of HP:0033228 (Triceps areflexia)\n", + " \n", + " \n", + " Abnormal spinal cord physiology\n", + " definition of HP:0034482 (Abnormal spinal cord physiology)\n", + " \n", + " \n", + " Absent otoacoustic emissions\n", + " definition of HP:6000182 (Absent otoacoustic emissions)\n", + " \n", + " \n", + " Failure to record otoacoustic emissions (OAE), i.e., sounds generated from the cochlea in response to an acoustic stimulus and transmitted across the middle ear to the external ear canal.\n", + " definition of HP:6000182 (Absent otoacoustic emissions)\n", + " \n", + " \n", + " Retinal hole\n", + " definition of HP:0011530 (Retinal hole)\n", + " \n", + " \n", + " A small break in the retina.\n", + " definition of HP:0011530 (Retinal hole)\n", + " \n", + " \n", + " #Retinal holes\n", + " definition of HP:0011530 (Retinal hole)\n", + " \n", + " \n", + " Fragmentation of the epiphysis of the distal phalanx of the 2nd toe\n", + " definition of HP:0100104 (Fragmentation of the epiphysis of the distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Fragmentation of the end part of the outermost bone of the 2nd toe\n", + " definition of HP:0100104 (Fragmentation of the epiphysis of the distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Abnormality of frontal sinus\n", + " definition of HP:0002687 (Abnormality of frontal sinus)\n", + " \n", + " \n", + " An abnormality of the frontal sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The frontal sinus is located within the frontal bone.\n", + " definition of HP:0002687 (Abnormality of frontal sinus)\n", + " \n", + " \n", + " #Abnormality of sinus frontalis #Abnormality of the forehead sinus\n", + " definition of HP:0002687 (Abnormality of frontal sinus)\n", + " \n", + " \n", + " Enteroviral encephalitis\n", + " definition of HP:0034285 (Enteroviral encephalitis)\n", + " \n", + " \n", + " Inflammation of the brain related to infection by an enterovirus.\n", + " definition of HP:0034285 (Enteroviral encephalitis)\n", + " \n", + " \n", + " Excessive salivation\n", + " definition of HP:0003781 (Excessive salivation)\n", + " \n", + " \n", + " Excessive production of saliva.\n", + " definition of HP:0003781 (Excessive salivation)\n", + " \n", + " \n", + " #Excessive production of saliva #Excessive salivation #Hypersalivation #Mouth watering #Oversalivation #Ptyalism #Watery mouth\n", + " definition of HP:0003781 (Excessive salivation)\n", + " \n", + " \n", + " Elevated circulating pristanic acid concentration following branched-chain fatty acid ingestion\n", + " definition of HP:6001095 (Elevated circulating pristanic acid concentration following branched-chain fatty acid ingestion)\n", + " \n", + " \n", + " Concentration of pristanic acid in the blood circulation above the upper limit of normal. This finding can be observed in Zellweger syndrome. Note that branched-chain fatty acid accumulation depends on dietary intake of phytanic acid, which is minimal in formula- and breast-fed infants. Thus, phytanic and pristanic acid levels are normal in a neonate with Zellweger spectrum disorder.\n", + " definition of HP:6001095 (Elevated circulating pristanic acid concentration following branched-chain fatty acid ingestion)\n", + " \n", + " \n", + " Neurenteric cyst\n", + " definition of HP:0030725 (Neurenteric cyst)\n", + " \n", + " \n", + " The neurenteric cyst is a rare lesion composed of heterotopic endodermal tissue. During the third week of human embryogenesis, the neurenteric canal unites the yolk sac and the amniotic cavity as it traverses the primitive notochordal plate. Persistence of the normally transient neurenteric canal prevents appropriate separation of endoderm and notochord. This results in a variable degree of communication between neural and enteric epithelium.\n", + " definition of HP:0030725 (Neurenteric cyst)\n", + " \n", + " \n", + " Foam cells\n", + " definition of HP:0003651 (Foam cells)\n", + " \n", + " \n", + " The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, where they ingest low-density lipoproteins and become laden with lipids, giving them a foamy appearance.\n", + " definition of HP:0003651 (Foam cells)\n", + " \n", + " \n", + " #Foamy histiocytes #Foamy macrophages #Lipid-laden histiocytes #Presence of foam cells\n", + " definition of HP:0003651 (Foam cells)\n", + " \n", + " \n", + " Anti-Ma1 antibody positivity\n", + " definition of HP:5000023 (Anti-Ma1 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma1.\n", + " definition of HP:5000023 (Anti-Ma1 antibody positivity)\n", + " \n", + " \n", + " Bursitis\n", + " definition of HP:0025232 (Bursitis)\n", + " \n", + " \n", + " Inflammation of a synovial bursa.\n", + " definition of HP:0025232 (Bursitis)\n", + " \n", + " \n", + " Focal T1 hyperintense brainstem lesion\n", + " definition of HP:6000286 (Focal T1 hyperintense brainstem lesion)\n", + " \n", + " \n", + " A lighter than expected T1 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hyperintensity affecting a particular region of the brainstem.\n", + " definition of HP:6000286 (Focal T1 hyperintense brainstem lesion)\n", + " \n", + " \n", + " Decreased circulating antibody concentration\n", + " definition of HP:0004313 (Decreased circulating antibody concentration)\n", + " \n", + " \n", + " An abnormally decreased level of immunoglobulin in blood.\n", + " definition of HP:0004313 (Decreased circulating antibody concentration)\n", + " \n", + " \n", + " #Decreased antibody level in blood #Decreased circulating antibody level #Decreased immunoglobulin level #Decreased serum immunoglobulin #Hypogammaglobulinemia #Immunoglobulin deficiency #Reduced immunoglobulin levels\n", + " definition of HP:0004313 (Decreased circulating antibody concentration)\n", + " \n", + " \n", + " Anti-laminin 332 antibody positivity\n", + " definition of HP:4000021 (Anti-laminin 332 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against laminin-332.\n", + " definition of HP:4000021 (Anti-laminin 332 antibody positivity)\n", + " \n", + " \n", + " #Anti-laminin 5 antibody positivity\n", + " definition of HP:4000021 (Anti-laminin 332 antibody positivity)\n", + " \n", + " \n", + " Patchy alopecia\n", + " definition of HP:0002232 (Patchy alopecia)\n", + " \n", + " \n", + " Transient, non-scarring hair loss and preservation of the hair follicle located in in well-defined patches.\n", + " definition of HP:0002232 (Patchy alopecia)\n", + " \n", + " \n", + " #Alopecia areata #Patchy baldness\n", + " definition of HP:0002232 (Patchy alopecia)\n", + " \n", + " \n", + " Anti-lamin C antibody positivity\n", + " definition of HP:6000644 (Anti-lamin C antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies in the blood circulation that react against human lamin C.\n", + " definition of HP:6000644 (Anti-lamin C antibody positivity)\n", + " \n", + " \n", + " #Prelamin C antibody positivity\n", + " definition of HP:6000644 (Anti-lamin C antibody positivity)\n", + " \n", + " \n", + " Paroxysmal involuntary eye movements\n", + " definition of HP:0007704 (Paroxysmal involuntary eye movements)\n", + " \n", + " \n", + " Sudden-onset episode of abnormal, involuntary eye movements.\n", + " definition of HP:0007704 (Paroxysmal involuntary eye movements)\n", + " \n", + " \n", + " #Abnormal eye movements, paroxysmal\n", + " definition of HP:0007704 (Paroxysmal involuntary eye movements)\n", + " \n", + " \n", + " Pleural plaque\n", + " definition of HP:0033398 (Pleural plaque)\n", + " \n", + " \n", + " Deposits of hyalinized collagen fibers in the parietal pleura (preferentially pleura adjacent to ribs, particularly the sixth through ninth ribs).\n", + " definition of HP:0033398 (Pleural plaque)\n", + " \n", + " \n", + " Merkel cell skin cancer\n", + " definition of HP:0030447 (Merkel cell skin cancer)\n", + " \n", + " \n", + " A malignant cutaneous tumor of the elderly that is characterized by an aggressive course with regional nodal involvement, distant metastases and a high rate of recurrence. Most patients present with rapidly growing, painless, firm, non-tender, dome-shaped red, occasionally ulcerated skin nodules, which have a red or bluish color, measuring up to several centimeters, on predominantly sun-exposed areas of the body. The overlying skin is smooth and shiny, sometimes exhibiting ulcerative, acneiform or telangiectatic features.\n", + " definition of HP:0030447 (Merkel cell skin cancer)\n", + " \n", + " \n", + " #Anaplastic carcinoma of the skin #Cutaneous APUDoma #Merkel cell cancer of the skin #Neuroendocrine carcinoma of the skin #Neuroendocrine tumor of the skin #Neuroendocrine tumour of the skin #Primary small cell carcinoma of the skin #Primary undifferentiated carcinoma of the skin\n", + " definition of HP:0030447 (Merkel cell skin cancer)\n", + " \n", + " \n", + " Vestibular saccular degeneration\n", + " definition of HP:0031000 (Vestibular saccular degeneration)\n", + " \n", + " \n", + " Deterioration or loss of the tissues of the saccule of the vestibule.\n", + " definition of HP:0031000 (Vestibular saccular degeneration)\n", + " \n", + " \n", + " Metaphyseal sclerosis\n", + " definition of HP:0004979 (Metaphyseal sclerosis)\n", + " \n", + " \n", + " Abnormally increased density of metaphyseal bone.\n", + " definition of HP:0004979 (Metaphyseal sclerosis)\n", + " \n", + " \n", + " #Increased bone density in wide portion of long bone #Sclerotic metaphyses\n", + " definition of HP:0004979 (Metaphyseal sclerosis)\n", + " \n", + " \n", + " Premature rupture of membranes\n", + " definition of HP:0001788 (Premature rupture of membranes)\n", + " \n", + " \n", + " Premature rupture of membranes (PROM) is a condition which occurs in pregnancy when the amniotic sac ruptures more than an hour before the onset of labor.\n", + " definition of HP:0001788 (Premature rupture of membranes)\n", + " \n", + " \n", + " Ridged nail\n", + " definition of HP:0001807 (Ridged nail)\n", + " \n", + " \n", + " Longitudinal, linear prominences in the nail plate.\n", + " definition of HP:0001807 (Ridged nail)\n", + " \n", + " \n", + " #Grooved nails #Longitudinal ridging #Nail ridging\n", + " definition of HP:0001807 (Ridged nail)\n", + " \n", + " \n", + " Reduced intrathoracic adipose tissue\n", + " definition of HP:0003809 (Reduced intrathoracic adipose tissue)\n", + " \n", + " \n", + " An abnormally reduced amount of adipose tissue in the thoracic cavity.\n", + " definition of HP:0003809 (Reduced intrathoracic adipose tissue)\n", + " \n", + " \n", + " Small epiphysis of the distal phalanx of the 3rd toe\n", + " definition of HP:0100143 (Small epiphysis of the distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Small end part of the outermost bone of the 3rd toe\n", + " definition of HP:0100143 (Small epiphysis of the distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Increased anti-gluten IgE antibody level\n", + " definition of HP:0410229 (Increased anti-gluten IgE antibody level)\n", + " \n", + " \n", + " Increased level of IgE antibody against gluten, a protein found in wheat, barley, and rye.\n", + " definition of HP:0410229 (Increased anti-gluten IgE antibody level)\n", + " \n", + " \n", + " #Increased level of anti-gluten IgE antibody\n", + " definition of HP:0410229 (Increased anti-gluten IgE antibody level)\n", + " \n", + " \n", + " Anterior beaking of lumbar vertebrae\n", + " definition of HP:0008430 (Anterior beaking of lumbar vertebrae)\n", + " \n", + " \n", + " Anterior tongue-like protrusions of the vertebral bodies of the lumbar spine.\n", + " definition of HP:0008430 (Anterior beaking of lumbar vertebrae)\n", + " \n", + " \n", + " #Anterior tongue-like protrusion of lumbar vertebral bodies\n", + " definition of HP:0008430 (Anterior beaking of lumbar vertebrae)\n", + " \n", + " \n", + " Elevated urinary uridine level\n", + " definition of HP:0032574 (Elevated urinary uridine level)\n", + " \n", + " \n", + " Increased levels of urinary uridine, a ribonucleoside composed of a molecule of uracil attached to a ribofuranose moiety via a beta-N1 glycosidic bond.\n", + " definition of HP:0032574 (Elevated urinary uridine level)\n", + " \n", + " \n", + " #Elevated uridine in urine\n", + " definition of HP:0032574 (Elevated urinary uridine level)\n", + " \n", + " \n", + " Abnormal dermoepidermal junction morphology\n", + " definition of HP:0031538 (Abnormal dermoepidermal junction morphology)\n", + " \n", + " \n", + " Any anomaly of the structure of the acellular zone that is between the dermis and the epidermis and which functions to bind the epidermis to the dermis and to serve as a selective barrier allowing the control of molecular and cellular exchanges between the two compartments.\n", + " definition of HP:0031538 (Abnormal dermoepidermal junction morphology)\n", + " \n", + " \n", + " Imprinted\n", + " definition of HP:0034338 (Imprinted)\n", + " \n", + " \n", + " Requires that the abnormal allele be paternal or maternal in origin, depending on the disease-gene relationship. Imprinting refers to a normal developmental process in which either the paternal or maternal allele is inactivated, depending on the specific locus, thus leading to expression from only one copy of the gene. Disease typically manifests when a deleterious variant is inherited from a parent whose copy of the gene would normally be expressed, but not when a deleterious variant is inherited from a parent whose copy of the gene would normally be inactivated.\n", + " definition of HP:0034338 (Imprinted)\n", + " \n", + " \n", + " Rokitansky-Aschoff gallbladder sinuses\n", + " definition of HP:6000450 (Rokitansky-Aschoff gallbladder sinuses)\n", + " \n", + " \n", + " Localized or diffuse epithelial proliferation with hypertrophy of the muscularis layer and invagination of the mucosa through the muscularis, forming intramural diverticula (i.e., small, bulging pouches in the wall of the gallbladder).\n", + " definition of HP:6000450 (Rokitansky-Aschoff gallbladder sinuses)\n", + " \n", + " \n", + " #Adenomyomatosis of the gallbladder #Epithelial invaginations of the gallbladder forming cystic pockets\n", + " definition of HP:6000450 (Rokitansky-Aschoff gallbladder sinuses)\n", + " \n", + " \n", + " Abnormal superior rectus muscle physiology\n", + " definition of HP:0025603 (Abnormal superior rectus muscle physiology)\n", + " \n", + " \n", + " A functional anomaly of the superior rectus muscle, an extraocular muscle that is innervated by the superior division of the oculomotor nerve, and whose primary function is the elevation of the globe.\n", + " definition of HP:0025603 (Abnormal superior rectus muscle physiology)\n", + " \n", + " \n", + " Abnormal temper tantrums\n", + " definition of HP:0025160 (Abnormal temper tantrums)\n", + " \n", + " \n", + " Temper tantrums are brief episodes of extreme, unpleasant, and sometimes aggressive behaviors in response to frustration or anger, which are a normal part of development in toddlers. Temper tantrums that occur more frequently in a given time and/or are more severe in symptomatology and/or longer in duration and/or inappropriate for the given age compared to a temper tantrum that naturally occurs as a part of the developmental process are classified as abnormal temper tantrums.\n", + " definition of HP:0025160 (Abnormal temper tantrums)\n", + " \n", + " \n", + " Cafe-au-lait spot\n", + " definition of HP:0000957 (Cafe-au-lait spot)\n", + " \n", + " \n", + " Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children.\n", + " definition of HP:0000957 (Cafe-au-lait spot)\n", + " \n", + " \n", + " #Cafe au lait spots #Cafe-au-lait macule #Cafe-au-lait macules\n", + " definition of HP:0000957 (Cafe-au-lait spot)\n", + " \n", + " \n", + " Hyperechogenic kidneys\n", + " definition of HP:0004719 (Hyperechogenic kidneys)\n", + " \n", + " \n", + " An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal.\n", + " definition of HP:0004719 (Hyperechogenic kidneys)\n", + " \n", + " \n", + " #Echogenic kidneys #Increased echogenicity of the renal parenchyma\n", + " definition of HP:0004719 (Hyperechogenic kidneys)\n", + " \n", + " \n", + " Anti-laminin 6 antibody positivity\n", + " definition of HP:4000022 (Anti-laminin 6 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against laminin-6.\n", + " definition of HP:4000022 (Anti-laminin 6 antibody positivity)\n", + " \n", + " \n", + " Rhabdoid tumor of the ovary\n", + " definition of HP:0034558 (Rhabdoid tumor of the ovary)\n", + " \n", + " \n", + " A highly aggressive, extremely rare neoplasm of the ovary that is usually seen in children. The term rhabdoid is used because the tumor cells resemble rhabdomyoblasts but lack myogenic markers.\n", + " definition of HP:0034558 (Rhabdoid tumor of the ovary)\n", + " \n", + " \n", + " Single trichilemmoma\n", + " definition of HP:0012845 (Single trichilemmoma)\n", + " \n", + " \n", + " Presence of a unitary trichilemmoma, a benign tumor originating from the outer root sheath of the hair follicle.\n", + " definition of HP:0012845 (Single trichilemmoma)\n", + " \n", + " \n", + " Angioma serpentinum\n", + " definition of HP:0025108 (Angioma serpentinum)\n", + " \n", + " \n", + " Angioma serpiginosum consists of punctate, tightly packed telangiectatic lesions. Characteristic histopathological features are dilated and tortuous capillaries involving the uppermost part of the dermis.\n", + " definition of HP:0025108 (Angioma serpentinum)\n", + " \n", + " \n", + " Abnormality of the skeletal system\n", + " definition of HP:0000924 (Abnormality of the skeletal system)\n", + " \n", + " \n", + " An abnormality of the skeletal system.\n", + " definition of HP:0000924 (Abnormality of the skeletal system)\n", + " \n", + " \n", + " #Abnormality of the skeletal system #Skeletal abnormalities #Skeletal anomalies\n", + " definition of HP:0000924 (Abnormality of the skeletal system)\n", + " \n", + " \n", + " Positive bloodstream HIV p24 antigen test\n", + " definition of HP:6000798 (Positive bloodstream HIV p24 antigen test)\n", + " \n", + " \n", + " Demonstration of the p24 antigen of human immunodeficiency virus in the bloodstream.\n", + " definition of HP:6000798 (Positive bloodstream HIV p24 antigen test)\n", + " \n", + " \n", + " Triggered by angiotensin-converting enzyme inhibitor\n", + " definition of HP:4000133 (Triggered by angiotensin-converting enzyme inhibitor)\n", + " \n", + " \n", + " Applies to a sign or symptom that is provoked or brought about by exposure to anngiotensin-converting enzyme inhibitor such as benazepril, captopril, enalapril, fosinopril, and lisinopril.\n", + " definition of HP:4000133 (Triggered by angiotensin-converting enzyme inhibitor)\n", + " \n", + " \n", + " #ACE inhibitors trigger attacks\n", + " definition of HP:4000133 (Triggered by angiotensin-converting enzyme inhibitor)\n", + " \n", + " \n", + " Femoroacetabular impingement\n", + " definition of HP:0030883 (Femoroacetabular impingement)\n", + " \n", + " \n", + " Femoroacetabular impingement (FAI) results from one or more bony abnormalities that lead to abnormal contact between the acetabulum and the femoral head or neck. The femoral abnormality is proposed to cause compression and shear stresses in the region between the labrum and cartilage, anterosuperiorly. These stresses cause a separation between the labrum and cartilage as the labrum is pushed outwards and the cartilage is pushed centrally. This eventually leads to articular degeneration and eventually global hip osteoarthritis.\n", + " definition of HP:0030883 (Femoroacetabular impingement)\n", + " \n", + " \n", + " #Femoral acetabular impingement\n", + " definition of HP:0030883 (Femoroacetabular impingement)\n", + " \n", + " \n", + " Short third metatarsal\n", + " definition of HP:0004686 (Short third metatarsal)\n", + " \n", + " \n", + " Underdevelopment of the Third metatarsal bone leading to a short (hypoplastic) third metatarsal bone.\n", + " definition of HP:0004686 (Short third metatarsal)\n", + " \n", + " \n", + " #Hypoplasia of the 3rd metatarsal bone #Short 3rd long bone of foot\n", + " definition of HP:0004686 (Short third metatarsal)\n", + " \n", + " \n", + " Typified by age-related disease onset\n", + " definition of HP:0003831 (Typified by age-related disease onset)\n", + " \n", + " \n", + " Description of conditions in which age of onset is typically later in life and in which penetrance is dependent on the age of the subject.\n", + " definition of HP:0003831 (Typified by age-related disease onset)\n", + " \n", + " \n", + " #Age dependent penetrance #Age-dependent penetrance #Typified by age-related penetrance\n", + " definition of HP:0003831 (Typified by age-related disease onset)\n", + " \n", + " \n", + " Severe postnatal growth retardation\n", + " definition of HP:0008850 (Severe postnatal growth retardation)\n", + " \n", + " \n", + " Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms.\n", + " definition of HP:0008850 (Severe postnatal growth retardation)\n", + " \n", + " \n", + " #Marked growth retardation #Severe growth delay in children #Severe postnatal growth deficiency #Severe postnatal growth failure\n", + " definition of HP:0008850 (Severe postnatal growth retardation)\n", + " \n", + " \n", + " Xanthomas of the palmar creases\n", + " definition of HP:0025530 (Xanthomas of the palmar creases)\n", + " \n", + " \n", + " The presence of multiple xanthomas (xanthomata) in the skin distributed in the creases of the palm of the hand. Xanthomas are yellowish, firm, lipid-laden nodules in the skin.\n", + " definition of HP:0025530 (Xanthomas of the palmar creases)\n", + " \n", + " \n", + " #Xanthoma palmare striatum #Xanthoma striatum palmare\n", + " definition of HP:0025530 (Xanthomas of the palmar creases)\n", + " \n", + " \n", + " Elevated tissue sphingomyelin concentration\n", + " definition of HP:6000292 (Elevated tissue sphingomyelin concentration)\n", + " \n", + " \n", + " Concentration of sphoingomyelin in tissues above the upper limit of normal.\n", + " definition of HP:6000292 (Elevated tissue sphingomyelin concentration)\n", + " \n", + " \n", + " Abnormality of complement system\n", + " definition of HP:0005339 (Abnormality of complement system)\n", + " \n", + " \n", + " An abnormality of the complement system.\n", + " definition of HP:0005339 (Abnormality of complement system)\n", + " \n", + " \n", + " Thoracic aortic aneurysm\n", + " definition of HP:0012727 (Thoracic aortic aneurysm)\n", + " \n", + " \n", + " An abnormal localized widening (dilatation) of the thoracic aorta.\n", + " definition of HP:0012727 (Thoracic aortic aneurysm)\n", + " \n", + " \n", + " Triggered by exertion\n", + " definition of HP:0025377 (Triggered by exertion)\n", + " \n", + " \n", + " Applies to a sign or symptom that is provoked or brought about by exertion or physical exercise.\n", + " definition of HP:0025377 (Triggered by exertion)\n", + " \n", + " \n", + " #Exertion triggered symptoms #Triggered by physical exercise\n", + " definition of HP:0025377 (Triggered by exertion)\n", + " \n", + " \n", + " Thickened cortex of the mandible\n", + " definition of HP:6000937 (Thickened cortex of the mandible)\n", + " \n", + " \n", + " Abnormal thickening of the cortex of the mandible.\n", + " definition of HP:6000937 (Thickened cortex of the mandible)\n", + " \n", + " \n", + " #Broad cortex of mandible #Cortical thickening of the mandible #Thickened cortices of mandible\n", + " definition of HP:6000937 (Thickened cortex of the mandible)\n", + " \n", + " \n", + " Cachexia\n", + " definition of HP:0004326 (Cachexia)\n", + " \n", + " \n", + " Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease.\n", + " definition of HP:0004326 (Cachexia)\n", + " \n", + " \n", + " #Wasting syndrome\n", + " definition of HP:0004326 (Cachexia)\n", + " \n", + " \n", + " Reduced delayed hypersensitivity\n", + " definition of HP:0002972 (Reduced delayed hypersensitivity)\n", + " \n", + " \n", + " Decreased ability to react to a delayed hypersensitivity skin test.\n", + " definition of HP:0002972 (Reduced delayed hypersensitivity)\n", + " \n", + " \n", + " #Decreased reactivity to skin test antigens #Deficiency of delayed skin hypersensitivity #Impaired delayed hypersensitivity\n", + " definition of HP:0002972 (Reduced delayed hypersensitivity)\n", + " \n", + " \n", + " T cell chronic lymphocytic lymphoma/leukemia\n", + " definition of HP:0005539 (T cell chronic lymphocytic lymphoma/leukemia)\n", + " \n", + " \n", + " A form of lymphoid leukemia or lymphoma in which too many T-cell lymphoblasts are found in the blood, bone marrow, and tissues. Leukemia or lymphoma classification depends on which feature is more prominent.\n", + " definition of HP:0005539 (T cell chronic lymphocytic lymphoma/leukemia)\n", + " \n", + " \n", + " Uveitis\n", + " definition of HP:0000554 (Uveitis)\n", + " \n", + " \n", + " Inflammation of one or all portions of the uveal tract.\n", + " definition of HP:0000554 (Uveitis)\n", + " \n", + " \n", + " Pustule\n", + " definition of HP:0200039 (Pustule)\n", + " \n", + " \n", + " A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells.\n", + " definition of HP:0200039 (Pustule)\n", + " \n", + " \n", + " #Pimple #Pustula #Pustular lesion #Pustules #Skin pustule #Skin pustules\n", + " definition of HP:0200039 (Pustule)\n", + " \n", + " \n", + " Cavitating pulmonary mass\n", + " definition of HP:0033831 (Cavitating pulmonary mass)\n", + " \n", + " \n", + " Thick-walled abnormal gas-filled interstitial mass within a lung with a diameter greater than 30 mm.\n", + " definition of HP:0033831 (Cavitating pulmonary mass)\n", + " \n", + " \n", + " Elevated circulating glutarylcarnitine concentration\n", + " definition of HP:0033442 (Elevated circulating glutarylcarnitine concentration)\n", + " \n", + " \n", + " Concentration of glutarylcarnitine in the blood circulation above the upper limit of normal.\n", + " definition of HP:0033442 (Elevated circulating glutarylcarnitine concentration)\n", + " \n", + " \n", + " #Elevated circulating C5-DC acylcarnitine concentration #Elevated circulating O-glutarylcarnitine concentration #Elevated plasma glutarylcarnitine, C5-DC\n", + " definition of HP:0033442 (Elevated circulating glutarylcarnitine concentration)\n", + " \n", + " \n", + " Demyelinating peripheral neuropathy\n", + " definition of HP:0007108 (Demyelinating peripheral neuropathy)\n", + " \n", + " \n", + " Demyelinating neuropathy is characterized by slow nerve conduction velocities with reduced amplitudes of sensory/motor nerve conduction and prolonged distal latencies.\n", + " definition of HP:0007108 (Demyelinating peripheral neuropathy)\n", + " \n", + " \n", + " Dilated fourth ventricle\n", + " definition of HP:0002198 (Dilated fourth ventricle)\n", + " \n", + " \n", + " An abnormal dilatation of the fourth cerebral ventricle.\n", + " definition of HP:0002198 (Dilated fourth ventricle)\n", + " \n", + " \n", + " #Enlarged fourth ventricle\n", + " definition of HP:0002198 (Dilated fourth ventricle)\n", + " \n", + " \n", + " Severe giardiasis\n", + " definition of HP:0020106 (Severe giardiasis)\n", + " \n", + " \n", + " An unusually severe infection due to Giardia lamblia, also called Giardia duodenalis or Giardia intestinalis, which is a protozoan parasite of the small intestine that causes extensive morbidity worldwide.\n", + " definition of HP:0020106 (Severe giardiasis)\n", + " \n", + " \n", + " Decreased finger mobility\n", + " definition of HP:0006135 (Decreased finger mobility)\n", + " \n", + " \n", + " #Decreased finger mobility #Decreased finger movement\n", + " definition of HP:0006135 (Decreased finger mobility)\n", + " \n", + " \n", + " Cervical vertebral dysplasia\n", + " definition of HP:0008469 (Cervical vertebral dysplasia)\n", + " \n", + " \n", + " Dysplasia of the cervical vertebral column.\n", + " definition of HP:0008469 (Cervical vertebral dysplasia)\n", + " \n", + " \n", + " Adrenocortical carcinoma\n", + " definition of HP:0006744 (Adrenocortical carcinoma)\n", + " \n", + " \n", + " A malignant neoplasm of the adrenal cortex that may produce hormones such as cortisol, aldosterone, estrogen, or testosterone.\n", + " definition of HP:0006744 (Adrenocortical carcinoma)\n", + " \n", + " \n", + " #Adrenal carcinoma #Adrenal gland carinoma\n", + " definition of HP:0006744 (Adrenocortical carcinoma)\n", + " \n", + " \n", + " Membranous ventricular septal aneurysm\n", + " definition of HP:0030958 (Membranous ventricular septal aneurysm)\n", + " \n", + " \n", + " Bowing (bulging out) of the membranous part of the interventricular septum of more than 10-15 mm into the cavity of an adjacent ventricle (usually into the right ventricle).\n", + " definition of HP:0030958 (Membranous ventricular septal aneurysm)\n", + " \n", + " \n", + " #Interventricular septum membranous part aneurysm\n", + " definition of HP:0030958 (Membranous ventricular septal aneurysm)\n", + " \n", + " \n", + " Short 3rd finger\n", + " definition of HP:0009461 (Short 3rd finger)\n", + " \n", + " \n", + " Hypoplastic/small 3rd (middle) finger.\n", + " definition of HP:0009461 (Short 3rd finger)\n", + " \n", + " \n", + " #Hypoplastic/small 3rd finger #Short 3rd finger #Short middle finger\n", + " definition of HP:0009461 (Short 3rd finger)\n", + " \n", + " \n", + " Abnormal breast morphology\n", + " definition of HP:0031093 (Abnormal breast morphology)\n", + " \n", + " \n", + " Any anomaly of the structure of the breast.\n", + " definition of HP:0031093 (Abnormal breast morphology)\n", + " \n", + " \n", + " Gastrostomy tube feeding in infancy\n", + " definition of HP:0011471 (Gastrostomy tube feeding in infancy)\n", + " \n", + " \n", + " Feeding problem necessitating gastrostomy tube feeding.\n", + " definition of HP:0011471 (Gastrostomy tube feeding in infancy)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the sacrum\n", + " definition of HP:0008517 (Aplasia/Hypoplasia of the sacrum)\n", + " \n", + " \n", + " Aplasia or developmental hypoplasia of the sacral bone.\n", + " definition of HP:0008517 (Aplasia/Hypoplasia of the sacrum)\n", + " \n", + " \n", + " #Absent/small sacrum #Absent/underdeveloped sacrum\n", + " definition of HP:0008517 (Aplasia/Hypoplasia of the sacrum)\n", + " \n", + " \n", + " Craniocervical junction constriction\n", + " definition of HP:6000920 (Craniocervical junction constriction)\n", + " \n", + " \n", + " Congenital or acquired abnormalities of the occipital bone, foramen magnum, or first two cervical vertebrae that decrease the space for the lower brain stem and cervical cord. These malformations can lead to cranial nerve compression, vertebral artery compression, and obstructive hydrocephalus.\n", + " definition of HP:6000920 (Craniocervical junction constriction)\n", + " \n", + " \n", + " #Tight craniocervical junction #Tight craniovertebral junction\n", + " definition of HP:6000920 (Craniocervical junction constriction)\n", + " \n", + " \n", + " Absent uvula\n", + " definition of HP:0010292 (Absent uvula)\n", + " \n", + " \n", + " Lack of the uvula.\n", + " definition of HP:0010292 (Absent uvula)\n", + " \n", + " \n", + " #Absent palatine uvula #Congenital absence of uvula #Missing uvula #Uvula aplasia\n", + " definition of HP:0010292 (Absent uvula)\n", + " \n", + " \n", + " Impaired pursuit initiation and maintenance\n", + " definition of HP:0007668 (Impaired pursuit initiation and maintenance)\n", + " \n", + " \n", + " Conical tooth\n", + " definition of HP:0000698 (Conical tooth)\n", + " \n", + " \n", + " An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally.\n", + " definition of HP:0000698 (Conical tooth)\n", + " \n", + " \n", + " #Cone shaped tooth #Conoid tooth #Peg shaped teeth #Peg tooth #Peg-shaped teeth #Shark tooth\n", + " definition of HP:0000698 (Conical tooth)\n", + " \n", + " \n", + " Coarse metaphyseal trabecularization\n", + " definition of HP:0100670 (Coarse metaphyseal trabecularization)\n", + " \n", + " \n", + " Coarse appearance of the components of the network of osseous tissue that makes up the cancellous structure of a bone, i.e., thickening of the (usually fine) white lines that are produced by trabeculae in radiograms.\n", + " definition of HP:0100670 (Coarse metaphyseal trabecularization)\n", + " \n", + " \n", + " #Coarse trabeculation at metaphyses #Rough bone trabeculation #Rough trabeculation of bone\n", + " definition of HP:0100670 (Coarse metaphyseal trabecularization)\n", + " \n", + " \n", + " Abnormal synovial bursa morphology\n", + " definition of HP:0025231 (Abnormal synovial bursa morphology)\n", + " \n", + " \n", + " A structural anomaly of a synovial bursa.\n", + " definition of HP:0025231 (Abnormal synovial bursa morphology)\n", + " \n", + " \n", + " #Abnormality of synovial bursa morphology\n", + " definition of HP:0025231 (Abnormal synovial bursa morphology)\n", + " \n", + " \n", + " Incomprehensible speech\n", + " definition of HP:0002546 (Incomprehensible speech)\n", + " \n", + " \n", + " #Incomprehensible speech\n", + " definition of HP:0002546 (Incomprehensible speech)\n", + " \n", + " \n", + " Borderline personality disorder\n", + " definition of HP:0012076 (Borderline personality disorder)\n", + " \n", + " \n", + " A personality disorder characterized by impulsive behavior and unpredictable, capricious mood. Affected individuals show a tendency to have outbursts of emotion and an inability to control these behavioral explosions. They generally experience an intense fear of abandonment or instability and also struggle with feelings of emptiness.\n", + " definition of HP:0012076 (Borderline personality disorder)\n", + " \n", + " \n", + " #BPD #Emotionally unstable personality disorder #EUPD\n", + " definition of HP:0012076 (Borderline personality disorder)\n", + " \n", + " \n", + " Horizontal inferior border of scapula\n", + " definition of HP:0031233 (Horizontal inferior border of scapula)\n", + " \n", + " \n", + " A morphological abnormality of the scapula in which there is a flat (horizontal) inferior edge of the scapula. The entire scapula is said to resemble a square, leading to the designation sqaring of the scapula (in Figure 1 of PMID:24706940 the scapulae have a roughly rectangular shape).\n", + " definition of HP:0031233 (Horizontal inferior border of scapula)\n", + " \n", + " \n", + " #Squaring of the inferior scapulae #Squaring of the scapula\n", + " definition of HP:0031233 (Horizontal inferior border of scapula)\n", + " \n", + " \n", + " Abnormal heart morphology\n", + " definition of HP:0001627 (Abnormal heart morphology)\n", + " \n", + " \n", + " Any structural anomaly of the heart.\n", + " definition of HP:0001627 (Abnormal heart morphology)\n", + " \n", + " \n", + " #Abnormality of cardiac morphology #Abnormality of the heart #Abnormally shaped heart #Cardiac abnormality #Cardiac anomalies #Cardiac anomaly #Congenital heart defect #Congenital heart defects #Heart defect\n", + " definition of HP:0001627 (Abnormal heart morphology)\n", + " \n", + " \n", + " Autosomal dominant inheritance with maternal imprinting\n", + " definition of HP:0012275 (Autosomal dominant inheritance with maternal imprinting)\n", + " \n", + " \n", + " A type of autosomal dominant inheritance involving a gene that is imprinted with maternal silencing.\n", + " definition of HP:0012275 (Autosomal dominant inheritance with maternal imprinting)\n", + " \n", + " \n", + " Vulvar intraepithelial neoplasia\n", + " definition of HP:0032202 (Vulvar intraepithelial neoplasia)\n", + " \n", + " \n", + " Vulvar intraepithelial neoplasia (VIN) is widely accepted as the precursor lesion of vulvar squamous cell carcinoma (VSCC). VSCC arises via either a human papilloma virus (HPV)-associated pathway, or more commonly, via a mechanism independent of HPV, often being linked to chronic inflammatory conditions such as lichen sclerosus (LS). Accordingly, two distinct subtypes of VIN are recognized: the HPV-associated high-grade squamous intraepithelial lesion/usual VIN (HSIL/uVIN) and the non-HPV-associated differentiated VIN (dVIN). HSIL is clinically identified by its multifocal, warty appearance and on histology by conspicuous cytological and architectural atypia. Differentiated VIN, on the other hand, often produces ill-defined lesions, and on histology, notoriously mimics non-neoplastic epithelial disorders (NNED), particularly LS. As a result, dVIN is rarely identified in advance of a diagnosis of invasive malignancy, despite being the precursor lesion of the majority of VSCC.\n", + " definition of HP:0032202 (Vulvar intraepithelial neoplasia)\n", + " \n", + " \n", + " Abnormal circulating methionine concentration\n", + " definition of HP:0010901 (Abnormal circulating methionine concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of methionine in the blood circulation.\n", + " definition of HP:0010901 (Abnormal circulating methionine concentration)\n", + " \n", + " \n", + " #Abnormality of methionine metabolism\n", + " definition of HP:0010901 (Abnormal circulating methionine concentration)\n", + " \n", + " \n", + " Positive bloodstream Borrelia miyamotoi nucleic acid test\n", + " definition of HP:6000907 (Positive bloodstream Borrelia miyamotoi nucleic acid test)\n", + " \n", + " \n", + " Detection of nucleic acid of Borrelia miyamotoi in the blood circulation by a method such as polymerase chain reaction (PCR).\n", + " definition of HP:6000907 (Positive bloodstream Borrelia miyamotoi nucleic acid test)\n", + " \n", + " \n", + " Neonatal electro-clinical tonic seizure\n", + " definition of HP:0032821 (Neonatal electro-clinical tonic seizure)\n", + " \n", + " \n", + " Neonatal electro-clinical tonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is a sustained increase in muscle tone, usually focal, that can be unilateral or bilateral, and lasting a few seconds to minutes.\n", + " definition of HP:0032821 (Neonatal electro-clinical tonic seizure)\n", + " \n", + " \n", + " Dermal sinus tract\n", + " definition of HP:0020223 (Dermal sinus tract)\n", + " \n", + " \n", + " A dermal sinus tract is an abnormality present at birth over the dorsal midline where an abnormal epithelialized connection from the skin tracks inwards towards the spine, most commonly seen in the lumbosacral region.\n", + " definition of HP:0020223 (Dermal sinus tract)\n", + " \n", + " \n", + " Osteoarthritis of the elbow\n", + " definition of HP:0003940 (Osteoarthritis of the elbow)\n", + " \n", + " \n", + " Exudative vitreoretinopathy\n", + " definition of HP:0030490 (Exudative vitreoretinopathy)\n", + " \n", + " \n", + " Facial expressions not directed to others\n", + " definition of HP:5200100 (Facial expressions not directed to others)\n", + " \n", + " \n", + " Sclerosis of the proximal phalanx of the 5th finger\n", + " definition of HP:0100911 (Sclerosis of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " #Increased bone density in innermost little finger bone #Increased bone density in innermost pinkie finger bone #Increased bone density in innermost pinky finger bone\n", + " definition of HP:0100911 (Sclerosis of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " Distal peripheral sensory neuropathy\n", + " definition of HP:0007067 (Distal peripheral sensory neuropathy)\n", + " \n", + " \n", + " Peripheral sensory neuropathy affecting primarily distal sensation.\n", + " definition of HP:0007067 (Distal peripheral sensory neuropathy)\n", + " \n", + " \n", + " #Peripheral sensory neuropathy, distal\n", + " definition of HP:0007067 (Distal peripheral sensory neuropathy)\n", + " \n", + " \n", + " Biconcave vertebral bodies\n", + " definition of HP:0004586 (Biconcave vertebral bodies)\n", + " \n", + " \n", + " Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward.\n", + " definition of HP:0004586 (Biconcave vertebral bodies)\n", + " \n", + " \n", + " #Biconcave 'codfish' vertebrae #Biconcave vertebrae #Codfish vertebrae #Fish vertebrae #Scalloping of vertebral bodies\n", + " definition of HP:0004586 (Biconcave vertebral bodies)\n", + " \n", + " \n", + " Anti-Ro52/TRIM21 antibody positivity\n", + " definition of HP:0034093 (Anti-Ro52/TRIM21 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ro52/TRIM21.\n", + " definition of HP:0034093 (Anti-Ro52/TRIM21 antibody positivity)\n", + " \n", + " \n", + " #Anti-Ro52 antibody positivity\n", + " definition of HP:0034093 (Anti-Ro52/TRIM21 antibody positivity)\n", + " \n", + " \n", + " Abnormal thalamic MRI signal intensity\n", + " definition of HP:0012696 (Abnormal thalamic MRI signal intensity)\n", + " \n", + " \n", + " A deviation from normal signal on magnetic resonance imaging (MRI) of the thalamus.\n", + " definition of HP:0012696 (Abnormal thalamic MRI signal intensity)\n", + " \n", + " \n", + " Abnormal intermamillary distance\n", + " definition of HP:0040157 (Abnormal intermamillary distance)\n", + " \n", + " \n", + " Sleep abnormality\n", + " definition of HP:0002360 (Sleep abnormality)\n", + " \n", + " \n", + " An abnormal pattern in the quality, quantity, or characteristics of sleep.\n", + " definition of HP:0002360 (Sleep abnormality)\n", + " \n", + " \n", + " #Difficulty sleeping #Sleep disturbance #Sleep disturbances #Sleep dysfunction #Trouble sleeping\n", + " definition of HP:0002360 (Sleep abnormality)\n", + " \n", + " \n", + " Abnormal circulating vitamin B12 concentration\n", + " definition of HP:0040126 (Abnormal circulating vitamin B12 concentration)\n", + " \n", + " \n", + " A deviation from the normal concentration of cobalamin (vitamin B12) in the blood. Vitamin B12 is one of the eight B vitamins.\n", + " definition of HP:0040126 (Abnormal circulating vitamin B12 concentration)\n", + " \n", + " \n", + " #Abnormal serum cobalamin level #Abnormal vitamin B12 level\n", + " definition of HP:0040126 (Abnormal circulating vitamin B12 concentration)\n", + " \n", + " \n", + " Monochromacy\n", + " definition of HP:0007803 (Monochromacy)\n", + " \n", + " \n", + " Complete color blindness, a complete inability to distinguish colors. Affected persons cannot perceive colors, but only shades of gray.\n", + " definition of HP:0007803 (Monochromacy)\n", + " \n", + " \n", + " #Complete achromatopsia\n", + " definition of HP:0007803 (Monochromacy)\n", + " \n", + " \n", + " Retinopathy of prematurity stage 2\n", + " definition of HP:0500051 (Retinopathy of prematurity stage 2)\n", + " \n", + " \n", + " The accumulating neovascularization thickens and manifests as a linear bump. The neovascularization remains along the surface of the retina and does not extend off the retina into the cortical vitreous.\n", + " definition of HP:0500051 (Retinopathy of prematurity stage 2)\n", + " \n", + " \n", + " #ROP stage 2\n", + " definition of HP:0500051 (Retinopathy of prematurity stage 2)\n", + " \n", + " \n", + " Absent right sided atrioventricular connection\n", + " definition of HP:0011548 (Absent right sided atrioventricular connection)\n", + " \n", + " \n", + " A defect where there is no connection between the right atrium and right ventricle.\n", + " definition of HP:0011548 (Absent right sided atrioventricular connection)\n", + " \n", + " \n", + " #Absent right sided atrioventricular connexion\n", + " definition of HP:0011548 (Absent right sided atrioventricular connection)\n", + " \n", + " \n", + " Bowed forearm bones\n", + " definition of HP:0003956 (Bowed forearm bones)\n", + " \n", + " \n", + " A bending or abnormal curvature affecting either the radius, the ulna, or both.\n", + " definition of HP:0003956 (Bowed forearm bones)\n", + " \n", + " \n", + " #Bowed forearm bones\n", + " definition of HP:0003956 (Bowed forearm bones)\n", + " \n", + " \n", + " Abnormal proportion of immature B cells\n", + " definition of HP:0030376 (Abnormal proportion of immature B cells)\n", + " \n", + " \n", + " A deviation from normal proportion of immature B cells (CD19+/ CD21low) in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+).\n", + " definition of HP:0030376 (Abnormal proportion of immature B cells)\n", + " \n", + " \n", + " #Abnormal proportion of CD19+/CD21low B cells\n", + " definition of HP:0030376 (Abnormal proportion of immature B cells)\n", + " \n", + " \n", + " Periocular capillary hemangioma\n", + " definition of HP:0500090 (Periocular capillary hemangioma)\n", + " \n", + " \n", + " A capillary hemangioma surrounding the eyeball but within the orbit.\n", + " definition of HP:0500090 (Periocular capillary hemangioma)\n", + " \n", + " \n", + " #Peri-ocular capillary hemangioma\n", + " definition of HP:0500090 (Periocular capillary hemangioma)\n", + " \n", + " \n", + " Exostoses of the radial metaphysis\n", + " definition of HP:0004017 (Exostoses of the radial metaphysis)\n", + " \n", + " \n", + " Renal arteriole intima/media crystal accumulation\n", + " definition of HP:0033947 (Renal arteriole intima/media crystal accumulation)\n", + " \n", + " \n", + " Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arterioles of the kidney.\n", + " definition of HP:0033947 (Renal arteriole intima/media crystal accumulation)\n", + " \n", + " \n", + " #Accumulated crystals within renal arteriolar intima/media\n", + " definition of HP:0033947 (Renal arteriole intima/media crystal accumulation)\n", + " \n", + " \n", + " Sclerosis of the carpal bones\n", + " definition of HP:0500031 (Sclerosis of the carpal bones)\n", + " \n", + " \n", + " An elevation in bone density in one or more carpal bones of the hand.\n", + " definition of HP:0500031 (Sclerosis of the carpal bones)\n", + " \n", + " \n", + " Aplasia of the 2nd metacarpal\n", + " definition of HP:0010037 (Aplasia of the 2nd metacarpal)\n", + " \n", + " \n", + " Absence of the second long bone of the hand.\n", + " definition of HP:0010037 (Aplasia of the 2nd metacarpal)\n", + " \n", + " \n", + " #Absent 2nd long bone of hand\n", + " definition of HP:0010037 (Aplasia of the 2nd metacarpal)\n", + " \n", + " \n", + " Reduced blood 5-methyltetrahydrofolate level\n", + " definition of HP:0410217 (Reduced blood 5-methyltetrahydrofolate level)\n", + " \n", + " \n", + " A decreased concentration of 5-methyltetrahydrofolate in the blood.\n", + " definition of HP:0410217 (Reduced blood 5-methyltetrahydrofolate level)\n", + " \n", + " \n", + " #Reduced serum methylfolate Level\n", + " definition of HP:0410217 (Reduced blood 5-methyltetrahydrofolate level)\n", + " \n", + " \n", + " Positive blood acetaminophen test\n", + " definition of HP:0410283 (Positive blood acetaminophen test)\n", + " \n", + " \n", + " Detection of acetaminophen in the blood.\n", + " definition of HP:0410283 (Positive blood acetaminophen test)\n", + " \n", + " \n", + " #Positive blood paracetamol test #Positive blood Tylenol test\n", + " definition of HP:0410283 (Positive blood acetaminophen test)\n", + " \n", + " \n", + " Chronic sensorineural polyneuropathy\n", + " definition of HP:0001301 (Chronic sensorineural polyneuropathy)\n", + " \n", + " \n", + " Jejunal atresia\n", + " definition of HP:0005235 (Jejunal atresia)\n", + " \n", + " \n", + " A developmental defect resulting in abnormal closure, or atresia of the tubular structure of the jejunum.\n", + " definition of HP:0005235 (Jejunal atresia)\n", + " \n", + " \n", + " Triceps hyporeflexia\n", + " definition of HP:0033200 (Triceps hyporeflexia)\n", + " \n", + " \n", + " Reduced intensity of the triceps tendon reflex.\n", + " definition of HP:0033200 (Triceps hyporeflexia)\n", + " \n", + " \n", + " #Hyporeflexia of triceps\n", + " definition of HP:0033200 (Triceps hyporeflexia)\n", + " \n", + " \n", + " Segmental peripheral demyelination\n", + " definition of HP:0007107 (Segmental peripheral demyelination)\n", + " \n", + " \n", + " A loss of myelin from the internode regions along myelinated nerve fibers from segments of the peripheral nervous system.\n", + " definition of HP:0007107 (Segmental peripheral demyelination)\n", + " \n", + " \n", + " Decreased urine output\n", + " definition of HP:0011037 (Decreased urine output)\n", + " \n", + " \n", + " A decreased rate of urine production.\n", + " definition of HP:0011037 (Decreased urine output)\n", + " \n", + " \n", + " Popliteal synovial cyst\n", + " definition of HP:0032072 (Popliteal synovial cyst)\n", + " \n", + " \n", + " A fluid-filled mass that is a distention of a preexisting bursa in the popliteal fossa, most commonly the gastrocnemio-semimembranosus bursa. This bursa is unique in that it communicates with the knee joint, unlike other periarticular bursae, via an opening in the joint capsule posterior to the medial femoral condyle.\n", + " definition of HP:0032072 (Popliteal synovial cyst)\n", + " \n", + " \n", + " #Baker's cyst\n", + " definition of HP:0032072 (Popliteal synovial cyst)\n", + " \n", + " \n", + " Waxy casts\n", + " definition of HP:0031202 (Waxy casts)\n", + " \n", + " \n", + " A type of acellular urinary casts that display a melted wax (waxy) appearance, which gives them a high refractive index. They are frequently dark, with blunt extremities, indented and cracked edges and a large size, which is often several times that of other types of casts.\n", + " definition of HP:0031202 (Waxy casts)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the phalanges of the 3rd finger\n", + " definition of HP:0009447 (Aplasia/Hypoplasia of the phalanges of the 3rd finger)\n", + " \n", + " \n", + " #Absent/small middle finger bone #Absent/underdeveloped middle finger bone #Hypoplastic middle finger phalanges #Short middle finger phalanges #Small middle finger phalanges\n", + " definition of HP:0009447 (Aplasia/Hypoplasia of the phalanges of the 3rd finger)\n", + " \n", + " \n", + " Abnormality of dental structure\n", + " definition of HP:0011061 (Abnormality of dental structure)\n", + " \n", + " \n", + " An abnormality of the structure or composition of the teeth.\n", + " definition of HP:0011061 (Abnormality of dental structure)\n", + " \n", + " \n", + " #Abnormality of tooth part #Abnormality of tooth structure\n", + " definition of HP:0011061 (Abnormality of dental structure)\n", + " \n", + " \n", + " Decreased circulating carnosine concentration\n", + " definition of HP:0500162 (Decreased circulating carnosine concentration)\n", + " \n", + " \n", + " A decreased amount of carnosine in blood.\n", + " definition of HP:0500162 (Decreased circulating carnosine concentration)\n", + " \n", + " \n", + " #Decreased blood carnosine concentration #Decreased level of carnosine in blood #Low blood carnosine levels\n", + " definition of HP:0500162 (Decreased circulating carnosine concentration)\n", + " \n", + " \n", + " Subretinal deposits\n", + " definition of HP:0031528 (Subretinal deposits)\n", + " \n", + " \n", + " Deposits accumulating between the outer retina and the retinal pigment epithelium.\n", + " definition of HP:0031528 (Subretinal deposits)\n", + " \n", + " \n", + " Decreased circulating complement C3 concentration\n", + " definition of HP:0005421 (Decreased circulating complement C3 concentration)\n", + " \n", + " \n", + " Concentration of the complement component C3 in the blood circulation below the lower limit of normal.\n", + " definition of HP:0005421 (Decreased circulating complement C3 concentration)\n", + " \n", + " \n", + " #Decreased serum C3 #Decreased serum complement C3 #Decreased serum complement C3 level\n", + " definition of HP:0005421 (Decreased circulating complement C3 concentration)\n", + " \n", + " \n", + " Depletion of mitochondrial DNA in liver\n", + " definition of HP:0006581 (Depletion of mitochondrial DNA in liver)\n", + " \n", + " \n", + " An abnormal reduction in the number of mitochondria in hepatocytes.\n", + " definition of HP:0006581 (Depletion of mitochondrial DNA in liver)\n", + " \n", + " \n", + " Transthyretin cardiac amyloidosis\n", + " definition of HP:0031327 (Transthyretin cardiac amyloidosis)\n", + " \n", + " \n", + " A type of cardiac amyloidosis related to deposition of transthyretin (TTR), which is identified by immunohistochemical staining.\n", + " definition of HP:0031327 (Transthyretin cardiac amyloidosis)\n", + " \n", + " \n", + " #TTR cardiac amyloidosis\n", + " definition of HP:0031327 (Transthyretin cardiac amyloidosis)\n", + " \n", + " \n", + " Aplasia of facial bones\n", + " definition of HP:0040008 (Aplasia of facial bones)\n", + " \n", + " \n", + " #Absence of facial bones #Agenesis of facial bones #Aplasia of facial skeleton #Failure of development of facial bones\n", + " definition of HP:0040008 (Aplasia of facial bones)\n", + " \n", + " \n", + " Abnormal digit morphology\n", + " definition of HP:0011297 (Abnormal digit morphology)\n", + " \n", + " \n", + " A morphological abnormality of a digit, i.e., of a finger or toe.\n", + " definition of HP:0011297 (Abnormal digit morphology)\n", + " \n", + " \n", + " #Abnormality of digit #Abnormality of fingers or toes #Digital anomalies\n", + " definition of HP:0011297 (Abnormal digit morphology)\n", + " \n", + " \n", + " Curved 5th toe phalanx\n", + " definition of HP:0010386 (Curved 5th toe phalanx)\n", + " \n", + " \n", + " A deviation from the normal straight form of one or more phalanges of the fifth toe.\n", + " definition of HP:0010386 (Curved 5th toe phalanx)\n", + " \n", + " \n", + " #Curved little toe bones #Curved phalanges of the 5th toe #Curved pinkie toe bones #Curved pinky toe bones\n", + " definition of HP:0010386 (Curved 5th toe phalanx)\n", + " \n", + " \n", + " Reduced epidermal kindlin-1 expression\n", + " definition of HP:6000714 (Reduced epidermal kindlin-1 expression)\n", + " \n", + " \n", + " Lower than normal amount of kindlin-1 in the epidermis.\n", + " definition of HP:6000714 (Reduced epidermal kindlin-1 expression)\n", + " \n", + " \n", + " Arcuate artery intima/media coagulative necrosis\n", + " definition of HP:0033932 (Arcuate artery intima/media coagulative necrosis)\n", + " \n", + " \n", + " A type of arcuate artery intima/media necrosis in which the necrotic tissue retains the outlines of the dead (necrotic) structures.\n", + " definition of HP:0033932 (Arcuate artery intima/media coagulative necrosis)\n", + " \n", + " \n", + " #Coagulative necrosis within interlobular arterial intima/media\n", + " definition of HP:0033932 (Arcuate artery intima/media coagulative necrosis)\n", + " \n", + " \n", + " Lumbar hypolordosis\n", + " definition of HP:0034770 (Lumbar hypolordosis)\n", + " \n", + " \n", + " Flattening of a curve in the spine in the lumbar (lower back) region.\n", + " definition of HP:0034770 (Lumbar hypolordosis)\n", + " \n", + " \n", + " #Reduced lumbar lordosis\n", + " definition of HP:0034770 (Lumbar hypolordosis)\n", + " \n", + " \n", + " Metaphyseal cupping\n", + " definition of HP:0003021 (Metaphyseal cupping)\n", + " \n", + " \n", + " Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance.\n", + " definition of HP:0003021 (Metaphyseal cupping)\n", + " \n", + " \n", + " Hypertrophy of the upper limb\n", + " definition of HP:0010484 (Hypertrophy of the upper limb)\n", + " \n", + " \n", + " Abnormal increase in size of the upper limbs (due to an increase of the size of cells).\n", + " definition of HP:0010484 (Hypertrophy of the upper limb)\n", + " \n", + " \n", + " #Increased size of upper limb\n", + " definition of HP:0010484 (Hypertrophy of the upper limb)\n", + " \n", + " \n", + " Tendon xanthomatosis\n", + " definition of HP:0010874 (Tendon xanthomatosis)\n", + " \n", + " \n", + " The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows).\n", + " definition of HP:0010874 (Tendon xanthomatosis)\n", + " \n", + " \n", + " #Tendon xanthomas\n", + " definition of HP:0010874 (Tendon xanthomatosis)\n", + " \n", + " \n", + " Focal impaired awareness manual automatism seizure\n", + " definition of HP:0032920 (Focal impaired awareness manual automatism seizure)\n", + " \n", + " \n", + " A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by manual automatisms at onset.\n", + " definition of HP:0032920 (Focal impaired awareness manual automatism seizure)\n", + " \n", + " \n", + " Abnormal malleus morphology\n", + " definition of HP:0011454 (Abnormal malleus morphology)\n", + " \n", + " \n", + " An abnormality of the malleus, an ossicle in the middle ear.\n", + " definition of HP:0011454 (Abnormal malleus morphology)\n", + " \n", + " \n", + " #Abnormality of the malleus\n", + " definition of HP:0011454 (Abnormal malleus morphology)\n", + " \n", + " \n", + " Short ear\n", + " definition of HP:0400005 (Short ear)\n", + " \n", + " \n", + " Median longitudinal ear length less than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear.\n", + " definition of HP:0400005 (Short ear)\n", + " \n", + " \n", + " #Short ear #Short ears\n", + " definition of HP:0400005 (Short ear)\n", + " \n", + " \n", + " Abnormal lacrimal duct morphology\n", + " definition of HP:0011481 (Abnormal lacrimal duct morphology)\n", + " \n", + " \n", + " An abnormality of the lacrimal duct, a duct that drain tears from the conjunctiva, via the lacrimal puncta, into the lacrimal sac.\n", + " definition of HP:0011481 (Abnormal lacrimal duct morphology)\n", + " \n", + " \n", + " #Abnormality of the lacrimal canaliculus #Abnormality of the lacrimal duct\n", + " definition of HP:0011481 (Abnormal lacrimal duct morphology)\n", + " \n", + " \n", + " Nut food product allergy\n", + " definition of HP:0410331 (Nut food product allergy)\n", + " \n", + " \n", + " Hypersensitivity in form of an adverse immune reaction against nut food products.\n", + " definition of HP:0410331 (Nut food product allergy)\n", + " \n", + " \n", + " #Allergy to nut food products #IgE-mediated nut food product allergy #Immunoglobulin E-mediated nut food product allergy #Nut allergy #Nut food product allergy\n", + " definition of HP:0410331 (Nut food product allergy)\n", + " \n", + " \n", + " Abnormality of the epiphyses of the distal phalanx of finger\n", + " definition of HP:0010243 (Abnormality of the epiphyses of the distal phalanx of finger)\n", + " \n", + " \n", + " Any anomaly of distal epiphysis of phalanx of finger.\n", + " definition of HP:0010243 (Abnormality of the epiphyses of the distal phalanx of finger)\n", + " \n", + " \n", + " #Abnormality of the end part of the outermost bone of finger\n", + " definition of HP:0010243 (Abnormality of the epiphyses of the distal phalanx of finger)\n", + " \n", + " \n", + " Juvenile gastrointestinal polyposis\n", + " definition of HP:0004784 (Juvenile gastrointestinal polyposis)\n", + " \n", + " \n", + " The presence of multiple juvenile polyps in the stomach and intestine. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands. Juvenile polyps are a specific type of hamartomatous polyps.\n", + " definition of HP:0004784 (Juvenile gastrointestinal polyposis)\n", + " \n", + " \n", + " #Juvenile GI polyposis\n", + " definition of HP:0004784 (Juvenile gastrointestinal polyposis)\n", + " \n", + " \n", + " Dagger-shaped pulp calcifications\n", + " definition of HP:0006302 (Dagger-shaped pulp calcifications)\n", + " \n", + " \n", + " Dagger-shaped calcifications in the dental pulp.\n", + " definition of HP:0006302 (Dagger-shaped pulp calcifications)\n", + " \n", + " \n", + " #Dagger shaped pulp denticles #Dagger shaped pulp stones\n", + " definition of HP:0006302 (Dagger-shaped pulp calcifications)\n", + " \n", + " \n", + " Scleral staphyloma\n", + " definition of HP:0030854 (Scleral staphyloma)\n", + " \n", + " \n", + " A staphyloma is a localized defect in the eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure.\n", + " definition of HP:0030854 (Scleral staphyloma)\n", + " \n", + " \n", + " #Staphyloma\n", + " definition of HP:0030854 (Scleral staphyloma)\n", + " \n", + " \n", + " Increased proportion of naive CD4 T cells\n", + " definition of HP:0410375 (Increased proportion of naive CD4 T cells)\n", + " \n", + " \n", + " #Elevated proportion of naive CD4 T cells #Increased proportion of CD4+CD45RA+ cells #Increased proportion of naive thymus-derived CD4-positive, alpha-beta T cells\n", + " definition of HP:0410375 (Increased proportion of naive CD4 T cells)\n", + " \n", + " \n", + " Punctate palmar hyperkeratosis\n", + " definition of HP:0007508 (Punctate palmar hyperkeratosis)\n", + " \n", + " \n", + " Tiny bumps of thickened skin (hyperkeratosis) on the palms of the hands.\n", + " definition of HP:0007508 (Punctate palmar hyperkeratosis)\n", + " \n", + " \n", + " Biliary epithelial hyperplasia\n", + " definition of HP:0030986 (Biliary epithelial hyperplasia)\n", + " \n", + " \n", + " Hyperplasia of lining epithelia of the septal and large bile ducts manifesting as micropapillary projections or as a stratification of the epithelium with or without dilatation of the duct lumen.\n", + " definition of HP:0030986 (Biliary epithelial hyperplasia)\n", + " \n", + " \n", + " Abnormal proportion of unswitched memory B cells\n", + " definition of HP:0032124 (Abnormal proportion of unswitched memory B cells)\n", + " \n", + " \n", + " A deviation of the normal proportion of unswitched memory B cells in circulation relative to the total number of B cells.\n", + " definition of HP:0032124 (Abnormal proportion of unswitched memory B cells)\n", + " \n", + " \n", + " #Abnormal proportion of non-class-switched memory B cells\n", + " definition of HP:0032124 (Abnormal proportion of unswitched memory B cells)\n", + " \n", + " \n", + " Acral lentiginous melanoma\n", + " definition of HP:0012060 (Acral lentiginous melanoma)\n", + " \n", + " \n", + " A type of cutaneous melanoma localized to the palm, sole, or beneath the nail (subungual melanoma). Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discolored skin and usually displays a size above 6 mm and often several centimeters or more in diameter upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. The surface of the lesion is initially smooth but later in the course may become thicker and irregular, and may ulcerate or bleed.\n", + " definition of HP:0012060 (Acral lentiginous melanoma)\n", + " \n", + " \n", + " Elevated urine mevalonic acid level\n", + " definition of HP:0032638 (Elevated urine mevalonic acid level)\n", + " \n", + " \n", + " An abnormally increased amount of mevanolate in the urine. Mevanolate is that hydroxy monocarboxylic acid anion that is the conjugate base of mevalonic acid.\n", + " definition of HP:0032638 (Elevated urine mevalonic acid level)\n", + " \n", + " \n", + " #Elevated urine mevalonate #Elevated urine mevalonate levels #Elevated urine mevalonic acid #Mevalonate aciduria\n", + " definition of HP:0032638 (Elevated urine mevalonic acid level)\n", + " \n", + " \n", + " Focal aware non-motor seizure\n", + " definition of HP:0032682 (Focal aware non-motor seizure)\n", + " \n", + " \n", + " A focal non-motor seizure in which awareness is retained throughout the seizure.\n", + " definition of HP:0032682 (Focal aware non-motor seizure)\n", + " \n", + " \n", + " #Focal non-motor aware seizure\n", + " definition of HP:0032682 (Focal aware non-motor seizure)\n", + " \n", + " \n", + " Bowing of limbs due to multiple fractures\n", + " definition of HP:0003023 (Bowing of limbs due to multiple fractures)\n", + " \n", + " \n", + " Curvature of the shafts of the long bones due to multiple fractures.\n", + " definition of HP:0003023 (Bowing of limbs due to multiple fractures)\n", + " \n", + " \n", + " #Bowed limbs due to multiple fractures\n", + " definition of HP:0003023 (Bowing of limbs due to multiple fractures)\n", + " \n", + " \n", + " Whooping cough\n", + " definition of HP:0031247 (Whooping cough)\n", + " \n", + " \n", + " A type of cough characterized by a burst of numerous and rapid coughs followed by a long inhaling effort that is accompanied by a high-pitched whooping sound produced by the inhalation of air.\n", + " definition of HP:0031247 (Whooping cough)\n", + " \n", + " \n", + " Pulmonary artery dilatation\n", + " definition of HP:0004927 (Pulmonary artery dilatation)\n", + " \n", + " \n", + " An abnormal widening of the diameter of the pulmonary artery.\n", + " definition of HP:0004927 (Pulmonary artery dilatation)\n", + " \n", + " \n", + " Absent epiphysis of the middle phalanx of the 2nd toe\n", + " definition of HP:0100111 (Absent epiphysis of the middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Absent end part of the middle bone of the 2nd toe\n", + " definition of HP:0100111 (Absent epiphysis of the middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " Abnormal liver lobulation\n", + " definition of HP:0100752 (Abnormal liver lobulation)\n", + " \n", + " \n", + " Formation of abnormal lobules (small masses of tissue) in the liver.\n", + " definition of HP:0100752 (Abnormal liver lobulation)\n", + " \n", + " \n", + " #Anomalous liver lobulation #Hepatic anomalous lobulation #Liver lobation abnormal\n", + " definition of HP:0100752 (Abnormal liver lobulation)\n", + " \n", + " \n", + " Aortic atherosclerotic lesion\n", + " definition of HP:0012397 (Aortic atherosclerotic lesion)\n", + " \n", + " \n", + " The presence of atheromas or atherosclerotic plaques in the aorta.\n", + " definition of HP:0012397 (Aortic atherosclerotic lesion)\n", + " \n", + " \n", + " #Atherosclerosis of the aorta #Atherosclerotic changes of aorta\n", + " definition of HP:0012397 (Aortic atherosclerotic lesion)\n", + " \n", + " \n", + " Abnormal CSF homocarnosine concentration\n", + " definition of HP:0500241 (Abnormal CSF homocarnosine concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of homocarnosine in the cerebrospinal fluid.\n", + " definition of HP:0500241 (Abnormal CSF homocarnosine concentration)\n", + " \n", + " \n", + " #Abnormal homocarnosine levels in cerebrospinal fluid\n", + " definition of HP:0500241 (Abnormal CSF homocarnosine concentration)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the phalanges of the hallux\n", + " definition of HP:0010058 (Aplasia/Hypoplasia of the phalanges of the hallux)\n", + " \n", + " \n", + " #Absent/small big toe bone #Absent/underdeveloped big toe bone\n", + " definition of HP:0010058 (Aplasia/Hypoplasia of the phalanges of the hallux)\n", + " \n", + " \n", + " Double eyebrow\n", + " definition of HP:0010730 (Double eyebrow)\n", + " \n", + " \n", + " This may present as a partial or complete duplication of the eyebrows.\n", + " definition of HP:0010730 (Double eyebrow)\n", + " \n", + " \n", + " #Double eyebrow #Duplication of eyebrow\n", + " definition of HP:0010730 (Double eyebrow)\n", + " \n", + " \n", + " Impaired continence\n", + " definition of HP:0031064 (Impaired continence)\n", + " \n", + " \n", + " Partial or total incontinence of bowel or bladder.\n", + " definition of HP:0031064 (Impaired continence)\n", + " \n", + " \n", + " Paraspinal hemangioma\n", + " definition of HP:0410274 (Paraspinal hemangioma)\n", + " \n", + " \n", + " A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the paraspinal muscular region, the muscles next to the spine.\n", + " definition of HP:0410274 (Paraspinal hemangioma)\n", + " \n", + " \n", + " Focal non-motor seizure\n", + " definition of HP:0032679 (Focal non-motor seizure)\n", + " \n", + " \n", + " A type of focal-onset seizure characterized by non-motor signs or symptoms (or behavior arrest) as its initial semiological manifestation.\n", + " definition of HP:0032679 (Focal non-motor seizure)\n", + " \n", + " \n", + " #Focal seizure without motor onset #Partial seizure without motor onset\n", + " definition of HP:0032679 (Focal non-motor seizure)\n", + " \n", + " \n", + " Decreased glomerular filtration rate\n", + " definition of HP:0012213 (Decreased glomerular filtration rate)\n", + " \n", + " \n", + " An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.\n", + " definition of HP:0012213 (Decreased glomerular filtration rate)\n", + " \n", + " \n", + " #Decreased GFR #Impaired renal creatinine clearance #Reduced creatinine clearance\n", + " definition of HP:0012213 (Decreased glomerular filtration rate)\n", + " \n", + " \n", + " Lacrimation abnormality\n", + " definition of HP:0000632 (Lacrimation abnormality)\n", + " \n", + " \n", + " Abnormality of tear production.\n", + " definition of HP:0000632 (Lacrimation abnormality)\n", + " \n", + " \n", + " #Abnormality of tear production\n", + " definition of HP:0000632 (Lacrimation abnormality)\n", + " \n", + " \n", + " J-shaped sella turcica\n", + " definition of HP:0002680 (J-shaped sella turcica)\n", + " \n", + " \n", + " A deformity of the sella turcica whereby the sella extends further anterior than normal such that the anterior clinoid process appears to overhang it, giving the appearance of the letter J on imaging of the skull.\n", + " definition of HP:0002680 (J-shaped sella turcica)\n", + " \n", + " \n", + " #Hour glass shaped hypophysial fossa #Hour glass shaped pituitary fossa #Hour glass shaped sella turcica #J-shaped sella #Omega shaped sella turcica\n", + " definition of HP:0002680 (J-shaped sella turcica)\n", + " \n", + " \n", + " Positive mycobacterium CSF culture\n", + " definition of HP:6000543 (Positive mycobacterium CSF culture)\n", + " \n", + " \n", + " Growth of mycobacterium in a culture derived from cerebrospinal fluid (CSF).\n", + " definition of HP:6000543 (Positive mycobacterium CSF culture)\n", + " \n", + " \n", + " Pseudoepiphysis of the proximal phalanx of the 4th toe\n", + " definition of HP:0100198 (Pseudoepiphysis of the proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the fourth toe.\n", + " definition of HP:0100198 (Pseudoepiphysis of the proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " Elevated urinary 5-hydroxyindoleacetic acid level\n", + " definition of HP:6000756 (Elevated urinary 5-hydroxyindoleacetic acid level)\n", + " \n", + " \n", + " The amount of 5-hydroxyindoleacetic acid (5-HIAA) in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000756 (Elevated urinary 5-hydroxyindoleacetic acid level)\n", + " \n", + " \n", + " Disproportionate short-limb short stature\n", + " definition of HP:0008873 (Disproportionate short-limb short stature)\n", + " \n", + " \n", + " A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.\n", + " definition of HP:0008873 (Disproportionate short-limb short stature)\n", + " \n", + " \n", + " #Brachymelic dwarfism #Disproportionate short limb dwarfism #Dwarfism, short-limbed #Micromelic dwarfism #Short limb dwarfism, disproportionate #Short stature, disproportionate short limb #Short stature, disproportionate short-limb #Short-limb dwarfism #Short-limbed dwarfism\n", + " definition of HP:0008873 (Disproportionate short-limb short stature)\n", + " \n", + " \n", + " Portal vein thrombosis\n", + " definition of HP:0030242 (Portal vein thrombosis)\n", + " \n", + " \n", + " Thrombosis of the portal vein and/or its tributaries, which include the splenic vein and the superior and inferior mesenteric veins.\n", + " definition of HP:0030242 (Portal vein thrombosis)\n", + " \n", + " \n", + " #Blood clot in portal vein\n", + " definition of HP:0030242 (Portal vein thrombosis)\n", + " \n", + " \n", + " Intestinal lymphedema\n", + " definition of HP:0004788 (Intestinal lymphedema)\n", + " \n", + " \n", + " Fluid retention and edema in the intestine caused by a compromised lymphatic system.\n", + " definition of HP:0004788 (Intestinal lymphedema)\n", + " \n", + " \n", + " Decreased pancreatic acinar cell density\n", + " definition of HP:6000157 (Decreased pancreatic acinar cell density)\n", + " \n", + " \n", + " Number (count) of pancreatic acinar cells reduced below normal. This feature can be ascertained by pancreas biopsy.\n", + " definition of HP:6000157 (Decreased pancreatic acinar cell density)\n", + " \n", + " \n", + " #Pancreatic biopsy: acinar structures reduced\n", + " definition of HP:6000157 (Decreased pancreatic acinar cell density)\n", + " \n", + " \n", + " Hypophosphatemic rickets\n", + " definition of HP:0004912 (Hypophosphatemic rickets)\n", + " \n", + " \n", + " Synkinesis\n", + " definition of HP:0034980 (Synkinesis)\n", + " \n", + " \n", + " Unintentional movement in one area of the body produced during intentional movement of another area of the body.\n", + " definition of HP:0034980 (Synkinesis)\n", + " \n", + " \n", + " Oroticaciduria\n", + " definition of HP:0003218 (Oroticaciduria)\n", + " \n", + " \n", + " An increased concentration of orotic acid in the urine.\n", + " definition of HP:0003218 (Oroticaciduria)\n", + " \n", + " \n", + " #High urine orotic acid levels #Increased urinary orotic acid concentration\n", + " definition of HP:0003218 (Oroticaciduria)\n", + " \n", + " \n", + " Focal impaired awareness motor seizure\n", + " definition of HP:0032712 (Focal impaired awareness motor seizure)\n", + " \n", + " \n", + " A type of focal motor seizure in which awareness is partially or fully impaired at some point during the seizure.\n", + " definition of HP:0032712 (Focal impaired awareness motor seizure)\n", + " \n", + " \n", + " #Focal motor impaired awareness seizure\n", + " definition of HP:0032712 (Focal impaired awareness motor seizure)\n", + " \n", + " \n", + " Hypoplastic nasal bridge\n", + " definition of HP:0005281 (Hypoplastic nasal bridge)\n", + " \n", + " \n", + " #Decreased size of bridge of nose #Decreased size of nasal bridge #Hypoplastic bridge of nose #Small bridge of nose #Small nasal bridge\n", + " definition of HP:0005281 (Hypoplastic nasal bridge)\n", + " \n", + " \n", + " Transitional cell carcinoma of the bladder\n", + " definition of HP:0006740 (Transitional cell carcinoma of the bladder)\n", + " \n", + " \n", + " The presence of a carcinoma of the urinary bladder with origin in a transitional epithelial cell.\n", + " definition of HP:0006740 (Transitional cell carcinoma of the bladder)\n", + " \n", + " \n", + " #Transitional cell bladder carcinoma\n", + " definition of HP:0006740 (Transitional cell carcinoma of the bladder)\n", + " \n", + " \n", + " Small vessel vasculitis\n", + " definition of HP:0011944 (Small vessel vasculitis)\n", + " \n", + " \n", + " A type of vasculitis (inflammation of blood vessel walls) that affects blood vessels that are smaller than arteries, i.e., arterioles, venules, and capilllaries.\n", + " definition of HP:0011944 (Small vessel vasculitis)\n", + " \n", + " \n", + " Focal impaired awareness emotional seizure\n", + " definition of HP:0032746 (Focal impaired awareness emotional seizure)\n", + " \n", + " \n", + " A focal emotional seizure in which awareness is partially or fully impaired at some point during the seizure.\n", + " definition of HP:0032746 (Focal impaired awareness emotional seizure)\n", + " \n", + " \n", + " Speckled corneal dystrophy\n", + " definition of HP:0007962 (Speckled corneal dystrophy)\n", + " \n", + " \n", + " Myofibrillar myopathy\n", + " definition of HP:0003715 (Myofibrillar myopathy)\n", + " \n", + " \n", + " Myofibrillar structural changes characterized by abnormal intracellular accumulation of the intermediate filament desmin and other proteins.\n", + " definition of HP:0003715 (Myofibrillar myopathy)\n", + " \n", + " \n", + " #Myofibrillar changes\n", + " definition of HP:0003715 (Myofibrillar myopathy)\n", + " \n", + " \n", + " Glossoptosis\n", + " definition of HP:0000162 (Glossoptosis)\n", + " \n", + " \n", + " Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly.\n", + " definition of HP:0000162 (Glossoptosis)\n", + " \n", + " \n", + " #Lingual retraction #Retraction of the tongue\n", + " definition of HP:0000162 (Glossoptosis)\n", + " \n", + " \n", + " Pulverulent cataract\n", + " definition of HP:0010693 (Pulverulent cataract)\n", + " \n", + " \n", + " A kind of congenital cataract that is characterized by a hollow sphere of punctate opacities involving the fetal nucleus and that usually occurs bilaterally.\n", + " definition of HP:0010693 (Pulverulent cataract)\n", + " \n", + " \n", + " #Pulverulent cataract\n", + " definition of HP:0010693 (Pulverulent cataract)\n", + " \n", + " \n", + " Absence of secondary sex characteristics\n", + " definition of HP:0008187 (Absence of secondary sex characteristics)\n", + " \n", + " \n", + " No secondary sexual characteristics are present at puberty.\n", + " definition of HP:0008187 (Absence of secondary sex characteristics)\n", + " \n", + " \n", + " #No secondary sexual characteristics at puberty\n", + " definition of HP:0008187 (Absence of secondary sex characteristics)\n", + " \n", + " \n", + " Anti-Japanese encephalitis virus-specific antibody positivity\n", + " definition of HP:0430062 (Anti-Japanese encephalitis virus-specific antibody positivity)\n", + " \n", + " \n", + " The presence of antibodies in the blood circulation that react against a component of the Japanese encephalitis virus.\n", + " definition of HP:0430062 (Anti-Japanese encephalitis virus-specific antibody positivity)\n", + " \n", + " \n", + " Esophageal squamous papilloma\n", + " definition of HP:0031463 (Esophageal squamous papilloma)\n", + " \n", + " \n", + " A rare benign epithelial tumor that is usually asymptomatic but can present with pyrosis and epigastric discomfort with or without dysphagia. Histopathologically, esophageal squamous papilloma has fingerlike projections lined with acanthotic stratified squamous epithelium with conservation of normal cellular with or without cellular atypia.\n", + " definition of HP:0031463 (Esophageal squamous papilloma)\n", + " \n", + " \n", + " Abnormal lacrimal artery morphology\n", + " definition of HP:3000065 (Abnormal lacrimal artery morphology)\n", + " \n", + " \n", + " An abnormality of a lacrimal artery.\n", + " definition of HP:3000065 (Abnormal lacrimal artery morphology)\n", + " \n", + " \n", + " #Abnormality of lacrimal artery\n", + " definition of HP:3000065 (Abnormal lacrimal artery morphology)\n", + " \n", + " \n", + " Decreased cardiac index\n", + " definition of HP:0033531 (Decreased cardiac index)\n", + " \n", + " \n", + " A reduced cardiac index, defined as cardiac output divided by body surface area.\n", + " definition of HP:0033531 (Decreased cardiac index)\n", + " \n", + " \n", + " Short middle phalanx of toe\n", + " definition of HP:0003795 (Short middle phalanx of toe)\n", + " \n", + " \n", + " Developmental hypoplasia (shortening) of middle phalanx of toe.\n", + " definition of HP:0003795 (Short middle phalanx of toe)\n", + " \n", + " \n", + " #Short middle bones (feet) #Short middle phalanges of toes\n", + " definition of HP:0003795 (Short middle phalanx of toe)\n", + " \n", + " \n", + " Hypercoagulability\n", + " definition of HP:0100724 (Hypercoagulability)\n", + " \n", + " \n", + " An abnormality of coagulation associated with an increased risk of thrombosis.\n", + " definition of HP:0100724 (Hypercoagulability)\n", + " \n", + " \n", + " #Blood hyperviscosity #Thrombophilia\n", + " definition of HP:0100724 (Hypercoagulability)\n", + " \n", + " \n", + " Elevated urinary indican level\n", + " definition of HP:6000130 (Elevated urinary indican level)\n", + " \n", + " \n", + " Detection of indican in the urine. Urinary indican concentration may be elevated in small bowel bacterial overgrowth. Indican is produced by bacterial deconjugation of dietary tryptophan to indole which is absorbed at all levels of the intestine, but principally from the small bowel.\n", + " definition of HP:6000130 (Elevated urinary indican level)\n", + " \n", + " \n", + " Type I atherosclerotic lesion\n", + " definition of HP:0031679 (Type I atherosclerotic lesion)\n", + " \n", + " \n", + " Type I lesions represent the very initial changes and are recognized as an increase in the number of intimal macrophages and the appearance of macrophages filled with lipid droplets (foam cells).\n", + " definition of HP:0031679 (Type I atherosclerotic lesion)\n", + " \n", + " \n", + " Fetal polyuria\n", + " definition of HP:0001563 (Fetal polyuria)\n", + " \n", + " \n", + " Abnormally increased production of urine by the fetus resulting in polyhydramnios.\n", + " definition of HP:0001563 (Fetal polyuria)\n", + " \n", + " \n", + " #Foetal polyuria\n", + " definition of HP:0001563 (Fetal polyuria)\n", + " \n", + " \n", + " History of recent iodated contrast medium administration\n", + " definition of HP:6000293 (History of recent iodated contrast medium administration)\n", + " \n", + " \n", + " Medical history of recent iodinated or radioiodine contrast use.\n", + " definition of HP:6000293 (History of recent iodated contrast medium administration)\n", + " \n", + " \n", + " Decreased blink rate\n", + " definition of HP:0034774 (Decreased blink rate)\n", + " \n", + " \n", + " The frequency with which the eye is blinked is below the lower limit of normal.\n", + " definition of HP:0034774 (Decreased blink rate)\n", + " \n", + " \n", + " #Blinking reduced\n", + " definition of HP:0034774 (Decreased blink rate)\n", + " \n", + " \n", + " Type II pneumocyte hyperplasia\n", + " definition of HP:0033328 (Type II pneumocyte hyperplasia)\n", + " \n", + " \n", + " Increase in the number of type II pneumocytes.\n", + " definition of HP:0033328 (Type II pneumocyte hyperplasia)\n", + " \n", + " \n", + " Anti-perilipin-1 antibody positivity\n", + " definition of HP:6000380 (Anti-perilipin-1 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies in the serum that react against perilipin-1 (PLIN1).\n", + " definition of HP:6000380 (Anti-perilipin-1 antibody positivity)\n", + " \n", + " \n", + " Focal aware cognitive seizure with hallucination\n", + " definition of HP:0032871 (Focal aware cognitive seizure with hallucination)\n", + " \n", + " \n", + " A focal cognitive seizure with hallucination characterized by retained awareness throughout the seizure.\n", + " definition of HP:0032871 (Focal aware cognitive seizure with hallucination)\n", + " \n", + " \n", + " Enlargement of the costochondral junction\n", + " definition of HP:0000920 (Enlargement of the costochondral junction)\n", + " \n", + " \n", + " Abnormally increased size of the costochondral junctions, which are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum.\n", + " definition of HP:0000920 (Enlargement of the costochondral junction)\n", + " \n", + " \n", + " #Costochondral thickening #Enlarged costochondral junctions #Prominent costochondral junction #Wide costochondral junctions #Widened costochondral junction\n", + " definition of HP:0000920 (Enlargement of the costochondral junction)\n", + " \n", + " \n", + " Neoplasm of the oral cavity\n", + " definition of HP:0100649 (Neoplasm of the oral cavity)\n", + " \n", + " \n", + " A tumor (abnormal growth of tissue) of the oral cavity.\n", + " definition of HP:0100649 (Neoplasm of the oral cavity)\n", + " \n", + " \n", + " #Mouth neoplasm #Mouth tumor #Mouth tumour #Neoplasm of the mouth\n", + " definition of HP:0100649 (Neoplasm of the oral cavity)\n", + " \n", + " \n", + " Progressive muscle weakness\n", + " definition of HP:0003323 (Progressive muscle weakness)\n", + " \n", + " \n", + " #Muscle weakness, progressive #Progressive muscular weakness\n", + " definition of HP:0003323 (Progressive muscle weakness)\n", + " \n", + " \n", + " Transient hyperlipidemia\n", + " definition of HP:0008279 (Transient hyperlipidemia)\n", + " \n", + " \n", + " Abnormal circulating interleukin 23 concentration\n", + " definition of HP:0034170 (Abnormal circulating interleukin 23 concentration)\n", + " \n", + " \n", + " Any deviation from the normal range of the concentration of interleukin 23 in the blood circulation.\n", + " definition of HP:0034170 (Abnormal circulating interleukin 23 concentration)\n", + " \n", + " \n", + " Unaided visual acuity 0.7 LogMAR\n", + " definition of HP:0030542 (Unaided visual acuity 0.7 LogMAR)\n", + " \n", + " \n", + " Stenosis of the Eustachian tube\n", + " definition of HP:0040118 (Stenosis of the Eustachian tube)\n", + " \n", + " \n", + " Antilactoferrin antibody positivity\n", + " definition of HP:0033395 (Antilactoferrin antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against lactoferrin.\n", + " definition of HP:0033395 (Antilactoferrin antibody positivity)\n", + " \n", + " \n", + " Elevated bone marrow ring sideroblast count\n", + " definition of HP:0004864 (Elevated bone marrow ring sideroblast count)\n", + " \n", + " \n", + " Count of ring sideroblasts in the bone marrow above the upper limit of normal. Ring sideroblasts are nucleated erythroblasts with a pathologic accumulation of iron granules in the mitochondrial matrix. They can be detected by Prussian blue staining as blue perinuclear aggregates in bone marrow aspirate erythroblasts.\n", + " definition of HP:0004864 (Elevated bone marrow ring sideroblast count)\n", + " \n", + " \n", + " #Refractory sideroblastic anaemia\n", + " definition of HP:0004864 (Elevated bone marrow ring sideroblast count)\n", + " \n", + " \n", + " Word salad\n", + " definition of HP:0025784 (Word salad)\n", + " \n", + " \n", + " Speech that consists of a series of recognizable words that are randomly strung together with no meaningful connection.\n", + " definition of HP:0025784 (Word salad)\n", + " \n", + " \n", + " #Random stream of words with no logic\n", + " definition of HP:0025784 (Word salad)\n", + " \n", + " \n", + " Lacrimal gland aplasia\n", + " definition of HP:0007656 (Lacrimal gland aplasia)\n", + " \n", + " \n", + " A congenital defect of development characterized by absence of the lacrimal gland.\n", + " definition of HP:0007656 (Lacrimal gland aplasia)\n", + " \n", + " \n", + " #Absent tear gland\n", + " definition of HP:0007656 (Lacrimal gland aplasia)\n", + " \n", + " \n", + " Posterior predominant subcortical band heterotopia\n", + " definition of HP:0032411 (Posterior predominant subcortical band heterotopia)\n", + " \n", + " \n", + " Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the occipital cortex.\n", + " definition of HP:0032411 (Posterior predominant subcortical band heterotopia)\n", + " \n", + " \n", + " #Occipital subcortical band heterotopia #Subcortical band heterotopia posterior predominant\n", + " definition of HP:0032411 (Posterior predominant subcortical band heterotopia)\n", + " \n", + " \n", + " Metacarpal periosteal thickening\n", + " definition of HP:0006051 (Metacarpal periosteal thickening)\n", + " \n", + " \n", + " Absent epiphyses of the 2nd toe\n", + " definition of HP:0100044 (Absent epiphyses of the 2nd toe)\n", + " \n", + " \n", + " #Absent end part of the 2nd toe bone\n", + " definition of HP:0100044 (Absent epiphyses of the 2nd toe)\n", + " \n", + " \n", + " Laryngeal stenosis\n", + " definition of HP:0001602 (Laryngeal stenosis)\n", + " \n", + " \n", + " Stricture or narrowing of the larynx that may be associated with symptoms of respiratory difficulty depending on the degree of laryngeal narrowing.\n", + " definition of HP:0001602 (Laryngeal stenosis)\n", + " \n", + " \n", + " Reduced hepatic glycogen phosphorylase activity\n", + " definition of HP:6000979 (Reduced hepatic glycogen phosphorylase activity)\n", + " \n", + " \n", + " Activity or concentration of glycogen phosphorylase L in the liver below the lower limit of normal.\n", + " definition of HP:6000979 (Reduced hepatic glycogen phosphorylase activity)\n", + " \n", + " \n", + " Abnormal deltoid tuberosity morphology\n", + " definition of HP:0003889 (Abnormal deltoid tuberosity morphology)\n", + " \n", + " \n", + " #Abnormality of the deltoid tuberosities\n", + " definition of HP:0003889 (Abnormal deltoid tuberosity morphology)\n", + " \n", + " \n", + " Periosteal thickening of long tubular bones\n", + " definition of HP:0006465 (Periosteal thickening of long tubular bones)\n", + " \n", + " \n", + " Thickening of the periosteum of long bone.\n", + " definition of HP:0006465 (Periosteal thickening of long tubular bones)\n", + " \n", + " \n", + " Chronic sinusitis\n", + " definition of HP:0011109 (Chronic sinusitis)\n", + " \n", + " \n", + " A chronic form of sinusitis.\n", + " definition of HP:0011109 (Chronic sinusitis)\n", + " \n", + " \n", + " Bloodstream infectious agent\n", + " definition of HP:0031863 (Bloodstream infectious agent)\n", + " \n", + " \n", + " The presence of an infectious agent in the blood circulation.\n", + " definition of HP:0031863 (Bloodstream infectious agent)\n", + " \n", + " \n", + " Hemorrhagic ovarian cyst\n", + " definition of HP:0012886 (Hemorrhagic ovarian cyst)\n", + " \n", + " \n", + " An abdominal mass formed by bleeding into a follicular ovarian cyst or corpus luteum cyst.\n", + " definition of HP:0012886 (Hemorrhagic ovarian cyst)\n", + " \n", + " \n", + " Facial hyperostosis\n", + " definition of HP:0005465 (Facial hyperostosis)\n", + " \n", + " \n", + " Excessive growth (overgrowth) of the facial bones, that is of the facial skeleton.\n", + " definition of HP:0005465 (Facial hyperostosis)\n", + " \n", + " \n", + " #Enlargement of the facial bones #Excessive growth of facial bones #Excessive growth of facial skeleton #Hyperostosis of facial bones #Hyperostosis of facial skeleton #Hypertrophy of the facial bones #Increase in size of the facial bones #Overgrowth of facial bones #Overgrowth of facial skeleton #Overgrowth of the facial bones\n", + " definition of HP:0005465 (Facial hyperostosis)\n", + " \n", + " \n", + " Aldehyde oxidase deficiency\n", + " definition of HP:0002932 (Aldehyde oxidase deficiency)\n", + " \n", + " \n", + " A reduction in aldehyde oxidase level.\n", + " definition of HP:0002932 (Aldehyde oxidase deficiency)\n", + " \n", + " \n", + " Anti-21-hydroxylase antibody positivity\n", + " definition of HP:0034071 (Anti-21-hydroxylase antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against 21-hydroxylase.\n", + " definition of HP:0034071 (Anti-21-hydroxylase antibody positivity)\n", + " \n", + " \n", + " #Anti-P450c21\n", + " definition of HP:0034071 (Anti-21-hydroxylase antibody positivity)\n", + " \n", + " \n", + " Focal white matter lesions\n", + " definition of HP:0007042 (Focal white matter lesions)\n", + " \n", + " \n", + " Two carpal ossification centers present at birth\n", + " definition of HP:0006176 (Two carpal ossification centers present at birth)\n", + " \n", + " \n", + " #Two carpal ossification centres present at birth\n", + " definition of HP:0006176 (Two carpal ossification centers present at birth)\n", + " \n", + " \n", + " Frontal balding\n", + " definition of HP:0002292 (Frontal balding)\n", + " \n", + " \n", + " Absence of hair in the anterior midline and/or parietal areas.\n", + " definition of HP:0002292 (Frontal balding)\n", + " \n", + " \n", + " #Frontal balding\n", + " definition of HP:0002292 (Frontal balding)\n", + " \n", + " \n", + " Fibrofatty replacement of right ventricular myocardium\n", + " definition of HP:0034364 (Fibrofatty replacement of right ventricular myocardium)\n", + " \n", + " \n", + " Replacement of the myocardium of the right ventricular free wall by fat and fibrous tissue.\n", + " definition of HP:0034364 (Fibrofatty replacement of right ventricular myocardium)\n", + " \n", + " \n", + " Persistent preoccupation with parts of objects\n", + " definition of HP:4000069 (Persistent preoccupation with parts of objects)\n", + " \n", + " \n", + " A type of abnormal interest characterized by a persistent and intense focus on parts of a toy/object. For example, affected individuals may spin the wheels on a toy car rather than drive the toy car.\n", + " definition of HP:4000069 (Persistent preoccupation with parts of objects)\n", + " \n", + " \n", + " #Fixated interest in unusual objects #Fixated interest with parts of objects #Fixation with parts of objects\n", + " definition of HP:4000069 (Persistent preoccupation with parts of objects)\n", + " \n", + " \n", + " Abnormality of visual evoked potentials\n", + " definition of HP:0000649 (Abnormality of visual evoked potentials)\n", + " \n", + " \n", + " An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex.\n", + " definition of HP:0000649 (Abnormality of visual evoked potentials)\n", + " \n", + " \n", + " #Abnormal vision evoked potentials #Abnormal visual evoked potential #Abnormal visual evoked responses #Abnormal visual-evoked potentials #VEP abnormalities\n", + " definition of HP:0000649 (Abnormality of visual evoked potentials)\n", + " \n", + " \n", + " Multinodular goiter\n", + " definition of HP:0005987 (Multinodular goiter)\n", + " \n", + " \n", + " Enlargement of the thyroid gland related to multiple nodules in the thyroid gland.\n", + " definition of HP:0005987 (Multinodular goiter)\n", + " \n", + " \n", + " #Multinodular goitre\n", + " definition of HP:0005987 (Multinodular goiter)\n", + " \n", + " \n", + " Intratubular hemoglobin casts\n", + " definition of HP:0032631 (Intratubular hemoglobin casts)\n", + " \n", + " \n", + " A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented. On H&E (red granular), PAS (purple), trichrome (red granular), Hall (yellow brown). Stain positively for Hemoglobin A.\n", + " definition of HP:0032631 (Intratubular hemoglobin casts)\n", + " \n", + " \n", + " #Intratubular haemoglobin casts\n", + " definition of HP:0032631 (Intratubular hemoglobin casts)\n", + " \n", + " \n", + " Reduced tissue tripeptidyl peptidase 1 activity\n", + " definition of HP:6000571 (Reduced tissue tripeptidyl peptidase 1 activity)\n", + " \n", + " \n", + " Activity of tripeptidyl peptidase 1 (TPP1;EC 3.4.14.9) in the tissues below the lower limit of normal. TTP1 activity can be measured in tissues including fibroblasts and leukocytes muscle.\n", + " definition of HP:6000571 (Reduced tissue tripeptidyl peptidase 1 activity)\n", + " \n", + " \n", + " #Reduced leukocyte tripeptidyl peptidase 1 activity #Reduced tripeptidyl peptidase 1 activity in cultured fibroblasts\n", + " definition of HP:6000571 (Reduced tissue tripeptidyl peptidase 1 activity)\n", + " \n", + " \n", + " Decreased circulating gonadotropin concentration\n", + " definition of HP:0030339 (Decreased circulating gonadotropin concentration)\n", + " \n", + " \n", + " A reduction of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH).\n", + " definition of HP:0030339 (Decreased circulating gonadotropin concentration)\n", + " \n", + " \n", + " #Decreased circulating gonadotropin level\n", + " definition of HP:0030339 (Decreased circulating gonadotropin concentration)\n", + " \n", + " \n", + " Mucosal telangiectasiae\n", + " definition of HP:0100579 (Mucosal telangiectasiae)\n", + " \n", + " \n", + " Telangiectasia of the mucosa, the mucous membranes which are involved in absorption and secretion that line cavities that are exposed to the external environment and internal organs.\n", + " definition of HP:0100579 (Mucosal telangiectasiae)\n", + " \n", + " \n", + " Partial-complete absence of 5th phalanges\n", + " definition of HP:0006209 (Partial-complete absence of 5th phalanges)\n", + " \n", + " \n", + " #Partial-complete absence of 5th digital bone\n", + " definition of HP:0006209 (Partial-complete absence of 5th phalanges)\n", + " \n", + " \n", + " Best corrected visual acuity 0.4 LogMAR\n", + " definition of HP:0030557 (Best corrected visual acuity 0.4 LogMAR)\n", + " \n", + " \n", + " Tendonitis\n", + " definition of HP:0025230 (Tendonitis)\n", + " \n", + " \n", + " Inflammation of a tendon.\n", + " definition of HP:0025230 (Tendonitis)\n", + " \n", + " \n", + " #Teninitis\n", + " definition of HP:0025230 (Tendonitis)\n", + " \n", + " \n", + " Aggression towards others\n", + " definition of HP:5200125 (Aggression towards others)\n", + " \n", + " \n", + " Aggression that is directed towards other individuals, as opposed to oneself.\n", + " definition of HP:5200125 (Aggression towards others)\n", + " \n", + " \n", + " Anti-signal recognition particle antibody positivity\n", + " definition of HP:0033713 (Anti-signal recognition particle antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against anti-signal recognition particle.\n", + " definition of HP:0033713 (Anti-signal recognition particle antibody positivity)\n", + " \n", + " \n", + " #Anti-SRP antibody positivity\n", + " definition of HP:0033713 (Anti-signal recognition particle antibody positivity)\n", + " \n", + " \n", + " Profound hearing impairment\n", + " definition of HP:0012715 (Profound hearing impairment)\n", + " \n", + " \n", + " A profound (essentially complete) form of hearing impairment.\n", + " definition of HP:0012715 (Profound hearing impairment)\n", + " \n", + " \n", + " #Profound hearing impairment\n", + " definition of HP:0012715 (Profound hearing impairment)\n", + " \n", + " \n", + " Increased glutamine family amino acid level in urine\n", + " definition of HP:0033093 (Increased glutamine family amino acid level in urine)\n", + " \n", + " \n", + " An elevated level of an glutamine family amino acid in the urine.\n", + " definition of HP:0033093 (Increased glutamine family amino acid level in urine)\n", + " \n", + " \n", + " Duplication of the middle phalanx of the 4th finger\n", + " definition of HP:0009976 (Duplication of the middle phalanx of the 4th finger)\n", + " \n", + " \n", + " Partial or complete duplication of the middle phalanx of ring finger.\n", + " definition of HP:0009976 (Duplication of the middle phalanx of the 4th finger)\n", + " \n", + " \n", + " #Partial/complete duplication of the middle bone of the ring finger #Partial/complete duplication of the middle phalanx of the 4th finger\n", + " definition of HP:0009976 (Duplication of the middle phalanx of the 4th finger)\n", + " \n", + " \n", + " Anemic pallor\n", + " definition of HP:0001017 (Anemic pallor)\n", + " \n", + " \n", + " A type of pallor that is secondary to the presence of anemia.\n", + " definition of HP:0001017 (Anemic pallor)\n", + " \n", + " \n", + " #Anaemic pallor\n", + " definition of HP:0001017 (Anemic pallor)\n", + " \n", + " \n", + " Weakness of facial musculature\n", + " definition of HP:0030319 (Weakness of facial musculature)\n", + " \n", + " \n", + " Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve).\n", + " definition of HP:0030319 (Weakness of facial musculature)\n", + " \n", + " \n", + " #Decreased facial muscle strength #Decreased strength of facial muscles #Face weakness #Facial muscle weakness #Facial weakness #Myasthenia of facial muscles #Reduced facial muscle strength #Weakness of face #Weakness of facial musculature\n", + " definition of HP:0030319 (Weakness of facial musculature)\n", + " \n", + " \n", + " Abnormal forearm morphology\n", + " definition of HP:0002973 (Abnormal forearm morphology)\n", + " \n", + " \n", + " An abnormality of the lower arm.\n", + " definition of HP:0002973 (Abnormal forearm morphology)\n", + " \n", + " \n", + " #Abnormality of the forearm\n", + " definition of HP:0002973 (Abnormal forearm morphology)\n", + " \n", + " \n", + " Abnormal anatomic location of the heart\n", + " definition of HP:0004307 (Abnormal anatomic location of the heart)\n", + " \n", + " \n", + " Developmental defect characterized by an anomalous anatomic location of the heart.\n", + " definition of HP:0004307 (Abnormal anatomic location of the heart)\n", + " \n", + " \n", + " Small epiphysis of the middle phalanx of the 5th toe\n", + " definition of HP:0100221 (Small epiphysis of the middle phalanx of the 5th toe)\n", + " \n", + " \n", + " #Small end part of the middle bone of the little toe #Small end part of the middle bone of the pinkie toe #Small end part of the middle bone of the pinky toe\n", + " definition of HP:0100221 (Small epiphysis of the middle phalanx of the 5th toe)\n", + " \n", + " \n", + " Past obstetric history\n", + " definition of HP:0032467 (Past obstetric history)\n", + " \n", + " \n", + " Information about past pregnancies including gravidity (number of times a woman has been pregnant, regardless of the outcome), parity (total number of births), gestational age of births, and medical conditions related to past pregnancies.\n", + " definition of HP:0032467 (Past obstetric history)\n", + " \n", + " \n", + " #Maternal medical history\n", + " definition of HP:0032467 (Past obstetric history)\n", + " \n", + " \n", + " Impaired cortisol response to corticotropin releasing hormone stimulation test\n", + " definition of HP:0031078 (Impaired cortisol response to corticotropin releasing hormone stimulation test)\n", + " \n", + " \n", + " Failure of cortisol levels to respond adequately (by increasing) to the corticotropin releasing hormone stimulation test.\n", + " definition of HP:0031078 (Impaired cortisol response to corticotropin releasing hormone stimulation test)\n", + " \n", + " \n", + " Curved proximal phalanx of the 2nd finger\n", + " definition of HP:0009583 (Curved proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Curved appearance of the proximal phalanx of the 2nd finger.\n", + " definition of HP:0009583 (Curved proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Curved innermost bone of index finger\n", + " definition of HP:0009583 (Curved proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Protruding ear\n", + " definition of HP:0000411 (Protruding ear)\n", + " \n", + " \n", + " Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).\n", + " definition of HP:0000411 (Protruding ear)\n", + " \n", + " \n", + " #Prominent ear #Prominent ears\n", + " definition of HP:0000411 (Protruding ear)\n", + " \n", + " \n", + " Anti-folate receptor antibody positivity\n", + " definition of HP:6000795 (Anti-folate receptor antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against the folate receptor in the blood circulation.\n", + " definition of HP:6000795 (Anti-folate receptor antibody positivity)\n", + " \n", + " \n", + " Hypoproteinemic edema\n", + " definition of HP:0007609 (Hypoproteinemic edema)\n", + " \n", + " \n", + " An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body because of decreased osmotic pressure of plasma (hypoproteinemia).\n", + " definition of HP:0007609 (Hypoproteinemic edema)\n", + " \n", + " \n", + " #Hypoproteinemic oedema\n", + " definition of HP:0007609 (Hypoproteinemic edema)\n", + " \n", + " \n", + " Hypoplastic anterior commissure\n", + " definition of HP:0030303 (Hypoplastic anterior commissure)\n", + " \n", + " \n", + " Underdevelopment of the anterior commissure.\n", + " definition of HP:0030303 (Hypoplastic anterior commissure)\n", + " \n", + " \n", + " Weakness of muscles of respiration\n", + " definition of HP:0004347 (Weakness of muscles of respiration)\n", + " \n", + " \n", + " Reduced function of the muscles required to generate subatmospheric pressure in the thoracic cavity during breathing: the diaphragm, the external intercostal and the interchondral part of the internal intercostal muscles.\n", + " definition of HP:0004347 (Weakness of muscles of respiration)\n", + " \n", + " \n", + " Fetal intraventricular hemorrhage with ventriculomegaly\n", + " definition of HP:0034218 (Fetal intraventricular hemorrhage with ventriculomegaly)\n", + " \n", + " \n", + " A type of fetal intraventricular hemorrhage (IVH) characterized by spillover to ventricles with flooding of 50% or more of one or both lateral ventricles accrued accompanying ventriculomegaly, but with no apparent brain parenchymal injury. This type of IVH may be defined as a diameter exceeding 15 mm in the transverse diameter of the lateral ventricular atrium as visualiuzed by prenatal sonography.\n", + " definition of HP:0034218 (Fetal intraventricular hemorrhage with ventriculomegaly)\n", + " \n", + " \n", + " #Grade III fetal intracranial hemorrhage #Grade III foetal intracranial haemorrhage\n", + " definition of HP:0034218 (Fetal intraventricular hemorrhage with ventriculomegaly)\n", + " \n", + " \n", + " Abnormal chylomicron concentration\n", + " definition of HP:0031887 (Abnormal chylomicron concentration)\n", + " \n", + " \n", + " Any deviation from the normal circulating concentration of chylomicrons.\n", + " definition of HP:0031887 (Abnormal chylomicron concentration)\n", + " \n", + " \n", + " Progressive pulmonary function impairment\n", + " definition of HP:0006520 (Progressive pulmonary function impairment)\n", + " \n", + " \n", + " Intestinal malrotation\n", + " definition of HP:0002566 (Intestinal malrotation)\n", + " \n", + " \n", + " An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.\n", + " definition of HP:0002566 (Intestinal malrotation)\n", + " \n", + " \n", + " #Malrotation\n", + " definition of HP:0002566 (Intestinal malrotation)\n", + " \n", + " \n", + " Increased Tn-antigen level\n", + " definition of HP:0410372 (Increased Tn-antigen level)\n", + " \n", + " \n", + " An abnormal increase in the concentration of Tn antigen on glycoproteins.\n", + " definition of HP:0410372 (Increased Tn-antigen level)\n", + " \n", + " \n", + " #Increased O-GalNac on glycoprotein concentration\n", + " definition of HP:0410372 (Increased Tn-antigen level)\n", + " \n", + " \n", + " Basilar impression\n", + " definition of HP:0005758 (Basilar impression)\n", + " \n", + " \n", + " Abnormal elevation of the floor of the posterior fossa including occipital condyles and foramen magnum.\n", + " definition of HP:0005758 (Basilar impression)\n", + " \n", + " \n", + " Increased hepatocellular lipid droplets\n", + " definition of HP:0006565 (Increased hepatocellular lipid droplets)\n", + " \n", + " \n", + " An abnormal increase in the amount of intracellular lipid droplets in hepatocytes.\n", + " definition of HP:0006565 (Increased hepatocellular lipid droplets)\n", + " \n", + " \n", + " Lumbar interpedicular narrowing\n", + " definition of HP:0008486 (Lumbar interpedicular narrowing)\n", + " \n", + " \n", + " Narrowing (becoming gradually narrower) of the distance between lumbar vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column.\n", + " definition of HP:0008486 (Lumbar interpedicular narrowing)\n", + " \n", + " \n", + " #Decreasing lumbar vertebrae interpediculate distance\n", + " definition of HP:0008486 (Lumbar interpedicular narrowing)\n", + " \n", + " \n", + " Vaginal fish odor\n", + " definition of HP:0410022 (Vaginal fish odor)\n", + " \n", + " \n", + " A fish odor in the vaginal area, that is characteristic of bacterial vaginosis (BV), and is due to trimethylamine (TMA).\n", + " definition of HP:0410022 (Vaginal fish odor)\n", + " \n", + " \n", + " #Vaginal fish odor\n", + " definition of HP:0410022 (Vaginal fish odor)\n", + " \n", + " \n", + " Duplication of phalanx of 5th finger\n", + " definition of HP:0009985 (Duplication of phalanx of 5th finger)\n", + " \n", + " \n", + " This term applies if one or more of the phalanges of the 5th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.\n", + " definition of HP:0009985 (Duplication of phalanx of 5th finger)\n", + " \n", + " \n", + " #Partial/complete duplication of little finger bone #Partial/complete duplication of phalanges of the 5th finger #Partial/complete duplication of pinkie finger bone #Partial/complete duplication of pinky finger bone\n", + " definition of HP:0009985 (Duplication of phalanx of 5th finger)\n", + " \n", + " \n", + " Abnormal light-adapted electroretinogram\n", + " definition of HP:0008275 (Abnormal light-adapted electroretinogram)\n", + " \n", + " \n", + " #Abnormal cone-mediated electroretinogram\n", + " definition of HP:0008275 (Abnormal light-adapted electroretinogram)\n", + " \n", + " \n", + " Abnormality of lens shape\n", + " definition of HP:0011526 (Abnormality of lens shape)\n", + " \n", + " \n", + " An abnormal shape of the lens.\n", + " definition of HP:0011526 (Abnormality of lens shape)\n", + " \n", + " \n", + " #Abnormality of lens shape\n", + " definition of HP:0011526 (Abnormality of lens shape)\n", + " \n", + " \n", + " Contracture of the proximal interphalangeal joint of the 2nd toe\n", + " definition of HP:0100348 (Contracture of the proximal interphalangeal joint of the 2nd toe)\n", + " \n", + " \n", + " The proximal interphalangeal joint of the 2nd toe cannot be straightened actively or passively.\n", + " definition of HP:0100348 (Contracture of the proximal interphalangeal joint of the 2nd toe)\n", + " \n", + " \n", + " #Camptodactyly of the 2nd toe #Camptodactyly of the second toe\n", + " definition of HP:0100348 (Contracture of the proximal interphalangeal joint of the 2nd toe)\n", + " \n", + " \n", + " Proximal upper limb amyotrophy\n", + " definition of HP:0008948 (Proximal upper limb amyotrophy)\n", + " \n", + " \n", + " Muscular atrophy affecting proximally located muscles of the arms.\n", + " definition of HP:0008948 (Proximal upper limb amyotrophy)\n", + " \n", + " \n", + " #Proximal muscle atrophy in upper limbs #Proximal upper limb muscle atrophy\n", + " definition of HP:0008948 (Proximal upper limb amyotrophy)\n", + " \n", + " \n", + " Abdominal mass\n", + " definition of HP:0031500 (Abdominal mass)\n", + " \n", + " \n", + " An abnormal enlargement or swelling in the abdomen.\n", + " definition of HP:0031500 (Abdominal mass)\n", + " \n", + " \n", + " Antenatal intracerebral hemorrhage\n", + " definition of HP:0007023 (Antenatal intracerebral hemorrhage)\n", + " \n", + " \n", + " Cerebral hemorrhage that occurs before birth.\n", + " definition of HP:0007023 (Antenatal intracerebral hemorrhage)\n", + " \n", + " \n", + " #Antenatal intracerebral haemorrhage\n", + " definition of HP:0007023 (Antenatal intracerebral hemorrhage)\n", + " \n", + " \n", + " Costovertebral angle tenderness\n", + " definition of HP:6000106 (Costovertebral angle tenderness)\n", + " \n", + " \n", + " Pain that is elicited by palpation of the region inside of the costovertebral angle, which is formed by the 12th rib and the spine.\n", + " definition of HP:6000106 (Costovertebral angle tenderness)\n", + " \n", + " \n", + " #Costovertebral angle pain\n", + " definition of HP:6000106 (Costovertebral angle tenderness)\n", + " \n", + " \n", + " Cone-shaped epiphysis of the middle phalanx of the 4th toe\n", + " definition of HP:0100182 (Cone-shaped epiphysis of the middle phalanx of the 4th toe)\n", + " \n", + " \n", + " #Cone-shaped end part of the middle bone of the 4th toe\n", + " definition of HP:0100182 (Cone-shaped epiphysis of the middle phalanx of the 4th toe)\n", + " \n", + " \n", + " Renal arteriole intima/media storage material accumulation\n", + " definition of HP:0033920 (Renal arteriole intima/media storage material accumulation)\n", + " \n", + " \n", + " Deposition of storage material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arterioles of the kidney.\n", + " definition of HP:0033920 (Renal arteriole intima/media storage material accumulation)\n", + " \n", + " \n", + " #Accumulated storage material within arteriolar intima/media\n", + " definition of HP:0033920 (Renal arteriole intima/media storage material accumulation)\n", + " \n", + " \n", + " Increased urinary squamous epithelial cell count\n", + " definition of HP:0032212 (Increased urinary squamous epithelial cell count)\n", + " \n", + " \n", + " An increased number of squamous epithelial cells per high-power field in urinanalysis.\n", + " definition of HP:0032212 (Increased urinary squamous epithelial cell count)\n", + " \n", + " \n", + " Congenital talipes calcaneovalgus\n", + " definition of HP:0005850 (Congenital talipes calcaneovalgus)\n", + " \n", + " \n", + " Noctural pain\n", + " definition of HP:6000707 (Noctural pain)\n", + " \n", + " \n", + " Pain at night.\n", + " definition of HP:6000707 (Noctural pain)\n", + " \n", + " \n", + " Age-related cataract\n", + " definition of HP:0011141 (Age-related cataract)\n", + " \n", + " \n", + " A type of cataract (opacification of the lens) that forms during the course of aging.\n", + " definition of HP:0011141 (Age-related cataract)\n", + " \n", + " \n", + " #Clouding of the lens of the eye with age\n", + " definition of HP:0011141 (Age-related cataract)\n", + " \n", + " \n", + " Abnormal CSF ornithine concentration\n", + " definition of HP:0500243 (Abnormal CSF ornithine concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of ornithine in the cerebrospinal fluid.\n", + " definition of HP:0500243 (Abnormal CSF ornithine concentration)\n", + " \n", + " \n", + " #Abnormal ornithine levels in cerebrospinal fluid\n", + " definition of HP:0500243 (Abnormal CSF ornithine concentration)\n", + " \n", + " \n", + " Abnormal aortic morphology\n", + " definition of HP:0001679 (Abnormal aortic morphology)\n", + " \n", + " \n", + " An abnormality of the aorta.\n", + " definition of HP:0001679 (Abnormal aortic morphology)\n", + " \n", + " \n", + " #Abnormal aorta morphology #Abnormality of the aorta\n", + " definition of HP:0001679 (Abnormal aortic morphology)\n", + " \n", + " \n", + " Subglottic laryngitis\n", + " definition of HP:0033000 (Subglottic laryngitis)\n", + " \n", + " \n", + " Narrowing of the larynx, commonly occurring during viral respiratory tract infections, in particular in children, leads to symptoms such as hoarseness, a barking cough, stridor, and sometimes dyspnea and respiratory failure.\n", + " definition of HP:0033000 (Subglottic laryngitis)\n", + " \n", + " \n", + " #Croup #Laryngitis #Pseudocroup #Spasmodic croup #Viral croup\n", + " definition of HP:0033000 (Subglottic laryngitis)\n", + " \n", + " \n", + " Conspicuously happy disposition\n", + " definition of HP:0100024 (Conspicuously happy disposition)\n", + " \n", + " \n", + " An unusually happy demeanor over time, which can also be observed during inappropriate situations that should, for example, cause distress, fear, or anger.\n", + " definition of HP:0100024 (Conspicuously happy disposition)\n", + " \n", + " \n", + " #Conspicious happy aspect #Happy aspect\n", + " definition of HP:0100024 (Conspicuously happy disposition)\n", + " \n", + " \n", + " Osteoporosis\n", + " definition of HP:0000939 (Osteoporosis)\n", + " \n", + " \n", + " Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).\n", + " definition of HP:0000939 (Osteoporosis)\n", + " \n", + " \n", + " Colon perforation\n", + " definition of HP:0031369 (Colon perforation)\n", + " \n", + " \n", + " A hole (perforation) in the wall of the colon.\n", + " definition of HP:0031369 (Colon perforation)\n", + " \n", + " \n", + " #Perforation of the colon\n", + " definition of HP:0031369 (Colon perforation)\n", + " \n", + " \n", + " Abnormal blood gas level\n", + " definition of HP:0012415 (Abnormal blood gas level)\n", + " \n", + " \n", + " An abnormality of the partial pressure of oxygen or carbon dioxide in the arterial blood.\n", + " definition of HP:0012415 (Abnormal blood gas level)\n", + " \n", + " \n", + " #Abnormal blood gas level\n", + " definition of HP:0012415 (Abnormal blood gas level)\n", + " \n", + " \n", + " Esophageal duplication\n", + " definition of HP:0100681 (Esophageal duplication)\n", + " \n", + " \n", + " A developmental disorder in which there is a duplication of a portion of the muscle and submucosa of the esophagus without epithelial duplication.\n", + " definition of HP:0100681 (Esophageal duplication)\n", + " \n", + " \n", + " Recurrent bacterial meningitis\n", + " definition of HP:0007274 (Recurrent bacterial meningitis)\n", + " \n", + " \n", + " An increased susceptibility to bacterial meningitis as manifested by a medical history of recurrent episodes of bacterial meningitis.\n", + " definition of HP:0007274 (Recurrent bacterial meningitis)\n", + " \n", + " \n", + " Mitten deformity\n", + " definition of HP:0004057 (Mitten deformity)\n", + " \n", + " \n", + " Fusion of the hands and feet by a thin membrane of skin (scarring) seen in forms of dystrophic epidermolysis bullosa and leading to a \\"mitten\\" hand deformity.\n", + " definition of HP:0004057 (Mitten deformity)\n", + " \n", + " \n", + " #Pseudosyndactyly\n", + " definition of HP:0004057 (Mitten deformity)\n", + " \n", + " \n", + " Abnormality of the musculature of the lower limbs\n", + " definition of HP:0001437 (Abnormality of the musculature of the lower limbs)\n", + " \n", + " \n", + " Abnormal medullary peritubular capillary morphology\n", + " definition of HP:0033864 (Abnormal medullary peritubular capillary morphology)\n", + " \n", + " \n", + " Anomalous structure of the peritubular capillaries located in the medulla of the kidney.\n", + " definition of HP:0033864 (Abnormal medullary peritubular capillary morphology)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the cerebrum\n", + " definition of HP:0007364 (Aplasia/Hypoplasia of the cerebrum)\n", + " \n", + " \n", + " #Absent/small cerebrum #Absent/underdeveloped cerebrum\n", + " definition of HP:0007364 (Aplasia/Hypoplasia of the cerebrum)\n", + " \n", + " \n", + " Bicuspid aortic valve with right-left cusp fusion\n", + " definition of HP:0031119 (Bicuspid aortic valve with right-left cusp fusion)\n", + " \n", + " \n", + " A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and left cusps (RL fusion pattern). This results in two leaflefts with an anterior-posterior leaflet orientation (also called the typical pattern). There is thus one completely developed noncoronary cusp, two completely developed commissures, and one raphe between the underdeveloped left and right coronary cusps extending to the corresponding malformed commissure.\n", + " definition of HP:0031119 (Bicuspid aortic valve with right-left cusp fusion)\n", + " \n", + " \n", + " Compensatory scoliosis\n", + " definition of HP:0100884 (Compensatory scoliosis)\n", + " \n", + " \n", + " A scoliosis which is the results of a difference in leg length (which might be due to hemihypertrophy or hemihypotrophy of a leg) and the resulting tilting of the pelvis. If untreated this will lead to the development of scoliosis over time.\n", + " definition of HP:0100884 (Compensatory scoliosis)\n", + " \n", + " \n", + " Sclerotic foci of metaphyses of the elbow\n", + " definition of HP:0003952 (Sclerotic foci of metaphyses of the elbow)\n", + " \n", + " \n", + " #Vertical linear mixed lucent and sclerotic pattern of metaphyses\n", + " definition of HP:0003952 (Sclerotic foci of metaphyses of the elbow)\n", + " \n", + " \n", + " Focal impaired awareness emotional seizure with paranoia\n", + " definition of HP:0032749 (Focal impaired awareness emotional seizure with paranoia)\n", + " \n", + " \n", + " Focal emotional seizure with paranoia in which awareness is partially or fully impaired at some point during the seizure.\n", + " definition of HP:0032749 (Focal impaired awareness emotional seizure with paranoia)\n", + " \n", + " \n", + " Elevated circulating uracil concentration\n", + " definition of HP:0033139 (Elevated circulating uracil concentration)\n", + " \n", + " \n", + " Concentration of uracil in the blood circulation is above the normal range.\n", + " definition of HP:0033139 (Elevated circulating uracil concentration)\n", + " \n", + " \n", + " Exposure history\n", + " definition of HP:4000110 (Exposure history)\n", + " \n", + " \n", + " Information about current and past exposure to metals, dust, fibers, fumes, chemicals, biologic hazards, radiation, noise, and/or vibration at work or home.\n", + " definition of HP:4000110 (Exposure history)\n", + " \n", + " \n", + " Atrophy/Degeneration involving the caudate nucleus\n", + " definition of HP:0007374 (Atrophy/Degeneration involving the caudate nucleus)\n", + " \n", + " \n", + " Progressive sclerosis of skull base\n", + " definition of HP:0005477 (Progressive sclerosis of skull base)\n", + " \n", + " \n", + " Progressively increasing bone density of the skull base without significant changes in bony contour.\n", + " definition of HP:0005477 (Progressive sclerosis of skull base)\n", + " \n", + " \n", + " Abnormal atrioventricular valve physiology\n", + " definition of HP:0031650 (Abnormal atrioventricular valve physiology)\n", + " \n", + " \n", + " Any functional defect of the mitral or tricuspid valve.\n", + " definition of HP:0031650 (Abnormal atrioventricular valve physiology)\n", + " \n", + " \n", + " Separation insecurity\n", + " definition of HP:0031468 (Separation insecurity)\n", + " \n", + " \n", + " Fears of rejection by and/or separation from significant others are associated with fears of excessive dependency and complete loss of autonomy.\n", + " definition of HP:0031468 (Separation insecurity)\n", + " \n", + " \n", + " Increased RBC distribution width\n", + " definition of HP:0031965 (Increased RBC distribution width)\n", + " \n", + " \n", + " Red blood cell distribution width (RDW) is a simple parameter of the standard full blood count and a measure of heterogeneity in the size of circulating erythrocytes. It is provided by automated hematology analyzers and it reflects the range of the red cell size. It is calculated by dividing the standard deviation of erythrocyte volume by the mean corpuscular volume (MCV) and multiplied by 100 to convert to a percentage.\n", + " definition of HP:0031965 (Increased RBC distribution width)\n", + " \n", + " \n", + " #Increased red blood cell distribution width\n", + " definition of HP:0031965 (Increased RBC distribution width)\n", + " \n", + " \n", + " Flexion contracture of toe\n", + " definition of HP:0005830 (Flexion contracture of toe)\n", + " \n", + " \n", + " One or more bent (flexed) toe joints that cannot be straightened actively or passively.\n", + " definition of HP:0005830 (Flexion contracture of toe)\n", + " \n", + " \n", + " #Contractures involving the toes #Contractures of the toes #Toe contractures\n", + " definition of HP:0005830 (Flexion contracture of toe)\n", + " \n", + " \n", + " Intestinal fistula\n", + " definition of HP:0100819 (Intestinal fistula)\n", + " \n", + " \n", + " An abnormal connection between the gut and another hollow organ, such as the bladder, urethra, vagina, or other regions of the gastrointestinal tract.\n", + " definition of HP:0100819 (Intestinal fistula)\n", + " \n", + " \n", + " Limited head nodding or shaking\n", + " definition of HP:5200056 (Limited head nodding or shaking)\n", + " \n", + " \n", + " Absence or reduction in the use of head nodding to indicate agreement or head shaking to indicate disagreement.\n", + " definition of HP:5200056 (Limited head nodding or shaking)\n", + " \n", + " \n", + " Oliguria\n", + " definition of HP:0100520 (Oliguria)\n", + " \n", + " \n", + " Low output of urine, clinically classified as an output below 300-500ml/day.\n", + " definition of HP:0100520 (Oliguria)\n", + " \n", + " \n", + " Enlarged epiphysis of the middle phalanx of the 3rd finger\n", + " definition of HP:0009324 (Enlarged epiphysis of the middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms.\n", + " definition of HP:0009324 (Enlarged epiphysis of the middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Enlarged end part of the middle bone of the middle finger\n", + " definition of HP:0009324 (Enlarged epiphysis of the middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " Green urine\n", + " definition of HP:0032003 (Green urine)\n", + " \n", + " \n", + " An abnormal green color of urine.\n", + " definition of HP:0032003 (Green urine)\n", + " \n", + " \n", + " Dull\n", + " definition of HP:0025282 (Dull)\n", + " \n", + " \n", + " Applied to pain that is dull, i.e., not severe but that continues over a long period of time.\n", + " definition of HP:0025282 (Dull)\n", + " \n", + " \n", + " #Dull pain\n", + " definition of HP:0025282 (Dull)\n", + " \n", + " \n", + " Vagal paraganglioma\n", + " definition of HP:0002886 (Vagal paraganglioma)\n", + " \n", + " \n", + " A tumor that develops in the retrostyloid compartment of the parapharyngeal space, arising from an island of paraganglion tissue derived from the neural crest that is located on the vagus nerve.\n", + " definition of HP:0002886 (Vagal paraganglioma)\n", + " \n", + " \n", + " #Glomus vagale tumor #Glomus vagale tumour #Vagal nerve tumors #Vagal nerve tumours\n", + " definition of HP:0002886 (Vagal paraganglioma)\n", + " \n", + " \n", + " Positive respiratory tract nucleic acid pathogen test\n", + " definition of HP:6000836 (Positive respiratory tract nucleic acid pathogen test)\n", + " \n", + " \n", + " Positive (abnormal) result of a sputum or pharyngeal sample test such as polymerase chain reaction that is targeted against a nucleic acid sequence specific for a pathogen.\n", + " definition of HP:6000836 (Positive respiratory tract nucleic acid pathogen test)\n", + " \n", + " \n", + " Pelvic pain\n", + " definition of HP:0034267 (Pelvic pain)\n", + " \n", + " \n", + " Pain perceived in the area of the pelvis, the lower part of the abdomen located between the hip bones.\n", + " definition of HP:0034267 (Pelvic pain)\n", + " \n", + " \n", + " #Pain in the pelvis\n", + " definition of HP:0034267 (Pelvic pain)\n", + " \n", + " \n", + " Oropharyngeal squamous papilloma\n", + " definition of HP:0031022 (Oropharyngeal squamous papilloma)\n", + " \n", + " \n", + " A benign exophytic neoplasm that arises from the oropharynx. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium [NCI thesaurus].\n", + " definition of HP:0031022 (Oropharyngeal squamous papilloma)\n", + " \n", + " \n", + " Gustatory sensory seeking\n", + " definition of HP:5200063 (Gustatory sensory seeking)\n", + " \n", + " \n", + " Pursuit of a particular taste that is abnormal in intensity and/or frequency.\n", + " definition of HP:5200063 (Gustatory sensory seeking)\n", + " \n", + " \n", + " Broad diaphyses of the upper limbs\n", + " definition of HP:0003861 (Broad diaphyses of the upper limbs)\n", + " \n", + " \n", + " #Broad shaft of long bone of the upper limbs #Wide diaphyses of the upper limbs #Wide shaft of long bone of the upper limbs\n", + " definition of HP:0003861 (Broad diaphyses of the upper limbs)\n", + " \n", + " \n", + " Premature graying of body hair\n", + " definition of HP:0004771 (Premature graying of body hair)\n", + " \n", + " \n", + " #Premature graying of body hair #Premature greying of body hair\n", + " definition of HP:0004771 (Premature graying of body hair)\n", + " \n", + " \n", + " Abnormality of the coagulation cascade\n", + " definition of HP:0003256 (Abnormality of the coagulation cascade)\n", + " \n", + " \n", + " An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators.\n", + " definition of HP:0003256 (Abnormality of the coagulation cascade)\n", + " \n", + " \n", + " #Coagulopathy\n", + " definition of HP:0003256 (Abnormality of the coagulation cascade)\n", + " \n", + " \n", + " Small intestinal polyposis\n", + " definition of HP:0030256 (Small intestinal polyposis)\n", + " \n", + " \n", + " The presence of multiple polyps in the small intestine.\n", + " definition of HP:0030256 (Small intestinal polyposis)\n", + " \n", + " \n", + " Dorsocervical fat pad\n", + " definition of HP:0025383 (Dorsocervical fat pad)\n", + " \n", + " \n", + " An area of fat accumulation at the back of the neck in the form of a hump.\n", + " definition of HP:0025383 (Dorsocervical fat pad)\n", + " \n", + " \n", + " #Buffalo hump\n", + " definition of HP:0025383 (Dorsocervical fat pad)\n", + " \n", + " \n", + " Fetal fifth finger clinodactyly\n", + " definition of HP:0011431 (Fetal fifth finger clinodactyly)\n", + " \n", + " \n", + " Fifth finger clinodactyly is defined by a hypoplastic or absent mid-phalanx of the fifth digit. Ultrasound identification of the fetal hand must first be undertaken and then appropriate magnification accomplished. The evaluation requires stretching of the 5 fingers. The diagnosis is established when the middle phalanx of the fifth finger is markedly smaller than normal or absent, which often causes the finger to be curved inward (PMID:16100637).\n", + " definition of HP:0011431 (Fetal fifth finger clinodactyly)\n", + " \n", + " \n", + " #Foetal fifth finger clinodactyly\n", + " definition of HP:0011431 (Fetal fifth finger clinodactyly)\n", + " \n", + " \n", + " Increased circulating guanosine concentration\n", + " definition of HP:0033340 (Increased circulating guanosine concentration)\n", + " \n", + " \n", + " Increased concentration of guanosine in the blood circulation.\n", + " definition of HP:0033340 (Increased circulating guanosine concentration)\n", + " \n", + " \n", + " Midline notch of upper alveolar ridge\n", + " definition of HP:0009084 (Midline notch of upper alveolar ridge)\n", + " \n", + " \n", + " #Midline cleft of maxillary alveolar process #Midline cleft of upper alveolar ridge #Midline notch of maxillary alveolar process #Midline notch of maxillary alveolar ridge #Midline notch of upper gum ridge\n", + " definition of HP:0009084 (Midline notch of upper alveolar ridge)\n", + " \n", + " \n", + " Thin ribs\n", + " definition of HP:0000883 (Thin ribs)\n", + " \n", + " \n", + " Ribs with a reduced diameter.\n", + " definition of HP:0000883 (Thin ribs)\n", + " \n", + " \n", + " #Slender ribs #Thin ribs\n", + " definition of HP:0000883 (Thin ribs)\n", + " \n", + " \n", + " Small epiphyses of the 5th toe\n", + " definition of HP:0100085 (Small epiphyses of the 5th toe)\n", + " \n", + " \n", + " #Small end part of the little toe bone #Small end part of the pinkie toe bone #Small end part of the pinky toe bone\n", + " definition of HP:0100085 (Small epiphyses of the 5th toe)\n", + " \n", + " \n", + " Elevated circulating branched chain amino acid concentration\n", + " definition of HP:0008344 (Elevated circulating branched chain amino acid concentration)\n", + " \n", + " \n", + " Concentration of a branched chain amino acid in the blood above the upper limit of normal.\n", + " definition of HP:0008344 (Elevated circulating branched chain amino acid concentration)\n", + " \n", + " \n", + " Dilated superficial abdominal veins\n", + " definition of HP:0030168 (Dilated superficial abdominal veins)\n", + " \n", + " \n", + " Increase in diameter of the veins located underneath the skin of the abdomen.\n", + " definition of HP:0030168 (Dilated superficial abdominal veins)\n", + " \n", + " \n", + " #Dilatation of the superficial abdominal veins\n", + " definition of HP:0030168 (Dilated superficial abdominal veins)\n", + " \n", + " \n", + " Reduced circulating interleukin 12 concentration\n", + " definition of HP:6000487 (Reduced circulating interleukin 12 concentration)\n", + " \n", + " \n", + " The concentration of interleukin 12 (IL-12) in the blood circulation is below the lower limit of normal.\n", + " definition of HP:6000487 (Reduced circulating interleukin 12 concentration)\n", + " \n", + " \n", + " Elevated fecal pH\n", + " definition of HP:0032489 (Elevated fecal pH)\n", + " \n", + " \n", + " Abnormally high fecal pH, i.e., abnormal alkalinity of feces.\n", + " definition of HP:0032489 (Elevated fecal pH)\n", + " \n", + " \n", + " #Elevated faecal pH #Stool pH high\n", + " definition of HP:0032489 (Elevated fecal pH)\n", + " \n", + " \n", + " Anti-mycoplasma antibody positivity\n", + " definition of HP:0430079 (Anti-mycoplasma antibody positivity)\n", + " \n", + " \n", + " The presence of antibodies in the blood circulation that react against a mycoplasmal component.\n", + " definition of HP:0430079 (Anti-mycoplasma antibody positivity)\n", + " \n", + " \n", + " Abnormal venous morphology\n", + " definition of HP:0002624 (Abnormal venous morphology)\n", + " \n", + " \n", + " An anomaly of vein.\n", + " definition of HP:0002624 (Abnormal venous morphology)\n", + " \n", + " \n", + " #Abnormal vein #Venous abnormality\n", + " definition of HP:0002624 (Abnormal venous morphology)\n", + " \n", + " \n", + " Impaired ocular abduction\n", + " definition of HP:0000634 (Impaired ocular abduction)\n", + " \n", + " \n", + " An impaired ability of the eye to move in the outward direction (towards the side of the head).\n", + " definition of HP:0000634 (Impaired ocular abduction)\n", + " \n", + " \n", + " Fractured tibia\n", + " definition of HP:0041143 (Fractured tibia)\n", + " \n", + " \n", + " A partial or complete breakage of the tibia.\n", + " definition of HP:0041143 (Fractured tibia)\n", + " \n", + " \n", + " #bone tibia #Broken tibia #Fracture of the tibia #Tibial fracture\n", + " definition of HP:0041143 (Fractured tibia)\n", + " \n", + " \n", + " History of spicy food intake\n", + " definition of HP:6000026 (History of spicy food intake)\n", + " \n", + " \n", + " A history of high intake of spciy foods with ingrediaents such as capsaicin, pepper, chili, ginger, garlic, onion, fenugreek, and turmeric.\n", + " definition of HP:6000026 (History of spicy food intake)\n", + " \n", + " \n", + " Fibular torsion\n", + " definition of HP:6000921 (Fibular torsion)\n", + " \n", + " \n", + " Excessively rotated (also called torsion) position of the fibula (calf bone). An increased external rotation of the fibula in the incisura tibiofibularis of more than 5 degrees may lead to an increased pressure and will negatively affect the cartilage.\n", + " definition of HP:6000921 (Fibular torsion)\n", + " \n", + " \n", + " #Fibular rotation\n", + " definition of HP:6000921 (Fibular torsion)\n", + " \n", + " \n", + " Elevated monolysocardiolipin/cardiolipin ratio\n", + " definition of HP:6000517 (Elevated monolysocardiolipin/cardiolipin ratio)\n", + " \n", + " \n", + " The concentration of monolysocardiolipin related to that of cardiolipin is above the upper limit of normal. This is a functional assay that can be performed from a blood spot to diagnose Barth syndrome (OMIM:302060).\n", + " definition of HP:6000517 (Elevated monolysocardiolipin/cardiolipin ratio)\n", + " \n", + " \n", + " Transient erythroblastopenia\n", + " definition of HP:0005510 (Transient erythroblastopenia)\n", + " \n", + " \n", + " A transient reduction in the number of erythroblasts in the circulation.\n", + " definition of HP:0005510 (Transient erythroblastopenia)\n", + " \n", + " \n", + " #Transient decrease in blood erythrocyte number\n", + " definition of HP:0005510 (Transient erythroblastopenia)\n", + " \n", + " \n", + " Unaided visual acuity 0.5 LogMAR\n", + " definition of HP:0030540 (Unaided visual acuity 0.5 LogMAR)\n", + " \n", + " \n", + " Elevated circulating interleukin 1 receptor antagonist concentration\n", + " definition of HP:6000758 (Elevated circulating interleukin 1 receptor antagonist concentration)\n", + " \n", + " \n", + " The concentration of interleukin 1 receptor antagonist (IL-1RA) in the blood circulation is above the upper limit of normal.\n", + " definition of HP:6000758 (Elevated circulating interleukin 1 receptor antagonist concentration)\n", + " \n", + " \n", + " Vasculitis in the skin\n", + " definition of HP:0200029 (Vasculitis in the skin)\n", + " \n", + " \n", + " A type of vasculitis (inflammation of blood vessel walls) that affects skeletal muscle tissue.\n", + " definition of HP:0200029 (Vasculitis in the skin)\n", + " \n", + " \n", + " #Cutaneous vasculitis\n", + " definition of HP:0200029 (Vasculitis in the skin)\n", + " \n", + " \n", + " Cranial nerve compression\n", + " definition of HP:0001293 (Cranial nerve compression)\n", + " \n", + " \n", + " Reduced brain glutamine level by MRS\n", + " definition of HP:0030980 (Reduced brain glutamine level by MRS)\n", + " \n", + " \n", + " An decrease in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS).\n", + " definition of HP:0030980 (Reduced brain glutamine level by MRS)\n", + " \n", + " \n", + " Cold-sensitive myotonia\n", + " definition of HP:0012904 (Cold-sensitive myotonia)\n", + " \n", + " \n", + " An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation that is induced by exposure to cold.\n", + " definition of HP:0012904 (Cold-sensitive myotonia)\n", + " \n", + " \n", + " Absent patellar reflexes\n", + " definition of HP:0006844 (Absent patellar reflexes)\n", + " \n", + " \n", + " Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella.\n", + " definition of HP:0006844 (Absent patellar reflexes)\n", + " \n", + " \n", + " #Absent knee jerk reflex\n", + " definition of HP:0006844 (Absent patellar reflexes)\n", + " \n", + " \n", + " Absent leukocyte alkaline phosphatase\n", + " definition of HP:0008161 (Absent leukocyte alkaline phosphatase)\n", + " \n", + " \n", + " Alkaline phosphatase levels measured within leukocytes is below detectable levels.\n", + " definition of HP:0008161 (Absent leukocyte alkaline phosphatase)\n", + " \n", + " \n", + " #Absent leukocyte ALP\n", + " definition of HP:0008161 (Absent leukocyte alkaline phosphatase)\n", + " \n", + " \n", + " CSF polymorphonuclear pleocytosis\n", + " definition of HP:0012756 (CSF polymorphonuclear pleocytosis)\n", + " \n", + " \n", + " An increased polymorphonuclear cell count in the cerebrospinal fluid.\n", + " definition of HP:0012756 (CSF polymorphonuclear pleocytosis)\n", + " \n", + " \n", + " Renal arteriole lymphocyte endoarterial hypercellularity\n", + " definition of HP:0033925 (Renal arteriole lymphocyte endoarterial hypercellularity)\n", + " \n", + " \n", + " A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of increased number of lymphocytes in the arteriolar lumen.\n", + " definition of HP:0033925 (Renal arteriole lymphocyte endoarterial hypercellularity)\n", + " \n", + " \n", + " #Endoarterial hypercellularity within arterioles consisting of lymphocytes\n", + " definition of HP:0033925 (Renal arteriole lymphocyte endoarterial hypercellularity)\n", + " \n", + " \n", + " Chronic lymphatic leukemia\n", + " definition of HP:0005550 (Chronic lymphatic leukemia)\n", + " \n", + " \n", + " A chronic lymphocytic/lymphatic/lymphoblastic leukemia (CLL) is a neoplastic disease characterized by proliferation and accumulation (blood, marrow and lymphoid organs) of morphologically mature but immunologically dysfunctional lymphocytes. A CLL is always a B-cell lymphocytic leukemia as there are no reports of cases of T-cell lymphocytic leukemias.\n", + " definition of HP:0005550 (Chronic lymphatic leukemia)\n", + " \n", + " \n", + " #Chronic lymphatic leukaemia #Chronic lymphocytic leukaemia #Chronic lymphocytic leukemia\n", + " definition of HP:0005550 (Chronic lymphatic leukemia)\n", + " \n", + " \n", + " Pediculosis capitis\n", + " definition of HP:6000743 (Pediculosis capitis)\n", + " \n", + " \n", + " Visualization of at least one louse on visual inspection of the head hair. Use of a bright light, magnifying lens, or fine-toothed comb (lice comb) can aid in diagnosis.\n", + " definition of HP:6000743 (Pediculosis capitis)\n", + " \n", + " \n", + " Abnormal iron deposition in mitochondria\n", + " definition of HP:0008306 (Abnormal iron deposition in mitochondria)\n", + " \n", + " \n", + " Reduced tissue beta-mannosidase activity\n", + " definition of HP:4000205 (Reduced tissue beta-mannosidase activity)\n", + " \n", + " \n", + " Concentration or activity of beta-mannosidase (EC 3.2.1.25) below the lower limit of normal. Beta-mannosidas enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts.\n", + " definition of HP:4000205 (Reduced tissue beta-mannosidase activity)\n", + " \n", + " \n", + " Cerebral contusion\n", + " definition of HP:6000141 (Cerebral contusion)\n", + " \n", + " \n", + " A contusion is a region of injured tissue in which blood capillaries have been ruptured without laceration (bruise). Brain contusions are bruises of the cortical surface that damage the surface from the outside inward, producing disruption of tissue and vessels. The term cerebral contusion describes the pathology of focal necrosis and hemorrhage, typically observed in older children, involving particularly cerebral cortex and subcortical white matter. Such lesions are usually found in coup and contrecoup, as well as inferior orbital, frontal, and temporal locations. Cerebral contusions cause permanent damage to tissues of the cerebrum. The etiology of cerebral contusion is trauma to the head.\n", + " definition of HP:6000141 (Cerebral contusion)\n", + " \n", + " \n", + " Bilateral symmetric neonatal sequential seizure\n", + " definition of HP:0032839 (Bilateral symmetric neonatal sequential seizure)\n", + " \n", + " \n", + " Symmetric neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting symmetrically but with a variety of clinical and electrographic signs.\n", + " definition of HP:0032839 (Bilateral symmetric neonatal sequential seizure)\n", + " \n", + " \n", + " Fractured bone of jaw\n", + " definition of HP:0041234 (Fractured bone of jaw)\n", + " \n", + " \n", + " A partial or complete breakage of the bone of jaw.\n", + " definition of HP:0041234 (Fractured bone of jaw)\n", + " \n", + " \n", + " #bone bone of jaw\n", + " definition of HP:0041234 (Fractured bone of jaw)\n", + " \n", + " \n", + " Equinovarus deformity\n", + " definition of HP:0008110 (Equinovarus deformity)\n", + " \n", + " \n", + " Abnormal renal tubule morphology\n", + " definition of HP:0000091 (Abnormal renal tubule morphology)\n", + " \n", + " \n", + " An abnormality of the renal tubules.\n", + " definition of HP:0000091 (Abnormal renal tubule morphology)\n", + " \n", + " \n", + " #Abnormality of the renal tubule #Morphologic abnormality of the renal tubules\n", + " definition of HP:0000091 (Abnormal renal tubule morphology)\n", + " \n", + " \n", + " Abnormality of the trapezium\n", + " definition of HP:0004252 (Abnormality of the trapezium)\n", + " \n", + " \n", + " An anomaly of trapezium.\n", + " definition of HP:0004252 (Abnormality of the trapezium)\n", + " \n", + " \n", + " Argininosuccinic aciduria\n", + " definition of HP:0025630 (Argininosuccinic aciduria)\n", + " \n", + " \n", + " Increased amount of argininosuccinate in the urine.\n", + " definition of HP:0025630 (Argininosuccinic aciduria)\n", + " \n", + " \n", + " Episodic\n", + " definition of HP:0025303 (Episodic)\n", + " \n", + " \n", + " Applied to a sign, symptom, or other manifestation that occurs multiple times at usually irregular intervals. The occurrences are separated by an interval in which the sign, symptom, or manifestation is not present.\n", + " definition of HP:0025303 (Episodic)\n", + " \n", + " \n", + " #Now and then\n", + " definition of HP:0025303 (Episodic)\n", + " \n", + " \n", + " Pseudoepiphyses of the phalanges of the hand\n", + " definition of HP:0010235 (Pseudoepiphyses of the phalanges of the hand)\n", + " \n", + " \n", + " A secondary ossification center in the phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.\n", + " definition of HP:0010235 (Pseudoepiphyses of the phalanges of the hand)\n", + " \n", + " \n", + " #Pseudoepiphysis of the fingers\n", + " definition of HP:0010235 (Pseudoepiphyses of the phalanges of the hand)\n", + " \n", + " \n", + " Flared distal tibial metaphysis\n", + " definition of HP:0030308 (Flared distal tibial metaphysis)\n", + " \n", + " \n", + " The presence of a splayed (i.e.,flared) metaphyseal segment of the distal tibia.\n", + " definition of HP:0030308 (Flared distal tibial metaphysis)\n", + " \n", + " \n", + " #Flared outermost metaphysis of shankbone #Flared outermost metaphysis of shinbone\n", + " definition of HP:0030308 (Flared distal tibial metaphysis)\n", + " \n", + " \n", + " Abnormal doll's eye reflex\n", + " definition of HP:0032100 (Abnormal doll's eye reflex)\n", + " \n", + " \n", + " The doll's eye reflex (also known as oculocephalic reflex) is a test of brain function that is performed in comatose patients by elevating the head roughly 30 degrees and rapidly rotating the head from side to side with the eyes kept open. A normal response is for the eyes to move in the opposite direction. If the eyes do not move in the opposite direction this may indicate severe brain damage.\n", + " definition of HP:0032100 (Abnormal doll's eye reflex)\n", + " \n", + " \n", + " Fractured rib\n", + " definition of HP:0041159 (Fractured rib)\n", + " \n", + " \n", + " A partial or complete breakage of the rib.\n", + " definition of HP:0041159 (Fractured rib)\n", + " \n", + " \n", + " #bone rib\n", + " definition of HP:0041159 (Fractured rib)\n", + " \n", + " \n", + " Conjunctival nodule\n", + " definition of HP:0009903 (Conjunctival nodule)\n", + " \n", + " \n", + " Presence of nodules in the conjunctiva of the eye.\n", + " definition of HP:0009903 (Conjunctival nodule)\n", + " \n", + " \n", + " Stippling of the epiphysis of the distal phalanx of the thumb\n", + " definition of HP:0009684 (Stippling of the epiphysis of the distal phalanx of the thumb)\n", + " \n", + " \n", + " The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the thumb.\n", + " definition of HP:0009684 (Stippling of the epiphysis of the distal phalanx of the thumb)\n", + " \n", + " \n", + " #Speckled calcifications in the end part of the outermost thumb bone\n", + " definition of HP:0009684 (Stippling of the epiphysis of the distal phalanx of the thumb)\n", + " \n", + " \n", + " Elevated CSF dopamine concentration\n", + " definition of HP:0012655 (Elevated CSF dopamine concentration)\n", + " \n", + " \n", + " Increased concentration of dopamine in the cerebrospinal fluid (CSF).\n", + " definition of HP:0012655 (Elevated CSF dopamine concentration)\n", + " \n", + " \n", + " Abnormal extraocular muscle physiology\n", + " definition of HP:0025590 (Abnormal extraocular muscle physiology)\n", + " \n", + " \n", + " A functional anomaly of the muscles of the eye.\n", + " definition of HP:0025590 (Abnormal extraocular muscle physiology)\n", + " \n", + " \n", + " Neutral hyperaminoaciduria\n", + " definition of HP:0008353 (Neutral hyperaminoaciduria)\n", + " \n", + " \n", + " The presence of an abnormally increased concentration of neutral amino acids in the urine. The neutral amino acids are tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine.\n", + " definition of HP:0008353 (Neutral hyperaminoaciduria)\n", + " \n", + " \n", + " Abnormal glucose-6-phosphate dehydrogenase level in leukocytes\n", + " definition of HP:0410183 (Abnormal glucose-6-phosphate dehydrogenase level in leukocytes)\n", + " \n", + " \n", + " An anomaly in the level of glucose-6-phosphate dehydrogenase in leukocytes.\n", + " definition of HP:0410183 (Abnormal glucose-6-phosphate dehydrogenase level in leukocytes)\n", + " \n", + " \n", + " #Abnormal G6PD level in leukocytes\n", + " definition of HP:0410183 (Abnormal glucose-6-phosphate dehydrogenase level in leukocytes)\n", + " \n", + " \n", + " Enlarged epiphysis of the middle phalanx of the 4th finger\n", + " definition of HP:0009217 (Enlarged epiphysis of the middle phalanx of the 4th finger)\n", + " \n", + " \n", + " Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms.\n", + " definition of HP:0009217 (Enlarged epiphysis of the middle phalanx of the 4th finger)\n", + " \n", + " \n", + " #Enlarged end part of the middle bone of the ring finger\n", + " definition of HP:0009217 (Enlarged epiphysis of the middle phalanx of the 4th finger)\n", + " \n", + " \n", + " Epiphyseal stippling of toe phalanges\n", + " definition of HP:0010171 (Epiphyseal stippling of toe phalanges)\n", + " \n", + " \n", + " The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the toes.\n", + " definition of HP:0010171 (Epiphyseal stippling of toe phalanges)\n", + " \n", + " \n", + " #Speckled calcifications in long toe bones #Stippling of the epiphyses of the toes\n", + " definition of HP:0010171 (Epiphyseal stippling of toe phalanges)\n", + " \n", + " \n", + " Nematode in retina\n", + " definition of HP:6000844 (Nematode in retina)\n", + " \n", + " \n", + " Demonstration of a nematode (roundworm) in the retina, generally by an imaging procedure such as fundoscopy.\n", + " definition of HP:6000844 (Nematode in retina)\n", + " \n", + " \n", + " Thin eyebrow\n", + " definition of HP:0045074 (Thin eyebrow)\n", + " \n", + " \n", + " Decreased diameter of eyebrow hairs.\n", + " definition of HP:0045074 (Thin eyebrow)\n", + " \n", + " \n", + " #Thin eyebrow #Thin eyebrows\n", + " definition of HP:0045074 (Thin eyebrow)\n", + " \n", + " \n", + " Short intermamillary distance\n", + " definition of HP:0040158 (Short intermamillary distance)\n", + " \n", + " \n", + " Subcortical cerebral atrophy\n", + " definition of HP:0012157 (Subcortical cerebral atrophy)\n", + " \n", + " \n", + " Atrophy of the cerebral subcortical white and gray matter, termed subcortical atrophy, reflects loss of nerve cells in the basal ganglia or fibers in the deep white matter.\n", + " definition of HP:0012157 (Subcortical cerebral atrophy)\n", + " \n", + " \n", + " Anterior segment of eye aplasia\n", + " definition of HP:0007779 (Anterior segment of eye aplasia)\n", + " \n", + " \n", + " Abnormality iris morphology\n", + " definition of HP:0000525 (Abnormality iris morphology)\n", + " \n", + " \n", + " An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil.\n", + " definition of HP:0000525 (Abnormality iris morphology)\n", + " \n", + " \n", + " #Abnormality of the iris\n", + " definition of HP:0000525 (Abnormality iris morphology)\n", + " \n", + " \n", + " Left ventricular noncompaction\n", + " definition of HP:0030682 (Left ventricular noncompaction)\n", + " \n", + " \n", + " Left ventricular noncompaction (LVNC) is defined by 3 markers: prominent left ventricular (LV) trabeculae, deep intertrabecular recesses, and the thin compacted layer.\n", + " definition of HP:0030682 (Left ventricular noncompaction)\n", + " \n", + " \n", + " Broad eyebrow\n", + " definition of HP:0011229 (Broad eyebrow)\n", + " \n", + " \n", + " Regional increase in the width (height) of the eyebrow.\n", + " definition of HP:0011229 (Broad eyebrow)\n", + " \n", + " \n", + " #Broad eyebrow #Broad eyebrows #Flared eyebrow #Increased vertical height of eyebrow #Increased vertical thickness of eyebrow\n", + " definition of HP:0011229 (Broad eyebrow)\n", + " \n", + " \n", + " Hypermyelinated retinal nerve fibers\n", + " definition of HP:0007922 (Hypermyelinated retinal nerve fibers)\n", + " \n", + " \n", + " #Hypermyelinated retinal nerve fibres #Retinal striation\n", + " definition of HP:0007922 (Hypermyelinated retinal nerve fibers)\n", + " \n", + " \n", + " Titubation\n", + " definition of HP:0030187 (Titubation)\n", + " \n", + " \n", + " Nodding movement of the head or body.\n", + " definition of HP:0030187 (Titubation)\n", + " \n", + " \n", + " Discontinuous ascending root of helix\n", + " definition of HP:0011264 (Discontinuous ascending root of helix)\n", + " \n", + " \n", + " Interruption between the ascending helix and the crus helix, allowing the ascending helix to be attached directly to the mastoid.\n", + " definition of HP:0011264 (Discontinuous ascending root of helix)\n", + " \n", + " \n", + " #Helix, discontinuous ascending root\n", + " definition of HP:0011264 (Discontinuous ascending root of helix)\n", + " \n", + " \n", + " Paroxysmal atrial tachycardia\n", + " definition of HP:0006671 (Paroxysmal atrial tachycardia)\n", + " \n", + " \n", + " Neoplasm of the breast\n", + " definition of HP:0100013 (Neoplasm of the breast)\n", + " \n", + " \n", + " A tumor (abnormal growth of tissue) of the breast.\n", + " definition of HP:0100013 (Neoplasm of the breast)\n", + " \n", + " \n", + " #Breast tumor #Breast tumour #Tumours of the breast\n", + " definition of HP:0100013 (Neoplasm of the breast)\n", + " \n", + " \n", + " Chronic diarrhea\n", + " definition of HP:0002028 (Chronic diarrhea)\n", + " \n", + " \n", + " The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.\n", + " definition of HP:0002028 (Chronic diarrhea)\n", + " \n", + " \n", + " #Chronic diarrhea #Chronic diarrhoea\n", + " definition of HP:0002028 (Chronic diarrhea)\n", + " \n", + " \n", + " Temporal cortical atrophy\n", + " definition of HP:0007112 (Temporal cortical atrophy)\n", + " \n", + " \n", + " Atrophy of the temporal cortex.\n", + " definition of HP:0007112 (Temporal cortical atrophy)\n", + " \n", + " \n", + " Complete duplication of the phalanges of the 2nd finger\n", + " definition of HP:0009957 (Complete duplication of the phalanges of the 2nd finger)\n", + " \n", + " \n", + " A complete duplication affecting one or more of the phalanges of the 2nd finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.\n", + " definition of HP:0009957 (Complete duplication of the phalanges of the 2nd finger)\n", + " \n", + " \n", + " #Complete duplication of the bones of the index finger\n", + " definition of HP:0009957 (Complete duplication of the phalanges of the 2nd finger)\n", + " \n", + " \n", + " Linear nevus sebaceous\n", + " definition of HP:0010817 (Linear nevus sebaceous)\n", + " \n", + " \n", + " A type of nevus sebaceous with a linear form, raised borders and yellowish color.\n", + " definition of HP:0010817 (Linear nevus sebaceous)\n", + " \n", + " \n", + " Decreased circulating terminal complement component concentration\n", + " definition of HP:0033057 (Decreased circulating terminal complement component concentration)\n", + " \n", + " \n", + " Concentration below the lower limit of normal of one or more components of the the terminal membrane attack complex (MAC) portion of complement, which represents the lytic, pore-forming part of the system. The MAC comprises seven components: C5b, C6, C7, C8 (a heterotrimer composed of C8alpha, C8beta and C8gamma) and multiple copies of C9.\n", + " definition of HP:0033057 (Decreased circulating terminal complement component concentration)\n", + " \n", + " \n", + " #Decreased serum terminal complement component\n", + " definition of HP:0033057 (Decreased circulating terminal complement component concentration)\n", + " \n", + " \n", + " Abnormal brain glutamine level by MRS\n", + " definition of HP:0034496 (Abnormal brain glutamine level by MRS)\n", + " \n", + " \n", + " A deviation from normal in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS).\n", + " definition of HP:0034496 (Abnormal brain glutamine level by MRS)\n", + " \n", + " \n", + " Inferior oblique muscle weakness\n", + " definition of HP:0025598 (Inferior oblique muscle weakness)\n", + " \n", + " \n", + " Decreased strength of the inferior oblique muscle.\n", + " definition of HP:0025598 (Inferior oblique muscle weakness)\n", + " \n", + " \n", + " #Inferior oblique palsy\n", + " definition of HP:0025598 (Inferior oblique muscle weakness)\n", + " \n", + " \n", + " Arcuate artery intraluminal thrombi\n", + " definition of HP:0033898 (Arcuate artery intraluminal thrombi)\n", + " \n", + " \n", + " Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arcuate arteries of the kidney.\n", + " definition of HP:0033898 (Arcuate artery intraluminal thrombi)\n", + " \n", + " \n", + " #Intraluminal thrombi within arcuate arterial lumen\n", + " definition of HP:0033898 (Arcuate artery intraluminal thrombi)\n", + " \n", + " \n", + " Hypoornithinemia\n", + " definition of HP:0500163 (Hypoornithinemia)\n", + " \n", + " \n", + " An abnormal decrease in ornithine in the blood.\n", + " definition of HP:0500163 (Hypoornithinemia)\n", + " \n", + " \n", + " #Decreased blood ornithine concentrations #Low blood ornithine levels\n", + " definition of HP:0500163 (Hypoornithinemia)\n", + " \n", + " \n", + " Abnormal hand morphology\n", + " definition of HP:0005922 (Abnormal hand morphology)\n", + " \n", + " \n", + " Any structural anomaly of the hand.\n", + " definition of HP:0005922 (Abnormal hand morphology)\n", + " \n", + " \n", + " #Abnormal shape of hand\n", + " definition of HP:0005922 (Abnormal hand morphology)\n", + " \n", + " \n", + " Motor stereotypy\n", + " definition of HP:0000733 (Motor stereotypy)\n", + " \n", + " \n", + " Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose.\n", + " definition of HP:0000733 (Motor stereotypy)\n", + " \n", + " \n", + " #Abnormal repetitive mannerism #Repetitive behavior #repetitive behaviour #Repetitive behaviour Stereotypic behaviour #Repetitive movements #Repetitive, stereotypic behavior #Stereotyped #Stereotyped behavior #Stereotyped behaviors #Stereotyped behaviour #Stereotyped behaviours #Stereotypic behaviour #Stereotypic behaviours #Stereotypical motor behavior #Stereotypical motor behaviors #Stereotypical motor behaviour #Stereotypical motor behaviours #Stimming\n", + " definition of HP:0000733 (Motor stereotypy)\n", + " \n", + " \n", + " Typical perifissural nodule\n", + " definition of HP:0033619 (Typical perifissural nodule)\n", + " \n", + " \n", + " A perifissural nodule that has contact with the interlobar septum (and is therefore considered typical).\n", + " definition of HP:0033619 (Typical perifissural nodule)\n", + " \n", + " \n", + " Postnatal-onset ichthyosiform erythroderma\n", + " definition of HP:0007395 (Postnatal-onset ichthyosiform erythroderma)\n", + " \n", + " \n", + " A type of ichthyosiform erythroderma with postnatal onset.\n", + " definition of HP:0007395 (Postnatal-onset ichthyosiform erythroderma)\n", + " \n", + " \n", + " #Postnatal-onset ichthyosis\n", + " definition of HP:0007395 (Postnatal-onset ichthyosiform erythroderma)\n", + " \n", + " \n", + " Wet voice\n", + " definition of HP:6001011 (Wet voice)\n", + " \n", + " \n", + " Wet voice is a perceptual vocal quality that is gurgly or liquid sounding and is due to the voice being produced through moisture. It is commonly used as an indicator of penetration and/or aspiration in clinical swallowing assessments and bedside screening tests.\n", + " definition of HP:6001011 (Wet voice)\n", + " \n", + " \n", + " Acroosteolysis of distal phalanges (feet)\n", + " definition of HP:0001870 (Acroosteolysis of distal phalanges (feet))\n", + " \n", + " \n", + " #Acroosteolysis of distal phalanges of feet\n", + " definition of HP:0001870 (Acroosteolysis of distal phalanges (feet))\n", + " \n", + " \n", + " Abnormality of nasalis muscle\n", + " definition of HP:3000009 (Abnormality of nasalis muscle)\n", + " \n", + " \n", + " An abnormality of a nasalis muscle.\n", + " definition of HP:3000009 (Abnormality of nasalis muscle)\n", + " \n", + " \n", + " Increased urinary cortisol level\n", + " definition of HP:0012030 (Increased urinary cortisol level)\n", + " \n", + " \n", + " Abnormally increased concentration of cortisol in the urine.\n", + " definition of HP:0012030 (Increased urinary cortisol level)\n", + " \n", + " \n", + " #High urine cortisol level\n", + " definition of HP:0012030 (Increased urinary cortisol level)\n", + " \n", + " \n", + " Failure of eruption of permanent teeth\n", + " definition of HP:0006352 (Failure of eruption of permanent teeth)\n", + " \n", + " \n", + " Lack of tooth eruption of the secondary dentition.\n", + " definition of HP:0006352 (Failure of eruption of permanent teeth)\n", + " \n", + " \n", + " #Failure of eruption of adult teeth\n", + " definition of HP:0006352 (Failure of eruption of permanent teeth)\n", + " \n", + " \n", + " Delayed ossification of the scaphoid\n", + " definition of HP:0004246 (Delayed ossification of the scaphoid)\n", + " \n", + " \n", + " Formation of bone tissue of scaphoid is less than expected for age.\n", + " definition of HP:0004246 (Delayed ossification of the scaphoid)\n", + " \n", + " \n", + " #Delayed maturation of the scaphoid\n", + " definition of HP:0004246 (Delayed ossification of the scaphoid)\n", + " \n", + " \n", + " Uniparental heterodisomy\n", + " definition of HP:0032383 (Uniparental heterodisomy)\n", + " \n", + " \n", + " A type of uniparental disomy in which the two different chromosomes (or chromosome segments) of the same parent are transmitted.\n", + " definition of HP:0032383 (Uniparental heterodisomy)\n", + " \n", + " \n", + " Abnormality of the hypothenar eminence\n", + " definition of HP:0010486 (Abnormality of the hypothenar eminence)\n", + " \n", + " \n", + " An abnormality of the hypothenar eminence, i.e., of the muscles on the ulnar side of the palm of the hand (i.e., on the side of the little finger).\n", + " definition of HP:0010486 (Abnormality of the hypothenar eminence)\n", + " \n", + " \n", + " Reduced tissue glycine cleavage enzyme activity\n", + " definition of HP:6000829 (Reduced tissue glycine cleavage enzyme activity)\n", + " \n", + " \n", + " Concentration or activity of the glycine cleavage enzyme below the lower limit of normal. This enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts.\n", + " definition of HP:6000829 (Reduced tissue glycine cleavage enzyme activity)\n", + " \n", + " \n", + " Out-toeing\n", + " definition of HP:6001056 (Out-toeing)\n", + " \n", + " \n", + " The feet turn excessively outward when walking, caused by a rotational variation in the leg.\n", + " definition of HP:6001056 (Out-toeing)\n", + " \n", + " \n", + " #Duck feet #External rotated feet #Toeing out\n", + " definition of HP:6001056 (Out-toeing)\n", + " \n", + " \n", + " Retinal dysplasia\n", + " definition of HP:0007973 (Retinal dysplasia)\n", + " \n", + " \n", + " The presence of developmental dysplasia of the retina.\n", + " definition of HP:0007973 (Retinal dysplasia)\n", + " \n", + " \n", + " #Retinal dysgenesis\n", + " definition of HP:0007973 (Retinal dysplasia)\n", + " \n", + " \n", + " Fractured manual digit bone\n", + " definition of HP:0041224 (Fractured manual digit bone)\n", + " \n", + " \n", + " A partial or complete breakage of the manual digit bone.\n", + " definition of HP:0041224 (Fractured manual digit bone)\n", + " \n", + " \n", + " #bone manual digit bone\n", + " definition of HP:0041224 (Fractured manual digit bone)\n", + " \n", + " \n", + " Instep location\n", + " definition of HP:0034439 (Instep location)\n", + " \n", + " \n", + " Applies to an abnormality that is situated in the arched middle portion of the foot in front of the ankle joint (i.e., instep).\n", + " definition of HP:0034439 (Instep location)\n", + " \n", + " \n", + " #Instep localization to skin abnormality\n", + " definition of HP:0034439 (Instep location)\n", + " \n", + " \n", + " Tinnitus exacerbated by swallowing\n", + " definition of HP:6000042 (Tinnitus exacerbated by swallowing)\n", + " \n", + " \n", + " Tinnitus (sound heard by a subjhect when no corresponding external sound is present) that is made worse by swallowing.\n", + " definition of HP:6000042 (Tinnitus exacerbated by swallowing)\n", + " \n", + " \n", + " Congenital malformation of the right heart\n", + " definition of HP:0011723 (Congenital malformation of the right heart)\n", + " \n", + " \n", + " Defect or defects of the morphogenesis of the right heart identifiable at birth.\n", + " definition of HP:0011723 (Congenital malformation of the right heart)\n", + " \n", + " \n", + " Central diabetes insipidus\n", + " definition of HP:0000863 (Central diabetes insipidus)\n", + " \n", + " \n", + " A form of diabetes insipidus related to a failure of vasopressin (AVP) release from the hypothalamus.\n", + " definition of HP:0000863 (Central diabetes insipidus)\n", + " \n", + " \n", + " #Neurohypophyseal diabetes insipidus\n", + " definition of HP:0000863 (Central diabetes insipidus)\n", + " \n", + " \n", + " Demyelinating motor neuropathy\n", + " definition of HP:0007220 (Demyelinating motor neuropathy)\n", + " \n", + " \n", + " Demyelination of peripheral motor nerves.\n", + " definition of HP:0007220 (Demyelinating motor neuropathy)\n", + " \n", + " \n", + " Intrarenal reflux\n", + " definition of HP:0033742 (Intrarenal reflux)\n", + " \n", + " \n", + " Severe vesicoureteral reflux reaching the kidney parenchyma.\n", + " definition of HP:0033742 (Intrarenal reflux)\n", + " \n", + " \n", + " CSF pathogen-specific antibody positivity\n", + " definition of HP:0430139 (CSF pathogen-specific antibody positivity)\n", + " \n", + " \n", + " Positive serology in the cerebrospinal fluid (CSF) for a exposure to an infectious agent (i.e., examining CSF for the presence of pathogen-specific antibodies).\n", + " definition of HP:0430139 (CSF pathogen-specific antibody positivity)\n", + " \n", + " \n", + " Intellectual disability, moderate\n", + " definition of HP:0002342 (Intellectual disability, moderate)\n", + " \n", + " \n", + " Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.\n", + " definition of HP:0002342 (Intellectual disability, moderate)\n", + " \n", + " \n", + " #IQ between 34 and 49 #Mental retardation, moderate #Moderate mental deficiency #Moderate mental retardation\n", + " definition of HP:0002342 (Intellectual disability, moderate)\n", + " \n", + " \n", + " Multiple mucosal neuromas\n", + " definition of HP:0031023 (Multiple mucosal neuromas)\n", + " \n", + " \n", + " Multiple painful, dome-shaped, translucent pink to skin-colored papules on oral mucosa. Histologically, the lesions may demonstrate dermal proliferation of well-demarcated nerve bundles associated with abundant mucin and surrounded by a distinct perineural sheath.\n", + " definition of HP:0031023 (Multiple mucosal neuromas)\n", + " \n", + " \n", + " Anomaly of the upper limb diaphyses\n", + " definition of HP:0009808 (Anomaly of the upper limb diaphyses)\n", + " \n", + " \n", + " A structural abnormality of a diaphysis of the arm.\n", + " definition of HP:0009808 (Anomaly of the upper limb diaphyses)\n", + " \n", + " \n", + " #Abnormality involving the diaphyses of the upper limbs #Abnormality of shaft of long bone of the upper limbs #Diaphyseal abnormality of the upper limbs\n", + " definition of HP:0009808 (Anomaly of the upper limb diaphyses)\n", + " \n", + " \n", + " Positive stool giardia antigen\n", + " definition of HP:0034867 (Positive stool giardia antigen)\n", + " \n", + " \n", + " Test for giardia antigen in stool such as immune assay or DFA positive.\n", + " definition of HP:0034867 (Positive stool giardia antigen)\n", + " \n", + " \n", + " Irregular sclerotic endplates\n", + " definition of HP:0008476 (Irregular sclerotic endplates)\n", + " \n", + " \n", + " #irregular, dense end plate\n", + " definition of HP:0008476 (Irregular sclerotic endplates)\n", + " \n", + " \n", + " Vulvar melanoma\n", + " definition of HP:0030418 (Vulvar melanoma)\n", + " \n", + " \n", + " A type of vulvar cancer that originates from melanocytes of the vulva.\n", + " definition of HP:0030418 (Vulvar melanoma)\n", + " \n", + " \n", + " Abnormal anus physiology\n", + " definition of HP:0034916 (Abnormal anus physiology)\n", + " \n", + " \n", + " A functional anomaly of the anus.\n", + " definition of HP:0034916 (Abnormal anus physiology)\n", + " \n", + " \n", + " Positive ferric chloride test\n", + " definition of HP:0003612 (Positive ferric chloride test)\n", + " \n", + " \n", + " If positive, the ferric chloride test indicates an increased concentration of phenols in the urine or blood.\n", + " definition of HP:0003612 (Positive ferric chloride test)\n", + " \n", + " \n", + " #Positive FeCl3 test\n", + " definition of HP:0003612 (Positive ferric chloride test)\n", + " \n", + " \n", + " Lambda Bence Jones proteinuria\n", + " definition of HP:0032303 (Lambda Bence Jones proteinuria)\n", + " \n", + " \n", + " The presence of free monoclonal lambda immunoglobulin light chains in the urine.\n", + " definition of HP:0032303 (Lambda Bence Jones proteinuria)\n", + " \n", + " \n", + " Congenital mitral stenosis\n", + " definition of HP:0011570 (Congenital mitral stenosis)\n", + " \n", + " \n", + " Mitral stenosis with congenital onset.\n", + " definition of HP:0011570 (Congenital mitral stenosis)\n", + " \n", + " \n", + " EEG with changes in voltage\n", + " definition of HP:0011201 (EEG with changes in voltage)\n", + " \n", + " \n", + " EEG with abnormal amplitude.\n", + " definition of HP:0011201 (EEG with changes in voltage)\n", + " \n", + " \n", + " Elongated superior cerebellar peduncle\n", + " definition of HP:0011933 (Elongated superior cerebellar peduncle)\n", + " \n", + " \n", + " Increased length of the superior cerebellar peduncle.\n", + " definition of HP:0011933 (Elongated superior cerebellar peduncle)\n", + " \n", + " \n", + " #Long cerebellar peduncle #Long cerebellar peduncles\n", + " definition of HP:0011933 (Elongated superior cerebellar peduncle)\n", + " \n", + " \n", + " Renal tubular epithelial cell mitosis\n", + " definition of HP:0032604 (Renal tubular epithelial cell mitosis)\n", + " \n", + " \n", + " Tubular epithelial cells in any mitotic phase, identified by distinctively visible chromosome in either prophase, metaphase, anaphase or telophase configuration.\n", + " definition of HP:0032604 (Renal tubular epithelial cell mitosis)\n", + " \n", + " \n", + " Delayed gross motor development\n", + " definition of HP:0002194 (Delayed gross motor development)\n", + " \n", + " \n", + " A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling.\n", + " definition of HP:0002194 (Delayed gross motor development)\n", + " \n", + " \n", + " #Delayed attainment of gross motor milestones #Delayed attainment of gross motor skills #Delayed development of gross motor milestones #Delayed development of gross motor skills #Delayed gross motor milestones #Delayed gross motor skills #Delayed motor skills #Developmental delay, gross motor #Gross motor delay #Limited gross motor development #Limited gross motor skills\n", + " definition of HP:0002194 (Delayed gross motor development)\n", + " \n", + " \n", + " Acinar dysplasia\n", + " definition of HP:0033209 (Acinar dysplasia)\n", + " \n", + " \n", + " Arrest of lung development in the pseudoglandular stage (weeks 8 to 16 of human gestation) resulting in small sized lungs, predominantly composed of bronchial and bronchiolar structures embedded in abundant loose mesenchyme that is poorly vascularized. Acinar structures are essentially absent, with no significant formation of saccules and no alveoli.\n", + " definition of HP:0033209 (Acinar dysplasia)\n", + " \n", + " \n", + " Interlobular intima/media venosclerosis\n", + " definition of HP:0033964 (Interlobular intima/media venosclerosis)\n", + " \n", + " \n", + " Thickening of the intima with fibrosis and/or duplication of the elastic lamina in interlobular veins of the kidney.\n", + " definition of HP:0033964 (Interlobular intima/media venosclerosis)\n", + " \n", + " \n", + " #Venosclerosis within interlobular vein intima/media\n", + " definition of HP:0033964 (Interlobular intima/media venosclerosis)\n", + " \n", + " \n", + " Viral hepatitis\n", + " definition of HP:0006562 (Viral hepatitis)\n", + " \n", + " \n", + " Inflammation of the liver due to infection with a virus.\n", + " definition of HP:0006562 (Viral hepatitis)\n", + " \n", + " \n", + " Diffuse cerebral atrophy\n", + " definition of HP:0002506 (Diffuse cerebral atrophy)\n", + " \n", + " \n", + " Diffuse unlocalised atrophy affecting the cerebrum.\n", + " definition of HP:0002506 (Diffuse cerebral atrophy)\n", + " \n", + " \n", + " #Cerebral atrophy, diffuse\n", + " definition of HP:0002506 (Diffuse cerebral atrophy)\n", + " \n", + " \n", + " Small epiphyses of the upper limbs\n", + " definition of HP:0003844 (Small epiphyses of the upper limbs)\n", + " \n", + " \n", + " #Small end part of upper limb bones\n", + " definition of HP:0003844 (Small epiphyses of the upper limbs)\n", + " \n", + " \n", + " Symphalangism affecting the proximal phalanx of the 2nd toe\n", + " definition of HP:0010401 (Symphalangism affecting the proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Fused innermost bone of the 2nd toe\n", + " definition of HP:0010401 (Symphalangism affecting the proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Prolonged QRS complex\n", + " definition of HP:0006677 (Prolonged QRS complex)\n", + " \n", + " \n", + " Increased time for the complex comprised of the Q wave, R wave, and S wave as measured by the electrocardiogram (EKG).. In adults, normal values are 0.06 - 0.10 sec.\n", + " definition of HP:0006677 (Prolonged QRS complex)\n", + " \n", + " \n", + " #Intraventricular conduction delay #Prolonged QRS complex on EKG #QRS widening\n", + " definition of HP:0006677 (Prolonged QRS complex)\n", + " \n", + " \n", + " Sclerosis of the proximal phalanx of the 2nd toe\n", + " definition of HP:0100931 (Sclerosis of the proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " An elevation in bone density in the proximal phalanx of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.\n", + " definition of HP:0100931 (Sclerosis of the proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Increased bone density in the innermost bone of the 2nd toe\n", + " definition of HP:0100931 (Sclerosis of the proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Reduced proximal interphalangeal joint space\n", + " definition of HP:0006019 (Reduced proximal interphalangeal joint space)\n", + " \n", + " \n", + " #Decreased space in hinge joint\n", + " definition of HP:0006019 (Reduced proximal interphalangeal joint space)\n", + " \n", + " \n", + " Fluctuance on palpation\n", + " definition of HP:0040409 (Fluctuance on palpation)\n", + " \n", + " \n", + " Yielding to alternate pressure by palpating fingers so as to suggest that the area being felt contains fluid.\n", + " definition of HP:0040409 (Fluctuance on palpation)\n", + " \n", + " \n", + " Flexion contracture of the hallux\n", + " definition of HP:0010212 (Flexion contracture of the hallux)\n", + " \n", + " \n", + " One or more bent (flexed) joints of the first (big) toe that cannot be straightened actively or passively.\n", + " definition of HP:0010212 (Flexion contracture of the hallux)\n", + " \n", + " \n", + " #Joint contracture of the big toe #Joint contracture of the hallux\n", + " definition of HP:0010212 (Flexion contracture of the hallux)\n", + " \n", + " \n", + " Patchy palmoplantar hyperkeratosis\n", + " definition of HP:0005588 (Patchy palmoplantar hyperkeratosis)\n", + " \n", + " \n", + " A focal type of palmoplantar keratoderma in which only certain areas of the palms and soles are affected.\n", + " definition of HP:0005588 (Patchy palmoplantar hyperkeratosis)\n", + " \n", + " \n", + " #Palmoplantar keratoderma, patchy #Patchy palmoplantar keratoderma\n", + " definition of HP:0005588 (Patchy palmoplantar hyperkeratosis)\n", + " \n", + " \n", + " Tympanosclerosis\n", + " definition of HP:0020123 (Tympanosclerosis)\n", + " \n", + " \n", + " A stiffening of the tympanic membrane due to calcification, typically presents as white plaque-like lesions, involving discrete regions of the tympanic membrane and/or middle ear.\n", + " definition of HP:0020123 (Tympanosclerosis)\n", + " \n", + " \n", + " #Tympanic calcification\n", + " definition of HP:0020123 (Tympanosclerosis)\n", + " \n", + " \n", + " Colonic stenosis\n", + " definition of HP:0012851 (Colonic stenosis)\n", + " \n", + " \n", + " A narrowing of a segment of colon whereby bowel continuity is maintained.\n", + " definition of HP:0012851 (Colonic stenosis)\n", + " \n", + " \n", + " #Narrowing of the colon #Stenosis of the colon\n", + " definition of HP:0012851 (Colonic stenosis)\n", + " \n", + " \n", + " Lung adenocarcinoma\n", + " definition of HP:0030078 (Lung adenocarcinoma)\n", + " \n", + " \n", + " Decreased serum leptin\n", + " definition of HP:0003292 (Decreased serum leptin)\n", + " \n", + " \n", + " A decreased concentration of leptin in the blood.\n", + " definition of HP:0003292 (Decreased serum leptin)\n", + " \n", + " \n", + " #Decreased serum leptin #Reduced circulating leptin level\n", + " definition of HP:0003292 (Decreased serum leptin)\n", + " \n", + " \n", + " Inferior oblique muscle underaction\n", + " definition of HP:0031741 (Inferior oblique muscle underaction)\n", + " \n", + " \n", + " Reduced ocular movement by the inferior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy.\n", + " definition of HP:0031741 (Inferior oblique muscle underaction)\n", + " \n", + " \n", + " Intestinal lymphoid nodular hyperplasia\n", + " definition of HP:0011956 (Intestinal lymphoid nodular hyperplasia)\n", + " \n", + " \n", + " A lymphoproliferative abnormality of the intestine characterized by numerous visible mucosal nodules measuring up to, and rarely exceeding, 0.5 cm in diameter Histologically, hyperplastic lymphoid follicles with large germinal centers are seen in the lamina propria and superficial submucosa. There is enlargement of the mucosal B cell follicles caused by hyperplasia of the follicle centers; surrounded by a normal appearing mantle zone. Disease may involve the stomach, the entire small intestine, and the large intestine.\n", + " definition of HP:0011956 (Intestinal lymphoid nodular hyperplasia)\n", + " \n", + " \n", + " Lack of interest in peers\n", + " definition of HP:4000083 (Lack of interest in peers)\n", + " \n", + " \n", + " Lack of interest in peers of comparable age and social groups is evident when an individual, such as a child, shows more interest in socializing with adults rather than children their own age.\n", + " definition of HP:4000083 (Lack of interest in peers)\n", + " \n", + " \n", + " #Ignores peers #Reduced desire to interact with peers #Reduced interest in other children\n", + " definition of HP:4000083 (Lack of interest in peers)\n", + " \n", + " \n", + " Abnormal facial shape\n", + " definition of HP:0001999 (Abnormal facial shape)\n", + " \n", + " \n", + " An abnormal morphology (form) of the face or its components.\n", + " definition of HP:0001999 (Abnormal facial shape)\n", + " \n", + " \n", + " #Abnormal facial shape #Abnormal morphology of the face #Distinctive facies #Dysmorphic facial features #Dysmorphic facies #Facial dysmorphism #Unusual facial appearance #Unusual facies\n", + " definition of HP:0001999 (Abnormal facial shape)\n", + " \n", + " \n", + " Frontalis muscle overactivity\n", + " definition of HP:0430144 (Frontalis muscle overactivity)\n", + " \n", + " \n", + " Increased activity of the frontalis muscle, causing a characteristic staring and astonished facial expression.\n", + " definition of HP:0430144 (Frontalis muscle overactivity)\n", + " \n", + " \n", + " Femur fracture\n", + " definition of HP:0031846 (Femur fracture)\n", + " \n", + " \n", + " A break or crush injury of the thigh bone (femur).\n", + " definition of HP:0031846 (Femur fracture)\n", + " \n", + " \n", + " #Femoral fracture\n", + " definition of HP:0031846 (Femur fracture)\n", + " \n", + " \n", + " Lateral ventricle dilatation\n", + " definition of HP:0006956 (Lateral ventricle dilatation)\n", + " \n", + " \n", + " #Dilatation of lateral cerebral ventricles #Dilation of lateral ventricles #Enlarged lateral ventricles #Lateral ventricle dilatation\n", + " definition of HP:0006956 (Lateral ventricle dilatation)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the distal phalanx of the 4th finger\n", + " definition of HP:0009289 (Aplasia/Hypoplasia of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " #Absent/small outermost ring finger bone #Absent/underdeveloped outermost ring finger bone\n", + " definition of HP:0009289 (Aplasia/Hypoplasia of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " Screwdriver-shaped incisors\n", + " definition of HP:0006346 (Screwdriver-shaped incisors)\n", + " \n", + " \n", + " An abnormality of morphology of the incisor tooth in which the tooth is shaped like a screwdriver blade, i.e., having a rhomboid shape.\n", + " definition of HP:0006346 (Screwdriver-shaped incisors)\n", + " \n", + " \n", + " #Screwdriver shaped front teeth #Screwdriver-shaped incisors\n", + " definition of HP:0006346 (Screwdriver-shaped incisors)\n", + " \n", + " \n", + " Decreased proportion of central memory CD8-positive, alpha-beta T cells\n", + " definition of HP:0410389 (Decreased proportion of central memory CD8-positive, alpha-beta T cells)\n", + " \n", + " \n", + " A reduced proportion of CD8-positive, alpha-beta central memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.\n", + " definition of HP:0410389 (Decreased proportion of central memory CD8-positive, alpha-beta T cells)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the spleen\n", + " definition of HP:0010451 (Aplasia/Hypoplasia of the spleen)\n", + " \n", + " \n", + " Absence or underdevelopment of the spleen.\n", + " definition of HP:0010451 (Aplasia/Hypoplasia of the spleen)\n", + " \n", + " \n", + " #Absent/small spleen #Absent/underdeveloped spleen\n", + " definition of HP:0010451 (Aplasia/Hypoplasia of the spleen)\n", + " \n", + " \n", + " Focal emotional seizure with paranoia\n", + " definition of HP:0032737 (Focal emotional seizure with paranoia)\n", + " \n", + " \n", + " Focal emotional seizure with paranoia is characterized by the presence of paranoia as an expressed or observed emotion at the outset of the seizure.\n", + " definition of HP:0032737 (Focal emotional seizure with paranoia)\n", + " \n", + " \n", + " Strong ultraviolet light exposure\n", + " definition of HP:6001092 (Strong ultraviolet light exposure)\n", + " \n", + " \n", + " History of exposure to ultraviolet light, such as may be encountered with outdoor activities, living near equator, radiation.\n", + " definition of HP:6001092 (Strong ultraviolet light exposure)\n", + " \n", + " \n", + " Multifocal neonatal sequential seizure\n", + " definition of HP:0032827 (Multifocal neonatal sequential seizure)\n", + " \n", + " \n", + " Multifocal neonatal electro-clinical sequential motor seizure is a type of neonatal electro-clinical seizure where the predominant feature cannot be detected because of seizures presenting with a variety of clinical and electrographic multifocal signs.\n", + " definition of HP:0032827 (Multifocal neonatal sequential seizure)\n", + " \n", + " \n", + " All\n", + " definition of HP:0000001 (All)\n", + " \n", + " \n", + " Broad radial metaphysis\n", + " definition of HP:0004026 (Broad radial metaphysis)\n", + " \n", + " \n", + " Increase in width (breadth) of the radial metaphysis.\n", + " definition of HP:0004026 (Broad radial metaphysis)\n", + " \n", + " \n", + " #Wide radial metaphysis\n", + " definition of HP:0004026 (Broad radial metaphysis)\n", + " \n", + " \n", + " Occupational silver exposure\n", + " definition of HP:0035011 (Occupational silver exposure)\n", + " \n", + " \n", + " A history of exposure to silver that has occurred in relation to performance of job duties.\n", + " definition of HP:0035011 (Occupational silver exposure)\n", + " \n", + " \n", + " Chronic decreased circulating IgG4\n", + " definition of HP:0041058 (Chronic decreased circulating IgG4)\n", + " \n", + " \n", + " A lasting decrease of immunoglobulin G4 (IgG4) in the blood.\n", + " definition of HP:0041058 (Chronic decreased circulating IgG4)\n", + " \n", + " \n", + " #Chronic decreased IgG4 in blood\n", + " definition of HP:0041058 (Chronic decreased circulating IgG4)\n", + " \n", + " \n", + " Abnormal pyramidal sign\n", + " definition of HP:0007256 (Abnormal pyramidal sign)\n", + " \n", + " \n", + " Functional neurological abnormalities related to dysfunction of the pyramidal tract.\n", + " definition of HP:0007256 (Abnormal pyramidal sign)\n", + " \n", + " \n", + " #Corticospinal signs #Pyramidal signs #Pyramidal tract signs\n", + " definition of HP:0007256 (Abnormal pyramidal sign)\n", + " \n", + " \n", + " Triangular epiphysis of the middle phalanx of the 5th toe\n", + " definition of HP:0100223 (Triangular epiphysis of the middle phalanx of the 5th toe)\n", + " \n", + " \n", + " #Triangular end part of the middle bone of the little toe #Triangular end part of the middle bone of the pinkie toe #Triangular end part of the middle bone of the pinky toe\n", + " definition of HP:0100223 (Triangular epiphysis of the middle phalanx of the 5th toe)\n", + " \n", + " \n", + " Telogen effluvium\n", + " definition of HP:0025470 (Telogen effluvium)\n", + " \n", + " \n", + " A type of hair loss characterized by an abnormal increase in dormant, telogen stage hair follicles.\n", + " definition of HP:0025470 (Telogen effluvium)\n", + " \n", + " \n", + " Abnormal glycosidase enzyme activity\n", + " definition of HP:0003649 (Abnormal glycosidase enzyme activity)\n", + " \n", + " \n", + " Abnormality of glycosidase enzyme activity. Glycoside hydrolases (GHs), including glycosidases and transglycosidases. These enzymes constitute 113 protein families that are responsible for the hydrolysis and/or transglycosylation of glycosidic bonds.\n", + " definition of HP:0003649 (Abnormal glycosidase enzyme activity)\n", + " \n", + " \n", + " #Abnormality of glycoside metabolism\n", + " definition of HP:0003649 (Abnormal glycosidase enzyme activity)\n", + " \n", + " \n", + " Aplasia/hypoplasia affecting bones of the axial skeleton\n", + " definition of HP:0009122 (Aplasia/hypoplasia affecting bones of the axial skeleton)\n", + " \n", + " \n", + " Absence (due to failure to form) or underdevelopment of bones of the axial skeleton.\n", + " definition of HP:0009122 (Aplasia/hypoplasia affecting bones of the axial skeleton)\n", + " \n", + " \n", + " Abnormal 2nd metacarpal morphology\n", + " definition of HP:0010010 (Abnormal 2nd metacarpal morphology)\n", + " \n", + " \n", + " Any abnormality of the second metacarpal bone.\n", + " definition of HP:0010010 (Abnormal 2nd metacarpal morphology)\n", + " \n", + " \n", + " #Abnormality of the 2nd long bone of hand #Abnormality of the 2nd metacarpal\n", + " definition of HP:0010010 (Abnormal 2nd metacarpal morphology)\n", + " \n", + " \n", + " Tongue thrusting\n", + " definition of HP:0100703 (Tongue thrusting)\n", + " \n", + " \n", + " Pressing forward of the tongue in the mouth, a retained motoric habit from infantile swallowing patterns\n", + " definition of HP:0100703 (Tongue thrusting)\n", + " \n", + " \n", + " Increased anti-seafood IgE antibody level\n", + " definition of HP:0410222 (Increased anti-seafood IgE antibody level)\n", + " \n", + " \n", + " Increased level of IgE antibody against seafood, including fish, shrimp, lobster, crab, squid and abalone.\n", + " definition of HP:0410222 (Increased anti-seafood IgE antibody level)\n", + " \n", + " \n", + " #Increased level of anti-seafood IgE antibody\n", + " definition of HP:0410222 (Increased anti-seafood IgE antibody level)\n", + " \n", + " \n", + " Glomerular basement membrane lamellation\n", + " definition of HP:0030034 (Glomerular basement membrane lamellation)\n", + " \n", + " \n", + " Presence of abnormal additional layers of the basement membrane of the glomerulus.\n", + " definition of HP:0030034 (Glomerular basement membrane lamellation)\n", + " \n", + " \n", + " #Lamellated/basket-woven thickened glomerular basement membranes #Lamellation of the glomerular basement membrane\n", + " definition of HP:0030034 (Glomerular basement membrane lamellation)\n", + " \n", + " \n", + " Chronic gastritis\n", + " definition of HP:0005231 (Chronic gastritis)\n", + " \n", + " \n", + " A chronic form of gastritis.\n", + " definition of HP:0005231 (Chronic gastritis)\n", + " \n", + " \n", + " Fibrin casts\n", + " definition of HP:0025697 (Fibrin casts)\n", + " \n", + " \n", + " A type of airway casts that consist of plasma components and inflammatory cells.\n", + " definition of HP:0025697 (Fibrin casts)\n", + " \n", + " \n", + " #Cellular airway casts #Diphtheroid membranes #Pseudomembranes #Type I airway casts\n", + " definition of HP:0025697 (Fibrin casts)\n", + " \n", + " \n", + " Positive fecal Clostridium botulinum test\n", + " definition of HP:0034476 (Positive fecal Clostridium botulinum test)\n", + " \n", + " \n", + " Identification of Clostridium botulinum toxin in the feces.\n", + " definition of HP:0034476 (Positive fecal Clostridium botulinum test)\n", + " \n", + " \n", + " #Clostridium botulinum toxin in stool\n", + " definition of HP:0034476 (Positive fecal Clostridium botulinum test)\n", + " \n", + " \n", + " Submucous cleft of soft and hard palate\n", + " definition of HP:0410031 (Submucous cleft of soft and hard palate)\n", + " \n", + " \n", + " Soft and hard-palate submucous clefts are characterized by bony defects in the midline of the soft and hard palate that are covered by the lining (ie mucous membrane) of the roof of the mouth.\n", + " definition of HP:0410031 (Submucous cleft of soft and hard palate)\n", + " \n", + " \n", + " Decreased specific anti-polysaccharide antibody level\n", + " definition of HP:0002848 (Decreased specific anti-polysaccharide antibody level)\n", + " \n", + " \n", + " The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against bacterial polysaccharides.\n", + " definition of HP:0002848 (Decreased specific anti-polysaccharide antibody level)\n", + " \n", + " \n", + " #Depressed antibody response to polysaccharide antigens #Low specific anti-polysaccharide antibody titer #Specific anti-polysaccharide antibody deficiency\n", + " definition of HP:0002848 (Decreased specific anti-polysaccharide antibody level)\n", + " \n", + " \n", + " Optic neuritis\n", + " definition of HP:0100653 (Optic neuritis)\n", + " \n", + " \n", + " Inflammation of the optic nerve.\n", + " definition of HP:0100653 (Optic neuritis)\n", + " \n", + " \n", + " Meckel diverticulum\n", + " definition of HP:0002245 (Meckel diverticulum)\n", + " \n", + " \n", + " Meckel's diverticulum is a congenital diverticulum located in the distal ileum.\n", + " definition of HP:0002245 (Meckel diverticulum)\n", + " \n", + " \n", + " Elevated urine bismuth level\n", + " definition of HP:6000888 (Elevated urine bismuth level)\n", + " \n", + " \n", + " Detection of a level of bismuth in the urine high enough to raise the suspicion of bismuth toxicity, usually greater than 20microgram per deciliter.\n", + " definition of HP:6000888 (Elevated urine bismuth level)\n", + " \n", + " \n", + " Triceps weakness\n", + " definition of HP:0031108 (Triceps weakness)\n", + " \n", + " \n", + " A lack of strength in the triceps muscle, which normally is responsible for extending (straightening) the elbow and mediating certain shoulder movements.\n", + " definition of HP:0031108 (Triceps weakness)\n", + " \n", + " \n", + " Inappropriately low urine osmolality following challenge\n", + " definition of HP:6001079 (Inappropriately low urine osmolality following challenge)\n", + " \n", + " \n", + " In diabetes insipidus, affected individuals produce large quantities of dilute urine. In nephrogenic DI, the kidneys do not respond to vasopressin. In a water deprivation test or with administration of exogenous vasopressin, the osmolaltiy of the urine does not increase as normally.\n", + " definition of HP:6001079 (Inappropriately low urine osmolality following challenge)\n", + " \n", + " \n", + " Clostridium difficile colitis\n", + " definition of HP:0032168 (Clostridium difficile colitis)\n", + " \n", + " \n", + " An infection of the colon (colitis) by clostridium difficile.\n", + " definition of HP:0032168 (Clostridium difficile colitis)\n", + " \n", + " \n", + " Leukocyte cylindruria\n", + " definition of HP:0012616 (Leukocyte cylindruria)\n", + " \n", + " \n", + " Presence of leukocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine.\n", + " definition of HP:0012616 (Leukocyte cylindruria)\n", + " \n", + " \n", + " #White blood cell casts\n", + " definition of HP:0012616 (Leukocyte cylindruria)\n", + " \n", + " \n", + " Hippocampal atrophy\n", + " definition of HP:0410170 (Hippocampal atrophy)\n", + " \n", + " \n", + " Partial or complete wasting (loss) of hippocampus tissue that was once present.\n", + " definition of HP:0410170 (Hippocampal atrophy)\n", + " \n", + " \n", + " #Atrophy of the hippocampus #Degeneration of the hippocampus\n", + " definition of HP:0410170 (Hippocampal atrophy)\n", + " \n", + " \n", + " Patchy sclerosis of 2nd finger phalanx\n", + " definition of HP:0009551 (Patchy sclerosis of 2nd finger phalanx)\n", + " \n", + " \n", + " Uneven (irregular) increase in bone density of one or more of the phalanges of the 2nd finger.\n", + " definition of HP:0009551 (Patchy sclerosis of 2nd finger phalanx)\n", + " \n", + " \n", + " #Patchy sclerosis of the phalanges of the 2nd finger #Uneven increase in bone density in index finger bone\n", + " definition of HP:0009551 (Patchy sclerosis of 2nd finger phalanx)\n", + " \n", + " \n", + " Trichodiscoma\n", + " definition of HP:0032228 (Trichodiscoma)\n", + " \n", + " \n", + " A small benign fibrovascular tumor of the dermal part of the hair disk. Trichodiscoma is rather simple in appearance and consists of a dome-shaped fibrous tumor with a prominent vascular component that fills the papillary dermis under an atrophic epidermis. As in a normal hair disk, a hair follicle may be present at one edge of the papular lesion.\n", + " definition of HP:0032228 (Trichodiscoma)\n", + " \n", + " \n", + " Breast adenoma\n", + " definition of HP:6000894 (Breast adenoma)\n", + " \n", + " \n", + " A benign, well circumscribed neoplasm that arises from the breast.\n", + " definition of HP:6000894 (Breast adenoma)\n", + " \n", + " \n", + " Amplification of social interactions\n", + " definition of HP:5200212 (Amplification of social interactions)\n", + " \n", + " \n", + " A increase in the tendency of a person to seek or maintain social connections or interactions with others compared to previous norms for an individual.\n", + " definition of HP:5200212 (Amplification of social interactions)\n", + " \n", + " \n", + " #Amplified socialising #Amplified socializing #Increase in social interactions\n", + " definition of HP:5200212 (Amplification of social interactions)\n", + " \n", + " \n", + " Bone marrow arrest at the promyelocytic stage\n", + " definition of HP:0033607 (Bone marrow arrest at the promyelocytic stage)\n", + " \n", + " \n", + " A type of bone marrow maturation arrest characterized by accumulation of neutrophil precursor cells in the bone marrow.\n", + " definition of HP:0033607 (Bone marrow arrest at the promyelocytic stage)\n", + " \n", + " \n", + " Delayed puberty\n", + " definition of HP:0000823 (Delayed puberty)\n", + " \n", + " \n", + " Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.\n", + " definition of HP:0000823 (Delayed puberty)\n", + " \n", + " \n", + " #Delayed pubertal development #Delayed pubertal growth #Delayed puberty #Pubertal delay\n", + " definition of HP:0000823 (Delayed puberty)\n", + " \n", + " \n", + " Aplasia of the optic tract\n", + " definition of HP:0010999 (Aplasia of the optic tract)\n", + " \n", + " \n", + " #Absent optic tract\n", + " definition of HP:0010999 (Aplasia of the optic tract)\n", + " \n", + " \n", + " Cleft ala nasi\n", + " definition of HP:0003191 (Cleft ala nasi)\n", + " \n", + " \n", + " The presence of a notch in the margin of the ala nasi.\n", + " definition of HP:0003191 (Cleft ala nasi)\n", + " \n", + " \n", + " #Ala nasi, cleft #Alar clefts #Cleft nasal alae #Cleft nostril #Notched nasal alae\n", + " definition of HP:0003191 (Cleft ala nasi)\n", + " \n", + " \n", + " Palmar hyperkeratosis\n", + " definition of HP:0010765 (Palmar hyperkeratosis)\n", + " \n", + " \n", + " Abnormal thickening of the skin localized to the palm of the hand.\n", + " definition of HP:0010765 (Palmar hyperkeratosis)\n", + " \n", + " \n", + " Symphalangism affecting the proximal phalanges of the toes\n", + " definition of HP:0010209 (Symphalangism affecting the proximal phalanges of the toes)\n", + " \n", + " \n", + " #Fused innermost bones of toes\n", + " definition of HP:0010209 (Symphalangism affecting the proximal phalanges of the toes)\n", + " \n", + " \n", + " Aorto-left ventricular tunnel\n", + " definition of HP:0031932 (Aorto-left ventricular tunnel)\n", + " \n", + " \n", + " Aorto-left ventricular tunnel (ALVT) is a congenital extracardiac channel connecting the ascending aorta above the sino-tubular junction to either left or right ventricular cavity.\n", + " definition of HP:0031932 (Aorto-left ventricular tunnel)\n", + " \n", + " \n", + " #Left ventricle to aorta tunnel\n", + " definition of HP:0031932 (Aorto-left ventricular tunnel)\n", + " \n", + " \n", + " Bracket epiphysis of the distal phalanx of the 3rd toe\n", + " definition of HP:0100136 (Bracket epiphysis of the distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Bracket shaped end part of the outermost bone of the 3rd toe\n", + " definition of HP:0100136 (Bracket epiphysis of the distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Subjective eidetic images\n", + " definition of HP:5200211 (Subjective eidetic images)\n", + " \n", + " \n", + " A mental phenomenon is when an individual can vividly visualize or recall visual information from memory with exceptional detail and accuracy. These images are experienced subjectively by the individual, meaning they are not physically present or visible to others.\n", + " definition of HP:5200211 (Subjective eidetic images)\n", + " \n", + " \n", + " #Photographic memory\n", + " definition of HP:5200211 (Subjective eidetic images)\n", + " \n", + " \n", + " Penoscrotal hypospadias\n", + " definition of HP:0000808 (Penoscrotal hypospadias)\n", + " \n", + " \n", + " A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum.\n", + " definition of HP:0000808 (Penoscrotal hypospadias)\n", + " \n", + " \n", + " External genital hypoplasia\n", + " definition of HP:0003241 (External genital hypoplasia)\n", + " \n", + " \n", + " Underdevelopment of part or all of the external reproductive organs.\n", + " definition of HP:0003241 (External genital hypoplasia)\n", + " \n", + " \n", + " #Hypogenitalism #Small genitalia #Underdevelopment of external reproductive organs\n", + " definition of HP:0003241 (External genital hypoplasia)\n", + " \n", + " \n", + " Abnormal mucociliary clearance\n", + " definition of HP:0031602 (Abnormal mucociliary clearance)\n", + " \n", + " \n", + " An anomaly in the system of mucociliary transport, which functions to transport the mucous layer lining the respiratory epithelium by ciliary beating.\n", + " definition of HP:0031602 (Abnormal mucociliary clearance)\n", + " \n", + " \n", + " #Abnormal mucociliary transport\n", + " definition of HP:0031602 (Abnormal mucociliary clearance)\n", + " \n", + " \n", + " T-cell acute lymphoblastic leukemias\n", + " definition of HP:0006727 (T-cell acute lymphoblastic leukemias)\n", + " \n", + " \n", + " Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females.\n", + " definition of HP:0006727 (T-cell acute lymphoblastic leukemias)\n", + " \n", + " \n", + " Positive microfilaria PCR test in the blood circulation\n", + " definition of HP:0430068 (Positive microfilaria PCR test in the blood circulation)\n", + " \n", + " \n", + " Detection of nucleic acid of a microfilarial parasite in the blood circulation.\n", + " definition of HP:0430068 (Positive microfilaria PCR test in the blood circulation)\n", + " \n", + " \n", + " Positive CSF cryptococcal antigen test\n", + " definition of HP:6000761 (Positive CSF cryptococcal antigen test)\n", + " \n", + " \n", + " A test result demonstrating the presence of a cryptococal antigen in the cerebrospinal fluid (CSF).\n", + " definition of HP:6000761 (Positive CSF cryptococcal antigen test)\n", + " \n", + " \n", + " Irregular patellae\n", + " definition of HP:0006369 (Irregular patellae)\n", + " \n", + " \n", + " An alteration of the normally relatively smooth margins of the kneecap in radiographic images leading to an irregular contour.\n", + " definition of HP:0006369 (Irregular patellae)\n", + " \n", + " \n", + " #Irregular patellar contour #Irregular patellar margins\n", + " definition of HP:0006369 (Irregular patellae)\n", + " \n", + " \n", + " Scapuloperoneal myopathy\n", + " definition of HP:0009054 (Scapuloperoneal myopathy)\n", + " \n", + " \n", + " Pancreatic fistula\n", + " definition of HP:0100844 (Pancreatic fistula)\n", + " \n", + " \n", + " Decreased acid sphingomyelinase activity\n", + " definition of HP:0034300 (Decreased acid sphingomyelinase activity)\n", + " \n", + " \n", + " Reduced activity of the enzyme acid sphingomyelinase activity in the blood circulation.\n", + " definition of HP:0034300 (Decreased acid sphingomyelinase activity)\n", + " \n", + " \n", + " Axial muscle atrophy\n", + " definition of HP:0040287 (Axial muscle atrophy)\n", + " \n", + " \n", + " Lateral rectus muscle overaction\n", + " definition of HP:0031752 (Lateral rectus muscle overaction)\n", + " \n", + " \n", + " Excessive action of the lateral rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist.\n", + " definition of HP:0031752 (Lateral rectus muscle overaction)\n", + " \n", + " \n", + " Glomerular capillary wire loop deposits\n", + " definition of HP:0033604 (Glomerular capillary wire loop deposits)\n", + " \n", + " \n", + " Glomerulus showing markedly and irregularly thickened capillary walls with massive fuchsinophilic subendothelial deposits, resulting in narrowing of capillary lumina. This feature is said to resemble a wire loop.\n", + " definition of HP:0033604 (Glomerular capillary wire loop deposits)\n", + " \n", + " \n", + " Poor head control\n", + " definition of HP:0002421 (Poor head control)\n", + " \n", + " \n", + " Difficulty to maintain correct position of the head while standing or sitting. Infant head lag is observed when the head seems to flop around or lags posteriorly behind the trunk. Several articles have maintained that head lag should be absent by age 3 to 4 months.\n", + " definition of HP:0002421 (Poor head control)\n", + " \n", + " \n", + " #Delay in head control #Delay in head righting #Infant head lag #Poor head control\n", + " definition of HP:0002421 (Poor head control)\n", + " \n", + " \n", + " Hemoperitoneum\n", + " definition of HP:0011854 (Hemoperitoneum)\n", + " \n", + " \n", + " Accumulation of blood in the peritoneal cavity owing to internal hemorrhage.\n", + " definition of HP:0011854 (Hemoperitoneum)\n", + " \n", + " \n", + " Neonatal insulin-dependent diabetes mellitus\n", + " definition of HP:0000857 (Neonatal insulin-dependent diabetes mellitus)\n", + " \n", + " \n", + " Metaphyseal rarefaction\n", + " definition of HP:0004980 (Metaphyseal rarefaction)\n", + " \n", + " \n", + " Reduction in density of metaphyseal bony tissue.\n", + " definition of HP:0004980 (Metaphyseal rarefaction)\n", + " \n", + " \n", + " #Rarefaction of the metaphyses\n", + " definition of HP:0004980 (Metaphyseal rarefaction)\n", + " \n", + " \n", + " Anterior scalloping of vertebral bodies\n", + " definition of HP:0004580 (Anterior scalloping of vertebral bodies)\n", + " \n", + " \n", + " An excessive concavity of the anterior surface of one or more vertebral bodies.\n", + " definition of HP:0004580 (Anterior scalloping of vertebral bodies)\n", + " \n", + " \n", + " Red hair\n", + " definition of HP:0002297 (Red hair)\n", + " \n", + " \n", + " #Red hair #Red hair color #Red hair colour #Red head (hair color)\n", + " definition of HP:0002297 (Red hair)\n", + " \n", + " \n", + " Glossitis\n", + " definition of HP:0000206 (Glossitis)\n", + " \n", + " \n", + " Inflammation of the tongue.\n", + " definition of HP:0000206 (Glossitis)\n", + " \n", + " \n", + " #Inflammation of the tongue #Lingual inflammation #Smooth swollen tongue\n", + " definition of HP:0000206 (Glossitis)\n", + " \n", + " \n", + " Abnormal external genitalia\n", + " definition of HP:0000811 (Abnormal external genitalia)\n", + " \n", + " \n", + " #Abnormal external genitalia\n", + " definition of HP:0000811 (Abnormal external genitalia)\n", + " \n", + " \n", + " Athetoid cerebral palsy\n", + " definition of HP:0011445 (Athetoid cerebral palsy)\n", + " \n", + " \n", + " A type of cerebral palsy characterized by slow, involuntary muscle movement and mixed muscle tone.\n", + " definition of HP:0011445 (Athetoid cerebral palsy)\n", + " \n", + " \n", + " Inferior rectus muscle underaction\n", + " definition of HP:0031742 (Inferior rectus muscle underaction)\n", + " \n", + " \n", + " Reduced movement by the inferior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.\n", + " definition of HP:0031742 (Inferior rectus muscle underaction)\n", + " \n", + " \n", + " Subperiosteal bone formation\n", + " definition of HP:0031485 (Subperiosteal bone formation)\n", + " \n", + " \n", + " The formation of new bone along the cortex and underneath the periosteum of a bone.\n", + " definition of HP:0031485 (Subperiosteal bone formation)\n", + " \n", + " \n", + " #Periosteal reaction\n", + " definition of HP:0031485 (Subperiosteal bone formation)\n", + " \n", + " \n", + " Increased CSF protein concentration\n", + " definition of HP:0002922 (Increased CSF protein concentration)\n", + " \n", + " \n", + " Increased concentration of protein in the cerebrospinal fluid.\n", + " definition of HP:0002922 (Increased CSF protein concentration)\n", + " \n", + " \n", + " #Cerebrospinal fluid protein increased #Cerebrospinal fluid with increased protein #Elevated cerebrospinal fluid protein #Elevated csf protein #Hyperproteinorrhachia #Increased CSF protein #Increased protein in csf #Spinal fluid protein elevated\n", + " definition of HP:0002922 (Increased CSF protein concentration)\n", + " \n", + " \n", + " Thickened superior cerebellar peduncle\n", + " definition of HP:0002404 (Thickened superior cerebellar peduncle)\n", + " \n", + " \n", + " Increased width of the superior cerebellar peduncle.\n", + " definition of HP:0002404 (Thickened superior cerebellar peduncle)\n", + " \n", + " \n", + " #Thick cerebellar peduncles\n", + " definition of HP:0002404 (Thickened superior cerebellar peduncle)\n", + " \n", + " \n", + " Increased CSF valine concentration\n", + " definition of HP:0500187 (Increased CSF valine concentration)\n", + " \n", + " \n", + " Any increased amount from normal of valine in the cerebrospinal fluid.\n", + " definition of HP:0500187 (Increased CSF valine concentration)\n", + " \n", + " \n", + " #High valine levels in cerebrospinal fluid\n", + " definition of HP:0500187 (Increased CSF valine concentration)\n", + " \n", + " \n", + " Agonadism\n", + " definition of HP:0008633 (Agonadism)\n", + " \n", + " \n", + " Absence of sex glands (gonads are the organs that produce gametes; testis in males and ovary in females).\n", + " definition of HP:0008633 (Agonadism)\n", + " \n", + " \n", + " #Absent gonadal tissue #Gonadal agenesis\n", + " definition of HP:0008633 (Agonadism)\n", + " \n", + " \n", + " Mesial parasagittal subcortical heterotopia\n", + " definition of HP:0032394 (Mesial parasagittal subcortical heterotopia)\n", + " \n", + " \n", + " Subcortical heterotopia extending along the mesial aspect of the lateral ventricles, with direct connection to mesial polymicrogyria-like cortex at the anterior and posterior limits of the heterotopia.\n", + " definition of HP:0032394 (Mesial parasagittal subcortical heterotopia)\n", + " \n", + " \n", + " Broad distal phalanx of the 5th finger\n", + " definition of HP:0009240 (Broad distal phalanx of the 5th finger)\n", + " \n", + " \n", + " Increased width of the distal phalanx of the 5th finger.\n", + " definition of HP:0009240 (Broad distal phalanx of the 5th finger)\n", + " \n", + " \n", + " #Broad outermost little finger bone #Broad outermost pinkie finger bone #Broad outermost pinky finger bone #Wide outermost pinky finger bone\n", + " definition of HP:0009240 (Broad distal phalanx of the 5th finger)\n", + " \n", + " \n", + " Extreme oligozoospermia\n", + " definition of HP:0034815 (Extreme oligozoospermia)\n", + " \n", + " \n", + " A type of oligozoospermia characterized by a total number of more than zero but less than 2 million sperm in the ejaculate or a concentration of more than zero but less than one million sperm per milliliter.\n", + " definition of HP:0034815 (Extreme oligozoospermia)\n", + " \n", + " \n", + " Aplasia/hypoplasia involving bones of the lower limbs\n", + " definition of HP:0006493 (Aplasia/hypoplasia involving bones of the lower limbs)\n", + " \n", + " \n", + " Absence (due to failure to form) or underdevelopment of the bones of the lower limbs.\n", + " definition of HP:0006493 (Aplasia/hypoplasia involving bones of the lower limbs)\n", + " \n", + " \n", + " #Absent/small lower limb bones #Absent/underdeveloped lower limb bones\n", + " definition of HP:0006493 (Aplasia/hypoplasia involving bones of the lower limbs)\n", + " \n", + " \n", + " Degeneration of the lateral corticospinal tracts\n", + " definition of HP:0002314 (Degeneration of the lateral corticospinal tracts)\n", + " \n", + " \n", + " Deterioration of the tissues of the lateral corticospinal tracts.\n", + " definition of HP:0002314 (Degeneration of the lateral corticospinal tracts)\n", + " \n", + " \n", + " #Degeneration of lateral corticospinal tracts\n", + " definition of HP:0002314 (Degeneration of the lateral corticospinal tracts)\n", + " \n", + " \n", + " Abnormal epiphysis morphology of the phalanges of the hand\n", + " definition of HP:0005920 (Abnormal epiphysis morphology of the phalanges of the hand)\n", + " \n", + " \n", + " Abnormality of one or all of the epiphyses of the phalanges of the hand. Note that this includes the epiphysis of the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits).\n", + " definition of HP:0005920 (Abnormal epiphysis morphology of the phalanges of the hand)\n", + " \n", + " \n", + " Normocytic anemia\n", + " definition of HP:0001897 (Normocytic anemia)\n", + " \n", + " \n", + " A kind of anemia in which the volume of the red blood cells is normal.\n", + " definition of HP:0001897 (Normocytic anemia)\n", + " \n", + " \n", + " #Normocytic anaemia\n", + " definition of HP:0001897 (Normocytic anemia)\n", + " \n", + " \n", + " Absent epiphysis of the middle phalanx of the 5th finger\n", + " definition of HP:0009203 (Absent epiphysis of the middle phalanx of the 5th finger)\n", + " \n", + " \n", + " Absence of the epiphysis located at the proximal end of the middle phalanx of the 5th finger.\n", + " definition of HP:0009203 (Absent epiphysis of the middle phalanx of the 5th finger)\n", + " \n", + " \n", + " #Absent end part of the middle bone of the little finger #Absent end part of the middle bone of the pinkie finger #Absent end part of the middle bone of the pinky finger\n", + " definition of HP:0009203 (Absent epiphysis of the middle phalanx of the 5th finger)\n", + " \n", + " \n", + " Neonatal inspiratory stridor\n", + " definition of HP:0004875 (Neonatal inspiratory stridor)\n", + " \n", + " \n", + " Increased anti-insect IgE antibody level\n", + " definition of HP:0410235 (Increased anti-insect IgE antibody level)\n", + " \n", + " \n", + " Increased level of IgE antibody against antigens from insects such as moths, mosquitos, or cockroaches.\n", + " definition of HP:0410235 (Increased anti-insect IgE antibody level)\n", + " \n", + " \n", + " Ventricular septal defect\n", + " definition of HP:0001629 (Ventricular septal defect)\n", + " \n", + " \n", + " A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.\n", + " definition of HP:0001629 (Ventricular septal defect)\n", + " \n", + " \n", + " #Hole in heart wall separating two lower heart chambers #Ventricular septal defects #Ventriculoseptal defect #VSD\n", + " definition of HP:0001629 (Ventricular septal defect)\n", + " \n", + " \n", + " Decreased pituitary glycoprotein hormone alpha subunit level\n", + " definition of HP:0032482 (Decreased pituitary glycoprotein hormone alpha subunit level)\n", + " \n", + " \n", + " An reduced concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081).\n", + " definition of HP:0032482 (Decreased pituitary glycoprotein hormone alpha subunit level)\n", + " \n", + " \n", + " #Decreased pituitary glycoprotein alpha subunit level #Decreased pituitary glycoprotein polypeptide alpha subunit level\n", + " definition of HP:0032482 (Decreased pituitary glycoprotein hormone alpha subunit level)\n", + " \n", + " \n", + " Aggravated by exposure to medication\n", + " definition of HP:4000176 (Aggravated by exposure to medication)\n", + " \n", + " \n", + " Applied to a sign or symptom that is worsened by treatment with a medication.\n", + " definition of HP:4000176 (Aggravated by exposure to medication)\n", + " \n", + " \n", + " Panacinar emphysema\n", + " definition of HP:0032967 (Panacinar emphysema)\n", + " \n", + " \n", + " Panacinar emphysema involves all portions of the acinus and secondary pulmonary lobule more or less uniformly. It predominates in the lower lobes and is the form of emphysema associated with1-antitrypsin deficiency. CT scans show a generalized decrease of the lung parenchyma with a decrease in the caliber of blood vessels in the affected lung. Severe panacinar emphysema may coexist and merge with severe centrilobular emphysema. The appearance of feature less decreased attenuation may be indistinguishable from severe constrictive obliterative bronchiolitis.\n", + " definition of HP:0032967 (Panacinar emphysema)\n", + " \n", + " \n", + " Bladder exstrophy\n", + " definition of HP:0002836 (Bladder exstrophy)\n", + " \n", + " \n", + " Eversion of the posterior bladder wall through the congenitally absent lower anterior abdominal wall and anterior bladder wall.\n", + " definition of HP:0002836 (Bladder exstrophy)\n", + " \n", + " \n", + " #Ectopia vesicae\n", + " definition of HP:0002836 (Bladder exstrophy)\n", + " \n", + " \n", + " Total anomalous pulmonary venous return\n", + " definition of HP:0005160 (Total anomalous pulmonary venous return)\n", + " \n", + " \n", + " Total anomalous pulmonary venous return refers to a congenital malformation in which all four pulmonary veins do not connect normally to the left atrium, but instead drain abnormally to the right atrium.\n", + " definition of HP:0005160 (Total anomalous pulmonary venous return)\n", + " \n", + " \n", + " #Total anomalous pulmonary venous connection #Total anomalous pulmonary venous drainage\n", + " definition of HP:0005160 (Total anomalous pulmonary venous return)\n", + " \n", + " \n", + " Muscle vacuoles\n", + " definition of HP:6000977 (Muscle vacuoles)\n", + " \n", + " \n", + " Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions.\n", + " definition of HP:6000977 (Muscle vacuoles)\n", + " \n", + " \n", + " Anti-dachshund family transcription factor 1 antibody positivity\n", + " definition of HP:6000877 (Anti-dachshund family transcription factor 1 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies in the serum that react against dachshund-homolog 1 (DACH1) autoantigen.\n", + " definition of HP:6000877 (Anti-dachshund family transcription factor 1 antibody positivity)\n", + " \n", + " \n", + " #Anti-neuronal nuclear antibody-type 3 positivity\n", + " definition of HP:6000877 (Anti-dachshund family transcription factor 1 antibody positivity)\n", + " \n", + " \n", + " Triangular epiphysis of the proximal phalanx of the 4th toe\n", + " definition of HP:0100201 (Triangular epiphysis of the proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " #Triangular end part of the innermost bone of the 4th toe\n", + " definition of HP:0100201 (Triangular epiphysis of the proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " Pain\n", + " definition of HP:0012531 (Pain)\n", + " \n", + " \n", + " An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.\n", + " definition of HP:0012531 (Pain)\n", + " \n", + " \n", + " #Pain\n", + " definition of HP:0012531 (Pain)\n", + " \n", + " \n", + " Ureteral hamartoma\n", + " definition of HP:0034843 (Ureteral hamartoma)\n", + " \n", + " \n", + " A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the ureter.\n", + " definition of HP:0034843 (Ureteral hamartoma)\n", + " \n", + " \n", + " Soft skin\n", + " definition of HP:0000977 (Soft skin)\n", + " \n", + " \n", + " Subjective impression of increased softness upon palpation of the skin.\n", + " definition of HP:0000977 (Soft skin)\n", + " \n", + " \n", + " #Soft skin\n", + " definition of HP:0000977 (Soft skin)\n", + " \n", + " \n", + " Gastrointestinal arteriovenous malformation\n", + " definition of HP:0002629 (Gastrointestinal arteriovenous malformation)\n", + " \n", + " \n", + " An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the gastrointestinal tract.\n", + " definition of HP:0002629 (Gastrointestinal arteriovenous malformation)\n", + " \n", + " \n", + " #GI arteriovenous malformation\n", + " definition of HP:0002629 (Gastrointestinal arteriovenous malformation)\n", + " \n", + " \n", + " Aplasia/hypoplasia involving bones of the hand\n", + " definition of HP:0005927 (Aplasia/hypoplasia involving bones of the hand)\n", + " \n", + " \n", + " Absence (due to failure to form) or underdevelopment of the bones of the hand.\n", + " definition of HP:0005927 (Aplasia/hypoplasia involving bones of the hand)\n", + " \n", + " \n", + " #Absent/small hand bones #Absent/underdeveloped hand bones #Hypoplasia/absence of hand bones\n", + " definition of HP:0005927 (Aplasia/hypoplasia involving bones of the hand)\n", + " \n", + " \n", + " Elevated 8(9)-cholestenol\n", + " definition of HP:0003465 (Elevated 8(9)-cholestenol)\n", + " \n", + " \n", + " Progressive macrocephaly\n", + " definition of HP:0004481 (Progressive macrocephaly)\n", + " \n", + " \n", + " The progressive development of an abnormally large skull.\n", + " definition of HP:0004481 (Progressive macrocephaly)\n", + " \n", + " \n", + " #Macrocephaly, progressive #Progressively abnormally enlarging cranium #Progressively abnormally enlarging skull\n", + " definition of HP:0004481 (Progressive macrocephaly)\n", + " \n", + " \n", + " Abnormal blood transition element cation concentration\n", + " definition of HP:0011030 (Abnormal blood transition element cation concentration)\n", + " \n", + " \n", + " An abnormality of the homeostasis (concentration) of transition element cation.\n", + " definition of HP:0011030 (Abnormal blood transition element cation concentration)\n", + " \n", + " \n", + " #Abnormality of transition element cation homeostasis\n", + " definition of HP:0011030 (Abnormal blood transition element cation concentration)\n", + " \n", + " \n", + " Abnormal sternal ossification\n", + " definition of HP:0011863 (Abnormal sternal ossification)\n", + " \n", + " \n", + " Any anomaly in the formation of the bony substance of the sternum.\n", + " definition of HP:0011863 (Abnormal sternal ossification)\n", + " \n", + " \n", + " #Abnormal maturation of breastbone #Sternal ossification center abnormalities #Sternal ossification centre abnormalities\n", + " definition of HP:0011863 (Abnormal sternal ossification)\n", + " \n", + " \n", + " Patchy sclerosis of 4th toe phalanx\n", + " definition of HP:0010376 (Patchy sclerosis of 4th toe phalanx)\n", + " \n", + " \n", + " Patchy (irregular) increase in bone density of one or more of the phalanges of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.\n", + " definition of HP:0010376 (Patchy sclerosis of 4th toe phalanx)\n", + " \n", + " \n", + " #Patchy sclerosis of the phalanges of the 4th toe #Uneven increase in bone density in 4th toe bone\n", + " definition of HP:0010376 (Patchy sclerosis of 4th toe phalanx)\n", + " \n", + " \n", + " Positive gastric fluid barbiturate test\n", + " definition of HP:0410203 (Positive gastric fluid barbiturate test)\n", + " \n", + " \n", + " Detection of barbiturate metabolites such as phenobarbital in the gastric fluid.\n", + " definition of HP:0410203 (Positive gastric fluid barbiturate test)\n", + " \n", + " \n", + " Atrophic, patchy alopecia\n", + " definition of HP:0004529 (Atrophic, patchy alopecia)\n", + " \n", + " \n", + " Reduced circulating 5-oxoprolinase activity\n", + " definition of HP:0040142 (Reduced circulating 5-oxoprolinase activity)\n", + " \n", + " \n", + " Activity or concentration of 5-oxoprolinase in the blood circulation below the lower limit of normal. This enzyme catalyzes the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate.\n", + " definition of HP:0040142 (Reduced circulating 5-oxoprolinase activity)\n", + " \n", + " \n", + " #5-oxoprolinase deficiency #Reduced 5-oxoprolinase level\n", + " definition of HP:0040142 (Reduced circulating 5-oxoprolinase activity)\n", + " \n", + " \n", + " Abnormal cartilage matrix\n", + " definition of HP:0008178 (Abnormal cartilage matrix)\n", + " \n", + " \n", + " Abnormal circulating apolipoprotein concentration\n", + " definition of HP:0025201 (Abnormal circulating apolipoprotein concentration)\n", + " \n", + " \n", + " A deviation from the normal concentration in blood of an apolipoprotein, i.e., of a protein that binds lipids to form lipoprotein and is thereby responsible for the transport of lipids in the blood and lymph circulation.\n", + " definition of HP:0025201 (Abnormal circulating apolipoprotein concentration)\n", + " \n", + " \n", + " #Abnormal apolipoprotein level\n", + " definition of HP:0025201 (Abnormal circulating apolipoprotein concentration)\n", + " \n", + " \n", + " Dysharmonic accelerated bone age\n", + " definition of HP:0200001 (Dysharmonic accelerated bone age)\n", + " \n", + " \n", + " A type of dysharmonic skeletal maturation in which there is an acceleration in skeletal maturation whose degree differs markedly in different bones.\n", + " definition of HP:0200001 (Dysharmonic accelerated bone age)\n", + " \n", + " \n", + " Reduced circulating interleukin 6 concentration\n", + " definition of HP:0430142 (Reduced circulating interleukin 6 concentration)\n", + " \n", + " \n", + " The concentration of interleukin-6 in the blood circulation is below the lower limit of normal.\n", + " definition of HP:0430142 (Reduced circulating interleukin 6 concentration)\n", + " \n", + " \n", + " #IL-6 low in blood\n", + " definition of HP:0430142 (Reduced circulating interleukin 6 concentration)\n", + " \n", + " \n", + " Asymmetric thickening of the nipple-areolar complex\n", + " definition of HP:0040405 (Asymmetric thickening of the nipple-areolar complex)\n", + " \n", + " \n", + " Thickening of the skin around the nipple with a distribution that is not equal on all sides.\n", + " definition of HP:0040405 (Asymmetric thickening of the nipple-areolar complex)\n", + " \n", + " \n", + " Erosion of oral mucosa\n", + " definition of HP:0031446 (Erosion of oral mucosa)\n", + " \n", + " \n", + " Loss of the superficial layer of the oral mucosa usually resulting in a shallow or crusted lesion.\n", + " definition of HP:0031446 (Erosion of oral mucosa)\n", + " \n", + " \n", + " Interlobular vein intima/media multilamellation\n", + " definition of HP:0033974 (Interlobular vein intima/media multilamellation)\n", + " \n", + " \n", + " Myointimal hyperplasia of the inner and middle layer of the interlobular veins of the kidney, arranged in multiple concentric layers.\n", + " definition of HP:0033974 (Interlobular vein intima/media multilamellation)\n", + " \n", + " \n", + " #Interlobular vein intima/media onion skinning #Multilamellation (onion skinning) within interlobular vein intima/media\n", + " definition of HP:0033974 (Interlobular vein intima/media multilamellation)\n", + " \n", + " \n", + " Increased anti-animal dander IgE antibody level\n", + " definition of HP:0410247 (Increased anti-animal dander IgE antibody level)\n", + " \n", + " \n", + " Increased level of IgE antibody against animal dander, tiny scales shed from animal skin or hair, such as from pet dogs or cats.\n", + " definition of HP:0410247 (Increased anti-animal dander IgE antibody level)\n", + " \n", + " \n", + " #Increased level of anti-dander IgE antibody\n", + " definition of HP:0410247 (Increased anti-animal dander IgE antibody level)\n", + " \n", + " \n", + " Triangular epiphyses of the 2nd finger\n", + " definition of HP:0009498 (Triangular epiphyses of the 2nd finger)\n", + " \n", + " \n", + " A triangular appearance of the epiphyses of the 2nd finger of the hand.\n", + " definition of HP:0009498 (Triangular epiphyses of the 2nd finger)\n", + " \n", + " \n", + " #Triangular end part of the index finger\n", + " definition of HP:0009498 (Triangular epiphyses of the 2nd finger)\n", + " \n", + " \n", + " Hypocalcemic seizures\n", + " definition of HP:0002199 (Hypocalcemic seizures)\n", + " \n", + " \n", + " #Low calcium seizures #Seizures due to hypocalcemia\n", + " definition of HP:0002199 (Hypocalcemic seizures)\n", + " \n", + " \n", + " Divergence nystagmus\n", + " definition of HP:0030691 (Divergence nystagmus)\n", + " \n", + " \n", + " A condition in which both eyes beat outward simultaneously.\n", + " definition of HP:0030691 (Divergence nystagmus)\n", + " \n", + " \n", + " Broad 3rd toe\n", + " definition of HP:0100041 (Broad 3rd toe)\n", + " \n", + " \n", + " A broad appearance of the third toe.\n", + " definition of HP:0100041 (Broad 3rd toe)\n", + " \n", + " \n", + " #Broad 3rd toe #Wide 3rd toe\n", + " definition of HP:0100041 (Broad 3rd toe)\n", + " \n", + " \n", + " Cervical squamous cell papilloma\n", + " definition of HP:4000153 (Cervical squamous cell papilloma)\n", + " \n", + " \n", + " A benign tumor arising from the epithelial surface of the cervix and usually caused by Human Papillomavirus infection.\n", + " definition of HP:4000153 (Cervical squamous cell papilloma)\n", + " \n", + " \n", + " #Cervix squamous papilloma\n", + " definition of HP:4000153 (Cervical squamous cell papilloma)\n", + " \n", + " \n", + " Bullet-shaped phalanges of the 4th finger\n", + " definition of HP:0009405 (Bullet-shaped phalanges of the 4th finger)\n", + " \n", + " \n", + " A fourth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.\n", + " definition of HP:0009405 (Bullet-shaped phalanges of the 4th finger)\n", + " \n", + " \n", + " #Bullet-shaped of bone of ring finger\n", + " definition of HP:0009405 (Bullet-shaped phalanges of the 4th finger)\n", + " \n", + " \n", + " Positive blood molindone test\n", + " definition of HP:0410286 (Positive blood molindone test)\n", + " \n", + " \n", + " Detection of molindone in the blood, an antipyschotic used for treatment of schizophrenia.\n", + " definition of HP:0410286 (Positive blood molindone test)\n", + " \n", + " \n", + " #Positive blood Moban test\n", + " definition of HP:0410286 (Positive blood molindone test)\n", + " \n", + " \n", + " Bilobate gallbladder\n", + " definition of HP:0005608 (Bilobate gallbladder)\n", + " \n", + " \n", + " The presence of a bilobed gallbladder, related to a duplication of the gallbladder primordium.\n", + " definition of HP:0005608 (Bilobate gallbladder)\n", + " \n", + " \n", + " #Bilobed gallbladder #Double gallbladder #Gallbladder duplication #Gallbladder septated\n", + " definition of HP:0005608 (Bilobate gallbladder)\n", + " \n", + " \n", + " Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine\n", + " definition of HP:0410303 (Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine)\n", + " \n", + " \n", + " The inability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination.\n", + " definition of HP:0410303 (Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine)\n", + " \n", + " \n", + " Dilatation of the ventricular cavity\n", + " definition of HP:0006698 (Dilatation of the ventricular cavity)\n", + " \n", + " \n", + " A localized outpouching of ventricular cavity that is generally associated with dyskinesia and paradoxical expansion during systole.\n", + " definition of HP:0006698 (Dilatation of the ventricular cavity)\n", + " \n", + " \n", + " Full cheeks\n", + " definition of HP:0000293 (Full cheeks)\n", + " \n", + " \n", + " Increased prominence or roundness of soft tissues between zygomata and mandible.\n", + " definition of HP:0000293 (Full cheeks)\n", + " \n", + " \n", + " #Apple cheeks #Big cheeks #Full cheeks #Increased size of cheeks #Large cheeks\n", + " definition of HP:0000293 (Full cheeks)\n", + " \n", + " \n", + " Diffuse slow skin atrophy\n", + " definition of HP:0007504 (Diffuse slow skin atrophy)\n", + " \n", + " \n", + " Abnormal trabecular meshwork morphology\n", + " definition of HP:0012630 (Abnormal trabecular meshwork morphology)\n", + " \n", + " \n", + " An anomaly of the trabecular meshwork, which is the porelike structure surrounding the entire circumference of the anterior chamber at the base of the cornea and near the ciliary body. The trabecular mesh work is responsible for draining the aqueous humor into the canal of Schlemm.\n", + " definition of HP:0012630 (Abnormal trabecular meshwork morphology)\n", + " \n", + " \n", + " #Abnormality of the trabecular meshwork\n", + " definition of HP:0012630 (Abnormal trabecular meshwork morphology)\n", + " \n", + " \n", + " Abnormal umbilicus morphology\n", + " definition of HP:0001551 (Abnormal umbilicus morphology)\n", + " \n", + " \n", + " An abnormality of the structure or appearance of the umbilicus.\n", + " definition of HP:0001551 (Abnormal umbilicus morphology)\n", + " \n", + " \n", + " #Abnormal belly button #Abnormal navel #Abnormal umbilicus\n", + " definition of HP:0001551 (Abnormal umbilicus morphology)\n", + " \n", + " \n", + " Hypopigmented macule\n", + " definition of HP:0020073 (Hypopigmented macule)\n", + " \n", + " \n", + " A white or lighter patch of skin that may appear anywhere on the body and are caused by decreased skin pigmentation.\n", + " definition of HP:0020073 (Hypopigmented macule)\n", + " \n", + " \n", + " White streaks/specks on enamel.\n", + " definition of HP:0025123 (White streaks/specks on enamel.)\n", + " \n", + " \n", + " Areas of white discoloration visible on the surface of the teeth (enamel) in the form of streaks or specks.\n", + " definition of HP:0025123 (White streaks/specks on enamel.)\n", + " \n", + " \n", + " Gastroparesis\n", + " definition of HP:0002578 (Gastroparesis)\n", + " \n", + " \n", + " Decreased strength of the muscle layer of stomach, which leads to a decreased ability to empty the contents of the stomach despite the absence of obstruction.\n", + " definition of HP:0002578 (Gastroparesis)\n", + " \n", + " \n", + " #Delayed gastric emptying\n", + " definition of HP:0002578 (Gastroparesis)\n", + " \n", + " \n", + " Third trimester onset\n", + " definition of HP:0034197 (Third trimester onset)\n", + " \n", + " \n", + " This term refers to a phenotypic feature that was first observed prior to birth during the third trimester, which is defined as 28 weeks and zero days (28+0) of gestation and beyond.\n", + " definition of HP:0034197 (Third trimester onset)\n", + " \n", + " \n", + " Neonatal electro-clinical seizure with behavior arrest\n", + " definition of HP:0032823 (Neonatal electro-clinical seizure with behavior arrest)\n", + " \n", + " \n", + " Neonatal electro-clinical non-motor seizure with behavior arrest is a type of neonatal electro-clinical seizure characterized by an arrest of activities, freezing, immobilization, with or without apnea and/or other autonomic manifestations.\n", + " definition of HP:0032823 (Neonatal electro-clinical seizure with behavior arrest)\n", + " \n", + " \n", + " #Neonatal electro-clinical seizure with behaviour arrest #Neonatal electroclinical seizure with behavioral arrest #Neonatal electroclinical seizure with behavioural arrest\n", + " definition of HP:0032823 (Neonatal electro-clinical seizure with behavior arrest)\n", + " \n", + " \n", + " Abnormal incisura morphology\n", + " definition of HP:0031228 (Abnormal incisura morphology)\n", + " \n", + " \n", + " An abnormal shape of the incisura, defined as the narrowed downward continuation of the conchal space bounded anteriorly by the borders of the tragus, posteriorly by the antitragus, and along its lower lateral margins and inferior boundary by the connection between the first two. The upper boundary is a somewhat arbitrary line crossing from the apices of the antitragus and the tragus.\n", + " definition of HP:0031228 (Abnormal incisura morphology)\n", + " \n", + " \n", + " Fibroma\n", + " definition of HP:0010614 (Fibroma)\n", + " \n", + " \n", + " Benign tumors that are composed of fibrous or connective tissue. They can grow in all organs, arising from mesenchyme tissue. The term \\"fibroblastic\\" or \\"fibromatous\\" is used to describe tumors of the fibrous connective tissue. When the term fibroma is used without modifier, it is usually considered benign, with the term fibrosarcoma reserved for malignant tumors.\n", + " definition of HP:0010614 (Fibroma)\n", + " \n", + " \n", + " Chaddock reflex\n", + " definition of HP:0010875 (Chaddock reflex)\n", + " \n", + " \n", + " A diagnostic reflex elicited by stimulation of the skin over the surface of the lateral malleolus of the foot. The Chaddock refelx is present if there is extension of one or more or all of the toes with or without fanning of them when the external inframalleolar skin is stimulated. The Chaddock sign, similar to the Babinski sign, is taken to be an indication of disease of the spinocortical (pyramidal) tract.\n", + " definition of HP:0010875 (Chaddock reflex)\n", + " \n", + " \n", + " Increased circulating interleukin 21 concentration\n", + " definition of HP:0034166 (Increased circulating interleukin 21 concentration)\n", + " \n", + " \n", + " An abnormally increased concentration of interleukin 21 in the blood circulation.\n", + " definition of HP:0034166 (Increased circulating interleukin 21 concentration)\n", + " \n", + " \n", + " Diminished circulating hyaluronidase activity\n", + " definition of HP:6000969 (Diminished circulating hyaluronidase activity)\n", + " \n", + " \n", + " The activity or concentration of hyaluronidase in the blood circulation is below the lower limit of normal.\n", + " definition of HP:6000969 (Diminished circulating hyaluronidase activity)\n", + " \n", + " \n", + " Diastomatomyelia\n", + " definition of HP:0100563 (Diastomatomyelia)\n", + " \n", + " \n", + " Coexistence of two hemicords, at variable levels, causing splaying of the posterior vertebral elements. Results in neurological deficits in lower limb or perineum.\n", + " definition of HP:0100563 (Diastomatomyelia)\n", + " \n", + " \n", + " Monocular strabismus\n", + " definition of HP:0010877 (Monocular strabismus)\n", + " \n", + " \n", + " A type of strabismus in which the fixating eye is always the same one, while the other eye is constantly deviated. Monocular strabismus is to be distinguished from alternating strabismus, in which either of the eyes 'squints' at different times.\n", + " definition of HP:0010877 (Monocular strabismus)\n", + " \n", + " \n", + " #Unilateral strabismus\n", + " definition of HP:0010877 (Monocular strabismus)\n", + " \n", + " \n", + " Vestibular sensory seeking\n", + " definition of HP:5200066 (Vestibular sensory seeking)\n", + " \n", + " \n", + " Pursuit of vestibular stimulation that is abnormal in intensity and/or frequency.\n", + " definition of HP:5200066 (Vestibular sensory seeking)\n", + " \n", + " \n", + " Incomplete cleft of the upper lip\n", + " definition of HP:0011340 (Incomplete cleft of the upper lip)\n", + " \n", + " \n", + " Cleft of the upper lip that does not go all the way from the bottom of the upper lip until the nasal cavity.\n", + " definition of HP:0011340 (Incomplete cleft of the upper lip)\n", + " \n", + " \n", + " #Forme fruste unilateral cleft lip #Incomplete cheiloschisis #Incomplete cleft of the upper lip #Notched cleft of the upper lip #Partial cleft of the upper lip\n", + " definition of HP:0011340 (Incomplete cleft of the upper lip)\n", + " \n", + " \n", + " Abnormal male external genitalia morphology\n", + " definition of HP:0000032 (Abnormal male external genitalia morphology)\n", + " \n", + " \n", + " Any structural abnormality of male external genitalia.\n", + " definition of HP:0000032 (Abnormal male external genitalia morphology)\n", + " \n", + " \n", + " #Abnormality of male external genitalia\n", + " definition of HP:0000032 (Abnormal male external genitalia morphology)\n", + " \n", + " \n", + " Neoplasm of the adrenal gland\n", + " definition of HP:0100631 (Neoplasm of the adrenal gland)\n", + " \n", + " \n", + " A tumor (abnormal growth of tissue) of the adrenal gland.\n", + " definition of HP:0100631 (Neoplasm of the adrenal gland)\n", + " \n", + " \n", + " #Adrenal neoplasia\n", + " definition of HP:0100631 (Neoplasm of the adrenal gland)\n", + " \n", + " \n", + " Somatosensory-induced seizure\n", + " definition of HP:0020213 (Somatosensory-induced seizure)\n", + " \n", + " \n", + " A somatosensory reflex seizure is a seizure precipitated by somatic stimulation of a specific part of the body in the absence of startle or surprise.\n", + " definition of HP:0020213 (Somatosensory-induced seizure)\n", + " \n", + " \n", + " Focal cognitive seizure with neglect\n", + " definition of HP:0032693 (Focal cognitive seizure with neglect)\n", + " \n", + " \n", + " A focal cognitive seizure characterized by neglect as the initial semiological manifestation.\n", + " definition of HP:0032693 (Focal cognitive seizure with neglect)\n", + " \n", + " \n", + " Visual sensory seeking\n", + " definition of HP:5200067 (Visual sensory seeking)\n", + " \n", + " \n", + " Pursuit visual stimulation by looking at specific sights, images, and/or colors that is abnormal in intensity and/or frequency.\n", + " definition of HP:5200067 (Visual sensory seeking)\n", + " \n", + " \n", + " Hemiareflexia\n", + " definition of HP:0031004 (Hemiareflexia)\n", + " \n", + " \n", + " Areflexia that is limited to one side of the body.\n", + " definition of HP:0031004 (Hemiareflexia)\n", + " \n", + " \n", + " Hydroxylysinemia\n", + " definition of HP:0034463 (Hydroxylysinemia)\n", + " \n", + " \n", + " An increased concentration of hydroxylysine in the blood circulation. Hydroxylysine arises from a post-translational hydroxy modification of lysine and is unique to collagen and proteins containing collagen-like sequences. Elevated concentrations of hydroxylysine may indicate increased bone turnover.\n", + " definition of HP:0034463 (Hydroxylysinemia)\n", + " \n", + " \n", + " #Hydroxylysine present in blood\n", + " definition of HP:0034463 (Hydroxylysinemia)\n", + " \n", + " \n", + " Camptodactyly\n", + " definition of HP:0012385 (Camptodactyly)\n", + " \n", + " \n", + " The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.\n", + " definition of HP:0012385 (Camptodactyly)\n", + " \n", + " \n", + " #Permanent flexion of the finger or toe\n", + " definition of HP:0012385 (Camptodactyly)\n", + " \n", + " \n", + " Broad medial eyebrow\n", + " definition of HP:0034003 (Broad medial eyebrow)\n", + " \n", + " \n", + " Regional increase in the width (height) of the middle portion of the eyebrow.\n", + " definition of HP:0034003 (Broad medial eyebrow)\n", + " \n", + " \n", + " #Medial broadening of eyebrows\n", + " definition of HP:0034003 (Broad medial eyebrow)\n", + " \n", + " \n", + " Interhemispheric cyst\n", + " definition of HP:0032327 (Interhemispheric cyst)\n", + " \n", + " \n", + " Cystic collection (sac-like, fluid containing pocket of membranous tissue) located in the interhemispheric fissure, with or without communication with the ventricular system.\n", + " definition of HP:0032327 (Interhemispheric cyst)\n", + " \n", + " \n", + " Symphalangism affecting the distal phalanx of the 2nd toe\n", + " definition of HP:0010419 (Symphalangism affecting the distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Fused outermost bone of the 2nd toe\n", + " definition of HP:0010419 (Symphalangism affecting the distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Generalized hirsutism\n", + " definition of HP:0002230 (Generalized hirsutism)\n", + " \n", + " \n", + " Abnormally increased hair growth over much of the entire body.\n", + " definition of HP:0002230 (Generalized hirsutism)\n", + " \n", + " \n", + " #Excessive hairiness over body #Generalised hirsutism\n", + " definition of HP:0002230 (Generalized hirsutism)\n", + " \n", + " \n", + " Short distal phalanx of the 5th finger\n", + " definition of HP:0004227 (Short distal phalanx of the 5th finger)\n", + " \n", + " \n", + " Hypoplastic/small distal phalanx of the fifth finger.\n", + " definition of HP:0004227 (Short distal phalanx of the 5th finger)\n", + " \n", + " \n", + " #Brachytelophalangism V #Fifth digit distal phalangeal hypoplasia #Hypoplastic/small terminal phalanx of the little finger #Short distal phalanx of the fifth finger #Short outermost little finger bone #Short outermost pinkie finger bone #Short outermost pinky finger bone\n", + " definition of HP:0004227 (Short distal phalanx of the 5th finger)\n", + " \n", + " \n", + " Positive CMV urine nucleic acid test\n", + " definition of HP:0034890 (Positive CMV urine nucleic acid test)\n", + " \n", + " \n", + " Detection of Cytomegalovirus (CMV) nucleic acid in the urine by a method such as polymerase chain reaction.\n", + " definition of HP:0034890 (Positive CMV urine nucleic acid test)\n", + " \n", + " \n", + " #Cytomegalovirus (CMV) PCR in urine positive #Positive cytomegalovirus urine nucleic acid test\n", + " definition of HP:0034890 (Positive CMV urine nucleic acid test)\n", + " \n", + " \n", + " Generalized muscle hypertrophy\n", + " definition of HP:0003720 (Generalized muscle hypertrophy)\n", + " \n", + " \n", + " Hypertrophy (increase in size) of muscle tissue in a generalized (not localized) distribution.\n", + " definition of HP:0003720 (Generalized muscle hypertrophy)\n", + " \n", + " \n", + " #Generalised increase in muscle cell size #Generalised muscle hypertrophy #Generalized increase in muscle cell size\n", + " definition of HP:0003720 (Generalized muscle hypertrophy)\n", + " \n", + " \n", + " Anterior rib cupping\n", + " definition of HP:0000907 (Anterior rib cupping)\n", + " \n", + " \n", + " Wide, concave anterior rib end.\n", + " definition of HP:0000907 (Anterior rib cupping)\n", + " \n", + " \n", + " #Anterior cupping of ribs #Anteriorly splayed ribs\n", + " definition of HP:0000907 (Anterior rib cupping)\n", + " \n", + " \n", + " Migratory erythematous plaque\n", + " definition of HP:0033622 (Migratory erythematous plaque)\n", + " \n", + " \n", + " A migratory, centrifugal, erythematous, tender, non-purpuric, and well-demarcated plaque. This feature may be observed in TNF receptor-associated periodic syndrome, in which it often occurs together with migratory myalgia in muscles located underneath the affected areas of skin.\n", + " definition of HP:0033622 (Migratory erythematous plaque)\n", + " \n", + " \n", + " Pretibial blistering\n", + " definition of HP:0012221 (Pretibial blistering)\n", + " \n", + " \n", + " A type of blistering that affects the skin of the tibial region.\n", + " definition of HP:0012221 (Pretibial blistering)\n", + " \n", + " \n", + " #Pretibial epidermolysis bullosa\n", + " definition of HP:0012221 (Pretibial blistering)\n", + " \n", + " \n", + " Cognitive regression\n", + " definition of HP:0034332 (Cognitive regression)\n", + " \n", + " \n", + " Loss of cognitive developmental skills, as manifested by loss of developmental cognitive milestones.\n", + " definition of HP:0034332 (Cognitive regression)\n", + " \n", + " \n", + " Focal necrotic thalamus lesion\n", + " definition of HP:0034988 (Focal necrotic thalamus lesion)\n", + " \n", + " \n", + " A localized area of cell death, often accompanied by infiltration of inflammatory cells, in the thalamus.\n", + " definition of HP:0034988 (Focal necrotic thalamus lesion)\n", + " \n", + " \n", + " Macular hypoplasia\n", + " definition of HP:0001104 (Macular hypoplasia)\n", + " \n", + " \n", + " Underdevelopment of the macula lutea.\n", + " definition of HP:0001104 (Macular hypoplasia)\n", + " \n", + " \n", + " Duplication of bones involving the upper extremities\n", + " definition of HP:0009142 (Duplication of bones involving the upper extremities)\n", + " \n", + " \n", + " #Duplication of bones involving the upper extremities\n", + " definition of HP:0009142 (Duplication of bones involving the upper extremities)\n", + " \n", + " \n", + " Anxiety\n", + " definition of HP:0000739 (Anxiety)\n", + " \n", + " \n", + " Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.\n", + " definition of HP:0000739 (Anxiety)\n", + " \n", + " \n", + " #Anxiety #Anxiousness #Excessive, persistent worry and fear\n", + " definition of HP:0000739 (Anxiety)\n", + " \n", + " \n", + " Abnormal morphology of the chordae tendinae of the mitral valve\n", + " definition of HP:0025523 (Abnormal morphology of the chordae tendinae of the mitral valve)\n", + " \n", + " \n", + " A structural anomaly of the chordae tendinae of the mitral valve, whose main function is to transmit the contraction and relaxation of the papillary muscles during the cardiac cycle, thus ensuring the closing of the leaflets of the mitral valve.\n", + " definition of HP:0025523 (Abnormal morphology of the chordae tendinae of the mitral valve)\n", + " \n", + " \n", + " Stercoral ulcer\n", + " definition of HP:0012425 (Stercoral ulcer)\n", + " \n", + " \n", + " An ulcer of the colon due to pressure and irritation from retained fecal masses.\n", + " definition of HP:0012425 (Stercoral ulcer)\n", + " \n", + " \n", + " Agenesis of second permanent molar\n", + " definition of HP:0011057 (Agenesis of second permanent molar)\n", + " \n", + " \n", + " Agenesis of either mandibular second permanent molar or maxillary second permanent molar.\n", + " definition of HP:0011057 (Agenesis of second permanent molar)\n", + " \n", + " \n", + " #Agenesis of twelve year molar #Failure of development of second permanent molar #Failure of development of twelve year molar\n", + " definition of HP:0011057 (Agenesis of second permanent molar)\n", + " \n", + " \n", + " Pilonidal abscess\n", + " definition of HP:0010771 (Pilonidal abscess)\n", + " \n", + " \n", + " A hair-containing cyst or sinus usually in the coccygeal region.\n", + " definition of HP:0010771 (Pilonidal abscess)\n", + " \n", + " \n", + " #Sacrococcygeal fistula\n", + " definition of HP:0010771 (Pilonidal abscess)\n", + " \n", + " \n", + " Respiratory alkalosis\n", + " definition of HP:0001950 (Respiratory alkalosis)\n", + " \n", + " \n", + " Alkalosis due to excess loss of carbon dioxide from the body.\n", + " definition of HP:0001950 (Respiratory alkalosis)\n", + " \n", + " \n", + " Abnormal T3/T4 ratio\n", + " definition of HP:0012558 (Abnormal T3/T4 ratio)\n", + " \n", + " \n", + " A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that deviates from normal.\n", + " definition of HP:0012558 (Abnormal T3/T4 ratio)\n", + " \n", + " \n", + " Polyhydramnios\n", + " definition of HP:0001561 (Polyhydramnios)\n", + " \n", + " \n", + " The presence of excess amniotic fluid in the uterus during pregnancy.\n", + " definition of HP:0001561 (Polyhydramnios)\n", + " \n", + " \n", + " #High levels of amniotic fluid #Hydramnios\n", + " definition of HP:0001561 (Polyhydramnios)\n", + " \n", + " \n", + " Abnormal umbilical cord blood vessel morphology\n", + " definition of HP:0011403 (Abnormal umbilical cord blood vessel morphology)\n", + " \n", + " \n", + " #Abnormal umbilical cord blood vessels\n", + " definition of HP:0011403 (Abnormal umbilical cord blood vessel morphology)\n", + " \n", + " \n", + " Autoimmune hypoparathyroidism\n", + " definition of HP:0011771 (Autoimmune hypoparathyroidism)\n", + " \n", + " \n", + " A type of hypoparathyroidism with circulating antiparathyroid or anti-calcium sensing receptor antibodies indicative of autoimmunity.\n", + " definition of HP:0011771 (Autoimmune hypoparathyroidism)\n", + " \n", + " \n", + " Patchy sclerosis of middle toe phalanx\n", + " definition of HP:0010199 (Patchy sclerosis of middle toe phalanx)\n", + " \n", + " \n", + " Patchy (irregular) increase in bone density of one or more of the middle phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays.\n", + " definition of HP:0010199 (Patchy sclerosis of middle toe phalanx)\n", + " \n", + " \n", + " #Patchy sclerosis of the middle phalanges of the toes #Uneven increase in bone density in middle toe bone\n", + " definition of HP:0010199 (Patchy sclerosis of middle toe phalanx)\n", + " \n", + " \n", + " EEG with generalized polymorphic epileptiform discharges\n", + " definition of HP:0011200 (EEG with generalized polymorphic epileptiform discharges)\n", + " \n", + " \n", + " Generalized epileptiform discharges of different shapes and frequencies.\n", + " definition of HP:0011200 (EEG with generalized polymorphic epileptiform discharges)\n", + " \n", + " \n", + " #EEG with generalised polymorphic epileptiform discharges\n", + " definition of HP:0011200 (EEG with generalized polymorphic epileptiform discharges)\n", + " \n", + " \n", + " Chronic intestinal candidiasis\n", + " definition of HP:0005411 (Chronic intestinal candidiasis)\n", + " \n", + " \n", + " Persistent overgrowth of Candida albicans in the gastrointestinal tract.\n", + " definition of HP:0005411 (Chronic intestinal candidiasis)\n", + " \n", + " \n", + " Partial duplication of the proximal phalanx of the 4th finger\n", + " definition of HP:0009983 (Partial duplication of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " Partial duplication of the fourth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.\n", + " definition of HP:0009983 (Partial duplication of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " #Partial duplication of the innermost bone of the ring finger\n", + " definition of HP:0009983 (Partial duplication of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " Sclerosis of the middle phalanx of the 3rd finger\n", + " definition of HP:0100905 (Sclerosis of the middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Increased bone density in the middle bone of the middle finger\n", + " definition of HP:0100905 (Sclerosis of the middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " Megarectum\n", + " definition of HP:0025024 (Megarectum)\n", + " \n", + " \n", + " An abnormal dilation of the rectum. There is a large filled rectum as a result of underlying innervation or muscular abnormalities, which remains after disimpaction of the rectum.\n", + " definition of HP:0025024 (Megarectum)\n", + " \n", + " \n", + " Decreased pre-bronchodilator forced expiratory flow 25-75%\n", + " definition of HP:0032360 (Decreased pre-bronchodilator forced expiratory flow 25-75%)\n", + " \n", + " \n", + " A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. Here, the test is performed before the administration of a bronchodilating medication.\n", + " definition of HP:0032360 (Decreased pre-bronchodilator forced expiratory flow 25-75%)\n", + " \n", + " \n", + " #Decreased pre bronchodilator forced expiratory flow 25-75% #Decreased pre-bronchodilator FEF25-75% #Decreased prebronchodilator forced expiratory flow 25-75%\n", + " definition of HP:0032360 (Decreased pre-bronchodilator forced expiratory flow 25-75%)\n", + " \n", + " \n", + " Impaired vibration sensation at ankles\n", + " definition of HP:0006938 (Impaired vibration sensation at ankles)\n", + " \n", + " \n", + " A decrease in the ability to perceive vibration at the ankles. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to the malleoli of the ankles.\n", + " definition of HP:0006938 (Impaired vibration sensation at ankles)\n", + " \n", + " \n", + " #Decreased vibration sense at ankles #Decreased vibration sense in feet #Impaired vibration sensation at ankles\n", + " definition of HP:0006938 (Impaired vibration sensation at ankles)\n", + " \n", + " \n", + " Periostosis\n", + " definition of HP:0030314 (Periostosis)\n", + " \n", + " \n", + " Abnormal deposition of periosteal bone.\n", + " definition of HP:0030314 (Periostosis)\n", + " \n", + " \n", + " Increased urinary type 1 collagen N-terminal telopeptide level\n", + " definition of HP:0032208 (Increased urinary type 1 collagen N-terminal telopeptide level)\n", + " \n", + " \n", + " An increased concentration of type 1 collagen N-terminal telopeptide (NTx) level in the urine. Generally the test is performed over a period of time, for instance, 10 cc of morning urine can be collected following 12 hours overnight fasting or for 24 hours.\n", + " definition of HP:0032208 (Increased urinary type 1 collagen N-terminal telopeptide level)\n", + " \n", + " \n", + " #Increased collagen crosslinked N-telopeptide [Moles/volume] in 24 hour urine #Increased urine NTx level\n", + " definition of HP:0032208 (Increased urinary type 1 collagen N-terminal telopeptide level)\n", + " \n", + " \n", + " Lower limb dysmetria\n", + " definition of HP:0020035 (Lower limb dysmetria)\n", + " \n", + " \n", + " A lack of coordination of leg movement manifested by undershoot or overshoot of the intended position of the leg.\n", + " definition of HP:0020035 (Lower limb dysmetria)\n", + " \n", + " \n", + " Reduced muscle 6-phosphofructokinase activity\n", + " definition of HP:6000359 (Reduced muscle 6-phosphofructokinase activity)\n", + " \n", + " \n", + " Activity of the enzyme 6-phosphofructokinase in muscle tissue is below the lower limit of normal. 6-phosphofructokinase (EC 2.7.1.11) is also known as phosphofructokinase I and phosphohexokinase. The PFKM gene encodes the muscle isoform of phosphofructokinase. PFK catalyzes the irreversible conversion of fructose-6-phosphate to fructose-1,6-bisphosphate and is a key regulatory enzyme in glycolysis.\n", + " definition of HP:6000359 (Reduced muscle 6-phosphofructokinase activity)\n", + " \n", + " \n", + " Ulnar deviation of the hand or of fingers of the hand\n", + " definition of HP:0001193 (Ulnar deviation of the hand or of fingers of the hand)\n", + " \n", + " \n", + " Generalized limb muscle atrophy\n", + " definition of HP:0009055 (Generalized limb muscle atrophy)\n", + " \n", + " \n", + " Generalized (unlocalized) atrophy affecting muscles of the limbs in both proximal and distal locations.\n", + " definition of HP:0009055 (Generalized limb muscle atrophy)\n", + " \n", + " \n", + " #Generalised limb muscle atrophy #Generalised muscle atrophy, proximal and distal #Generalised muscle wasting #Generalized muscle atrophy, proximal and distal #Generalized muscle wasting\n", + " definition of HP:0009055 (Generalized limb muscle atrophy)\n", + " \n", + " \n", + " Rib gap\n", + " definition of HP:0030280 (Rib gap)\n", + " \n", + " \n", + " Radiolucent focal defect of a rib shaft.\n", + " definition of HP:0030280 (Rib gap)\n", + " \n", + " \n", + " #Rib gap\n", + " definition of HP:0030280 (Rib gap)\n", + " \n", + " \n", + " Diffuse nuclear cataract\n", + " definition of HP:0007657 (Diffuse nuclear cataract)\n", + " \n", + " \n", + " Opacity of the entire lens nucleus.\n", + " definition of HP:0007657 (Diffuse nuclear cataract)\n", + " \n", + " \n", + " Fractured clavicle bone\n", + " definition of HP:0041144 (Fractured clavicle bone)\n", + " \n", + " \n", + " A partial or complete breakage of the clavicle bone.\n", + " definition of HP:0041144 (Fractured clavicle bone)\n", + " \n", + " \n", + " #bone clavicle bone\n", + " definition of HP:0041144 (Fractured clavicle bone)\n", + " \n", + " \n", + " Focal motor status epilepticus\n", + " definition of HP:0032663 (Focal motor status epilepticus)\n", + " \n", + " \n", + " Status epilepticus with focal motor signs originating within networks limited to one hemisphere. Involves musculature in any form. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.\n", + " definition of HP:0032663 (Focal motor status epilepticus)\n", + " \n", + " \n", + " Paraganglioma\n", + " definition of HP:0002668 (Paraganglioma)\n", + " \n", + " \n", + " A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation.\n", + " definition of HP:0002668 (Paraganglioma)\n", + " \n", + " \n", + " #Carotid body tumors #Carotid body tumours #Paragangliomas\n", + " definition of HP:0002668 (Paraganglioma)\n", + " \n", + " \n", + " Gallbladder dysfunction\n", + " definition of HP:0005609 (Gallbladder dysfunction)\n", + " \n", + " \n", + " #Gallbladder dysfunction\n", + " definition of HP:0005609 (Gallbladder dysfunction)\n", + " \n", + " \n", + " Abnormal immune serum protein physiology\n", + " definition of HP:0011111 (Abnormal immune serum protein physiology)\n", + " \n", + " \n", + " An abnormality of the concentration or function of circulating immune proteins.\n", + " definition of HP:0011111 (Abnormal immune serum protein physiology)\n", + " \n", + " \n", + " #Abnormality of immune serum protein physiology\n", + " definition of HP:0011111 (Abnormal immune serum protein physiology)\n", + " \n", + " \n", + " Short fetal femur length\n", + " definition of HP:0011428 (Short fetal femur length)\n", + " \n", + " \n", + " A short femur length is defined as either a measurement below the 2.5th percentile for gestational age or a measurement that is less than 0.9 of that predicted by the measured biparietal diameter. The femur should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637).\n", + " definition of HP:0011428 (Short fetal femur length)\n", + " \n", + " \n", + " #Short fetal thigh bone length #Short foetal femur length #Short foetal thigh bone length\n", + " definition of HP:0011428 (Short fetal femur length)\n", + " \n", + " \n", + " Abnormal electrophysiology of sinoatrial node origin\n", + " definition of HP:0011702 (Abnormal electrophysiology of sinoatrial node origin)\n", + " \n", + " \n", + " An abnormality of the sinoatrial (SA) node in the right atrium. THe SA node acts as the pacemaker of the heart.\n", + " definition of HP:0011702 (Abnormal electrophysiology of sinoatrial node origin)\n", + " \n", + " \n", + " Colpocephaly\n", + " definition of HP:0030048 (Colpocephaly)\n", + " \n", + " \n", + " Colpocephaly is an anatomic finding in the brain manifested by occipital horns that are disproportionately enlarged in comparison with other parts of the lateral ventricles.\n", + " definition of HP:0030048 (Colpocephaly)\n", + " \n", + " \n", + " Zollinger-Ellison syndrome\n", + " definition of HP:0002044 (Zollinger-Ellison syndrome)\n", + " \n", + " \n", + " A condition in which there is increased production of gastrin by a gastrin-secreting tumor (usually located in the pancreas, duodenum, or abdominal lymph nodes) that stimulates the gastric mucosa to maximal activity, with consequent gastrointestinal mucosal ulceration.\n", + " definition of HP:0002044 (Zollinger-Ellison syndrome)\n", + " \n", + " \n", + " Sparse lateral eyebrow\n", + " definition of HP:0005338 (Sparse lateral eyebrow)\n", + " \n", + " \n", + " Decreased density/number and/or decreased diameter of lateral eyebrow hairs.\n", + " definition of HP:0005338 (Sparse lateral eyebrow)\n", + " \n", + " \n", + " #Lateral hypoplasia of eyebrows #Lateral thinning of eyebrows #Laterally sparse eyebrow #Laterally sparse eyebrows #Limited hair on end of eyebrow\n", + " definition of HP:0005338 (Sparse lateral eyebrow)\n", + " \n", + " \n", + " Toe deformity\n", + " definition of HP:0034398 (Toe deformity)\n", + " \n", + " \n", + " Abnormal positioning of toe phalanges. Deformities of the lesser toes often occur gradually, though they can be brought on by trauma. The main adult sagittal plane deformities consist of claw toes, hammer toes and mallet toes. Axial plane deformities include crossover toes.\n", + " definition of HP:0034398 (Toe deformity)\n", + " \n", + " \n", + " Bracket epiphyses of the middle phalanges of the hand\n", + " definition of HP:0010258 (Bracket epiphyses of the middle phalanges of the hand)\n", + " \n", + " \n", + " An abnormality of the middle phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.\n", + " definition of HP:0010258 (Bracket epiphyses of the middle phalanges of the hand)\n", + " \n", + " \n", + " #Bracket shaped end part of the middle hand bones\n", + " definition of HP:0010258 (Bracket epiphyses of the middle phalanges of the hand)\n", + " \n", + " \n", + " Duplication of the upper lip\n", + " definition of HP:0040295 (Duplication of the upper lip)\n", + " \n", + " \n", + " #Double upper lip\n", + " definition of HP:0040295 (Duplication of the upper lip)\n", + " \n", + " \n", + " Abducens palsy\n", + " definition of HP:0006897 (Abducens palsy)\n", + " \n", + " \n", + " Malfunction of the abducens nerve as manifested by impairment of the ability of the affected eye to be moved outward. Patients who develop abducens nerve palsy often present with binocular horizontal diplopia, which is a double vision when looking at objects side by side. There will be a notable weakness of the ipsilateral lateral rectus muscle leading to a deficit in of eye abduction on the affected side. Some patients may present with a constant head turning movement to maintain binocular fusion and to lessen the degree of diplopia.\n", + " definition of HP:0006897 (Abducens palsy)\n", + " \n", + " \n", + " #Abducens nerve palsy #Abducens nerve paralysis #Abducens nerve paresis #Cranial nerve VI palsy #Lateral rectus muscle denervation paresis #Sixth nerve palsy\n", + " definition of HP:0006897 (Abducens palsy)\n", + " \n", + " \n", + " Increased HDL cholesterol concentration\n", + " definition of HP:0012184 (Increased HDL cholesterol concentration)\n", + " \n", + " \n", + " An elevated concentration of high-density lipoprotein cholesterol (HDL) in the blood.\n", + " definition of HP:0012184 (Increased HDL cholesterol concentration)\n", + " \n", + " \n", + " #High blood HDL level #Hyperalphalipoproteinemia #Increased circulating high-density lipoprotein levels\n", + " definition of HP:0012184 (Increased HDL cholesterol concentration)\n", + " \n", + " \n", + " Decreased circulating biotin concentration\n", + " definition of HP:0034599 (Decreased circulating biotin concentration)\n", + " \n", + " \n", + " Concentration of biotin in the blood circulation below the lower limit of normal.\n", + " definition of HP:0034599 (Decreased circulating biotin concentration)\n", + " \n", + " \n", + " #Biotin low in blood\n", + " definition of HP:0034599 (Decreased circulating biotin concentration)\n", + " \n", + " \n", + " Positive lupus band test\n", + " definition of HP:4000107 (Positive lupus band test)\n", + " \n", + " \n", + " Deposits of immunoglobulins and complement components along the dermoepidermal junction.\n", + " definition of HP:4000107 (Positive lupus band test)\n", + " \n", + " \n", + " #Lupus band test positive\n", + " definition of HP:4000107 (Positive lupus band test)\n", + " \n", + " \n", + " Decreased mitochondrial number\n", + " definition of HP:0040013 (Decreased mitochondrial number)\n", + " \n", + " \n", + " Organic aciduria\n", + " definition of HP:0001992 (Organic aciduria)\n", + " \n", + " \n", + " Excretion of non-amino organic acids in urine.\n", + " definition of HP:0001992 (Organic aciduria)\n", + " \n", + " \n", + " Coarctation of aorta\n", + " definition of HP:0001680 (Coarctation of aorta)\n", + " \n", + " \n", + " Coarctation of the aorta is a narrowing or constriction of a segment of the aorta.\n", + " definition of HP:0001680 (Coarctation of aorta)\n", + " \n", + " \n", + " #Aortic coarctation #Coarctation of the aorta #Narrowing of aorta #Narrowing of the aorta\n", + " definition of HP:0001680 (Coarctation of aorta)\n", + " \n", + " \n", + " Abnormal CSF alpha-aminobutyrate concentration\n", + " definition of HP:0500247 (Abnormal CSF alpha-aminobutyrate concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of alpha-aminobutyrate in the cerebrospinal fluid.\n", + " definition of HP:0500247 (Abnormal CSF alpha-aminobutyrate concentration)\n", + " \n", + " \n", + " #Abnormal alpha-aminobutyrate levels in cerebrospinal fluid\n", + " definition of HP:0500247 (Abnormal CSF alpha-aminobutyrate concentration)\n", + " \n", + " \n", + " Areflexia\n", + " definition of HP:0001284 (Areflexia)\n", + " \n", + " \n", + " Absence of neurologic reflexes such as the knee-jerk reaction.\n", + " definition of HP:0001284 (Areflexia)\n", + " \n", + " \n", + " #Absent deep tendon reflexes #Absent tendon reflexes #Deep tendon reflexes absent #Loss of deep tendon reflexes #Lost deep tendon reflexes\n", + " definition of HP:0001284 (Areflexia)\n", + " \n", + " \n", + " Hypoplasia of latissimus dorsi muscle\n", + " definition of HP:0009026 (Hypoplasia of latissimus dorsi muscle)\n", + " \n", + " \n", + " Underdevelopment of the latissimus dorsi muscle, which is involved in adduction, extension, internal rotation, and transverse extension of the shoulder and assists in movement of the scapula.\n", + " definition of HP:0009026 (Hypoplasia of latissimus dorsi muscle)\n", + " \n", + " \n", + " Arcuate vein medial hypertrophy\n", + " definition of HP:0033909 (Arcuate vein medial hypertrophy)\n", + " \n", + " \n", + " Increased thickness of middle layer of the arcuate veins of the kidney.\n", + " definition of HP:0033909 (Arcuate vein medial hypertrophy)\n", + " \n", + " \n", + " #Medial hypertrophy within arcuate veins\n", + " definition of HP:0033909 (Arcuate vein medial hypertrophy)\n", + " \n", + " \n", + " Elevated circulating C-terminal fibroblast growth factor 23 concentration\n", + " definition of HP:6000755 (Elevated circulating C-terminal fibroblast growth factor 23 concentration)\n", + " \n", + " \n", + " The concentration of the C-terminal portion of fibroblast growth factor 23 in the blood circulation is outside of the limits of normal.\n", + " definition of HP:6000755 (Elevated circulating C-terminal fibroblast growth factor 23 concentration)\n", + " \n", + " \n", + " Cochlear degeneration\n", + " definition of HP:0005102 (Cochlear degeneration)\n", + " \n", + " \n", + " Deterioration or loss of the tissues of the cochlea.\n", + " definition of HP:0005102 (Cochlear degeneration)\n", + " \n", + " \n", + " #Progressive cochlear degeneration\n", + " definition of HP:0005102 (Cochlear degeneration)\n", + " \n", + " \n", + " Abnormal KCO\n", + " definition of HP:0033372 (Abnormal KCO)\n", + " \n", + " \n", + " Any deviation from the normal range of KCO. The KCO is a measurement of the rate constant for alveolar uptake of CO during breath-holding in the single breath measurement of DLCO at full inflation. The DLCO is derived as the product of the KCO and the single breath alveolar volume (VA) divided by PB-PH2O.\n", + " definition of HP:0033372 (Abnormal KCO)\n", + " \n", + " \n", + " Purulent sputum\n", + " definition of HP:0034777 (Purulent sputum)\n", + " \n", + " \n", + " Sputum contains pus.\n", + " definition of HP:0034777 (Purulent sputum)\n", + " \n", + " \n", + " Hypoplasia of proximal fibula\n", + " definition of HP:0006442 (Hypoplasia of proximal fibula)\n", + " \n", + " \n", + " Underdevelopment or shortening of the end of the fibula (calf bone) nearest the knee.\n", + " definition of HP:0006442 (Hypoplasia of proximal fibula)\n", + " \n", + " \n", + " #Small innermost upper end of calf bone #Underdeveloped innermost upper end of calf bone\n", + " definition of HP:0006442 (Hypoplasia of proximal fibula)\n", + " \n", + " \n", + " Prolonged somatosensory evoked potentials\n", + " definition of HP:0007104 (Prolonged somatosensory evoked potentials)\n", + " \n", + " \n", + " Coccidioidomycosis\n", + " definition of HP:0032249 (Coccidioidomycosis)\n", + " \n", + " \n", + " Infection by a Coccidioides species fungus. These are dimorphic, soil-dwelling, fungi known to cause a broad spectrum of disease, ranging from a mild febrile illness to severe pulmonary manifestations or disseminated disease. The genus Coccidioides is comprised of two genetically distinct species: Coccidioides immitis and C. posadasii.\n", + " definition of HP:0032249 (Coccidioidomycosis)\n", + " \n", + " \n", + " #Valley fever\n", + " definition of HP:0032249 (Coccidioidomycosis)\n", + " \n", + " \n", + " Reduced lamina lucida anchoring filament density\n", + " definition of HP:0035001 (Reduced lamina lucida anchoring filament density)\n", + " \n", + " \n", + " Diminished amount of the anchoring filaments that normally bridge the lamina lucida and insert into the lamina densa in the cutaneous basement membrane zone.\n", + " definition of HP:0035001 (Reduced lamina lucida anchoring filament density)\n", + " \n", + " \n", + " Congenital lobar overinflation\n", + " definition of HP:0033255 (Congenital lobar overinflation)\n", + " \n", + " \n", + " A congenital malformation characterized by an overdistended segment of lung, affecting an party of a lobe or the entire one. It results in progressive overinflation of one or more lobes.\n", + " definition of HP:0033255 (Congenital lobar overinflation)\n", + " \n", + " \n", + " #Congenital lobar emphysema\n", + " definition of HP:0033255 (Congenital lobar overinflation)\n", + " \n", + " \n", + " Music-induced seizure\n", + " definition of HP:0032896 (Music-induced seizure)\n", + " \n", + " \n", + " Seizure precipitated by listening to music or other complex sounds.\n", + " definition of HP:0032896 (Music-induced seizure)\n", + " \n", + " \n", + " Supratentorial neoplasm\n", + " definition of HP:0030693 (Supratentorial neoplasm)\n", + " \n", + " \n", + " A benign or malignant neoplasm that occurs within the intracranial cavity above the tentorium cerebelli.\n", + " definition of HP:0030693 (Supratentorial neoplasm)\n", + " \n", + " \n", + " #Pineal parenchymal tumor #Pineal parenchymal tumour\n", + " definition of HP:0030693 (Supratentorial neoplasm)\n", + " \n", + " \n", + " Lower limb spasticity\n", + " definition of HP:0002061 (Lower limb spasticity)\n", + " \n", + " \n", + " Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis.\n", + " definition of HP:0002061 (Lower limb spasticity)\n", + " \n", + " \n", + " #Lower extremities spasticity #Lower extremity spasticity #Spastic lower extremities #Spastic lower extremity #Spastic lower limb #Spastic lower limbs #Spasticity in lower extremities #Spasticity in lower extremity #Spasticity in lower limb #Spasticity in lower limbs #Spasticity of lower extremities #Spasticity of lower extremity #Spasticity of lower limb #Spasticity of lower limbs\n", + " definition of HP:0002061 (Lower limb spasticity)\n", + " \n", + " \n", + " Asynergia\n", + " definition of HP:0010869 (Asynergia)\n", + " \n", + " \n", + " A type of dyssynergy characterized by the lack of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed.\n", + " definition of HP:0010869 (Asynergia)\n", + " \n", + " \n", + " Impaired ADP-induced platelet aggregation\n", + " definition of HP:0004866 (Impaired ADP-induced platelet aggregation)\n", + " \n", + " \n", + " Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP.\n", + " definition of HP:0004866 (Impaired ADP-induced platelet aggregation)\n", + " \n", + " \n", + " Vacuolated lymphocytes\n", + " definition of HP:0001922 (Vacuolated lymphocytes)\n", + " \n", + " \n", + " The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm.\n", + " definition of HP:0001922 (Vacuolated lymphocytes)\n", + " \n", + " \n", + " #Enlarged lysosomal vacuoles in lymphocytes #Vacuolated blood lymphocytes\n", + " definition of HP:0001922 (Vacuolated lymphocytes)\n", + " \n", + " \n", + " Bifid clitoris\n", + " definition of HP:0030911 (Bifid clitoris)\n", + " \n", + " \n", + " Two clitorides located side by side.\n", + " definition of HP:0030911 (Bifid clitoris)\n", + " \n", + " \n", + " Abnormal circulating heparan sulfate level\n", + " definition of HP:0410341 (Abnormal circulating heparan sulfate level)\n", + " \n", + " \n", + " An abnormal level of heparan sulfate in the blood.\n", + " definition of HP:0410341 (Abnormal circulating heparan sulfate level)\n", + " \n", + " \n", + " #Abnormal circulating heparan sulphate level #Abnormality of the concentration of heparan sulfate in the blood #Abnormality of the concentration of heparan sulphate in the blood\n", + " definition of HP:0410341 (Abnormal circulating heparan sulfate level)\n", + " \n", + " \n", + " Giant conjunctival papillae\n", + " definition of HP:0025350 (Giant conjunctival papillae)\n", + " \n", + " \n", + " Conjunctival papillae with a diameter greater than 1 millimeter. They characteristically have flattened tops which sometimes demonstrate staining with fluorescein.\n", + " definition of HP:0025350 (Giant conjunctival papillae)\n", + " \n", + " \n", + " Midclavicular hypoplasia\n", + " definition of HP:0006608 (Midclavicular hypoplasia)\n", + " \n", + " \n", + " Underdevelopment of the middle portion of the clavicle.\n", + " definition of HP:0006608 (Midclavicular hypoplasia)\n", + " \n", + " \n", + " #Underdeveloped middle portion of the collarbone\n", + " definition of HP:0006608 (Midclavicular hypoplasia)\n", + " \n", + " \n", + " Seminal vesicle cyst\n", + " definition of HP:6000191 (Seminal vesicle cyst)\n", + " \n", + " \n", + " A cyst (sac-like mass that may contain serous liquid or semisolid material) caused by distention of the seminal vesicle due to atresia of the ejaculatory duct.\n", + " definition of HP:6000191 (Seminal vesicle cyst)\n", + " \n", + " \n", + " Abnormal circulating interferon concentration\n", + " definition of HP:0011116 (Abnormal circulating interferon concentration)\n", + " \n", + " \n", + " The concentration of an interferon is outside the limits of normal.\n", + " definition of HP:0011116 (Abnormal circulating interferon concentration)\n", + " \n", + " \n", + " #Abnormal serum interferon level #Abnormality of interferon secretion\n", + " definition of HP:0011116 (Abnormal circulating interferon concentration)\n", + " \n", + " \n", + " Abnormal number of hair whorls\n", + " definition of HP:0010813 (Abnormal number of hair whorls)\n", + " \n", + " \n", + " More than two clockwise hair whorls.\n", + " definition of HP:0010813 (Abnormal number of hair whorls)\n", + " \n", + " \n", + " #Abnormal number of hair swirls #Abnormal number of hair whorls #Double crown (hair whorls) #Extra hair swirls #Extra hair whorl #Supernumary hair swirls #Supernumary hair whorl\n", + " definition of HP:0010813 (Abnormal number of hair whorls)\n", + " \n", + " \n", + " Multiple bladder diverticula\n", + " definition of HP:0012619 (Multiple bladder diverticula)\n", + " \n", + " \n", + " Presence of a many diverticula (sac or pouch) in the wall of the urinary bladder.\n", + " definition of HP:0012619 (Multiple bladder diverticula)\n", + " \n", + " \n", + " #Multiple pouches in bladder wall\n", + " definition of HP:0012619 (Multiple bladder diverticula)\n", + " \n", + " \n", + " Triggered by dehydration\n", + " definition of HP:0025207 (Triggered by dehydration)\n", + " \n", + " \n", + " Applies to a sign or symptom that is provoked or brought about by being dehydrated, i.e., by a deficit in total body water.\n", + " definition of HP:0025207 (Triggered by dehydration)\n", + " \n", + " \n", + " #Dehydration triggered symptoms #Triggered by dehydration\n", + " definition of HP:0025207 (Triggered by dehydration)\n", + " \n", + " \n", + " Hypernatriuria\n", + " definition of HP:0012605 (Hypernatriuria)\n", + " \n", + " \n", + " An increased concentration of sodium(1+) in the urine.\n", + " definition of HP:0012605 (Hypernatriuria)\n", + " \n", + " \n", + " #Increased urinary sodium\n", + " definition of HP:0012605 (Hypernatriuria)\n", + " \n", + " \n", + " Fusion of midcervical facet joints\n", + " definition of HP:0004575 (Fusion of midcervical facet joints)\n", + " \n", + " \n", + " Progressive spastic paraplegia\n", + " definition of HP:0007020 (Progressive spastic paraplegia)\n", + " \n", + " \n", + " Overvalued idea\n", + " definition of HP:5200402 (Overvalued idea)\n", + " \n", + " \n", + " A solitary belief that may be held by others in the society that is maintained by the person to an abnormal and morbid degree and overtly drives behaviors that are considered unhealthy, intrusive, or illegal. This includes fads and cults that the person may adhere to and practice to a morbid degree. The content may vary and ranges from religion, health, romance, or politics.\n", + " definition of HP:5200402 (Overvalued idea)\n", + " \n", + " \n", + " #Overvalued ideas\n", + " definition of HP:5200402 (Overvalued idea)\n", + " \n", + " \n", + " Compensatory head posture\n", + " definition of HP:0031705 (Compensatory head posture)\n", + " \n", + " \n", + " A compensatory head posture occurs when the head is deviated out of the normal primary straight head position in order to compensate for an ocular problem.\n", + " definition of HP:0031705 (Compensatory head posture)\n", + " \n", + " \n", + " Hyporeflexia of upper limbs\n", + " definition of HP:0012391 (Hyporeflexia of upper limbs)\n", + " \n", + " \n", + " Reduced intensity of muscle tendon reflexes in the upper limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping.\n", + " definition of HP:0012391 (Hyporeflexia of upper limbs)\n", + " \n", + " \n", + " Abnormal fifth cranial nerve morphology\n", + " definition of HP:0010824 (Abnormal fifth cranial nerve morphology)\n", + " \n", + " \n", + " Any structural abnormality of the fifth cranial nerve.\n", + " definition of HP:0010824 (Abnormal fifth cranial nerve morphology)\n", + " \n", + " \n", + " #Abnormal trigeminal nerve morphology #Abnormality of the fifth cranial nerve #Abnormality of the nervus trigeminus\n", + " definition of HP:0010824 (Abnormal fifth cranial nerve morphology)\n", + " \n", + " \n", + " Fractured distal tarsal bone 2\n", + " definition of HP:0041227 (Fractured distal tarsal bone 2)\n", + " \n", + " \n", + " A partial or complete breakage of the distal tarsal bone 2.\n", + " definition of HP:0041227 (Fractured distal tarsal bone 2)\n", + " \n", + " \n", + " #bone distal tarsal bone 2\n", + " definition of HP:0041227 (Fractured distal tarsal bone 2)\n", + " \n", + " \n", + " Abnormal morphology of the limbic system\n", + " definition of HP:0007343 (Abnormal morphology of the limbic system)\n", + " \n", + " \n", + " Any structural anomaly of the limbic system, a set of midline structures surrounding the brainstem of the mammalian brain, originally described anatomically, e.g., hippocampal formation, amygdala, hypothalamus, cingulate cortex. Although the original designation was anatomical, the limbic system has come to be associated with the system in the brain subserving emotional functions. As such, it is very poorly defined and doesn't correspond closely to the anatomical meaning any longer. [BirnLex].\n", + " definition of HP:0007343 (Abnormal morphology of the limbic system)\n", + " \n", + " \n", + " #Limbic malformation\n", + " definition of HP:0007343 (Abnormal morphology of the limbic system)\n", + " \n", + " \n", + " Knee extension contracture\n", + " definition of HP:0034672 (Knee extension contracture)\n", + " \n", + " \n", + " A type of knee joint contracture in which the knee lacks full expected flexion, such that the upper and lower leg cannot be brought together.\n", + " definition of HP:0034672 (Knee extension contracture)\n", + " \n", + " \n", + " Lipomas of eyelids\n", + " definition of HP:0040164 (Lipomas of eyelids)\n", + " \n", + " \n", + " Fatty tumors on the eyelids.\n", + " definition of HP:0040164 (Lipomas of eyelids)\n", + " \n", + " \n", + " #Fatty tumors on the eyelids #Fatty tumours on the eyelids\n", + " definition of HP:0040164 (Lipomas of eyelids)\n", + " \n", + " \n", + " Abnormal circulating amino acid concentration\n", + " definition of HP:0003112 (Abnormal circulating amino acid concentration)\n", + " \n", + " \n", + " The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation.\n", + " definition of HP:0003112 (Abnormal circulating amino acid concentration)\n", + " \n", + " \n", + " #Abnormality of serum amino acid level #Abnormality of serum amino acid levels\n", + " definition of HP:0003112 (Abnormal circulating amino acid concentration)\n", + " \n", + " \n", + " Short proximal phalanx of the 2nd toe\n", + " definition of HP:0010437 (Short proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Reduced length of the proximal phalanx of second toe as a result of developmental hypoplasia.\n", + " definition of HP:0010437 (Short proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Hypoplastic/small proximal phalanx of the 2nd toe #Short innermost 2nd toe bone #Short proximal phalanx of the second toe\n", + " definition of HP:0010437 (Short proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Cyanotic episode\n", + " definition of HP:0200048 (Cyanotic episode)\n", + " \n", + " \n", + " Abnormal hypopharynx morphology\n", + " definition of HP:3000053 (Abnormal hypopharynx morphology)\n", + " \n", + " \n", + " A structural anomaly of the hypopharyx, which is the most inferior portion of the pharynx. The hypopharynx continues from the oropharynx at the pharyngoepiglottic fold superiorly and extends inferiorly to the level of the inferior aspect of the cricoid cartilage, which marks the beginning of the cervical esophagus.\n", + " definition of HP:3000053 (Abnormal hypopharynx morphology)\n", + " \n", + " \n", + " #Abnormality of hypopharynx #Abnormality of lower pharynx\n", + " definition of HP:3000053 (Abnormal hypopharynx morphology)\n", + " \n", + " \n", + " Sweaty foot-like odor\n", + " definition of HP:6001063 (Sweaty foot-like odor)\n", + " \n", + " \n", + " A characteristic smell said to resemble the odor of dirty socks.\n", + " definition of HP:6001063 (Sweaty foot-like odor)\n", + " \n", + " \n", + " Cervical neoplasm\n", + " definition of HP:0032241 (Cervical neoplasm)\n", + " \n", + " \n", + " A tumor (abnormal growth of tissue) of the uterine cervix.\n", + " definition of HP:0032241 (Cervical neoplasm)\n", + " \n", + " \n", + " Crimped helix\n", + " definition of HP:0011262 (Crimped helix)\n", + " \n", + " \n", + " Linear, circumferential indentation in the convexity of the outer surface of the helix.\n", + " definition of HP:0011262 (Crimped helix)\n", + " \n", + " \n", + " #Helix, crimped #Indented helix\n", + " definition of HP:0011262 (Crimped helix)\n", + " \n", + " \n", + " Abnormal circulating enzyme concentration\n", + " definition of HP:0011021 (Abnormal circulating enzyme concentration)\n", + " \n", + " \n", + " The concentration or activity of an enzyme in the blood circulation is outside of the limits of the normal range.\n", + " definition of HP:0011021 (Abnormal circulating enzyme concentration)\n", + " \n", + " \n", + " #Abnormality of circulating enzyme level\n", + " definition of HP:0011021 (Abnormal circulating enzyme concentration)\n", + " \n", + " \n", + " Triangular epiphysis of the middle phalanx of the 2nd finger\n", + " definition of HP:0009523 (Triangular epiphysis of the middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Triangular end part of the middle bone of the index finger\n", + " definition of HP:0009523 (Triangular epiphysis of the middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " Complete cleft soft palate\n", + " definition of HP:5201005 (Complete cleft soft palate)\n", + " \n", + " \n", + " Cleft soft palate in which the cleft goes through the entire length of the soft palate, i.e. from the posterior border of the hard palate until the uvula.\n", + " definition of HP:5201005 (Complete cleft soft palate)\n", + " \n", + " \n", + " Macular exudate\n", + " definition of HP:0030496 (Macular exudate)\n", + " \n", + " \n", + " Yellow-white intraretinal deposits in the macula typically associated with damaged outer blood-retina barrier and exudation of serous fluid and lipids from the retinal microvasculature.\n", + " definition of HP:0030496 (Macular exudate)\n", + " \n", + " \n", + " #Macular exudates #Macular exudation\n", + " definition of HP:0030496 (Macular exudate)\n", + " \n", + " \n", + " Aplasia of the phalanges of the hallux\n", + " definition of HP:0010110 (Aplasia of the phalanges of the hallux)\n", + " \n", + " \n", + " #Absent bone of big toe\n", + " definition of HP:0010110 (Aplasia of the phalanges of the hallux)\n", + " \n", + " \n", + " Rhegmatogenous retinal detachment\n", + " definition of HP:0012230 (Rhegmatogenous retinal detachment)\n", + " \n", + " \n", + " A type of retinal detachment associated with a retinal tear, that is, with a break in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium.\n", + " definition of HP:0012230 (Rhegmatogenous retinal detachment)\n", + " \n", + " \n", + " Aortic annulus calcification\n", + " definition of HP:0033538 (Aortic annulus calcification)\n", + " \n", + " \n", + " Pathological deposition of calcium salts in the aortic annulus, a fibrous ring-like structure found at the insertion point of the basal attachments of the aortic valve leaflets within the left ventricular outflow tract.\n", + " definition of HP:0033538 (Aortic annulus calcification)\n", + " \n", + " \n", + " #Aortic annular calcification\n", + " definition of HP:0033538 (Aortic annulus calcification)\n", + " \n", + " \n", + " Tenesmus\n", + " definition of HP:0012702 (Tenesmus)\n", + " \n", + " \n", + " A repeated, painful urge to defecate without excreting stool.\n", + " definition of HP:0012702 (Tenesmus)\n", + " \n", + " \n", + " Anti-class II HLA antibody positivity\n", + " definition of HP:0034018 (Anti-class II HLA antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a class II human leukocyte antigen (HLA). Class I HLA corresponds to MHC class II (DP, DM, DO, DQ, and DR).\n", + " definition of HP:0034018 (Anti-class II HLA antibody positivity)\n", + " \n", + " \n", + " Focal aware emotional seizure with paranoia\n", + " definition of HP:0032741 (Focal aware emotional seizure with paranoia)\n", + " \n", + " \n", + " Focal emotional seizure with paranoia in which awareness is retained throughout.\n", + " definition of HP:0032741 (Focal aware emotional seizure with paranoia)\n", + " \n", + " \n", + " Abnormal vertebral pedicle morphology\n", + " definition of HP:0030277 (Abnormal vertebral pedicle morphology)\n", + " \n", + " \n", + " Abnormal morphology of a vertebral pedical.\n", + " definition of HP:0030277 (Abnormal vertebral pedicle morphology)\n", + " \n", + " \n", + " Anal mucosal leukoplakia\n", + " definition of HP:0005212 (Anal mucosal leukoplakia)\n", + " \n", + " \n", + " Leukoplakia is a precancerous dermatosis of mucous membranes analogous Leukoplakia is basically a chronic inflammatory hypertrophy in which anaplasia and malignant dyskeratosis may develop and subsequently advance to an invasive squamous cell cancer. The clinical diagnosis of primary anal leukoplakia is indicated by single or multiple slightly raised,irregular, marginated, grayish-white keratinized' patches in the anal canal. Tissue biopsy is necessary for confirmation.\n", + " definition of HP:0005212 (Anal mucosal leukoplakia)\n", + " \n", + " \n", + " Brown tumor\n", + " definition of HP:6000089 (Brown tumor)\n", + " \n", + " \n", + " A brown tumor is a bone lesion that results from bony resorption by excess osteoclastic activity, and replacement by fibrous tissue and giant cells. Brown tumor is an uncommon pathognomonic sign of hyperparathyroidism.\n", + " definition of HP:6000089 (Brown tumor)\n", + " \n", + " \n", + " #Osteitis fibrosa cystica\n", + " definition of HP:6000089 (Brown tumor)\n", + " \n", + " \n", + " Reduced branched-chain alpha-keto acid dehydrogenase activity in cultured fibroblasts\n", + " definition of HP:4000207 (Reduced branched-chain alpha-keto acid dehydrogenase activity in cultured fibroblasts)\n", + " \n", + " \n", + " Activity of branched-chain alpha-keto acid dehydrogenase complex (EC 1.2.4.4) below the lower limit of normal in cultured fibroblasts.\n", + " definition of HP:4000207 (Reduced branched-chain alpha-keto acid dehydrogenase activity in cultured fibroblasts)\n", + " \n", + " \n", + " Abnormal greater palatine artery morphology\n", + " definition of HP:3000049 (Abnormal greater palatine artery morphology)\n", + " \n", + " \n", + " An abnormality of a greater palatine artery.\n", + " definition of HP:3000049 (Abnormal greater palatine artery morphology)\n", + " \n", + " \n", + " #Abnormality of greater palatine artery\n", + " definition of HP:3000049 (Abnormal greater palatine artery morphology)\n", + " \n", + " \n", + " Abnormal choroid plexus morphology\n", + " definition of HP:0007376 (Abnormal choroid plexus morphology)\n", + " \n", + " \n", + " An abnormality of the choroid plexus, which is the area in the cerebral ventricles in which cerebrospinal fluid is produced by modified ependymal cells.\n", + " definition of HP:0007376 (Abnormal choroid plexus morphology)\n", + " \n", + " \n", + " Failure to thrive secondary to recurrent infections\n", + " definition of HP:0008866 (Failure to thrive secondary to recurrent infections)\n", + " \n", + " \n", + " Insufficient weight gain or inappropriate weight loss for a child, that is attributed to an endogenous recurrent infections.\n", + " definition of HP:0008866 (Failure to thrive secondary to recurrent infections)\n", + " \n", + " \n", + " #Faltering weight secondary to recurrent infections #Weight faltering secondary to recurrent infections\n", + " definition of HP:0008866 (Failure to thrive secondary to recurrent infections)\n", + " \n", + " \n", + " Medium chain dicarboxylic aciduria\n", + " definition of HP:0008309 (Medium chain dicarboxylic aciduria)\n", + " \n", + " \n", + " An increase in the level of medium chain dicarboxylic acid in the urine.\n", + " definition of HP:0008309 (Medium chain dicarboxylic aciduria)\n", + " \n", + " \n", + " Whole-immunoglobulin paraproteinemia\n", + " definition of HP:0031050 (Whole-immunoglobulin paraproteinemia)\n", + " \n", + " \n", + " An abnormal immunoglobulin (heavy and light chain) in the circulation and typically produced by a clonal population of B-cell derived plasma cells.\n", + " definition of HP:0031050 (Whole-immunoglobulin paraproteinemia)\n", + " \n", + " \n", + " Fordyce angiokeratoma\n", + " definition of HP:0034409 (Fordyce angiokeratoma)\n", + " \n", + " \n", + " A type of angiokeratoma that most commonly occurs on the scrotum of patients who are 40 years old or older. The typical single lesion is a dark red to blue dome-shaped papule 2-4 mm in diameter with a very discrete keratotic surface. Typically, they are multiple and arranged in a line parallel to the raphe mediana of the scrotum. They also occur on the vulva and less commnly on the penis.\n", + " definition of HP:0034409 (Fordyce angiokeratoma)\n", + " \n", + " \n", + " Clubbing of toes\n", + " definition of HP:0100760 (Clubbing of toes)\n", + " \n", + " \n", + " Terminal broadening of the toes (distal phalanges of the toes).\n", + " definition of HP:0100760 (Clubbing of toes)\n", + " \n", + " \n", + " Dislocated radial head\n", + " definition of HP:0003083 (Dislocated radial head)\n", + " \n", + " \n", + " A dislocation of the head of the radius from its socket in the elbow joint.\n", + " definition of HP:0003083 (Dislocated radial head)\n", + " \n", + " \n", + " #Congenital radial head dislocation #Dislocated radius #Dislocation of radial head #Dislocation of the radial head #Radial dislocation #Radial head dislocation #Radial head dislocation/subluxation\n", + " definition of HP:0003083 (Dislocated radial head)\n", + " \n", + " \n", + " Salivary gland oncocytoma\n", + " definition of HP:0031523 (Salivary gland oncocytoma)\n", + " \n", + " \n", + " A benign epithelial neoplasm composed of layers of oncocytes (small round nucleus, micro-granular, eosinophilic cytoplasm with numerous tightly-packed mitochondria)\n", + " definition of HP:0031523 (Salivary gland oncocytoma)\n", + " \n", + " \n", + " Duplication of proximal phalanx of toe\n", + " definition of HP:0010211 (Duplication of proximal phalanx of toe)\n", + " \n", + " \n", + " Partial/complete duplication of a proximal phalanx of toe.\n", + " definition of HP:0010211 (Duplication of proximal phalanx of toe)\n", + " \n", + " \n", + " #Duplication of innermost toe bones #Partial/complete duplication of the proximal phalanges of the toes\n", + " definition of HP:0010211 (Duplication of proximal phalanx of toe)\n", + " \n", + " \n", + " Medulloepithelioma\n", + " definition of HP:0030071 (Medulloepithelioma)\n", + " \n", + " \n", + " A primitive neuroectodermal tumor that originates from the cells of the embryonic medullary canal.\n", + " definition of HP:0030071 (Medulloepithelioma)\n", + " \n", + " \n", + " Subpleural interstitial thickening\n", + " definition of HP:0025178 (Subpleural interstitial thickening)\n", + " \n", + " \n", + " Increase in thickness of the subpleural interstitium.\n", + " definition of HP:0025178 (Subpleural interstitial thickening)\n", + " \n", + " \n", + " #Subpleural scarring\n", + " definition of HP:0025178 (Subpleural interstitial thickening)\n", + " \n", + " \n", + " Profound static encephalopathy\n", + " definition of HP:0007069 (Profound static encephalopathy)\n", + " \n", + " \n", + " Ingrown nail\n", + " definition of HP:0012710 (Ingrown nail)\n", + " \n", + " \n", + " Excessive growth of a nail laterally into the nail fold.\n", + " definition of HP:0012710 (Ingrown nail)\n", + " \n", + " \n", + " #Ingrown nail\n", + " definition of HP:0012710 (Ingrown nail)\n", + " \n", + " \n", + " Elevated circulating C4 acylcarnitine concentration\n", + " definition of HP:0035016 (Elevated circulating C4 acylcarnitine concentration)\n", + " \n", + " \n", + " Concentration of C4 acylcarnitines in the blood circulation above the upper limit of normal. C4 acylcarnitines have a four-carbon acyl chain.\n", + " definition of HP:0035016 (Elevated circulating C4 acylcarnitine concentration)\n", + " \n", + " \n", + " Non-pitting edema\n", + " definition of HP:6000507 (Non-pitting edema)\n", + " \n", + " \n", + " Non-pitting edema occurs when excess fluid builds up in the body causing swelling that does not indent when pressure is applied. It usually occurs in the limbs, and often results from underlying medical conditions affecting lymphatic system function.\n", + " definition of HP:6000507 (Non-pitting edema)\n", + " \n", + " \n", + " Patchy sclerosis of the proximal phalanx of the 4th finger\n", + " definition of HP:0009313 (Patchy sclerosis of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " Uneven (irregular) increase in bone density of the proximal phalanx of the fourth finger.\n", + " definition of HP:0009313 (Patchy sclerosis of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " #Uneven increase in bone density in the innermost bone of the ring finger\n", + " definition of HP:0009313 (Patchy sclerosis of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " Broad distal phalanx of the 3rd toe\n", + " definition of HP:0100431 (Broad distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Broad outermost bone of the 3rd toe #Wide outermost bone of the 3rd toe\n", + " definition of HP:0100431 (Broad distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Heavy proteinuria\n", + " definition of HP:0012597 (Heavy proteinuria)\n", + " \n", + " \n", + " Severely increased levels of protein in the urine (1000-3000 mg per day in adults).\n", + " definition of HP:0012597 (Heavy proteinuria)\n", + " \n", + " \n", + " #Severely high blood protein levels\n", + " definition of HP:0012597 (Heavy proteinuria)\n", + " \n", + " \n", + " Reduced insulin like growth factor binding protein acid labile subunit concentration\n", + " definition of HP:0045046 (Reduced insulin like growth factor binding protein acid labile subunit concentration)\n", + " \n", + " \n", + " An abnormally decreased concentration of insulin like growth factor binding protein acid labile subunit level in the blood circulation.\n", + " definition of HP:0045046 (Reduced insulin like growth factor binding protein acid labile subunit concentration)\n", + " \n", + " \n", + " #Acid-labile subunit deficiency #Decreased levels of acid labile subunit #Reduced insulin like growth factor binding protein acid labile subunit level\n", + " definition of HP:0045046 (Reduced insulin like growth factor binding protein acid labile subunit concentration)\n", + " \n", + " \n", + " Hypoplasia of the odontoid process\n", + " definition of HP:0003311 (Hypoplasia of the odontoid process)\n", + " \n", + " \n", + " Developmental hypoplasia of the dens of the axis.\n", + " definition of HP:0003311 (Hypoplasia of the odontoid process)\n", + " \n", + " \n", + " #Hypoplastic odontoid process #Odontoid hypoplasia #Small odontoid peg #Small odontoid process\n", + " definition of HP:0003311 (Hypoplasia of the odontoid process)\n", + " \n", + " \n", + " Abnormality of the proximal humeral epiphysis\n", + " definition of HP:0010598 (Abnormality of the proximal humeral epiphysis)\n", + " \n", + " \n", + " Any abnormality of the proximal epiphysis of the humerus.\n", + " definition of HP:0010598 (Abnormality of the proximal humeral epiphysis)\n", + " \n", + " \n", + " #Abnormality of the end part of the innermost long bone in upper arm\n", + " definition of HP:0010598 (Abnormality of the proximal humeral epiphysis)\n", + " \n", + " \n", + " Howell-Jolly bodies\n", + " definition of HP:0032550 (Howell-Jolly bodies)\n", + " \n", + " \n", + " Howell-Jolly bodies are small, intra-erythrocytic remnants of erythrocyte nuclei. These inclusions are solitary in each erythrocyte and strongly basophilic. These are often confused with overlying platelets, but can be distinguished by the presence of a halo around overlying platelets.\n", + " definition of HP:0032550 (Howell-Jolly bodies)\n", + " \n", + " \n", + " Impaired toileting ability\n", + " definition of HP:0031061 (Impaired toileting ability)\n", + " \n", + " \n", + " This term applies to an individual who requires help transferring to the toilet, cleaning self or who uses bedpan or commode.\n", + " definition of HP:0031061 (Impaired toileting ability)\n", + " \n", + " \n", + " Cerebellar ataxia associated with quadrupedal gait\n", + " definition of HP:0009878 (Cerebellar ataxia associated with quadrupedal gait)\n", + " \n", + " \n", + " The presence of cerebellar signs and symptoms such as lack of balance associated with quadrupedal gait (locomotion on all four extremities with a 'bear-like' gait with the legs held straight).\n", + " definition of HP:0009878 (Cerebellar ataxia associated with quadrupedal gait)\n", + " \n", + " \n", + " Iris nodule\n", + " definition of HP:0034819 (Iris nodule)\n", + " \n", + " \n", + " The presence of a nodule (small rounded lump of tissue) in the iris.\n", + " definition of HP:0034819 (Iris nodule)\n", + " \n", + " \n", + " Thin upper lip vermilion\n", + " definition of HP:0000219 (Thin upper lip vermilion)\n", + " \n", + " \n", + " Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).\n", + " definition of HP:0000219 (Thin upper lip vermilion)\n", + " \n", + " \n", + " #Decreased height of upper lip vermilion #Decreased volume of upper lip #Decreased volume of upper lip vermilion #Thin upper lip #Thin vermilion border of upper lip\n", + " definition of HP:0000219 (Thin upper lip vermilion)\n", + " \n", + " \n", + " Glomerular pseudocrescent\n", + " definition of HP:0033266 (Glomerular pseudocrescent)\n", + " \n", + " \n", + " Visceral epithelial cell hyperplasia with resulting cellular crowding of the the urinary space. In contrast with true crescents, these proliferations lack inflammatory cells and fibrin. The cells are typically plump (not spindle-shaped) and often vacuolated, and Bowman's capsule is usually intact.\n", + " definition of HP:0033266 (Glomerular pseudocrescent)\n", + " \n", + " \n", + " Elevated circulating alpha-fetoprotein concentration\n", + " definition of HP:0006254 (Elevated circulating alpha-fetoprotein concentration)\n", + " \n", + " \n", + " Concentration of alpha-fetoprotein in the blood circulation above the upper limit of normal.\n", + " definition of HP:0006254 (Elevated circulating alpha-fetoprotein concentration)\n", + " \n", + " \n", + " #Increased levels of alpha fetoprotein #Increased serum alpha-fetoprotein #Serum alpha-fetoprotein increased\n", + " definition of HP:0006254 (Elevated circulating alpha-fetoprotein concentration)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the middle phalanx of the 5th toe\n", + " definition of HP:0100374 (Aplasia/Hypoplasia of the middle phalanx of the 5th toe)\n", + " \n", + " \n", + " #Absent/small middle 5th toe bone #Absent/underdeveloped middle bone of little toe #Absent/underdeveloped middle bone of pinkie toe #Absent/underdeveloped middle bone of pinky toe\n", + " definition of HP:0100374 (Aplasia/Hypoplasia of the middle phalanx of the 5th toe)\n", + " \n", + " \n", + " Increased sialylation of N-linked protein glycosylation\n", + " definition of HP:0012351 (Increased sialylation of N-linked protein glycosylation)\n", + " \n", + " \n", + " Increased addition of sialic acids to N-linked glycans.\n", + " definition of HP:0012351 (Increased sialylation of N-linked protein glycosylation)\n", + " \n", + " \n", + " Short distal phalanx of the 2nd finger\n", + " definition of HP:0009566 (Short distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Hypoplasia (congenital reduction in size) of the distal phalanx of the second finger.\n", + " definition of HP:0009566 (Short distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Hypoplastic terminal index finger phalanx #Hypoplastic/small distal phalanx of the 2nd finger #Short distal phalanx of the second finger #Short outermost bone of the index finger #Short terminal index finger phalanx\n", + " definition of HP:0009566 (Short distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " EEG with hyperventilation-induced generalized epileptiform discharges\n", + " definition of HP:0011184 (EEG with hyperventilation-induced generalized epileptiform discharges)\n", + " \n", + " \n", + " Generalized epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).\n", + " definition of HP:0011184 (EEG with hyperventilation-induced generalized epileptiform discharges)\n", + " \n", + " \n", + " #EEG with hyperventilation-induced generalised epileptiform discharges\n", + " definition of HP:0011184 (EEG with hyperventilation-induced generalized epileptiform discharges)\n", + " \n", + " \n", + " Primary hyperparathyroidism\n", + " definition of HP:0008200 (Primary hyperparathyroidism)\n", + " \n", + " \n", + " A type of hyperparathyroidism caused by a primary abnormality of the parathyroid glands (e.g., adenoma, carcinoma, hyperplasia). Primary hyperparathyroidism is associated with hyercalcemia.\n", + " definition of HP:0008200 (Primary hyperparathyroidism)\n", + " \n", + " \n", + " Ivory epiphysis of the distal phalanx of the 4th toe\n", + " definition of HP:0100175 (Ivory epiphysis of the distal phalanx of the 4th toe)\n", + " \n", + " \n", + " #Increased bone density of end part of the outermost bone of the 4th toe\n", + " definition of HP:0100175 (Ivory epiphysis of the distal phalanx of the 4th toe)\n", + " \n", + " \n", + " Constrictive median neuropathy\n", + " definition of HP:0012185 (Constrictive median neuropathy)\n", + " \n", + " \n", + " Injury to the median nerve caused by its entrapment at the wrist as it traverses through the carpal tunnel. Clinically, constrictive median neuropathy is characterized by pain, paresthesia, and weakness in the median nerve distribution of the hand.\n", + " definition of HP:0012185 (Constrictive median neuropathy)\n", + " \n", + " \n", + " Sclerocornea\n", + " definition of HP:0000647 (Sclerocornea)\n", + " \n", + " \n", + " A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea.\n", + " definition of HP:0000647 (Sclerocornea)\n", + " \n", + " \n", + " #Hardening of skin and connective tissue\n", + " definition of HP:0000647 (Sclerocornea)\n", + " \n", + " \n", + " Increased laxity of ankles\n", + " definition of HP:0006460 (Increased laxity of ankles)\n", + " \n", + " \n", + " Scheuermann-like vertebral changes\n", + " definition of HP:0008478 (Scheuermann-like vertebral changes)\n", + " \n", + " \n", + " Geophagia\n", + " definition of HP:0025062 (Geophagia)\n", + " \n", + " \n", + " The practice of eating earth or soil-like substrates such as clay or chalk.\n", + " definition of HP:0025062 (Geophagia)\n", + " \n", + " \n", + " #Geophagy\n", + " definition of HP:0025062 (Geophagia)\n", + " \n", + " \n", + " Single atrioventricular valve regurgitation\n", + " definition of HP:0034377 (Single atrioventricular valve regurgitation)\n", + " \n", + " \n", + " Regurgitation of the single atrioventricular valve regurgitation (AVVR) in the context of a congenital heart defect with a single ventricle. Roughly three quarters of patients following Fontan procedure display AVVR.\n", + " definition of HP:0034377 (Single atrioventricular valve regurgitation)\n", + " \n", + " \n", + " Secondary amenorrhea\n", + " definition of HP:0000869 (Secondary amenorrhea)\n", + " \n", + " \n", + " #Previous menstrual periods stop\n", + " definition of HP:0000869 (Secondary amenorrhea)\n", + " \n", + " \n", + " Parasagittal parieto-occipital polymicrogyria\n", + " definition of HP:0032415 (Parasagittal parieto-occipital polymicrogyria)\n", + " \n", + " \n", + " Polymicrogyria in parasagittal and mesial aspects of parieto-occipital cortex.\n", + " definition of HP:0032415 (Parasagittal parieto-occipital polymicrogyria)\n", + " \n", + " \n", + " Increased circulating band cell count\n", + " definition of HP:0032239 (Increased circulating band cell count)\n", + " \n", + " \n", + " The number of band cells in the peripheral blood circulation is above the upper limit of normal. Band cells are immature neutrophils with a size of 10-18 micrometers, a horseshoe-shaped nucleus with no nucleoli, light-pink staining cytoplasm with many small secondary granules, and a nucleus:cytoplasm ratio of 1:2.\n", + " definition of HP:0032239 (Increased circulating band cell count)\n", + " \n", + " \n", + " #Increased circulating band form neutrophils #Left shift\n", + " definition of HP:0032239 (Increased circulating band cell count)\n", + " \n", + " \n", + " Abnormal vestibulo-ocular reflex\n", + " definition of HP:0007670 (Abnormal vestibulo-ocular reflex)\n", + " \n", + " \n", + " An abnormality of the vestibulo-ocular reflex (VOR). The VOR attempts to keep the image stable on the retina. Ideally passive or active head movements in one direction are compensated for by eye movements of equal magnitude.\n", + " definition of HP:0007670 (Abnormal vestibulo-ocular reflex)\n", + " \n", + " \n", + " #Abnormal vestibuloocular reflex\n", + " definition of HP:0007670 (Abnormal vestibulo-ocular reflex)\n", + " \n", + " \n", + " Neoplasm of the nail\n", + " definition of HP:0100826 (Neoplasm of the nail)\n", + " \n", + " \n", + " A tumor (abnormal growth of tissue) of the nail.\n", + " definition of HP:0100826 (Neoplasm of the nail)\n", + " \n", + " \n", + " #Nail tumor #Nail tumour\n", + " definition of HP:0100826 (Neoplasm of the nail)\n", + " \n", + " \n", + " Abnormal 4th metacarpal epiphysis morphology\n", + " definition of HP:0010224 (Abnormal 4th metacarpal epiphysis morphology)\n", + " \n", + " \n", + " Any abnormality of the epiphysis of the 4th metacarpal bone.\n", + " definition of HP:0010224 (Abnormal 4th metacarpal epiphysis morphology)\n", + " \n", + " \n", + " #Abnormality of the end part of the 4th long bone of hand #Abnormality of the epiphysis of the 4th metacarpal\n", + " definition of HP:0010224 (Abnormal 4th metacarpal epiphysis morphology)\n", + " \n", + " \n", + " Generalized myoclonic-atonic seizure\n", + " definition of HP:0011170 (Generalized myoclonic-atonic seizure)\n", + " \n", + " \n", + " A generalized myoclonic-atonic seizure is a type of generalized motor seizure characterized by a myoclonic jerk followed by an atonic motor component.\n", + " definition of HP:0011170 (Generalized myoclonic-atonic seizure)\n", + " \n", + " \n", + " #Generalised myoclonic-atonic seizure #Myoclonic atonic seizures #Myoclonic-astatic seizure\n", + " definition of HP:0011170 (Generalized myoclonic-atonic seizure)\n", + " \n", + " \n", + " Abnormality of the glabella\n", + " definition of HP:0002056 (Abnormality of the glabella)\n", + " \n", + " \n", + " An abnormality of the glabella.\n", + " definition of HP:0002056 (Abnormality of the glabella)\n", + " \n", + " \n", + " #Abnormality of the area between the eyebrows #Glabellar abnormality\n", + " definition of HP:0002056 (Abnormality of the glabella)\n", + " \n", + " \n", + " Slender build\n", + " definition of HP:0001533 (Slender build)\n", + " \n", + " \n", + " Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones.\n", + " definition of HP:0001533 (Slender build)\n", + " \n", + " \n", + " #Asthenic habitus #Slender build #Thin body habitus #Thin build\n", + " definition of HP:0001533 (Slender build)\n", + " \n", + " \n", + " Neurofibrosarcoma\n", + " definition of HP:0100697 (Neurofibrosarcoma)\n", + " \n", + " \n", + " A form of malignant cancer of the connective tissue surrounding nerves. Given its origin and behavior, it is classified as a sarcoma.\n", + " definition of HP:0100697 (Neurofibrosarcoma)\n", + " \n", + " \n", + " #Malignant peripheral nerve sheath tumor #Malignant peripheral nerve sheath tumour #Malignant schwannoma #Neurosarcoma\n", + " definition of HP:0100697 (Neurofibrosarcoma)\n", + " \n", + " \n", + " Absent zona pellucida\n", + " definition of HP:6000328 (Absent zona pellucida)\n", + " \n", + " \n", + " Lack of the oocyte extracellular matrix region (zona pellucida). This feature can be observed following follicular aspiration (retrieval of eggs for fertility treatments).\n", + " definition of HP:6000328 (Absent zona pellucida)\n", + " \n", + " \n", + " Hypersegmentation of proximal phalanx of second finger\n", + " definition of HP:0006206 (Hypersegmentation of proximal phalanx of second finger)\n", + " \n", + " \n", + " Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the second finger.\n", + " definition of HP:0006206 (Hypersegmentation of proximal phalanx of second finger)\n", + " \n", + " \n", + " Abnormal urinary sulfate concentration\n", + " definition of HP:0012612 (Abnormal urinary sulfate concentration)\n", + " \n", + " \n", + " Abnormal concentration of sulfate in the urine.\n", + " definition of HP:0012612 (Abnormal urinary sulfate concentration)\n", + " \n", + " \n", + " #Abnormal urinary sulphate concentration\n", + " definition of HP:0012612 (Abnormal urinary sulfate concentration)\n", + " \n", + " \n", + " Microscopic nephrocalcinosis\n", + " definition of HP:0008327 (Microscopic nephrocalcinosis)\n", + " \n", + " \n", + " The presence of microscopic crystalline calcium precipitates in the form of oxalate and/or phosphate in the renal parenchyma.\n", + " definition of HP:0008327 (Microscopic nephrocalcinosis)\n", + " \n", + " \n", + " Localized to upper eyelid\n", + " definition of HP:6000059 (Localized to upper eyelid)\n", + " \n", + " \n", + " Applies to an abnormality that is situated in the upper eyelid.\n", + " definition of HP:6000059 (Localized to upper eyelid)\n", + " \n", + " \n", + " Short palm\n", + " definition of HP:0004279 (Short palm)\n", + " \n", + " \n", + " Short palm.\n", + " definition of HP:0004279 (Short palm)\n", + " \n", + " \n", + " #Short palm\n", + " definition of HP:0004279 (Short palm)\n", + " \n", + " \n", + " Abnormal circulating GABA concentration\n", + " definition of HP:0034025 (Abnormal circulating GABA concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of gamma-aminobutyric acid (GABA) in the blood circulation.\n", + " definition of HP:0034025 (Abnormal circulating GABA concentration)\n", + " \n", + " \n", + " Cardiac neurofibroma\n", + " definition of HP:0034763 (Cardiac neurofibroma)\n", + " \n", + " \n", + " A neurofibroma (benign peripheral nerve sheath tumor) localized in the heart.\n", + " definition of HP:0034763 (Cardiac neurofibroma)\n", + " \n", + " \n", + " Ventricular hypertrophy\n", + " definition of HP:0001714 (Ventricular hypertrophy)\n", + " \n", + " \n", + " Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy.\n", + " definition of HP:0001714 (Ventricular hypertrophy)\n", + " \n", + " \n", + " Elevated circulating catecholamine level\n", + " definition of HP:0003334 (Elevated circulating catecholamine level)\n", + " \n", + " \n", + " An abnormal increase in catecholamine concentration in the blood.\n", + " definition of HP:0003334 (Elevated circulating catecholamine level)\n", + " \n", + " \n", + " Emotional lability\n", + " definition of HP:0000712 (Emotional lability)\n", + " \n", + " \n", + " Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances.\n", + " definition of HP:0000712 (Emotional lability)\n", + " \n", + " \n", + " #Emotional instability #Mood alterations #Mood changes #Mood lability #Mood swings\n", + " definition of HP:0000712 (Emotional lability)\n", + " \n", + " \n", + " Abnormal liver function tests during pregnancy\n", + " definition of HP:0200148 (Abnormal liver function tests during pregnancy)\n", + " \n", + " \n", + " #Abnormal liver function tests during pregnancy\n", + " definition of HP:0200148 (Abnormal liver function tests during pregnancy)\n", + " \n", + " \n", + " Focal substantia nigra T2 hyperintensity\n", + " definition of HP:0033249 (Focal substantia nigra T2 hyperintensity)\n", + " \n", + " \n", + " Hyperintense lesion in the substantia nigra on magnetic resonance T2 imaging.\n", + " definition of HP:0033249 (Focal substantia nigra T2 hyperintensity)\n", + " \n", + " \n", + " #Focal substantia nigra T2 hyperintense lesion\n", + " definition of HP:0033249 (Focal substantia nigra T2 hyperintensity)\n", + " \n", + " \n", + " Decreased galactosylation of N-linked protein glycosylation\n", + " definition of HP:0012348 (Decreased galactosylation of N-linked protein glycosylation)\n", + " \n", + " \n", + " A reduction in the amount of galactose residues of N-glycans.\n", + " definition of HP:0012348 (Decreased galactosylation of N-linked protein glycosylation)\n", + " \n", + " \n", + " Chorioretinitis\n", + " definition of HP:0012424 (Chorioretinitis)\n", + " \n", + " \n", + " An inflammation of the choroid and retina.\n", + " definition of HP:0012424 (Chorioretinitis)\n", + " \n", + " \n", + " Thin calvarium\n", + " definition of HP:0010539 (Thin calvarium)\n", + " \n", + " \n", + " The presence of an abnormally thin calvarium.\n", + " definition of HP:0010539 (Thin calvarium)\n", + " \n", + " \n", + " #Thin cranial bone\n", + " definition of HP:0010539 (Thin calvarium)\n", + " \n", + " \n", + " Elevated urinary formiminoglutamic acid level\n", + " definition of HP:0034742 (Elevated urinary formiminoglutamic acid level)\n", + " \n", + " \n", + " The concentration of formiminoglutamic acid in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:0034742 (Elevated urinary formiminoglutamic acid level)\n", + " \n", + " \n", + " #Formiminoglutamic acid high in urine\n", + " definition of HP:0034742 (Elevated urinary formiminoglutamic acid level)\n", + " \n", + " \n", + " Floppy eyelid\n", + " definition of HP:0032029 (Floppy eyelid)\n", + " \n", + " \n", + " Excessive eyelid tissue laxity, typically affecting both upper eyelids and associated with spontanteous tarsal eversion during sleep. It is more common in the obese, it may be associated with obstructive sleep apnea and it may result in corneal exposure or chronic papillary conjunctivitis.\n", + " definition of HP:0032029 (Floppy eyelid)\n", + " \n", + " \n", + " Rubber-like lump\n", + " definition of HP:0025765 (Rubber-like lump)\n", + " \n", + " \n", + " This modifier is applied to a palpable mass or swelling in the body that has a rubber-like consistency, that is, it is soft and somewhat compressible.\n", + " definition of HP:0025765 (Rubber-like lump)\n", + " \n", + " \n", + " #Rubber-like mass\n", + " definition of HP:0025765 (Rubber-like lump)\n", + " \n", + " \n", + " Cavernous hemangioma\n", + " definition of HP:0001048 (Cavernous hemangioma)\n", + " \n", + " \n", + " The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma.\n", + " definition of HP:0001048 (Cavernous hemangioma)\n", + " \n", + " \n", + " #Cavernous angioma #Cavernous haemangioma #Collection of dilated blood vessels that forms mass\n", + " definition of HP:0001048 (Cavernous hemangioma)\n", + " \n", + " \n", + " Platelet anisocytosis\n", + " definition of HP:0032438 (Platelet anisocytosis)\n", + " \n", + " \n", + " Abnormally increased variability in the size of platelets.\n", + " definition of HP:0032438 (Platelet anisocytosis)\n", + " \n", + " \n", + " Mandibular hyperostosis\n", + " definition of HP:0004472 (Mandibular hyperostosis)\n", + " \n", + " \n", + " Hyperostosis (bony overgrowth) of the mandible.\n", + " definition of HP:0004472 (Mandibular hyperostosis)\n", + " \n", + " \n", + " #Hyperostosis of lower jaw #Hyperostosis of mandibular bone #Increased ossification of mandibular bone\n", + " definition of HP:0004472 (Mandibular hyperostosis)\n", + " \n", + " \n", + " Decreased number of small peripheral myelinated nerve fibers\n", + " definition of HP:0007249 (Decreased number of small peripheral myelinated nerve fibers)\n", + " \n", + " \n", + " #Decreased number of small peripheral myelinated nerve fibres\n", + " definition of HP:0007249 (Decreased number of small peripheral myelinated nerve fibers)\n", + " \n", + " \n", + " Abnormal muscle fiber alpha dystroglycan\n", + " definition of HP:0030112 (Abnormal muscle fiber alpha dystroglycan)\n", + " \n", + " \n", + " A deviation from normal of muscle alpha-dystroglcan expression. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly.\n", + " definition of HP:0030112 (Abnormal muscle fiber alpha dystroglycan)\n", + " \n", + " \n", + " #Abnormal muscle fibre alpha dystroglycan\n", + " definition of HP:0030112 (Abnormal muscle fiber alpha dystroglycan)\n", + " \n", + " \n", + " Renal cortical microcysts\n", + " definition of HP:0004734 (Renal cortical microcysts)\n", + " \n", + " \n", + " Cysts of microscopic size confined to the cortex of the kidney.\n", + " definition of HP:0004734 (Renal cortical microcysts)\n", + " \n", + " \n", + " #Cortical microcysts #Multiple renal cortical microcysts #Multiple small renal cortical cysts\n", + " definition of HP:0004734 (Renal cortical microcysts)\n", + " \n", + " \n", + " Reduced circulating prolactin concentration\n", + " definition of HP:0008202 (Reduced circulating prolactin concentration)\n", + " \n", + " \n", + " A reduced level of prolactin in the blood circulation. Prolactin is a protein hormone that is secreted by lactotrophs in the anterior pituitary and that stimulates mammary gland development and milk production.\n", + " definition of HP:0008202 (Reduced circulating prolactin concentration)\n", + " \n", + " \n", + " #Prolactin deficiency\n", + " definition of HP:0008202 (Reduced circulating prolactin concentration)\n", + " \n", + " \n", + " Epiphyseal dysplasia\n", + " definition of HP:0002656 (Epiphyseal dysplasia)\n", + " \n", + " \n", + " #Abnormal development of the ends of long bones in arms and legs\n", + " definition of HP:0002656 (Epiphyseal dysplasia)\n", + " \n", + " \n", + " Stippling of the epiphysis of the proximal phalanx of the thumb\n", + " definition of HP:0009673 (Stippling of the epiphysis of the proximal phalanx of the thumb)\n", + " \n", + " \n", + " The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.\n", + " definition of HP:0009673 (Stippling of the epiphysis of the proximal phalanx of the thumb)\n", + " \n", + " \n", + " #Speckled calcifications in end part of thumb innermost long bone\n", + " definition of HP:0009673 (Stippling of the epiphysis of the proximal phalanx of the thumb)\n", + " \n", + " \n", + " Ragged-red muscle fibers\n", + " definition of HP:0003200 (Ragged-red muscle fibers)\n", + " \n", + " \n", + " An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm.\n", + " definition of HP:0003200 (Ragged-red muscle fibers)\n", + " \n", + " \n", + " #Mitochondrial proliferation in muscle tissue #Ragged red muscle fibers #Ragged red muscle fibres #Ragged-red fibers #Ragged-red fibres #Ragged-red muscle fibres\n", + " definition of HP:0003200 (Ragged-red muscle fibers)\n", + " \n", + " \n", + " Facial midline hemangioma\n", + " definition of HP:0004664 (Facial midline hemangioma)\n", + " \n", + " \n", + " Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the midline region of the face.\n", + " definition of HP:0004664 (Facial midline hemangioma)\n", + " \n", + " \n", + " Extrahepatic portal hypertension\n", + " definition of HP:0004941 (Extrahepatic portal hypertension)\n", + " \n", + " \n", + " Increased pressure in the pre-hepatic portal vein.\n", + " definition of HP:0004941 (Extrahepatic portal hypertension)\n", + " \n", + " \n", + " Abnormal HDL cholesterol concentration\n", + " definition of HP:0031888 (Abnormal HDL cholesterol concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of high-density lipoprotein cholesterol (HDL) in the blood.\n", + " definition of HP:0031888 (Abnormal HDL cholesterol concentration)\n", + " \n", + " \n", + " Right hemiplegia\n", + " definition of HP:0040293 (Right hemiplegia)\n", + " \n", + " \n", + " #Hemiplegia (right)\n", + " definition of HP:0040293 (Right hemiplegia)\n", + " \n", + " \n", + " Peripheral cystoid retinal degeneration\n", + " definition of HP:0007667 (Peripheral cystoid retinal degeneration)\n", + " \n", + " \n", + " Degenerative changes of the peripheral retina consisting of close-packed tiny cystic spaces at the outer plexiform/inner nuclear retinal level. The degeneration is very common in adult eyes and starts adjacent to the ora serrata and extends circumferentially and posteriorly.\n", + " definition of HP:0007667 (Peripheral cystoid retinal degeneration)\n", + " \n", + " \n", + " #Cystic retinal degeneration #Peripheral cystoid degeneration\n", + " definition of HP:0007667 (Peripheral cystoid retinal degeneration)\n", + " \n", + " \n", + " Smoker-inclusions in alveolar macrophages\n", + " definition of HP:0032986 (Smoker-inclusions in alveolar macrophages)\n", + " \n", + " \n", + " In otherwise healthy smokers, characteristic so called smoker-inclusion can be found within the macrophages in the bronchoalveolar fluid. These blue/ black/ round/ oval cytoplasmic inclusions consist of pigmented lipid deposits.\n", + " definition of HP:0032986 (Smoker-inclusions in alveolar macrophages)\n", + " \n", + " \n", + " Tooth malposition\n", + " definition of HP:0000692 (Tooth malposition)\n", + " \n", + " \n", + " Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth.\n", + " definition of HP:0000692 (Tooth malposition)\n", + " \n", + " \n", + " #Abnormal dental position #Abnormal teeth spacing #Abnormality of alignment of teeth #Abnormality of teeth spacing #Crooked teeth #Malaligned teeth #Malposition of teeth #Malpositioned teeth #Misalignment of teeth #Teeth, malposition\n", + " definition of HP:0000692 (Tooth malposition)\n", + " \n", + " \n", + " Optic nerve mass\n", + " definition of HP:0025739 (Optic nerve mass)\n", + " \n", + " \n", + " A swelling or enlargement localized to the optic nerve. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.\n", + " definition of HP:0025739 (Optic nerve mass)\n", + " \n", + " \n", + " Refractory drug response\n", + " definition of HP:0020174 (Refractory drug response)\n", + " \n", + " \n", + " Absent or significantly reduced efficacy of drug intervention characterized by lack of measurable benefit or deterioration of disease course.\n", + " definition of HP:0020174 (Refractory drug response)\n", + " \n", + " \n", + " #Drug resistance\n", + " definition of HP:0020174 (Refractory drug response)\n", + " \n", + " \n", + " Axillary lymphadenopathy\n", + " definition of HP:0034752 (Axillary lymphadenopathy)\n", + " \n", + " \n", + " Enlarged lymph node located in the axillary region (armpit).\n", + " definition of HP:0034752 (Axillary lymphadenopathy)\n", + " \n", + " \n", + " Lytic defects of the humeral metaphysis\n", + " definition of HP:0003915 (Lytic defects of the humeral metaphysis)\n", + " \n", + " \n", + " Coronary arteriovenous fistula\n", + " definition of HP:0031563 (Coronary arteriovenous fistula)\n", + " \n", + " \n", + " An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering any segment of the systemic or pulmonary circulation.\n", + " definition of HP:0031563 (Coronary arteriovenous fistula)\n", + " \n", + " \n", + " Impaired ristocetin cofactor assay activity\n", + " definition of HP:0030129 (Impaired ristocetin cofactor assay activity)\n", + " \n", + " \n", + " Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin to platelet-poor plasma.\n", + " definition of HP:0030129 (Impaired ristocetin cofactor assay activity)\n", + " \n", + " \n", + " Non-acidotic proximal tubulopathy\n", + " definition of HP:0005574 (Non-acidotic proximal tubulopathy)\n", + " \n", + " \n", + " A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption without bicarbonate loss.\n", + " definition of HP:0005574 (Non-acidotic proximal tubulopathy)\n", + " \n", + " \n", + " Pelvic bone exostoses\n", + " definition of HP:0003276 (Pelvic bone exostoses)\n", + " \n", + " \n", + " A benign growth the projects outward from the bone surface of the pelvis. Exostoses are capped by cartilage, and arise from a bone that develops from cartilage.\n", + " definition of HP:0003276 (Pelvic bone exostoses)\n", + " \n", + " \n", + " Male hypogonadism\n", + " definition of HP:0000026 (Male hypogonadism)\n", + " \n", + " \n", + " Decreased functionality of the male gonad, i.e., of the testis, with reduced spermatogenesis or testosterone synthesis.\n", + " definition of HP:0000026 (Male hypogonadism)\n", + " \n", + " \n", + " #Decreased function of male gonad\n", + " definition of HP:0000026 (Male hypogonadism)\n", + " \n", + " \n", + " Ultra-low vision with retained motion projection\n", + " definition of HP:0032284 (Ultra-low vision with retained motion projection)\n", + " \n", + " \n", + " Ultra-low vision but with retained ability to identify a moving object (typically hand motion at distance of 30 cm).\n", + " definition of HP:0032284 (Ultra-low vision with retained motion projection)\n", + " \n", + " \n", + " Idiosyncratic gesture\n", + " definition of HP:5200047 (Idiosyncratic gesture)\n", + " \n", + " \n", + " When one uses gestures that are unique to them and have no apparent meaning to others.\n", + " definition of HP:5200047 (Idiosyncratic gesture)\n", + " \n", + " \n", + " Chronic CSF lymphocytosis\n", + " definition of HP:0009704 (Chronic CSF lymphocytosis)\n", + " \n", + " \n", + " Chronic cerebrospinal fluid (CSF) lymphocytosis is defined as the finding, in at least two serial CSF examinations, of more than 5 cells per cubic millimeter.\n", + " definition of HP:0009704 (Chronic CSF lymphocytosis)\n", + " \n", + " \n", + " #Chronic cerebrospinal fluid lymphocytosis\n", + " definition of HP:0009704 (Chronic CSF lymphocytosis)\n", + " \n", + " \n", + " Impairment of the the acoustic reflex\n", + " definition of HP:0040122 (Impairment of the the acoustic reflex)\n", + " \n", + " \n", + " Left ventricular outflow tract obstruction\n", + " definition of HP:0032092 (Left ventricular outflow tract obstruction)\n", + " \n", + " \n", + " Left ventricular outflow tract (LVOT) obstruction can occur at the valvular, subvalvular, or supravalvular level. In general, there is an obstruction to forward flow which increases afterload, and if untreated, can result in hypertrophy, dilatation, and eventual failure of the left ventricle.\n", + " definition of HP:0032092 (Left ventricular outflow tract obstruction)\n", + " \n", + " \n", + " Double inlet to single ventricle with common atrioventricular orifice\n", + " definition of HP:0011558 (Double inlet to single ventricle with common atrioventricular orifice)\n", + " \n", + " \n", + " Stippled calcification proximal humeral epiphyses\n", + " definition of HP:0008838 (Stippled calcification proximal humeral epiphyses)\n", + " \n", + " \n", + " #Speckled calcifications in end part of innermost long bone of upper arm\n", + " definition of HP:0008838 (Stippled calcification proximal humeral epiphyses)\n", + " \n", + " \n", + " Anterior pituitary agenesis\n", + " definition of HP:0010626 (Anterior pituitary agenesis)\n", + " \n", + " \n", + " Absence of the anterior pituitary gland resulting from a developmental defect.\n", + " definition of HP:0010626 (Anterior pituitary agenesis)\n", + " \n", + " \n", + " #Absent pituitary gland #Aplasia of the pituitary gland\n", + " definition of HP:0010626 (Anterior pituitary agenesis)\n", + " \n", + " \n", + " Herpetiform corneal ulceration\n", + " definition of HP:0007812 (Herpetiform corneal ulceration)\n", + " \n", + " \n", + " The presence of one or more dendritic corneal epithelial ulcers characterized by a treelike branching linear pattern with feathery edges and terminal bulbs. Herpetiform corneal ulcers can be identified by fluorescein staining.\n", + " definition of HP:0007812 (Herpetiform corneal ulceration)\n", + " \n", + " \n", + " #Dendritic corneal epithelial ulcer #Herpetiform corneal ulcers\n", + " definition of HP:0007812 (Herpetiform corneal ulceration)\n", + " \n", + " \n", + " Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio\n", + " definition of HP:6000185 (Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio)\n", + " \n", + " \n", + " The relative concentration of tetrahydrocortisol plus 5-alpha-tetrahydrocortisol relative to that of tetrahydrocortisone is below the lower limit of normal.\n", + " definition of HP:6000185 (Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio)\n", + " \n", + " \n", + " Bethlem sign\n", + " definition of HP:0030233 (Bethlem sign)\n", + " \n", + " \n", + " Limitation of wrist and finger extension on asking patient to form a prayer sign. This is a result of progressive wrist and finger flexion contractures.\n", + " definition of HP:0030233 (Bethlem sign)\n", + " \n", + " \n", + " #Bethlem phenomenon\n", + " definition of HP:0030233 (Bethlem sign)\n", + " \n", + " \n", + " Calcium phosphate nephrolithiasis\n", + " definition of HP:0012580 (Calcium phosphate nephrolithiasis)\n", + " \n", + " \n", + " The presence of calcium- and phosphate-containing calculi (stones) in the kidneys.\n", + " definition of HP:0012580 (Calcium phosphate nephrolithiasis)\n", + " \n", + " \n", + " #Ca phosphate nephrolithiasis #Ca phosphate urolithiasis #Ca2+ phosphate nephrolitiasis #Ca2+ phosphate urolithiasis\n", + " definition of HP:0012580 (Calcium phosphate nephrolithiasis)\n", + " \n", + " \n", + " Abnormal lymphatic vessel morphology\n", + " definition of HP:0100766 (Abnormal lymphatic vessel morphology)\n", + " \n", + " \n", + " A structural anomaly of the vessel that contains or conveys lymph fluid.\n", + " definition of HP:0100766 (Abnormal lymphatic vessel morphology)\n", + " \n", + " \n", + " #Abnormality of the lymphatic vessels\n", + " definition of HP:0100766 (Abnormal lymphatic vessel morphology)\n", + " \n", + " \n", + " Renal vasculitis\n", + " definition of HP:6000076 (Renal vasculitis)\n", + " \n", + " \n", + " Vasculitis (inflammation of blood vessels) in the kidney. Renal vasculitis can be observed with numerous disorders and presents clinically as rapidly progressive glomerulonephritis (RPGN) which is characterized by acute kidney injury (AKI), haematuria and proteinuria. Histological examination of the kidney reveals severe inflammation in the form of crescent formation, glomerular necrosis and vasculitis of small and medium sized vessels within the kidney.\n", + " definition of HP:6000076 (Renal vasculitis)\n", + " \n", + " \n", + " Irregular epiphysis of the middle phalanx of the 4th finger\n", + " definition of HP:0009219 (Irregular epiphysis of the middle phalanx of the 4th finger)\n", + " \n", + " \n", + " Irregular radiographic opacity of the epiphysis of the middle phalanx of the 4th finger.\n", + " definition of HP:0009219 (Irregular epiphysis of the middle phalanx of the 4th finger)\n", + " \n", + " \n", + " #Irregular end part of the middle bone of the ring finger\n", + " definition of HP:0009219 (Irregular epiphysis of the middle phalanx of the 4th finger)\n", + " \n", + " \n", + " Macular crystals\n", + " definition of HP:0030501 (Macular crystals)\n", + " \n", + " \n", + " Crystalline deposits in the macula.\n", + " definition of HP:0030501 (Macular crystals)\n", + " \n", + " \n", + " Horizontal supranuclear gaze palsy\n", + " definition of HP:0007817 (Horizontal supranuclear gaze palsy)\n", + " \n", + " \n", + " A supranuclear gaze palsy is an inability to look in a horizontal direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.\n", + " definition of HP:0007817 (Horizontal supranuclear gaze palsy)\n", + " \n", + " \n", + " Atrophy of the spinal cord\n", + " definition of HP:0006827 (Atrophy of the spinal cord)\n", + " \n", + " \n", + " #Degeneration of the spinal cord\n", + " definition of HP:0006827 (Atrophy of the spinal cord)\n", + " \n", + " \n", + " History of compressive dressings\n", + " definition of HP:6000682 (History of compressive dressings)\n", + " \n", + " \n", + " A past medical history of having been treated with tight bandages, compression sleeve, tight casts or splints, immobilizers, or similar items such as overly tight clothes, watch bands, or handcuffs.\n", + " definition of HP:6000682 (History of compressive dressings)\n", + " \n", + " \n", + " Predominantly dermal neutrophilic infiltrate\n", + " definition of HP:0031236 (Predominantly dermal neutrophilic infiltrate)\n", + " \n", + " \n", + " Collection of neutrophils in the dermis.\n", + " definition of HP:0031236 (Predominantly dermal neutrophilic infiltrate)\n", + " \n", + " \n", + " Fragmentation of the epiphysis of the proximal phalanx of the 5th toe\n", + " definition of HP:0100228 (Fragmentation of the epiphysis of the proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " #Fragmentation of the end part of the innermost bone of the little toe #Fragmentation of the end part of the innermost bone of the pinkie toe #Fragmentation of the end part of the innermost bone of the pinky toe\n", + " definition of HP:0100228 (Fragmentation of the epiphysis of the proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " Mesoaxial hand polydactyly\n", + " definition of HP:0006159 (Mesoaxial hand polydactyly)\n", + " \n", + " \n", + " The presence of a supernumerary finger (not a thumb) involving the third or fourth metacarpal with associated osseous syndactyly.\n", + " definition of HP:0006159 (Mesoaxial hand polydactyly)\n", + " \n", + " \n", + " #Interdigital finger polydactyly\n", + " definition of HP:0006159 (Mesoaxial hand polydactyly)\n", + " \n", + " \n", + " Glenoid dysplasia\n", + " definition of HP:6000934 (Glenoid dysplasia)\n", + " \n", + " \n", + " Glenoid dysplasia is a developmental anomaly of the scapula that is characterized by a bony deficiency of the posteroinferior glenoid and the adjacent scapular neck.\n", + " definition of HP:6000934 (Glenoid dysplasia)\n", + " \n", + " \n", + " #Glenohumeral dysplasia\n", + " definition of HP:6000934 (Glenoid dysplasia)\n", + " \n", + " \n", + " Micrognathia\n", + " definition of HP:0000347 (Micrognathia)\n", + " \n", + " \n", + " Developmental hypoplasia of the mandible.\n", + " definition of HP:0000347 (Micrognathia)\n", + " \n", + " \n", + " #Decreased size of lower jaw #Decreased size of mandible #Hypoplasia of lower jaw #Hypoplasia of mandible #Hypoplastic mandible #Hypoplastic mandible condyle #Hypotrophic lower jaw #Hypotrophic mandible #Little lower jaw #Little mandible #Lower jaw deficiency #Lower jaw hypoplasia #Lower jaw retrusion #Mandibular deficiency #Mandibular hypoplasia #Mandibular micrognathia #Mandibular retrognathia #Mandibular retrusion #Micrognathia of lower jaw #Micromandible #Robin mandible #Severe hypoplasia of mandible #Small jaw #Small lower jaw #Small mandible #Underdevelopment of lower jaw #Underdevelopment of mandible\n", + " definition of HP:0000347 (Micrognathia)\n", + " \n", + " \n", + " Enteroviral dermatomyositis syndrome\n", + " definition of HP:0003729 (Enteroviral dermatomyositis syndrome)\n", + " \n", + " \n", + " IgG4 autoimmune antibody positivity\n", + " definition of HP:0033629 (IgG4 autoimmune antibody positivity)\n", + " \n", + " \n", + " The presence of an antibody of subclass IgG4 in the blood circulation that is directed against the organism's own cells or tissues.\n", + " definition of HP:0033629 (IgG4 autoimmune antibody positivity)\n", + " \n", + " \n", + " Brainstem glioma\n", + " definition of HP:0010796 (Brainstem glioma)\n", + " \n", + " \n", + " A glioma affecting the brainstem.\n", + " definition of HP:0010796 (Brainstem glioma)\n", + " \n", + " \n", + " Pancreatic cysts\n", + " definition of HP:0001737 (Pancreatic cysts)\n", + " \n", + " \n", + " A cyst of the pancreas that possess a lining of mucous epithelium.\n", + " definition of HP:0001737 (Pancreatic cysts)\n", + " \n", + " \n", + " #Pancreatic cysts\n", + " definition of HP:0001737 (Pancreatic cysts)\n", + " \n", + " \n", + " Unusual virus reactivation\n", + " definition of HP:0034318 (Unusual virus reactivation)\n", + " \n", + " \n", + " Reactivation is the mechanism whereby a latent virus that has infected a host cell switches to a lytic stage, undergoing productive viral replication and allowing the virus to spread. This term refers to reactivation regarded as unusual because of frequency, intensity, location, or nature of the virus, in the sense that the reactivation would not be observed in an immunocompetent host.\n", + " definition of HP:0034318 (Unusual virus reactivation)\n", + " \n", + " \n", + " Thoracic hypoplasia\n", + " definition of HP:0005257 (Thoracic hypoplasia)\n", + " \n", + " \n", + " #Small chest #Small thorax\n", + " definition of HP:0005257 (Thoracic hypoplasia)\n", + " \n", + " \n", + " Calvarial hyperostosis\n", + " definition of HP:0004490 (Calvarial hyperostosis)\n", + " \n", + " \n", + " Excessive growth of the calvaria.\n", + " definition of HP:0004490 (Calvarial hyperostosis)\n", + " \n", + " \n", + " #Hyperostosis of calvarial bones #Increased ossification of calvarial bones #Overgrowth of skullcap\n", + " definition of HP:0004490 (Calvarial hyperostosis)\n", + " \n", + " \n", + " Increased fecal protoporphyrin concentration\n", + " definition of HP:0034283 (Increased fecal protoporphyrin concentration)\n", + " \n", + " \n", + " Abnormally high concentration of protoporphyrin (derivative of porphyrin with propionic acid groups) in feces.\n", + " definition of HP:0034283 (Increased fecal protoporphyrin concentration)\n", + " \n", + " \n", + " Enlarged humeral head\n", + " definition of HP:6000884 (Enlarged humeral head)\n", + " \n", + " \n", + " Size (volume) of the head of the humerus above the upper limit of normal.\n", + " definition of HP:6000884 (Enlarged humeral head)\n", + " \n", + " \n", + " Premature sternal synostosis\n", + " definition of HP:0006590 (Premature sternal synostosis)\n", + " \n", + " \n", + " Prematurely closed sternal sutures.\n", + " definition of HP:0006590 (Premature sternal synostosis)\n", + " \n", + " \n", + " #Prematurely closed sternal sutures\n", + " definition of HP:0006590 (Premature sternal synostosis)\n", + " \n", + " \n", + " Portosystemic collateral veins\n", + " definition of HP:0025154 (Portosystemic collateral veins)\n", + " \n", + " \n", + " Presence of biliary veins that serve as a collateral channel to the systemic circulation\n", + " definition of HP:0025154 (Portosystemic collateral veins)\n", + " \n", + " \n", + " #Collateral biliary circulation #Collateral biliary veins\n", + " definition of HP:0025154 (Portosystemic collateral veins)\n", + " \n", + " \n", + " Increased circulating osteocalcin level\n", + " definition of HP:0031428 (Increased circulating osteocalcin level)\n", + " \n", + " \n", + " An elevated level of osteocalcin in the blood.\n", + " definition of HP:0031428 (Increased circulating osteocalcin level)\n", + " \n", + " \n", + " Diminished urine glutamine level\n", + " definition of HP:0025746 (Diminished urine glutamine level)\n", + " \n", + " \n", + " The amount of glutamine in the urine, normalized for urine concentration, is below the lower limit of normal.\n", + " definition of HP:0025746 (Diminished urine glutamine level)\n", + " \n", + " \n", + " Fractured ilium\n", + " definition of HP:0041233 (Fractured ilium)\n", + " \n", + " \n", + " A partial or complete breakage of the ilium.\n", + " definition of HP:0041233 (Fractured ilium)\n", + " \n", + " \n", + " #bone ilium\n", + " definition of HP:0041233 (Fractured ilium)\n", + " \n", + " \n", + " Serpiginous crus of helix\n", + " definition of HP:0011257 (Serpiginous crus of helix)\n", + " \n", + " \n", + " Curving course of the crus of the helix, approaching or joining the antitragus.\n", + " definition of HP:0011257 (Serpiginous crus of helix)\n", + " \n", + " \n", + " #Helix, crus, serpiginous\n", + " definition of HP:0011257 (Serpiginous crus of helix)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the earlobes\n", + " definition of HP:0009906 (Aplasia/Hypoplasia of the earlobes)\n", + " \n", + " \n", + " Absence or underdevelopment of the ear lobes.\n", + " definition of HP:0009906 (Aplasia/Hypoplasia of the earlobes)\n", + " \n", + " \n", + " #Absent/small ear lobes #Absent/underdeveloped ear lobes\n", + " definition of HP:0009906 (Aplasia/Hypoplasia of the earlobes)\n", + " \n", + " \n", + " Small anterior fontanelle\n", + " definition of HP:0000237 (Small anterior fontanelle)\n", + " \n", + " \n", + " Abnormally decreased size of the anterior fontanelle with respect to age-dependent norms.\n", + " definition of HP:0000237 (Small anterior fontanelle)\n", + " \n", + " \n", + " #Small anterior fontanel #Small forehead fontanel\n", + " definition of HP:0000237 (Small anterior fontanelle)\n", + " \n", + " \n", + " Abnormal 2nd finger morphology\n", + " definition of HP:0004100 (Abnormal 2nd finger morphology)\n", + " \n", + " \n", + " An anomaly of the second finger, also known as the index finger.\n", + " definition of HP:0004100 (Abnormal 2nd finger morphology)\n", + " \n", + " \n", + " #Abnormality of index finger #Abnormality of the 2nd finger\n", + " definition of HP:0004100 (Abnormal 2nd finger morphology)\n", + " \n", + " \n", + " Gonadal calcification\n", + " definition of HP:0008703 (Gonadal calcification)\n", + " \n", + " \n", + " Deposition of calcium salts in gonadal tissue.\n", + " definition of HP:0008703 (Gonadal calcification)\n", + " \n", + " \n", + " Positive CSF infectious agent test\n", + " definition of HP:0430123 (Positive CSF infectious agent test)\n", + " \n", + " \n", + " Any kind of test for an infectious agent in the cerebrospinal fluid (CSF) positive.\n", + " definition of HP:0430123 (Positive CSF infectious agent test)\n", + " \n", + " \n", + " Gluten intolerance\n", + " definition of HP:0012538 (Gluten intolerance)\n", + " \n", + " \n", + " A detrimental reaction to the presence of gluten in food, which may include abdominal pain, fatigue, headaches and paresthesia, or celiac disease.\n", + " definition of HP:0012538 (Gluten intolerance)\n", + " \n", + " \n", + " #Gluten intolerance #Gluten sensitivity\n", + " definition of HP:0012538 (Gluten intolerance)\n", + " \n", + " \n", + " Adrenogenital syndrome\n", + " definition of HP:0000840 (Adrenogenital syndrome)\n", + " \n", + " \n", + " Adrenogenital syndrome is also known as congenital adrenal hyperplasia, which results from disorders of steroid hormone production in the adrenal glands leading to a deficiency of cortisol. The pituitary gland reacts by increased secretion of corticotropin, which in turn causes the adrenal glands to overproduce certain intermediary hormones which have testosterone-like effects.\n", + " definition of HP:0000840 (Adrenogenital syndrome)\n", + " \n", + " \n", + " Facial telangiectasia in butterfly midface distribution\n", + " definition of HP:0005598 (Facial telangiectasia in butterfly midface distribution)\n", + " \n", + " \n", + " Telangiectases (small dilated blood vessels) located near the surface of the skin in a butterfly midface distribution.\n", + " definition of HP:0005598 (Facial telangiectasia in butterfly midface distribution)\n", + " \n", + " \n", + " #Butterfly facial telangiectasia\n", + " definition of HP:0005598 (Facial telangiectasia in butterfly midface distribution)\n", + " \n", + " \n", + " Frank breech presentation\n", + " definition of HP:0010859 (Frank breech presentation)\n", + " \n", + " \n", + " A kind of breech presentation in which the hips are flexed and the knees are extended.\n", + " definition of HP:0010859 (Frank breech presentation)\n", + " \n", + " \n", + " Abnormal superficial reflex\n", + " definition of HP:0031828 (Abnormal superficial reflex)\n", + " \n", + " \n", + " An anomaly of a reflex that is elicited as a motor response to scraping of the skin. They are generally graded as present or absent. They differ from tendon reflexes in that the sensory signal must ascend the spinal cord to reach the brain and then descend the spinal cord to reach the motor neurons.\n", + " definition of HP:0031828 (Abnormal superficial reflex)\n", + " \n", + " \n", + " EEG with parietal focal spikes\n", + " definition of HP:0012017 (EEG with parietal focal spikes)\n", + " \n", + " \n", + " EEG with focal sharp transient waves of a duration less than 80 msec in the parietal region.\n", + " definition of HP:0012017 (EEG with parietal focal spikes)\n", + " \n", + " \n", + " Birdshot retinochoroidopathy\n", + " definition of HP:0030952 (Birdshot retinochoroidopathy)\n", + " \n", + " \n", + " Multiple cream-yellow colored hypopigmented lesions typically located at the level of the choroid or retinal pigment epithelium; ovoid, cream-colored with indistinct borders. They are between 50 and 1,500 micrometers in size with a characteristic nasal, radial distribution in the postequatorial fundus.\n", + " definition of HP:0030952 (Birdshot retinochoroidopathy)\n", + " \n", + " \n", + " #Birdshot choroidal lesions #Birdshot laesions #Birdshot lesions\n", + " definition of HP:0030952 (Birdshot retinochoroidopathy)\n", + " \n", + " \n", + " Elevated circulating arabinitol concentration\n", + " definition of HP:0034611 (Elevated circulating arabinitol concentration)\n", + " \n", + " \n", + " Concentration of arabinitol in the blood circulation above the upper limit of normal.\n", + " definition of HP:0034611 (Elevated circulating arabinitol concentration)\n", + " \n", + " \n", + " #Elevated circulating D-arabinitol concentration\n", + " definition of HP:0034611 (Elevated circulating arabinitol concentration)\n", + " \n", + " \n", + " Increased lymph node lymphocyte cytoplasm\n", + " definition of HP:0020286 (Increased lymph node lymphocyte cytoplasm)\n", + " \n", + " \n", + " Increased amount of cytoplasm compared to the majority of lymphocytes in a benign lymph node.\n", + " definition of HP:0020286 (Increased lymph node lymphocyte cytoplasm)\n", + " \n", + " \n", + " Lymphangiectasis\n", + " definition of HP:0031842 (Lymphangiectasis)\n", + " \n", + " \n", + " Dilation of the lymphatic vessels, the basic process that may result in the formation of a lymphangioma.\n", + " definition of HP:0031842 (Lymphangiectasis)\n", + " \n", + " \n", + " #Lymphangiectasia\n", + " definition of HP:0031842 (Lymphangiectasis)\n", + " \n", + " \n", + " Vascular neoplasm\n", + " definition of HP:0100742 (Vascular neoplasm)\n", + " \n", + " \n", + " A benign or malignant neoplasm (tumor) originating in the vascular system.\n", + " definition of HP:0100742 (Vascular neoplasm)\n", + " \n", + " \n", + " #Blood vessel tumor #Blood vessel tumour\n", + " definition of HP:0100742 (Vascular neoplasm)\n", + " \n", + " \n", + " Persistent pupillary membrane\n", + " definition of HP:0009917 (Persistent pupillary membrane)\n", + " \n", + " \n", + " The presence of remnants of a fetal membrane that persist as strands of tissue crossing the pupil.\n", + " definition of HP:0009917 (Persistent pupillary membrane)\n", + " \n", + " \n", + " Hypoplasia of the lower eyelids\n", + " definition of HP:0007697 (Hypoplasia of the lower eyelids)\n", + " \n", + " \n", + " Underdevelopment of the lower eyelid.\n", + " definition of HP:0007697 (Hypoplasia of the lower eyelids)\n", + " \n", + " \n", + " #Decreased size of lower eyelid #Underdevelopment of lower eyelid\n", + " definition of HP:0007697 (Hypoplasia of the lower eyelids)\n", + " \n", + " \n", + " Cortical radial artery intraluminal organized thrombi\n", + " definition of HP:0033951 (Cortical radial artery intraluminal organized thrombi)\n", + " \n", + " \n", + " Thrombi containing fibrous tissue and capillary-like vascular channels within the interior space of cortical radial arteries (interlobular arteries) of the kidney.\n", + " definition of HP:0033951 (Cortical radial artery intraluminal organized thrombi)\n", + " \n", + " \n", + " #Organised thrombi within interlobular arterial lumen #Organized thrombi within interlobular arterial lumen\n", + " definition of HP:0033951 (Cortical radial artery intraluminal organized thrombi)\n", + " \n", + " \n", + " Prominent scalp veins\n", + " definition of HP:0001043 (Prominent scalp veins)\n", + " \n", + " \n", + " #Prominent scalp veins\n", + " definition of HP:0001043 (Prominent scalp veins)\n", + " \n", + " \n", + " Polycalycosis\n", + " definition of HP:0025360 (Polycalycosis)\n", + " \n", + " \n", + " Increased number of calices of the kidney.\n", + " definition of HP:0025360 (Polycalycosis)\n", + " \n", + " \n", + " Arterial tortuosity\n", + " definition of HP:0005116 (Arterial tortuosity)\n", + " \n", + " \n", + " Abnormal tortuous (i.e., twisted) form of arteries.\n", + " definition of HP:0005116 (Arterial tortuosity)\n", + " \n", + " \n", + " Myelocystocele\n", + " definition of HP:0030709 (Myelocystocele)\n", + " \n", + " \n", + " Myelocystocele is characterized by a large, ependyma-lined, cystic dilation of the caudal end of the central canal of the spinal cord; it projects dorsally through a lamina defect, with overlying varying amounts of lipomatous subcutaneous tissue. Myelocystoceles are associated with a tethered cord and meningocele, which communicates with the spinal subarachnoid space, but not with the central canal cyst.\n", + " definition of HP:0030709 (Myelocystocele)\n", + " \n", + " \n", + " Cupped radial metaphyses\n", + " definition of HP:0004016 (Cupped radial metaphyses)\n", + " \n", + " \n", + " Prominent scrotal raphe\n", + " definition of HP:0003246 (Prominent scrotal raphe)\n", + " \n", + " \n", + " Increased size of the ridge of tissue that extends along the midline of the scrotum.\n", + " definition of HP:0003246 (Prominent scrotal raphe)\n", + " \n", + " \n", + " #Prominent perineal raphe\n", + " definition of HP:0003246 (Prominent scrotal raphe)\n", + " \n", + " \n", + " Abnormal limb bone morphology\n", + " definition of HP:0002813 (Abnormal limb bone morphology)\n", + " \n", + " \n", + " Any abnormality of bones of the arms or legs.\n", + " definition of HP:0002813 (Abnormal limb bone morphology)\n", + " \n", + " \n", + " #Abnormal shape of limb bone #Abnormality of limb bone morphology #Arm and/or leg bone differences #Limb abnormality\n", + " definition of HP:0002813 (Abnormal limb bone morphology)\n", + " \n", + " \n", + " Magnesium ammonium phosphate crystalluria\n", + " definition of HP:0032961 (Magnesium ammonium phosphate crystalluria)\n", + " \n", + " \n", + " Magnesium ammonium phosphate crystals in the urine.\n", + " definition of HP:0032961 (Magnesium ammonium phosphate crystalluria)\n", + " \n", + " \n", + " #Struvite urinary crystals\n", + " definition of HP:0032961 (Magnesium ammonium phosphate crystalluria)\n", + " \n", + " \n", + " Retinal nonattachment\n", + " definition of HP:0007899 (Retinal nonattachment)\n", + " \n", + " \n", + " Failure of attachment of the retina during development.\n", + " definition of HP:0007899 (Retinal nonattachment)\n", + " \n", + " \n", + " #Congenital retinal non-attachment\n", + " definition of HP:0007899 (Retinal nonattachment)\n", + " \n", + " \n", + " Abnormal spleen morphology\n", + " definition of HP:0025408 (Abnormal spleen morphology)\n", + " \n", + " \n", + " Any anomaly of the structure of the spleen.\n", + " definition of HP:0025408 (Abnormal spleen morphology)\n", + " \n", + " \n", + " Abnormal CSF tyrosine concentration\n", + " definition of HP:0500219 (Abnormal CSF tyrosine concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of tyrosine in the cerebrospinal fluid.\n", + " definition of HP:0500219 (Abnormal CSF tyrosine concentration)\n", + " \n", + " \n", + " #Abnormal tyrosine levels in cerebrospinal fluid\n", + " definition of HP:0500219 (Abnormal CSF tyrosine concentration)\n", + " \n", + " \n", + " Abnormal number of alpha granules\n", + " definition of HP:0012528 (Abnormal number of alpha granules)\n", + " \n", + " \n", + " A deviation from the normal count of alpha granules per thrombocyte.\n", + " definition of HP:0012528 (Abnormal number of alpha granules)\n", + " \n", + " \n", + " Male sexual dysfunction\n", + " definition of HP:0040307 (Male sexual dysfunction)\n", + " \n", + " \n", + " A problem occurring during any phase of the male sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity\n", + " definition of HP:0040307 (Male sexual dysfunction)\n", + " \n", + " \n", + " Disorder of thought content\n", + " definition of HP:0025779 (Disorder of thought content)\n", + " \n", + " \n", + " Thought content disorders are characterized by abnormal beliefs and convictions (that are to be assessed given the culture and personal background of the affected individual).\n", + " definition of HP:0025779 (Disorder of thought content)\n", + " \n", + " \n", + " #Abnormal thought pattern\n", + " definition of HP:0025779 (Disorder of thought content)\n", + " \n", + " \n", + " Thickened Achilles tendon\n", + " definition of HP:0004690 (Thickened Achilles tendon)\n", + " \n", + " \n", + " An abnormal thickening of the Achilles tendon.\n", + " definition of HP:0004690 (Thickened Achilles tendon)\n", + " \n", + " \n", + " #Thickened Achilles tendon\n", + " definition of HP:0004690 (Thickened Achilles tendon)\n", + " \n", + " \n", + " Calcification of the interosseus membrane of the forearm\n", + " definition of HP:0030267 (Calcification of the interosseus membrane of the forearm)\n", + " \n", + " \n", + " Deposition of calcium salts in the fibrous sheet that connects the radius and the ulna.\n", + " definition of HP:0030267 (Calcification of the interosseus membrane of the forearm)\n", + " \n", + " \n", + " #Interosseous membrane calcification of forearm\n", + " definition of HP:0030267 (Calcification of the interosseus membrane of the forearm)\n", + " \n", + " \n", + " Short clavicles\n", + " definition of HP:0000894 (Short clavicles)\n", + " \n", + " \n", + " Reduced length of the clavicles.\n", + " definition of HP:0000894 (Short clavicles)\n", + " \n", + " \n", + " #Clavicular hypoplasia #Hypoplastic clavicles #Short collarbone #Underdeveloped clavicles\n", + " definition of HP:0000894 (Short clavicles)\n", + " \n", + " \n", + " Tibial deviation of the 5th toe\n", + " definition of HP:0100347 (Tibial deviation of the 5th toe)\n", + " \n", + " \n", + " Resting tremor\n", + " definition of HP:0002322 (Resting tremor)\n", + " \n", + " \n", + " A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse.\n", + " definition of HP:0002322 (Resting tremor)\n", + " \n", + " \n", + " #Rest tremor #Resting tremor #Tremor at rest\n", + " definition of HP:0002322 (Resting tremor)\n", + " \n", + " \n", + " Abnormal cytokine signaling\n", + " definition of HP:0031406 (Abnormal cytokine signaling)\n", + " \n", + " \n", + " Any abnormality in the series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription.\n", + " definition of HP:0031406 (Abnormal cytokine signaling)\n", + " \n", + " \n", + " #Abnormal cytokine signalling\n", + " definition of HP:0031406 (Abnormal cytokine signaling)\n", + " \n", + " \n", + " Reduced hepatic glycogen debrancher enzyme activity\n", + " definition of HP:0034957 (Reduced hepatic glycogen debrancher enzyme activity)\n", + " \n", + " \n", + " Activity of glycogen debrancher enzyme (also known as amylo-1,6-glucosydase, 4-alpha-glucantransferase) in liver tissue below the lower limit of normal.\n", + " definition of HP:0034957 (Reduced hepatic glycogen debrancher enzyme activity)\n", + " \n", + " \n", + " Elevated circulating 2-aminoadipic acid concentration\n", + " definition of HP:6000278 (Elevated circulating 2-aminoadipic acid concentration)\n", + " \n", + " \n", + " The concentration of 2-aminoadipic acid in the blood circulation is above the upper limit of normal.\n", + " definition of HP:6000278 (Elevated circulating 2-aminoadipic acid concentration)\n", + " \n", + " \n", + " Increased level of xylitol in urine\n", + " definition of HP:0410074 (Increased level of xylitol in urine)\n", + " \n", + " \n", + " An increase in the level of xylitol in the urine.\n", + " definition of HP:0410074 (Increased level of xylitol in urine)\n", + " \n", + " \n", + " Triangular shaped distal phalanx of the 4th finger\n", + " definition of HP:0009306 (Triangular shaped distal phalanx of the 4th finger)\n", + " \n", + " \n", + " Triangular shaped distal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.\n", + " definition of HP:0009306 (Triangular shaped distal phalanx of the 4th finger)\n", + " \n", + " \n", + " #Triangular shaped outermost bone of the ring finger\n", + " definition of HP:0009306 (Triangular shaped distal phalanx of the 4th finger)\n", + " \n", + " \n", + " Compensated hypothyroidism\n", + " definition of HP:0008223 (Compensated hypothyroidism)\n", + " \n", + " \n", + " Condition associated with a raised serum concentration of thyroid stimulating hormone (TSH) but a normal serum free thyroxine (FT4).\n", + " definition of HP:0008223 (Compensated hypothyroidism)\n", + " \n", + " \n", + " #Mild hypothyroidism #Subclinical hypothyroidism\n", + " definition of HP:0008223 (Compensated hypothyroidism)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the iris\n", + " definition of HP:0008053 (Aplasia/Hypoplasia of the iris)\n", + " \n", + " \n", + " Absence or underdevelopment of the iris.\n", + " definition of HP:0008053 (Aplasia/Hypoplasia of the iris)\n", + " \n", + " \n", + " #Absent/small iris #Absent/underdeveloped iris\n", + " definition of HP:0008053 (Aplasia/Hypoplasia of the iris)\n", + " \n", + " \n", + " Vocal tremor\n", + " definition of HP:0012477 (Vocal tremor)\n", + " \n", + " \n", + " A wavering, unsteady voice that reflects involuntary and approximately sinusoidal oscillation of motor unit firings of laryngeal muscles. Vocal tremor results in low frequency modulations of voice frequency or amplitude and intermittent voice instability.\n", + " definition of HP:0012477 (Vocal tremor)\n", + " \n", + " \n", + " #Shakey voice #Vocal tremor\n", + " definition of HP:0012477 (Vocal tremor)\n", + " \n", + " \n", + " Duffy Fyb positivity\n", + " definition of HP:0032375 (Duffy Fyb positivity)\n", + " \n", + " \n", + " Presence of the Duffy Fyb antigen.\n", + " definition of HP:0032375 (Duffy Fyb positivity)\n", + " \n", + " \n", + " Absent toe\n", + " definition of HP:0010760 (Absent toe)\n", + " \n", + " \n", + " Aplasia of a toe. That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues.\n", + " definition of HP:0010760 (Absent toe)\n", + " \n", + " \n", + " #Absent toe #Absent toes #Aplasia of toe\n", + " definition of HP:0010760 (Absent toe)\n", + " \n", + " \n", + " Bifid sternum\n", + " definition of HP:0010309 (Bifid sternum)\n", + " \n", + " \n", + " The sternal cleft is a rare congenital anomaly resulting from a fusion failure of the sternum.\n", + " definition of HP:0010309 (Bifid sternum)\n", + " \n", + " \n", + " #Sternal cleft\n", + " definition of HP:0010309 (Bifid sternum)\n", + " \n", + " \n", + " Spastic ataxia\n", + " definition of HP:0002497 (Spastic ataxia)\n", + " \n", + " \n", + " Abnormal sperm axoneme morphology\n", + " definition of HP:0033524 (Abnormal sperm axoneme morphology)\n", + " \n", + " \n", + " Abnormal structure of the sperm axonemal structure which consists of a ring of nine microtubular doublets and a central pair of microtubules, giving the classical 9+2 microtubular arrangement. The axoneme contains a central pair of microtubules (C1 and C2) that are connected by a bridge-like structure forming the central pair complex (CPC). Each of the nine outer doublets is composed of type A and B microtubules and connected by radial spokes to the CPC.\n", + " definition of HP:0033524 (Abnormal sperm axoneme morphology)\n", + " \n", + " \n", + " Focal aware emotional seizure\n", + " definition of HP:0032734 (Focal aware emotional seizure)\n", + " \n", + " \n", + " A focal emotional seizure during which awareness is retained throughout the seizure.\n", + " definition of HP:0032734 (Focal aware emotional seizure)\n", + " \n", + " \n", + " Abnormal intestine morphology\n", + " definition of HP:0002242 (Abnormal intestine morphology)\n", + " \n", + " \n", + " An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine.\n", + " definition of HP:0002242 (Abnormal intestine morphology)\n", + " \n", + " \n", + " #Abnormality of the intestine #Enteropathy\n", + " definition of HP:0002242 (Abnormal intestine morphology)\n", + " \n", + " \n", + " Plantar telangiectasia\n", + " definition of HP:0100870 (Plantar telangiectasia)\n", + " \n", + " \n", + " Telangiectases (small dilated blood vessels) located on the skin of sole of foot.\n", + " definition of HP:0100870 (Plantar telangiectasia)\n", + " \n", + " \n", + " #Plantar teleangiectasia #Telangiectases of soles #Teleangiectases of soles\n", + " definition of HP:0100870 (Plantar telangiectasia)\n", + " \n", + " \n", + " Decreased proportion of CD8-positive, alpha-beta memory T cells\n", + " definition of HP:0410385 (Decreased proportion of CD8-positive, alpha-beta memory T cells)\n", + " \n", + " \n", + " Decreased proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. A CD8-positive, alpha-beta T cell with memory phenotype is CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.\n", + " definition of HP:0410385 (Decreased proportion of CD8-positive, alpha-beta memory T cells)\n", + " \n", + " \n", + " Neoplasm by histology\n", + " definition of HP:0011792 (Neoplasm by histology)\n", + " \n", + " \n", + " Neoplasm categorized according to type of histological abnormality.\n", + " definition of HP:0011792 (Neoplasm by histology)\n", + " \n", + " \n", + " Paroxysmal dyskinesia\n", + " definition of HP:0007166 (Paroxysmal dyskinesia)\n", + " \n", + " \n", + " Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the attacks.\n", + " definition of HP:0007166 (Paroxysmal dyskinesia)\n", + " \n", + " \n", + " Sacral hypertrichosis\n", + " definition of HP:0004532 (Sacral hypertrichosis)\n", + " \n", + " \n", + " Excessive, increased hair growth located in the sacral region.\n", + " definition of HP:0004532 (Sacral hypertrichosis)\n", + " \n", + " \n", + " Progressive leg bowing\n", + " definition of HP:0006409 (Progressive leg bowing)\n", + " \n", + " \n", + " Progressive bending or abnormal curvature of the leg.\n", + " definition of HP:0006409 (Progressive leg bowing)\n", + " \n", + " \n", + " Spiral fracture\n", + " definition of HP:4000045 (Spiral fracture)\n", + " \n", + " \n", + " A type of fracture in which the break spirals around the bone.\n", + " definition of HP:4000045 (Spiral fracture)\n", + " \n", + " \n", + " Intraspinal extradural lipoma\n", + " definition of HP:6000996 (Intraspinal extradural lipoma)\n", + " \n", + " \n", + " A lipoma (a benign encapsulated mass with lobulated mature adipose tissue enclosed by fibrous tissue) located within the spine but outside of the dura mater.\n", + " definition of HP:6000996 (Intraspinal extradural lipoma)\n", + " \n", + " \n", + " Increased fecal calprotectin level\n", + " definition of HP:0034056 (Increased fecal calprotectin level)\n", + " \n", + " \n", + " An increased amount of calprotectin in the feces.\n", + " definition of HP:0034056 (Increased fecal calprotectin level)\n", + " \n", + " \n", + " Pancolitis\n", + " definition of HP:0033256 (Pancolitis)\n", + " \n", + " \n", + " Inflammation of the entire colon.\n", + " definition of HP:0033256 (Pancolitis)\n", + " \n", + " \n", + " Retrograde ejaculation\n", + " definition of HP:0012877 (Retrograde ejaculation)\n", + " \n", + " \n", + " The emission of semen and seminal fluid into the bladder instead of through the penis during orgasm.\n", + " definition of HP:0012877 (Retrograde ejaculation)\n", + " \n", + " \n", + " Abnormal parietal bone morphology\n", + " definition of HP:0002696 (Abnormal parietal bone morphology)\n", + " \n", + " \n", + " Any abnormality of the parietal bone of the skull.\n", + " definition of HP:0002696 (Abnormal parietal bone morphology)\n", + " \n", + " \n", + " #Abnormality of the parietal bone #Abnormality of the parietal bone of skull\n", + " definition of HP:0002696 (Abnormal parietal bone morphology)\n", + " \n", + " \n", + " Contracture of the proximal interphalangeal joint of the 3rd finger\n", + " definition of HP:0009471 (Contracture of the proximal interphalangeal joint of the 3rd finger)\n", + " \n", + " \n", + " Chronic loss of joint motion of the proximal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue.\n", + " definition of HP:0009471 (Contracture of the proximal interphalangeal joint of the 3rd finger)\n", + " \n", + " \n", + " #Camptodactyly of the 3rd finger #Camptodactyly of the third finger\n", + " definition of HP:0009471 (Contracture of the proximal interphalangeal joint of the 3rd finger)\n", + " \n", + " \n", + " Exercise-induced muscle stiffness\n", + " definition of HP:0008967 (Exercise-induced muscle stiffness)\n", + " \n", + " \n", + " A type of muscle stiffness that occurs following physical exertion.\n", + " definition of HP:0008967 (Exercise-induced muscle stiffness)\n", + " \n", + " \n", + " #Exercise-induced muscle stiffness #Muscle stiffness with exercise #Muscle stiffness, exercise-induced\n", + " definition of HP:0008967 (Exercise-induced muscle stiffness)\n", + " \n", + " \n", + " Anterior beaking of thoracic vertebrae\n", + " definition of HP:0004630 (Anterior beaking of thoracic vertebrae)\n", + " \n", + " \n", + " Anterior tongue-like protrusions of thoracic vertebral bodies.\n", + " definition of HP:0004630 (Anterior beaking of thoracic vertebrae)\n", + " \n", + " \n", + " Low alkaline phosphatase of bone origin\n", + " definition of HP:0010684 (Low alkaline phosphatase of bone origin)\n", + " \n", + " \n", + " An abnormally reduced level of bone isoforms of alkaline phosphatase in the blood.\n", + " definition of HP:0010684 (Low alkaline phosphatase of bone origin)\n", + " \n", + " \n", + " #Low ALP of bone origin\n", + " definition of HP:0010684 (Low alkaline phosphatase of bone origin)\n", + " \n", + " \n", + " Partial abdominal muscle agenesis\n", + " definition of HP:0005243 (Partial abdominal muscle agenesis)\n", + " \n", + " \n", + " Failure to form of portions of the abdominal musculature.\n", + " definition of HP:0005243 (Partial abdominal muscle agenesis)\n", + " \n", + " \n", + " Anhydramnios\n", + " definition of HP:0025700 (Anhydramnios)\n", + " \n", + " \n", + " A complete or near-complete lack of amniotic fluid surrounding a fetus. This finding can be observed sonographically in the third trimesters if the deepest pocket of amniotic fluid is less than or equal to 2 cm.\n", + " definition of HP:0025700 (Anhydramnios)\n", + " \n", + " \n", + " Abnormal stomach morphology\n", + " definition of HP:0002577 (Abnormal stomach morphology)\n", + " \n", + " \n", + " An abnormality of the stomach.\n", + " definition of HP:0002577 (Abnormal stomach morphology)\n", + " \n", + " \n", + " #Abnormality of the stomach\n", + " definition of HP:0002577 (Abnormal stomach morphology)\n", + " \n", + " \n", + " Elevated urinary isovalerylglycine level\n", + " definition of HP:6000602 (Elevated urinary isovalerylglycine level)\n", + " \n", + " \n", + " The amount of isovalerylglycine in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000602 (Elevated urinary isovalerylglycine level)\n", + " \n", + " \n", + " Large placenta\n", + " definition of HP:0006267 (Large placenta)\n", + " \n", + " \n", + " Increased size of the placenta.\n", + " definition of HP:0006267 (Large placenta)\n", + " \n", + " \n", + " #Large placenta #Placental enlargement\n", + " definition of HP:0006267 (Large placenta)\n", + " \n", + " \n", + " Refractory status epilepticus\n", + " definition of HP:0032867 (Refractory status epilepticus)\n", + " \n", + " \n", + " Refractory status epilepticus is defined as status epilepticus continuing despite two appropriately selected and dosed antiepileptic drugs, including a benzodiazepine.\n", + " definition of HP:0032867 (Refractory status epilepticus)\n", + " \n", + " \n", + " Spondylolysis\n", + " definition of HP:0003304 (Spondylolysis)\n", + " \n", + " \n", + " Spondylolysis is an osseous defect of the pars interarticularis, thought to be a developmental or acquired stress fracture secondary to chronic low-grade trauma.\n", + " definition of HP:0003304 (Spondylolysis)\n", + " \n", + " \n", + " Anti-H2A antibody positivity\n", + " definition of HP:0033575 (Anti-H2A antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies in the blood circulation that react against histone H2A.\n", + " definition of HP:0033575 (Anti-H2A antibody positivity)\n", + " \n", + " \n", + " Tachypnea\n", + " definition of HP:0002789 (Tachypnea)\n", + " \n", + " \n", + " Very rapid breathing.\n", + " definition of HP:0002789 (Tachypnea)\n", + " \n", + " \n", + " #Increased respiratory rate or depth of breathing #Polypnea\n", + " definition of HP:0002789 (Tachypnea)\n", + " \n", + " \n", + " Radial deviation of the 5th finger\n", + " definition of HP:0040020 (Radial deviation of the 5th finger)\n", + " \n", + " \n", + " Moderate intrauterine growth retardation\n", + " definition of HP:0011408 (Moderate intrauterine growth retardation)\n", + " \n", + " \n", + " Intrauterine growth retardation that is at least 3 standard deviations (SD) below average, but not as low as 4 SD, corrected for sex and gestational age.\n", + " definition of HP:0011408 (Moderate intrauterine growth retardation)\n", + " \n", + " \n", + " Periventricular cysts\n", + " definition of HP:0007109 (Periventricular cysts)\n", + " \n", + " \n", + " Abnormal circulating threonine concentration\n", + " definition of HP:0010900 (Abnormal circulating threonine concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of threonine in the blood circulation.\n", + " definition of HP:0010900 (Abnormal circulating threonine concentration)\n", + " \n", + " \n", + " #Abnormality of threonine metabolism\n", + " definition of HP:0010900 (Abnormal circulating threonine concentration)\n", + " \n", + " \n", + " Ewing sarcoma\n", + " definition of HP:0012254 (Ewing sarcoma)\n", + " \n", + " \n", + " A malignant tumor of the bone which always arises in the medullary tissue, occurring more often in cylindrical bones.\n", + " definition of HP:0012254 (Ewing sarcoma)\n", + " \n", + " \n", + " #Ewing's sarcoma\n", + " definition of HP:0012254 (Ewing sarcoma)\n", + " \n", + " \n", + " Abnormal helix morphology\n", + " definition of HP:0011039 (Abnormal helix morphology)\n", + " \n", + " \n", + " An abnormality of the helix. The helix is the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe.\n", + " definition of HP:0011039 (Abnormal helix morphology)\n", + " \n", + " \n", + " #Abnormal helices #Abnormality of the helix #Helix abnormal\n", + " definition of HP:0011039 (Abnormal helix morphology)\n", + " \n", + " \n", + " Onion bulb formation\n", + " definition of HP:0003383 (Onion bulb formation)\n", + " \n", + " \n", + " Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves.\n", + " definition of HP:0003383 (Onion bulb formation)\n", + " \n", + " \n", + " Anterior cervical hypertrichosis\n", + " definition of HP:0004535 (Anterior cervical hypertrichosis)\n", + " \n", + " \n", + " Anterior cervical hypertrichosis (ACH) or 'hairy throat' refers to the presence of a tuft of terminal hair on the anterior neck, just above the laryngeal prominence.\n", + " definition of HP:0004535 (Anterior cervical hypertrichosis)\n", + " \n", + " \n", + " #Congenital cervical hypertrichosis #Hypertrichosis, congenital anterior cervical\n", + " definition of HP:0004535 (Anterior cervical hypertrichosis)\n", + " \n", + " \n", + " Hypoplasia of olfactory tract\n", + " definition of HP:0007036 (Hypoplasia of olfactory tract)\n", + " \n", + " \n", + " #Underdeveloped olfactory tract\n", + " definition of HP:0007036 (Hypoplasia of olfactory tract)\n", + " \n", + " \n", + " Abnormal cellular phenotype\n", + " definition of HP:0025354 (Abnormal cellular phenotype)\n", + " \n", + " \n", + " An anomaly of cellular morphology or physiology.\n", + " definition of HP:0025354 (Abnormal cellular phenotype)\n", + " \n", + " \n", + " Posiitive rubella CSF culture\n", + " definition of HP:6000762 (Posiitive rubella CSF culture)\n", + " \n", + " \n", + " Growth of rubella virus in a culture derived from cerebrospinal fluid (CSF).\n", + " definition of HP:6000762 (Posiitive rubella CSF culture)\n", + " \n", + " \n", + " Abnormal circulating asparagine concentration\n", + " definition of HP:0500155 (Abnormal circulating asparagine concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of asparagine in the blood circulation.\n", + " definition of HP:0500155 (Abnormal circulating asparagine concentration)\n", + " \n", + " \n", + " #Abnormality of asparagine metabolism\n", + " definition of HP:0500155 (Abnormal circulating asparagine concentration)\n", + " \n", + " \n", + " Bracket epiphyses of the 3rd toe\n", + " definition of HP:0100056 (Bracket epiphyses of the 3rd toe)\n", + " \n", + " \n", + " #Bracket shaped end part of 3rd toe bone\n", + " definition of HP:0100056 (Bracket epiphyses of the 3rd toe)\n", + " \n", + " \n", + " Unexplained fevers\n", + " definition of HP:0001955 (Unexplained fevers)\n", + " \n", + " \n", + " Episodes of fever for which no infectious cause can be identified.\n", + " definition of HP:0001955 (Unexplained fevers)\n", + " \n", + " \n", + " #Unexplained fevers\n", + " definition of HP:0001955 (Unexplained fevers)\n", + " \n", + " \n", + " Enlarged cochlear aqueduct\n", + " definition of HP:0011388 (Enlarged cochlear aqueduct)\n", + " \n", + " \n", + " Increased size of the cochlear duct, i.e., of a duct that communicates between the perilymphatic space and the subarachnoid space, and transmits a vein from the cochlea to join the internal jugular.\n", + " definition of HP:0011388 (Enlarged cochlear aqueduct)\n", + " \n", + " \n", + " #Dilated cochlear aqueduct\n", + " definition of HP:0011388 (Enlarged cochlear aqueduct)\n", + " \n", + " \n", + " Abnormal hepatocyte morphology\n", + " definition of HP:0034713 (Abnormal hepatocyte morphology)\n", + " \n", + " \n", + " A structural anomaly of the hepatocyte, which is the main cell type that makes up the liver perncyhma. Hepatocytes are usually binucleated and appear as sheets in the liver tissue.\n", + " definition of HP:0034713 (Abnormal hepatocyte morphology)\n", + " \n", + " \n", + " Abnormality of inferior crus of antihelix\n", + " definition of HP:0011243 (Abnormality of inferior crus of antihelix)\n", + " \n", + " \n", + " An abnormality of the inferior crus of the antihelix is the lower cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa.\n", + " definition of HP:0011243 (Abnormality of inferior crus of antihelix)\n", + " \n", + " \n", + " #Abnormality of anterior crus of antihelix\n", + " definition of HP:0011243 (Abnormality of inferior crus of antihelix)\n", + " \n", + " \n", + " Autoamputation of digits\n", + " definition of HP:0007460 (Autoamputation of digits)\n", + " \n", + " \n", + " The spontaneous detachment of a digit (finger or toe) from the body due to long standing pathology.\n", + " definition of HP:0007460 (Autoamputation of digits)\n", + " \n", + " \n", + " Arcuate artery lumen organized thrombi\n", + " definition of HP:0033899 (Arcuate artery lumen organized thrombi)\n", + " \n", + " \n", + " Thrombi containing fibrous tissue and capillary-like vascular channels located within the lumen of the arcuate arteries of the kidney.\n", + " definition of HP:0033899 (Arcuate artery lumen organized thrombi)\n", + " \n", + " \n", + " #Organised thrombi within arcuate arterial lumen #Organized thrombi within arcuate arterial lumen\n", + " definition of HP:0033899 (Arcuate artery lumen organized thrombi)\n", + " \n", + " \n", + " Broad middle phalanx of the 5th finger\n", + " definition of HP:0009169 (Broad middle phalanx of the 5th finger)\n", + " \n", + " \n", + " Increased width of the middle phalanx of the 5th finger.\n", + " definition of HP:0009169 (Broad middle phalanx of the 5th finger)\n", + " \n", + " \n", + " #Broad middle bone of little finger #Broad middle bone of pinkie finger #Broad middle bone of pinky finger #Wide middle phalanx of the 5th finger\n", + " definition of HP:0009169 (Broad middle phalanx of the 5th finger)\n", + " \n", + " \n", + " Narrow joint spaces of the elbow\n", + " definition of HP:0003944 (Narrow joint spaces of the elbow)\n", + " \n", + " \n", + " #Narrow joint spaces of the elbow\n", + " definition of HP:0003944 (Narrow joint spaces of the elbow)\n", + " \n", + " \n", + " Small epiphysis of the middle phalanx of the 2nd toe\n", + " definition of HP:0100119 (Small epiphysis of the middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Small end part of the middle bone of the 2nd toe\n", + " definition of HP:0100119 (Small epiphysis of the middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " Esophageal varix\n", + " definition of HP:0002040 (Esophageal varix)\n", + " \n", + " \n", + " Extreme dilation of the submucusoal veins in the lower portion of the esophagus.\n", + " definition of HP:0002040 (Esophageal varix)\n", + " \n", + " \n", + " #Enlarged vein in esophagus #Enlarged vein in oesophagus\n", + " definition of HP:0002040 (Esophageal varix)\n", + " \n", + " \n", + " Fragmented elastic fibers in the dermis\n", + " definition of HP:0025167 (Fragmented elastic fibers in the dermis)\n", + " \n", + " \n", + " Elastic fibers in the dermis exhibit an increased number of breaks associated with disorganization of the structure of the elastic fibers.\n", + " definition of HP:0025167 (Fragmented elastic fibers in the dermis)\n", + " \n", + " \n", + " #Fragmented elastic fibres in the dermis\n", + " definition of HP:0025167 (Fragmented elastic fibers in the dermis)\n", + " \n", + " \n", + " Abnormal upper-limb motor evoked potentials\n", + " definition of HP:0012897 (Abnormal upper-limb motor evoked potentials)\n", + " \n", + " \n", + " An anomaly identified by motor evoked potentials (MEPs) in the arm.\n", + " definition of HP:0012897 (Abnormal upper-limb motor evoked potentials)\n", + " \n", + " \n", + " #Abnormal motor evoked potentials in the upper limb\n", + " definition of HP:0012897 (Abnormal upper-limb motor evoked potentials)\n", + " \n", + " \n", + " EEG with focal spikes\n", + " definition of HP:0011193 (EEG with focal spikes)\n", + " \n", + " \n", + " EEG with focal sharp transient waves of a duration less than 80 msec.\n", + " definition of HP:0011193 (EEG with focal spikes)\n", + " \n", + " \n", + " Hematocolpos\n", + " definition of HP:0031923 (Hematocolpos)\n", + " \n", + " \n", + " Accumulation of blood in the vagina usually due to vaginal obstruction.\n", + " definition of HP:0031923 (Hematocolpos)\n", + " \n", + " \n", + " #Haematocolpos\n", + " definition of HP:0031923 (Hematocolpos)\n", + " \n", + " \n", + " Neoplasm of the thyroid gland\n", + " definition of HP:0100031 (Neoplasm of the thyroid gland)\n", + " \n", + " \n", + " A tumor (abnormal growth of tissue) of the thyroid gland.\n", + " definition of HP:0100031 (Neoplasm of the thyroid gland)\n", + " \n", + " \n", + " Renal arteriole intima/media amyloidosis\n", + " definition of HP:0033900 (Renal arteriole intima/media amyloidosis)\n", + " \n", + " \n", + " Amorphous extracellular substance in the inner or middle layer of renal arterioles. Amyloidosis stains Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy.\n", + " definition of HP:0033900 (Renal arteriole intima/media amyloidosis)\n", + " \n", + " \n", + " #Amyloidosis within renal arteriolar intima/media\n", + " definition of HP:0033900 (Renal arteriole intima/media amyloidosis)\n", + " \n", + " \n", + " Absent eyebrow\n", + " definition of HP:0002223 (Absent eyebrow)\n", + " \n", + " \n", + " Absence of the eyebrow.\n", + " definition of HP:0002223 (Absent eyebrow)\n", + " \n", + " \n", + " #Absent eyebrow #Absent eyebrows #Failure of development of eyebrows\n", + " definition of HP:0002223 (Absent eyebrow)\n", + " \n", + " \n", + " Absent circulating B cells\n", + " definition of HP:0030252 (Absent circulating B cells)\n", + " \n", + " \n", + " Complete lack of mature B cells, that is, of B cells that have left the bone marrow.\n", + " definition of HP:0030252 (Absent circulating B cells)\n", + " \n", + " \n", + " #Absence of mature B cells\n", + " definition of HP:0030252 (Absent circulating B cells)\n", + " \n", + " \n", + " Severe\n", + " definition of HP:0012828 (Severe)\n", + " \n", + " \n", + " Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean.\n", + " definition of HP:0012828 (Severe)\n", + " \n", + " \n", + " #Severe\n", + " definition of HP:0012828 (Severe)\n", + " \n", + " \n", + " Pseudoepiphyses of the hallux\n", + " definition of HP:0010120 (Pseudoepiphyses of the hallux)\n", + " \n", + " \n", + " Small toe\n", + " definition of HP:0030031 (Small toe)\n", + " \n", + " \n", + " Significant reduction in both length and girth of the toe compared to the contralateral toe, or alternatively, compared to a typical toe size for an age-matched individual.\n", + " definition of HP:0030031 (Small toe)\n", + " \n", + " \n", + " #Small toe\n", + " definition of HP:0030031 (Small toe)\n", + " \n", + " \n", + " Acute pancreatitis\n", + " definition of HP:0001735 (Acute pancreatitis)\n", + " \n", + " \n", + " A acute form of pancreatitis.\n", + " definition of HP:0001735 (Acute pancreatitis)\n", + " \n", + " \n", + " #Acute pancreatic inflammation #Pancreatitis, acute\n", + " definition of HP:0001735 (Acute pancreatitis)\n", + " \n", + " \n", + " Nodular pattern on pulmonary HRCT\n", + " definition of HP:0025392 (Nodular pattern on pulmonary HRCT)\n", + " \n", + " \n", + " A nodular pattern is characterized on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter.\n", + " definition of HP:0025392 (Nodular pattern on pulmonary HRCT)\n", + " \n", + " \n", + " Serpiginous stem of antihelix\n", + " definition of HP:0011241 (Serpiginous stem of antihelix)\n", + " \n", + " \n", + " Posterior curving of the antihelix from its origin at the antitragus, traveling initially almost perpendicular to the descending helix and obscuring some of the concha.\n", + " definition of HP:0011241 (Serpiginous stem of antihelix)\n", + " \n", + " \n", + " #Antihelix, stem, serpiginous\n", + " definition of HP:0011241 (Serpiginous stem of antihelix)\n", + " \n", + " \n", + " Pheochromocytoma\n", + " definition of HP:0002666 (Pheochromocytoma)\n", + " \n", + " \n", + " Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines.\n", + " definition of HP:0002666 (Pheochromocytoma)\n", + " \n", + " \n", + " #Chromaffin tumors #Chromaffin tumours\n", + " definition of HP:0002666 (Pheochromocytoma)\n", + " \n", + " \n", + " Flattened humeral heads\n", + " definition of HP:0003888 (Flattened humeral heads)\n", + " \n", + " \n", + " #Flattended head of long bone in upper arm\n", + " definition of HP:0003888 (Flattened humeral heads)\n", + " \n", + " \n", + " Abnormal chorion morphology\n", + " definition of HP:0033042 (Abnormal chorion morphology)\n", + " \n", + " \n", + " Any structural anomaly of the fetal part of the placenta, which is known as the chorion.\n", + " definition of HP:0033042 (Abnormal chorion morphology)\n", + " \n", + " \n", + " Fractured metacarpus skeleton\n", + " definition of HP:0041119 (Fractured metacarpus skeleton)\n", + " \n", + " \n", + " A partial or complete breakage of the metacarpus skeleton.\n", + " definition of HP:0041119 (Fractured metacarpus skeleton)\n", + " \n", + " \n", + " #bone metacarpus skeleton\n", + " definition of HP:0041119 (Fractured metacarpus skeleton)\n", + " \n", + " \n", + " Viremia\n", + " definition of HP:0020071 (Viremia)\n", + " \n", + " \n", + " The presence of virus in the blood.\n", + " definition of HP:0020071 (Viremia)\n", + " \n", + " \n", + " Decreased lymphocyte proliferation in response to mitogen\n", + " definition of HP:0031381 (Decreased lymphocyte proliferation in response to mitogen)\n", + " \n", + " \n", + " A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with mitogens, such as phytohemagglutinin (PHA).\n", + " definition of HP:0031381 (Decreased lymphocyte proliferation in response to mitogen)\n", + " \n", + " \n", + " #Reduced lymphocyte proliferation to mitogen\n", + " definition of HP:0031381 (Decreased lymphocyte proliferation in response to mitogen)\n", + " \n", + " \n", + " Prostate neoplasm\n", + " definition of HP:0100787 (Prostate neoplasm)\n", + " \n", + " \n", + " Achilles tendon contracture\n", + " definition of HP:0001771 (Achilles tendon contracture)\n", + " \n", + " \n", + " A contracture of the Achilles tendon.\n", + " definition of HP:0001771 (Achilles tendon contracture)\n", + " \n", + " \n", + " #Achilles tendon contractures #Contractures of the Achilles tendon #Shortening of the achilles tendon #Tight achilles tendon\n", + " definition of HP:0001771 (Achilles tendon contracture)\n", + " \n", + " \n", + " Impaired feeding ability\n", + " definition of HP:0031063 (Impaired feeding ability)\n", + " \n", + " \n", + " Applies to an individual who needs partial or total help with feeding or requires parenteral feeding.\n", + " definition of HP:0031063 (Impaired feeding ability)\n", + " \n", + " \n", + " Chronic absent circulating IgE\n", + " definition of HP:0033023 (Chronic absent circulating IgE)\n", + " \n", + " \n", + " A lasting absence of immunoglobulin E (IgE) in the blood circulation, whereby at most trace quantities of IgE can be measured.\n", + " definition of HP:0033023 (Chronic absent circulating IgE)\n", + " \n", + " \n", + " #Chronic (near) absent IgE in blood\n", + " definition of HP:0033023 (Chronic absent circulating IgE)\n", + " \n", + " \n", + " Pulmonary capillary angioectasia\n", + " definition of HP:0033427 (Pulmonary capillary angioectasia)\n", + " \n", + " \n", + " Focal accumulation of dilated pulmonary capillaries.\n", + " definition of HP:0033427 (Pulmonary capillary angioectasia)\n", + " \n", + " \n", + " Irregular epiphyses\n", + " definition of HP:0010582 (Irregular epiphyses)\n", + " \n", + " \n", + " An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance.\n", + " definition of HP:0010582 (Irregular epiphyses)\n", + " \n", + " \n", + " #Irregular end part of long bone\n", + " definition of HP:0010582 (Irregular epiphyses)\n", + " \n", + " \n", + " Renal glomerular amyloid deposition\n", + " definition of HP:0032614 (Renal glomerular amyloid deposition)\n", + " \n", + " \n", + " Amyloid deposits located in the glomeruli in a focal segmental, diffuse segmental or diffuse global fashion. This abnormality can be accompanied by mesangial involvement and in later stages also involvement of the peripheral capillaries.\n", + " definition of HP:0032614 (Renal glomerular amyloid deposition)\n", + " \n", + " \n", + " Hematuria\n", + " definition of HP:0000790 (Hematuria)\n", + " \n", + " \n", + " The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).\n", + " definition of HP:0000790 (Hematuria)\n", + " \n", + " \n", + " #Blood in urine\n", + " definition of HP:0000790 (Hematuria)\n", + " \n", + " \n", + " Pica\n", + " definition of HP:0011856 (Pica)\n", + " \n", + " \n", + " An appetite for and the persistent ingestion of non-food substances such as clay. In order to diagnose pica, this behavior must have persisted over a period of at least one month.\n", + " definition of HP:0011856 (Pica)\n", + " \n", + " \n", + " Acellular urinary casts\n", + " definition of HP:0031199 (Acellular urinary casts)\n", + " \n", + " \n", + " A type of urinary cast composed of a proteinaceous matrix without a substantial number of cells.\n", + " definition of HP:0031199 (Acellular urinary casts)\n", + " \n", + " \n", + " #Acellular casts\n", + " definition of HP:0031199 (Acellular urinary casts)\n", + " \n", + " \n", + " Decreased FasL-mediated apoptosis\n", + " definition of HP:4000057 (Decreased FasL-mediated apoptosis)\n", + " \n", + " \n", + " A reduced amount of programmed cell death upon stimulation of the FAS receptor, which normally induces caspase-8 dependent apoptosis.\n", + " definition of HP:4000057 (Decreased FasL-mediated apoptosis)\n", + " \n", + " \n", + " Cleft upper lip\n", + " definition of HP:0000204 (Cleft upper lip)\n", + " \n", + " \n", + " A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.\n", + " definition of HP:0000204 (Cleft upper lip)\n", + " \n", + " \n", + " #Cheiloschisis of upper lip #Cleft upper lip #Harelip\n", + " definition of HP:0000204 (Cleft upper lip)\n", + " \n", + " \n", + " Elevated forced expiratory volume in one second\n", + " definition of HP:0033350 (Elevated forced expiratory volume in one second)\n", + " \n", + " \n", + " An increase in the amount of air a person can forcefully expel in one second, compared to some standard or previous measure of same subject.\n", + " definition of HP:0033350 (Elevated forced expiratory volume in one second)\n", + " \n", + " \n", + " #Elevated FEV1\n", + " definition of HP:0033350 (Elevated forced expiratory volume in one second)\n", + " \n", + " \n", + " Positive nasopharyngeal corynebacterium diphtheriae nucleic acid test\n", + " definition of HP:6000742 (Positive nasopharyngeal corynebacterium diphtheriae nucleic acid test)\n", + " \n", + " \n", + " Detection of nucleic acid of Corynebacterium diphtheriae in nasopharyngeal secretions by a method such as polymerase chain reaction (PCR).\n", + " definition of HP:6000742 (Positive nasopharyngeal corynebacterium diphtheriae nucleic acid test)\n", + " \n", + " \n", + " Radially deviated wrists\n", + " definition of HP:0006190 (Radially deviated wrists)\n", + " \n", + " \n", + " Absent proximal phalanx of the 3rd toe\n", + " definition of HP:0100384 (Absent proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Absence of proximal phalanx of third toe, owing to a congenital defect of development.\n", + " definition of HP:0100384 (Absent proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Absent innermost bone of the 3rd toe #Aplasia of the proximal phalanx of the 3rd toe\n", + " definition of HP:0100384 (Absent proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Reduced short-chain acyl-CoA dehydrogenase activity\n", + " definition of HP:0034690 (Reduced short-chain acyl-CoA dehydrogenase activity)\n", + " \n", + " \n", + " Diminished activity of the enzyme Short-chain acyl-CoA dehydrogenase (SCAD), a key enzyme of fatty acid beta-oxidation that catalyzes the first step in mitochondrial beta-oxidation of fatty acids.\n", + " definition of HP:0034690 (Reduced short-chain acyl-CoA dehydrogenase activity)\n", + " \n", + " \n", + " Abnormal arcuate artery morphology\n", + " definition of HP:0033837 (Abnormal arcuate artery morphology)\n", + " \n", + " \n", + " Anomalous structure of the arc-shaped arteries located at the border of the renal cortex and renal medulla.\n", + " definition of HP:0033837 (Abnormal arcuate artery morphology)\n", + " \n", + " \n", + " #Abnormalities of arcuate arteries\n", + " definition of HP:0033837 (Abnormal arcuate artery morphology)\n", + " \n", + " \n", + " Ureteral dysgenesis\n", + " definition of HP:0008631 (Ureteral dysgenesis)\n", + " \n", + " \n", + " A developmental anomaly of the ureter.\n", + " definition of HP:0008631 (Ureteral dysgenesis)\n", + " \n", + " \n", + " Ivory epiphyses of the metacarpals\n", + " definition of HP:0009191 (Ivory epiphyses of the metacarpals)\n", + " \n", + " \n", + " Sclerosis of the epiphyses of the metacarpals, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.\n", + " definition of HP:0009191 (Ivory epiphyses of the metacarpals)\n", + " \n", + " \n", + " #Increased bone density of end part of the long bone of hands\n", + " definition of HP:0009191 (Ivory epiphyses of the metacarpals)\n", + " \n", + " \n", + " Unusual dermatoglyphics\n", + " definition of HP:0007560 (Unusual dermatoglyphics)\n", + " \n", + " \n", + " Enlarged metaphyses\n", + " definition of HP:0003051 (Enlarged metaphyses)\n", + " \n", + " \n", + " Abnormal increase in size of one or more metaphyses.\n", + " definition of HP:0003051 (Enlarged metaphyses)\n", + " \n", + " \n", + " #Enlarged wide portion of a long bone\n", + " definition of HP:0003051 (Enlarged metaphyses)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the cervical spine\n", + " definition of HP:0011041 (Aplasia/Hypoplasia of the cervical spine)\n", + " \n", + " \n", + " Aplasia or developmental hypoplasia of the cervical vertebral column.\n", + " definition of HP:0011041 (Aplasia/Hypoplasia of the cervical spine)\n", + " \n", + " \n", + " #Absent/small cervical spine #Absent/underdeveloped cervical spine\n", + " definition of HP:0011041 (Aplasia/Hypoplasia of the cervical spine)\n", + " \n", + " \n", + " Patella alta\n", + " definition of HP:0034186 (Patella alta)\n", + " \n", + " \n", + " Patella alta is a patella that rides abnormally high in relation to the femur, the femoral trochlea, or the tibia, with decreased bony stability requiring increased knee flexion angles to engage the trochlea.\n", + " definition of HP:0034186 (Patella alta)\n", + " \n", + " \n", + " Vertebral wedging\n", + " definition of HP:0008422 (Vertebral wedging)\n", + " \n", + " \n", + " An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other.\n", + " definition of HP:0008422 (Vertebral wedging)\n", + " \n", + " \n", + " #anterior wedging #Wedge-shaped vertebrae #Wedged vertebrae\n", + " definition of HP:0008422 (Vertebral wedging)\n", + " \n", + " \n", + " Positive pathergy test\n", + " definition of HP:0025532 (Positive pathergy test)\n", + " \n", + " \n", + " With the pathergy test, a small, sterile needle is inserted into the skin of the forearm. The site of injectionis circuled and observed after one and two days. If a small red bump or pustule at the site of needle insertion occurs, the pathergy test is considered to have a positive (abnormal) result.\n", + " definition of HP:0025532 (Positive pathergy test)\n", + " \n", + " \n", + " Abnormal urine phosphate concentration\n", + " definition of HP:0012599 (Abnormal urine phosphate concentration)\n", + " \n", + " \n", + " An abnormal phosphate concentration in the urine.\n", + " definition of HP:0012599 (Abnormal urine phosphate concentration)\n", + " \n", + " \n", + " Abnormal pancreatic duct morphology\n", + " definition of HP:0030992 (Abnormal pancreatic duct morphology)\n", + " \n", + " \n", + " Any structural anomaly of the pancreatic duct, which is the tubular structure that collects exocrine pancreatic secretions and transports them to the duodenum.\n", + " definition of HP:0030992 (Abnormal pancreatic duct morphology)\n", + " \n", + " \n", + " Carotid artery stenosis\n", + " definition of HP:0100546 (Carotid artery stenosis)\n", + " \n", + " \n", + " Narrowing of the carotid arteries.\n", + " definition of HP:0100546 (Carotid artery stenosis)\n", + " \n", + " \n", + " #Carotid stenosis #Narrowing of carotid artery\n", + " definition of HP:0100546 (Carotid artery stenosis)\n", + " \n", + " \n", + " Fifth metacarpal with ulnar notch\n", + " definition of HP:0005900 (Fifth metacarpal with ulnar notch)\n", + " \n", + " \n", + " Presence of an angular or V -shaped indentation on the ulnar side of the fifth metacarpal bone (i.e., on the sides towards the fifth finger).\n", + " definition of HP:0005900 (Fifth metacarpal with ulnar notch)\n", + " \n", + " \n", + " #Fifth metacarpal notched on ulnar side\n", + " definition of HP:0005900 (Fifth metacarpal with ulnar notch)\n", + " \n", + " \n", + " Abnormality of the tibial plateaux\n", + " definition of HP:0003832 (Abnormality of the tibial plateaux)\n", + " \n", + " \n", + " Decreased peak expiratory flow\n", + " definition of HP:0032355 (Decreased peak expiratory flow)\n", + " \n", + " \n", + " A reduction in the maximum expiratory flow per minute, which can be used to measure how fast a subject can exhale as well as to judge the strength of the expiratory muscles and the condition of the large airways.\n", + " definition of HP:0032355 (Decreased peak expiratory flow)\n", + " \n", + " \n", + " Patchy sclerosis of thumb phalanx\n", + " definition of HP:0009655 (Patchy sclerosis of thumb phalanx)\n", + " \n", + " \n", + " An uneven increase in bone density of one or more of the phalanges of the thumb.\n", + " definition of HP:0009655 (Patchy sclerosis of thumb phalanx)\n", + " \n", + " \n", + " #Patchy sclerosis of the phalanges of the thumb #Uneven increase in bone density in thumb bone\n", + " definition of HP:0009655 (Patchy sclerosis of thumb phalanx)\n", + " \n", + " \n", + " Increased anti-meat allergen IgE antibody level\n", + " definition of HP:0410233 (Increased anti-meat allergen IgE antibody level)\n", + " \n", + " \n", + " Increased level of IgE antibody against meat, such as mammalian meat, including beef or pork, or poultry, like duck or chicken.\n", + " definition of HP:0410233 (Increased anti-meat allergen IgE antibody level)\n", + " \n", + " \n", + " EEG with generalized slow activity\n", + " definition of HP:0010845 (EEG with generalized slow activity)\n", + " \n", + " \n", + " Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG).\n", + " definition of HP:0010845 (EEG with generalized slow activity)\n", + " \n", + " \n", + " #EEG with generalised slow activity #EEG: generalised slow activity #EEG: generalized slow activity\n", + " definition of HP:0010845 (EEG with generalized slow activity)\n", + " \n", + " \n", + " Nonexudative conjunctivitis\n", + " definition of HP:6000843 (Nonexudative conjunctivitis)\n", + " \n", + " \n", + " A type of conjunctivitis that is not characterized by appreciable exudate, i.e., fluid, cells, or other substances that have escaped from blood vessels and have been deposited around the eyelids.\n", + " definition of HP:6000843 (Nonexudative conjunctivitis)\n", + " \n", + " \n", + " Recurrent coughing spasms\n", + " definition of HP:0033362 (Recurrent coughing spasms)\n", + " \n", + " \n", + " Repeated occurrence of episodes of coughing, with each episode consisting of at least five minutes of continuous coughing.\n", + " definition of HP:0033362 (Recurrent coughing spasms)\n", + " \n", + " \n", + " Anisospondyly\n", + " definition of HP:0002879 (Anisospondyly)\n", + " \n", + " \n", + " Abnormally increased variability of the size of the vertebral bodies.\n", + " definition of HP:0002879 (Anisospondyly)\n", + " \n", + " \n", + " Ventral shortening of foreskin\n", + " definition of HP:0012435 (Ventral shortening of foreskin)\n", + " \n", + " \n", + " Reduction in length of the ventral (lower) skin of prepuce of penis.\n", + " definition of HP:0012435 (Ventral shortening of foreskin)\n", + " \n", + " \n", + " Ameliorated by oral zinc supplementation\n", + " definition of HP:4000103 (Ameliorated by oral zinc supplementation)\n", + " \n", + " \n", + " Applies to a sign or symptom that is improved or made more bearable by oral zinc supplementation.\n", + " definition of HP:4000103 (Ameliorated by oral zinc supplementation)\n", + " \n", + " \n", + " #Zinc oral supplementation produces improvement\n", + " definition of HP:4000103 (Ameliorated by oral zinc supplementation)\n", + " \n", + " \n", + " Neoplasm of the larynx\n", + " definition of HP:0100605 (Neoplasm of the larynx)\n", + " \n", + " \n", + " Increased circulating complement factor H related protein 1 concentration\n", + " definition of HP:0033300 (Increased circulating complement factor H related protein 1 concentration)\n", + " \n", + " \n", + " Elevated level of circulating complement factor H related protein 1 concentration in the blood circulation.\n", + " definition of HP:0033300 (Increased circulating complement factor H related protein 1 concentration)\n", + " \n", + " \n", + " Abnormality of the epiphysis of the proximal phalanx of the 4th toe\n", + " definition of HP:0100096 (Abnormality of the epiphysis of the proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " #Abnormality of the end part of the innermost bone of the 4th toe\n", + " definition of HP:0100096 (Abnormality of the epiphysis of the proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " Oligodontia of primary teeth\n", + " definition of HP:0012225 (Oligodontia of primary teeth)\n", + " \n", + " \n", + " Reduced number of primary teeth.\n", + " definition of HP:0012225 (Oligodontia of primary teeth)\n", + " \n", + " \n", + " #Failure of development of some deciduous teeth #Failure of development of some primary teeth #Partial anodontia of deciduous teeth #Partial anodontia of primary teeth\n", + " definition of HP:0012225 (Oligodontia of primary teeth)\n", + " \n", + " \n", + " Abnormal urine chloride concentration\n", + " definition of HP:0012600 (Abnormal urine chloride concentration)\n", + " \n", + " \n", + " An abnormal concentration of chloride in the urine.\n", + " definition of HP:0012600 (Abnormal urine chloride concentration)\n", + " \n", + " \n", + " #Abnormal urine Cl concentration #Abnormal urine Cl- concentration\n", + " definition of HP:0012600 (Abnormal urine chloride concentration)\n", + " \n", + " \n", + " Sclerosis of the middle phalanx of the 4th toe\n", + " definition of HP:0100937 (Sclerosis of the middle phalanx of the 4th toe)\n", + " \n", + " \n", + " #Increased bone density in the middle bone of the 4th toe\n", + " definition of HP:0100937 (Sclerosis of the middle phalanx of the 4th toe)\n", + " \n", + " \n", + " Increased pineal volume\n", + " definition of HP:0012686 (Increased pineal volume)\n", + " \n", + " \n", + " An abnormal elevation in the quantity of three-dimensional space taken up by the pineal gland.\n", + " definition of HP:0012686 (Increased pineal volume)\n", + " \n", + " \n", + " Yellow/white lesions of the macula\n", + " definition of HP:0030500 (Yellow/white lesions of the macula)\n", + " \n", + " \n", + " Retinopathy of prematurity prethreshold\n", + " definition of HP:0500065 (Retinopathy of prematurity prethreshold)\n", + " \n", + " \n", + " High risk patients who were in Zone 1 (no Plus or stage 3) or Zone 2 with Plus or stage 3 but not both.\n", + " definition of HP:0500065 (Retinopathy of prematurity prethreshold)\n", + " \n", + " \n", + " #ROP prethreshold\n", + " definition of HP:0500065 (Retinopathy of prematurity prethreshold)\n", + " \n", + " \n", + " Nasal dryness\n", + " definition of HP:0033521 (Nasal dryness)\n", + " \n", + " \n", + " A lack of humidification of the nasal mucosa.\n", + " definition of HP:0033521 (Nasal dryness)\n", + " \n", + " \n", + " Labial hemangioma\n", + " definition of HP:0410269 (Labial hemangioma)\n", + " \n", + " \n", + " A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the upper lip.\n", + " definition of HP:0410269 (Labial hemangioma)\n", + " \n", + " \n", + " Decreased circulating aspartic acid concentration\n", + " definition of HP:0034441 (Decreased circulating aspartic acid concentration)\n", + " \n", + " \n", + " An reduced concentration of aspartic acid in the blood circulation.\n", + " definition of HP:0034441 (Decreased circulating aspartic acid concentration)\n", + " \n", + " \n", + " #Aspartic acid low in blood\n", + " definition of HP:0034441 (Decreased circulating aspartic acid concentration)\n", + " \n", + " \n", + " Abnormal change in sexual drive\n", + " definition of HP:0025793 (Abnormal change in sexual drive)\n", + " \n", + " \n", + " An abnormal change in libido (sexual desire), typically accompanied by an altered frequency of sexual activity compared to from a person's previous norm.\n", + " definition of HP:0025793 (Abnormal change in sexual drive)\n", + " \n", + " \n", + " Acetabular spurs\n", + " definition of HP:0010454 (Acetabular spurs)\n", + " \n", + " \n", + " The presence of osteophytes (bone spurs), i.e., of bony projections originating from the acetabulum.\n", + " definition of HP:0010454 (Acetabular spurs)\n", + " \n", + " \n", + " Congenital intracerebral calcification\n", + " definition of HP:0006906 (Congenital intracerebral calcification)\n", + " \n", + " \n", + " The presence of calcium deposition within brain structures that is present already at the time of birth.\n", + " definition of HP:0006906 (Congenital intracerebral calcification)\n", + " \n", + " \n", + " Scapular muscle hypertrophy\n", + " definition of HP:0012895 (Scapular muscle hypertrophy)\n", + " \n", + " \n", + " Muscle hypertrophy affecting the scapular muscles.\n", + " definition of HP:0012895 (Scapular muscle hypertrophy)\n", + " \n", + " \n", + " Spurred humeral metaphysis\n", + " definition of HP:0003922 (Spurred humeral metaphysis)\n", + " \n", + " \n", + " #Spurred metaphysis of long bone of upper arm\n", + " definition of HP:0003922 (Spurred humeral metaphysis)\n", + " \n", + " \n", + " Parietal foramina\n", + " definition of HP:0002697 (Parietal foramina)\n", + " \n", + " \n", + " The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide.\n", + " definition of HP:0002697 (Parietal foramina)\n", + " \n", + " \n", + " #Persistent foramina of the parietal bones #Symmetrical, oval defects in the parietal bone #Symmetrical, oval parietal bone defects\n", + " definition of HP:0002697 (Parietal foramina)\n", + " \n", + " \n", + " Relative macrocephaly\n", + " definition of HP:0004482 (Relative macrocephaly)\n", + " \n", + " \n", + " A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account.\n", + " definition of HP:0004482 (Relative macrocephaly)\n", + " \n", + " \n", + " #Disproportionately large head #Macrocephaly, relative #Relatively large head\n", + " definition of HP:0004482 (Relative macrocephaly)\n", + " \n", + " \n", + " Hypoplastic heart\n", + " definition of HP:0001961 (Hypoplastic heart)\n", + " \n", + " \n", + " #Small heart #Underdeveloped heart\n", + " definition of HP:0001961 (Hypoplastic heart)\n", + " \n", + " \n", + " Elevated right ventricular systolic pressure\n", + " definition of HP:0033119 (Elevated right ventricular systolic pressure)\n", + " \n", + " \n", + " Elevation of right ventricular systolic pressure (RVSP) above normal limits. In adults, RVSP is normally 20-30 mmHg.\n", + " definition of HP:0033119 (Elevated right ventricular systolic pressure)\n", + " \n", + " \n", + " Blunted aldosterone response to aldosterone suppression test\n", + " definition of HP:6000362 (Blunted aldosterone response to aldosterone suppression test)\n", + " \n", + " \n", + " A non-suppressible aldosterone excess, defined as an abnormal result of one of any four suppression tests. These tests use oral sodium loading, oral fludrocortisone, oral captopril, or saline infusion to suppress aldosterone secretion.\n", + " definition of HP:6000362 (Blunted aldosterone response to aldosterone suppression test)\n", + " \n", + " \n", + " Increased axial length of the globe\n", + " definition of HP:0007800 (Increased axial length of the globe)\n", + " \n", + " \n", + " Abnormal largeness of the eye with an axial length > 2.5 standard deviations from population mean.\n", + " definition of HP:0007800 (Increased axial length of the globe)\n", + " \n", + " \n", + " #Globe elongated #Increased axial globe length #Increased front to back length of eyeball\n", + " definition of HP:0007800 (Increased axial length of the globe)\n", + " \n", + " \n", + " Positive bloodstream babesia nucleic acid pathogen test\n", + " definition of HP:6000736 (Positive bloodstream babesia nucleic acid pathogen test)\n", + " \n", + " \n", + " Detection of nucleic acid of genus Babesia (parasite) in the blood circulation by a method such as polymerase chain reaction (PCR).\n", + " definition of HP:6000736 (Positive bloodstream babesia nucleic acid pathogen test)\n", + " \n", + " \n", + " Orthopnea\n", + " definition of HP:0012764 (Orthopnea)\n", + " \n", + " \n", + " A sensation of breathlessness in the recumbent position, relieved by sitting or standing.\n", + " definition of HP:0012764 (Orthopnea)\n", + " \n", + " \n", + " Arcuate vein lumen cholesterol emboli\n", + " definition of HP:0033876 (Arcuate vein lumen cholesterol emboli)\n", + " \n", + " \n", + " Needle-like or slit-like clefts within the interior space of arcuate veins of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.\n", + " definition of HP:0033876 (Arcuate vein lumen cholesterol emboli)\n", + " \n", + " \n", + " #Cholesterol emboli within arcuate vein lumen\n", + " definition of HP:0033876 (Arcuate vein lumen cholesterol emboli)\n", + " \n", + " \n", + " Maternal retinal mottling\n", + " definition of HP:6001041 (Maternal retinal mottling)\n", + " \n", + " \n", + " Mottling (spots or blotches with different shades) of the retinal pigment epithelium in the mother of the index patient. Retinal mottling may indicate a mosaic X-linked inactivation state in the mother.\n", + " definition of HP:6001041 (Maternal retinal mottling)\n", + " \n", + " \n", + " Myotonia\n", + " definition of HP:0002486 (Myotonia)\n", + " \n", + " \n", + " An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation.\n", + " definition of HP:0002486 (Myotonia)\n", + " \n", + " \n", + " #Delayed relaxation of muscle fibers after contraction #Delayed relaxation of muscle fibres after contraction\n", + " definition of HP:0002486 (Myotonia)\n", + " \n", + " \n", + " Hypoplastic ischiopubic ramus\n", + " definition of HP:0008822 (Hypoplastic ischiopubic ramus)\n", + " \n", + " \n", + " Underdevelopment of the ischiopubic ramus, which is comprised of the inferior pubic ramus and the inferior ramus of the ischium.\n", + " definition of HP:0008822 (Hypoplastic ischiopubic ramus)\n", + " \n", + " \n", + " #Hypoplastic ischiopubic rami\n", + " definition of HP:0008822 (Hypoplastic ischiopubic ramus)\n", + " \n", + " \n", + " Reduced urinary inosine level\n", + " definition of HP:0033159 (Reduced urinary inosine level)\n", + " \n", + " \n", + " The amount of inosine in the urine, normalized for urine concentration, is below the lower limit of normal. Inosine is a purine nucleoside in which hypoxanthine is attached to ribofuranose via a beta-N(9)-glycosidic bond.\n", + " definition of HP:0033159 (Reduced urinary inosine level)\n", + " \n", + " \n", + " Increased monosialylated core 1 O-glycan level\n", + " definition of HP:0410363 (Increased monosialylated core 1 O-glycan level)\n", + " \n", + " \n", + " An abnormal increase in the concentration of monosialylated core 1 O-glycans on glycoproteins.\n", + " definition of HP:0410363 (Increased monosialylated core 1 O-glycan level)\n", + " \n", + " \n", + " #Increased sialyl T-antigen concentration\n", + " definition of HP:0410363 (Increased monosialylated core 1 O-glycan level)\n", + " \n", + " \n", + " Amniotic Sheet\n", + " definition of HP:0030763 (Amniotic Sheet)\n", + " \n", + " \n", + " A sheet like projection that can result from uterine synechiae that has been encompassed by the expanding chorion and amnion.\n", + " definition of HP:0030763 (Amniotic Sheet)\n", + " \n", + " \n", + " #Amniotic shelf\n", + " definition of HP:0030763 (Amniotic Sheet)\n", + " \n", + " \n", + " Abnormal sperm morphology\n", + " definition of HP:0012864 (Abnormal sperm morphology)\n", + " \n", + " \n", + " A structural anomaly of sperm.\n", + " definition of HP:0012864 (Abnormal sperm morphology)\n", + " \n", + " \n", + " #Abnormal shape of sperm #Teratospermia #Teratozoospermia\n", + " definition of HP:0012864 (Abnormal sperm morphology)\n", + " \n", + " \n", + " Decreased urine creatinine level\n", + " definition of HP:6000115 (Decreased urine creatinine level)\n", + " \n", + " \n", + " The amount of creatinine in the urine, normalized for urine concentration, is below the lower limit of normal.\n", + " definition of HP:6000115 (Decreased urine creatinine level)\n", + " \n", + " \n", + " Bilateral wrist flexion contracture\n", + " definition of HP:0012453 (Bilateral wrist flexion contracture)\n", + " \n", + " \n", + " A chronic loss of wrist joint motion on the right and left sides.\n", + " definition of HP:0012453 (Bilateral wrist flexion contracture)\n", + " \n", + " \n", + " Abnormality of the joint spaces of the elbow\n", + " definition of HP:0003943 (Abnormality of the joint spaces of the elbow)\n", + " \n", + " \n", + " #Abnormality of the joint spaces of the elbow\n", + " definition of HP:0003943 (Abnormality of the joint spaces of the elbow)\n", + " \n", + " \n", + " Calcium nephrolithiasis\n", + " definition of HP:0004724 (Calcium nephrolithiasis)\n", + " \n", + " \n", + " The presence of calcium-containing calculi (stones) in the kidneys.\n", + " definition of HP:0004724 (Calcium nephrolithiasis)\n", + " \n", + " \n", + " #Ca kidney stone #Ca nephrolithiasis #Ca2+ kidney stone #Ca2+ nephrolithiasis #Calcium kidney stone\n", + " definition of HP:0004724 (Calcium nephrolithiasis)\n", + " \n", + " \n", + " Triangular shaped middle phalanges of the hand\n", + " definition of HP:0009850 (Triangular shaped middle phalanges of the hand)\n", + " \n", + " \n", + " #Triangular shaped middle finger bones of the hand\n", + " definition of HP:0009850 (Triangular shaped middle phalanges of the hand)\n", + " \n", + " \n", + " Cortical thickening of the forearm bones\n", + " definition of HP:0003957 (Cortical thickening of the forearm bones)\n", + " \n", + " \n", + " Increased salivary cortisol level\n", + " definition of HP:0033015 (Increased salivary cortisol level)\n", + " \n", + " \n", + " Abnormally elevated concentration of cortisol in saliva.\n", + " definition of HP:0033015 (Increased salivary cortisol level)\n", + " \n", + " \n", + " Hyperpigmented nevi and streak\n", + " definition of HP:0005606 (Hyperpigmented nevi and streak)\n", + " \n", + " \n", + " Tented upper lip vermilion\n", + " definition of HP:0010804 (Tented upper lip vermilion)\n", + " \n", + " \n", + " Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base.\n", + " definition of HP:0010804 (Tented upper lip vermilion)\n", + " \n", + " \n", + " #Inverted V-shaped upper lip\n", + " definition of HP:0010804 (Tented upper lip vermilion)\n", + " \n", + " \n", + " Leucinuria\n", + " definition of HP:0032353 (Leucinuria)\n", + " \n", + " \n", + " Increased level of leucine in urine.\n", + " definition of HP:0032353 (Leucinuria)\n", + " \n", + " \n", + " Abnormal 3rd metacarpal epiphysis morphology\n", + " definition of HP:0010222 (Abnormal 3rd metacarpal epiphysis morphology)\n", + " \n", + " \n", + " Any abnormality of the epiphysis of the third metacarpal bone.\n", + " definition of HP:0010222 (Abnormal 3rd metacarpal epiphysis morphology)\n", + " \n", + " \n", + " #Abnormality of the end part of the 3rd long bone of hand #Abnormality of the epiphysis of the 3rd metacarpal\n", + " definition of HP:0010222 (Abnormal 3rd metacarpal epiphysis morphology)\n", + " \n", + " \n", + " Abnormality of hair pigmentation\n", + " definition of HP:0009887 (Abnormality of hair pigmentation)\n", + " \n", + " \n", + " An abnormality of hair pigmentation (color).\n", + " definition of HP:0009887 (Abnormality of hair pigmentation)\n", + " \n", + " \n", + " #Abnormality of hair color #Abnormality of hair colour #Abnormality of hair pigmentation\n", + " definition of HP:0009887 (Abnormality of hair pigmentation)\n", + " \n", + " \n", + " Axenfeld anomaly\n", + " definition of HP:0001492 (Axenfeld anomaly)\n", + " \n", + " \n", + " Axenfeld's anomaly is a bilateral disorder characterized by a prominent, anteriorly displaced Schwalbe's line (posterior embryotoxon) and peripheral iris strands which span the anterior chamber angle to attach to Schwalbe's line.\n", + " definition of HP:0001492 (Axenfeld anomaly)\n", + " \n", + " \n", + " Greenstick fracture\n", + " definition of HP:4000043 (Greenstick fracture)\n", + " \n", + " \n", + " A type of fracture in which the broken bone is not completely separated.\n", + " definition of HP:4000043 (Greenstick fracture)\n", + " \n", + " \n", + " #Incomplete fracture\n", + " definition of HP:4000043 (Greenstick fracture)\n", + " \n", + " \n", + " Impaired platelet adhesion\n", + " definition of HP:0008352 (Impaired platelet adhesion)\n", + " \n", + " \n", + " An abnormality of adhesion of thrombocytes. Normally, platelets adhere to collagen in the vascular subendothelium within seconds of injury via a receptor made up of glycoprotein Ia and IIa and GPVI and to vWF via receptor GPIb/IX/V. The adherent platelets then release granules that lead to platelet activation and aggregation.\n", + " definition of HP:0008352 (Impaired platelet adhesion)\n", + " \n", + " \n", + " #Impaired thrombocytes adhesion\n", + " definition of HP:0008352 (Impaired platelet adhesion)\n", + " \n", + " \n", + " Aplastic clavicle\n", + " definition of HP:0006660 (Aplastic clavicle)\n", + " \n", + " \n", + " Absence of the clavicles as a developmental defect.\n", + " definition of HP:0006660 (Aplastic clavicle)\n", + " \n", + " \n", + " #Absent clavicles #Absent collarbone #Aplastic clavicles\n", + " definition of HP:0006660 (Aplastic clavicle)\n", + " \n", + " \n", + " History of adrenalectomy\n", + " definition of HP:6000194 (History of adrenalectomy)\n", + " \n", + " \n", + " A past medical history of having had a surgical procedure to remove the adrenal glands.\n", + " definition of HP:6000194 (History of adrenalectomy)\n", + " \n", + " \n", + " Alkaline urine\n", + " definition of HP:0032944 (Alkaline urine)\n", + " \n", + " \n", + " Urine pH of 8 or higher.\n", + " definition of HP:0032944 (Alkaline urine)\n", + " \n", + " \n", + " Hepatomegaly\n", + " definition of HP:0002240 (Hepatomegaly)\n", + " \n", + " \n", + " Abnormally increased size of the liver.\n", + " definition of HP:0002240 (Hepatomegaly)\n", + " \n", + " \n", + " #Enlarged liver\n", + " definition of HP:0002240 (Hepatomegaly)\n", + " \n", + " \n", + " Plantar crease between first and second toes\n", + " definition of HP:0008107 (Plantar crease between first and second toes)\n", + " \n", + " \n", + " The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot located between the first and second toe.\n", + " definition of HP:0008107 (Plantar crease between first and second toes)\n", + " \n", + " \n", + " Abnormality of the abdominal wall\n", + " definition of HP:0004298 (Abnormality of the abdominal wall)\n", + " \n", + " \n", + " The presence of any abnormality affecting the abdominal wall.\n", + " definition of HP:0004298 (Abnormality of the abdominal wall)\n", + " \n", + " \n", + " #Abnormality of external features of the abdomen #Abnormality of the abdominal wall\n", + " definition of HP:0004298 (Abnormality of the abdominal wall)\n", + " \n", + " \n", + " Increased CSF aspartate concentration\n", + " definition of HP:0500217 (Increased CSF aspartate concentration)\n", + " \n", + " \n", + " Abnormally increased levels of aspartic acid in cerebrospinal fluid.\n", + " definition of HP:0500217 (Increased CSF aspartate concentration)\n", + " \n", + " \n", + " #High aspartic acid levels in cerebrospinal fluid #Increased CSF aspartic acid concentration\n", + " definition of HP:0500217 (Increased CSF aspartate concentration)\n", + " \n", + " \n", + " Double tooth\n", + " definition of HP:0011089 (Double tooth)\n", + " \n", + " \n", + " Fusion of two adjacent teeth.\n", + " definition of HP:0011089 (Double tooth)\n", + " \n", + " \n", + " #Conjoined teeth #Double tooth #Teeth, double #Twinning tooth\n", + " definition of HP:0011089 (Double tooth)\n", + " \n", + " \n", + " Death in late adulthood\n", + " definition of HP:0033765 (Death in late adulthood)\n", + " \n", + " \n", + " Death at an age of at least 60 years.\n", + " definition of HP:0033765 (Death in late adulthood)\n", + " \n", + " \n", + " Renal cortical hyperechogenicity\n", + " definition of HP:0033132 (Renal cortical hyperechogenicity)\n", + " \n", + " \n", + " Increased echogenecity of the kidney cortex.\n", + " definition of HP:0033132 (Renal cortical hyperechogenicity)\n", + " \n", + " \n", + " Tendon thickening\n", + " definition of HP:0032523 (Tendon thickening)\n", + " \n", + " \n", + " An abnormal increase in the thickness (diameter) of a tendon.\n", + " definition of HP:0032523 (Tendon thickening)\n", + " \n", + " \n", + " Metopic suture patent to nasal root\n", + " definition of HP:0005495 (Metopic suture patent to nasal root)\n", + " \n", + " \n", + " The frontal suture divides the two halves of the frontal bone in infants and usually fuses by the age of six years. The suture runs from the bregma (the point on the skull at which the coronal suture is intersected perpendicularly by the sagittal suture) to the nasion or nasal root. This term applies if the suture is widely patent from bregma to nasal root.\n", + " definition of HP:0005495 (Metopic suture patent to nasal root)\n", + " \n", + " \n", + " Cutaneous mastocytosis\n", + " definition of HP:0200151 (Cutaneous mastocytosis)\n", + " \n", + " \n", + " Multifocal dense infiltrates of mast cells in cutaneous tissue.\n", + " definition of HP:0200151 (Cutaneous mastocytosis)\n", + " \n", + " \n", + " Triggered by glucose ingestion\n", + " definition of HP:0025210 (Triggered by glucose ingestion)\n", + " \n", + " \n", + " Applies to a sign or symptom that is provoked or brought about by eating or drinking glucose.\n", + " definition of HP:0025210 (Triggered by glucose ingestion)\n", + " \n", + " \n", + " Contracture of the distal interphalangeal joint of the 4th finger\n", + " definition of HP:0009275 (Contracture of the distal interphalangeal joint of the 4th finger)\n", + " \n", + " \n", + " Chronic loss of joint motion of the distal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue.\n", + " definition of HP:0009275 (Contracture of the distal interphalangeal joint of the 4th finger)\n", + " \n", + " \n", + " Cervical ribs\n", + " definition of HP:0000891 (Cervical ribs)\n", + " \n", + " \n", + " Aplasia of the 1st metacarpal\n", + " definition of HP:0010035 (Aplasia of the 1st metacarpal)\n", + " \n", + " \n", + " Absent first metacarpal (long bone) of the hand.\n", + " definition of HP:0010035 (Aplasia of the 1st metacarpal)\n", + " \n", + " \n", + " #Absent 1st long bone of hand #Absent first metacarpal\n", + " definition of HP:0010035 (Aplasia of the 1st metacarpal)\n", + " \n", + " \n", + " Honeycomb palmoplantar hyperkeratosis\n", + " definition of HP:0007465 (Honeycomb palmoplantar hyperkeratosis)\n", + " \n", + " \n", + " Abnormal thickening of the skin on the palms and soles with an honeycomb pattern.\n", + " definition of HP:0007465 (Honeycomb palmoplantar hyperkeratosis)\n", + " \n", + " \n", + " Subglottic stenosis\n", + " definition of HP:0001607 (Subglottic stenosis)\n", + " \n", + " \n", + " Atrial arrhythmia\n", + " definition of HP:0001692 (Atrial arrhythmia)\n", + " \n", + " \n", + " A type of supraventricular tachycardia in which the atria are the principal site of electrophysiologic disturbance.\n", + " definition of HP:0001692 (Atrial arrhythmia)\n", + " \n", + " \n", + " Unicornuate uterus\n", + " definition of HP:0031909 (Unicornuate uterus)\n", + " \n", + " \n", + " A uterus that has a single horn, with a banana-like shape that may or may not have a secondary rudimentary uterine horn.\n", + " definition of HP:0031909 (Unicornuate uterus)\n", + " \n", + " \n", + " Triangular epiphysis of the middle phalanx of the 3rd finger\n", + " definition of HP:0009331 (Triangular epiphysis of the middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " A triangular appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.\n", + " definition of HP:0009331 (Triangular epiphysis of the middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Delta-shaped epiphysis of the middle phalanx of the 3rd finger #Triangular end part of the middle bone of the middle finger\n", + " definition of HP:0009331 (Triangular epiphysis of the middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " Levator palpebrae superioris atrophy\n", + " definition of HP:0012241 (Levator palpebrae superioris atrophy)\n", + " \n", + " \n", + " Atrophy of the levator palpebrae superioris, the extraocular muscle that elevates the superior eyelid.\n", + " definition of HP:0012241 (Levator palpebrae superioris atrophy)\n", + " \n", + " \n", + " Scaphoid abdomen\n", + " definition of HP:0025063 (Scaphoid abdomen)\n", + " \n", + " \n", + " The anterior abdominal wall is sunken and presents a concave rather than a convex contour.\n", + " definition of HP:0025063 (Scaphoid abdomen)\n", + " \n", + " \n", + " Increased HDL3b concentration\n", + " definition of HP:0032430 (Increased HDL3b concentration)\n", + " \n", + " \n", + " An elevation above the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm.\n", + " definition of HP:0032430 (Increased HDL3b concentration)\n", + " \n", + " \n", + " Conical mandibular incisor\n", + " definition of HP:0006339 (Conical mandibular incisor)\n", + " \n", + " \n", + " An abnormal conical morphology of the primary or permanent mandibular incisors.\n", + " definition of HP:0006339 (Conical mandibular incisor)\n", + " \n", + " \n", + " #Cone shaped lower front tooth #Conoid mandibular incisor #Lower front shark tooth\n", + " definition of HP:0006339 (Conical mandibular incisor)\n", + " \n", + " \n", + " 1-minute APGAR score of 2\n", + " definition of HP:0030929 (1-minute APGAR score of 2)\n", + " \n", + " \n", + " Decreased muscle lipoic acid content\n", + " definition of HP:0034928 (Decreased muscle lipoic acid content)\n", + " \n", + " \n", + " Reduced amount of lipoic acid in muscle tissue.\n", + " definition of HP:0034928 (Decreased muscle lipoic acid content)\n", + " \n", + " \n", + " #Muscle biopsy: lipoic acid low\n", + " definition of HP:0034928 (Decreased muscle lipoic acid content)\n", + " \n", + " \n", + " Oligoarthritis\n", + " definition of HP:0040313 (Oligoarthritis)\n", + " \n", + " \n", + " A type of arthritis that affects up to four joints in the first six months of disease.\n", + " definition of HP:0040313 (Oligoarthritis)\n", + " \n", + " \n", + " Ectopic parathyroid\n", + " definition of HP:0011769 (Ectopic parathyroid)\n", + " \n", + " \n", + " An abnormal anatomical location of the parathyroid gland.\n", + " definition of HP:0011769 (Ectopic parathyroid)\n", + " \n", + " \n", + " Long upper eyelashes\n", + " definition of HP:0007840 (Long upper eyelashes)\n", + " \n", + " \n", + " Increased length of the upper eyelashes.\n", + " definition of HP:0007840 (Long upper eyelashes)\n", + " \n", + " \n", + " #Ciliary trichomegaly of upper eyelashes #Increased length of upper eyelashes #Long upper eyelashes\n", + " definition of HP:0007840 (Long upper eyelashes)\n", + " \n", + " \n", + " Stereotypic whole-body movements\n", + " definition of HP:5200019 (Stereotypic whole-body movements)\n", + " \n", + " \n", + " Abnormal movements of the whole body.\n", + " definition of HP:5200019 (Stereotypic whole-body movements)\n", + " \n", + " \n", + " Absence seizure with eyelid myoclonia\n", + " definition of HP:0011149 (Absence seizure with eyelid myoclonia)\n", + " \n", + " \n", + " An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterized by forced upward jerking of the eyelids during an absence seizure.\n", + " definition of HP:0011149 (Absence seizure with eyelid myoclonia)\n", + " \n", + " \n", + " #Absence seizures with eyelid myoclonia\n", + " definition of HP:0011149 (Absence seizure with eyelid myoclonia)\n", + " \n", + " \n", + " Alveolar bone loss around teeth\n", + " definition of HP:0410027 (Alveolar bone loss around teeth)\n", + " \n", + " \n", + " A decrease in the amount of alveolar bone around the root of a tooth.\n", + " definition of HP:0410027 (Alveolar bone loss around teeth)\n", + " \n", + " \n", + " #Bone loss around teeth\n", + " definition of HP:0410027 (Alveolar bone loss around teeth)\n", + " \n", + " \n", + " Increased peripheral blast count\n", + " definition of HP:0032372 (Increased peripheral blast count)\n", + " \n", + " \n", + " An increased count in the peripheral blood of cells that are precursors to mature circulating blood cells such as neutrophiles, monocytes, lymphocutes, and erythrocytes. Blasts are not usually found in significant numbers in the peripheral blood circulation, but can be observed in hematopoietic neoplasms such as leukemia, severe infections, and as a result of certain medications.\n", + " definition of HP:0032372 (Increased peripheral blast count)\n", + " \n", + " \n", + " #Elevated blast count #Elevated circulating blasts #Increased peripheral myeloblast count\n", + " definition of HP:0032372 (Increased peripheral blast count)\n", + " \n", + " \n", + " Acrobrachycephaly\n", + " definition of HP:0004487 (Acrobrachycephaly)\n", + " \n", + " \n", + " An abnormality of head shape characterized by the presence of a short, wide head as well as a pointy or conical form of the top of the head owing to premature closure of the coronal and lambdoid sutures.\n", + " definition of HP:0004487 (Acrobrachycephaly)\n", + " \n", + " \n", + " Spinal stenosis with reduced interpedicular distance\n", + " definition of HP:0005733 (Spinal stenosis with reduced interpedicular distance)\n", + " \n", + " \n", + " An abnormal narrowing of the spinal canal related to a reduction in the interpedicular distance (i.e., the distance measured between the pedicles on frontal [coronal] imaging).\n", + " definition of HP:0005733 (Spinal stenosis with reduced interpedicular distance)\n", + " \n", + " \n", + " #Spinal stenosis due to short pedicles\n", + " definition of HP:0005733 (Spinal stenosis with reduced interpedicular distance)\n", + " \n", + " \n", + " Anti-SUMO-activating enzyme antibody positivity\n", + " definition of HP:0034139 (Anti-SUMO-activating enzyme antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE.\n", + " definition of HP:0034139 (Anti-SUMO-activating enzyme antibody positivity)\n", + " \n", + " \n", + " #Anti-SAE antibody positivity #Anti-small ubiquitin-like modifier-1 activating enzyme antibody positivity\n", + " definition of HP:0034139 (Anti-SUMO-activating enzyme antibody positivity)\n", + " \n", + " \n", + " Urinary tract neoplasm\n", + " definition of HP:0010786 (Urinary tract neoplasm)\n", + " \n", + " \n", + " The presence of a neoplasm of the urinary system.\n", + " definition of HP:0010786 (Urinary tract neoplasm)\n", + " \n", + " \n", + " Decreased circulating ficolin 3 concentration\n", + " definition of HP:6000189 (Decreased circulating ficolin 3 concentration)\n", + " \n", + " \n", + " Concentration of ficolin 3 in the blood circulation below the lower limit of normal.\n", + " definition of HP:6000189 (Decreased circulating ficolin 3 concentration)\n", + " \n", + " \n", + " Non-epileptic seizure\n", + " definition of HP:0033052 (Non-epileptic seizure)\n", + " \n", + " \n", + " Psychogenic non-epileptic seizures (PNES) are not abnormal perceptions or abnormal beliefs/judgments, nor are they epileptic attacks. They are behaviors that simulate epileptic attacks, not fully consciously.\n", + " definition of HP:0033052 (Non-epileptic seizure)\n", + " \n", + " \n", + " #Functional seizure #Psychogenic non-epileptic seizure #Psychosomatic seizure\n", + " definition of HP:0033052 (Non-epileptic seizure)\n", + " \n", + " \n", + " EEG with periodic abnormalities\n", + " definition of HP:0010857 (EEG with periodic abnormalities)\n", + " \n", + " \n", + " Periodically recurring abnormalities in the EEG.\n", + " definition of HP:0010857 (EEG with periodic abnormalities)\n", + " \n", + " \n", + " #EEG: periodic abnormalities\n", + " definition of HP:0010857 (EEG with periodic abnormalities)\n", + " \n", + " \n", + " Supracondylar elbow fracture\n", + " definition of HP:0430036 (Supracondylar elbow fracture)\n", + " \n", + " \n", + " A type of elbow fracture that involves the distal humerus just above the elbow.\n", + " definition of HP:0430036 (Supracondylar elbow fracture)\n", + " \n", + " \n", + " Abnormal cord blood measurement\n", + " definition of HP:0410210 (Abnormal cord blood measurement)\n", + " \n", + " \n", + " An abnormality in any umbilical cord measurement performed after birth, such as the blood gas level.\n", + " definition of HP:0410210 (Abnormal cord blood measurement)\n", + " \n", + " \n", + " Decreased circulating vitamin E concentration\n", + " definition of HP:0100513 (Decreased circulating vitamin E concentration)\n", + " \n", + " \n", + " A reduced concentration of vitamin E in the blood circulation. Vitamin E is a lipophilic vitamin that is also known as alpha-tocopherol.\n", + " definition of HP:0100513 (Decreased circulating vitamin E concentration)\n", + " \n", + " \n", + " #Alpha-tocopherol deficiency #Low levels of vitamin E #Vitamin E deficiency\n", + " definition of HP:0100513 (Decreased circulating vitamin E concentration)\n", + " \n", + " \n", + " Frontomalar faciosynostosis\n", + " definition of HP:0430004 (Frontomalar faciosynostosis)\n", + " \n", + " \n", + " Neuronal intranuclear inclusion bodies\n", + " definition of HP:6000155 (Neuronal intranuclear inclusion bodies)\n", + " \n", + " \n", + " The presence of intracellular inclusion bodies (aggregates of stainable substances, usually proteins) in neurons.\n", + " definition of HP:6000155 (Neuronal intranuclear inclusion bodies)\n", + " \n", + " \n", + " Lytic defects of the forearm bones\n", + " definition of HP:0003963 (Lytic defects of the forearm bones)\n", + " \n", + " \n", + " Serpentine skin location\n", + " definition of HP:6000530 (Serpentine skin location)\n", + " \n", + " \n", + " Refers to a skin lseion that has a snake-like (serpentine) shape.\n", + " definition of HP:6000530 (Serpentine skin location)\n", + " \n", + " \n", + " Chronic (near) absent circulating IgG2\n", + " definition of HP:0041065 (Chronic (near) absent circulating IgG2)\n", + " \n", + " \n", + " A lasting absence of immunoglobulin G2 (IgG2) in the blood, whereby at most trace quantities of IgG2 can be measured.\n", + " definition of HP:0041065 (Chronic (near) absent circulating IgG2)\n", + " \n", + " \n", + " #Chronic (near) absent IgG2 in blood\n", + " definition of HP:0041065 (Chronic (near) absent circulating IgG2)\n", + " \n", + " \n", + " Gonadal dysgenesis\n", + " definition of HP:0000133 (Gonadal dysgenesis)\n", + " \n", + " \n", + " #Mixed gonadal dysgenesis #Pure gonadal dysgenesis\n", + " definition of HP:0000133 (Gonadal dysgenesis)\n", + " \n", + " \n", + " Abnormality of the epiphysis of the middle phalanx of the 5th toe\n", + " definition of HP:0100098 (Abnormality of the epiphysis of the middle phalanx of the 5th toe)\n", + " \n", + " \n", + " #Abnormality of the end part of the middle bone of the little toe #Abnormality of the end part of the middle bone of the pinkie toe #Abnormality of the end part of the middle bone of the pinky toe\n", + " definition of HP:0100098 (Abnormality of the epiphysis of the middle phalanx of the 5th toe)\n", + " \n", + " \n", + " Prolonged prothrombin time\n", + " definition of HP:0008151 (Prolonged prothrombin time)\n", + " \n", + " \n", + " Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT.\n", + " definition of HP:0008151 (Prolonged prothrombin time)\n", + " \n", + " \n", + " #Increased INR #Increased international normalised ratio #increased international normalised ratio #Increased international normalized ratio #Low factor II activity #Prolonged PT #Reduced factor II activity #Reduced prothrombin activity\n", + " definition of HP:0008151 (Prolonged prothrombin time)\n", + " \n", + " \n", + " Obligate\n", + " definition of HP:0040280 (Obligate)\n", + " \n", + " \n", + " Always present, i.e. in 100% of the cases.\n", + " definition of HP:0040280 (Obligate)\n", + " \n", + " \n", + " #Obligate (100%)\n", + " definition of HP:0040280 (Obligate)\n", + " \n", + " \n", + " Abnormal dental pulp morphology\n", + " definition of HP:0006479 (Abnormal dental pulp morphology)\n", + " \n", + " \n", + " An abnormality of the dental pulp.\n", + " definition of HP:0006479 (Abnormal dental pulp morphology)\n", + " \n", + " \n", + " #Abnormality of the dental pulp #Abnormality of tooth pulp\n", + " definition of HP:0006479 (Abnormal dental pulp morphology)\n", + " \n", + " \n", + " Forearm pronation contracture\n", + " definition of HP:0034395 (Forearm pronation contracture)\n", + " \n", + " \n", + " A contracture that limits the ability of the forearm to stabilize the hand in supiation (supination refers to a rotation of the forearm that causes the palm and forearm to face upwards), meaning that the palm is fixed in a downward orientation. Restriction of supination/pronation can occur at the elbow (radial-humeral joint), at the wrist (radial-ulnar joint), and anywhere in between.\n", + " definition of HP:0034395 (Forearm pronation contracture)\n", + " \n", + " \n", + " #Pronation contracture of the forearm\n", + " definition of HP:0034395 (Forearm pronation contracture)\n", + " \n", + " \n", + " Duplication of pancreatic duct\n", + " definition of HP:0030993 (Duplication of pancreatic duct)\n", + " \n", + " \n", + " A congenital anomaly characterized by the presence of two separate pancreatic ducts.\n", + " definition of HP:0030993 (Duplication of pancreatic duct)\n", + " \n", + " \n", + " #Duplicated pancreatic duct\n", + " definition of HP:0030993 (Duplication of pancreatic duct)\n", + " \n", + " \n", + " Wide nasal base\n", + " definition of HP:0012810 (Wide nasal base)\n", + " \n", + " \n", + " Increased distance between the attachments of the alae nasi to the face.\n", + " definition of HP:0012810 (Wide nasal base)\n", + " \n", + " \n", + " #Broad base of nose #Broad nasal base #Increased width of base of nose #Increased width of nasal base #Wide base of nose #Wide nasal base\n", + " definition of HP:0012810 (Wide nasal base)\n", + " \n", + " \n", + " Lymph-node lymphocyte monocytoid morphology\n", + " definition of HP:0020274 (Lymph-node lymphocyte monocytoid morphology)\n", + " \n", + " \n", + " Lymphocytes that show morphologic features resembling monocytes, such as increased cytoplasm and slightly enlarged nuclei that are more irregular than most lymph node lymphocytes.\n", + " definition of HP:0020274 (Lymph-node lymphocyte monocytoid morphology)\n", + " \n", + " \n", + " Diminished glomerular basement membrane collagen IV alpha 3 chain staining\n", + " definition of HP:6001027 (Diminished glomerular basement membrane collagen IV alpha 3 chain staining)\n", + " \n", + " \n", + " Abnormal reduction in the amount of the alpha 3 chain of collagen IV in the basement membrane of the glomeruli of the kidney.\n", + " definition of HP:6001027 (Diminished glomerular basement membrane collagen IV alpha 3 chain staining)\n", + " \n", + " \n", + " Abnormal circulating follicle-stimulating hormone concentration\n", + " definition of HP:0030346 (Abnormal circulating follicle-stimulating hormone concentration)\n", + " \n", + " \n", + " An anomaly of the circulating level of follicle-stimulating hormone (FSH).\n", + " definition of HP:0030346 (Abnormal circulating follicle-stimulating hormone concentration)\n", + " \n", + " \n", + " #Abnormal circulating follicle-stimulating hormone level\n", + " definition of HP:0030346 (Abnormal circulating follicle-stimulating hormone concentration)\n", + " \n", + " \n", + " Elevated urinary pipecolic acid level\n", + " definition of HP:6000269 (Elevated urinary pipecolic acid level)\n", + " \n", + " \n", + " The amount of pipecolic acid in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000269 (Elevated urinary pipecolic acid level)\n", + " \n", + " \n", + " Tonic seizure\n", + " definition of HP:0032792 (Tonic seizure)\n", + " \n", + " \n", + " A tonic seizure is a type of motor seizure characterized by unilateral or bilateral limb stiffening or elevation, often with neck stiffening.\n", + " definition of HP:0032792 (Tonic seizure)\n", + " \n", + " \n", + " Pleural lymphangiectasia\n", + " definition of HP:0006531 (Pleural lymphangiectasia)\n", + " \n", + " \n", + " Poroma\n", + " definition of HP:0031405 (Poroma)\n", + " \n", + " \n", + " A benign, well circumscribed sweat gland neoplasm with eccrine or apocrine differentiation. It usually presents as a solitary, dome-shaped papule, nodule, or plaque on acral sites. It is characterized by a proliferation of uniform basaloid cells in the dermis and it is associated with the presence of focal ductal and cystic structures [NCIT:C27273].\n", + " definition of HP:0031405 (Poroma)\n", + " \n", + " \n", + " Pulmonary imaging sign\n", + " definition of HP:0033775 (Pulmonary imaging sign)\n", + " \n", + " \n", + " An abnormal pulmonary imaging finding defined by eponym or reference to signs, symbols, or naturalistic images.\n", + " definition of HP:0033775 (Pulmonary imaging sign)\n", + " \n", + " \n", + " Unusual viral infection\n", + " definition of HP:0034317 (Unusual viral infection)\n", + " \n", + " \n", + " Breast intraductal papilloma\n", + " definition of HP:6000102 (Breast intraductal papilloma)\n", + " \n", + " \n", + " Intraductal papilloma is a benign tumor found within breast ducts. The abnormal proliferation of ductal epithelial cells causes growth. A solitary intraductal papilloma is usually found centrally posterior to the nipple affecting the central duct. Multiple intraductal papillomas are located peripherally, found in any breast quadrant affecting the peripheral ducts.\n", + " definition of HP:6000102 (Breast intraductal papilloma)\n", + " \n", + " \n", + " Hypoechoic breast mass\n", + " definition of HP:6000630 (Hypoechoic breast mass)\n", + " \n", + " \n", + " A breast mass visualized by sonography that displays a lower than normal echo signal (and this that appears dark gray in the typical ultrasound image).\n", + " definition of HP:6000630 (Hypoechoic breast mass)\n", + " \n", + " \n", + " #Hypoechoic breast nodule\n", + " definition of HP:6000630 (Hypoechoic breast mass)\n", + " \n", + " \n", + " Increased circulating A-type natriuretic peptide concentration\n", + " definition of HP:0020183 (Increased circulating A-type natriuretic peptide concentration)\n", + " \n", + " \n", + " A measurable elevation in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure.\n", + " definition of HP:0020183 (Increased circulating A-type natriuretic peptide concentration)\n", + " \n", + " \n", + " #Increased circulating A-type natriuretic peptide level\n", + " definition of HP:0020183 (Increased circulating A-type natriuretic peptide concentration)\n", + " \n", + " \n", + " Abnormal basal ganglia morphology\n", + " definition of HP:0002134 (Abnormal basal ganglia morphology)\n", + " \n", + " \n", + " Abnormality of the basal ganglia.\n", + " definition of HP:0002134 (Abnormal basal ganglia morphology)\n", + " \n", + " \n", + " #Abnormality of the basal ganglia #Anomaly of the basal ganglia #Basal ganglia disease\n", + " definition of HP:0002134 (Abnormal basal ganglia morphology)\n", + " \n", + " \n", + " Dysorthography\n", + " definition of HP:6000915 (Dysorthography)\n", + " \n", + " \n", + " A specific disorder of spelling. A score on a standardized spelling test is at least two standard errors of prediction below the level expected on the basis of the child's chronological age and general intelligence in the context of scores on reading accuracy and comprehension and on arithmetic that are within the normal range (within two standard deviations from the mean).\n", + " definition of HP:6000915 (Dysorthography)\n", + " \n", + " \n", + " Irregular epiphysis of the proximal phalanx of the 2nd toe\n", + " definition of HP:0100127 (Irregular epiphysis of the proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Irregular end part of the innermost bone of the 2nd toe\n", + " definition of HP:0100127 (Irregular epiphysis of the proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Abnormality of the epiphysis of the distal phalanx of the 5th finger\n", + " definition of HP:0009198 (Abnormality of the epiphysis of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " Abnormality of the epiphysis of the distal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx.\n", + " definition of HP:0009198 (Abnormality of the epiphysis of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " #Abnormality of end part of the outermost bone of the little finger #Abnormality of end part of the outermost bone of the pinkie finger #Abnormality of end part of the outermost bone of the pinky finger #Abnormality of the epiphysis of the terminal phalanx of the little finger\n", + " definition of HP:0009198 (Abnormality of the epiphysis of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " Hernia of the abdominal wall\n", + " definition of HP:0004299 (Hernia of the abdominal wall)\n", + " \n", + " \n", + " The presence of a hernia in the abdominal wall.\n", + " definition of HP:0004299 (Hernia of the abdominal wall)\n", + " \n", + " \n", + " #Herniated abdominal wall\n", + " definition of HP:0004299 (Hernia of the abdominal wall)\n", + " \n", + " \n", + " Abnormal skeletal morphology\n", + " definition of HP:0011842 (Abnormal skeletal morphology)\n", + " \n", + " \n", + " An abnormality of the form, structure, or size of the skeletal system.\n", + " definition of HP:0011842 (Abnormal skeletal morphology)\n", + " \n", + " \n", + " #Abnormality of skeletal morphology #Abnormally shaped skeletal\n", + " definition of HP:0011842 (Abnormal skeletal morphology)\n", + " \n", + " \n", + " Abnormal mitral valve physiology\n", + " definition of HP:0031481 (Abnormal mitral valve physiology)\n", + " \n", + " \n", + " Any functional anomaly of the mitral valve.\n", + " definition of HP:0031481 (Abnormal mitral valve physiology)\n", + " \n", + " \n", + " Abnormal sweat gland morphology\n", + " definition of HP:0000971 (Abnormal sweat gland morphology)\n", + " \n", + " \n", + " Any structural abnormality of the sweat gland.\n", + " definition of HP:0000971 (Abnormal sweat gland morphology)\n", + " \n", + " \n", + " #Abnormality of the sweat gland\n", + " definition of HP:0000971 (Abnormal sweat gland morphology)\n", + " \n", + " \n", + " Synesthesia\n", + " definition of HP:6000024 (Synesthesia)\n", + " \n", + " \n", + " A phenomenon whereby stimulation of one sensory or cognitive pathway leads to automatic, involuntary experiences in a second sensory or cognitive pathway. For instance, people with synaesthesia may experience unusual colors, tastes, and other sensations when engaged in everyday activities like reading or listening to music.\n", + " definition of HP:6000024 (Synesthesia)\n", + " \n", + " \n", + " EEG with central sharp waves\n", + " definition of HP:0011293 (EEG with central sharp waves)\n", + " \n", + " \n", + " EEG with sharp waves in the central region, i.e., sharp transient waves of a duration between 80 and 200 msec.\n", + " definition of HP:0011293 (EEG with central sharp waves)\n", + " \n", + " \n", + " Unilateral cleft palate\n", + " definition of HP:0100334 (Unilateral cleft palate)\n", + " \n", + " \n", + " #One sided cleft palate #Unilateral palatoschisis\n", + " definition of HP:0100334 (Unilateral cleft palate)\n", + " \n", + " \n", + " Ascending aortic dissection\n", + " definition of HP:0004933 (Ascending aortic dissection)\n", + " \n", + " \n", + " A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space.\n", + " definition of HP:0004933 (Ascending aortic dissection)\n", + " \n", + " \n", + " #Type A aortic dissection\n", + " definition of HP:0004933 (Ascending aortic dissection)\n", + " \n", + " \n", + " Proteinuria\n", + " definition of HP:0000093 (Proteinuria)\n", + " \n", + " \n", + " Increased levels of protein in the urine.\n", + " definition of HP:0000093 (Proteinuria)\n", + " \n", + " \n", + " #High urine protein levels #Protein in urine\n", + " definition of HP:0000093 (Proteinuria)\n", + " \n", + " \n", + " Contracture of the distal interphalangeal joint of the 2nd finger\n", + " definition of HP:0009538 (Contracture of the distal interphalangeal joint of the 2nd finger)\n", + " \n", + " \n", + " Chronic loss of joint motion of the distal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue.\n", + " definition of HP:0009538 (Contracture of the distal interphalangeal joint of the 2nd finger)\n", + " \n", + " \n", + " Patchy changes of bone mineral density\n", + " definition of HP:0010658 (Patchy changes of bone mineral density)\n", + " \n", + " \n", + " Patchy (irregular) changes in bone mineral density. These changes can either be patchy reduction or increase of mineral density as seen on x-rays. Depending on the pathomechanism and the underlying disease, these changes can either appear solely as reduction or increase or as a combination of both (patches of bone showing an increased density while others are affected by reduction of mineral density).\n", + " definition of HP:0010658 (Patchy changes of bone mineral density)\n", + " \n", + " \n", + " Intermittent lactic acidemia\n", + " definition of HP:0004913 (Intermittent lactic acidemia)\n", + " \n", + " \n", + " An intermittent (discontinuous) form of lactic acidemia.\n", + " definition of HP:0004913 (Intermittent lactic acidemia)\n", + " \n", + " \n", + " Parathyroid hypoplasia\n", + " definition of HP:0000860 (Parathyroid hypoplasia)\n", + " \n", + " \n", + " Developmental hypoplasia of the parathyroid gland.\n", + " definition of HP:0000860 (Parathyroid hypoplasia)\n", + " \n", + " \n", + " #Small parathyroid glands #Underdeveloped parathyroid glands\n", + " definition of HP:0000860 (Parathyroid hypoplasia)\n", + " \n", + " \n", + " Cone-shaped epiphysis of the distal phalanx of the 3rd toe\n", + " definition of HP:0100137 (Cone-shaped epiphysis of the distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Cone-shaped end part of the outermost bone of the 3rd toe\n", + " definition of HP:0100137 (Cone-shaped epiphysis of the distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Enlarged epididymis\n", + " definition of HP:0034479 (Enlarged epididymis)\n", + " \n", + " \n", + " Abnormal increase in the size of the epididymis.\n", + " definition of HP:0034479 (Enlarged epididymis)\n", + " \n", + " \n", + " #Epididymis enlarged\n", + " definition of HP:0034479 (Enlarged epididymis)\n", + " \n", + " \n", + " Basalioma of the outer ear\n", + " definition of HP:0040098 (Basalioma of the outer ear)\n", + " \n", + " \n", + " Increased caudate lactate level\n", + " definition of HP:0012644 (Increased caudate lactate level)\n", + " \n", + " \n", + " An elevated concentration of lactate in the caudate nucleus. This finding can be elicited by magnetic resonance spectroscopy imaging.\n", + " definition of HP:0012644 (Increased caudate lactate level)\n", + " \n", + " \n", + " Aplasia of the femoral head\n", + " definition of HP:0100862 (Aplasia of the femoral head)\n", + " \n", + " \n", + " #Absent femoral head\n", + " definition of HP:0100862 (Aplasia of the femoral head)\n", + " \n", + " \n", + " Gallbladder dyskinesia\n", + " definition of HP:0012442 (Gallbladder dyskinesia)\n", + " \n", + " \n", + " Reduced motility of the gallbladder with reduced emptying fraction.\n", + " definition of HP:0012442 (Gallbladder dyskinesia)\n", + " \n", + " \n", + " Abnormality of chromosome segregation\n", + " definition of HP:0002916 (Abnormality of chromosome segregation)\n", + " \n", + " \n", + " An abnormality of chromosome segregation.\n", + " definition of HP:0002916 (Abnormality of chromosome segregation)\n", + " \n", + " \n", + " Breast hypertrophy\n", + " definition of HP:0010313 (Breast hypertrophy)\n", + " \n", + " \n", + " The presence of hypertrophy of the breast.\n", + " definition of HP:0010313 (Breast hypertrophy)\n", + " \n", + " \n", + " #Breast enlargement #Breasts enlarged #Gigantomastia #Hypertrophy of the breasts #Large breast #Macromastia\n", + " definition of HP:0010313 (Breast hypertrophy)\n", + " \n", + " \n", + " Seminal vesicle hypoplasia\n", + " definition of HP:6000338 (Seminal vesicle hypoplasia)\n", + " \n", + " \n", + " A congenital anomaly characterized by underdevelopment of one or both seminal vesicles, which are the two small glands that store and produce the majority of the fluid that makes up semen.\n", + " definition of HP:6000338 (Seminal vesicle hypoplasia)\n", + " \n", + " \n", + " Abnormality of the epiphysis of the middle phalanx of the 2nd toe\n", + " definition of HP:0100089 (Abnormality of the epiphysis of the middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Abnormality of the end part of the middle bone of the 2nd toe\n", + " definition of HP:0100089 (Abnormality of the epiphysis of the middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " Elevated circulating 3-hydroxybutyric acid concentration\n", + " definition of HP:0033419 (Elevated circulating 3-hydroxybutyric acid concentration)\n", + " \n", + " \n", + " Elevation of the 3-hydroxybutyric acid concentration in the blood above the normal range.\n", + " definition of HP:0033419 (Elevated circulating 3-hydroxybutyric acid concentration)\n", + " \n", + " \n", + " Avulsion fractured tibia\n", + " definition of HP:0041089 (Avulsion fractured tibia)\n", + " \n", + " \n", + " A fractured in which a fragment of the tibia tears away from the main mass of bone as a result of physical trauma.\n", + " definition of HP:0041089 (Avulsion fractured tibia)\n", + " \n", + " \n", + " Absent nipple\n", + " definition of HP:0002561 (Absent nipple)\n", + " \n", + " \n", + " Congenital failure to develop, and absence of, the nipple.\n", + " definition of HP:0002561 (Absent nipple)\n", + " \n", + " \n", + " #Absent nipple #Absent nipples #Athelia\n", + " definition of HP:0002561 (Absent nipple)\n", + " \n", + " \n", + " Recurrent subcortical infarcts\n", + " definition of HP:0007236 (Recurrent subcortical infarcts)\n", + " \n", + " \n", + " Wide cavum septum pellucidum\n", + " definition of HP:0034964 (Wide cavum septum pellucidum)\n", + " \n", + " \n", + " Width of the cavum septum pellucidum above the upper limit of normal, which is defined as a separation of greater than one cm of the leaves of the cavum septum pellucidum.\n", + " definition of HP:0034964 (Wide cavum septum pellucidum)\n", + " \n", + " \n", + " Tactile hypersensitivity\n", + " definition of HP:5200061 (Tactile hypersensitivity)\n", + " \n", + " \n", + " A decreased tolerance to physical touch.\n", + " definition of HP:5200061 (Tactile hypersensitivity)\n", + " \n", + " \n", + " Severe sensorineural hearing impairment\n", + " definition of HP:0008625 (Severe sensorineural hearing impairment)\n", + " \n", + " \n", + " A severe form of sensorineural hearing impairment.\n", + " definition of HP:0008625 (Severe sensorineural hearing impairment)\n", + " \n", + " \n", + " #Severe sensorineural deafness #Severe sensorineural hearing loss\n", + " definition of HP:0008625 (Severe sensorineural hearing impairment)\n", + " \n", + " \n", + " Bladder stones\n", + " definition of HP:0010474 (Bladder stones)\n", + " \n", + " \n", + " Buildups of minerals that form in the urinary bladder.\n", + " definition of HP:0010474 (Bladder stones)\n", + " \n", + " \n", + " Congenital foot contraction deformities\n", + " definition of HP:0005853 (Congenital foot contraction deformities)\n", + " \n", + " \n", + " Stridor\n", + " definition of HP:0010307 (Stridor)\n", + " \n", + " \n", + " Stridor is a high pitched sound resulting from turbulent air flow in the upper airway.\n", + " definition of HP:0010307 (Stridor)\n", + " \n", + " \n", + " Preauricular hair displacement\n", + " definition of HP:0009554 (Preauricular hair displacement)\n", + " \n", + " \n", + " An tongue-like extension of hair towards the cheeks, in which hair growth extends in front of the ear to the lateral cheekbones.\n", + " definition of HP:0009554 (Preauricular hair displacement)\n", + " \n", + " \n", + " #Hair displacement, preauricular, towards lateral cheekbone #Hair growing down to cheek #Projection of scalp hair onto lateral cheek\n", + " definition of HP:0009554 (Preauricular hair displacement)\n", + " \n", + " \n", + " Placenta previa\n", + " definition of HP:0430070 (Placenta previa)\n", + " \n", + " \n", + " Implantation of the placenta over or near the internal os of the cervix.\n", + " definition of HP:0430070 (Placenta previa)\n", + " \n", + " \n", + " #Placenta praevia\n", + " definition of HP:0430070 (Placenta previa)\n", + " \n", + " \n", + " Compensatory head tilt to the right shoulder\n", + " definition of HP:0031709 (Compensatory head tilt to the right shoulder)\n", + " \n", + " \n", + " A tendency to tilt the head towards the right shoulder to compensate for a limitation of eye movement.\n", + " definition of HP:0031709 (Compensatory head tilt to the right shoulder)\n", + " \n", + " \n", + " Reduced response to gonadotropin-releasing hormone stimulation test\n", + " definition of HP:0020159 (Reduced response to gonadotropin-releasing hormone stimulation test)\n", + " \n", + " \n", + " Failure of the gonadotropin-releasing hormone (GnRH) stimulation test to induce an appropriate increased in luteinizing hormone (LH), follicle-stimulating hormone (FSH) levels.\n", + " definition of HP:0020159 (Reduced response to gonadotropin-releasing hormone stimulation test)\n", + " \n", + " \n", + " #Reduce response to GnRH stimulation test\n", + " definition of HP:0020159 (Reduced response to gonadotropin-releasing hormone stimulation test)\n", + " \n", + " \n", + " Central heterochromia\n", + " definition of HP:0007818 (Central heterochromia)\n", + " \n", + " \n", + " The presence of distinct colors in the central (pupillary) zone of the iris than in the mid-peripheral (ciliary) zone.\n", + " definition of HP:0007818 (Central heterochromia)\n", + " \n", + " \n", + " #Ring iris heterochromia\n", + " definition of HP:0007818 (Central heterochromia)\n", + " \n", + " \n", + " Violet lip discoloration\n", + " definition of HP:0025119 (Violet lip discoloration)\n", + " \n", + " \n", + " An alteration of the color of the lip to take on a violet color. This term does not include cyanosis.\n", + " definition of HP:0025119 (Violet lip discoloration)\n", + " \n", + " \n", + " Hypotelorism\n", + " definition of HP:0000601 (Hypotelorism)\n", + " \n", + " \n", + " Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).\n", + " definition of HP:0000601 (Hypotelorism)\n", + " \n", + " \n", + " #Abnormally close eyes #Closely spaced eyes #Decreased distance between eye sockets #Decreased distance between eyes #Decreased interpupillary distance #Decreased orbital separation #Ocular hypotelorism\n", + " definition of HP:0000601 (Hypotelorism)\n", + " \n", + " \n", + " Dermal flame figures\n", + " definition of HP:6000090 (Dermal flame figures)\n", + " \n", + " \n", + " Flame-figures are composed of a central part consisting of collagen fibers and eosinophilic granules, surrounded by a histiocytic and eosinophilic infiltrate. Subsequently, eosinophils tend to disappear and are replaced by phagocytic granulomas, consisting of histiocytes and sometimes giant cells, around the flame figures.\n", + " definition of HP:6000090 (Dermal flame figures)\n", + " \n", + " \n", + " Recurrent mandibular subluxations\n", + " definition of HP:0005332 (Recurrent mandibular subluxations)\n", + " \n", + " \n", + " Recurrent partial dislocations of the mandible.\n", + " definition of HP:0005332 (Recurrent mandibular subluxations)\n", + " \n", + " \n", + " Positive urine benzodiazepines test\n", + " definition of HP:0500111 (Positive urine benzodiazepines test)\n", + " \n", + " \n", + " Detection of benzodiazepine metabolites, primarily nordiazepam, oxazepam, and temazepam, in urine.\n", + " definition of HP:0500111 (Positive urine benzodiazepines test)\n", + " \n", + " \n", + " Spinal muscular atrophy\n", + " definition of HP:0007269 (Spinal muscular atrophy)\n", + " \n", + " \n", + " Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem.\n", + " definition of HP:0007269 (Spinal muscular atrophy)\n", + " \n", + " \n", + " #Spinal muscle degeneration #Spinal muscle wasting\n", + " definition of HP:0007269 (Spinal muscular atrophy)\n", + " \n", + " \n", + " Decreased erythrocyte sedimentation rate\n", + " definition of HP:0025022 (Decreased erythrocyte sedimentation rate)\n", + " \n", + " \n", + " A reduced erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling.\n", + " definition of HP:0025022 (Decreased erythrocyte sedimentation rate)\n", + " \n", + " \n", + " #Decreased ESR #Low ESR\n", + " definition of HP:0025022 (Decreased erythrocyte sedimentation rate)\n", + " \n", + " \n", + " Limited elbow extension\n", + " definition of HP:0001377 (Limited elbow extension)\n", + " \n", + " \n", + " Limited ability to straighten the arm at the elbow joint.\n", + " definition of HP:0001377 (Limited elbow extension)\n", + " \n", + " \n", + " #Decreased elbow extension #Elbow limited extension #Limitation of elbow extension #Limited elbow extension #Limited extension at elbows #Limited forearm extension #Restricted elbow extension\n", + " definition of HP:0001377 (Limited elbow extension)\n", + " \n", + " \n", + " Addictive non-substance behaviors\n", + " definition of HP:5200332 (Addictive non-substance behaviors)\n", + " \n", + " \n", + " Uncontrolled use or problematic behaviors of dependency without the use of drugs or substances can be detrimental.\n", + " definition of HP:5200332 (Addictive non-substance behaviors)\n", + " \n", + " \n", + " #Addiction to a behavior #Addiction to a behaviour #Addiction to an activity #Addictive activity\n", + " definition of HP:5200332 (Addictive non-substance behaviors)\n", + " \n", + " \n", + " Abnormal circulating thyroid hormone concentration\n", + " definition of HP:0031508 (Abnormal circulating thyroid hormone concentration)\n", + " \n", + " \n", + " Any deviation from the normal range of the hormones produced by the thyroid gland.\n", + " definition of HP:0031508 (Abnormal circulating thyroid hormone concentration)\n", + " \n", + " \n", + " #Abnormal thyroid hormone level\n", + " definition of HP:0031508 (Abnormal circulating thyroid hormone concentration)\n", + " \n", + " \n", + " Bronchodysplasia\n", + " definition of HP:0006533 (Bronchodysplasia)\n", + " \n", + " \n", + " Hemiatrophy of upper limb\n", + " definition of HP:0100558 (Hemiatrophy of upper limb)\n", + " \n", + " \n", + " Unilateral atrophy (reduction in size) of an arm.\n", + " definition of HP:0100558 (Hemiatrophy of upper limb)\n", + " \n", + " \n", + " #Asymmetric upper limb shortening #Hemihypotrophy of upper limb\n", + " definition of HP:0100558 (Hemiatrophy of upper limb)\n", + " \n", + " \n", + " Abnormal arterial physiology\n", + " definition of HP:0025323 (Abnormal arterial physiology)\n", + " \n", + " \n", + " An anomaly of arterial function.\n", + " definition of HP:0025323 (Abnormal arterial physiology)\n", + " \n", + " \n", + " Reduced vital capacity\n", + " definition of HP:0002792 (Reduced vital capacity)\n", + " \n", + " \n", + " An abnormal reduction on the vital capacity, which is defined as the total lung capacity (volume of air in the lungs at maximal inflation) less the residual volume (i.e., volume of air in the lungs following maximal exhalation) of the lung.\n", + " definition of HP:0002792 (Reduced vital capacity)\n", + " \n", + " \n", + " #Decreased vital capacity\n", + " definition of HP:0002792 (Reduced vital capacity)\n", + " \n", + " \n", + " Inappropriate normal or low erythropoietin\n", + " definition of HP:6001016 (Inappropriate normal or low erythropoietin)\n", + " \n", + " \n", + " Erythropoietin is produced and released into the blood by the kidneys in response to hypoxemia, and would normally be expected to increase with decreasing hemoglobin levels. This term applies if the increase fails to occur, as may be seen in conditions including chronic kidney disease.\n", + " definition of HP:6001016 (Inappropriate normal or low erythropoietin)\n", + " \n", + " \n", + " Arthropathy\n", + " definition of HP:0003040 (Arthropathy)\n", + " \n", + " \n", + " #Disease of the joints\n", + " definition of HP:0003040 (Arthropathy)\n", + " \n", + " \n", + " Duplication of the proximal phalanx of the 4th finger\n", + " definition of HP:0009977 (Duplication of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " Partial or complete duplication of the fourth proximal phalanx of hand.\n", + " definition of HP:0009977 (Duplication of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " #Duplication of the proximal bone of the ring finger #Partial/complete duplication of the proximal phalanx of the 4th finger\n", + " definition of HP:0009977 (Duplication of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " Superior pubic ramus hypoplasia\n", + " definition of HP:0034708 (Superior pubic ramus hypoplasia)\n", + " \n", + " \n", + " Underdevelopment of the upper branch of the pubis bone (inferior pubic ramus).\n", + " definition of HP:0034708 (Superior pubic ramus hypoplasia)\n", + " \n", + " \n", + " Increased hematocrit\n", + " definition of HP:0001899 (Increased hematocrit)\n", + " \n", + " \n", + " An elevation above the normal ratio of the volume of red blood cells to the total volume of blood.\n", + " definition of HP:0001899 (Increased hematocrit)\n", + " \n", + " \n", + " #Increased Hct\n", + " definition of HP:0001899 (Increased hematocrit)\n", + " \n", + " \n", + " Vasculitis by anatomical site\n", + " definition of HP:0034784 (Vasculitis by anatomical site)\n", + " \n", + " \n", + " Vasculitis categorized according to the anatomical site where the finding is localized.\n", + " definition of HP:0034784 (Vasculitis by anatomical site)\n", + " \n", + " \n", + " Facial telangiectasia\n", + " definition of HP:0007380 (Facial telangiectasia)\n", + " \n", + " \n", + " Telangiectases (small dilated blood vessels) located near the surface of the skin of the face.\n", + " definition of HP:0007380 (Facial telangiectasia)\n", + " \n", + " \n", + " #Facial telangiectatic vessels #Telangiectasia, facial\n", + " definition of HP:0007380 (Facial telangiectasia)\n", + " \n", + " \n", + " Abnormal morphology of the nasal alae\n", + " definition of HP:0000429 (Abnormal morphology of the nasal alae)\n", + " \n", + " \n", + " An abnormality of the Ala of nose.\n", + " definition of HP:0000429 (Abnormal morphology of the nasal alae)\n", + " \n", + " \n", + " #Abnormality of the nasal ala #Abnormality of the nasal alae\n", + " definition of HP:0000429 (Abnormal morphology of the nasal alae)\n", + " \n", + " \n", + " Oppenheim reflex\n", + " definition of HP:0030180 (Oppenheim reflex)\n", + " \n", + " \n", + " Dorsiflexion of the big toe, sometimes accompanied by fanning of the other toes, elicited by stroking along the medial side of the tibia (the normal response would be no movement of the big toe).\n", + " definition of HP:0030180 (Oppenheim reflex)\n", + " \n", + " \n", + " #Oppenheim sign\n", + " definition of HP:0030180 (Oppenheim reflex)\n", + " \n", + " \n", + " Bullet-shaped 5th toe phalanx\n", + " definition of HP:0010385 (Bullet-shaped 5th toe phalanx)\n", + " \n", + " \n", + " An abnormal morphology of one or more phalanges of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.\n", + " definition of HP:0010385 (Bullet-shaped 5th toe phalanx)\n", + " \n", + " \n", + " #Bullet-shaped bones of the little toe #Bullet-shaped bones of the pinkie toe #Bullet-shaped bones of the pinky toe #Bullet-shaped phalanges of the 5th toe\n", + " definition of HP:0010385 (Bullet-shaped 5th toe phalanx)\n", + " \n", + " \n", + " Curved middle toe phalanx\n", + " definition of HP:0010197 (Curved middle toe phalanx)\n", + " \n", + " \n", + " A deviation from the normal straight form of one or more middle toe phalanges.\n", + " definition of HP:0010197 (Curved middle toe phalanx)\n", + " \n", + " \n", + " #Curved middle bones of the toes #Curved middle phalanges of the toes\n", + " definition of HP:0010197 (Curved middle toe phalanx)\n", + " \n", + " \n", + " Abnormal proportion of CD4-positive, alpha-beta memory T cells\n", + " definition of HP:0410379 (Abnormal proportion of CD4-positive, alpha-beta memory T cells)\n", + " \n", + " \n", + " An abnormal proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.\n", + " definition of HP:0410379 (Abnormal proportion of CD4-positive, alpha-beta memory T cells)\n", + " \n", + " \n", + " Scrotal worm\n", + " definition of HP:6001039 (Scrotal worm)\n", + " \n", + " \n", + " Demonstration of one or more worms in the scrotum. This finding can be appreciated by sonography, where echogenic, linear structures could be seen moving within the scrotum.\n", + " definition of HP:6001039 (Scrotal worm)\n", + " \n", + " \n", + " #Filaria dance sign\n", + " definition of HP:6001039 (Scrotal worm)\n", + " \n", + " \n", + " Reduced hepatic ornithine transcarbamylase activity\n", + " definition of HP:6000334 (Reduced hepatic ornithine transcarbamylase activity)\n", + " \n", + " \n", + " Activity or concentration of ornithine transcarbamylase in the liver below the lower limit of normal.\n", + " definition of HP:6000334 (Reduced hepatic ornithine transcarbamylase activity)\n", + " \n", + " \n", + " Hopelessness\n", + " definition of HP:5200271 (Hopelessness)\n", + " \n", + " \n", + " Persistent and excessive feelings of despair with an overwhelming lack of hope. While hopelessness is primarily a personal experience, the sense of hopelessness becomes pervasive and affects most aspects of the personal experience in relation to the world. For example the person may communicate a sense of hopelessness for family and friends (who themselves do not experience hopelessness), as well as the world in general.\n", + " definition of HP:5200271 (Hopelessness)\n", + " \n", + " \n", + " #Exaggerated pessimism #Hopeless\n", + " definition of HP:5200271 (Hopelessness)\n", + " \n", + " \n", + " Central hypoventilation\n", + " definition of HP:0007110 (Central hypoventilation)\n", + " \n", + " \n", + " Abetalipoproteinemia\n", + " definition of HP:0008181 (Abetalipoproteinemia)\n", + " \n", + " \n", + " An absence of low-density lipoprotein cholesterol in the blood.\n", + " definition of HP:0008181 (Abetalipoproteinemia)\n", + " \n", + " \n", + " Cone-shaped epiphyses of the distal phalanges of the hand\n", + " definition of HP:0010248 (Cone-shaped epiphyses of the distal phalanges of the hand)\n", + " \n", + " \n", + " #Cone-shaped end part of the outermost hand bones\n", + " definition of HP:0010248 (Cone-shaped epiphyses of the distal phalanges of the hand)\n", + " \n", + " \n", + " Mottled pigmentation of photoexposed areas\n", + " definition of HP:0007511 (Mottled pigmentation of photoexposed areas)\n", + " \n", + " \n", + " Cortical radial artery lymphocyte hypercellularity\n", + " definition of HP:0033956 (Cortical radial artery lymphocyte hypercellularity)\n", + " \n", + " \n", + " A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of cortical radial arteries.\n", + " definition of HP:0033956 (Cortical radial artery lymphocyte hypercellularity)\n", + " \n", + " \n", + " #Endoarterial hypercellularity within interlobular artery consisting of lymphocytes\n", + " definition of HP:0033956 (Cortical radial artery lymphocyte hypercellularity)\n", + " \n", + " \n", + " Gluten allergy\n", + " definition of HP:0410329 (Gluten allergy)\n", + " \n", + " \n", + " Hypersensitivity in form of an adverse immune reaction against gluten.\n", + " definition of HP:0410329 (Gluten allergy)\n", + " \n", + " \n", + " #Allergy to gluten #Gluten allergy #IgE-mediated gluten allergy #Immunoglobulin E-mediated gluten allergy\n", + " definition of HP:0410329 (Gluten allergy)\n", + " \n", + " \n", + " Thoracic kyphosis\n", + " definition of HP:0002942 (Thoracic kyphosis)\n", + " \n", + " \n", + " Over curvature of the thoracic region, leading to a round back or if sever to a hump.\n", + " definition of HP:0002942 (Thoracic kyphosis)\n", + " \n", + " \n", + " #Accentuated thoracic kyphosis #Exaggerated thoracic kyphosis\n", + " definition of HP:0002942 (Thoracic kyphosis)\n", + " \n", + " \n", + " Non-small cell lung carcinoma\n", + " definition of HP:0030358 (Non-small cell lung carcinoma)\n", + " \n", + " \n", + " #Non-small cell lung cancer\n", + " definition of HP:0030358 (Non-small cell lung carcinoma)\n", + " \n", + " \n", + " 2-5 finger cutaneous syndactyly\n", + " definition of HP:0005650 (2-5 finger cutaneous syndactyly)\n", + " \n", + " \n", + " A soft tissue continuity in the anteroposterior axis between the second to the fifth fingers that extends distally to at least the level of the proximal interphalangeal joints.\n", + " definition of HP:0005650 (2-5 finger cutaneous syndactyly)\n", + " \n", + " \n", + " #Cutaneous syndactyly between fingers 2 and 5 #Webbed 2nd-5th fingers\n", + " definition of HP:0005650 (2-5 finger cutaneous syndactyly)\n", + " \n", + " \n", + " Mesomelic/rhizomelic limb shortening\n", + " definition of HP:0005026 (Mesomelic/rhizomelic limb shortening)\n", + " \n", + " \n", + " Abnormality of the proximal radial epiphysis\n", + " definition of HP:0010596 (Abnormality of the proximal radial epiphysis)\n", + " \n", + " \n", + " Any abnormality of the proximal epiphysis of the radius.\n", + " definition of HP:0010596 (Abnormality of the proximal radial epiphysis)\n", + " \n", + " \n", + " Cerebellar calcifications\n", + " definition of HP:0007352 (Cerebellar calcifications)\n", + " \n", + " \n", + " Rectal prolapse\n", + " definition of HP:0002035 (Rectal prolapse)\n", + " \n", + " \n", + " Protrusion of the rectal mucous membrane through the anus.\n", + " definition of HP:0002035 (Rectal prolapse)\n", + " \n", + " \n", + " #Rectum protrudes through anus\n", + " definition of HP:0002035 (Rectal prolapse)\n", + " \n", + " \n", + " Abnormality of urine bicarbonate level\n", + " definition of HP:0011279 (Abnormality of urine bicarbonate level)\n", + " \n", + " \n", + " An abnormal amount of hydrogencarbonate in the urine.\n", + " definition of HP:0011279 (Abnormality of urine bicarbonate level)\n", + " \n", + " \n", + " #Abnormality of urine HCO3 concentration\n", + " definition of HP:0011279 (Abnormality of urine bicarbonate level)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of metatarsal bones\n", + " definition of HP:0001964 (Aplasia/Hypoplasia of metatarsal bones)\n", + " \n", + " \n", + " Absence or underdevelopment of the metatarsal bones.\n", + " definition of HP:0001964 (Aplasia/Hypoplasia of metatarsal bones)\n", + " \n", + " \n", + " #Absent or hypoplastic metatarsal #Absent/hypoplastic metacarpals #Absent/hypoplastic metatarsals #Absent/small long bone of foot #Absent/underdeveloped long bone of foot #Aplastic/hypoplastic metatarsals\n", + " definition of HP:0001964 (Aplasia/Hypoplasia of metatarsal bones)\n", + " \n", + " \n", + " Abnormal eosinophil morphology\n", + " definition of HP:0001879 (Abnormal eosinophil morphology)\n", + " \n", + " \n", + " An abnormal count or structure of eosinophils.\n", + " definition of HP:0001879 (Abnormal eosinophil morphology)\n", + " \n", + " \n", + " #Abnormality of eosinophils\n", + " definition of HP:0001879 (Abnormal eosinophil morphology)\n", + " \n", + " \n", + " Duodenal atrophy\n", + " definition of HP:0012414 (Duodenal atrophy)\n", + " \n", + " \n", + " Wasting or decrease in size of all or part of the duodenum.\n", + " definition of HP:0012414 (Duodenal atrophy)\n", + " \n", + " \n", + " Swiss cheese atrial septal defect\n", + " definition of HP:0031017 (Swiss cheese atrial septal defect)\n", + " \n", + " \n", + " Multiple defects in the atrial septum.\n", + " definition of HP:0031017 (Swiss cheese atrial septal defect)\n", + " \n", + " \n", + " Focal cognitive seizure with hallucination\n", + " definition of HP:0012007 (Focal cognitive seizure with hallucination)\n", + " \n", + " \n", + " A focal cognitive seizure characterized by hallucination as the initial semiological manifestation.\n", + " definition of HP:0012007 (Focal cognitive seizure with hallucination)\n", + " \n", + " \n", + " #Hallucinatory aura #Hallucinatory auras\n", + " definition of HP:0012007 (Focal cognitive seizure with hallucination)\n", + " \n", + " \n", + " Glomerular C3 deposition\n", + " definition of HP:0012576 (Glomerular C3 deposition)\n", + " \n", + " \n", + " The presence of complement 3 deposits in the glomerulus.\n", + " definition of HP:0012576 (Glomerular C3 deposition)\n", + " \n", + " \n", + " #Renal C3 deposition\n", + " definition of HP:0012576 (Glomerular C3 deposition)\n", + " \n", + " \n", + " Anti-endomysial antibody positivity\n", + " definition of HP:0033637 (Anti-endomysial antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against endomysial tissue transglutaminase 2 (tTG2).\n", + " definition of HP:0033637 (Anti-endomysial antibody positivity)\n", + " \n", + " \n", + " #Anti-transglutaminase 2 antibody positivity\n", + " definition of HP:0033637 (Anti-endomysial antibody positivity)\n", + " \n", + " \n", + " Aplasia/hypoplasia of the uterus\n", + " definition of HP:0008684 (Aplasia/hypoplasia of the uterus)\n", + " \n", + " \n", + " Absence or developmental hypoplasia of the uterus.\n", + " definition of HP:0008684 (Aplasia/hypoplasia of the uterus)\n", + " \n", + " \n", + " #Absent/small uterus #Absent/underdeveloped uterus\n", + " definition of HP:0008684 (Aplasia/hypoplasia of the uterus)\n", + " \n", + " \n", + " Ulnar deviation of the hand\n", + " definition of HP:0009487 (Ulnar deviation of the hand)\n", + " \n", + " \n", + " Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger).\n", + " definition of HP:0009487 (Ulnar deviation of the hand)\n", + " \n", + " \n", + " #Ulnar deviation of hands #Ulnar deviation of the hands\n", + " definition of HP:0009487 (Ulnar deviation of the hand)\n", + " \n", + " \n", + " Permanent junctional reciprocating tachycardia\n", + " definition of HP:0011690 (Permanent junctional reciprocating tachycardia)\n", + " \n", + " \n", + " An incessant orthodromic tachycardia with anterograde conduction over the atrioventricular node and by retrograde conduction via an accessory pathway usually located in the posteroseptal region with slow and decremental conduction.\n", + " definition of HP:0011690 (Permanent junctional reciprocating tachycardia)\n", + " \n", + " \n", + " Renal cortical interstitial inflammation\n", + " definition of HP:0032946 (Renal cortical interstitial inflammation)\n", + " \n", + " \n", + " Histopathological findings of inflammation of the renal interstitium involving fibrotic as well as non-fibrotic renal cortex, composed of lymphocytes, monocytes, plasma cells.\n", + " definition of HP:0032946 (Renal cortical interstitial inflammation)\n", + " \n", + " \n", + " Glomerular synechial adhesion\n", + " definition of HP:0033227 (Glomerular synechial adhesion)\n", + " \n", + " \n", + " An area of basement membrane continuity between the glomerular tuft and Bowman's capsule, without intervening crescent and not adjacent to an area of segmental sclerosis.\n", + " definition of HP:0033227 (Glomerular synechial adhesion)\n", + " \n", + " \n", + " Segmentally thickened glomerular basement membrane\n", + " definition of HP:0033283 (Segmentally thickened glomerular basement membrane)\n", + " \n", + " \n", + " Prominent glomerular basement membrane (GBM) reflecting a segmental and increase in thickness (subjective estimate) with no evidence of electron dense deposits by EM. Thickening is measured from endothelial to visceral epithelial plasma membrane and mainly attributable to an increase in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations greater than that of the normal mean GBM thickness for health age- and sex matched individuals.\n", + " definition of HP:0033283 (Segmentally thickened glomerular basement membrane)\n", + " \n", + " \n", + " True hermaphroditism\n", + " definition of HP:0010459 (True hermaphroditism)\n", + " \n", + " \n", + " The presence of both ovarian and testicular tissues either in the same or in opposite gonads. Affected persons have ambiguous genitalia and may have 46,XX or 46,XY karyotypes or 46,XX/XY mosaicism.\n", + " definition of HP:0010459 (True hermaphroditism)\n", + " \n", + " \n", + " #Testicular and ovarian tissue present\n", + " definition of HP:0010459 (True hermaphroditism)\n", + " \n", + " \n", + " Rhizo-meso-acromelic limb shortening\n", + " definition of HP:0005069 (Rhizo-meso-acromelic limb shortening)\n", + " \n", + " \n", + " Dacryocystitis\n", + " definition of HP:0000620 (Dacryocystitis)\n", + " \n", + " \n", + " Inflammation of the nasolacrimal sac.\n", + " definition of HP:0000620 (Dacryocystitis)\n", + " \n", + " \n", + " #Dacrocystitis #Infection of the lacrimal sac\n", + " definition of HP:0000620 (Dacryocystitis)\n", + " \n", + " \n", + " Sputum eosinophilia\n", + " definition of HP:0032017 (Sputum eosinophilia)\n", + " \n", + " \n", + " An increased proportion of eosinophils in sputum in the differentiated cell count.\n", + " definition of HP:0032017 (Sputum eosinophilia)\n", + " \n", + " \n", + " Secondary Caesarian section\n", + " definition of HP:0030364 (Secondary Caesarian section)\n", + " \n", + " \n", + " Delivery by Caesarian section representing where the mother has already had a previous Cesarean delivery, and this is a repeat Cesarean birth.\n", + " definition of HP:0030364 (Secondary Caesarian section)\n", + " \n", + " \n", + " Everted antitragus\n", + " definition of HP:0011248 (Everted antitragus)\n", + " \n", + " \n", + " Positioning of the antitragus at an angle perpendicular to the plane of the ear (oriented away from the plane of the ear).\n", + " definition of HP:0011248 (Everted antitragus)\n", + " \n", + " \n", + " Decreased mean corpuscular hemoglobin concentration\n", + " definition of HP:0025547 (Decreased mean corpuscular hemoglobin concentration)\n", + " \n", + " \n", + " A reduction from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced.\n", + " definition of HP:0025547 (Decreased mean corpuscular hemoglobin concentration)\n", + " \n", + " \n", + " #Decreased MCH #Decreased MCHC #Decreased mean corpuscular haemoglobin #Decreased mean corpuscular haemoglobin concentration #Decreased mean corpuscular Hb concentration\n", + " definition of HP:0025547 (Decreased mean corpuscular hemoglobin concentration)\n", + " \n", + " \n", + " Submucous cleft hard palate\n", + " definition of HP:0000176 (Submucous cleft hard palate)\n", + " \n", + " \n", + " Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate.\n", + " definition of HP:0000176 (Submucous cleft hard palate)\n", + " \n", + " \n", + " #Partial thickness cleft hard palate #Submucosal cleft palate\n", + " definition of HP:0000176 (Submucous cleft hard palate)\n", + " \n", + " \n", + " Necrotizing pulmonary granulomatosis\n", + " definition of HP:0033550 (Necrotizing pulmonary granulomatosis)\n", + " \n", + " \n", + " A granuloma that is associated with necrotic changes. Caseation necrosis is defined as a region in granulomas with eosinophilic, granular and cheese-like cellular debris with necrosis. The word caseous itself means pertaining or related to cheese, and comes from the Latin word caseus, meaning cheese.\n", + " definition of HP:0033550 (Necrotizing pulmonary granulomatosis)\n", + " \n", + " \n", + " #Caseating pulmonary granulomatosis\n", + " definition of HP:0033550 (Necrotizing pulmonary granulomatosis)\n", + " \n", + " \n", + " Depressed nasal tip\n", + " definition of HP:0000437 (Depressed nasal tip)\n", + " \n", + " \n", + " Decreased distance from the nasal tip to the nasal base.\n", + " definition of HP:0000437 (Depressed nasal tip)\n", + " \n", + " \n", + " #Caved in nasal tip #Depressed nasal tip #Depressed tip of nose #Flat nasal tip #Flat tip of nose #Flattened nasal tip #Nasal tip, depressed #Nasal tip, recessed #Nasal tip, retruded #Retruded tip of nose\n", + " definition of HP:0000437 (Depressed nasal tip)\n", + " \n", + " \n", + " Absent septum pellucidum\n", + " definition of HP:0001331 (Absent septum pellucidum)\n", + " \n", + " \n", + " Absence of the septum pellucidum (meaning translucent wall in Latin - SP), also known as the ventricle of Sylvius. The septum pellucidum is a thin, triangular double membrane separating the frontal horns of the right and left lateral ventricles of the brain. It extends between the anterior portion of the corpus callosum, and the body of the fornix and its width varies from 1.5 to 3.0 mm.\n", + " definition of HP:0001331 (Absent septum pellucidum)\n", + " \n", + " \n", + " #Absence of septum pellucidum #Absence of the septum pellucidum #Agenesis of the septum pellucidum #Missing septum pellucidum\n", + " definition of HP:0001331 (Absent septum pellucidum)\n", + " \n", + " \n", + " Odynophagia\n", + " definition of HP:0032043 (Odynophagia)\n", + " \n", + " \n", + " Pain experienced with swallowing.\n", + " definition of HP:0032043 (Odynophagia)\n", + " \n", + " \n", + " #Painful swallowing\n", + " definition of HP:0032043 (Odynophagia)\n", + " \n", + " \n", + " Abnormal eosinophil count\n", + " definition of HP:0020064 (Abnormal eosinophil count)\n", + " \n", + " \n", + " Any deviation from the normal number of eosinophils per volume in the blood circulation.\n", + " definition of HP:0020064 (Abnormal eosinophil count)\n", + " \n", + " \n", + " Pure ground-glass pulmonary nodule\n", + " definition of HP:0033612 (Pure ground-glass pulmonary nodule)\n", + " \n", + " \n", + " Pure ground-glass pulmonary nodules (GGNs) are defined as focal nodular areas of increased lung attenuation through which lung parenchymal structures, such as the pulmonary vessels or bronchial structures, can be observed.\n", + " definition of HP:0033612 (Pure ground-glass pulmonary nodule)\n", + " \n", + " \n", + " Small epiphyses of the 3rd finger\n", + " definition of HP:0009418 (Small epiphyses of the 3rd finger)\n", + " \n", + " \n", + " Abnormally small size of the epiphyses of the 3rd finger with respect to age-dependent norms.\n", + " definition of HP:0009418 (Small epiphyses of the 3rd finger)\n", + " \n", + " \n", + " #Small end part of middle finger bone\n", + " definition of HP:0009418 (Small epiphyses of the 3rd finger)\n", + " \n", + " \n", + " Irregular, rachitic-like metaphyses\n", + " definition of HP:0005042 (Irregular, rachitic-like metaphyses)\n", + " \n", + " \n", + " Spastic diplegia\n", + " definition of HP:0001264 (Spastic diplegia)\n", + " \n", + " \n", + " Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis.\n", + " definition of HP:0001264 (Spastic diplegia)\n", + " \n", + " \n", + " #Spastic diparesis #Spastic diplegic\n", + " definition of HP:0001264 (Spastic diplegia)\n", + " \n", + " \n", + " Multilamellation of cortical peritubular capillary basement membranes\n", + " definition of HP:0033861 (Multilamellation of cortical peritubular capillary basement membranes)\n", + " \n", + " \n", + " Duplicated basement membranes of the peritubular capillaries located in the cortex of the kidney and arranged in multiple concentric layers.\n", + " definition of HP:0033861 (Multilamellation of cortical peritubular capillary basement membranes)\n", + " \n", + " \n", + " #Multilamellation of basement membranes within cortical peritubular capillaries\n", + " definition of HP:0033861 (Multilamellation of cortical peritubular capillary basement membranes)\n", + " \n", + " \n", + " Abnormality of temporalis muscle\n", + " definition of HP:3000017 (Abnormality of temporalis muscle)\n", + " \n", + " \n", + " An abnormality of a temporalis muscle.\n", + " definition of HP:3000017 (Abnormality of temporalis muscle)\n", + " \n", + " \n", + " Jerk-locked premyoclonus spikes\n", + " definition of HP:0001351 (Jerk-locked premyoclonus spikes)\n", + " \n", + " \n", + " Jerk-locked averaging (JLA) is used to record the timing and distribution of brain activity preceding brisk involuntary movements such as those observed in patients with myoclonus. JLA is capable of revealing a premyoclonus spike in the absence of paroxysmal activity in the routine EEG.\n", + " definition of HP:0001351 (Jerk-locked premyoclonus spikes)\n", + " \n", + " \n", + " Subdural hygroma\n", + " definition of HP:6001070 (Subdural hygroma)\n", + " \n", + " \n", + " Accumulation of cerebral spinal fluid in the subdural space.\n", + " definition of HP:6001070 (Subdural hygroma)\n", + " \n", + " \n", + " Impaired histidine renal tubular absorption\n", + " definition of HP:0008666 (Impaired histidine renal tubular absorption)\n", + " \n", + " \n", + " Tetralogy of Fallot with atrioventricular canal defect\n", + " definition of HP:0011677 (Tetralogy of Fallot with atrioventricular canal defect)\n", + " \n", + " \n", + " Ganglioside accumulation\n", + " definition of HP:0004345 (Ganglioside accumulation)\n", + " \n", + " \n", + " Defects in the lysosomal glycosidases or specific co-activators, result in accumulation of the substrates, such as glycosphingolipids, including gangliosides in GM1 gangliosidosis (Tay-Sachs disease) and GM2 gangliosidosis (Sandhoff disease).\n", + " definition of HP:0004345 (Ganglioside accumulation)\n", + " \n", + " \n", + " Central vertebral hypoplasia\n", + " definition of HP:0008463 (Central vertebral hypoplasia)\n", + " \n", + " \n", + " Sharp\n", + " definition of HP:0025281 (Sharp)\n", + " \n", + " \n", + " Applied to pain that is described as sharp, i.e., sudden and severe.\n", + " definition of HP:0025281 (Sharp)\n", + " \n", + " \n", + " #Stabbing pain\n", + " definition of HP:0025281 (Sharp)\n", + " \n", + " \n", + " Abnormal HDL subfraction concentration\n", + " definition of HP:0032418 (Abnormal HDL subfraction concentration)\n", + " \n", + " \n", + " An abnormal concentration of an HDL subfraction, which can be determined by methods such as electrophoresis followed by densitometric determination of the areas under the peaks. Large HDL subfractions are defined as HDL1 (greater than 12 nm), HDL2b (9.7-12 nm), and HDL2a (8.8-9.69 nm). Small HDL subfractions are defined as HDL3a (8.2-8.79 nm), HDL3b (7.8-8.19 nm), and HDL3c (7.20-7.79 nm).\n", + " definition of HP:0032418 (Abnormal HDL subfraction concentration)\n", + " \n", + " \n", + " Absent neutrophil specific granules\n", + " definition of HP:0012551 (Absent neutrophil specific granules)\n", + " \n", + " \n", + " Lack of specific granules in neutrophils.\n", + " definition of HP:0012551 (Absent neutrophil specific granules)\n", + " \n", + " \n", + " Limited knee flexion\n", + " definition of HP:0006389 (Limited knee flexion)\n", + " \n", + " \n", + " Reduced ability to flex (bend) the knee joint.\n", + " definition of HP:0006389 (Limited knee flexion)\n", + " \n", + " \n", + " Coarse humeral trabeculae\n", + " definition of HP:0003866 (Coarse humeral trabeculae)\n", + " \n", + " \n", + " Abnormality of circulating beta-2-microglobulin level\n", + " definition of HP:0025345 (Abnormality of circulating beta-2-microglobulin level)\n", + " \n", + " \n", + " A deviation from the normal concentration of beta-2-microglobulin in the blood.\n", + " definition of HP:0025345 (Abnormality of circulating beta-2-microglobulin level)\n", + " \n", + " \n", + " #Abnormality of circulating B2M level #Abnormality of circulating beta2 microglobulin level #Abnormality of circulating beta2-m level #Abnormality of circulating beta2m level\n", + " definition of HP:0025345 (Abnormality of circulating beta-2-microglobulin level)\n", + " \n", + " \n", + " Abnormal male internal genitalia morphology\n", + " definition of HP:0000022 (Abnormal male internal genitalia morphology)\n", + " \n", + " \n", + " An abnormality of the male internal genitalia.\n", + " definition of HP:0000022 (Abnormal male internal genitalia morphology)\n", + " \n", + " \n", + " Diabetes mellitus\n", + " definition of HP:0000819 (Diabetes mellitus)\n", + " \n", + " \n", + " A group of abnormalities characterized by hyperglycemia and glucose intolerance.\n", + " definition of HP:0000819 (Diabetes mellitus)\n", + " \n", + " \n", + " Abnormal medulla oblongata morphology\n", + " definition of HP:0011441 (Abnormal medulla oblongata morphology)\n", + " \n", + " \n", + " An abnormality of the medulla oblongata, the lower half of the brainstem.\n", + " definition of HP:0011441 (Abnormal medulla oblongata morphology)\n", + " \n", + " \n", + " #Abnormality of the medulla oblongata #Abnormality of the myencephalon\n", + " definition of HP:0011441 (Abnormal medulla oblongata morphology)\n", + " \n", + " \n", + " Uvular swelling\n", + " definition of HP:6000177 (Uvular swelling)\n", + " \n", + " \n", + " Abnormal enlargement of the uvula related to an abnormal accumulation of fluid.\n", + " definition of HP:6000177 (Uvular swelling)\n", + " \n", + " \n", + " Increased reactive oxygen species production\n", + " definition of HP:0025464 (Increased reactive oxygen species production)\n", + " \n", + " \n", + " An accumulation of free radical groups in the body inadequately neutralized by antioxidants, which creates a potentially unstable and damaging cellular environment linked to tissue damage.\n", + " definition of HP:0025464 (Increased reactive oxygen species production)\n", + " \n", + " \n", + " #Increased ROS production\n", + " definition of HP:0025464 (Increased reactive oxygen species production)\n", + " \n", + " \n", + " Mandibular prognathia\n", + " definition of HP:0000303 (Mandibular prognathia)\n", + " \n", + " \n", + " Abnormal prominence of the chin related to increased length of the mandible.\n", + " definition of HP:0000303 (Mandibular prognathia)\n", + " \n", + " \n", + " #Big lower jaw #Big mandible #Enlarged mandible #Enlargement of mandible #Hyperplasia of lower jaw #Increased projection of lower jaw #Increased projection of mandible #Increased size of lower jaw #Large lower jaw #Large mandible #Lower jaw excess #Lower jaw hyperplasia #Macromandible #Mandible prognathism #Mandibular excess #Mandibular hyperplasia #Mandibular macrognathia #Mandibular prognathism #Prognathia #Prognathism #Prominent chin #Prominent jaw #Prominent lower jaw #Prominent mandible #Relative mandibular prognathism\n", + " definition of HP:0000303 (Mandibular prognathia)\n", + " \n", + " \n", + " Frequent temper tantrums\n", + " definition of HP:0025161 (Frequent temper tantrums)\n", + " \n", + " \n", + " Temper tantrums that occur more frequently compared to the temper tantrums that are a part of the normal developmental process.\n", + " definition of HP:0025161 (Frequent temper tantrums)\n", + " \n", + " \n", + " Vulvar adenocarcinoma\n", + " definition of HP:0030420 (Vulvar adenocarcinoma)\n", + " \n", + " \n", + " An adenocarcinoma arising in the vulva.\n", + " definition of HP:0030420 (Vulvar adenocarcinoma)\n", + " \n", + " \n", + " Upper eyelid retraction\n", + " definition of HP:0500044 (Upper eyelid retraction)\n", + " \n", + " \n", + " An elevation of the eyelid above the normal level in the primary position.\n", + " definition of HP:0500044 (Upper eyelid retraction)\n", + " \n", + " \n", + " Dilatation of mesenteric artery\n", + " definition of HP:0011934 (Dilatation of mesenteric artery)\n", + " \n", + " \n", + " Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery or superior mesenteric artery .\n", + " definition of HP:0011934 (Dilatation of mesenteric artery)\n", + " \n", + " \n", + " Steep acetabular roof\n", + " definition of HP:0010455 (Steep acetabular roof)\n", + " \n", + " \n", + " An exaggeration of the normal arched form of the acetabular roof such that it takes on a steep appearance.\n", + " definition of HP:0010455 (Steep acetabular roof)\n", + " \n", + " \n", + " Scapular exostoses\n", + " definition of HP:0000918 (Scapular exostoses)\n", + " \n", + " \n", + " The presence of multiple exostoses on the scapula. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage.\n", + " definition of HP:0000918 (Scapular exostoses)\n", + " \n", + " \n", + " #Scapulae exostoses #Shoulder bone exostoes\n", + " definition of HP:0000918 (Scapular exostoses)\n", + " \n", + " \n", + " Abnormal small intestinal villus morphology\n", + " definition of HP:0011472 (Abnormal small intestinal villus morphology)\n", + " \n", + " \n", + " #Abnormal shape of small intestinal villus #Abnormality of small intestinal villus morphology\n", + " definition of HP:0011472 (Abnormal small intestinal villus morphology)\n", + " \n", + " \n", + " Abnormal circulating long-chain fatty-acid concentration\n", + " definition of HP:0010964 (Abnormal circulating long-chain fatty-acid concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of a long-chain fatty acid in the blood circulation.\n", + " definition of HP:0010964 (Abnormal circulating long-chain fatty-acid concentration)\n", + " \n", + " \n", + " Increased left ventricular end-diastolic volume\n", + " definition of HP:0033755 (Increased left ventricular end-diastolic volume)\n", + " \n", + " \n", + " Abnormally high volume of blood in the left ventricle at the end of diastole (just before systole).\n", + " definition of HP:0033755 (Increased left ventricular end-diastolic volume)\n", + " \n", + " \n", + " Pseudoepiphysis of the thumb\n", + " definition of HP:0009693 (Pseudoepiphysis of the thumb)\n", + " \n", + " \n", + " A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of one or more phalanges of the thumb.\n", + " definition of HP:0009693 (Pseudoepiphysis of the thumb)\n", + " \n", + " \n", + " #Pseudoepiphyses of the thumb\n", + " definition of HP:0009693 (Pseudoepiphysis of the thumb)\n", + " \n", + " \n", + " Fatigable weakness of distal limb muscles\n", + " definition of HP:0030198 (Fatigable weakness of distal limb muscles)\n", + " \n", + " \n", + " A type of weakness of a skeletal muscle of distal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.\n", + " definition of HP:0030198 (Fatigable weakness of distal limb muscles)\n", + " \n", + " \n", + " Thickened cortex of long bones\n", + " definition of HP:0000935 (Thickened cortex of long bones)\n", + " \n", + " \n", + " Abnormal thickening of the cortex of long bones.\n", + " definition of HP:0000935 (Thickened cortex of long bones)\n", + " \n", + " \n", + " #Broad cortex of long bones #Cortical thickening of the long bones #Thickened cortices of long bones\n", + " definition of HP:0000935 (Thickened cortex of long bones)\n", + " \n", + " \n", + " Toxemia of pregnancy\n", + " definition of HP:0100603 (Toxemia of pregnancy)\n", + " \n", + " \n", + " Pregnancy-induced toxic reactions of the mother that can be as harmless as slight Maternal hypertension or as life threatening as Eclampsia.\n", + " definition of HP:0100603 (Toxemia of pregnancy)\n", + " \n", + " \n", + " #Hypertensive disorder of pregnancy #Toxaemia of pregnancy\n", + " definition of HP:0100603 (Toxemia of pregnancy)\n", + " \n", + " \n", + " Abnormality of the submandibular region\n", + " definition of HP:0410013 (Abnormality of the submandibular region)\n", + " \n", + " \n", + " Any abnormality of the submandibular region, the region between the mandible and the hyoid bone contains the submandibular and sublingual glands, suprahyoid muscles, submandibular ganglion, and lingual artery.\n", + " definition of HP:0410013 (Abnormality of the submandibular region)\n", + " \n", + " \n", + " Distal shortening of limbs\n", + " definition of HP:0006402 (Distal shortening of limbs)\n", + " \n", + " \n", + " #Short outer part of limbs\n", + " definition of HP:0006402 (Distal shortening of limbs)\n", + " \n", + " \n", + " Abnormal circulating pyrimidine concentration\n", + " definition of HP:0004353 (Abnormal circulating pyrimidine concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of a pyrimidine in the blood circulation.\n", + " definition of HP:0004353 (Abnormal circulating pyrimidine concentration)\n", + " \n", + " \n", + " Frontotemporal hypertrichosis\n", + " definition of HP:0032313 (Frontotemporal hypertrichosis)\n", + " \n", + " \n", + " Excessive, increased hair growth located in the region of the forehead and temple.\n", + " definition of HP:0032313 (Frontotemporal hypertrichosis)\n", + " \n", + " \n", + " Steroid-dependent nephrotic syndrome\n", + " definition of HP:0025650 (Steroid-dependent nephrotic syndrome)\n", + " \n", + " \n", + " A type of nephrotic syndrome in which two consecutive relapses (albumin urine dipstick at least 3+ or proteinuria greater than 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) occur during corticosteroid therapy, or within 14 days of ceasing therapy.\n", + " definition of HP:0025650 (Steroid-dependent nephrotic syndrome)\n", + " \n", + " \n", + " #SDNS\n", + " definition of HP:0025650 (Steroid-dependent nephrotic syndrome)\n", + " \n", + " \n", + " Amaurosis fugax\n", + " definition of HP:0100576 (Amaurosis fugax)\n", + " \n", + " \n", + " A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition.\n", + " definition of HP:0100576 (Amaurosis fugax)\n", + " \n", + " \n", + " Hip internal rotation contracture\n", + " definition of HP:0034993 (Hip internal rotation contracture)\n", + " \n", + " \n", + " Left\n", + " definition of HP:0012835 (Left)\n", + " \n", + " \n", + " Being located on the left side of the body.\n", + " definition of HP:0012835 (Left)\n", + " \n", + " \n", + " #Left-sided\n", + " definition of HP:0012835 (Left)\n", + " \n", + " \n", + " Pseudoseizure\n", + " definition of HP:0033053 (Pseudoseizure)\n", + " \n", + " \n", + " Sudden, involuntary seizure-like attacks that, unlike epileptic seizures, are not related to electrographic ictal discharges.\n", + " definition of HP:0033053 (Pseudoseizure)\n", + " \n", + " \n", + " Intermittent hyperpnea at rest\n", + " definition of HP:0005941 (Intermittent hyperpnea at rest)\n", + " \n", + " \n", + " Mucinous cystic neoplasm of the pancreas\n", + " definition of HP:0031496 (Mucinous cystic neoplasm of the pancreas)\n", + " \n", + " \n", + " Mucin-producing and septated cyst-forming epithelial neoplasia of the pancreas with a distinctive ovarian-type stroma.\n", + " definition of HP:0031496 (Mucinous cystic neoplasm of the pancreas)\n", + " \n", + " \n", + " Abnormal hemoglobin\n", + " definition of HP:0011902 (Abnormal hemoglobin)\n", + " \n", + " \n", + " Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes.\n", + " definition of HP:0011902 (Abnormal hemoglobin)\n", + " \n", + " \n", + " #Abnormal haemoglobin #Abnormal Hb\n", + " definition of HP:0011902 (Abnormal hemoglobin)\n", + " \n", + " \n", + " Abnormal lymph node marginal zone morphology\n", + " definition of HP:0020250 (Abnormal lymph node marginal zone morphology)\n", + " \n", + " \n", + " Fourth cranial nerve palsy\n", + " definition of HP:0007011 (Fourth cranial nerve palsy)\n", + " \n", + " \n", + " Paralysis of the fourth cranial (trochlear) nerve manifested as weakness of the superior oblique muscle which causes vertical diplopia that is maximal when the affected eye is adducted and directed inferiorly.\n", + " definition of HP:0007011 (Fourth cranial nerve palsy)\n", + " \n", + " \n", + " #Trochlear nerve palsy\n", + " definition of HP:0007011 (Fourth cranial nerve palsy)\n", + " \n", + " \n", + " Impaired cortisol response to glucagon stimulation test\n", + " definition of HP:0031081 (Impaired cortisol response to glucagon stimulation test)\n", + " \n", + " \n", + " Failure of cortisol levels to respond adequately (by increasing) to the glucagon stimulation test.\n", + " definition of HP:0031081 (Impaired cortisol response to glucagon stimulation test)\n", + " \n", + " \n", + " Progressive transformation of germinal centers\n", + " definition of HP:0020262 (Progressive transformation of germinal centers)\n", + " \n", + " \n", + " This is a condition sometimes seen in a subset of germinal centers of reactive lymph nodes where germinal centers become enlarged and infiltrated by benign mantle zone cells and some T cells.\n", + " definition of HP:0020262 (Progressive transformation of germinal centers)\n", + " \n", + " \n", + " #PTGC\n", + " definition of HP:0020262 (Progressive transformation of germinal centers)\n", + " \n", + " \n", + " Femoral osteopoikilosis\n", + " definition of HP:6000943 (Femoral osteopoikilosis)\n", + " \n", + " \n", + " Multiple multiple, small, well-defined radiodense foci of cortical-like bone in the medullary space parallel to the trabeculae located in the femur. The loci correspond to condensations of the lamellar trabeculae on histology.\n", + " definition of HP:6000943 (Femoral osteopoikilosis)\n", + " \n", + " \n", + " #Femoral slcerotic foci #Sclerotic foci of the femur\n", + " definition of HP:6000943 (Femoral osteopoikilosis)\n", + " \n", + " \n", + " Elevated CSF angiotensin-converting enzyme concentration\n", + " definition of HP:0034406 (Elevated CSF angiotensin-converting enzyme concentration)\n", + " \n", + " \n", + " #Angiotensin-converting enzyme (ACE) high in CSF #Angiotensin-converting enzyme high in CSF\n", + " definition of HP:0034406 (Elevated CSF angiotensin-converting enzyme concentration)\n", + " \n", + " \n", + " Abnormal cranial nerve morphology\n", + " definition of HP:0001291 (Abnormal cranial nerve morphology)\n", + " \n", + " \n", + " Structural abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem.\n", + " definition of HP:0001291 (Abnormal cranial nerve morphology)\n", + " \n", + " \n", + " #Abnormality of cranial nerve #Abnormality of the cranial nerves #Cranial nerve disease #Cranial nerve involvement\n", + " definition of HP:0001291 (Abnormal cranial nerve morphology)\n", + " \n", + " \n", + " Tibialis muscle weakness\n", + " definition of HP:0008963 (Tibialis muscle weakness)\n", + " \n", + " \n", + " Muscle weakness affecting the tibialis anterior muscle.\n", + " definition of HP:0008963 (Tibialis muscle weakness)\n", + " \n", + " \n", + " Patellar aplasia\n", + " definition of HP:0006443 (Patellar aplasia)\n", + " \n", + " \n", + " Absence of the patella.\n", + " definition of HP:0006443 (Patellar aplasia)\n", + " \n", + " \n", + " #Absent kneecap #Absent patella #Absent patellae #Absent patellas #Aplastic patellae\n", + " definition of HP:0006443 (Patellar aplasia)\n", + " \n", + " \n", + " Fingerprint bodies\n", + " definition of HP:0034508 (Fingerprint bodies)\n", + " \n", + " \n", + " Fingerprint bodies are inclusion bodies located at the periphery of the muscle fibers underneath the sarcolemma (subsarcolemmal), consisting of non-membrane-bound packed lamellae arranged in concentric patterns resembling fingerprints.\n", + " definition of HP:0034508 (Fingerprint bodies)\n", + " \n", + " \n", + " #Muscle biopsy: fingerprint bodies at periphery of muscle fibers #Muscle biopsy: fingerprint bodies at periphery of muscle fibres\n", + " definition of HP:0034508 (Fingerprint bodies)\n", + " \n", + " \n", + " Focal impaired awareness autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena\n", + " definition of HP:0032778 (Focal impaired awareness autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena)\n", + " \n", + " \n", + " A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by impaired awareness at some point during the seizure.\n", + " definition of HP:0032778 (Focal impaired awareness autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena)\n", + " \n", + " \n", + " Hyperprostaglandinuria\n", + " definition of HP:0003527 (Hyperprostaglandinuria)\n", + " \n", + " \n", + " An increased concentration of prostaglandin in the urine.\n", + " definition of HP:0003527 (Hyperprostaglandinuria)\n", + " \n", + " \n", + " #High urine prostaglandin levels\n", + " definition of HP:0003527 (Hyperprostaglandinuria)\n", + " \n", + " \n", + " Right axis deviation\n", + " definition of HP:0033567 (Right axis deviation)\n", + " \n", + " \n", + " A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between +90 degrees and 180 degrees, or beyond +100 degrees if the adult range is used.\n", + " definition of HP:0033567 (Right axis deviation)\n", + " \n", + " \n", + " #Electrical right axis deviation #RAD\n", + " definition of HP:0033567 (Right axis deviation)\n", + " \n", + " \n", + " Frequency\n", + " definition of HP:0040279 (Frequency)\n", + " \n", + " \n", + " Class to represent frequency of phenotypic abnormalities within a patient cohort.\n", + " definition of HP:0040279 (Frequency)\n", + " \n", + " \n", + " Mania\n", + " definition of HP:0100754 (Mania)\n", + " \n", + " \n", + " A state of abnormally elevated or irritable mood, arousal, and/or energy levels.\n", + " definition of HP:0100754 (Mania)\n", + " \n", + " \n", + " #Hypomania #Hypomanic #Manic\n", + " definition of HP:0100754 (Mania)\n", + " \n", + " \n", + " Elevated bronchoalveolar lavage fluid lymphocyte proportion\n", + " definition of HP:0032976 (Elevated bronchoalveolar lavage fluid lymphocyte proportion)\n", + " \n", + " \n", + " Usually, Lymphoycytes make up less than 15% of all cells found in the bronchoalveloar lavage fluid. This elevated cell proportion can be induced by virus or drugs, or is associated with specific diseases.\n", + " definition of HP:0032976 (Elevated bronchoalveolar lavage fluid lymphocyte proportion)\n", + " \n", + " \n", + " Elevated circulating ribitol concentration\n", + " definition of HP:0025550 (Elevated circulating ribitol concentration)\n", + " \n", + " \n", + " The concentration of ribitol in the blood circulation is above the upper limit of normal.\n", + " definition of HP:0025550 (Elevated circulating ribitol concentration)\n", + " \n", + " \n", + " #Increased circulating ribitol concentration #Increased level of ribitol in serum\n", + " definition of HP:0025550 (Elevated circulating ribitol concentration)\n", + " \n", + " \n", + " Long phalanx of finger\n", + " definition of HP:0006155 (Long phalanx of finger)\n", + " \n", + " \n", + " Increased length of multiple or a single phalanx of finger.\n", + " definition of HP:0006155 (Long phalanx of finger)\n", + " \n", + " \n", + " #Long finger bone\n", + " definition of HP:0006155 (Long phalanx of finger)\n", + " \n", + " \n", + " Elevated circulating insulin:C-peptide ratio\n", + " definition of HP:0034384 (Elevated circulating insulin:C-peptide ratio)\n", + " \n", + " \n", + " Increased ratio of insulin to C-peptide in the blood circulation.\n", + " definition of HP:0034384 (Elevated circulating insulin:C-peptide ratio)\n", + " \n", + " \n", + " Elevated circulating lathosterol concentration\n", + " definition of HP:0034936 (Elevated circulating lathosterol concentration)\n", + " \n", + " \n", + " Concentration of lathosterol in the blood circulation above the upper limit of normal.\n", + " definition of HP:0034936 (Elevated circulating lathosterol concentration)\n", + " \n", + " \n", + " Irregular central macular autofluorescence\n", + " definition of HP:0030630 (Irregular central macular autofluorescence)\n", + " \n", + " \n", + " Bifid penis\n", + " definition of HP:0100599 (Bifid penis)\n", + " \n", + " \n", + " Two penile structures, separated from the tip to the base of the shaft.\n", + " definition of HP:0100599 (Bifid penis)\n", + " \n", + " \n", + " #Diphallia #Penile duplication\n", + " definition of HP:0100599 (Bifid penis)\n", + " \n", + " \n", + " Abnormal renal pelvis morphology\n", + " definition of HP:0010944 (Abnormal renal pelvis morphology)\n", + " \n", + " \n", + " An abnormality of the renal pelvis.\n", + " definition of HP:0010944 (Abnormal renal pelvis morphology)\n", + " \n", + " \n", + " #Abnormality of the renal pelvis\n", + " definition of HP:0010944 (Abnormal renal pelvis morphology)\n", + " \n", + " \n", + " Abnormal temporal bone morphology\n", + " definition of HP:0009911 (Abnormal temporal bone morphology)\n", + " \n", + " \n", + " Abnormality of the temporal bone of the skull, which is situated at the sides and base of the skull roughly underlying the region of the face known as the temple.\n", + " definition of HP:0009911 (Abnormal temporal bone morphology)\n", + " \n", + " \n", + " #Abnormality of the temporal bone\n", + " definition of HP:0009911 (Abnormal temporal bone morphology)\n", + " \n", + " \n", + " Dermal atrophy\n", + " definition of HP:0004334 (Dermal atrophy)\n", + " \n", + " \n", + " Partial or complete wasting (atrophy) of the skin.\n", + " definition of HP:0004334 (Dermal atrophy)\n", + " \n", + " \n", + " #Atrophic skin #Skin atrophy #Skin degeneration\n", + " definition of HP:0004334 (Dermal atrophy)\n", + " \n", + " \n", + " Neoplasm of head and neck\n", + " definition of HP:0012288 (Neoplasm of head and neck)\n", + " \n", + " \n", + " A tumor (abnormal growth of tissue) of the head and neck region with origin in the lip, oral cavity, nasal cavity, paranasal sinuses, pharynx, or larynx.\n", + " definition of HP:0012288 (Neoplasm of head and neck)\n", + " \n", + " \n", + " #Head and neck tumor #Head and neck tumour\n", + " definition of HP:0012288 (Neoplasm of head and neck)\n", + " \n", + " \n", + " Delayed humeral epiphyseal ossification\n", + " definition of HP:0003894 (Delayed humeral epiphyseal ossification)\n", + " \n", + " \n", + " A delay in the process of formation and maturation of the humeral epiphysis.\n", + " definition of HP:0003894 (Delayed humeral epiphyseal ossification)\n", + " \n", + " \n", + " #Delayed maturation/delayed ossification of the humeral epiphyses\n", + " definition of HP:0003894 (Delayed humeral epiphyseal ossification)\n", + " \n", + " \n", + " Interrupted pituitary stalk\n", + " definition of HP:0034978 (Interrupted pituitary stalk)\n", + " \n", + " \n", + " A developmental defect characterized by a discontinuity of the pituitary stalk. The pituitary stalk, also known as the infundibulum or infundibular stalk, is the connection between the hypothalamus and the pituitary gland.\n", + " definition of HP:0034978 (Interrupted pituitary stalk)\n", + " \n", + " \n", + " Shortening of all middle phalanges of the fingers\n", + " definition of HP:0006110 (Shortening of all middle phalanges of the fingers)\n", + " \n", + " \n", + " Short, hypoplastic middle phalanx of finger, affecting all fingers.\n", + " definition of HP:0006110 (Shortening of all middle phalanges of the fingers)\n", + " \n", + " \n", + " Focal aware clonic seizure\n", + " definition of HP:0032711 (Focal aware clonic seizure)\n", + " \n", + " \n", + " A type of focal clonic seizure during which awareness is fully retained throughout.\n", + " definition of HP:0032711 (Focal aware clonic seizure)\n", + " \n", + " \n", + " Bartholin cyst\n", + " definition of HP:0430134 (Bartholin cyst)\n", + " \n", + " \n", + " A fluid-filled sac near the vaginal opening. A Bartholin cyst is usually unilateral, asymptomatic blockage of the Bartholin gland, which may lead to a painless swelling.\n", + " definition of HP:0430134 (Bartholin cyst)\n", + " \n", + " \n", + " #Bartholin duct cyst #Vulvar cyst\n", + " definition of HP:0430134 (Bartholin cyst)\n", + " \n", + " \n", + " Increased amyloid beta 40 peptide CSF concentration\n", + " definition of HP:0025687 (Increased amyloid beta 40 peptide CSF concentration)\n", + " \n", + " \n", + " An elevation above the normal concentration of amyloid beta 40 peptide in the cerebrospinal fluid (CSF).\n", + " definition of HP:0025687 (Increased amyloid beta 40 peptide CSF concentration)\n", + " \n", + " \n", + " Foot osteomyelitis\n", + " definition of HP:0001886 (Foot osteomyelitis)\n", + " \n", + " \n", + " An infection of bone of the foot.\n", + " definition of HP:0001886 (Foot osteomyelitis)\n", + " \n", + " \n", + " #Foot bone infection\n", + " definition of HP:0001886 (Foot osteomyelitis)\n", + " \n", + " \n", + " Muscle fibrillation\n", + " definition of HP:0010546 (Muscle fibrillation)\n", + " \n", + " \n", + " Fine, rapid twitching of individual muscle fibers with little or no movement of the muscle as a whole as ascertained by electromyography (EMG). If a motor neuron or its axon is destroyed, the muscle fibers it innervates undergo denervation atrophy. This leads to hypersensitivity of individual muscle fibers to acetyl choline so that they may contract spontaneously. Isolated activity of individual muscle fibers is generally so fine it cannot be seen through the intact skin, although it can be recorded as a short-duration spike in the EMG.\n", + " definition of HP:0010546 (Muscle fibrillation)\n", + " \n", + " \n", + " #EMG: fibrillations on electromyogram\n", + " definition of HP:0010546 (Muscle fibrillation)\n", + " \n", + " \n", + " Alcohol-induced rhabdomyolysis\n", + " definition of HP:0011440 (Alcohol-induced rhabdomyolysis)\n", + " \n", + " \n", + " Rhabdomyolysis induced by intake of alcohol.\n", + " definition of HP:0011440 (Alcohol-induced rhabdomyolysis)\n", + " \n", + " \n", + " Increased vertical cup-to-disc ratio - 0.8\n", + " definition of HP:0031976 (Increased vertical cup-to-disc ratio - 0.8)\n", + " \n", + " \n", + " Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.8 (The normal cup-to-disc ratio is 0.3).\n", + " definition of HP:0031976 (Increased vertical cup-to-disc ratio - 0.8)\n", + " \n", + " \n", + " Abnormal third toe morphology\n", + " definition of HP:0010320 (Abnormal third toe morphology)\n", + " \n", + " \n", + " An anomaly of the third toe.\n", + " definition of HP:0010320 (Abnormal third toe morphology)\n", + " \n", + " \n", + " #Abnormal 3rd toe morphology #Abnormality of the 3rd toe\n", + " definition of HP:0010320 (Abnormal third toe morphology)\n", + " \n", + " \n", + " Arthralgia of the hip\n", + " definition of HP:0003365 (Arthralgia of the hip)\n", + " \n", + " \n", + " Joint pain affecting the hip.\n", + " definition of HP:0003365 (Arthralgia of the hip)\n", + " \n", + " \n", + " #Coxalgia #Hip arthralgia #Hip joint pain\n", + " definition of HP:0003365 (Arthralgia of the hip)\n", + " \n", + " \n", + " Saccular descending thoracic aortic aneurysm\n", + " definition of HP:0012729 (Saccular descending thoracic aortic aneurysm)\n", + " \n", + " \n", + " An eccentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves only a portion of the circumference of the vessel wall\n", + " definition of HP:0012729 (Saccular descending thoracic aortic aneurysm)\n", + " \n", + " \n", + " Decreased urinary epinephrine level\n", + " definition of HP:0034871 (Decreased urinary epinephrine level)\n", + " \n", + " \n", + " The concentration of epinephrine in the urine, normalized for urine concentration, is below the lower limit of normal.\n", + " definition of HP:0034871 (Decreased urinary epinephrine level)\n", + " \n", + " \n", + " Fatigable weakness of swallowing muscles\n", + " definition of HP:0030195 (Fatigable weakness of swallowing muscles)\n", + " \n", + " \n", + " A type of weakness of the muscles involved in swallowing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.\n", + " definition of HP:0030195 (Fatigable weakness of swallowing muscles)\n", + " \n", + " \n", + " Intestinal worm\n", + " definition of HP:6001038 (Intestinal worm)\n", + " \n", + " \n", + " Presence of one or more adult worms in the intestine as demonstrated by sonography or passage of a worm in the stool. On sonography, worms may appear as linear, echogenic structures within the intestines.\n", + " definition of HP:6001038 (Intestinal worm)\n", + " \n", + " \n", + " Increased circulating inhibin B concentration\n", + " definition of HP:6000520 (Increased circulating inhibin B concentration)\n", + " \n", + " \n", + " The concentration of inhibin B in the blood circulation is above the upper limit of normal.\n", + " definition of HP:6000520 (Increased circulating inhibin B concentration)\n", + " \n", + " \n", + " #Inhibin B high in blood\n", + " definition of HP:6000520 (Increased circulating inhibin B concentration)\n", + " \n", + " \n", + " Gingival recession\n", + " definition of HP:0030816 (Gingival recession)\n", + " \n", + " \n", + " The loss of gum tissue. The result is that gum tissue is recessed and its position on the tooth is lowered, exposing the roots of the teeth.\n", + " definition of HP:0030816 (Gingival recession)\n", + " \n", + " \n", + " #Gum recession #Receding gums\n", + " definition of HP:0030816 (Gingival recession)\n", + " \n", + " \n", + " Abnormal bone structure\n", + " definition of HP:0003330 (Abnormal bone structure)\n", + " \n", + " \n", + " Any anomaly in the composite material or the layered arrangement of the bony skeleton.\n", + " definition of HP:0003330 (Abnormal bone structure)\n", + " \n", + " \n", + " Limb-girdle muscle atrophy\n", + " definition of HP:0003797 (Limb-girdle muscle atrophy)\n", + " \n", + " \n", + " Muscular atrophy affecting the muscles of the limb girdle.\n", + " definition of HP:0003797 (Limb-girdle muscle atrophy)\n", + " \n", + " \n", + " #Wasting of limb-girdle muscle\n", + " definition of HP:0003797 (Limb-girdle muscle atrophy)\n", + " \n", + " \n", + " Decreased hip abduction\n", + " definition of HP:0003184 (Decreased hip abduction)\n", + " \n", + " \n", + " Reduced ability to move the femur outward to the side.\n", + " definition of HP:0003184 (Decreased hip abduction)\n", + " \n", + " \n", + " #Limited hip abduction\n", + " definition of HP:0003184 (Decreased hip abduction)\n", + " \n", + " \n", + " Abnormal urine citrate concentration\n", + " definition of HP:0012404 (Abnormal urine citrate concentration)\n", + " \n", + " \n", + " A deviation from normal of the concentration of citrate(3-) in the urine.\n", + " definition of HP:0012404 (Abnormal urine citrate concentration)\n", + " \n", + " \n", + " #Abnormal urine citrate concentration #Abnormal urine citric acid concentration\n", + " definition of HP:0012404 (Abnormal urine citrate concentration)\n", + " \n", + " \n", + " Anti-SOX1 antibody\n", + " definition of HP:5000033 (Anti-SOX1 antibody)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SOX1. Anti-SOX1 antibodies, also known as antiglial nuclear antibody (AGNA), are specifically found in paraneoplastic neurological disorders. Since SOX1 is expressed in neuronal precursor cells in the developing central nervous system, it has been used as an early marker of neural stem cells.\n", + " definition of HP:5000033 (Anti-SOX1 antibody)\n", + " \n", + " \n", + " #Anti-Sry-like high mobility group box (SOX) 1 antibody\n", + " definition of HP:5000033 (Anti-SOX1 antibody)\n", + " \n", + " \n", + " Eosinophilic lymph node infiltration\n", + " definition of HP:0034522 (Eosinophilic lymph node infiltration)\n", + " \n", + " \n", + " Presence of an elevated number of eosinophils in a lymph node (usually as demonstrated by lymph node biopsy).\n", + " definition of HP:0034522 (Eosinophilic lymph node infiltration)\n", + " \n", + " \n", + " Elevated urinary 2-methyl-3-hydroxybutyric acid level\n", + " definition of HP:6000603 (Elevated urinary 2-methyl-3-hydroxybutyric acid level)\n", + " \n", + " \n", + " The amount of 2-methyl-3-hydroxybutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000603 (Elevated urinary 2-methyl-3-hydroxybutyric acid level)\n", + " \n", + " \n", + " Agenesis of permanent maxillary lateral incisor\n", + " definition of HP:0011050 (Agenesis of permanent maxillary lateral incisor)\n", + " \n", + " \n", + " Agenesis of one or more upper lateral secondary incisor.\n", + " definition of HP:0011050 (Agenesis of permanent maxillary lateral incisor)\n", + " \n", + " \n", + " #Agenesis of permanent upper lateral incisor #Failure of development of permanent maxillary lateral incisor #Failure of development of permanent upper lateral incisor\n", + " definition of HP:0011050 (Agenesis of permanent maxillary lateral incisor)\n", + " \n", + " \n", + " Crumpled humerus\n", + " definition of HP:0003870 (Crumpled humerus)\n", + " \n", + " \n", + " #Crumpled long bone in upper arm\n", + " definition of HP:0003870 (Crumpled humerus)\n", + " \n", + " \n", + " Abnormal ethmoid bone morphology\n", + " definition of HP:0430005 (Abnormal ethmoid bone morphology)\n", + " \n", + " \n", + " An abnormality of the ethmoid bone\n", + " definition of HP:0430005 (Abnormal ethmoid bone morphology)\n", + " \n", + " \n", + " #Abnormality of ethmoid bone\n", + " definition of HP:0430005 (Abnormal ethmoid bone morphology)\n", + " \n", + " \n", + " Lower eyelid retraction\n", + " definition of HP:0030802 (Lower eyelid retraction)\n", + " \n", + " \n", + " Inferior malposition of the lower eyelid margin without eyelid eversion.\n", + " definition of HP:0030802 (Lower eyelid retraction)\n", + " \n", + " \n", + " Mixed sclerosis of humeral metaphyses\n", + " definition of HP:0005825 (Mixed sclerosis of humeral metaphyses)\n", + " \n", + " \n", + " Premature birth\n", + " definition of HP:0001622 (Premature birth)\n", + " \n", + " \n", + " The birth of a baby of less than 37 weeks of gestational age.\n", + " definition of HP:0001622 (Premature birth)\n", + " \n", + " \n", + " #Premature birth #Premature delivery #Premature delivery of affected infants #Preterm birth #Preterm delivery #Shortened gestation time\n", + " definition of HP:0001622 (Premature birth)\n", + " \n", + " \n", + " Leukemia\n", + " definition of HP:0001909 (Leukemia)\n", + " \n", + " \n", + " A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes.\n", + " definition of HP:0001909 (Leukemia)\n", + " \n", + " \n", + " #Leukaemia\n", + " definition of HP:0001909 (Leukemia)\n", + " \n", + " \n", + " Abnormal cardiac exercise stress test\n", + " definition of HP:0500018 (Abnormal cardiac exercise stress test)\n", + " \n", + " \n", + " Abnormal results of exercise on heart function.\n", + " definition of HP:0500018 (Abnormal cardiac exercise stress test)\n", + " \n", + " \n", + " #Abnormal cardiac exercise test #Abnormal treadmill test\n", + " definition of HP:0500018 (Abnormal cardiac exercise stress test)\n", + " \n", + " \n", + " Limited hip extension\n", + " definition of HP:0003093 (Limited hip extension)\n", + " \n", + " \n", + " Limitation of the extension of the hip, i.e., decreased ability to straighten the hip joint and thereby increase the angle between torso and thigh; moving the thigh or top of the pelvis backward.\n", + " definition of HP:0003093 (Limited hip extension)\n", + " \n", + " \n", + " #Limited hip extension #Restricted hip extension\n", + " definition of HP:0003093 (Limited hip extension)\n", + " \n", + " \n", + " Abnormal circulating biotinidase concentration\n", + " definition of HP:0410144 (Abnormal circulating biotinidase concentration)\n", + " \n", + " \n", + " An abnormality in the biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation.\n", + " definition of HP:0410144 (Abnormal circulating biotinidase concentration)\n", + " \n", + " \n", + " #Abnormal biotinidase level\n", + " definition of HP:0410144 (Abnormal circulating biotinidase concentration)\n", + " \n", + " \n", + " Pituitary growth hormone cell adenoma\n", + " definition of HP:0011760 (Pituitary growth hormone cell adenoma)\n", + " \n", + " \n", + " A type of pituitary adenoma that produces growth hormone.\n", + " definition of HP:0011760 (Pituitary growth hormone cell adenoma)\n", + " \n", + " \n", + " #Pituitary somatotropinoma\n", + " definition of HP:0011760 (Pituitary growth hormone cell adenoma)\n", + " \n", + " \n", + " Absent fourth finger distal interphalangeal crease\n", + " definition of HP:0005780 (Absent fourth finger distal interphalangeal crease)\n", + " \n", + " \n", + " Absence of the distal interphalangeal flexion creases of the fourth finger.\n", + " definition of HP:0005780 (Absent fourth finger distal interphalangeal crease)\n", + " \n", + " \n", + " #No fourth finger distal interphalangeal crease\n", + " definition of HP:0005780 (Absent fourth finger distal interphalangeal crease)\n", + " \n", + " \n", + " Typified by incomplete penetrance\n", + " definition of HP:0003829 (Typified by incomplete penetrance)\n", + " \n", + " \n", + " Description of conditions in which not all individuals with a given genotype exhibit the disease. Penetrance is the proportion that develop disease given a lifespan of 80 years.\n", + " definition of HP:0003829 (Typified by incomplete penetrance)\n", + " \n", + " \n", + " #Incomplete penetrance #Reduced penetrance\n", + " definition of HP:0003829 (Typified by incomplete penetrance)\n", + " \n", + " \n", + " Urethral sphincter sclerosis\n", + " definition of HP:0008664 (Urethral sphincter sclerosis)\n", + " \n", + " \n", + " Glucose intolerance\n", + " definition of HP:0001952 (Glucose intolerance)\n", + " \n", + " \n", + " Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM).\n", + " definition of HP:0001952 (Glucose intolerance)\n", + " \n", + " \n", + " #Glucose intolerance\n", + " definition of HP:0001952 (Glucose intolerance)\n", + " \n", + " \n", + " Abnormal urine protein level\n", + " definition of HP:0020129 (Abnormal urine protein level)\n", + " \n", + " \n", + " Any deviation of the concentration of one or more proteins in the urine.\n", + " definition of HP:0020129 (Abnormal urine protein level)\n", + " \n", + " \n", + " Pulmonary blood flow redistribution\n", + " definition of HP:0033674 (Pulmonary blood flow redistribution)\n", + " \n", + " \n", + " Pulmonary blood flow redistribution refers to any departure from the normal distribution of blood flow in the lungs that is caused by an increase in pulmonary vascular resistance elsewhere in the pulmonary vascular bed. Pulmonary blood flow redistribution is indicated by a decrease in the size and/or number of visible pulmonary vessels in one or more lung regions, with a corresponding increase in number and/or size of pulmonary vessels in other parts of the lung.\n", + " definition of HP:0033674 (Pulmonary blood flow redistribution)\n", + " \n", + " \n", + " Aplasia of the fovea\n", + " definition of HP:0011503 (Aplasia of the fovea)\n", + " \n", + " \n", + " Congenital absence of the fovea.\n", + " definition of HP:0011503 (Aplasia of the fovea)\n", + " \n", + " \n", + " #Absent fovea\n", + " definition of HP:0011503 (Aplasia of the fovea)\n", + " \n", + " \n", + " Perivascular small intestinal hyaline deposition\n", + " definition of HP:0034926 (Perivascular small intestinal hyaline deposition)\n", + " \n", + " \n", + " Deposition of a largely amorphous hyaline (transparent and homogeneous) substance around blood vessels in the wall of the small intestine.\n", + " definition of HP:0034926 (Perivascular small intestinal hyaline deposition)\n", + " \n", + " \n", + " Migraine\n", + " definition of HP:0002076 (Migraine)\n", + " \n", + " \n", + " Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.\n", + " definition of HP:0002076 (Migraine)\n", + " \n", + " \n", + " #Intermittent migraine headaches #Migraine #Migraine headache #Migraine headaches\n", + " definition of HP:0002076 (Migraine)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the hallux\n", + " definition of HP:0008362 (Aplasia/Hypoplasia of the hallux)\n", + " \n", + " \n", + " Absence or underdevelopment of the big toe.\n", + " definition of HP:0008362 (Aplasia/Hypoplasia of the hallux)\n", + " \n", + " \n", + " #Absent/small big toe #Absent/underdeveloped big toe #Aplastic/hypoplastic halluces\n", + " definition of HP:0008362 (Aplasia/Hypoplasia of the hallux)\n", + " \n", + " \n", + " Abnormal pupil morphology\n", + " definition of HP:0000615 (Abnormal pupil morphology)\n", + " \n", + " \n", + " An abnormality of the pupil.\n", + " definition of HP:0000615 (Abnormal pupil morphology)\n", + " \n", + " \n", + " #Abnormal pupillary morphology #Abnormality of the pupil #Pupillary abnormalities #Pupillary abnormality\n", + " definition of HP:0000615 (Abnormal pupil morphology)\n", + " \n", + " \n", + " Elfin facies\n", + " definition of HP:0004428 (Elfin facies)\n", + " \n", + " \n", + " This is a description previously used to describe a facial form characterized by a short, upturned nose, wide mouth, widely spaced eyes, and full cheeks. Because of the imprecision in this definition it is preferable to describe these features precisely. This term is retained because it was often used in the past, but it should not be used for new annotations.\n", + " definition of HP:0004428 (Elfin facies)\n", + " \n", + " \n", + " #Elf-like facial appearance #Elf-like facial features\n", + " definition of HP:0004428 (Elfin facies)\n", + " \n", + " \n", + " Thromboembolism\n", + " definition of HP:0001907 (Thromboembolism)\n", + " \n", + " \n", + " The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site.\n", + " definition of HP:0001907 (Thromboembolism)\n", + " \n", + " \n", + " #Blood clot in blood vessel #Thromboembolic disease #Thromboembolic events\n", + " definition of HP:0001907 (Thromboembolism)\n", + " \n", + " \n", + " Arcuate artery endoarterial foam cell hypercellularity\n", + " definition of HP:0033928 (Arcuate artery endoarterial foam cell hypercellularity)\n", + " \n", + " \n", + " A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen.\n", + " definition of HP:0033928 (Arcuate artery endoarterial foam cell hypercellularity)\n", + " \n", + " \n", + " #Endoarterial hypercellularity within arcuate artery consisting of foam cells\n", + " definition of HP:0033928 (Arcuate artery endoarterial foam cell hypercellularity)\n", + " \n", + " \n", + " Hypocapnia in cord blood\n", + " definition of HP:0410215 (Hypocapnia in cord blood)\n", + " \n", + " \n", + " Abnormally decreased blood carbon dioxide (CO2) level in the cord blood.\n", + " definition of HP:0410215 (Hypocapnia in cord blood)\n", + " \n", + " \n", + " #Low cord blood carbon dioxide level\n", + " definition of HP:0410215 (Hypocapnia in cord blood)\n", + " \n", + " \n", + " Prolonged N3 sleep\n", + " definition of HP:5200359 (Prolonged N3 sleep)\n", + " \n", + " \n", + " Increased duration of phase N3 of nonrapid eye movement (NREM) sleep.\n", + " definition of HP:5200359 (Prolonged N3 sleep)\n", + " \n", + " \n", + " Aplasia/Hypoplasia involving the musculature of the upper arm\n", + " definition of HP:0001468 (Aplasia/Hypoplasia involving the musculature of the upper arm)\n", + " \n", + " \n", + " Absence or underdevelopment of the muscles of the upper arm.\n", + " definition of HP:0001468 (Aplasia/Hypoplasia involving the musculature of the upper arm)\n", + " \n", + " \n", + " #Absent/small upper arm muscles #Absent/underdeveloped upper arm muscles\n", + " definition of HP:0001468 (Aplasia/Hypoplasia involving the musculature of the upper arm)\n", + " \n", + " \n", + " Abnormal capillary morphology\n", + " definition of HP:0025016 (Abnormal capillary morphology)\n", + " \n", + " \n", + " A structural anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues.\n", + " definition of HP:0025016 (Abnormal capillary morphology)\n", + " \n", + " \n", + " Subungual fibromas\n", + " definition of HP:0009724 (Subungual fibromas)\n", + " \n", + " \n", + " The presence of fibromata beneath finger or toenails.\n", + " definition of HP:0009724 (Subungual fibromas)\n", + " \n", + " \n", + " Aplasia of the 2nd finger\n", + " definition of HP:0009535 (Aplasia of the 2nd finger)\n", + " \n", + " \n", + " Absent 2nd (index) finger.\n", + " definition of HP:0009535 (Aplasia of the 2nd finger)\n", + " \n", + " \n", + " #Absent index finger #Absent index finger phalanges #Aplasia of the index finger\n", + " definition of HP:0009535 (Aplasia of the 2nd finger)\n", + " \n", + " \n", + " Post-vaccination measles\n", + " definition of HP:0020088 (Post-vaccination measles)\n", + " \n", + " \n", + " Infection with the measles virus of the live-attenuated vaccine. This is an extremely rare event and may indicate immunocompromise in some cases.\n", + " definition of HP:0020088 (Post-vaccination measles)\n", + " \n", + " \n", + " #Vaccine associated measles\n", + " definition of HP:0020088 (Post-vaccination measles)\n", + " \n", + " \n", + " Pulmonary artery adventitial fibrosis\n", + " definition of HP:0033422 (Pulmonary artery adventitial fibrosis)\n", + " \n", + " \n", + " Increased amount of collagen, proteoglycans, and other extracellular matrix proteins resulting in scarring and thickening in the adventia of the pulmonary arterial tree.\n", + " definition of HP:0033422 (Pulmonary artery adventitial fibrosis)\n", + " \n", + " \n", + " Family history\n", + " definition of HP:0032316 (Family history)\n", + " \n", + " \n", + " Information about close relatives of an individual who is the proband of a study or who is being investigated with the goal of identifying a medical diagnosis. Usually, the family history includes information from three generations of relatives, including children, brothers and sisters, parents, aunts and uncles, nieces and nephews, grandparents, and cousins.\n", + " definition of HP:0032316 (Family history)\n", + " \n", + " \n", + " Elevated imprint of the transverse sinuses\n", + " definition of HP:0000930 (Elevated imprint of the transverse sinuses)\n", + " \n", + " \n", + " #Elevated imprint of occipital bone over the transverse sinuses #Elevated imprint of posterior skull bones over the transverse sinuses #Thinning and bulging of occipital bone over the transverse sinuses #Thinning and bulging of posterior skull bones over the transverse sinuses\n", + " definition of HP:0000930 (Elevated imprint of the transverse sinuses)\n", + " \n", + " \n", + " Acrosomal hypoplasia\n", + " definition of HP:0034913 (Acrosomal hypoplasia)\n", + " \n", + " \n", + " Reduction in the size of the acrosome of the head of spermatozoa.\n", + " definition of HP:0034913 (Acrosomal hypoplasia)\n", + " \n", + " \n", + " Spastic dysarthria\n", + " definition of HP:0002464 (Spastic dysarthria)\n", + " \n", + " \n", + " A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality.\n", + " definition of HP:0002464 (Spastic dysarthria)\n", + " \n", + " \n", + " #Rigid dysarthria\n", + " definition of HP:0002464 (Spastic dysarthria)\n", + " \n", + " \n", + " Down-sloping shoulders\n", + " definition of HP:0200021 (Down-sloping shoulders)\n", + " \n", + " \n", + " Low set, steeply sloping shoulders.\n", + " definition of HP:0200021 (Down-sloping shoulders)\n", + " \n", + " \n", + " #Down-sloping shoulders #Rounded shoulders #Rounded, sloping shoulders #Sloping shoulders\n", + " definition of HP:0200021 (Down-sloping shoulders)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the cerebellum\n", + " definition of HP:0007360 (Aplasia/Hypoplasia of the cerebellum)\n", + " \n", + " \n", + " #Absent/small cerebellum #Absent/underdeveloped cerebellum #Atrophy/Degeneration affecting the cerebellum #Atrophy/Hypoplasia of the cerebellum #Cerebellar hypoplasia/atrophy\n", + " definition of HP:0007360 (Aplasia/Hypoplasia of the cerebellum)\n", + " \n", + " \n", + " Complete duplication of hallux phalanx\n", + " definition of HP:0010100 (Complete duplication of hallux phalanx)\n", + " \n", + " \n", + " Complete duplication of one or more phalanx of big toe.\n", + " definition of HP:0010100 (Complete duplication of hallux phalanx)\n", + " \n", + " \n", + " #Complete duplication of big toe bones #Complete duplication of the phalanges of the hallux\n", + " definition of HP:0010100 (Complete duplication of hallux phalanx)\n", + " \n", + " \n", + " Crystalluria\n", + " definition of HP:0020074 (Crystalluria)\n", + " \n", + " \n", + " The presence of crystals in the urine.\n", + " definition of HP:0020074 (Crystalluria)\n", + " \n", + " \n", + " Elevated bone scintigraphy uptake\n", + " definition of HP:6001022 (Elevated bone scintigraphy uptake)\n", + " \n", + " \n", + " Bone scintigraph is performed with technetium 99m-labeled diphosphonates. The uptake of these radiopharmaceuticals depicts osteoblastic activity and regional blood flow to bone.\n", + " definition of HP:6001022 (Elevated bone scintigraphy uptake)\n", + " \n", + " \n", + " #Bone scan (scintigraphy): abnormally increased uptake #Increase bone scan uptake\n", + " definition of HP:6001022 (Elevated bone scintigraphy uptake)\n", + " \n", + " \n", + " Abnormal placenta morphology\n", + " definition of HP:0100767 (Abnormal placenta morphology)\n", + " \n", + " \n", + " An abnormality of the placenta, the organ that connects the developing fetus to the uterine wall to enable nutrient uptake, waste elimination, and gas exchange.\n", + " definition of HP:0100767 (Abnormal placenta morphology)\n", + " \n", + " \n", + " #Abnormality of the placenta #Placental issue\n", + " definition of HP:0100767 (Abnormal placenta morphology)\n", + " \n", + " \n", + " Elevated CSF 4-hydroxybutyric acid concentration\n", + " definition of HP:0032532 (Elevated CSF 4-hydroxybutyric acid concentration)\n", + " \n", + " \n", + " Abnormally increased level of 4-hydroxybutyric acid in the cerebrospinal fluid (CSF).\n", + " definition of HP:0032532 (Elevated CSF 4-hydroxybutyric acid concentration)\n", + " \n", + " \n", + " #Elevated CSF gamma-hydroxybutyric acid #Elevated CSF GHB levels\n", + " definition of HP:0032532 (Elevated CSF 4-hydroxybutyric acid concentration)\n", + " \n", + " \n", + " Abnormal tricuspid chordae tendinae morphology\n", + " definition of HP:0031442 (Abnormal tricuspid chordae tendinae morphology)\n", + " \n", + " \n", + " Any structural anomaly of the chordae tendinae of the tricuspid valve. The chordae tendineae connect the papillary muscles to the tricuspid valve.\n", + " definition of HP:0031442 (Abnormal tricuspid chordae tendinae morphology)\n", + " \n", + " \n", + " Centrilobular ground-glass opacification on pulmonary HRCT\n", + " definition of HP:0025180 (Centrilobular ground-glass opacification on pulmonary HRCT)\n", + " \n", + " \n", + " A hazy area of increased attenuation in centrilobular areas of the lung with preserved bronchial and vascular markings seen on a computer tomography scan. Centrilobular refers to a location that is central within secondary pulmonary lobules.\n", + " definition of HP:0025180 (Centrilobular ground-glass opacification on pulmonary HRCT)\n", + " \n", + " \n", + " #Centrilobular groundglass opacification #Centrilobular groundglass opacity\n", + " definition of HP:0025180 (Centrilobular ground-glass opacification on pulmonary HRCT)\n", + " \n", + " \n", + " Squamous cell lung carcinoma\n", + " definition of HP:0030359 (Squamous cell lung carcinoma)\n", + " \n", + " \n", + " A type of non-small cell lung carcinoma that is derived from stratified squamous epithelial cells.\n", + " definition of HP:0030359 (Squamous cell lung carcinoma)\n", + " \n", + " \n", + " Abnormality of internal jugular vein\n", + " definition of HP:3000063 (Abnormality of internal jugular vein)\n", + " \n", + " \n", + " An abnormality of an internal jugular vein.\n", + " definition of HP:3000063 (Abnormality of internal jugular vein)\n", + " \n", + " \n", + " Hyperplasia of the Leydig cells\n", + " definition of HP:0010791 (Hyperplasia of the Leydig cells)\n", + " \n", + " \n", + " Hypertrophy or overdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone.\n", + " definition of HP:0010791 (Hyperplasia of the Leydig cells)\n", + " \n", + " \n", + " Abnormal urinary non-proteinogenic amino acid level\n", + " definition of HP:0034027 (Abnormal urinary non-proteinogenic amino acid level)\n", + " \n", + " \n", + " Any deviation from the normal amount in the urine of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids.\n", + " definition of HP:0034027 (Abnormal urinary non-proteinogenic amino acid level)\n", + " \n", + " \n", + " Abnormal cerebral subcortex morphology\n", + " definition of HP:0010993 (Abnormal cerebral subcortex morphology)\n", + " \n", + " \n", + " An abnormality of the cerebral subcortex.\n", + " definition of HP:0010993 (Abnormal cerebral subcortex morphology)\n", + " \n", + " \n", + " #Abnormality of the cerebral medulla #Abnormality of the cerebral subcortex\n", + " definition of HP:0010993 (Abnormal cerebral subcortex morphology)\n", + " \n", + " \n", + " Neoplasm of the gallbladder\n", + " definition of HP:0100575 (Neoplasm of the gallbladder)\n", + " \n", + " \n", + " The presence of a neoplasm of the gallbladder.\n", + " definition of HP:0100575 (Neoplasm of the gallbladder)\n", + " \n", + " \n", + " Pituitary resistance to thyroid hormone\n", + " definition of HP:0008227 (Pituitary resistance to thyroid hormone)\n", + " \n", + " \n", + " A condition in which the pituitary gland is partially resistant to thyroid hormone, so that it continues to secrete thyroid-stimulating hormone (TSH) until the blood level of thyroid hormone rises higher than normal.\n", + " definition of HP:0008227 (Pituitary resistance to thyroid hormone)\n", + " \n", + " \n", + " Intra-epidermal blistering\n", + " definition of HP:0033802 (Intra-epidermal blistering)\n", + " \n", + " \n", + " A type of blistering in which the lesions are located within the epidermis with loss of cell-cell adhesion of keratinocytes. In simplex EB, cleavage occurs in the basal layer, which is the innermost layer of the epidermis and consists of a single layer of basal germinative cells (mostly epidermal Keratinocytes) that proliferate and thereby produce new cells for other epidermal layers. As the cells move towards the upper layers of the epidermis they mature and eventually form cornified cells. The suprabasal cell layer lies directly above the basal layer and is composed of five to ten layers of cells.\n", + " definition of HP:0033802 (Intra-epidermal blistering)\n", + " \n", + " \n", + " Impaired arachidonic acid-induced platelet aggregation\n", + " definition of HP:0011870 (Impaired arachidonic acid-induced platelet aggregation)\n", + " \n", + " \n", + " Abnormal response to arachidonic acid as manifested by reduced or lacking aggregation of platelets upon addition of arachidonic acid.\n", + " definition of HP:0011870 (Impaired arachidonic acid-induced platelet aggregation)\n", + " \n", + " \n", + " Demyelinating sensory neuropathy\n", + " definition of HP:0011402 (Demyelinating sensory neuropathy)\n", + " \n", + " \n", + " Demyelination of peripheral sensory nerves.\n", + " definition of HP:0011402 (Demyelinating sensory neuropathy)\n", + " \n", + " \n", + " Increased vertebral height\n", + " definition of HP:0004570 (Increased vertebral height)\n", + " \n", + " \n", + " Increased top to bottom height of vertebral bodies.\n", + " definition of HP:0004570 (Increased vertebral height)\n", + " \n", + " \n", + " #Tall vertebral bodies\n", + " definition of HP:0004570 (Increased vertebral height)\n", + " \n", + " \n", + " Abnormal renal cortex morphology\n", + " definition of HP:0011035 (Abnormal renal cortex morphology)\n", + " \n", + " \n", + " An abnormality of the cortex of the kidney.\n", + " definition of HP:0011035 (Abnormal renal cortex morphology)\n", + " \n", + " \n", + " #Abnormality of renal cortex morphology\n", + " definition of HP:0011035 (Abnormal renal cortex morphology)\n", + " \n", + " \n", + " Reduced tissue arginine:glycine amidinotransferase activity\n", + " definition of HP:6000572 (Reduced tissue arginine:glycine amidinotransferase activity)\n", + " \n", + " \n", + " Activity of L-arginine:glycine amidinotransferase (GATM; EC 2.1.4.1) in the tissues below the lower limit of normal. GATM activity can be measured in multiple tissues including leukocytes and cultured fibroblasts.\n", + " definition of HP:6000572 (Reduced tissue arginine:glycine amidinotransferase activity)\n", + " \n", + " \n", + " Abnormal cranial ganglion morphology\n", + " definition of HP:0410016 (Abnormal cranial ganglion morphology)\n", + " \n", + " \n", + " An abnormality of nerve cell cluster or a group of nerve cell bodies located in the autonomic nervous system of the cranium.\n", + " definition of HP:0410016 (Abnormal cranial ganglion morphology)\n", + " \n", + " \n", + " #Abnormality of cranial ganglion\n", + " definition of HP:0410016 (Abnormal cranial ganglion morphology)\n", + " \n", + " \n", + " Neoplasm\n", + " definition of HP:0002664 (Neoplasm)\n", + " \n", + " \n", + " An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor).\n", + " definition of HP:0002664 (Neoplasm)\n", + " \n", + " \n", + " #Neoplasia #Oncological abnormality #Tumor #Tumour\n", + " definition of HP:0002664 (Neoplasm)\n", + " \n", + " \n", + " Acanthoma\n", + " definition of HP:0025432 (Acanthoma)\n", + " \n", + " \n", + " A benign epithelial skin tumor manifesting as a slightly elevated circular plaque or nodule with a red, pink or brown color and a diameter up to 22 mm.\n", + " definition of HP:0025432 (Acanthoma)\n", + " \n", + " \n", + " Hyperconvex toenail\n", + " definition of HP:0030055 (Hyperconvex toenail)\n", + " \n", + " \n", + " When viewed on end (with the tip of the toe pointing toward the examiner's eye) the curve of the toenail forms a tighter curve of convexity.\n", + " definition of HP:0030055 (Hyperconvex toenail)\n", + " \n", + " \n", + " Abnormal elbow metaphysis morphology\n", + " definition of HP:0003949 (Abnormal elbow metaphysis morphology)\n", + " \n", + " \n", + " #Abnormal wide portion of elbow bone\n", + " definition of HP:0003949 (Abnormal elbow metaphysis morphology)\n", + " \n", + " \n", + " Erythrocyte cylindruria\n", + " definition of HP:0012617 (Erythrocyte cylindruria)\n", + " \n", + " \n", + " Presence of erythrocyte casts (cylindrical structures produced by the kidney in certain disease states) in the urine.\n", + " definition of HP:0012617 (Erythrocyte cylindruria)\n", + " \n", + " \n", + " #Red blood cell casts #Urinary erythrocyte cast\n", + " definition of HP:0012617 (Erythrocyte cylindruria)\n", + " \n", + " \n", + " Abnormal platelet count\n", + " definition of HP:0011873 (Abnormal platelet count)\n", + " \n", + " \n", + " Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood.\n", + " definition of HP:0011873 (Abnormal platelet count)\n", + " \n", + " \n", + " Abnormal tracheobronchial morphology\n", + " definition of HP:0005607 (Abnormal tracheobronchial morphology)\n", + " \n", + " \n", + " #Tracheobronchial anomalies\n", + " definition of HP:0005607 (Abnormal tracheobronchial morphology)\n", + " \n", + " \n", + " Glucocortocoid-insensitive primary hyperaldosteronism\n", + " definition of HP:0011740 (Glucocortocoid-insensitive primary hyperaldosteronism)\n", + " \n", + " \n", + " A form of primary hyperaldosteronism in which the overproduction of aldosterone cannot be suppressed by the administration of dexamethasone or similar glucocorticoids.\n", + " definition of HP:0011740 (Glucocortocoid-insensitive primary hyperaldosteronism)\n", + " \n", + " \n", + " Absent epiphysis of the distal phalanx of the 3rd toe\n", + " definition of HP:0100135 (Absent epiphysis of the distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Absent end part of the outermost bone of the 3rd toe\n", + " definition of HP:0100135 (Absent epiphysis of the distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Prominent sternum\n", + " definition of HP:0000884 (Prominent sternum)\n", + " \n", + " \n", + " #Prominent sternum #Sternal protrusion\n", + " definition of HP:0000884 (Prominent sternum)\n", + " \n", + " \n", + " Bullet-shaped distal phalanx of the 5th finger\n", + " definition of HP:0009241 (Bullet-shaped distal phalanx of the 5th finger)\n", + " \n", + " \n", + " Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 5th finger is affected.\n", + " definition of HP:0009241 (Bullet-shaped distal phalanx of the 5th finger)\n", + " \n", + " \n", + " #Bullet-shaped outermost little finger bone #Bullet-shaped outermost pinkie finger bone #Bullet-shaped outermost pinky finger bone\n", + " definition of HP:0009241 (Bullet-shaped distal phalanx of the 5th finger)\n", + " \n", + " \n", + " Abnormality of temperature regulation\n", + " definition of HP:0004370 (Abnormality of temperature regulation)\n", + " \n", + " \n", + " An abnormality of temperature homeostasis.\n", + " definition of HP:0004370 (Abnormality of temperature regulation)\n", + " \n", + " \n", + " #Abnormality of temperature regulation #Impaired temperature control #Impaired temperature regulation #Inability to control temperature #Inability to regulate temperature #Poor control of temperature #Poor regulation of temperature #Poor temperature control #Poor temperature regulation #Unable to control temperature\n", + " definition of HP:0004370 (Abnormality of temperature regulation)\n", + " \n", + " \n", + " Shoulder adduction contracture\n", + " definition of HP:0035009 (Shoulder adduction contracture)\n", + " \n", + " \n", + " A type of shoulder contracture characterized by a chronic reduction in the active and passive ability to abduct the shoulder. This results in the shoulders being closer to midline. The affected individual is not able to position the shoulders away from the body.\n", + " definition of HP:0035009 (Shoulder adduction contracture)\n", + " \n", + " \n", + " #Adduction contracture of the shoulder\n", + " definition of HP:0035009 (Shoulder adduction contracture)\n", + " \n", + " \n", + " Retrocerebellar cyst\n", + " definition of HP:0006951 (Retrocerebellar cyst)\n", + " \n", + " \n", + " Vesicoallantoic abdominal wall defect\n", + " definition of HP:0030733 (Vesicoallantoic abdominal wall defect)\n", + " \n", + " \n", + " An abdominal wall defected related to a developmental anomaly of the allantois, which is an embryonic structure that develops as a diverticulum off the yolk sac at about 16 days post fertilization. During further development, the allantois becomes incorporated into the body of the embryo, connecting the ventral aspect of the urogenital sinus (which will develop into the upper pole of the urinary bladder) to the external portion of the umbilicus. Upon further development, the lumen of the allantois becomes obliterated and forms a thick fibrous cord called the urachus, which connects the apex of the bladder to the umbilicus. In adults, the urachus is known as the median umbilical ligament. Failure of the allantoic cavity to obliterate can result of one of four conditions: 1) congenital patent urachus (a completely open connection between bladder and umbilicus); 2) vesicourachal diverticulum (a diverticulum off the bladder but not communicating with the umbilicus); umbilical cyst and sinus (not communicating with the bladder); and 4) alternating urachal sinus. An abdominal wall defect can be associated with a urachal cyst.\n", + " definition of HP:0030733 (Vesicoallantoic abdominal wall defect)\n", + " \n", + " \n", + " Elevated urine acetoacetic acid level\n", + " definition of HP:0033407 (Elevated urine acetoacetic acid level)\n", + " \n", + " \n", + " Elevated amount of acetoacetic acid in the urine.\n", + " definition of HP:0033407 (Elevated urine acetoacetic acid level)\n", + " \n", + " \n", + " Right unicoronal synostosis\n", + " definition of HP:0011317 (Right unicoronal synostosis)\n", + " \n", + " \n", + " Unicoronal synostosis affecting only the right coronal suture.\n", + " definition of HP:0011317 (Right unicoronal synostosis)\n", + " \n", + " \n", + " Breath-holding spell\n", + " definition of HP:6000950 (Breath-holding spell)\n", + " \n", + " \n", + " A benign paroxysmal nonepileptic disorder occurring in healthy children 6 to 48 months of age. The episodes start with a provocation such as emotional upset or minor injury, and might progress to breath holding, cyanosis, and syncope.\n", + " definition of HP:6000950 (Breath-holding spell)\n", + " \n", + " \n", + " Shoulder muscle aplasia\n", + " definition of HP:0500023 (Shoulder muscle aplasia)\n", + " \n", + " \n", + " Absence of shoulder muscles.\n", + " definition of HP:0500023 (Shoulder muscle aplasia)\n", + " \n", + " \n", + " #Absent shoulder muscle\n", + " definition of HP:0500023 (Shoulder muscle aplasia)\n", + " \n", + " \n", + " Elevated circulating soluble CD25 concentration\n", + " definition of HP:0033833 (Elevated circulating soluble CD25 concentration)\n", + " \n", + " \n", + " Increased concentration of the interleukin-2 receptor alpha-chain (CD25) in the blood circulation. CD25 is shed upon immune activation. Increased levels of soluble CD25, therefore, are an indication of an on-going immune response.\n", + " definition of HP:0033833 (Elevated circulating soluble CD25 concentration)\n", + " \n", + " \n", + " #Elevated circulating interleukin-2 receptor alpha-chain\n", + " definition of HP:0033833 (Elevated circulating soluble CD25 concentration)\n", + " \n", + " \n", + " Short metacarpal\n", + " definition of HP:0010049 (Short metacarpal)\n", + " \n", + " \n", + " Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.\n", + " definition of HP:0010049 (Short metacarpal)\n", + " \n", + " \n", + " #Brachymetacarpalia #Hypoplastic metacarpal #Metacarpal hypoplasia #Short metacarpals #Shortened long bone of hand #Shortened long bones of hand #Shortened metacarpals #Shortening of metacarpals\n", + " definition of HP:0010049 (Short metacarpal)\n", + " \n", + " \n", + " Abnormal circulating vitamin E concentration\n", + " definition of HP:0100514 (Abnormal circulating vitamin E concentration)\n", + " \n", + " \n", + " Concentration of vitamin E in the blood circulation outside of normal limits.\n", + " definition of HP:0100514 (Abnormal circulating vitamin E concentration)\n", + " \n", + " \n", + " Abnormal CSF albumin concentration\n", + " definition of HP:0500238 (Abnormal CSF albumin concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of albumin in the cerebrospinal fluid.\n", + " definition of HP:0500238 (Abnormal CSF albumin concentration)\n", + " \n", + " \n", + " #Abnormal albumin levels in cerebrospinal fluid\n", + " definition of HP:0500238 (Abnormal CSF albumin concentration)\n", + " \n", + " \n", + " Double inlet right ventricle\n", + " definition of HP:0011556 (Double inlet right ventricle)\n", + " \n", + " \n", + " The condition in which both atria are joined to the right ventricle each by its own atrioventricular valve. Usually, the left ventricle is hypoplastic.\n", + " definition of HP:0011556 (Double inlet right ventricle)\n", + " \n", + " \n", + " Episodic hemiplegia\n", + " definition of HP:0012194 (Episodic hemiplegia)\n", + " \n", + " \n", + " Transient episodes of weakness of the arm, leg, and in some cases the face on one side of the body.\n", + " definition of HP:0012194 (Episodic hemiplegia)\n", + " \n", + " \n", + " Abnormal pineal volume\n", + " definition of HP:0012684 (Abnormal pineal volume)\n", + " \n", + " \n", + " An abnormal increase or decrease in the quantity of three-dimensional space taken up by the pineal gland.\n", + " definition of HP:0012684 (Abnormal pineal volume)\n", + " \n", + " \n", + " Acute tubulointerstitial nephritis\n", + " definition of HP:0004729 (Acute tubulointerstitial nephritis)\n", + " \n", + " \n", + " Acute inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.\n", + " definition of HP:0004729 (Acute tubulointerstitial nephritis)\n", + " \n", + " \n", + " Generalized myoclonic-tonic-clonic seizure\n", + " definition of HP:0032795 (Generalized myoclonic-tonic-clonic seizure)\n", + " \n", + " \n", + " A generalized myoclonic-tonic-clonic seizure is a type of generalized motor seizure characterized by a single or multiple jerks of limbs bilaterally, followed by tonic and clonic phases. The initial jerks can be considered to be either a brief period of clonus or myoclonus.\n", + " definition of HP:0032795 (Generalized myoclonic-tonic-clonic seizure)\n", + " \n", + " \n", + " #Generalised myoclonic-tonic-clonic seizure #Generalised onset myoclonic-tonic-clonic seizure #generalised onset myoclonic-tonic-clonic seizure #Generalised-onset myoclonic-tonic-clonic seizure #generalized onset myoclonic-tonic-clonic seizure #Generalized-onset myoclonic-tonic-clonic seizure\n", + " definition of HP:0032795 (Generalized myoclonic-tonic-clonic seizure)\n", + " \n", + " \n", + " Abnormal prothrombin time\n", + " definition of HP:0032199 (Abnormal prothrombin time)\n", + " \n", + " \n", + " Any deviation from the normal amount of time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT.\n", + " definition of HP:0032199 (Abnormal prothrombin time)\n", + " \n", + " \n", + " #Abnormal PT\n", + " definition of HP:0032199 (Abnormal prothrombin time)\n", + " \n", + " \n", + " Mosaic attenuation pattern in lung\n", + " definition of HP:6000317 (Mosaic attenuation pattern in lung)\n", + " \n", + " \n", + " Mosaic attenuation pattern in the lung is a term used to describe regions of differing pulmonary attenuation on CT imaging. It is a non-specific finding, although is associated with several conditions such as obstructive small airway disease, occlusive vascular disease (in which case is called mosaic perfusion pattern), pulmonary edema, and parenchymal diseases.\n", + " definition of HP:6000317 (Mosaic attenuation pattern in lung)\n", + " \n", + " \n", + " Abnormal toe epiphysis morphology\n", + " definition of HP:0010160 (Abnormal toe epiphysis morphology)\n", + " \n", + " \n", + " #Abnormality of the end part of the toe bones #Abnormality of the epiphyses of the toes\n", + " definition of HP:0010160 (Abnormal toe epiphysis morphology)\n", + " \n", + " \n", + " Renal arteriole intima/media necrosis\n", + " definition of HP:0033938 (Renal arteriole intima/media necrosis)\n", + " \n", + " \n", + " Cell death (necrosis) in the inner or middle layer of the arterioles of the kidney.\n", + " definition of HP:0033938 (Renal arteriole intima/media necrosis)\n", + " \n", + " \n", + " Abnormal dense tubular system\n", + " definition of HP:0012491 (Abnormal dense tubular system)\n", + " \n", + " \n", + " An anomaly of the intracellular membrane complexes known as the dense tubular system.\n", + " definition of HP:0012491 (Abnormal dense tubular system)\n", + " \n", + " \n", + " Aniridia\n", + " definition of HP:0000526 (Aniridia)\n", + " \n", + " \n", + " Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris.\n", + " definition of HP:0000526 (Aniridia)\n", + " \n", + " \n", + " #Absent iris\n", + " definition of HP:0000526 (Aniridia)\n", + " \n", + " \n", + " Myocardial necrosis\n", + " definition of HP:0001700 (Myocardial necrosis)\n", + " \n", + " \n", + " Irreversible damage to heart tissue (myocardium) due to lack of oxygen after a heart attack (myocardial infarction).\n", + " definition of HP:0001700 (Myocardial necrosis)\n", + " \n", + " \n", + " Fractured lumbar vertebra\n", + " definition of HP:0041168 (Fractured lumbar vertebra)\n", + " \n", + " \n", + " A partial or complete breakage of the lumbar vertebra.\n", + " definition of HP:0041168 (Fractured lumbar vertebra)\n", + " \n", + " \n", + " #bone lumbar vertebra\n", + " definition of HP:0041168 (Fractured lumbar vertebra)\n", + " \n", + " \n", + " High-pitched bowel sounds\n", + " definition of HP:6000633 (High-pitched bowel sounds)\n", + " \n", + " \n", + " Abnormal bowel sounds of an unually high frequency.\n", + " definition of HP:6000633 (High-pitched bowel sounds)\n", + " \n", + " \n", + " Black pigment gallstones\n", + " definition of HP:0011982 (Black pigment gallstones)\n", + " \n", + " \n", + " A type of pigment gallstone that is hard and black, containing calcium carbonate and calcium phosphates.\n", + " definition of HP:0011982 (Black pigment gallstones)\n", + " \n", + " \n", + " Nasal secretion eosinophilia\n", + " definition of HP:0430119 (Nasal secretion eosinophilia)\n", + " \n", + " \n", + " Count of eosinophils in nasal secretions (for instance, nasal discharge) above the upper limit of normal.\n", + " definition of HP:0430119 (Nasal secretion eosinophilia)\n", + " \n", + " \n", + " #Eosinophils predominate in nasal discharge\n", + " definition of HP:0430119 (Nasal secretion eosinophilia)\n", + " \n", + " \n", + " Air bronchogram\n", + " definition of HP:0033662 (Air bronchogram)\n", + " \n", + " \n", + " An air bronchogram is a pattern of air-filled (low-attenuation) bronchi on a background of opaque (high-attenuation) airless lung. The sign implies (a) patency of proximal airways and (b) evacuation of alveolar air by means of absorption (atelectasis) or replacement (eg, pneumonia) or a combination of these processes. In rare cases, the displacement of air is the result of marked interstitial expansion (eg, lymphoma).\n", + " definition of HP:0033662 (Air bronchogram)\n", + " \n", + " \n", + " Periorbital dermoid cyst\n", + " definition of HP:0030668 (Periorbital dermoid cyst)\n", + " \n", + " \n", + " A cyst that is localized in the region of the orbit and exhibits an epithelial lining with a keratin-filled lumen. Hair follicles are one of the adnexal structures that are commonly found in walls of dermoid cysts.\n", + " definition of HP:0030668 (Periorbital dermoid cyst)\n", + " \n", + " \n", + " Paradoxical embolism\n", + " definition of HP:0033520 (Paradoxical embolism)\n", + " \n", + " \n", + " Paradoxical embolism describes the passage of a venous or right-sided cardiac thrombus into the arterial or systemic circulation.\n", + " definition of HP:0033520 (Paradoxical embolism)\n", + " \n", + " \n", + " Inactivating thyroid-stimulating hormone receptor defect\n", + " definition of HP:0011791 (Inactivating thyroid-stimulating hormone receptor defect)\n", + " \n", + " \n", + " Loss-of-function thyroid-stimulating hormone receptor (TSHR) defect.\n", + " definition of HP:0011791 (Inactivating thyroid-stimulating hormone receptor defect)\n", + " \n", + " \n", + " #Inactivating TSHR defect\n", + " definition of HP:0011791 (Inactivating thyroid-stimulating hormone receptor defect)\n", + " \n", + " \n", + " Impaired visuospatial constructive cognition\n", + " definition of HP:0010794 (Impaired visuospatial constructive cognition)\n", + " \n", + " \n", + " Reduced ability affecting mainly visuospatial cognition which may be tested using pattern construction (for example by Differential Ability Scales, which test a person's strengths and weaknesses across a range of intellectual abilities).\n", + " definition of HP:0010794 (Impaired visuospatial constructive cognition)\n", + " \n", + " \n", + " Abnormal pulse\n", + " definition of HP:0032552 (Abnormal pulse)\n", + " \n", + " \n", + " An anomaly of the rhythmic throbbing of an artery that reflects the widening of the artery as blood flows through it and is caused by successive contractions of the heart.\n", + " definition of HP:0032552 (Abnormal pulse)\n", + " \n", + " \n", + " Setting-sun eye phenomenon\n", + " definition of HP:0012470 (Setting-sun eye phenomenon)\n", + " \n", + " \n", + " An ophthalmologic sign in young children resulting from upward-gaze paresis. In this condition, the eyes appear driven downward, the sclera may be seen between the upper eyelid and the iris, and part of the lower pupil may be covered by the lower eyelid.\n", + " definition of HP:0012470 (Setting-sun eye phenomenon)\n", + " \n", + " \n", + " #Setting-sun eye phenomenon #Sun setting eyes #Sunsetting eye\n", + " definition of HP:0012470 (Setting-sun eye phenomenon)\n", + " \n", + " \n", + " Paraspinal neurofibroma\n", + " definition of HP:0006751 (Paraspinal neurofibroma)\n", + " \n", + " \n", + " A neurofibroma (benign peripheral nerve sheath tumor) localized adjacent to the spine.\n", + " definition of HP:0006751 (Paraspinal neurofibroma)\n", + " \n", + " \n", + " #Paraspinal neurofibromas\n", + " definition of HP:0006751 (Paraspinal neurofibroma)\n", + " \n", + " \n", + " Bifid distal phalanx of the thumb\n", + " definition of HP:0009611 (Bifid distal phalanx of the thumb)\n", + " \n", + " \n", + " Partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones.\n", + " definition of HP:0009611 (Bifid distal phalanx of the thumb)\n", + " \n", + " \n", + " #Bifid distal phalanx of thumb #Bifid terminal phalanges of thumbs #Bifid thumb distal phalanx #Incipient distal thumb phalanx duplication #Notched outermost bone of the thumb #Notched outermost bone of thumb #Notched terminal thumb phalanx\n", + " definition of HP:0009611 (Bifid distal phalanx of the thumb)\n", + " \n", + " \n", + " Concentric hypertrophic cardiomyopathy\n", + " definition of HP:0005157 (Concentric hypertrophic cardiomyopathy)\n", + " \n", + " \n", + " Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy.\n", + " definition of HP:0005157 (Concentric hypertrophic cardiomyopathy)\n", + " \n", + " \n", + " #Symmetric, concentric, hypertrophic cardiomyopathy\n", + " definition of HP:0005157 (Concentric hypertrophic cardiomyopathy)\n", + " \n", + " \n", + " Renal potassium wasting\n", + " definition of HP:0000128 (Renal potassium wasting)\n", + " \n", + " \n", + " High urine potassium in the presence of hypokalemia.\n", + " definition of HP:0000128 (Renal potassium wasting)\n", + " \n", + " \n", + " #Renal K wasting\n", + " definition of HP:0000128 (Renal potassium wasting)\n", + " \n", + " \n", + " Neonatal wrinkled skin of hands and feet\n", + " definition of HP:0007414 (Neonatal wrinkled skin of hands and feet)\n", + " \n", + " \n", + " #Wrinkled skin of hands and feet in newborn\n", + " definition of HP:0007414 (Neonatal wrinkled skin of hands and feet)\n", + " \n", + " \n", + " Anti-citrullinated protein antibody positivity\n", + " definition of HP:0033034 (Anti-citrullinated protein antibody positivity)\n", + " \n", + " \n", + " The presence autoantibodies in the serum that react do different citrullinated antigens, including filaggrin, fibrinogen, vimentin and collagen.\n", + " definition of HP:0033034 (Anti-citrullinated protein antibody positivity)\n", + " \n", + " \n", + " Peripheral hypomyelination\n", + " definition of HP:0007182 (Peripheral hypomyelination)\n", + " \n", + " \n", + " Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the peripheral nervous system.\n", + " definition of HP:0007182 (Peripheral hypomyelination)\n", + " \n", + " \n", + " Psychotic mentation\n", + " definition of HP:0001345 (Psychotic mentation)\n", + " \n", + " \n", + " A pattern of thinking and perceiving characterized by a loss of contact with reality, leading to significant changes in thoughts, perceptions, and behaviors.\n", + " definition of HP:0001345 (Psychotic mentation)\n", + " \n", + " \n", + " Stippling of the epiphysis of the middle phalanx of the 2nd toe\n", + " definition of HP:0100120 (Stippling of the epiphysis of the middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 2nd toe.\n", + " definition of HP:0100120 (Stippling of the epiphysis of the middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Speckled calcifications in of the end part of the middle bone of the 2nd toe\n", + " definition of HP:0100120 (Stippling of the epiphysis of the middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " Bruising susceptibility\n", + " definition of HP:0000978 (Bruising susceptibility)\n", + " \n", + " \n", + " An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.\n", + " definition of HP:0000978 (Bruising susceptibility)\n", + " \n", + " \n", + " #Bruisability #Bruise easily #Bruising susceptibility #Easy bruisability #Easy bruising\n", + " definition of HP:0000978 (Bruising susceptibility)\n", + " \n", + " \n", + " Joint extensor surface localization\n", + " definition of HP:0032539 (Joint extensor surface localization)\n", + " \n", + " \n", + " Applies to an abnormality that is situated in extensor surface of the joint. The extensor surface refers to the skin on the opposite side of a joint.\n", + " definition of HP:0032539 (Joint extensor surface localization)\n", + " \n", + " \n", + " Raynaud phenomenon\n", + " definition of HP:0030880 (Raynaud phenomenon)\n", + " \n", + " \n", + " #Raynaud's phenomenon\n", + " definition of HP:0030880 (Raynaud phenomenon)\n", + " \n", + " \n", + " Thinning of Descemet membrane\n", + " definition of HP:0031159 (Thinning of Descemet membrane)\n", + " \n", + " \n", + " A reduction in the thickness of Descemet's membrane.\n", + " definition of HP:0031159 (Thinning of Descemet membrane)\n", + " \n", + " \n", + " Abnormal blood phosphate concentration\n", + " definition of HP:0100529 (Abnormal blood phosphate concentration)\n", + " \n", + " \n", + " An abnormality of phosphate homeostasis or concentration in the body.\n", + " definition of HP:0100529 (Abnormal blood phosphate concentration)\n", + " \n", + " \n", + " #Abnormality of phosphate homeostasis\n", + " definition of HP:0100529 (Abnormal blood phosphate concentration)\n", + " \n", + " \n", + " Wolff-Parkinson-White syndrome\n", + " definition of HP:0001716 (Wolff-Parkinson-White syndrome)\n", + " \n", + " \n", + " A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway.\n", + " definition of HP:0001716 (Wolff-Parkinson-White syndrome)\n", + " \n", + " \n", + " Neoplasm of the small intestine\n", + " definition of HP:0100833 (Neoplasm of the small intestine)\n", + " \n", + " \n", + " The presence of a neoplasm of the small intestine.\n", + " definition of HP:0100833 (Neoplasm of the small intestine)\n", + " \n", + " \n", + " #Small intestine tumor #Small intestine tumour\n", + " definition of HP:0100833 (Neoplasm of the small intestine)\n", + " \n", + " \n", + " Pelvic kidney\n", + " definition of HP:0000125 (Pelvic kidney)\n", + " \n", + " \n", + " A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis.\n", + " definition of HP:0000125 (Pelvic kidney)\n", + " \n", + " \n", + " #Sacral kidney\n", + " definition of HP:0000125 (Pelvic kidney)\n", + " \n", + " \n", + " Foveal retinal pigment epithelial loss on macular OCT\n", + " definition of HP:0030616 (Foveal retinal pigment epithelial loss on macular OCT)\n", + " \n", + " \n", + " Right aortic arch with retroesophageal diverticulum of Kommerell\n", + " definition of HP:0011594 (Right aortic arch with retroesophageal diverticulum of Kommerell)\n", + " \n", + " \n", + " Aortic arch crosses the right mainstem bronchus. The left carotid artery is the first branch, right carotid artery the second branch and right subclavian artery as the third branch.\n", + " definition of HP:0011594 (Right aortic arch with retroesophageal diverticulum of Kommerell)\n", + " \n", + " \n", + " Underdeveloped antitragus\n", + " definition of HP:0011251 (Underdeveloped antitragus)\n", + " \n", + " \n", + " Reduction in the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix.\n", + " definition of HP:0011251 (Underdeveloped antitragus)\n", + " \n", + " \n", + " #Hypoplastic antitragus #Hypotrophic antitragus #Small antitragus\n", + " definition of HP:0011251 (Underdeveloped antitragus)\n", + " \n", + " \n", + " Cerebral venous sinus thrombosis\n", + " definition of HP:0033724 (Cerebral venous sinus thrombosis)\n", + " \n", + " \n", + " An intracranial thrombosis of the venous sinuses. These typically present with headache, seizures or venous stroke secondary to raised cerebral venous pressure. Cerebral venous sinus thromboses usually affect larger areas of brain parenchyma than those affected by cerebral vein thromboses.\n", + " definition of HP:0033724 (Cerebral venous sinus thrombosis)\n", + " \n", + " \n", + " Abnormal hand diaphysis morphology\n", + " definition of HP:0005925 (Abnormal hand diaphysis morphology)\n", + " \n", + " \n", + " #Abnormalities of shaft of long bone of the hand #Abnormalities of the diaphyses of the hand\n", + " definition of HP:0005925 (Abnormal hand diaphysis morphology)\n", + " \n", + " \n", + " Abnormal horizontal rectus muscle physiology\n", + " definition of HP:0031740 (Abnormal horizontal rectus muscle physiology)\n", + " \n", + " \n", + " A functional anomaly of the medial rectus muscle or lateral rectus muscle.\n", + " definition of HP:0031740 (Abnormal horizontal rectus muscle physiology)\n", + " \n", + " \n", + " Glaucomatous visual field defect\n", + " definition of HP:0007854 (Glaucomatous visual field defect)\n", + " \n", + " \n", + " Ulnar bowing\n", + " definition of HP:0003031 (Ulnar bowing)\n", + " \n", + " \n", + " Bending of the diaphysis (shaft) of the ulna.\n", + " definition of HP:0003031 (Ulnar bowing)\n", + " \n", + " \n", + " #Bowed ulna #Curved ulna #Curving of inner forearm bone\n", + " definition of HP:0003031 (Ulnar bowing)\n", + " \n", + " \n", + " Infra-orbital crease\n", + " definition of HP:0100876 (Infra-orbital crease)\n", + " \n", + " \n", + " Skin crease extending from below the inner canthus laterally along the malar process of the maxilla and zygoma.\n", + " definition of HP:0100876 (Infra-orbital crease)\n", + " \n", + " \n", + " #Crease in skin under the eye #Groove in skin under the eye #Infraorbital crease #Infraorbital creases #Underorbital skin creases\n", + " definition of HP:0100876 (Infra-orbital crease)\n", + " \n", + " \n", + " Subcutaneous nodule\n", + " definition of HP:0001482 (Subcutaneous nodule)\n", + " \n", + " \n", + " Slightly elevated lesions on or in the skin with a diameter of over 5 mm.\n", + " definition of HP:0001482 (Subcutaneous nodule)\n", + " \n", + " \n", + " #Firm lump under the skin #Growth of abnormal tissue under the skin\n", + " definition of HP:0001482 (Subcutaneous nodule)\n", + " \n", + " \n", + " Widely-spaced incisors\n", + " definition of HP:0006304 (Widely-spaced incisors)\n", + " \n", + " \n", + " #Anterior diastema of teeth #Gap between front teeth #Widely spaced front teeth\n", + " definition of HP:0006304 (Widely-spaced incisors)\n", + " \n", + " \n", + " Impaired renal tubular reabsorption of low molecular weight protein\n", + " definition of HP:0034356 (Impaired renal tubular reabsorption of low molecular weight protein)\n", + " \n", + " \n", + " Increased loss of low-molecular weight proteins by the kidneys, measured in terms of the fractional excretion (FE). The FE of low-molecular-weight proteins such as beta2-microglobulin can be measured in terms of plasma and urine concentrations, since urinary low-molecular-weight protein concentrations can vary with water reabsorption.\n", + " definition of HP:0034356 (Impaired renal tubular reabsorption of low molecular weight protein)\n", + " \n", + " \n", + " #Increased low molecular weight protein excretion\n", + " definition of HP:0034356 (Impaired renal tubular reabsorption of low molecular weight protein)\n", + " \n", + " \n", + " Abnormal size of the clitoris\n", + " definition of HP:0040252 (Abnormal size of the clitoris)\n", + " \n", + " \n", + " Kyphosis\n", + " definition of HP:0002808 (Kyphosis)\n", + " \n", + " \n", + " Exaggerated anterior convexity of the thoracic vertebral column.\n", + " definition of HP:0002808 (Kyphosis)\n", + " \n", + " \n", + " #Gibbus deformity #Hunched back #Hyperkyphosis #Round back\n", + " definition of HP:0002808 (Kyphosis)\n", + " \n", + " \n", + " Abnormal ventricular myocardium morphology\n", + " definition of HP:0031316 (Abnormal ventricular myocardium morphology)\n", + " \n", + " \n", + " A structural anomaly of the muscle layer of the heart wall of a cardiac ventricle.\n", + " definition of HP:0031316 (Abnormal ventricular myocardium morphology)\n", + " \n", + " \n", + " Hyperopic astigmatism\n", + " definition of HP:0000484 (Hyperopic astigmatism)\n", + " \n", + " \n", + " A form of astigmatism in which one meridian is hyperopic while the one at a right angle to it has no refractive error.\n", + " definition of HP:0000484 (Hyperopic astigmatism)\n", + " \n", + " \n", + " Synophrys\n", + " definition of HP:0000664 (Synophrys)\n", + " \n", + " \n", + " Meeting of the medial eyebrows in the midline.\n", + " definition of HP:0000664 (Synophrys)\n", + " \n", + " \n", + " #Monobrow #Synophris #Unibrow\n", + " definition of HP:0000664 (Synophrys)\n", + " \n", + " \n", + " Lower limb pain\n", + " definition of HP:0012514 (Lower limb pain)\n", + " \n", + " \n", + " An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg.\n", + " definition of HP:0012514 (Lower limb pain)\n", + " \n", + " \n", + " #Leg pain #Lower limb pain\n", + " definition of HP:0012514 (Lower limb pain)\n", + " \n", + " \n", + " Gingival fibromatosis\n", + " definition of HP:0000169 (Gingival fibromatosis)\n", + " \n", + " \n", + " The presence of fibrosis of the gingiva.\n", + " definition of HP:0000169 (Gingival fibromatosis)\n", + " \n", + " \n", + " #Gingival fibroma #Gingival fibrous nodules\n", + " definition of HP:0000169 (Gingival fibromatosis)\n", + " \n", + " \n", + " Abnormal lymph node mantle zone morphology\n", + " definition of HP:0020251 (Abnormal lymph node mantle zone morphology)\n", + " \n", + " \n", + " Elevated cancer Ag 19-9 level\n", + " definition of HP:0032345 (Elevated cancer Ag 19-9 level)\n", + " \n", + " \n", + " An abnormal increased in the amount of the carbohydrate antigen 19-9, a recognizable sialo-ganglioside in the blood circulation.\n", + " definition of HP:0032345 (Elevated cancer Ag 19-9 level)\n", + " \n", + " \n", + " Lafora bodies\n", + " definition of HP:0100318 (Lafora bodies)\n", + " \n", + " \n", + " An intraneuronal inclusion body composed of acid mucopolysaccharides.\n", + " definition of HP:0100318 (Lafora bodies)\n", + " \n", + " \n", + " EEG with parietal sharp waves\n", + " definition of HP:0011295 (EEG with parietal sharp waves)\n", + " \n", + " \n", + " EEG with sharp waves in the parietal region, i.e., sharp transient waves of a duration between 80 and 200 msec.\n", + " definition of HP:0011295 (EEG with parietal sharp waves)\n", + " \n", + " \n", + " Focal hemifacial clonic seizure\n", + " definition of HP:0007332 (Focal hemifacial clonic seizure)\n", + " \n", + " \n", + " Focal seizure characterized at onset by clonic movements affecting half of the face.\n", + " definition of HP:0007332 (Focal hemifacial clonic seizure)\n", + " \n", + " \n", + " #Hemifacial seizures\n", + " definition of HP:0007332 (Focal hemifacial clonic seizure)\n", + " \n", + " \n", + " Chronic (near) absent circulating IgG4\n", + " definition of HP:0041059 (Chronic (near) absent circulating IgG4)\n", + " \n", + " \n", + " A lasting absence of immunoglobulin G4 (IgG4) in the blood, whereby at most trace quantities of IgG4 can be measured.\n", + " definition of HP:0041059 (Chronic (near) absent circulating IgG4)\n", + " \n", + " \n", + " #Chronic (near) absent IgG4 in blood\n", + " definition of HP:0041059 (Chronic (near) absent circulating IgG4)\n", + " \n", + " \n", + " Clinodactyly of the 5th toe\n", + " definition of HP:0001864 (Clinodactyly of the 5th toe)\n", + " \n", + " \n", + " Bending or curvature of a fifth toe in the tibial direction (i.e., towards the big toe).\n", + " definition of HP:0001864 (Clinodactyly of the 5th toe)\n", + " \n", + " \n", + " Recurrent enteroviral infections\n", + " definition of HP:0002743 (Recurrent enteroviral infections)\n", + " \n", + " \n", + " Increased susceptibility to enteroviral infections, as manifested by recurrent episodes of enteroviral infection.\n", + " definition of HP:0002743 (Recurrent enteroviral infections)\n", + " \n", + " \n", + " Fragmentation of the epiphysis of the proximal phalanx of the thumb\n", + " definition of HP:0009668 (Fragmentation of the epiphysis of the proximal phalanx of the thumb)\n", + " \n", + " \n", + " Epiphysis of the proximal phalanx of the thumb having multiple bony fragments.\n", + " definition of HP:0009668 (Fragmentation of the epiphysis of the proximal phalanx of the thumb)\n", + " \n", + " \n", + " #Fragmentation of end part of thumb innermost long bone\n", + " definition of HP:0009668 (Fragmentation of the epiphysis of the proximal phalanx of the thumb)\n", + " \n", + " \n", + " Cone-shaped epiphyses of the 4th finger\n", + " definition of HP:0009395 (Cone-shaped epiphyses of the 4th finger)\n", + " \n", + " \n", + " A cone-shaped appearance of the epiphyses of the 4th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.\n", + " definition of HP:0009395 (Cone-shaped epiphyses of the 4th finger)\n", + " \n", + " \n", + " #Cone-shaped end part of the ring finger bones\n", + " definition of HP:0009395 (Cone-shaped epiphyses of the 4th finger)\n", + " \n", + " \n", + " Abnormal calvaria morphology\n", + " definition of HP:0002683 (Abnormal calvaria morphology)\n", + " \n", + " \n", + " Abnormality of the morphology (structure) of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain.\n", + " definition of HP:0002683 (Abnormal calvaria morphology)\n", + " \n", + " \n", + " #Abnormality of calvarium #Abnormality of cranial vault #Abnormality of the calvaria #Abnormality of the shape of calvarium #Abnormality of the skull cap #Abnormality of the skullcap\n", + " definition of HP:0002683 (Abnormal calvaria morphology)\n", + " \n", + " \n", + " Osteolytic defects of the middle phalanx of the 2nd toe\n", + " definition of HP:0010408 (Osteolytic defects of the middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " Abnormal blood carbon dioxide level\n", + " definition of HP:0500164 (Abnormal blood carbon dioxide level)\n", + " \n", + " \n", + " An abnormality of carbon dioxide (CO2) in the arterial blood.\n", + " definition of HP:0500164 (Abnormal blood carbon dioxide level)\n", + " \n", + " \n", + " #Abnormal blood carbon dioxide level #Abnormal CO2 levels in blood\n", + " definition of HP:0500164 (Abnormal blood carbon dioxide level)\n", + " \n", + " \n", + " Anti-La/SS-B antibody positivity\n", + " definition of HP:0032235 (Anti-La/SS-B antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies in the blood circulation that react against La/SSB autoantigens.\n", + " definition of HP:0032235 (Anti-La/SS-B antibody positivity)\n", + " \n", + " \n", + " EEG with occipital sharp slow waves\n", + " definition of HP:0011287 (EEG with occipital sharp slow waves)\n", + " \n", + " \n", + " EEG with sharp slow waves in the occipital region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.\n", + " definition of HP:0011287 (EEG with occipital sharp slow waves)\n", + " \n", + " \n", + " Elevated urine erythritol level\n", + " definition of HP:0034613 (Elevated urine erythritol level)\n", + " \n", + " \n", + " Amount of erythritol in the urine above the upper limit of normal.\n", + " definition of HP:0034613 (Elevated urine erythritol level)\n", + " \n", + " \n", + " #Erythritol high in urine\n", + " definition of HP:0034613 (Elevated urine erythritol level)\n", + " \n", + " \n", + " Asymmetry of intraocular pressure\n", + " definition of HP:0012633 (Asymmetry of intraocular pressure)\n", + " \n", + " \n", + " A difference in the amount of intraocular pressure in the right and left eye.\n", + " definition of HP:0012633 (Asymmetry of intraocular pressure)\n", + " \n", + " \n", + " Osteolytic defects of the proximal phalanx of the 2nd toe\n", + " definition of HP:0010399 (Osteolytic defects of the proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Slender finger\n", + " definition of HP:0001238 (Slender finger)\n", + " \n", + " \n", + " Fingers that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual.\n", + " definition of HP:0001238 (Slender finger)\n", + " \n", + " \n", + " #Narrow fingers #Slender finger #Slender fingers #thin fingers\n", + " definition of HP:0001238 (Slender finger)\n", + " \n", + " \n", + " Foveal subretinal hyporeflective spaces on macular OCT\n", + " definition of HP:0030628 (Foveal subretinal hyporeflective spaces on macular OCT)\n", + " \n", + " \n", + " Mesiodens\n", + " definition of HP:0011067 (Mesiodens)\n", + " \n", + " \n", + " A supernumerary tooth in the midline between the maxillary central incisors.\n", + " definition of HP:0011067 (Mesiodens)\n", + " \n", + " \n", + " #Median supernumary tooth #Midline supernumary tooth\n", + " definition of HP:0011067 (Mesiodens)\n", + " \n", + " \n", + " Femoral spur\n", + " definition of HP:0031171 (Femoral spur)\n", + " \n", + " \n", + " A bony projection (spur, osteophyte) originating from the femur, often in the medial femoral neck.\n", + " definition of HP:0031171 (Femoral spur)\n", + " \n", + " \n", + " #Spurring of femur\n", + " definition of HP:0031171 (Femoral spur)\n", + " \n", + " \n", + " Focal aware cognitive seizure with receptive dysphasia/aphasia\n", + " definition of HP:0032710 (Focal aware cognitive seizure with receptive dysphasia/aphasia)\n", + " \n", + " \n", + " A focal cognitive seizure with receptive dysphasia / aphasia characterized by retained awareness throughout the seizure.\n", + " definition of HP:0032710 (Focal aware cognitive seizure with receptive dysphasia/aphasia)\n", + " \n", + " \n", + " Abnormal auditory canal morphology\n", + " definition of HP:0000372 (Abnormal auditory canal morphology)\n", + " \n", + " \n", + " Any structural abnormality of the external acoustic tube (also known as the auditory canal).\n", + " definition of HP:0000372 (Abnormal auditory canal morphology)\n", + " \n", + " \n", + " #Abnormality of the auditory canal #Auditory canal abnormality\n", + " definition of HP:0000372 (Abnormal auditory canal morphology)\n", + " \n", + " \n", + " Fetal narcotic exposure\n", + " definition of HP:0034758 (Fetal narcotic exposure)\n", + " \n", + " \n", + " A history of exposure during pregnancy of the mother of a fetus or child to narcotic medications such as morphine or codeine. Narcotics are used medically to treat moderate or severe pain.\n", + " definition of HP:0034758 (Fetal narcotic exposure)\n", + " \n", + " \n", + " #Maternal narcotic exposure\n", + " definition of HP:0034758 (Fetal narcotic exposure)\n", + " \n", + " \n", + " Cone-shaped epiphysis of the proximal phalanx of the 2nd finger\n", + " definition of HP:0009526 (Cone-shaped epiphysis of the proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Cone-shaped end part of innermost long bone of index finger #Cone-shaped epiphysis of proximal index finger phalanx\n", + " definition of HP:0009526 (Cone-shaped epiphysis of the proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Clinodactyly of the 3rd finger\n", + " definition of HP:0040024 (Clinodactyly of the 3rd finger)\n", + " \n", + " \n", + " Dysplastic granulopoesis\n", + " definition of HP:0012136 (Dysplastic granulopoesis)\n", + " \n", + " \n", + " Paroxysmal vertigo\n", + " definition of HP:0010532 (Paroxysmal vertigo)\n", + " \n", + " \n", + " Paroxysmal episodes of vertigo.\n", + " definition of HP:0010532 (Paroxysmal vertigo)\n", + " \n", + " \n", + " Depersonalization\n", + " definition of HP:5200217 (Depersonalization)\n", + " \n", + " \n", + " A psychological experience or symptom characterized by a sense of detachment or estrangement from oneself or one's surroundings.\n", + " definition of HP:5200217 (Depersonalization)\n", + " \n", + " \n", + " Abnormality of the upper limb\n", + " definition of HP:0002817 (Abnormality of the upper limb)\n", + " \n", + " \n", + " An abnormality of the arm.\n", + " definition of HP:0002817 (Abnormality of the upper limb)\n", + " \n", + " \n", + " #Abnormality of the arm #Abnormality of the upper limb\n", + " definition of HP:0002817 (Abnormality of the upper limb)\n", + " \n", + " \n", + " Single fiber EMG abnormality\n", + " definition of HP:0030006 (Single fiber EMG abnormality)\n", + " \n", + " \n", + " Abnormality in single fiber EMG recording, a technique that allows identification of action potentials (APs) from individual muscle fibers.\n", + " definition of HP:0030006 (Single fiber EMG abnormality)\n", + " \n", + " \n", + " #Single fibre EMG abnormality\n", + " definition of HP:0030006 (Single fiber EMG abnormality)\n", + " \n", + " \n", + " Fibrous tissue neoplasm\n", + " definition of HP:0012316 (Fibrous tissue neoplasm)\n", + " \n", + " \n", + " Any neoplasm composed of fibrous tissue.\n", + " definition of HP:0012316 (Fibrous tissue neoplasm)\n", + " \n", + " \n", + " Oxycephaly\n", + " definition of HP:0000263 (Oxycephaly)\n", + " \n", + " \n", + " Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull.\n", + " definition of HP:0000263 (Oxycephaly)\n", + " \n", + " \n", + " Decreased CSF creatinine concentration\n", + " definition of HP:0034597 (Decreased CSF creatinine concentration)\n", + " \n", + " \n", + " Concentration of creatinine in the cerebrrospinal fluid below the lower limit of normal.\n", + " definition of HP:0034597 (Decreased CSF creatinine concentration)\n", + " \n", + " \n", + " Narrow anterio-posterior vertebral body diameter\n", + " definition of HP:0008473 (Narrow anterio-posterior vertebral body diameter)\n", + " \n", + " \n", + " An abnormal reduction of the anterioposterior diameter of the vertebral body.\n", + " definition of HP:0008473 (Narrow anterio-posterior vertebral body diameter)\n", + " \n", + " \n", + " #Reduced anterior-posterior diameter of vertebral bodies #Reduced sagittal diameter of vertebrae\n", + " definition of HP:0008473 (Narrow anterio-posterior vertebral body diameter)\n", + " \n", + " \n", + " Overfriendliness\n", + " definition of HP:0100025 (Overfriendliness)\n", + " \n", + " \n", + " A form of hypersociability that presents as mostly inappropriate friendliness towards others.\n", + " definition of HP:0100025 (Overfriendliness)\n", + " \n", + " \n", + " #Excessive eagerness to interact with others #Excessive friendliness #Excessive gregariousness #Hypersociability\n", + " definition of HP:0100025 (Overfriendliness)\n", + " \n", + " \n", + " Abnormal finger flexion crease\n", + " definition of HP:0006143 (Abnormal finger flexion crease)\n", + " \n", + " \n", + " Anomalous flexion crease (i.e., a transverse line that crosses the skin of a finger).\n", + " definition of HP:0006143 (Abnormal finger flexion crease)\n", + " \n", + " \n", + " #Abnormal finger flexion creases\n", + " definition of HP:0006143 (Abnormal finger flexion crease)\n", + " \n", + " \n", + " Contractures of the large joints\n", + " definition of HP:0005781 (Contractures of the large joints)\n", + " \n", + " \n", + " Linear atelectasis\n", + " definition of HP:0033657 (Linear atelectasis)\n", + " \n", + " \n", + " Linear atelectasis is a focal area of subsegmental atelectasis with a linear configuration, almost always extending to the pleura. It is commonly horizontal but sometimes oblique or vertical. The thickness of the atelectasis may range from a few millimeters to more than 1 cm.\n", + " definition of HP:0033657 (Linear atelectasis)\n", + " \n", + " \n", + " #Discoid atelectasis #Platelike atelectasis\n", + " definition of HP:0033657 (Linear atelectasis)\n", + " \n", + " \n", + " Anomalous muscle bundle of the right ventricle\n", + " definition of HP:0030740 (Anomalous muscle bundle of the right ventricle)\n", + " \n", + " \n", + " An accessory (not normally present) muscle bundle in the right ventricle which obstructs the right ventricular outflow tract.\n", + " definition of HP:0030740 (Anomalous muscle bundle of the right ventricle)\n", + " \n", + " \n", + " #Right ventricular anomalous muscle bundle\n", + " definition of HP:0030740 (Anomalous muscle bundle of the right ventricle)\n", + " \n", + " \n", + " Pseudobulbar affect\n", + " definition of HP:0002193 (Pseudobulbar affect)\n", + " \n", + " \n", + " Pseudobulbar affect (PBA) is characterized by uncontrolled crying or laughing which may be disproportionate or inappropriate to the social context. Thus, there is a disparity between the patient's emotional expression and his or her emotional experience.\n", + " definition of HP:0002193 (Pseudobulbar affect)\n", + " \n", + " \n", + " #Pseudobulbar behavioral symptoms #Pseudobulbar behavioural symptoms\n", + " definition of HP:0002193 (Pseudobulbar affect)\n", + " \n", + " \n", + " Tongue atrophy\n", + " definition of HP:0012473 (Tongue atrophy)\n", + " \n", + " \n", + " Wasting of the tongue.\n", + " definition of HP:0012473 (Tongue atrophy)\n", + " \n", + " \n", + " #Atrophy of the tongue #Lingual atrophy #Lingual wasting #Wasting of the tongue\n", + " definition of HP:0012473 (Tongue atrophy)\n", + " \n", + " \n", + " Fetal posterior fossa hemorrhage\n", + " definition of HP:0034213 (Fetal posterior fossa hemorrhage)\n", + " \n", + " \n", + " A type of fetal intracranial hemorrhage that occurs in the posterior cranial fossa, which is the part of the cranial cavity that is located between the foramen magnum and tentorium cerebelli and contains the brainstem and cerebellum.\n", + " definition of HP:0034213 (Fetal posterior fossa hemorrhage)\n", + " \n", + " \n", + " Abnormality of the genitourinary system\n", + " definition of HP:0000119 (Abnormality of the genitourinary system)\n", + " \n", + " \n", + " The presence of any abnormality of the genitourinary system.\n", + " definition of HP:0000119 (Abnormality of the genitourinary system)\n", + " \n", + " \n", + " #Abnormality of the GU system #Genitourinary abnormality #Genitourinary tract anomalies #Genitourinary tract malformation #Urogenital abnormalities #Urogenital anomalies\n", + " definition of HP:0000119 (Abnormality of the genitourinary system)\n", + " \n", + " \n", + " Type E brachydactyly\n", + " definition of HP:0005863 (Type E brachydactyly)\n", + " \n", + " \n", + " In type E brachydactyly, shortening of the fingers is mainly in the metacarpals and metatarsals.\n", + " definition of HP:0005863 (Type E brachydactyly)\n", + " \n", + " \n", + " Clubbing of fingers\n", + " definition of HP:0100759 (Clubbing of fingers)\n", + " \n", + " \n", + " Terminal broadening of the fingers (distal phalanges of the fingers).\n", + " definition of HP:0100759 (Clubbing of fingers)\n", + " \n", + " \n", + " #Clubbed fingers #Clubbing (hands) #Clubbing of fingers #Finger clubbing\n", + " definition of HP:0100759 (Clubbing of fingers)\n", + " \n", + " \n", + " Varicose veins\n", + " definition of HP:0002619 (Varicose veins)\n", + " \n", + " \n", + " Enlarged and tortuous veins.\n", + " definition of HP:0002619 (Varicose veins)\n", + " \n", + " \n", + " Systolic anterior motion of the mitral valve\n", + " definition of HP:0031656 (Systolic anterior motion of the mitral valve)\n", + " \n", + " \n", + " Systolic anterior motion of the mitral valve (SAM) is a paradoxical motion of the anterior, and occasionally posterior, mitral valve leaflet towards the left ventricular outflow tract (LVOT) during systole.\n", + " definition of HP:0031656 (Systolic anterior motion of the mitral valve)\n", + " \n", + " \n", + " Tractional retinal detachment\n", + " definition of HP:0007917 (Tractional retinal detachment)\n", + " \n", + " \n", + " A type of retinal detachment arising due to a combination of contracting retinal membranes, abnormal vitreoretinal adhesions, and vitreous changes. It is usually seen in the context of diseases that induce a fibrovascular response, e.g. diabetes.\n", + " definition of HP:0007917 (Tractional retinal detachment)\n", + " \n", + " \n", + " Abnormal muscle fiber emerin\n", + " definition of HP:0030116 (Abnormal muscle fiber emerin)\n", + " \n", + " \n", + " A deviation from normal of the amount of the inner nuclear membrane protein emerin in muscle tissue.\n", + " definition of HP:0030116 (Abnormal muscle fiber emerin)\n", + " \n", + " \n", + " #Abnormal muscle fibre emerin\n", + " definition of HP:0030116 (Abnormal muscle fiber emerin)\n", + " \n", + " \n", + " Anoperineal fistula\n", + " definition of HP:0005218 (Anoperineal fistula)\n", + " \n", + " \n", + " The presence of a fistula (abnormal tunnel) between the anal canal and the perineum.\n", + " definition of HP:0005218 (Anoperineal fistula)\n", + " \n", + " \n", + " Decreased portal vein velocity\n", + " definition of HP:0034883 (Decreased portal vein velocity)\n", + " \n", + " \n", + " A reduction in the velocity of portal venous flow, generally measured by Doppler ultrasound. Portal venous flow is normally towards the liver with peak systolic velocities in the range of 20-40 cm/s.\n", + " definition of HP:0034883 (Decreased portal vein velocity)\n", + " \n", + " \n", + " #Reduced portal venous flow\n", + " definition of HP:0034883 (Decreased portal vein velocity)\n", + " \n", + " \n", + " Fatty replacement of ventricular myocardial tissue\n", + " definition of HP:0031317 (Fatty replacement of ventricular myocardial tissue)\n", + " \n", + " \n", + " Presence of an increased amount of fat tissue within a cardiac ventricle with corresponding reduction of muscle tissue.\n", + " definition of HP:0031317 (Fatty replacement of ventricular myocardial tissue)\n", + " \n", + " \n", + " #Fatty infiltration of cardiac ventricle #Intramyocardial fat infiltration\n", + " definition of HP:0031317 (Fatty replacement of ventricular myocardial tissue)\n", + " \n", + " \n", + " Abnormal cortical bone morphology\n", + " definition of HP:0003103 (Abnormal cortical bone morphology)\n", + " \n", + " \n", + " An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones.\n", + " definition of HP:0003103 (Abnormal cortical bone morphology)\n", + " \n", + " \n", + " #Abnormal compact bone morphology #Abnormality of cortical bone\n", + " definition of HP:0003103 (Abnormal cortical bone morphology)\n", + " \n", + " \n", + " Linear arrays of macular hyperkeratoses in flexural areas\n", + " definition of HP:0007490 (Linear arrays of macular hyperkeratoses in flexural areas)\n", + " \n", + " \n", + " Fixed head retroflexion\n", + " definition of HP:0031178 (Fixed head retroflexion)\n", + " \n", + " \n", + " Head is bent in the posterior direction in a permanent fashion.\n", + " definition of HP:0031178 (Fixed head retroflexion)\n", + " \n", + " \n", + " Sepsis\n", + " definition of HP:0100806 (Sepsis)\n", + " \n", + " \n", + " Systemic inflammatory response to infection.\n", + " definition of HP:0100806 (Sepsis)\n", + " \n", + " \n", + " #Infection in blood stream\n", + " definition of HP:0100806 (Sepsis)\n", + " \n", + " \n", + " Fractured proximal epiphysis of middle phalanx of manual digit 3\n", + " definition of HP:0041198 (Fractured proximal epiphysis of middle phalanx of manual digit 3)\n", + " \n", + " \n", + " A partial or complete breakage of the proximal epiphysis of middle phalanx of manual digit 3.\n", + " definition of HP:0041198 (Fractured proximal epiphysis of middle phalanx of manual digit 3)\n", + " \n", + " \n", + " #bone proximal epiphysis of middle phalanx of manual digit 3\n", + " definition of HP:0041198 (Fractured proximal epiphysis of middle phalanx of manual digit 3)\n", + " \n", + " \n", + " Tapered metacarpals\n", + " definition of HP:0006108 (Tapered metacarpals)\n", + " \n", + " \n", + " Metacarpal that becomes thinner toward the distal end.\n", + " definition of HP:0006108 (Tapered metacarpals)\n", + " \n", + " \n", + " #Tapered long bones of hand\n", + " definition of HP:0006108 (Tapered metacarpals)\n", + " \n", + " \n", + " Autophagic vacuoles\n", + " definition of HP:0003736 (Autophagic vacuoles)\n", + " \n", + " \n", + " The lysosomal-vacuolar pathway has a role in the controlled intracellular digestion of macromolecules such as protein complexes and organelles. This feature refers to the presence of an abnormally increased number of autophagic vacuoles in muscle tissue.\n", + " definition of HP:0003736 (Autophagic vacuoles)\n", + " \n", + " \n", + " Abnormality of body mass index\n", + " definition of HP:0045081 (Abnormality of body mass index)\n", + " \n", + " \n", + " Anomaly in the weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of obesity and underweight compared to averages.\n", + " definition of HP:0045081 (Abnormality of body mass index)\n", + " \n", + " \n", + " #Abnormal BMI #Abnormal body mass index\n", + " definition of HP:0045081 (Abnormality of body mass index)\n", + " \n", + " \n", + " Mediastinal mass\n", + " definition of HP:0033823 (Mediastinal mass)\n", + " \n", + " \n", + " A mass in the mediastinum seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics).\n", + " definition of HP:0033823 (Mediastinal mass)\n", + " \n", + " \n", + " Abnormality of neutrophil morphology in CSF\n", + " definition of HP:0410310 (Abnormality of neutrophil morphology in CSF)\n", + " \n", + " \n", + " An abnormal form or size of neutrophils in the cerebrospinal fluid.\n", + " definition of HP:0410310 (Abnormality of neutrophil morphology in CSF)\n", + " \n", + " \n", + " #Abnormality of neutrophil morphology in cerebrospinal fluid\n", + " definition of HP:0410310 (Abnormality of neutrophil morphology in CSF)\n", + " \n", + " \n", + " Abnormal peritoneum morphology\n", + " definition of HP:0002585 (Abnormal peritoneum morphology)\n", + " \n", + " \n", + " An abnormality of the peritoneum.\n", + " definition of HP:0002585 (Abnormal peritoneum morphology)\n", + " \n", + " \n", + " #Abnormality of the peritoneum\n", + " definition of HP:0002585 (Abnormal peritoneum morphology)\n", + " \n", + " \n", + " Chronic irritative conjunctivitis\n", + " definition of HP:0007717 (Chronic irritative conjunctivitis)\n", + " \n", + " \n", + " A chronic irritative conjunctivitis, which commonly presents with general irritation and redness of the eyes, with a burning, dry, or foreign-body sensation of the eyes.\n", + " definition of HP:0007717 (Chronic irritative conjunctivitis)\n", + " \n", + " \n", + " Axial muscle weakness\n", + " definition of HP:0003327 (Axial muscle weakness)\n", + " \n", + " \n", + " Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs).\n", + " definition of HP:0003327 (Axial muscle weakness)\n", + " \n", + " \n", + " Defective B cell activation\n", + " definition of HP:0005384 (Defective B cell activation)\n", + " \n", + " \n", + " A reduced ability of a B cell to become activated, i.e., the change in morphology and behavior of\n", + " definition of HP:0005384 (Defective B cell activation)\n", + " \n", + " \n", + " Basal cell carcinoma\n", + " definition of HP:0002671 (Basal cell carcinoma)\n", + " \n", + " \n", + " The presence of a basal cell carcinoma of the skin.\n", + " definition of HP:0002671 (Basal cell carcinoma)\n", + " \n", + " \n", + " #Basal cell carcinomas #Basal cell epithelioma #Basal cell nevus #Basalioma\n", + " definition of HP:0002671 (Basal cell carcinoma)\n", + " \n", + " \n", + " Abnormal hair morphology\n", + " definition of HP:0001595 (Abnormal hair morphology)\n", + " \n", + " \n", + " An abnormality of the hair.\n", + " definition of HP:0001595 (Abnormal hair morphology)\n", + " \n", + " \n", + " #Abnormality of the hair #Hair abnormality\n", + " definition of HP:0001595 (Abnormal hair morphology)\n", + " \n", + " \n", + " Neonatal short-limb short stature\n", + " definition of HP:0008921 (Neonatal short-limb short stature)\n", + " \n", + " \n", + " A type of short-limbed dwarfism that is manifest beginning in the neonatal period.\n", + " definition of HP:0008921 (Neonatal short-limb short stature)\n", + " \n", + " \n", + " #Dwarfism, neonatal short-limbed #Neonatal short-limbed dwarfism #Short limb dwarfism recognisable at birth #Short limb dwarfism recognizable at birth #Short-limb dwarfism identifiable at birth #Short-limb dwarfism identifiable neonatally #Short-limbed dwarfism identifiable at birth\n", + " definition of HP:0008921 (Neonatal short-limb short stature)\n", + " \n", + " \n", + " Agenesis of primary mandibular central incisor\n", + " definition of HP:0011047 (Agenesis of primary mandibular central incisor)\n", + " \n", + " \n", + " Agenesis of lower primary incisor.\n", + " definition of HP:0011047 (Agenesis of primary mandibular central incisor)\n", + " \n", + " \n", + " #Agenesis of deciduous lower central incisor #Agenesis of primary lower central incisor #Failure of development of deciduous mandibular central incisor #Failure of development of primary mandibular central incisor\n", + " definition of HP:0011047 (Agenesis of primary mandibular central incisor)\n", + " \n", + " \n", + " Prominent deltoid tuberosities\n", + " definition of HP:0003890 (Prominent deltoid tuberosities)\n", + " \n", + " \n", + " Tarsal osteovalgus\n", + " definition of HP:0001775 (Tarsal osteovalgus)\n", + " \n", + " \n", + " Anti-smooth muscle antibody positivity\n", + " definition of HP:0003262 (Anti-smooth muscle antibody positivity)\n", + " \n", + " \n", + " The presence in serum of antibodies against smooth muscle.\n", + " definition of HP:0003262 (Anti-smooth muscle antibody positivity)\n", + " \n", + " \n", + " #Anti-smooth muscle antibody positivity #Smooth muscle antibody positive #Smooth muscle antibody positivity\n", + " definition of HP:0003262 (Anti-smooth muscle antibody positivity)\n", + " \n", + " \n", + " Type IV truncus arteriosus\n", + " definition of HP:0011610 (Type IV truncus arteriosus)\n", + " \n", + " \n", + " Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby the aortic arch is hypoplastic or interrupted, and a large patent ductus arteriosus is present.\n", + " definition of HP:0011610 (Type IV truncus arteriosus)\n", + " \n", + " \n", + " #Persistent truncus arteriosus type IV #Type 4 truncus arteriosus\n", + " definition of HP:0011610 (Type IV truncus arteriosus)\n", + " \n", + " \n", + " Loss of speech\n", + " definition of HP:0002371 (Loss of speech)\n", + " \n", + " \n", + " #Loss of speech\n", + " definition of HP:0002371 (Loss of speech)\n", + " \n", + " \n", + " Pseudopapilledema\n", + " definition of HP:0000538 (Pseudopapilledema)\n", + " \n", + " \n", + " Apparent optic disc swelling in the absence of increased intracranial pressure.\n", + " definition of HP:0000538 (Pseudopapilledema)\n", + " \n", + " \n", + " Necklace skeletal muscle fibers\n", + " definition of HP:0031238 (Necklace skeletal muscle fibers)\n", + " \n", + " \n", + " A histological alteration of muscle fibers that resembles a necklace (necklace fibers). A substantial proportion of fibers (4-20% in PMID:19084976) show internalized nuclei aligned in a basophilic ring (necklace) at 3 micrometers beneath the sarcolemma. Ultrastructurally, such necklaces consist of myofibrils of smaller diameter, in oblique orientation, surrounded by mitochondria, sarcoplasmic reticulum and glycogen granules.\n", + " definition of HP:0031238 (Necklace skeletal muscle fibers)\n", + " \n", + " \n", + " #Necklace skeletal muscle fibres\n", + " definition of HP:0031238 (Necklace skeletal muscle fibers)\n", + " \n", + " \n", + " Agenesis of central incisor\n", + " definition of HP:0006289 (Agenesis of central incisor)\n", + " \n", + " \n", + " Agenesis of one or more central incisors, i.e., of lower secondary incisor, lower primary incisor, upper secondary incisor, or of upper central primary incisor.\n", + " definition of HP:0006289 (Agenesis of central incisor)\n", + " \n", + " \n", + " #Absent central incisor #Failure of development of central incisor\n", + " definition of HP:0006289 (Agenesis of central incisor)\n", + " \n", + " \n", + " Optic nerve aplasia\n", + " definition of HP:0012521 (Optic nerve aplasia)\n", + " \n", + " \n", + " Congenital absence of the optic nerve.\n", + " definition of HP:0012521 (Optic nerve aplasia)\n", + " \n", + " \n", + " #Absent optic nerve #Aplastic optic nerve\n", + " definition of HP:0012521 (Optic nerve aplasia)\n", + " \n", + " \n", + " Elevated hepatic iron concentration\n", + " definition of HP:0012465 (Elevated hepatic iron concentration)\n", + " \n", + " \n", + " An increased level of iron in liver tissues.\n", + " definition of HP:0012465 (Elevated hepatic iron concentration)\n", + " \n", + " \n", + " #Increased iron concentration in liver #Increased liver iron level\n", + " definition of HP:0012465 (Elevated hepatic iron concentration)\n", + " \n", + " \n", + " Mallory-Weiss tear\n", + " definition of HP:0032062 (Mallory-Weiss tear)\n", + " \n", + " \n", + " Vomiting-induced mucosal laceration at the esophago-gastric junction.\n", + " definition of HP:0032062 (Mallory-Weiss tear)\n", + " \n", + " \n", + " Positive cutaneous varicella zoster virus nucleic acid test\n", + " definition of HP:6000905 (Positive cutaneous varicella zoster virus nucleic acid test)\n", + " \n", + " \n", + " Detection of mucocutaneous varicella zoster virus nucleic acid in the skin by a method such as polymerase chain reaction. The sample is usually obtained by swab from skin or mucous membranes.\n", + " definition of HP:6000905 (Positive cutaneous varicella zoster virus nucleic acid test)\n", + " \n", + " \n", + " Hordeolum externum\n", + " definition of HP:0010607 (Hordeolum externum)\n", + " \n", + " \n", + " Hordeola externa are acute purulent infections affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll, often caused by staphylococcus infections. In contrast to chalazia, hordeola are extremely painfull and can cause extreme local swelling.\n", + " definition of HP:0010607 (Hordeolum externum)\n", + " \n", + " \n", + " Restrictive external ophthalmoplegia\n", + " definition of HP:0007936 (Restrictive external ophthalmoplegia)\n", + " \n", + " \n", + " Fibrosis of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited.\n", + " definition of HP:0007936 (Restrictive external ophthalmoplegia)\n", + " \n", + " \n", + " #Restrictive ophthalmoplegia\n", + " definition of HP:0007936 (Restrictive external ophthalmoplegia)\n", + " \n", + " \n", + " Ciliary body coloboma\n", + " definition of HP:0020006 (Ciliary body coloboma)\n", + " \n", + " \n", + " A coloboma of the ciliary body.\n", + " definition of HP:0020006 (Ciliary body coloboma)\n", + " \n", + " \n", + " Abnormality of the autonomic nervous system\n", + " definition of HP:0002270 (Abnormality of the autonomic nervous system)\n", + " \n", + " \n", + " An abnormality of the autonomic nervous system.\n", + " definition of HP:0002270 (Abnormality of the autonomic nervous system)\n", + " \n", + " \n", + " Colon cancer\n", + " definition of HP:0003003 (Colon cancer)\n", + " \n", + " \n", + " #Colon cancer\n", + " definition of HP:0003003 (Colon cancer)\n", + " \n", + " \n", + " Pericentral scotoma\n", + " definition of HP:0007761 (Pericentral scotoma)\n", + " \n", + " \n", + " A scotoma (area of diminished vision within the visual field) that surrounds the central fixation point.\n", + " definition of HP:0007761 (Pericentral scotoma)\n", + " \n", + " \n", + " Hyaloid vascular remnant and retrolental mass\n", + " definition of HP:0030744 (Hyaloid vascular remnant and retrolental mass)\n", + " \n", + " \n", + " A type of persistence of the hyaloid vascular system associated with a retrolental mass that may lead to fetal cataract.\n", + " definition of HP:0030744 (Hyaloid vascular remnant and retrolental mass)\n", + " \n", + " \n", + " Ectopic ossification\n", + " definition of HP:0011986 (Ectopic ossification)\n", + " \n", + " \n", + " Formation of abnormal, extraskeletal bony tissue, i.e., the presence of bone in soft tissue where bone normally does not exist.\n", + " definition of HP:0011986 (Ectopic ossification)\n", + " \n", + " \n", + " #Ectopic bone formation #Heterotopic ossification\n", + " definition of HP:0011986 (Ectopic ossification)\n", + " \n", + " \n", + " Punctal stenosis\n", + " definition of HP:0025572 (Punctal stenosis)\n", + " \n", + " \n", + " Punctal stenosis is a condition in which the external opening of the lacrimal canaliculus is narrowed or occluded.\n", + " definition of HP:0025572 (Punctal stenosis)\n", + " \n", + " \n", + " #Lacrimal punctum stenosis #Stenosis of the lacrimal punctum\n", + " definition of HP:0025572 (Punctal stenosis)\n", + " \n", + " \n", + " Focal pancreatic islet hyperplasia\n", + " definition of HP:0031223 (Focal pancreatic islet hyperplasia)\n", + " \n", + " \n", + " Hyperplasia of the islets of Langerhans that affects only certain regions of the pancreas and not others.\n", + " definition of HP:0031223 (Focal pancreatic islet hyperplasia)\n", + " \n", + " \n", + " Bilateral superior vena cava with bridging vein\n", + " definition of HP:0011667 (Bilateral superior vena cava with bridging vein)\n", + " \n", + " \n", + " Abnormal pituitary gland morphology\n", + " definition of HP:0012503 (Abnormal pituitary gland morphology)\n", + " \n", + " \n", + " An anomaly of the pituitary gland.\n", + " definition of HP:0012503 (Abnormal pituitary gland morphology)\n", + " \n", + " \n", + " #Abnormality of the pituitary gland #disorder of pituitary gland\n", + " definition of HP:0012503 (Abnormal pituitary gland morphology)\n", + " \n", + " \n", + " Thalamic calcification\n", + " definition of HP:0025041 (Thalamic calcification)\n", + " \n", + " \n", + " Calcium deposition in the thalamus.\n", + " definition of HP:0025041 (Thalamic calcification)\n", + " \n", + " \n", + " Abnormal CSF metabolite concentration\n", + " definition of HP:0025454 (Abnormal CSF metabolite concentration)\n", + " \n", + " \n", + " Any deviation from the normal range of concentration of a metabolite in the cerebrospinal fluid.\n", + " definition of HP:0025454 (Abnormal CSF metabolite concentration)\n", + " \n", + " \n", + " #Abnormal cerebrospinal fluid metabolite concentration #Abnormal CSF metabolite level\n", + " definition of HP:0025454 (Abnormal CSF metabolite concentration)\n", + " \n", + " \n", + " Limited lateral neck flexion\n", + " definition of HP:0033481 (Limited lateral neck flexion)\n", + " \n", + " \n", + " Reduced range of motion resulting in decreased ability to move the ear toward the top of the shoulder.\n", + " definition of HP:0033481 (Limited lateral neck flexion)\n", + " \n", + " \n", + " Increased intracellular sodium\n", + " definition of HP:0003575 (Increased intracellular sodium)\n", + " \n", + " \n", + " An abnormally increased sodium concentration in the cytosol.\n", + " definition of HP:0003575 (Increased intracellular sodium)\n", + " \n", + " \n", + " #High intracellular Na #Increased intracellular Na+ levels\n", + " definition of HP:0003575 (Increased intracellular sodium)\n", + " \n", + " \n", + " Patent ductus arteriosus after birth at term\n", + " definition of HP:0011648 (Patent ductus arteriosus after birth at term)\n", + " \n", + " \n", + " Abnormal persistent patency of the ductus arteriosus in postnatal life when birth was at 37 completed weeks of gestation or greater.\n", + " definition of HP:0011648 (Patent ductus arteriosus after birth at term)\n", + " \n", + " \n", + " Multiple trichilemmomata\n", + " definition of HP:0012846 (Multiple trichilemmomata)\n", + " \n", + " \n", + " Presence of multiple trichilemmomata, a benign tumor originating from the outer root sheath of the hair follicle.\n", + " definition of HP:0012846 (Multiple trichilemmomata)\n", + " \n", + " \n", + " #Multiple trichilemmomas\n", + " definition of HP:0012846 (Multiple trichilemmomata)\n", + " \n", + " \n", + " Cone-shaped epiphysis\n", + " definition of HP:0010579 (Cone-shaped epiphysis)\n", + " \n", + " \n", + " Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery.\n", + " definition of HP:0010579 (Cone-shaped epiphysis)\n", + " \n", + " \n", + " #Cone-shaped end part of bone #Cone-shaped epiphyses #Coned epiphyses\n", + " definition of HP:0010579 (Cone-shaped epiphysis)\n", + " \n", + " \n", + " Bipedal edema\n", + " definition of HP:0033045 (Bipedal edema)\n", + " \n", + " \n", + " A palpable swelling in both feet and ankles caused by an increase in interstitial fluid volume (excess fluid).\n", + " definition of HP:0033045 (Bipedal edema)\n", + " \n", + " \n", + " #Bipedal oedema\n", + " definition of HP:0033045 (Bipedal edema)\n", + " \n", + " \n", + " Prominent superficial veins\n", + " definition of HP:0001015 (Prominent superficial veins)\n", + " \n", + " \n", + " A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticeable than normal.\n", + " definition of HP:0001015 (Prominent superficial veins)\n", + " \n", + " \n", + " #Marked subcutaneous veins #Prominent veins\n", + " definition of HP:0001015 (Prominent superficial veins)\n", + " \n", + " \n", + " Ivory epiphysis of the middle phalanx of the 3rd finger\n", + " definition of HP:0009327 (Ivory epiphysis of the middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " Sclerosis of the epiphysis of the middle phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.\n", + " definition of HP:0009327 (Ivory epiphysis of the middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Increased bone density of end part of the middle bone of the middle finger\n", + " definition of HP:0009327 (Ivory epiphysis of the middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " Increased circulating troponin I concentration\n", + " definition of HP:0410173 (Increased circulating troponin I concentration)\n", + " \n", + " \n", + " An increased concentration of tropnin I in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction.\n", + " definition of HP:0410173 (Increased circulating troponin I concentration)\n", + " \n", + " \n", + " #Increased troponin I level in blood\n", + " definition of HP:0410173 (Increased circulating troponin I concentration)\n", + " \n", + " \n", + " Focal cognitive seizure with left-right confusion\n", + " definition of HP:0032700 (Focal cognitive seizure with left-right confusion)\n", + " \n", + " \n", + " A focal cognitive seizure characterized by left-right confusion as the initial semiological manifestation.\n", + " definition of HP:0032700 (Focal cognitive seizure with left-right confusion)\n", + " \n", + " \n", + " Bilateral single transverse palmar creases\n", + " definition of HP:0007598 (Bilateral single transverse palmar creases)\n", + " \n", + " \n", + " The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands.\n", + " definition of HP:0007598 (Bilateral single transverse palmar creases)\n", + " \n", + " \n", + " Convex nasal ridge\n", + " definition of HP:0000444 (Convex nasal ridge)\n", + " \n", + " \n", + " Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.\n", + " definition of HP:0000444 (Convex nasal ridge)\n", + " \n", + " \n", + " #Beaked nose #Beaklike protrusion #Convex dorsum of nose #Convex nasal dorsum #Hooked nose #Polly beak nasal deformity\n", + " definition of HP:0000444 (Convex nasal ridge)\n", + " \n", + " \n", + " Complete or near-complete absence of specific antibody response to tetanus vaccine\n", + " definition of HP:0410295 (Complete or near-complete absence of specific antibody response to tetanus vaccine)\n", + " \n", + " \n", + " The inability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination.\n", + " definition of HP:0410295 (Complete or near-complete absence of specific antibody response to tetanus vaccine)\n", + " \n", + " \n", + " Bone-in-a-bone appearance of carpal bones\n", + " definition of HP:0004234 (Bone-in-a-bone appearance of carpal bones)\n", + " \n", + " \n", + " The bone-in-bone sign is a radiographic finding produced by increased sclerosis (abnormally dense bone) occurring intermittently with zones of relatively normal bone density. This term should be used to describe such a finding in the carpal bones.\n", + " definition of HP:0004234 (Bone-in-a-bone appearance of carpal bones)\n", + " \n", + " \n", + " B Acute Lymphoblastic Leukemia\n", + " definition of HP:0004812 (B Acute Lymphoblastic Leukemia)\n", + " \n", + " \n", + " A type of ALL characterized by elevated levels of B-cell lymphoblasts in the bone marrow and the blood.\n", + " definition of HP:0004812 (B Acute Lymphoblastic Leukemia)\n", + " \n", + " \n", + " #B Acute Lymphoblastic Leukaemia #Pre-B-cell acute lymphoblastic leukaemia #Pre-B-cell acute lymphoblastic leukemia\n", + " definition of HP:0004812 (B Acute Lymphoblastic Leukemia)\n", + " \n", + " \n", + " Breast microcalcification\n", + " definition of HP:0040403 (Breast microcalcification)\n", + " \n", + " \n", + " The term breast microcalcification is used to define calcium deposits in the breast with a diameter of less than 1 mm.\n", + " definition of HP:0040403 (Breast microcalcification)\n", + " \n", + " \n", + " #Microcalcifications of the breast\n", + " definition of HP:0040403 (Breast microcalcification)\n", + " \n", + " \n", + " Pseudoepiphysis of the 1st metacarpal\n", + " definition of HP:0010022 (Pseudoepiphysis of the 1st metacarpal)\n", + " \n", + " \n", + " The epiphysis of the first metacarpal is localized at the proximal end of the metacarpal bone although an accessory epiphysis may be located at the distal end of the metacarpal.\n", + " definition of HP:0010022 (Pseudoepiphysis of the 1st metacarpal)\n", + " \n", + " \n", + " Pulmonary carcinoid tumor\n", + " definition of HP:0030445 (Pulmonary carcinoid tumor)\n", + " \n", + " \n", + " A malignant neuroendocrine tumor of the lung. According to histopathologic criteria (WHO 2004), carcinoids are divided into four groups i.e. typical and atypical carcinoids, large cell neuroendocrine carcinoma and small cell lung carcinoma.\n", + " definition of HP:0030445 (Pulmonary carcinoid tumor)\n", + " \n", + " \n", + " #Lung carcinoid tumor #Lung carcinoid tumour #Pulmonary carcinoid tumour\n", + " definition of HP:0030445 (Pulmonary carcinoid tumor)\n", + " \n", + " \n", + " Abnormality of tumor necrosis factor secretion\n", + " definition of HP:0011118 (Abnormality of tumor necrosis factor secretion)\n", + " \n", + " \n", + " An abnormality in the production or cellular release of tumor necrosis factor.\n", + " definition of HP:0011118 (Abnormality of tumor necrosis factor secretion)\n", + " \n", + " \n", + " #Abnormality of cachectin secretion #Abnormality of cachexin secretion #Abnormality of tumour necrosis factor secretion\n", + " definition of HP:0011118 (Abnormality of tumor necrosis factor secretion)\n", + " \n", + " \n", + " Widened mediastinum\n", + " definition of HP:0034501 (Widened mediastinum)\n", + " \n", + " \n", + " Abnormal increase in the width of the mediastinum, often defined as being greater than 6 to 8 cm.\n", + " definition of HP:0034501 (Widened mediastinum)\n", + " \n", + " \n", + " #Mediastinal widening\n", + " definition of HP:0034501 (Widened mediastinum)\n", + " \n", + " \n", + " CD79a expression\n", + " definition of HP:0020290 (CD79a expression)\n", + " \n", + " \n", + " Detection of the presence of CD79a on the cell(s) of interest with the use of anti-CD79a antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry).\n", + " definition of HP:0020290 (CD79a expression)\n", + " \n", + " \n", + " Focal aware autonomic seizure\n", + " definition of HP:0032740 (Focal aware autonomic seizure)\n", + " \n", + " \n", + " A focal aware autonomic seizure has an initial manifestation pertaining to autonomic nervous system function, which may be objective (for example, pupillary dilation) or subjective (for example, nausea). As a type of focal aware seizure, awareness is retained throughout.\n", + " definition of HP:0032740 (Focal aware autonomic seizure)\n", + " \n", + " \n", + " #Focal autonomic seizures without altered responsiveness #Localised autonomic seizures without altered responsiveness #Localized autonomic seizures without altered responsiveness #Partial autonomic seizures without altered responsiveness\n", + " definition of HP:0032740 (Focal aware autonomic seizure)\n", + " \n", + " \n", + " Scalp nodule\n", + " definition of HP:6000726 (Scalp nodule)\n", + " \n", + " \n", + " A small firm lump located in the skin of the scalp that is greater than one cm in diameter.\n", + " definition of HP:6000726 (Scalp nodule)\n", + " \n", + " \n", + " #Scalp nodules\n", + " definition of HP:6000726 (Scalp nodule)\n", + " \n", + " \n", + " Cystic pattern on pulmonary HRCT\n", + " definition of HP:0025394 (Cystic pattern on pulmonary HRCT)\n", + " \n", + " \n", + " On pulmonary high-resolution computed tomography, the cystic pattern is composed by well-defined, round and circumscribed air-containing parenchymal spaces with a well-defined wall and interface with normal lung. The wall of the cysts may be uniform or varied in thickness, but usually is thin (less than 2 mm) and occurs without associated emphysema.\n", + " definition of HP:0025394 (Cystic pattern on pulmonary HRCT)\n", + " \n", + " \n", + " Deficit in phonologic short-term memory\n", + " definition of HP:0002549 (Deficit in phonologic short-term memory)\n", + " \n", + " \n", + " Impaired ability to repeat non-word sounds. The test for nonword repetition involves the repetition of nonsensical words of increasing length and complexity and is regarded as a measure of phonological (speech sound) processing and short-term memory\n", + " definition of HP:0002549 (Deficit in phonologic short-term memory)\n", + " \n", + " \n", + " #Deficit in non-word repetition #Impaired non-word repetition\n", + " definition of HP:0002549 (Deficit in phonologic short-term memory)\n", + " \n", + " \n", + " Iron deficiency anemia\n", + " definition of HP:0001891 (Iron deficiency anemia)\n", + " \n", + " \n", + " #Ferropenic #Iron deficiency anaemia #Iron-deficiency anaemia #Iron-deficiency anemia\n", + " definition of HP:0001891 (Iron deficiency anemia)\n", + " \n", + " \n", + " Gastrointestinal hemorrhage\n", + " definition of HP:0002239 (Gastrointestinal hemorrhage)\n", + " \n", + " \n", + " Hemorrhage affecting the gastrointestinal tract.\n", + " definition of HP:0002239 (Gastrointestinal hemorrhage)\n", + " \n", + " \n", + " #Gastrointestinal bleeding #Gastrointestinal haemorrhage #GI haemorrhage #GI hemorrhage\n", + " definition of HP:0002239 (Gastrointestinal hemorrhage)\n", + " \n", + " \n", + " Focal cognitive seizure\n", + " definition of HP:0032680 (Focal cognitive seizure)\n", + " \n", + " \n", + " A focal cognitive seizure involves an alteration in a cognitive function (which can be a deficit or a positive phenomenon such as forced thought), which occurs at seizure onset. To be classified as a focal cognitive seizure, the change in cognitive function should be specific and out of proportion to other relatively unimpaired aspects of cognition, because all cognition is impaired in a focal impaired awareness seizure.\n", + " definition of HP:0032680 (Focal cognitive seizure)\n", + " \n", + " \n", + " #Cognitive aura #Cognitive seizure #Partial cognitive seizure\n", + " definition of HP:0032680 (Focal cognitive seizure)\n", + " \n", + " \n", + " Abnormal lower limb bone morphology\n", + " definition of HP:0040069 (Abnormal lower limb bone morphology)\n", + " \n", + " \n", + " #Abnormal morphology of bones of the lower limbs #Abnormal shape of bones of the lower limbs #Abnormality of lower limb bone\n", + " definition of HP:0040069 (Abnormal lower limb bone morphology)\n", + " \n", + " \n", + " Anti-GM2 antibody positivity\n", + " definition of HP:0034132 (Anti-GM2 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM2.\n", + " definition of HP:0034132 (Anti-GM2 antibody positivity)\n", + " \n", + " \n", + " Posterior staphyloma\n", + " definition of HP:0030856 (Posterior staphyloma)\n", + " \n", + " \n", + " A localized defect in the posterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure.\n", + " definition of HP:0030856 (Posterior staphyloma)\n", + " \n", + " \n", + " Elevated mean arterial pressure\n", + " definition of HP:0004972 (Elevated mean arterial pressure)\n", + " \n", + " \n", + " An abnormal increase in the average blood pressure in an individual during a single cardiac cycle.\n", + " definition of HP:0004972 (Elevated mean arterial pressure)\n", + " \n", + " \n", + " Elevated serum transaminases during infections\n", + " definition of HP:0008150 (Elevated serum transaminases during infections)\n", + " \n", + " \n", + " Elevations of the levels of SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) that occur during infections.\n", + " definition of HP:0008150 (Elevated serum transaminases during infections)\n", + " \n", + " \n", + " Impaired gluconeogenesis\n", + " definition of HP:0005959 (Impaired gluconeogenesis)\n", + " \n", + " \n", + " An impairment of gluconeogenesis.\n", + " definition of HP:0005959 (Impaired gluconeogenesis)\n", + " \n", + " \n", + " #Gluconeogenesis impaired\n", + " definition of HP:0005959 (Impaired gluconeogenesis)\n", + " \n", + " \n", + " Widened cerebellar subarachnoid space\n", + " definition of HP:0012765 (Widened cerebellar subarachnoid space)\n", + " \n", + " \n", + " An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebellum.\n", + " definition of HP:0012765 (Widened cerebellar subarachnoid space)\n", + " \n", + " \n", + " Neoplasm of the peripheral nervous system\n", + " definition of HP:0100007 (Neoplasm of the peripheral nervous system)\n", + " \n", + " \n", + " A benign or malignant neoplasm (tumor) of the peripheral nervous system.\n", + " definition of HP:0100007 (Neoplasm of the peripheral nervous system)\n", + " \n", + " \n", + " #Tumor of the peripheral nervous system #Tumour of the peripheral nervous system\n", + " definition of HP:0100007 (Neoplasm of the peripheral nervous system)\n", + " \n", + " \n", + " Abnormality of the epiphysis of the middle phalanx of the 4th toe\n", + " definition of HP:0100095 (Abnormality of the epiphysis of the middle phalanx of the 4th toe)\n", + " \n", + " \n", + " #Abnormality of the end part of the middle bone of the 4th toe\n", + " definition of HP:0100095 (Abnormality of the epiphysis of the middle phalanx of the 4th toe)\n", + " \n", + " \n", + " Abnormal sarcomere morphology\n", + " definition of HP:0020201 (Abnormal sarcomere morphology)\n", + " \n", + " \n", + " Any structural anomaly of the sarcomere, which is unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z disks.\n", + " definition of HP:0020201 (Abnormal sarcomere morphology)\n", + " \n", + " \n", + " Mandibular condyle hypoplasia\n", + " definition of HP:0007628 (Mandibular condyle hypoplasia)\n", + " \n", + " \n", + " #Decreased size of condylar process of mandible #Decreased size of mandibular condyle #Hypoplasia of condylar process of mandible #Hypoplasia of mandibular condyle #Hypoplasia of subcondylar region of mandible #Small mandibular condyle\n", + " definition of HP:0007628 (Mandibular condyle hypoplasia)\n", + " \n", + " \n", + " Focal cortical dysplasia type IIa\n", + " definition of HP:0032052 (Focal cortical dysplasia type IIa)\n", + " \n", + " \n", + " A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons, which present with a significantly enlarged cell body and nucleus, malorientation, abnormally distributed intracellular Nissl substance and cytoplasmic accumulation of neurofilament proteins.\n", + " definition of HP:0032052 (Focal cortical dysplasia type IIa)\n", + " \n", + " \n", + " Anti-Mi2 antibody positivity\n", + " definition of HP:0033554 (Anti-Mi2 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies in the blood circulation that react against the Mi-2 antigen.\n", + " definition of HP:0033554 (Anti-Mi2 antibody positivity)\n", + " \n", + " \n", + " Clinical modifier\n", + " definition of HP:0012823 (Clinical modifier)\n", + " \n", + " \n", + " This subontology is designed to provide terms to characterize and specify the phenotypic abnormalities defined in the Phenotypic abnormality subontology, with respect to severity, laterality, age of onset, and other aspects.\n", + " definition of HP:0012823 (Clinical modifier)\n", + " \n", + " \n", + " #Phenotypic modifier\n", + " definition of HP:0012823 (Clinical modifier)\n", + " \n", + " \n", + " Perifoveal ring of hyperautofluorescence surrounded by abnormal autofluorescence\n", + " definition of HP:0030634 (Perifoveal ring of hyperautofluorescence surrounded by abnormal autofluorescence)\n", + " \n", + " \n", + " EMG: neuropathic changes\n", + " definition of HP:0003445 (EMG: neuropathic changes)\n", + " \n", + " \n", + " The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials).\n", + " definition of HP:0003445 (EMG: neuropathic changes)\n", + " \n", + " \n", + " #EMG: neurogenic abnormalities #EMG: neurogenic changes #EMG: neurogenic findings\n", + " definition of HP:0003445 (EMG: neuropathic changes)\n", + " \n", + " \n", + " Aplasia/Hypoplasia involving bones of the feet\n", + " definition of HP:0006494 (Aplasia/Hypoplasia involving bones of the feet)\n", + " \n", + " \n", + " #Absent/small foot bones #Absent/underdeveloped foot bones\n", + " definition of HP:0006494 (Aplasia/Hypoplasia involving bones of the feet)\n", + " \n", + " \n", + " Limited neck range of motion\n", + " definition of HP:0000466 (Limited neck range of motion)\n", + " \n", + " \n", + " #Limited cervical range of motion #Limited neck range of motion\n", + " definition of HP:0000466 (Limited neck range of motion)\n", + " \n", + " \n", + " Periodic fever\n", + " definition of HP:0032323 (Periodic fever)\n", + " \n", + " \n", + " Episodic fever that recurs at regular intervals.\n", + " definition of HP:0032323 (Periodic fever)\n", + " \n", + " \n", + " Osteolytic defects of the proximal phalanges of the hand\n", + " definition of HP:0009855 (Osteolytic defects of the proximal phalanges of the hand)\n", + " \n", + " \n", + " #Proximal phalanges osteolysis\n", + " definition of HP:0009855 (Osteolytic defects of the proximal phalanges of the hand)\n", + " \n", + " \n", + " History of recent hospitalization\n", + " definition of HP:6000034 (History of recent hospitalization)\n", + " \n", + " \n", + " A past medical history of recently being hospitalized.\n", + " definition of HP:6000034 (History of recent hospitalization)\n", + " \n", + " \n", + " Abnormality of the vertebral column\n", + " definition of HP:0000925 (Abnormality of the vertebral column)\n", + " \n", + " \n", + " Any abnormality of the vertebral column.\n", + " definition of HP:0000925 (Abnormality of the vertebral column)\n", + " \n", + " \n", + " #Abnormal spine #Abnormal vertebral column #Abnormality of the spine #Abnormality of the vertebral column\n", + " definition of HP:0000925 (Abnormality of the vertebral column)\n", + " \n", + " \n", + " Anti-ryanodine receptor antibody\n", + " definition of HP:5000047 (Anti-ryanodine receptor antibody)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ryanodine receptor.\n", + " definition of HP:5000047 (Anti-ryanodine receptor antibody)\n", + " \n", + " \n", + " #Anti-RyR antibody\n", + " definition of HP:5000047 (Anti-ryanodine receptor antibody)\n", + " \n", + " \n", + " Pulmonary bleb\n", + " definition of HP:0032447 (Pulmonary bleb)\n", + " \n", + " \n", + " A bleb is a small gas-containing space within the visceral pleura or in the subpleural lung, not larger than 1 cm in diameter. CT findings show a bleb as a thin-walled cystic air space contiguous with the pleura.\n", + " definition of HP:0032447 (Pulmonary bleb)\n", + " \n", + " \n", + " Absent keratohyalin granules\n", + " definition of HP:0033807 (Absent keratohyalin granules)\n", + " \n", + " \n", + " Lack of keratohyalin granules, which are normally present in the stratum granulosum of the epidermal layer of the skin.\n", + " definition of HP:0033807 (Absent keratohyalin granules)\n", + " \n", + " \n", + " Esophagitis\n", + " definition of HP:0100633 (Esophagitis)\n", + " \n", + " \n", + " Inflammation of the esophagus.\n", + " definition of HP:0100633 (Esophagitis)\n", + " \n", + " \n", + " #Inflammation of the esophagus #Inflammation of the oesophagus #Oesophagitis\n", + " definition of HP:0100633 (Esophagitis)\n", + " \n", + " \n", + " Addictive heroin use\n", + " definition of HP:0033517 (Addictive heroin use)\n", + " \n", + " \n", + " Addiction to heroin.\n", + " definition of HP:0033517 (Addictive heroin use)\n", + " \n", + " \n", + " #Heroin addiction #Heroin dependence\n", + " definition of HP:0033517 (Addictive heroin use)\n", + " \n", + " \n", + " Reduced tissue argininosuccinate synthetase activity\n", + " definition of HP:6000353 (Reduced tissue argininosuccinate synthetase activity)\n", + " \n", + " \n", + " Concentration of argininosuccinate synthetase (EC 6.3.4.5) in body tissues is below the lower limit of normal. Clinically, argininosuccinate synthetase is measured in the liver or in cultered skin fibroblasts.\n", + " definition of HP:6000353 (Reduced tissue argininosuccinate synthetase activity)\n", + " \n", + " \n", + " #Reduced argininosuccinate synthetase activity in cultured fibroblasts #Reduced hepatic argininosuccinate synthetase activity\n", + " definition of HP:6000353 (Reduced tissue argininosuccinate synthetase activity)\n", + " \n", + " \n", + " Diffuse\n", + " definition of HP:0020034 (Diffuse)\n", + " \n", + " \n", + " A spatial pattern that is spread out, i.e., not localized.\n", + " definition of HP:0020034 (Diffuse)\n", + " \n", + " \n", + " Abnormal jugular vein morphology\n", + " definition of HP:3000042 (Abnormal jugular vein morphology)\n", + " \n", + " \n", + " Any structural abnormality of a jugular vein.\n", + " definition of HP:3000042 (Abnormal jugular vein morphology)\n", + " \n", + " \n", + " #Abnormality of jugular vein\n", + " definition of HP:3000042 (Abnormal jugular vein morphology)\n", + " \n", + " \n", + " Tall stature\n", + " definition of HP:0000098 (Tall stature)\n", + " \n", + " \n", + " A height above that which is expected according to age and gender norms.\n", + " definition of HP:0000098 (Tall stature)\n", + " \n", + " \n", + " #Accelerated linear growth #Increased body height #Increased linear growth #Tall stature\n", + " definition of HP:0000098 (Tall stature)\n", + " \n", + " \n", + " Neonatal electro-clinical myoclonic seizure\n", + " definition of HP:0032815 (Neonatal electro-clinical myoclonic seizure)\n", + " \n", + " \n", + " Neonatal electro-clinical myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal).\n", + " definition of HP:0032815 (Neonatal electro-clinical myoclonic seizure)\n", + " \n", + " \n", + " #Neonatal electroclinical myoclonic seizure\n", + " definition of HP:0032815 (Neonatal electro-clinical myoclonic seizure)\n", + " \n", + " \n", + " Absence of renal corticomedullary differentiation\n", + " definition of HP:0005564 (Absence of renal corticomedullary differentiation)\n", + " \n", + " \n", + " A lack of differentiation between renal cortex and medulla on diagnostic imaging.\n", + " definition of HP:0005564 (Absence of renal corticomedullary differentiation)\n", + " \n", + " \n", + " #Absent renal corticomedullary differentiation #Loss of corticomedullary differentiation\n", + " definition of HP:0005564 (Absence of renal corticomedullary differentiation)\n", + " \n", + " \n", + " Liposarcoma\n", + " definition of HP:0012034 (Liposarcoma)\n", + " \n", + " \n", + " Malignant neoplasms which probably originate in primitive mesenchymal stem cell populations differentiating down a lipomatous pathway.\n", + " definition of HP:0012034 (Liposarcoma)\n", + " \n", + " \n", + " Aplasia/hypoplasia of the proximal phalanx of the 2nd toe\n", + " definition of HP:0010395 (Aplasia/hypoplasia of the proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Absence (agenesis) or underdevelopment of the proximal phalanx of the 2nd toe.\n", + " definition of HP:0010395 (Aplasia/hypoplasia of the proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Absent/small innermost 2nd toe bone #Absent/underdeveloped innermost 2nd toe bone\n", + " definition of HP:0010395 (Aplasia/hypoplasia of the proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Abnormal metatarsal ossification\n", + " definition of HP:0008371 (Abnormal metatarsal ossification)\n", + " \n", + " \n", + " Any abnormal process of ossification of the metatarsal bones, which normally are each ossified from two centers: one for the body, and one for the head (metatarsal II,III,IV, and V) and one for the body and one for the base (metatarsal I). The ossification process begins in the center of the body about the ninth week, and extends toward either extremity. The center for the base of the first metatarsal appears about the third year, and the centers for the heads of the other bones between the fifth and eighth years. They join the bodies between the eighteenth and twentieth years.\n", + " definition of HP:0008371 (Abnormal metatarsal ossification)\n", + " \n", + " \n", + " #Abnormal ossification involving metatarsal bones\n", + " definition of HP:0008371 (Abnormal metatarsal ossification)\n", + " \n", + " \n", + " Cementum overgrowth\n", + " definition of HP:0033788 (Cementum overgrowth)\n", + " \n", + " \n", + " Excess of cementum on the tooth root surface.\n", + " definition of HP:0033788 (Cementum overgrowth)\n", + " \n", + " \n", + " #Cementation hyperplasia #Cementum hypertrophy #Cementum overdeveloped #Drumstick-shaped root #Hypercementosis\n", + " definition of HP:0033788 (Cementum overgrowth)\n", + " \n", + " \n", + " Liver leiomyoma\n", + " definition of HP:4000154 (Liver leiomyoma)\n", + " \n", + " \n", + " A benign smooth muscle neoplasm that arises in the liver.\n", + " definition of HP:4000154 (Liver leiomyoma)\n", + " \n", + " \n", + " #Hepatic leiomyoma\n", + " definition of HP:4000154 (Liver leiomyoma)\n", + " \n", + " \n", + " Diffuse breast nodularity\n", + " definition of HP:0040415 (Diffuse breast nodularity)\n", + " \n", + " \n", + " Breast tissue with a lumpy or ropelike texture.\n", + " definition of HP:0040415 (Diffuse breast nodularity)\n", + " \n", + " \n", + " Tongue neurofibroma\n", + " definition of HP:0034762 (Tongue neurofibroma)\n", + " \n", + " \n", + " A neurofibroma (benign peripheral nerve sheath tumor) localized in the tongue.\n", + " definition of HP:0034762 (Tongue neurofibroma)\n", + " \n", + " \n", + " Achalasia\n", + " definition of HP:0002571 (Achalasia)\n", + " \n", + " \n", + " A disorder of esophageal motility characterized by the inability of the lower esophageal sphincter to relax during swallowing and by inadequate or lacking peristalsis in the lower half of the body of the esophagus.\n", + " definition of HP:0002571 (Achalasia)\n", + " \n", + " \n", + " #Achalasia of the esophagus #Achalasia of the oesophagus\n", + " definition of HP:0002571 (Achalasia)\n", + " \n", + " \n", + " Tracheoesophageal fistula\n", + " definition of HP:0002575 (Tracheoesophageal fistula)\n", + " \n", + " \n", + " An abnormal connection (fistula) between the esophagus and the trachea.\n", + " definition of HP:0002575 (Tracheoesophageal fistula)\n", + " \n", + " \n", + " Congenital horizontal nystagmus\n", + " definition of HP:0007859 (Congenital horizontal nystagmus)\n", + " \n", + " \n", + " Horizontal nystagmus dating from or present at birth.\n", + " definition of HP:0007859 (Congenital horizontal nystagmus)\n", + " \n", + " \n", + " #Nystagmus, congenital horizontal\n", + " definition of HP:0007859 (Congenital horizontal nystagmus)\n", + " \n", + " \n", + " Prematurely aged appearance\n", + " definition of HP:0007495 (Prematurely aged appearance)\n", + " \n", + " \n", + " #Precociously senile appearance #Prematurely aged appearance\n", + " definition of HP:0007495 (Prematurely aged appearance)\n", + " \n", + " \n", + " Antistreptolysin O antibody positivity\n", + " definition of HP:6000348 (Antistreptolysin O antibody positivity)\n", + " \n", + " \n", + " The presence of antibodies in the blood circulation that react against streptolysin O.\n", + " definition of HP:6000348 (Antistreptolysin O antibody positivity)\n", + " \n", + " \n", + " Flat forehead\n", + " definition of HP:0004425 (Flat forehead)\n", + " \n", + " \n", + " A forehead with abnormal flatness.\n", + " definition of HP:0004425 (Flat forehead)\n", + " \n", + " \n", + " #Flat forehead #Flattened forehead #Frontal flattening\n", + " definition of HP:0004425 (Flat forehead)\n", + " \n", + " \n", + " Anti-trypanosoma cruzi antibody positivity\n", + " definition of HP:0430055 (Anti-trypanosoma cruzi antibody positivity)\n", + " \n", + " \n", + " The presence of antibodies in the blood circulation that react against a component of trypanosoma cruzi.\n", + " definition of HP:0430055 (Anti-trypanosoma cruzi antibody positivity)\n", + " \n", + " \n", + " Wafer-thin platyspondyly\n", + " definition of HP:0008452 (Wafer-thin platyspondyly)\n", + " \n", + " \n", + " Increased plasma vitamin K epoxide after vitamin K supplementation\n", + " definition of HP:0040239 (Increased plasma vitamin K epoxide after vitamin K supplementation)\n", + " \n", + " \n", + " Increased plasma vitamin K epoxide after vitamin K supplementation is present in VKCFD (vitamin K-dependent clotting factor deficiency) type 2, but not in VKCFD type 1.\n", + " definition of HP:0040239 (Increased plasma vitamin K epoxide after vitamin K supplementation)\n", + " \n", + " \n", + " Abnormal retinal nerve fiber layer morphology\n", + " definition of HP:0020119 (Abnormal retinal nerve fiber layer morphology)\n", + " \n", + " \n", + " A structural abnormality of the retinal nerve fiber layer\n", + " definition of HP:0020119 (Abnormal retinal nerve fiber layer morphology)\n", + " \n", + " \n", + " #Abnormal retinal nerve fibre layer morphology\n", + " definition of HP:0020119 (Abnormal retinal nerve fiber layer morphology)\n", + " \n", + " \n", + " Thyroglossal cyst\n", + " definition of HP:0010518 (Thyroglossal cyst)\n", + " \n", + " \n", + " An abnormality of the thyroid gland owing to the presence of a fibrous cyst resulting from the persistence of the thyroglossal duct.\n", + " definition of HP:0010518 (Thyroglossal cyst)\n", + " \n", + " \n", + " #Thyroglossal duct cyst\n", + " definition of HP:0010518 (Thyroglossal cyst)\n", + " \n", + " \n", + " Bird-like facies\n", + " definition of HP:0000320 (Bird-like facies)\n", + " \n", + " \n", + " #Bird-like facial appearance\n", + " definition of HP:0000320 (Bird-like facies)\n", + " \n", + " \n", + " Proximal tibial and fibular fusion\n", + " definition of HP:0005892 (Proximal tibial and fibular fusion)\n", + " \n", + " \n", + " A developmental defect characterized by the abnormal fusion of the proximal tibia and fibula.\n", + " definition of HP:0005892 (Proximal tibial and fibular fusion)\n", + " \n", + " \n", + " #Fusion of innermost shinbone and calf bone #Proximal tibiofibular synostosis\n", + " definition of HP:0005892 (Proximal tibial and fibular fusion)\n", + " \n", + " \n", + " Glycopeptiduria\n", + " definition of HP:0012067 (Glycopeptiduria)\n", + " \n", + " \n", + " Increased excretion of glycopeptides in the urine. Glycopeptides are peptides with carbohydrate moieties covalently attached to the side chains of the amino acid residues.\n", + " definition of HP:0012067 (Glycopeptiduria)\n", + " \n", + " \n", + " #High urine glycopeptide levels\n", + " definition of HP:0012067 (Glycopeptiduria)\n", + " \n", + " \n", + " Palatal tremor\n", + " definition of HP:0010530 (Palatal tremor)\n", + " \n", + " \n", + " Palatal tremor (PT) is an involuntary, rhythmic and oscillatory movement of the soft palate. PT is a rare type of tremor involving the soft palate. It can be unilateral or bilateral.\n", + " definition of HP:0010530 (Palatal tremor)\n", + " \n", + " \n", + " #Palatal myoclonus\n", + " definition of HP:0010530 (Palatal tremor)\n", + " \n", + " \n", + " Abnormal cellular immune system morphology\n", + " definition of HP:0010987 (Abnormal cellular immune system morphology)\n", + " \n", + " \n", + " An abnormality of the morphology or counts of the cells that make up the immune system.\n", + " definition of HP:0010987 (Abnormal cellular immune system morphology)\n", + " \n", + " \n", + " Elevated circulating CCL4 concentration\n", + " definition of HP:6000688 (Elevated circulating CCL4 concentration)\n", + " \n", + " \n", + " The concentration of C-C Motif Ligand 4 (CCL4) in the blood circulation is above the upper limit of normal.\n", + " definition of HP:6000688 (Elevated circulating CCL4 concentration)\n", + " \n", + " \n", + " Semidominant inheritance\n", + " definition of HP:0032113 (Semidominant inheritance)\n", + " \n", + " \n", + " A mode of inheritance that is observed for traits related to a gene encoded on chromosomes in which a trait can manifest in a monoallelic (e.g. heterozygotes) and biallelic (e.g. homozygotes, compound heterozygotes) state, with similar or differing phenotype severity present dependent on the number of alleles affected.\n", + " definition of HP:0032113 (Semidominant inheritance)\n", + " \n", + " \n", + " #Semidominant mode of inheritance\n", + " definition of HP:0032113 (Semidominant inheritance)\n", + " \n", + " \n", + " Hyperactivity\n", + " definition of HP:0000752 (Hyperactivity)\n", + " \n", + " \n", + " Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate.\n", + " definition of HP:0000752 (Hyperactivity)\n", + " \n", + " \n", + " #Hyperactive behavior #Hyperactive behaviour #Hyperkinetic disorder #hyperkinetic disorder #More active than typical\n", + " definition of HP:0000752 (Hyperactivity)\n", + " \n", + " \n", + " Prominent calcaneus\n", + " definition of HP:0012428 (Prominent calcaneus)\n", + " \n", + " \n", + " Protruding heel bone, or calcaneus.\n", + " definition of HP:0012428 (Prominent calcaneus)\n", + " \n", + " \n", + " #Prominent heel bone\n", + " definition of HP:0012428 (Prominent calcaneus)\n", + " \n", + " \n", + " Abnormal renal arteriole lumen morphology\n", + " definition of HP:0033890 (Abnormal renal arteriole lumen morphology)\n", + " \n", + " \n", + " Abnormal structural characteristics of the interior space (lumen) of renal arterioles.\n", + " definition of HP:0033890 (Abnormal renal arteriole lumen morphology)\n", + " \n", + " \n", + " Alveolar soft part sarcoma\n", + " definition of HP:0012218 (Alveolar soft part sarcoma)\n", + " \n", + " \n", + " A type of soft tissue sarcoma with a histological appearance reminiscent of alveoli because of its reticulated fibrous stroma enclosing groups of sarcoma cells, which resemble epithelial cells and are enclosed in alveoli walled with connective tissue.\n", + " definition of HP:0012218 (Alveolar soft part sarcoma)\n", + " \n", + " \n", + " Thought broadcasting\n", + " definition of HP:0025777 (Thought broadcasting)\n", + " \n", + " \n", + " The experience that thoughts are being broadcasted from their head/conscious experience, some report that their thoughts are escaping, while others may believe that their thoughts are being picked up by a nearby receiver only to be further propagated. The person subsequently believes that everyone knows what they are thinking and feels that they have no privacy.\n", + " definition of HP:0025777 (Thought broadcasting)\n", + " \n", + " \n", + " Abnormal tibial metaphysis morphology\n", + " definition of HP:0006491 (Abnormal tibial metaphysis morphology)\n", + " \n", + " \n", + " #Abnormality of the tibial metaphysis\n", + " definition of HP:0006491 (Abnormal tibial metaphysis morphology)\n", + " \n", + " \n", + " Spinal canal stenosis\n", + " definition of HP:0003416 (Spinal canal stenosis)\n", + " \n", + " \n", + " An abnormal narrowing of the spinal canal.\n", + " definition of HP:0003416 (Spinal canal stenosis)\n", + " \n", + " \n", + " #Narrow spinal canal #Spinal stenosis\n", + " definition of HP:0003416 (Spinal canal stenosis)\n", + " \n", + " \n", + " Abnormal extrahepatic bile duct morphology\n", + " definition of HP:0035013 (Abnormal extrahepatic bile duct morphology)\n", + " \n", + " \n", + " Decreased blood drug concentration\n", + " definition of HP:0020171 (Decreased blood drug concentration)\n", + " \n", + " \n", + " Low plasma concentration of a drug as compared to previously measured thresholds given the expected concentration for the applied dosage regime.\n", + " definition of HP:0020171 (Decreased blood drug concentration)\n", + " \n", + " \n", + " #Decreased plasma drug concentration #Decreased serum drug concentration #Reduced blood drug concentration #Reduced plasma drug concentration #Reduced serum drug concentrations\n", + " definition of HP:0020171 (Decreased blood drug concentration)\n", + " \n", + " \n", + " Irregular ossification of the radial metaphysis\n", + " definition of HP:0004020 (Irregular ossification of the radial metaphysis)\n", + " \n", + " \n", + " Attention deficit hyperactivity disorder\n", + " definition of HP:0007018 (Attention deficit hyperactivity disorder)\n", + " \n", + " \n", + " Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient.\n", + " definition of HP:0007018 (Attention deficit hyperactivity disorder)\n", + " \n", + " \n", + " #ADHD #Attention deficit #Attention deficit disorder #Attention deficit-hyperactivity disorder #Attention deficits #Childhood attention deficit/hyperactivity disorder\n", + " definition of HP:0007018 (Attention deficit hyperactivity disorder)\n", + " \n", + " \n", + " Corneal astigmatism\n", + " definition of HP:0025612 (Corneal astigmatism)\n", + " \n", + " \n", + " A type of refractive error related abnormal curvatures on the anterior or posterior surface of the cornea.\n", + " definition of HP:0025612 (Corneal astigmatism)\n", + " \n", + " \n", + " Socially inappropriate behavior\n", + " definition of HP:0030220 (Socially inappropriate behavior)\n", + " \n", + " \n", + " Behavior that is not in line with social norms.\n", + " definition of HP:0030220 (Socially inappropriate behavior)\n", + " \n", + " \n", + " #Socially inappropriate behavior #Socially inappropriate behaviour\n", + " definition of HP:0030220 (Socially inappropriate behavior)\n", + " \n", + " \n", + " Ectopic tooth eruption\n", + " definition of HP:4000093 (Ectopic tooth eruption)\n", + " \n", + " \n", + " A condition in which the permanent teeth, because of deficiency of growth in the jaw or segment of jaw, assume a path of eruption that intercepts a primary tooth, causes its premature loss and produces a consequent malposition of the permanent tooth.\n", + " definition of HP:4000093 (Ectopic tooth eruption)\n", + " \n", + " \n", + " Anejaculation\n", + " definition of HP:0012879 (Anejaculation)\n", + " \n", + " \n", + " Inability to ejaculate.\n", + " definition of HP:0012879 (Anejaculation)\n", + " \n", + " \n", + " #Ejaculatory incompetence\n", + " definition of HP:0012879 (Anejaculation)\n", + " \n", + " \n", + " Congenital lactic acidosis\n", + " definition of HP:0004902 (Congenital lactic acidosis)\n", + " \n", + " \n", + " A form of lactic acidemia with congenital onset.\n", + " definition of HP:0004902 (Congenital lactic acidosis)\n", + " \n", + " \n", + " Decreased urinary uromodulin level\n", + " definition of HP:0034886 (Decreased urinary uromodulin level)\n", + " \n", + " \n", + " The concentration of uromodulin (also known as Tamm Horsfall protein) in the urine, normalized for urine concentration, is below the lower limit of normal.\n", + " definition of HP:0034886 (Decreased urinary uromodulin level)\n", + " \n", + " \n", + " #Uromodulin low in urine\n", + " definition of HP:0034886 (Decreased urinary uromodulin level)\n", + " \n", + " \n", + " Anasarca\n", + " definition of HP:0012050 (Anasarca)\n", + " \n", + " \n", + " An extreme form of generalized edema with widespread and massive edema due to effusion of fluid into the extracellular space.\n", + " definition of HP:0012050 (Anasarca)\n", + " \n", + " \n", + " #Extreme generalised oedema #Extreme generalized edema\n", + " definition of HP:0012050 (Anasarca)\n", + " \n", + " \n", + " EEG with central epileptiform discharges\n", + " definition of HP:0033718 (EEG with central epileptiform discharges)\n", + " \n", + " \n", + " Focal epileptiform EEG discharges recorded in the central region.\n", + " definition of HP:0033718 (EEG with central epileptiform discharges)\n", + " \n", + " \n", + " Abnormal optical coherence tomography\n", + " definition of HP:0030603 (Abnormal optical coherence tomography)\n", + " \n", + " \n", + " Posterior radial head dislocation\n", + " definition of HP:0005798 (Posterior radial head dislocation)\n", + " \n", + " \n", + " A dislocation of the head of the radius from its socket in the elbow joint in an posterior direction.\n", + " definition of HP:0005798 (Posterior radial head dislocation)\n", + " \n", + " \n", + " Anterior basal encephalocele\n", + " definition of HP:0006992 (Anterior basal encephalocele)\n", + " \n", + " \n", + " Reduced tissue phosphorylase kinase activity\n", + " definition of HP:6000832 (Reduced tissue phosphorylase kinase activity)\n", + " \n", + " \n", + " Concentration or activity of phosphorylase kinase below the lower limit of normal. This enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts.\n", + " definition of HP:6000832 (Reduced tissue phosphorylase kinase activity)\n", + " \n", + " \n", + " Focal aware cognitive seizure with illusion\n", + " definition of HP:0032704 (Focal aware cognitive seizure with illusion)\n", + " \n", + " \n", + " A focal cognitive seizure with illusion characterized by retained awareness throughout the seizure.\n", + " definition of HP:0032704 (Focal aware cognitive seizure with illusion)\n", + " \n", + " \n", + " Large tarsal bones\n", + " definition of HP:0004679 (Large tarsal bones)\n", + " \n", + " \n", + " #Large ankle bones\n", + " definition of HP:0004679 (Large tarsal bones)\n", + " \n", + " \n", + " Total intestinal aganglionosis\n", + " definition of HP:0005241 (Total intestinal aganglionosis)\n", + " \n", + " \n", + " A congenital defect characterized by the lack of ganglion cells in the entire intestine, i.e., the aganglionic segment comprises the entire large and small bowel.\n", + " definition of HP:0005241 (Total intestinal aganglionosis)\n", + " \n", + " \n", + " Anomalous pulmonary venous return\n", + " definition of HP:0010772 (Anomalous pulmonary venous return)\n", + " \n", + " \n", + " A developmental defect characterized by abnormal connection of one or more pulmonary veins to the superior or inferior vena cava, the right atrium, or the coronary sinus, resulting in a left-to-right shunt of oxygenated blood.\n", + " definition of HP:0010772 (Anomalous pulmonary venous return)\n", + " \n", + " \n", + " Spermiation failure\n", + " definition of HP:0034812 (Spermiation failure)\n", + " \n", + " \n", + " Spermiation failure is indicated by apparently normal spermiogenesis, but the presence of retained Sd2 spermatids in stages III-V of human spermatogenesis, whereas maturation arrest is indicated by a lack of late Sd1 and Sd2 spermatids in the epithelium.\n", + " definition of HP:0034812 (Spermiation failure)\n", + " \n", + " \n", + " Renal diverticulum\n", + " definition of HP:0100877 (Renal diverticulum)\n", + " \n", + " \n", + " Cystic, urine-containing intrarenal cavities lined with transitional cell epithelium that communicate through a narrow channel with the collecting system.\n", + " definition of HP:0100877 (Renal diverticulum)\n", + " \n", + " \n", + " #Caliceal diverticulum #Pelvic diverticulum #Renal pelvic diverticulum\n", + " definition of HP:0100877 (Renal diverticulum)\n", + " \n", + " \n", + " Partial duplication of the middle phalanx of the 4th finger\n", + " definition of HP:0009982 (Partial duplication of the middle phalanx of the 4th finger)\n", + " \n", + " \n", + " Partial duplication of the middle phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx.\n", + " definition of HP:0009982 (Partial duplication of the middle phalanx of the 4th finger)\n", + " \n", + " \n", + " #Partial duplication of the middle bone of the ring finger\n", + " definition of HP:0009982 (Partial duplication of the middle phalanx of the 4th finger)\n", + " \n", + " \n", + " Abnormal form of the vertebral bodies\n", + " definition of HP:0003312 (Abnormal form of the vertebral bodies)\n", + " \n", + " \n", + " Abnormal morphology of vertebral body.\n", + " definition of HP:0003312 (Abnormal form of the vertebral bodies)\n", + " \n", + " \n", + " #Abnormal vertebral bodies #Abnormally shaped vertebrae\n", + " definition of HP:0003312 (Abnormal form of the vertebral bodies)\n", + " \n", + " \n", + " Prolonged partial thromboplastin time\n", + " definition of HP:0003645 (Prolonged partial thromboplastin time)\n", + " \n", + " \n", + " Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms.\n", + " definition of HP:0003645 (Prolonged partial thromboplastin time)\n", + " \n", + " \n", + " #Abnormal partial thromboplastin time #Delayed thromboplastin generation #Partial thromboplastin time prolonged #Prolonged activated partial thromboplastin time #Prolonged PTT\n", + " definition of HP:0003645 (Prolonged partial thromboplastin time)\n", + " \n", + " \n", + " Heparin-induced thrombocytopenia\n", + " definition of HP:0011874 (Heparin-induced thrombocytopenia)\n", + " \n", + " \n", + " Low platelet count following administration of unfractionated or (less commonly) low-molecular weight heparin.\n", + " definition of HP:0011874 (Heparin-induced thrombocytopenia)\n", + " \n", + " \n", + " Stippling of the epiphysis of the middle phalanx of the 5th finger\n", + " definition of HP:0009212 (Stippling of the epiphysis of the middle phalanx of the 5th finger)\n", + " \n", + " \n", + " The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 5th finger.\n", + " definition of HP:0009212 (Stippling of the epiphysis of the middle phalanx of the 5th finger)\n", + " \n", + " \n", + " #Speckled calcifications in end part of the middle bone of the little finger #Speckled calcifications in end part of the middle bone of the pinkie finger #Speckled calcifications in end part of the middle bone of the pinky finger\n", + " definition of HP:0009212 (Stippling of the epiphysis of the middle phalanx of the 5th finger)\n", + " \n", + " \n", + " Polydactyly\n", + " definition of HP:0010442 (Polydactyly)\n", + " \n", + " \n", + " A congenital anomaly characterized by the presence of supernumerary fingers or toes.\n", + " definition of HP:0010442 (Polydactyly)\n", + " \n", + " \n", + " #More than five fingers or toes on hands or feet\n", + " definition of HP:0010442 (Polydactyly)\n", + " \n", + " \n", + " Hyperpigmentation of the fundus\n", + " definition of HP:0011512 (Hyperpigmentation of the fundus)\n", + " \n", + " \n", + " Increased pigmentation of the fundus\n", + " definition of HP:0011512 (Hyperpigmentation of the fundus)\n", + " \n", + " \n", + " #Hyperpigmented fundi #Hyperpigmented fundus\n", + " definition of HP:0011512 (Hyperpigmentation of the fundus)\n", + " \n", + " \n", + " Triggered by extension of leg\n", + " definition of HP:6000066 (Triggered by extension of leg)\n", + " \n", + " \n", + " This term refers to pain that is triggered by extending (straightening) the leg.\n", + " definition of HP:6000066 (Triggered by extension of leg)\n", + " \n", + " \n", + " #Straight leg raising produces pain\n", + " definition of HP:6000066 (Triggered by extension of leg)\n", + " \n", + " \n", + " Proximal placement of thumb\n", + " definition of HP:0009623 (Proximal placement of thumb)\n", + " \n", + " \n", + " Proximal mislocalization of the thumb.\n", + " definition of HP:0009623 (Proximal placement of thumb)\n", + " \n", + " \n", + " #Attachment of thumb close to wrist #Low implantation of the thumb #Low-set thumb #Proximally placed thumbs\n", + " definition of HP:0009623 (Proximal placement of thumb)\n", + " \n", + " \n", + " Diastolic heart murmur\n", + " definition of HP:0031668 (Diastolic heart murmur)\n", + " \n", + " \n", + " A heart murmur that occurs during diastole, i.e., in the time between S2 and the subsequent S1.\n", + " definition of HP:0031668 (Diastolic heart murmur)\n", + " \n", + " \n", + " Abnormality of the hairline\n", + " definition of HP:0009553 (Abnormality of the hairline)\n", + " \n", + " \n", + " The hairline refers to the outline of hair of the head. An abnormality of the hairline can refer to an unusually low or high border between areas of the scalp with and without hair or to abnormal projections of scalp hair.\n", + " definition of HP:0009553 (Abnormality of the hairline)\n", + " \n", + " \n", + " #Abnormality of the hairline\n", + " definition of HP:0009553 (Abnormality of the hairline)\n", + " \n", + " \n", + " History of radiation therapy\n", + " definition of HP:6000181 (History of radiation therapy)\n", + " \n", + " \n", + " A medical history of having undergone radiation therapy, which is a treatment that uses ionizing radiation for purposes such as the control the growth of malignant cells in cancer treatment.\n", + " definition of HP:6000181 (History of radiation therapy)\n", + " \n", + " \n", + " Abnormality of the ovary\n", + " definition of HP:0000137 (Abnormality of the ovary)\n", + " \n", + " \n", + " An abnormality of the ovary.\n", + " definition of HP:0000137 (Abnormality of the ovary)\n", + " \n", + " \n", + " #Abnormality of the ovaries #Abnormality of the ovary\n", + " definition of HP:0000137 (Abnormality of the ovary)\n", + " \n", + " \n", + " Ectopic kidney\n", + " definition of HP:0000086 (Ectopic kidney)\n", + " \n", + " \n", + " A developmental defect in which a kidney is located in an abnormal anatomic position.\n", + " definition of HP:0000086 (Ectopic kidney)\n", + " \n", + " \n", + " #Abnormal kidney location #Displaced kidney #Ectopic kidneys #Renal ectopia\n", + " definition of HP:0000086 (Ectopic kidney)\n", + " \n", + " \n", + " Suicidal ideation\n", + " definition of HP:0031589 (Suicidal ideation)\n", + " \n", + " \n", + " Frequent thoughts about or preoccupation with killing oneself.\n", + " definition of HP:0031589 (Suicidal ideation)\n", + " \n", + " \n", + " #Suicidal perseveration #Suicidality\n", + " definition of HP:0031589 (Suicidal ideation)\n", + " \n", + " \n", + " External ophthalmoplegia\n", + " definition of HP:0000544 (External ophthalmoplegia)\n", + " \n", + " \n", + " Paralysis of the external ocular muscles.\n", + " definition of HP:0000544 (External ophthalmoplegia)\n", + " \n", + " \n", + " #Chronic progressive external ophthalmoplegia #CPEO #Ophthalmoplegia externa #Paralysis or weakness of muscles within or surrounding outer part of eye #Progressive paralysis or weakness of muscles of eye motility #Progressive paralysis or weakness of muscles of eye movement\n", + " definition of HP:0000544 (External ophthalmoplegia)\n", + " \n", + " \n", + " Pharyngeal edema\n", + " definition of HP:0011855 (Pharyngeal edema)\n", + " \n", + " \n", + " Abnormal accumulation of fluid leading to swelling of the pharynx.\n", + " definition of HP:0011855 (Pharyngeal edema)\n", + " \n", + " \n", + " #Pharyngeal oedema #Swollen throat #Throat swelling\n", + " definition of HP:0011855 (Pharyngeal edema)\n", + " \n", + " \n", + " Neuromuscular dysphagia\n", + " definition of HP:0002068 (Neuromuscular dysphagia)\n", + " \n", + " \n", + " Respiratory acidosis\n", + " definition of HP:0005972 (Respiratory acidosis)\n", + " \n", + " \n", + " Acidosis because of respiratory retention of carbon dioxide.\n", + " definition of HP:0005972 (Respiratory acidosis)\n", + " \n", + " \n", + " Coat hanger sign of ribs\n", + " definition of HP:0006665 (Coat hanger sign of ribs)\n", + " \n", + " \n", + " An abnormal morphology of the ribs consisting of shorted, abnormally curved ribs. On posteroanterior chest radiography, the ribs show a curvature resembling that of a coat hanger (clothes hanger).\n", + " definition of HP:0006665 (Coat hanger sign of ribs)\n", + " \n", + " \n", + " #Coat hanger sign of ribs\n", + " definition of HP:0006665 (Coat hanger sign of ribs)\n", + " \n", + " \n", + " Neoplasm of the liver\n", + " definition of HP:0002896 (Neoplasm of the liver)\n", + " \n", + " \n", + " A tumor (abnormal growth of tissue) of the liver.\n", + " definition of HP:0002896 (Neoplasm of the liver)\n", + " \n", + " \n", + " #Liver cancer #Liver tumor #Liver tumour\n", + " definition of HP:0002896 (Neoplasm of the liver)\n", + " \n", + " \n", + " Congenital atrioventricular dissociation\n", + " definition of HP:0004752 (Congenital atrioventricular dissociation)\n", + " \n", + " \n", + " A form of atrioventricular (AV) dissociation (i.e., the atria and the ventricles are under the control of two separate pacemakers) with congenital onset.\n", + " definition of HP:0004752 (Congenital atrioventricular dissociation)\n", + " \n", + " \n", + " Absent coronary sinus\n", + " definition of HP:0031783 (Absent coronary sinus)\n", + " \n", + " \n", + " A developmental defect in which the coronary sinus fails to form.\n", + " definition of HP:0031783 (Absent coronary sinus)\n", + " \n", + " \n", + " Reduced epidermal keratin 10 protein expression\n", + " definition of HP:0034574 (Reduced epidermal keratin 10 protein expression)\n", + " \n", + " \n", + " Amount of keratin 10 in the epidermis below the lower limit of normal. The findiong is typically ascertained by immunofluorescent microscopy.\n", + " definition of HP:0034574 (Reduced epidermal keratin 10 protein expression)\n", + " \n", + " \n", + " Bifid uterus\n", + " definition of HP:0000136 (Bifid uterus)\n", + " \n", + " \n", + " The presence of a bifid uterus.\n", + " definition of HP:0000136 (Bifid uterus)\n", + " \n", + " \n", + " Nuclear punctate cataract\n", + " definition of HP:0010925 (Nuclear punctate cataract)\n", + " \n", + " \n", + " Complete duplication of the distal phalanx of the 4th toe\n", + " definition of HP:0100408 (Complete duplication of the distal phalanx of the 4th toe)\n", + " \n", + " \n", + " Complete duplication of the distal phalanx of fourth toe.\n", + " definition of HP:0100408 (Complete duplication of the distal phalanx of the 4th toe)\n", + " \n", + " \n", + " #Complete duplication of the distal phalanx of the fourth toe #Complete duplication of the outermost bone of the 4th toe\n", + " definition of HP:0100408 (Complete duplication of the distal phalanx of the 4th toe)\n", + " \n", + " \n", + " Elevated creatine kinase after exercise\n", + " definition of HP:0008331 (Elevated creatine kinase after exercise)\n", + " \n", + " \n", + " #Elevated CK after exercise #Elevated CPK after exercise #Elevated creatine phosphokinase after exercise #Elevated phospho-CK after exercise #Elevated phospho-creatine kinase after exercise #Increased CK after exercise #Increased creatine kinase after exercise #Increased creatine phosphokinase after exercise #Increased phospho-CK after exercise #Increased phospho-creatine kinase after exercise\n", + " definition of HP:0008331 (Elevated creatine kinase after exercise)\n", + " \n", + " \n", + " Necrolytic migratory erythema\n", + " definition of HP:0031181 (Necrolytic migratory erythema)\n", + " \n", + " \n", + " Acral or periorificial lesions that evolve in recurrent crops, with an annular and migratory distribution.\n", + " definition of HP:0031181 (Necrolytic migratory erythema)\n", + " \n", + " \n", + " Reduced muscle fiber gamma sarcoglycan\n", + " definition of HP:0030108 (Reduced muscle fiber gamma sarcoglycan)\n", + " \n", + " \n", + " Immunohistochemistry reveals reduced gamma sarcoglycan protein in the muscle biopsy.\n", + " definition of HP:0030108 (Reduced muscle fiber gamma sarcoglycan)\n", + " \n", + " \n", + " #Reduced muscle fibre gamma sarcoglycan\n", + " definition of HP:0030108 (Reduced muscle fiber gamma sarcoglycan)\n", + " \n", + " \n", + " Facial wrinkling\n", + " definition of HP:0009762 (Facial wrinkling)\n", + " \n", + " \n", + " Excessive wrinkling of the skin of the face.\n", + " definition of HP:0009762 (Facial wrinkling)\n", + " \n", + " \n", + " #Facial wrinkling\n", + " definition of HP:0009762 (Facial wrinkling)\n", + " \n", + " \n", + " Cobblestone-like hyperkeratosis\n", + " definition of HP:0031288 (Cobblestone-like hyperkeratosis)\n", + " \n", + " \n", + " The presence of verrucous, cobblestone-like papules and nodules in a region of skin that is said to have an appearance like that of cobblestones.\n", + " definition of HP:0031288 (Cobblestone-like hyperkeratosis)\n", + " \n", + " \n", + " Increased proportion of central memory CD4-positive, alpha-beta T cells\n", + " definition of HP:0410393 (Increased proportion of central memory CD4-positive, alpha-beta T cells)\n", + " \n", + " \n", + " An abnormally elevated proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.\n", + " definition of HP:0410393 (Increased proportion of central memory CD4-positive, alpha-beta T cells)\n", + " \n", + " \n", + " #Elevated proportion central memory CD4-positive, alpha-beta T cells #Elevated proportion of CD4+ central memory cells #Increased proportion of CD4+ central memory cells #Increased proportion of central memory CD4+, alpha-beta T cell\n", + " definition of HP:0410393 (Increased proportion of central memory CD4-positive, alpha-beta T cells)\n", + " \n", + " \n", + " Elevated circulating 3-hydroxyisovalerylcarnitine concentration\n", + " definition of HP:0035028 (Elevated circulating 3-hydroxyisovalerylcarnitine concentration)\n", + " \n", + " \n", + " Concentration of 3-hydroxyisovalerylcarnitine in the blood circulation above the upper limit of normal.\n", + " definition of HP:0035028 (Elevated circulating 3-hydroxyisovalerylcarnitine concentration)\n", + " \n", + " \n", + " #Elevated circulating C5-OH acylcarnitine concentration\n", + " definition of HP:0035028 (Elevated circulating 3-hydroxyisovalerylcarnitine concentration)\n", + " \n", + " \n", + " Decreased anterioposterior diameter of lumbar vertebral bodies\n", + " definition of HP:0005638 (Decreased anterioposterior diameter of lumbar vertebral bodies)\n", + " \n", + " \n", + " Increased circulating nicotinurate level\n", + " definition of HP:0410206 (Increased circulating nicotinurate level)\n", + " \n", + " \n", + " An increased amount of nicotinurate in the blood.\n", + " definition of HP:0410206 (Increased circulating nicotinurate level)\n", + " \n", + " \n", + " #Increased circulating N-nicotinoylglycine level\n", + " definition of HP:0410206 (Increased circulating nicotinurate level)\n", + " \n", + " \n", + " Retinal cavernous hemangioma\n", + " definition of HP:0011513 (Retinal cavernous hemangioma)\n", + " \n", + " \n", + " A benign tumor of the retina that appears as a grouping of blood-filled saccules within the inner retinal layers or on the surface of the optic disc. Retinal cavernous angioma are described as having a 'cluster of grapes' appearance.\n", + " definition of HP:0011513 (Retinal cavernous hemangioma)\n", + " \n", + " \n", + " #Retinal cavernous angioma #Retinal cavernous haemangioma\n", + " definition of HP:0011513 (Retinal cavernous hemangioma)\n", + " \n", + " \n", + " Anti-babesia-specific antibody positivity\n", + " definition of HP:0430065 (Anti-babesia-specific antibody positivity)\n", + " \n", + " \n", + " The presence of antibodies in the blood circulation that react against a component of a parasite of the genus Babesia (parasite).\n", + " definition of HP:0430065 (Anti-babesia-specific antibody positivity)\n", + " \n", + " \n", + " Emotional insecurity\n", + " definition of HP:0033625 (Emotional insecurity)\n", + " \n", + " \n", + " A feeling of general unease or nervousness that may be triggered by a sense of vulnerability or instability, which is perceived as threatening.\n", + " definition of HP:0033625 (Emotional insecurity)\n", + " \n", + " \n", + " Focal impaired awareness cognitive seizure with expressive dysphasia/aphasia\n", + " definition of HP:0032886 (Focal impaired awareness cognitive seizure with expressive dysphasia/aphasia)\n", + " \n", + " \n", + " A focal cognitive seizure with expressive dysphasia / aphasia characterized by impairment of awareness at some point during the seizure.\n", + " definition of HP:0032886 (Focal impaired awareness cognitive seizure with expressive dysphasia/aphasia)\n", + " \n", + " \n", + " Pulmonary arterial plexiform lesion\n", + " definition of HP:0033420 (Pulmonary arterial plexiform lesion)\n", + " \n", + " \n", + " Focal proliferation of pulmonary artery endothelial cells, leading to the formation of complex capillary-like channels.\n", + " definition of HP:0033420 (Pulmonary arterial plexiform lesion)\n", + " \n", + " \n", + " Periodic hypokalemic paresis\n", + " definition of HP:0008153 (Periodic hypokalemic paresis)\n", + " \n", + " \n", + " Episodes of muscle weakness associated with reduced levels of potassium in the blood.\n", + " definition of HP:0008153 (Periodic hypokalemic paresis)\n", + " \n", + " \n", + " #Hypokalemic periodic paresis\n", + " definition of HP:0008153 (Periodic hypokalemic paresis)\n", + " \n", + " \n", + " Progressive visual field defects\n", + " definition of HP:0007987 (Progressive visual field defects)\n", + " \n", + " \n", + " Increased density of long bones\n", + " definition of HP:0006392 (Increased density of long bones)\n", + " \n", + " \n", + " An abnormal increase in the bone density of the long bones.\n", + " definition of HP:0006392 (Increased density of long bones)\n", + " \n", + " \n", + " #Increased density of long bones\n", + " definition of HP:0006392 (Increased density of long bones)\n", + " \n", + " \n", + " Impaired distal tactile sensation\n", + " definition of HP:0006937 (Impaired distal tactile sensation)\n", + " \n", + " \n", + " A reduced sense of touch (tactile sensation) on the skin of the distal limbs. This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus.\n", + " definition of HP:0006937 (Impaired distal tactile sensation)\n", + " \n", + " \n", + " #Decreased distal touch sense #Decreased touch sensation in extremities\n", + " definition of HP:0006937 (Impaired distal tactile sensation)\n", + " \n", + " \n", + " Duplication of metatarsal bones\n", + " definition of HP:0001449 (Duplication of metatarsal bones)\n", + " \n", + " \n", + " #Duplication of long bones of foot\n", + " definition of HP:0001449 (Duplication of metatarsal bones)\n", + " \n", + " \n", + " Long umbilical cord\n", + " definition of HP:0011417 (Long umbilical cord)\n", + " \n", + " \n", + " Increased length of the umbilical cord.\n", + " definition of HP:0011417 (Long umbilical cord)\n", + " \n", + " \n", + " #Long umbilical cord\n", + " definition of HP:0011417 (Long umbilical cord)\n", + " \n", + " \n", + " Ventricular septal hypertrophy\n", + " definition of HP:0005144 (Ventricular septal hypertrophy)\n", + " \n", + " \n", + " The dividing wall between left and right sides of the heart, thickens and bulges into the left ventricle.\n", + " definition of HP:0005144 (Ventricular septal hypertrophy)\n", + " \n", + " \n", + " #Thickened interventricular septum\n", + " definition of HP:0005144 (Ventricular septal hypertrophy)\n", + " \n", + " \n", + " Empty sella turcica\n", + " definition of HP:6000483 (Empty sella turcica)\n", + " \n", + " \n", + " Empty sella or arachnoidocele has been defined as the herniation of the subarachnoid space within the sella turcica, associated with elongated pituitary stalk and flattening of the pituitary gland.\n", + " definition of HP:6000483 (Empty sella turcica)\n", + " \n", + " \n", + " #Arachnoidocele\n", + " definition of HP:6000483 (Empty sella turcica)\n", + " \n", + " \n", + " Triangular epiphysis\n", + " definition of HP:0010587 (Triangular epiphysis)\n", + " \n", + " \n", + " Longitudinal epiphyseal bracket or bracket epiphysis is an uncommon disorder of growth. Alternatively known as a delta phalanx, it is due to an anomalous secondary ossification center that extends longitudinally along the diaphysis. Although rare, longitudinal epiphyseal bracket most commonly manifests in the hands as clinodactyly and in the feet as hallux varus.\n", + " definition of HP:0010587 (Triangular epiphysis)\n", + " \n", + " \n", + " #Longitudinal epiphyseal bracket #Triangular end part of bone #Triangular epiphyses\n", + " definition of HP:0010587 (Triangular epiphysis)\n", + " \n", + " \n", + " Cone-shaped epiphysis of the distal phalanx of the thumb\n", + " definition of HP:0009677 (Cone-shaped epiphysis of the distal phalanx of the thumb)\n", + " \n", + " \n", + " A cone-shaped appearance of the epiphysis of the distal phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.\n", + " definition of HP:0009677 (Cone-shaped epiphysis of the distal phalanx of the thumb)\n", + " \n", + " \n", + " #Cone-shaped end part of thumb outermost long bone #Cone-shaped terminal thumb phalanx epiphysis\n", + " definition of HP:0009677 (Cone-shaped epiphysis of the distal phalanx of the thumb)\n", + " \n", + " \n", + " Cortical thinning of hand bones\n", + " definition of HP:0004272 (Cortical thinning of hand bones)\n", + " \n", + " \n", + " Long thumb\n", + " definition of HP:0032524 (Long thumb)\n", + " \n", + " \n", + " Length of the thumb is greater than normal.\n", + " definition of HP:0032524 (Long thumb)\n", + " \n", + " \n", + " Paravertebral mass\n", + " definition of HP:6000660 (Paravertebral mass)\n", + " \n", + " \n", + " A swelling or enlargement localized next to the vertebral column. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.\n", + " definition of HP:6000660 (Paravertebral mass)\n", + " \n", + " \n", + " Giant cell tumor of bone\n", + " definition of HP:0011847 (Giant cell tumor of bone)\n", + " \n", + " \n", + " A bone tumor composed of cellular spindle-cell stroma containing scattered multinucleated giant cells resembling osteoclasts.\n", + " definition of HP:0011847 (Giant cell tumor of bone)\n", + " \n", + " \n", + " #Giant cell tumour of bone\n", + " definition of HP:0011847 (Giant cell tumor of bone)\n", + " \n", + " \n", + " Duplication of the distal phalanx of the 2nd toe\n", + " definition of HP:0010421 (Duplication of the distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Partial or complete duplication of the distal phalanx of second toe.\n", + " definition of HP:0010421 (Duplication of the distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Duplication of the outermost bone of the 2nd toe #Partial/complete duplication of the distal phalanx of the 2nd toe\n", + " definition of HP:0010421 (Duplication of the distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Intermittent jaundice\n", + " definition of HP:0001046 (Intermittent jaundice)\n", + " \n", + " \n", + " Jaundice that is sometimes present, sometimes not.\n", + " definition of HP:0001046 (Intermittent jaundice)\n", + " \n", + " \n", + " #Intermittent icterus #Intermittent yellow skin #Intermittent yellowing of skin\n", + " definition of HP:0001046 (Intermittent jaundice)\n", + " \n", + " \n", + " Decreased circulating complement C5 concentration\n", + " definition of HP:0033060 (Decreased circulating complement C5 concentration)\n", + " \n", + " \n", + " Concentration of the complement component C5 in the blood circulation below the lower limit of normal.\n", + " definition of HP:0033060 (Decreased circulating complement C5 concentration)\n", + " \n", + " \n", + " #Decreased serum complement C5\n", + " definition of HP:0033060 (Decreased circulating complement C5 concentration)\n", + " \n", + " \n", + " Silent hypoxemia\n", + " definition of HP:0034038 (Silent hypoxemia)\n", + " \n", + " \n", + " Abnormally low blood oxygen level without the presence of dyspnea.\n", + " definition of HP:0034038 (Silent hypoxemia)\n", + " \n", + " \n", + " Anti-Sm antibody positivity\n", + " definition of HP:0033040 (Anti-Sm antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies in the serum that react to seven proteins that consist of a core of small nuclear ribonucleoprotein (snRNP) particles.\n", + " definition of HP:0033040 (Anti-Sm antibody positivity)\n", + " \n", + " \n", + " #Anti-Smith autoantibody\n", + " definition of HP:0033040 (Anti-Sm antibody positivity)\n", + " \n", + " \n", + " Pulmonary situs ambiguus with bilateral morphologic left lungs\n", + " definition of HP:0011619 (Pulmonary situs ambiguus with bilateral morphologic left lungs)\n", + " \n", + " \n", + " An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which both lungs have the morphology of a left lung.\n", + " definition of HP:0011619 (Pulmonary situs ambiguus with bilateral morphologic left lungs)\n", + " \n", + " \n", + " Type 2 congenital pulmonary airway malformation\n", + " definition of HP:0025726 (Type 2 congenital pulmonary airway malformation)\n", + " \n", + " \n", + " A type of congenital pulmonary airway malformation that is characterized by multiple evenly spaced cysts (sponge-like appearance).\n", + " definition of HP:0025726 (Type 2 congenital pulmonary airway malformation)\n", + " \n", + " \n", + " Biventricular noncompaction cardiomyopathy\n", + " definition of HP:0012818 (Biventricular noncompaction cardiomyopathy)\n", + " \n", + " \n", + " Noncompaction cardiomyopathy that affects both ventricles.\n", + " definition of HP:0012818 (Biventricular noncompaction cardiomyopathy)\n", + " \n", + " \n", + " Abnormality of mentalis muscle\n", + " definition of HP:3000007 (Abnormality of mentalis muscle)\n", + " \n", + " \n", + " An abnormality of a mentalis muscle.\n", + " definition of HP:3000007 (Abnormality of mentalis muscle)\n", + " \n", + " \n", + " Low tissue ferrochelatase activity\n", + " definition of HP:6000697 (Low tissue ferrochelatase activity)\n", + " \n", + " \n", + " Concentration or activity of Ferrochelatase (FECH; EC 4.99.1.1) below the lower limit of normal. FECH enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts. FECH is the terminal enzyme of the heme biosynthetic pathway, and catalyzes the insertion of iron into protoporphyrin to form heme.\n", + " definition of HP:6000697 (Low tissue ferrochelatase activity)\n", + " \n", + " \n", + " Abnormal enteric ganglion morphology\n", + " definition of HP:0004362 (Abnormal enteric ganglion morphology)\n", + " \n", + " \n", + " An abnormality of the enteric nervous system, which comprises two types of ganglia, the myenteric (Auerbach's) and submucosal (Meissner's) plexuses. The enteric nervous system functions to control gut movement, fluid exchange between the gut and its lumen, and local blood flow.\n", + " definition of HP:0004362 (Abnormal enteric ganglion morphology)\n", + " \n", + " \n", + " #Abnormality of enteric ganglion morphology\n", + " definition of HP:0004362 (Abnormal enteric ganglion morphology)\n", + " \n", + " \n", + " Dyslexia\n", + " definition of HP:0010522 (Dyslexia)\n", + " \n", + " \n", + " A learning disorder characterized primarily by difficulties in learning to read and spell. Dyslectic children also exhibit a tendency to read words from right to left and to confuse letters such as b and d whose orientation is important for their identification. Children with dyslexia appear to be impaired in phonemic skills (the ability to associate visual symbols with the sounds they represent).\n", + " definition of HP:0010522 (Dyslexia)\n", + " \n", + " \n", + " #Reading disability\n", + " definition of HP:0010522 (Dyslexia)\n", + " \n", + " \n", + " Small epiphysis of the proximal phalanx of the 2nd toe\n", + " definition of HP:0100130 (Small epiphysis of the proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Small end part of the innermost bone of the 2nd toe\n", + " definition of HP:0100130 (Small epiphysis of the proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Abnormal circulating osteocalcin level\n", + " definition of HP:0031427 (Abnormal circulating osteocalcin level)\n", + " \n", + " \n", + " A deviation from the normal concentration of osteocalcin in the blood circulation.\n", + " definition of HP:0031427 (Abnormal circulating osteocalcin level)\n", + " \n", + " \n", + " Fetal intraventricular hemorrhage without ventriculomegaly\n", + " definition of HP:0034214 (Fetal intraventricular hemorrhage without ventriculomegaly)\n", + " \n", + " \n", + " A type of fetal intraventricular hemorrhage characterized by clear hemorrhage spillover to the ventricles filling less than 50% of the lateral ventricle and without ventriculomegaly of greater than 15 mm in the transverse diameter of the lateral ventricular atrium.\n", + " definition of HP:0034214 (Fetal intraventricular hemorrhage without ventriculomegaly)\n", + " \n", + " \n", + " #Grade II fetal intracranial hemorrhage #Grade II foetal intracranial haemorrhage\n", + " definition of HP:0034214 (Fetal intraventricular hemorrhage without ventriculomegaly)\n", + " \n", + " \n", + " Osteolytic defects of the phalanges of the 3rd finger\n", + " definition of HP:0009443 (Osteolytic defects of the phalanges of the 3rd finger)\n", + " \n", + " \n", + " Dissolution or degeneration of bone tissue of the phalanges of the 3rd finger.\n", + " definition of HP:0009443 (Osteolytic defects of the phalanges of the 3rd finger)\n", + " \n", + " \n", + " #Lytic defects of middle finger phalanges\n", + " definition of HP:0009443 (Osteolytic defects of the phalanges of the 3rd finger)\n", + " \n", + " \n", + " Increased circulating IgA concentration\n", + " definition of HP:0003261 (Increased circulating IgA concentration)\n", + " \n", + " \n", + " An abnormally increased level of immunoglobulin A in blood.\n", + " definition of HP:0003261 (Increased circulating IgA concentration)\n", + " \n", + " \n", + " #Elevated IgA #Elevated serum IgA #IgA hypergammaglobulinemia #Increased circulating IgA level #Increased levels of IgA #Increased serum IgA\n", + " definition of HP:0003261 (Increased circulating IgA concentration)\n", + " \n", + " \n", + " Hypoplastic-absent sebaceous glands\n", + " definition of HP:0007411 (Hypoplastic-absent sebaceous glands)\n", + " \n", + " \n", + " Decreased circulating luteinizing hormone level\n", + " definition of HP:0030344 (Decreased circulating luteinizing hormone level)\n", + " \n", + " \n", + " A reduction in the circulating level of luteinizing hormone (LH).\n", + " definition of HP:0030344 (Decreased circulating luteinizing hormone level)\n", + " \n", + " \n", + " #Decreased circulating luteinising hormone level\n", + " definition of HP:0030344 (Decreased circulating luteinizing hormone level)\n", + " \n", + " \n", + " Central Y-shaped metacarpal\n", + " definition of HP:0006145 (Central Y-shaped metacarpal)\n", + " \n", + " \n", + " A central Y-shaped metacarpal is the result of a partial fusion of two central metacarpals (i.e., metacarpals 2-4) of the hand, with the two arms of the Y pointing in the distal direction. Central Y-shaped metacarpals may be seen as a result of a central polydactyly with partial fusion of the duplicated metacarpal.\n", + " definition of HP:0006145 (Central Y-shaped metacarpal)\n", + " \n", + " \n", + " #Y-shaped central long bones of hand\n", + " definition of HP:0006145 (Central Y-shaped metacarpal)\n", + " \n", + " \n", + " Decreased nerve conduction velocity\n", + " definition of HP:0000762 (Decreased nerve conduction velocity)\n", + " \n", + " \n", + " A reduction in the speed at which electrical signals propagate along the axon of a neuron.\n", + " definition of HP:0000762 (Decreased nerve conduction velocity)\n", + " \n", + " \n", + " #Decreased NCV #Decreased nerve conduction velocities #Delayed nerve conduction velocity #Reduced nerve conduction velocities #Slow nerve conduction velocity #Slowed nerve conduction velocities\n", + " definition of HP:0000762 (Decreased nerve conduction velocity)\n", + " \n", + " \n", + " Infantile constant exotropia\n", + " definition of HP:0032009 (Infantile constant exotropia)\n", + " \n", + " \n", + " Constant exotropia occurring before 6 months of age.; often associated with a large angle of deviation and ocular/CNS abnormalities.\n", + " definition of HP:0032009 (Infantile constant exotropia)\n", + " \n", + " \n", + " #Infantile (constant) exotropia\n", + " definition of HP:0032009 (Infantile constant exotropia)\n", + " \n", + " \n", + " Inability to puff cheeks\n", + " definition of HP:6001102 (Inability to puff cheeks)\n", + " \n", + " \n", + " Reduced ability to inflate the cheeks by blowing air into them while keeping the lips closed.\n", + " definition of HP:6001102 (Inability to puff cheeks)\n", + " \n", + " \n", + " Diminishment of sexual behavior\n", + " definition of HP:5200327 (Diminishment of sexual behavior)\n", + " \n", + " \n", + " A reduction of libido (sexual desire), typically accompanied by a reduction in the frequency of sexual activity , and/or activity compared to the affected individual's previous state.\n", + " definition of HP:5200327 (Diminishment of sexual behavior)\n", + " \n", + " \n", + " #Decreased sexual behavior #Decreased sexual behaviour #Hyposexuality\n", + " definition of HP:5200327 (Diminishment of sexual behavior)\n", + " \n", + " \n", + " Thumb hypoplasia grade 3B\n", + " definition of HP:6000941 (Thumb hypoplasia grade 3B)\n", + " \n", + " \n", + " A type of developmental undergrowth of the thumb, whereby there are musculotendinous and osseous deficiencies characterized by basal metacarpal aplasia with deficient carpometacarpal (CMC) joint, and absence of metacarpophalangeal (MCP) or interphalangeal (IP) joint.\n", + " definition of HP:6000941 (Thumb hypoplasia grade 3B)\n", + " \n", + " \n", + " #Hypoplasia of the thumb grade IIIB\n", + " definition of HP:6000941 (Thumb hypoplasia grade 3B)\n", + " \n", + " \n", + " Abnormality of DNA repair\n", + " definition of HP:0003254 (Abnormality of DNA repair)\n", + " \n", + " \n", + " An abnormality of the process of DNA repair, that is, of the process of restoring DNA after damage.\n", + " definition of HP:0003254 (Abnormality of DNA repair)\n", + " \n", + " \n", + " Best corrected visual acuity 1.0 LogMAR\n", + " definition of HP:0030563 (Best corrected visual acuity 1.0 LogMAR)\n", + " \n", + " \n", + " Asymmetric blood pressure between limbs\n", + " definition of HP:0025749 (Asymmetric blood pressure between limbs)\n", + " \n", + " \n", + " A substantial difference in blood pressure (e.g., 20 mmHg) between the right and left limb (arm or leg or both).\n", + " definition of HP:0025749 (Asymmetric blood pressure between limbs)\n", + " \n", + " \n", + " Decreased cystatin C level\n", + " definition of HP:0032997 (Decreased cystatin C level)\n", + " \n", + " \n", + " A decreased concentration of cystatin C in the blood circulation.\n", + " definition of HP:0032997 (Decreased cystatin C level)\n", + " \n", + " \n", + " Rectovaginal fistula\n", + " definition of HP:0000143 (Rectovaginal fistula)\n", + " \n", + " \n", + " The presence of a fistula between the vagina and the rectum.\n", + " definition of HP:0000143 (Rectovaginal fistula)\n", + " \n", + " \n", + " #Abnormal connection between rectum and vagina\n", + " definition of HP:0000143 (Rectovaginal fistula)\n", + " \n", + " \n", + " Underdeveloped nasolabial fold\n", + " definition of HP:0010801 (Underdeveloped nasolabial fold)\n", + " \n", + " \n", + " Reduced bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion or commissure).\n", + " definition of HP:0010801 (Underdeveloped nasolabial fold)\n", + " \n", + " \n", + " #Flat nasolabial fold #Nasolabial crease, hypoplastic #Nasolabial crease, underdeveloped #Nasolabial fold, hypoplastic #Shallow nasolabial fold\n", + " definition of HP:0010801 (Underdeveloped nasolabial fold)\n", + " \n", + " \n", + " Dilatation of superior mesenteric artery\n", + " definition of HP:0100859 (Dilatation of superior mesenteric artery)\n", + " \n", + " \n", + " Abnormal outpouching or sac-like dilatation in the wall of the superior mesenteric artery .\n", + " definition of HP:0100859 (Dilatation of superior mesenteric artery)\n", + " \n", + " \n", + " Sixth cranial nerve hypoplasia\n", + " definition of HP:6000596 (Sixth cranial nerve hypoplasia)\n", + " \n", + " \n", + " Underdevelopment of the six cranial nerve (abducens nerve).\n", + " definition of HP:6000596 (Sixth cranial nerve hypoplasia)\n", + " \n", + " \n", + " Stage 4 chronic kidney disease\n", + " definition of HP:0012626 (Stage 4 chronic kidney disease)\n", + " \n", + " \n", + " A type of chronic kidney disease with severely reduced glomerular filtration rate (GFR 15-29 mL/min/1.73 m2).\n", + " definition of HP:0012626 (Stage 4 chronic kidney disease)\n", + " \n", + " \n", + " #Stage 4 chronic kidney disease\n", + " definition of HP:0012626 (Stage 4 chronic kidney disease)\n", + " \n", + " \n", + " Abnormal respiratory system morphology\n", + " definition of HP:0012252 (Abnormal respiratory system morphology)\n", + " \n", + " \n", + " A structural anomaly of the respiratory system.\n", + " definition of HP:0012252 (Abnormal respiratory system morphology)\n", + " \n", + " \n", + " Tubulointerstitial mycobacterial infiltration\n", + " definition of HP:0032610 (Tubulointerstitial mycobacterial infiltration)\n", + " \n", + " \n", + " Renal tubulointerstitial infiltration of mycobacteria identified on acid-fast or Fite stains. Can be associated with granulomatous inflammation.\n", + " definition of HP:0032610 (Tubulointerstitial mycobacterial infiltration)\n", + " \n", + " \n", + " #Renal tubulointerstitial mycobacterial organisms\n", + " definition of HP:0032610 (Tubulointerstitial mycobacterial infiltration)\n", + " \n", + " \n", + " Abnormal cerebellar cortex morphology\n", + " definition of HP:0031422 (Abnormal cerebellar cortex morphology)\n", + " \n", + " \n", + " Any structural anomaly of the cortex of the cerebellum.\n", + " definition of HP:0031422 (Abnormal cerebellar cortex morphology)\n", + " \n", + " \n", + " #Abnormal morphology of the cerebellar cortex\n", + " definition of HP:0031422 (Abnormal cerebellar cortex morphology)\n", + " \n", + " \n", + " Insect bite allergy\n", + " definition of HP:0410339 (Insect bite allergy)\n", + " \n", + " \n", + " Hypersensitivity in form of an adverse immune reaction against insect bites.\n", + " definition of HP:0410339 (Insect bite allergy)\n", + " \n", + " \n", + " #Allergy to insect bites #IgE-mediated insect bite allergy #Immunoglobulin E-mediated insect bite allergy #Insect bite allergy\n", + " definition of HP:0410339 (Insect bite allergy)\n", + " \n", + " \n", + " Abnormal oral morphology\n", + " definition of HP:0031816 (Abnormal oral morphology)\n", + " \n", + " \n", + " Any structural anomaly of the mouth, which is also known as the oral cavity.\n", + " definition of HP:0031816 (Abnormal oral morphology)\n", + " \n", + " \n", + " Perioral spasm\n", + " definition of HP:0031989 (Perioral spasm)\n", + " \n", + " \n", + " A sudden involuntary contraction of the musculature surrounding the mouth.\n", + " definition of HP:0031989 (Perioral spasm)\n", + " \n", + " \n", + " Abdominal pain\n", + " definition of HP:0002027 (Abdominal pain)\n", + " \n", + " \n", + " An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.\n", + " definition of HP:0002027 (Abdominal pain)\n", + " \n", + " \n", + " #Abdominal pain #Pain in stomach #Stomach pain\n", + " definition of HP:0002027 (Abdominal pain)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the ovary\n", + " definition of HP:0010462 (Aplasia/Hypoplasia of the ovary)\n", + " \n", + " \n", + " Aplasia or developmental hypoplasia of the ovary.\n", + " definition of HP:0010462 (Aplasia/Hypoplasia of the ovary)\n", + " \n", + " \n", + " #Absent/small ovary #Absent/underdeveloped ovary\n", + " definition of HP:0010462 (Aplasia/Hypoplasia of the ovary)\n", + " \n", + " \n", + " Midline sinus of philtrum\n", + " definition of HP:0011828 (Midline sinus of philtrum)\n", + " \n", + " \n", + " Pit in the midline of the philtral groove.\n", + " definition of HP:0011828 (Midline sinus of philtrum)\n", + " \n", + " \n", + " #Central sinus of philtrum #Philtrum, Midline Sinus\n", + " definition of HP:0011828 (Midline sinus of philtrum)\n", + " \n", + " \n", + " Granulocytopenia\n", + " definition of HP:0001913 (Granulocytopenia)\n", + " \n", + " \n", + " An abnormally reduced number of granulocytes in the blood.\n", + " definition of HP:0001913 (Granulocytopenia)\n", + " \n", + " \n", + " Firm muscles\n", + " definition of HP:0003725 (Firm muscles)\n", + " \n", + " \n", + " Ornithinuria\n", + " definition of HP:0003532 (Ornithinuria)\n", + " \n", + " \n", + " Level of ornithine in the urine above the upper limit of normal.\n", + " definition of HP:0003532 (Ornithinuria)\n", + " \n", + " \n", + " #Ornithine high in urine\n", + " definition of HP:0003532 (Ornithinuria)\n", + " \n", + " \n", + " Synostosis involving the 2nd metacarpal\n", + " definition of HP:0009705 (Synostosis involving the 2nd metacarpal)\n", + " \n", + " \n", + " #Fusion involving the 2nd long bone of hand\n", + " definition of HP:0009705 (Synostosis involving the 2nd metacarpal)\n", + " \n", + " \n", + " Aplasia/Hypoplasia involving the musculature of the upper limbs\n", + " definition of HP:0001467 (Aplasia/Hypoplasia involving the musculature of the upper limbs)\n", + " \n", + " \n", + " Absence or underdevelopment of the musculature of the upper limbs.\n", + " definition of HP:0001467 (Aplasia/Hypoplasia involving the musculature of the upper limbs)\n", + " \n", + " \n", + " #Absent/small upper limb muscles #Absent/underdeveloped upper limb muscles\n", + " definition of HP:0001467 (Aplasia/Hypoplasia involving the musculature of the upper limbs)\n", + " \n", + " \n", + " Small intestinal lymphoplasmacytic infiltrate\n", + " definition of HP:0034550 (Small intestinal lymphoplasmacytic infiltrate)\n", + " \n", + " \n", + " Infiltration of the wall of the small intestine by lymphocytes and mature plasma cells.\n", + " definition of HP:0034550 (Small intestinal lymphoplasmacytic infiltrate)\n", + " \n", + " \n", + " Cor triatriatum dexter\n", + " definition of HP:0011566 (Cor triatriatum dexter)\n", + " \n", + " \n", + " A congenital anomaly with partitioning of the right atrium to form a triatrial heart caused by persistence of the right valve of the sinus venosus. Typically, the right atrial partition is due to exaggerated fetal eustachian and thebesian valves, which together form an incomplete septum across the lower part of the atrium. This septum may range from a reticulum to a substantial sheet of tissue.\n", + " definition of HP:0011566 (Cor triatriatum dexter)\n", + " \n", + " \n", + " #Cor triatriatum dextrum\n", + " definition of HP:0011566 (Cor triatriatum dexter)\n", + " \n", + " \n", + " Total anosmia\n", + " definition of HP:0010632 (Total anosmia)\n", + " \n", + " \n", + " Inability to detect any qualitative olfactory sensation.\n", + " definition of HP:0010632 (Total anosmia)\n", + " \n", + " \n", + " Abnormality of the middle ear\n", + " definition of HP:0000370 (Abnormality of the middle ear)\n", + " \n", + " \n", + " An abnormality of the middle ear.\n", + " definition of HP:0000370 (Abnormality of the middle ear)\n", + " \n", + " \n", + " #Middle ear abnormalities #Middle ear abnormality\n", + " definition of HP:0000370 (Abnormality of the middle ear)\n", + " \n", + " \n", + " Jaw mass\n", + " definition of HP:6000307 (Jaw mass)\n", + " \n", + " \n", + " A swelling or enlargement localized to the jaw. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.\n", + " definition of HP:6000307 (Jaw mass)\n", + " \n", + " \n", + " Elevated osmolality gap\n", + " definition of HP:6000820 (Elevated osmolality gap)\n", + " \n", + " \n", + " Plasma osmolality is determined mainly by Sodium, its counter ions, and uncharged species such as Glucose and Urea. Knowledge of the plasma concentration of these species allows calculation of the plasma osmolality quite accurately. If the difference between the measured osmolality (MO) and calculated osmolality (CO) is known as the osmolar gap (OG) is large (greater than 15) osmolar gap can help identify the presence in plasma of substances such as ethanol, methanol, isopropanol, ethylene glycol, propylene glycol..\n", + " definition of HP:6000820 (Elevated osmolality gap)\n", + " \n", + " \n", + " With the rule astigmatism\n", + " definition of HP:0031788 (With the rule astigmatism)\n", + " \n", + " \n", + " Refractive error in which the vertical meridian is relatively hypermetropic and the horizontal meridian is relatively myopic (or ocular astigmatism in which the refractive power of the horizontal meridian is the greatest).\n", + " definition of HP:0031788 (With the rule astigmatism)\n", + " \n", + " \n", + " Odontoma\n", + " definition of HP:0011068 (Odontoma)\n", + " \n", + " \n", + " The presence of an odontoma.\n", + " definition of HP:0011068 (Odontoma)\n", + " \n", + " \n", + " Pancreatic intraductal papillary mucinous neoplasm\n", + " definition of HP:6000657 (Pancreatic intraductal papillary mucinous neoplasm)\n", + " \n", + " \n", + " Intraductal papillary mucinous neoplasm (IPMN) is an exocrine neoplasm of the pancreas consisting of epithelial cells growing within the pancreatic ducts (main pancreatic duct or its major branches) and producing mucin. IPMN is a mucin-producing pancreatic cystic tumor. IPMN contains epithelial cells that can create papillary projections.\n", + " definition of HP:6000657 (Pancreatic intraductal papillary mucinous neoplasm)\n", + " \n", + " \n", + " Stippling of the epiphysis of the proximal phalanx of the hallux\n", + " definition of HP:0010136 (Stippling of the epiphysis of the proximal phalanx of the hallux)\n", + " \n", + " \n", + " The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the hallux.\n", + " definition of HP:0010136 (Stippling of the epiphysis of the proximal phalanx of the hallux)\n", + " \n", + " \n", + " #Speckled calcifications in the end part of the innermost bone of the big toe\n", + " definition of HP:0010136 (Stippling of the epiphysis of the proximal phalanx of the hallux)\n", + " \n", + " \n", + " Symphalangism affecting the phalanges of the toes\n", + " definition of HP:0010179 (Symphalangism affecting the phalanges of the toes)\n", + " \n", + " \n", + " #Fused toe bones\n", + " definition of HP:0010179 (Symphalangism affecting the phalanges of the toes)\n", + " \n", + " \n", + " Impaired renal uric acid clearance\n", + " definition of HP:0004732 (Impaired renal uric acid clearance)\n", + " \n", + " \n", + " A reduction in the ability of the kidneys to remove uric acid from the serum.\n", + " definition of HP:0004732 (Impaired renal uric acid clearance)\n", + " \n", + " \n", + " #Uric acid fractional excretion decreased\n", + " definition of HP:0004732 (Impaired renal uric acid clearance)\n", + " \n", + " \n", + " Abnormal circulating short-chain fatty-acid concentration\n", + " definition of HP:0033147 (Abnormal circulating short-chain fatty-acid concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of a short-chain fatty acid in the blood circulation.\n", + " definition of HP:0033147 (Abnormal circulating short-chain fatty-acid concentration)\n", + " \n", + " \n", + " Copper beaten skull\n", + " definition of HP:0034271 (Copper beaten skull)\n", + " \n", + " \n", + " Diffuse prominent gyral impressions on the inner table of skull vault said to resemble beaten copper.\n", + " definition of HP:0034271 (Copper beaten skull)\n", + " \n", + " \n", + " Aortic aneurysm\n", + " definition of HP:0004942 (Aortic aneurysm)\n", + " \n", + " \n", + " Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter.\n", + " definition of HP:0004942 (Aortic aneurysm)\n", + " \n", + " \n", + " #Aortic dilatation #Bulge in wall of large artery that carries blood away from heart #Enlarged aorta\n", + " definition of HP:0004942 (Aortic aneurysm)\n", + " \n", + " \n", + " Anti-nucleolus-organizing region antibody positivity\n", + " definition of HP:0034083 (Anti-nucleolus-organizing region antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Nor90.\n", + " definition of HP:0034083 (Anti-nucleolus-organizing region antibody positivity)\n", + " \n", + " \n", + " #Anti-Nor90 antibody positivity\n", + " definition of HP:0034083 (Anti-nucleolus-organizing region antibody positivity)\n", + " \n", + " \n", + " Keratitis\n", + " definition of HP:0000491 (Keratitis)\n", + " \n", + " \n", + " Inflammation of the cornea.\n", + " definition of HP:0000491 (Keratitis)\n", + " \n", + " \n", + " #Corneal inflammation\n", + " definition of HP:0000491 (Keratitis)\n", + " \n", + " \n", + " Curved phalanges of the 3rd finger\n", + " definition of HP:0009442 (Curved phalanges of the 3rd finger)\n", + " \n", + " \n", + " Curved appearance of the phalanges of the 3rd finger.\n", + " definition of HP:0009442 (Curved phalanges of the 3rd finger)\n", + " \n", + " \n", + " #Curved bones of middle finger\n", + " definition of HP:0009442 (Curved phalanges of the 3rd finger)\n", + " \n", + " \n", + " Plantar warts\n", + " definition of HP:0033005 (Plantar warts)\n", + " \n", + " \n", + " Multiple verrucous lesions on the skin of the sole of the foot. These lesions are raised, have a thickened and rough surface, and may display prominent black dots (thrombosed capillaries). Palmar warts are caused by caused by human papillomavirus (HPV).\n", + " definition of HP:0033005 (Plantar warts)\n", + " \n", + " \n", + " Elevated CSF fumarate concentration\n", + " definition of HP:0033503 (Elevated CSF fumarate concentration)\n", + " \n", + " \n", + " An increased concentration of fumarate, an intermediate in the citric acid cycle, in the cebrebrospinal fluid.\n", + " definition of HP:0033503 (Elevated CSF fumarate concentration)\n", + " \n", + " \n", + " Transient nephrotic syndrome\n", + " definition of HP:0008695 (Transient nephrotic syndrome)\n", + " \n", + " \n", + " #Transient nephrosis\n", + " definition of HP:0008695 (Transient nephrotic syndrome)\n", + " \n", + " \n", + " Tubular shadows\n", + " definition of HP:0034945 (Tubular shadows)\n", + " \n", + " \n", + " Tubular shadows are characterized by a complete absence of cells in the testicular tubules, meaning that germ cells as well as somatic Sertoli cells are absent. The cells have been replaced by hyalinization.\n", + " definition of HP:0034945 (Tubular shadows)\n", + " \n", + " \n", + " Increased urine urobilinogen\n", + " definition of HP:0031890 (Increased urine urobilinogen)\n", + " \n", + " \n", + " An elevated concentration of urobilinogen in the urine.\n", + " definition of HP:0031890 (Increased urine urobilinogen)\n", + " \n", + " \n", + " Hyperoxemia\n", + " definition of HP:0012419 (Hyperoxemia)\n", + " \n", + " \n", + " An abnormally high level of blood oxygen.\n", + " definition of HP:0012419 (Hyperoxemia)\n", + " \n", + " \n", + " Abnormality of the alternative complement pathway\n", + " definition of HP:0005482 (Abnormality of the alternative complement pathway)\n", + " \n", + " \n", + " A deviation in any aspect of the alternative complement pathway.\n", + " definition of HP:0005482 (Abnormality of the alternative complement pathway)\n", + " \n", + " \n", + " Intellectual disability, severe\n", + " definition of HP:0010864 (Intellectual disability, severe)\n", + " \n", + " \n", + " Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.\n", + " definition of HP:0010864 (Intellectual disability, severe)\n", + " \n", + " \n", + " #Early and severe mental retardation #Intellectual disability, severe #Mental retardation, severe #Severe mental retardation\n", + " definition of HP:0010864 (Intellectual disability, severe)\n", + " \n", + " \n", + " Optic neuropathy\n", + " definition of HP:0001138 (Optic neuropathy)\n", + " \n", + " \n", + " #Damaged optic nerve\n", + " definition of HP:0001138 (Optic neuropathy)\n", + " \n", + " \n", + " Goiter\n", + " definition of HP:0000853 (Goiter)\n", + " \n", + " \n", + " An enlargement of the thyroid gland.\n", + " definition of HP:0000853 (Goiter)\n", + " \n", + " \n", + " #Enlarged thyroid gland in neck #Goitre #Thyroid goiter #Thyroid goitre\n", + " definition of HP:0000853 (Goiter)\n", + " \n", + " \n", + " Retinal racemose hemangioma\n", + " definition of HP:0030509 (Retinal racemose hemangioma)\n", + " \n", + " \n", + " #Retinal racemose haemangioma\n", + " definition of HP:0030509 (Retinal racemose hemangioma)\n", + " \n", + " \n", + " Fractured middle phalanx of pedal digit 3\n", + " definition of HP:0041186 (Fractured middle phalanx of pedal digit 3)\n", + " \n", + " \n", + " A partial or complete breakage of the middle phalanx of pedal digit 3.\n", + " definition of HP:0041186 (Fractured middle phalanx of pedal digit 3)\n", + " \n", + " \n", + " #bone middle phalanx of pedal digit 3\n", + " definition of HP:0041186 (Fractured middle phalanx of pedal digit 3)\n", + " \n", + " \n", + " Agenesis of the anterior commissure\n", + " definition of HP:0030302 (Agenesis of the anterior commissure)\n", + " \n", + " \n", + " Absence of the anterior commissure.\n", + " definition of HP:0030302 (Agenesis of the anterior commissure)\n", + " \n", + " \n", + " Carcinoid tumor\n", + " definition of HP:0100570 (Carcinoid tumor)\n", + " \n", + " \n", + " A tumor formed from the endocrine (argentaffin) cells of the mucosal lining of a variety of organs including the stomach and intestine. These cells are from neuroectodermal origin.\n", + " definition of HP:0100570 (Carcinoid tumor)\n", + " \n", + " \n", + " #Carcinoid #Carcinoid tumour\n", + " definition of HP:0100570 (Carcinoid tumor)\n", + " \n", + " \n", + " Type III truncus arteriosus\n", + " definition of HP:0011609 (Type III truncus arteriosus)\n", + " \n", + " \n", + " Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) whereby one of the two pulmonary artery branched does not arise from the common pulmonary trunk, but instead from the ductus arteriosus or directly from the aorta.\n", + " definition of HP:0011609 (Type III truncus arteriosus)\n", + " \n", + " \n", + " #Persistent truncus arteriosus type III #Type 3 truncus arteriosus\n", + " definition of HP:0011609 (Type III truncus arteriosus)\n", + " \n", + " \n", + " Childhood-onset truncal obesity\n", + " definition of HP:0008915 (Childhood-onset truncal obesity)\n", + " \n", + " \n", + " Truncal obesity with onset during childhood, defined as between 2 and 10 years of age.\n", + " definition of HP:0008915 (Childhood-onset truncal obesity)\n", + " \n", + " \n", + " #Truncal obesity apparent in childhood\n", + " definition of HP:0008915 (Childhood-onset truncal obesity)\n", + " \n", + " \n", + " Pericardial friction rub\n", + " definition of HP:0034788 (Pericardial friction rub)\n", + " \n", + " \n", + " A pericardial friction rub is a grating, to-and-fro sound that occurs in phase with the heart sounds.\n", + " definition of HP:0034788 (Pericardial friction rub)\n", + " \n", + " \n", + " #Cardiac rub\n", + " definition of HP:0034788 (Pericardial friction rub)\n", + " \n", + " \n", + " Increased circulating trypsinogen\n", + " definition of HP:0032493 (Increased circulating trypsinogen)\n", + " \n", + " \n", + " An abnormally high concentration of trypsinogen in the blood circulation.\n", + " definition of HP:0032493 (Increased circulating trypsinogen)\n", + " \n", + " \n", + " #Increased immunoreactive trypsinogen\n", + " definition of HP:0032493 (Increased circulating trypsinogen)\n", + " \n", + " \n", + " Hyperthreoninuria\n", + " definition of HP:0003296 (Hyperthreoninuria)\n", + " \n", + " \n", + " An increased concentration of threonine in the urine.\n", + " definition of HP:0003296 (Hyperthreoninuria)\n", + " \n", + " \n", + " #High urine threonine levels\n", + " definition of HP:0003296 (Hyperthreoninuria)\n", + " \n", + " \n", + " Decreased female libido\n", + " definition of HP:0030018 (Decreased female libido)\n", + " \n", + " \n", + " Diminished sexual desire in female.\n", + " definition of HP:0030018 (Decreased female libido)\n", + " \n", + " \n", + " #Decreased female sex drive\n", + " definition of HP:0030018 (Decreased female libido)\n", + " \n", + " \n", + " Contracture of the metatarsophalangeal joint of the 4th toe\n", + " definition of HP:0100358 (Contracture of the metatarsophalangeal joint of the 4th toe)\n", + " \n", + " \n", + " The joint between the fourth metatarsal and the proximal phalanx of the fourth toe cannot be straightened actively or passively.\n", + " definition of HP:0100358 (Contracture of the metatarsophalangeal joint of the 4th toe)\n", + " \n", + " \n", + " Diffuse leukoencephalopathy\n", + " definition of HP:0006994 (Diffuse leukoencephalopathy)\n", + " \n", + " \n", + " Decreased tear drainage\n", + " definition of HP:0031881 (Decreased tear drainage)\n", + " \n", + " \n", + " A form of watery eye associated with obstruction of the nasolacrimal system. This may arise at the level of the punctum, the canaliculi, the sac or the nasolacrimal duct.\n", + " definition of HP:0031881 (Decreased tear drainage)\n", + " \n", + " \n", + " Geographic tongue\n", + " definition of HP:0025252 (Geographic tongue)\n", + " \n", + " \n", + " An anomaly of the tongue characterized by loss (atrophy) of filiform papillae of the tongue, leaving areas of erythema (redness), surrounded by a serpiginous, white, hyperkeratotic border. The name geographic tongue refers to an appearance that is said to be similar to a map.\n", + " definition of HP:0025252 (Geographic tongue)\n", + " \n", + " \n", + " #Annulus migrans #Benign migratory glossitis #Glossitis areata exfoliativa #Lingual erythema migrans #Wandering rash of the tongue\n", + " definition of HP:0025252 (Geographic tongue)\n", + " \n", + " \n", + " Phalangeal cone-shaped epiphyses\n", + " definition of HP:0034281 (Phalangeal cone-shaped epiphyses)\n", + " \n", + " \n", + " Cone-shaped epiphyses of the phalanges of the hands or feet. Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery.\n", + " definition of HP:0034281 (Phalangeal cone-shaped epiphyses)\n", + " \n", + " \n", + " #Cone-shaped epiphyses of phalanges #Cone-shaped phalangeal epiphyses\n", + " definition of HP:0034281 (Phalangeal cone-shaped epiphyses)\n", + " \n", + " \n", + " Short foot\n", + " definition of HP:0001773 (Short foot)\n", + " \n", + " \n", + " A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).\n", + " definition of HP:0001773 (Short foot)\n", + " \n", + " \n", + " #Hypoplastic feet #Short feet #Short foot #Small feet\n", + " definition of HP:0001773 (Short foot)\n", + " \n", + " \n", + " Deficiency or absence of cytochrome b(-245)\n", + " definition of HP:0003514 (Deficiency or absence of cytochrome b(-245))\n", + " \n", + " \n", + " #Deficiency or absence of cytochrome b\n", + " definition of HP:0003514 (Deficiency or absence of cytochrome b(-245))\n", + " \n", + " \n", + " Cystic medial necrosis\n", + " definition of HP:0012180 (Cystic medial necrosis)\n", + " \n", + " \n", + " A disorder of large arteries, in particular the aorta, characterized by an accumulation of basophilic ground substance in the media with cyst-like lesions associated with degenerative changes of collagen, elastin and the vascular smooth muscle cells.\n", + " definition of HP:0012180 (Cystic medial necrosis)\n", + " \n", + " \n", + " #Arterial cystic medial necrosis\n", + " definition of HP:0012180 (Cystic medial necrosis)\n", + " \n", + " \n", + " Eosinophilic liver infiltration\n", + " definition of HP:0032021 (Eosinophilic liver infiltration)\n", + " \n", + " \n", + " Cellular infiltration of the liver parenchyma with a preponderance of eosinophils.\n", + " definition of HP:0032021 (Eosinophilic liver infiltration)\n", + " \n", + " \n", + " Onychogryposis\n", + " definition of HP:0001805 (Onychogryposis)\n", + " \n", + " \n", + " Nail that appears thick when viewed on end.\n", + " definition of HP:0001805 (Onychogryposis)\n", + " \n", + " \n", + " #Dystrophic thickened nails #Thick nail #Thickened nails\n", + " definition of HP:0001805 (Onychogryposis)\n", + " \n", + " \n", + " Sodium glucose transport inhibitor exposure\n", + " definition of HP:6000949 (Sodium glucose transport inhibitor exposure)\n", + " \n", + " \n", + " History of having been treateed with a sodium glucose transport inhibitors such as dapagliflozin, empagliflozin, canagliflozin, sglt-i, SGLT2, bexagliflozin, ertugliflozin, sotagliflozin, jardiance, invokana, forxiga, brenzavvy, steglatro, inpefa.\n", + " definition of HP:6000949 (Sodium glucose transport inhibitor exposure)\n", + " \n", + " \n", + " #SGLT2i exposure\n", + " definition of HP:6000949 (Sodium glucose transport inhibitor exposure)\n", + " \n", + " \n", + " Enlarged naris\n", + " definition of HP:0009931 (Enlarged naris)\n", + " \n", + " \n", + " Increased aperture of the nostril.\n", + " definition of HP:0009931 (Enlarged naris)\n", + " \n", + " \n", + " #Broad nostril #Dilated nares #Dilated nostril #Enlarged nares #Enlarged nostril #Increased diameter of nares #Increased diameter of nostril #Increased width of nares #Large nares #Naris, broad #Naris, enlarged #Wide nares #Wide nostril\n", + " definition of HP:0009931 (Enlarged naris)\n", + " \n", + " \n", + " Aplastic anemia\n", + " definition of HP:0001915 (Aplastic anemia)\n", + " \n", + " \n", + " Aplastic anemia is defined as pancytopenia with a hypocellular marrow.\n", + " definition of HP:0001915 (Aplastic anemia)\n", + " \n", + " \n", + " #Aplastic anaemia\n", + " definition of HP:0001915 (Aplastic anemia)\n", + " \n", + " \n", + " Recurrent Serratia marcescens infections\n", + " definition of HP:0002741 (Recurrent Serratia marcescens infections)\n", + " \n", + " \n", + " Increased susceptibility to Serratia marcescens infections, as manifested by recurrent episodes of Serratia marcescens infection.\n", + " definition of HP:0002741 (Recurrent Serratia marcescens infections)\n", + " \n", + " \n", + " Reduced arm span\n", + " definition of HP:0012770 (Reduced arm span)\n", + " \n", + " \n", + " Decreased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle).\n", + " definition of HP:0012770 (Reduced arm span)\n", + " \n", + " \n", + " #Reduced arm span\n", + " definition of HP:0012770 (Reduced arm span)\n", + " \n", + " \n", + " Acute constipation\n", + " definition of HP:0012451 (Acute constipation)\n", + " \n", + " \n", + " Constipation of sudden onset and lasting for less than three months.\n", + " definition of HP:0012451 (Acute constipation)\n", + " \n", + " \n", + " Postaxial polysyndactyly of foot\n", + " definition of HP:0005817 (Postaxial polysyndactyly of foot)\n", + " \n", + " \n", + " Combined syndactyly and polydactyly of the foot on the lateral side (i.e., on the side of the little toe).\n", + " definition of HP:0005817 (Postaxial polysyndactyly of foot)\n", + " \n", + " \n", + " Severe short-limb dwarfism\n", + " definition of HP:0008890 (Severe short-limb dwarfism)\n", + " \n", + " \n", + " Focal aware epileptic spasm\n", + " definition of HP:0032845 (Focal aware epileptic spasm)\n", + " \n", + " \n", + " A type of focal-onset epileptic spasm in which awareness is preserved throughout the seizure.\n", + " definition of HP:0032845 (Focal aware epileptic spasm)\n", + " \n", + " \n", + " Weak grip\n", + " definition of HP:0033466 (Weak grip)\n", + " \n", + " \n", + " Reduced grip strength. Gripping is the motion by which the hand tightly grasps an object or other hand.\n", + " definition of HP:0033466 (Weak grip)\n", + " \n", + " \n", + " Ameliorated by folinic acid\n", + " definition of HP:0034630 (Ameliorated by folinic acid)\n", + " \n", + " \n", + " Applies to a sign or symptom that is improved or made more bearable by treatment with folinic acid.\n", + " definition of HP:0034630 (Ameliorated by folinic acid)\n", + " \n", + " \n", + " #Ameliorated by leucovorin\n", + " definition of HP:0034630 (Ameliorated by folinic acid)\n", + " \n", + " \n", + " Abnormal tissue metabolite concentration\n", + " definition of HP:0032243 (Abnormal tissue metabolite concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of a metabolite in a tissue.\n", + " definition of HP:0032243 (Abnormal tissue metabolite concentration)\n", + " \n", + " \n", + " Sclerosis of the distal phalanx of the 2nd finger\n", + " definition of HP:0100900 (Sclerosis of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Increased bone density in the outermost bone of the index finger\n", + " definition of HP:0100900 (Sclerosis of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Breast myxoma\n", + " definition of HP:6000671 (Breast myxoma)\n", + " \n", + " \n", + " A rare, benign mesenchymal tumor of the breast characterized histologically by stellate, round, and spindle-shaped cells with vesicular nuclei and scant cytoplasm that are scattered in the myxoid stroma.\n", + " definition of HP:6000671 (Breast myxoma)\n", + " \n", + " \n", + " Anal fistula\n", + " definition of HP:0010447 (Anal fistula)\n", + " \n", + " \n", + " An abnormal connection between the epithelialised surface of the anal canal and the perianal skin.\n", + " definition of HP:0010447 (Anal fistula)\n", + " \n", + " \n", + " #Fistula in ano\n", + " definition of HP:0010447 (Anal fistula)\n", + " \n", + " \n", + " Abnormal urinary acylglycine profile\n", + " definition of HP:0012073 (Abnormal urinary acylglycine profile)\n", + " \n", + " \n", + " An abnormal distribution of N-acylglycines in the urine. There are numerous different N-acylglycines, and this term refers to pathological alterations in their level or distribution.\n", + " definition of HP:0012073 (Abnormal urinary acylglycine profile)\n", + " \n", + " \n", + " Proximal fibular overgrowth\n", + " definition of HP:0005067 (Proximal fibular overgrowth)\n", + " \n", + " \n", + " Overgrowth of the proximal part of the fibula.\n", + " definition of HP:0005067 (Proximal fibular overgrowth)\n", + " \n", + " \n", + " #Overgrowth of innermost part of calf bone\n", + " definition of HP:0005067 (Proximal fibular overgrowth)\n", + " \n", + " \n", + " Intrascapular pain\n", + " definition of HP:0033746 (Intrascapular pain)\n", + " \n", + " \n", + " An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the area between the shoulder blades.\n", + " definition of HP:0033746 (Intrascapular pain)\n", + " \n", + " \n", + " #Pain between shoulder blades\n", + " definition of HP:0033746 (Intrascapular pain)\n", + " \n", + " \n", + " Abnormal erythrocyte morphology\n", + " definition of HP:0001877 (Abnormal erythrocyte morphology)\n", + " \n", + " \n", + " Any structural abnormality of erythrocytes (red-blood cells).\n", + " definition of HP:0001877 (Abnormal erythrocyte morphology)\n", + " \n", + " \n", + " #Abnormality of erythrocytes #Abnormality of red blood cells\n", + " definition of HP:0001877 (Abnormal erythrocyte morphology)\n", + " \n", + " \n", + " Abnormal proportion of double-negative alpha-beta regulatory T cell\n", + " definition of HP:0031399 (Abnormal proportion of double-negative alpha-beta regulatory T cell)\n", + " \n", + " \n", + " An abnormal proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells.\n", + " definition of HP:0031399 (Abnormal proportion of double-negative alpha-beta regulatory T cell)\n", + " \n", + " \n", + " #Abnormal CD4-negative, CD8-negative, alpha-beta regulatory T cell distribution #Abnormal DN Treg distribution #Abnormal Double negative Treg distribution #Abnormal double-negative alpha-beta regulatory T cell distribution\n", + " definition of HP:0031399 (Abnormal proportion of double-negative alpha-beta regulatory T cell)\n", + " \n", + " \n", + " Yellow skin plaque\n", + " definition of HP:0031360 (Yellow skin plaque)\n", + " \n", + " \n", + " A solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter and that has a yellow color.\n", + " definition of HP:0031360 (Yellow skin plaque)\n", + " \n", + " \n", + " Renal interstitial plasma cell infiltration\n", + " definition of HP:0032586 (Renal interstitial plasma cell infiltration)\n", + " \n", + " \n", + " Increased numbers of plasma cells in the interstitial tissues of the kidney.\n", + " definition of HP:0032586 (Renal interstitial plasma cell infiltration)\n", + " \n", + " \n", + " Increased size of the clitoris\n", + " definition of HP:0040253 (Increased size of the clitoris)\n", + " \n", + " \n", + " Abnormal Humphrey SITA 30-2 perimetry test\n", + " definition of HP:0030596 (Abnormal Humphrey SITA 30-2 perimetry test)\n", + " \n", + " \n", + " Anti-angiotensin-converting enzyme 2 antibody positivity\n", + " definition of HP:0034117 (Anti-angiotensin-converting enzyme 2 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against angiotensin-converting enzyme 2.\n", + " definition of HP:0034117 (Anti-angiotensin-converting enzyme 2 antibody positivity)\n", + " \n", + " \n", + " #Anti-ACE2 antibody positivity\n", + " definition of HP:0034117 (Anti-angiotensin-converting enzyme 2 antibody positivity)\n", + " \n", + " \n", + " Fetal pyelectasis\n", + " definition of HP:0010945 (Fetal pyelectasis)\n", + " \n", + " \n", + " Mild pyelectasis is defined as a hypoechoic spherical or elliptical space within the renal pelvis that measures at least 5mm and not more than 10 mm. The measurement is taken on a transverse section through the fetal renal pelvis using the maximum anterior-to-posterior measurement.\n", + " definition of HP:0010945 (Fetal pyelectasis)\n", + " \n", + " \n", + " #Fetal renal pelvic dilatation #Foetal pyelectasis #Foetal renal pelvic dilatation #Mild fetal hydronephrosis #Mild foetal hydronephrosis\n", + " definition of HP:0010945 (Fetal pyelectasis)\n", + " \n", + " \n", + " Recent history of moisture in external ear canal\n", + " definition of HP:6000773 (Recent history of moisture in external ear canal)\n", + " \n", + " \n", + " A recent history of being exposed to moisture in the external ear canal.\n", + " definition of HP:6000773 (Recent history of moisture in external ear canal)\n", + " \n", + " \n", + " Iliac crest serration\n", + " definition of HP:0008786 (Iliac crest serration)\n", + " \n", + " \n", + " Irregularities of the iliac crest that produce the appearance of a lace border around it.\n", + " definition of HP:0008786 (Iliac crest serration)\n", + " \n", + " \n", + " #Irregular lacy iliac crest #Lacy appearance of iliac crest\n", + " definition of HP:0008786 (Iliac crest serration)\n", + " \n", + " \n", + " Arcuate artery intimal mucoid edema\n", + " definition of HP:0033915 (Arcuate artery intimal mucoid edema)\n", + " \n", + " \n", + " Accumulation of edematous extracellular matrix in intima resembling mucus. This feature appears pale blue on hematoxylin and eosin staining.\n", + " definition of HP:0033915 (Arcuate artery intimal mucoid edema)\n", + " \n", + " \n", + " Abnormal muscle fiber morphology\n", + " definition of HP:0004303 (Abnormal muscle fiber morphology)\n", + " \n", + " \n", + " Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers.\n", + " definition of HP:0004303 (Abnormal muscle fiber morphology)\n", + " \n", + " \n", + " #Abnormal muscle fibre morphology #Abnormal skeletal muscle fiber morphology #Abnormal skeletal muscle fibre morphology #Abnormality of muscle fibers #Abnormality of muscle fibres\n", + " definition of HP:0004303 (Abnormal muscle fiber morphology)\n", + " \n", + " \n", + " Abnormality of the hip-girdle musculature\n", + " definition of HP:0001445 (Abnormality of the hip-girdle musculature)\n", + " \n", + " \n", + " Gustatory hallucination\n", + " definition of HP:5200201 (Gustatory hallucination)\n", + " \n", + " \n", + " Perception of taste without gustatory stimulus.\n", + " definition of HP:5200201 (Gustatory hallucination)\n", + " \n", + " \n", + " #Hallucinations of taste #Taste hallucination\n", + " definition of HP:5200201 (Gustatory hallucination)\n", + " \n", + " \n", + " Aplasia of the distal phalanx of the thumb\n", + " definition of HP:0009649 (Aplasia of the distal phalanx of the thumb)\n", + " \n", + " \n", + " Absence of the distal/terminal phalanx of the thumb.\n", + " definition of HP:0009649 (Aplasia of the distal phalanx of the thumb)\n", + " \n", + " \n", + " #Absence of the outermost bone of the thumb #Absent ossification/absent terminal thumb phalanx #Aplasia of the outermost bone of the thumb\n", + " definition of HP:0009649 (Aplasia of the distal phalanx of the thumb)\n", + " \n", + " \n", + " Duplication of the proximal phalanx of the 4th toe\n", + " definition of HP:0100405 (Duplication of the proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " Partial or complete duplication of the proximal phalanx of fourth toe.\n", + " definition of HP:0100405 (Duplication of the proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " #Duplication of the innermost 4th toe bone #Duplication of the proximal phalanx of the fourth toe #Partial/complete duplication of the proximal phalanx of the 4th toe\n", + " definition of HP:0100405 (Duplication of the proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " Hypoplastic posterior communicating artery\n", + " definition of HP:0012519 (Hypoplastic posterior communicating artery)\n", + " \n", + " \n", + " A developmental anomnaly characterized by underdevelopment of the posterior communicating artery.\n", + " definition of HP:0012519 (Hypoplastic posterior communicating artery)\n", + " \n", + " \n", + " Excessive fire setting\n", + " definition of HP:5200338 (Excessive fire setting)\n", + " \n", + " \n", + " The inability to control urges of deliberately setting fires for pleasure and gratification, without any criminal intent.\n", + " definition of HP:5200338 (Excessive fire setting)\n", + " \n", + " \n", + " #Pyromania\n", + " definition of HP:5200338 (Excessive fire setting)\n", + " \n", + " \n", + " Increased incisura width\n", + " definition of HP:0031232 (Increased incisura width)\n", + " \n", + " \n", + " Breadth of the incisura from the anterior to posterior border greater than that observed in the average population.\n", + " definition of HP:0031232 (Increased incisura width)\n", + " \n", + " \n", + " Limitation of neck motion\n", + " definition of HP:0005986 (Limitation of neck motion)\n", + " \n", + " \n", + " #Limitation of neck motion #Restricted neck movement\n", + " definition of HP:0005986 (Limitation of neck motion)\n", + " \n", + " \n", + " Irregular epiphysis of the distal phalanx of the 3rd finger\n", + " definition of HP:0009340 (Irregular epiphysis of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Irregular radiographic opacity of the epiphysis of the distal phalanx of the 3rd finger.\n", + " definition of HP:0009340 (Irregular epiphysis of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Irregular end part of the outermost long bone of the middle finger\n", + " definition of HP:0009340 (Irregular epiphysis of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Patchy sclerosis of 5th toe phalanx\n", + " definition of HP:0010388 (Patchy sclerosis of 5th toe phalanx)\n", + " \n", + " \n", + " Patchy (irregular) increase in bone density of one or more of the phalanges of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.\n", + " definition of HP:0010388 (Patchy sclerosis of 5th toe phalanx)\n", + " \n", + " \n", + " #Patchy sclerosis of the phalanges of the 5th toe #Uneven increase in bone density in little toe bone #Uneven increase in bone density in pinkie toe bone #Uneven increase in bone density in pinky toe bone\n", + " definition of HP:0010388 (Patchy sclerosis of 5th toe phalanx)\n", + " \n", + " \n", + " Abnormal paranasal sinus morphology\n", + " definition of HP:0000245 (Abnormal paranasal sinus morphology)\n", + " \n", + " \n", + " Abnormality of the paranasal (cranial) sinuses, which are air-filled spaces that are located within the bones of the skull and face and communicate with the nasal cavity. They comprise the maxillary sinuses, the frontal sinuses, the ethmoid sinuses, and the sphenoid sinuses.\n", + " definition of HP:0000245 (Abnormal paranasal sinus morphology)\n", + " \n", + " \n", + " #Abnormality of the sinuses of the head\n", + " definition of HP:0000245 (Abnormal paranasal sinus morphology)\n", + " \n", + " \n", + " Abnormal circulating branched chain amino acid concentration\n", + " definition of HP:0010892 (Abnormal circulating branched chain amino acid concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of a branched chain family amino acid in the blood circulation.\n", + " definition of HP:0010892 (Abnormal circulating branched chain amino acid concentration)\n", + " \n", + " \n", + " EEG with photoparoxysmal response grade I\n", + " definition of HP:0011211 (EEG with photoparoxysmal response grade I)\n", + " \n", + " \n", + " Occurrence of epileptiform discharges in occipital regions during photic stimulation.\n", + " definition of HP:0011211 (EEG with photoparoxysmal response grade I)\n", + " \n", + " \n", + " Focal autonomic seizure with piloerection\n", + " definition of HP:0032767 (Focal autonomic seizure with piloerection)\n", + " \n", + " \n", + " A type of focal autonomic seizure characterized by piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) as the initial semiological feature.\n", + " definition of HP:0032767 (Focal autonomic seizure with piloerection)\n", + " \n", + " \n", + " Congestive heart failure\n", + " definition of HP:0001635 (Congestive heart failure)\n", + " \n", + " \n", + " The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.\n", + " definition of HP:0001635 (Congestive heart failure)\n", + " \n", + " \n", + " #Cardiac failure #Cardiac failures #Cardiac insufficiency #CHF #Chronic heart failure #Heart failure\n", + " definition of HP:0001635 (Congestive heart failure)\n", + " \n", + " \n", + " Increased circulating aspartic acid concentration\n", + " definition of HP:0500159 (Increased circulating aspartic acid concentration)\n", + " \n", + " \n", + " An increased concentration of aspartic acid in the blood circulation.\n", + " definition of HP:0500159 (Increased circulating aspartic acid concentration)\n", + " \n", + " \n", + " #High blood aspartic acid levels #Increased blood aspartic acid #Increased level of circulating aspartic acid\n", + " definition of HP:0500159 (Increased circulating aspartic acid concentration)\n", + " \n", + " \n", + " Abnormal paracentral response of multifocal electroretinogram\n", + " definition of HP:0030489 (Abnormal paracentral response of multifocal electroretinogram)\n", + " \n", + " \n", + " Decreased proportion of CD3-positive T cells\n", + " definition of HP:0045080 (Decreased proportion of CD3-positive T cells)\n", + " \n", + " \n", + " Any abnormality in the proportion of CD3-positive T cells relative to the total number of T cells.\n", + " definition of HP:0045080 (Decreased proportion of CD3-positive T cells)\n", + " \n", + " \n", + " #Decreased proportion of CD3+ T cells\n", + " definition of HP:0045080 (Decreased proportion of CD3-positive T cells)\n", + " \n", + " \n", + " Congenital earlobe sinuses\n", + " definition of HP:0004461 (Congenital earlobe sinuses)\n", + " \n", + " \n", + " Pits in the earlobes at the location where ears are typically pierced for earrings.\n", + " definition of HP:0004461 (Congenital earlobe sinuses)\n", + " \n", + " \n", + " Muscle eosinophilia\n", + " definition of HP:0032019 (Muscle eosinophilia)\n", + " \n", + " \n", + " Eosinophil infiltration of skeletal muscle.\n", + " definition of HP:0032019 (Muscle eosinophilia)\n", + " \n", + " \n", + " #Eosinophilic infiltration of skeletal muscle\n", + " definition of HP:0032019 (Muscle eosinophilia)\n", + " \n", + " \n", + " Hypoplastic labia minora\n", + " definition of HP:0000064 (Hypoplastic labia minora)\n", + " \n", + " \n", + " #Underdeveloped inner lips\n", + " definition of HP:0000064 (Hypoplastic labia minora)\n", + " \n", + " \n", + " Patchy sclerosis of 5th finger phalanx\n", + " definition of HP:0009377 (Patchy sclerosis of 5th finger phalanx)\n", + " \n", + " \n", + " Uneven increase in bone density of one or more of the phalanges of the 5th finger.\n", + " definition of HP:0009377 (Patchy sclerosis of 5th finger phalanx)\n", + " \n", + " \n", + " #Patchy sclerosis of the phalanges of the 5th finger #Uneven increase in bone density in little finger bone #Uneven increase in bone density in pinkie finger bone #Uneven increase in bone density in pinky finger bone\n", + " definition of HP:0009377 (Patchy sclerosis of 5th finger phalanx)\n", + " \n", + " \n", + " Abnormality of the distal phalanges of the toes\n", + " definition of HP:0010182 (Abnormality of the distal phalanges of the toes)\n", + " \n", + " \n", + " #Abnormality of the outermost bone of the toes\n", + " definition of HP:0010182 (Abnormality of the distal phalanges of the toes)\n", + " \n", + " \n", + " Bilateral coxa valga\n", + " definition of HP:0010665 (Bilateral coxa valga)\n", + " \n", + " \n", + " The presence of bilateral coxa valga.\n", + " definition of HP:0010665 (Bilateral coxa valga)\n", + " \n", + " \n", + " Bracket epiphyses of the thumb\n", + " definition of HP:0009687 (Bracket epiphyses of the thumb)\n", + " \n", + " \n", + " An abnormality of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.\n", + " definition of HP:0009687 (Bracket epiphyses of the thumb)\n", + " \n", + " \n", + " #Bracket shaped end part of the thumb bone\n", + " definition of HP:0009687 (Bracket epiphyses of the thumb)\n", + " \n", + " \n", + " Squamous cell carcinoma\n", + " definition of HP:0002860 (Squamous cell carcinoma)\n", + " \n", + " \n", + " The presence of squamous cell carcinoma of the skin.\n", + " definition of HP:0002860 (Squamous cell carcinoma)\n", + " \n", + " \n", + " Non-periodic recurrent fever\n", + " definition of HP:0032324 (Non-periodic recurrent fever)\n", + " \n", + " \n", + " Episodic fever that recurs at irregular intervals.\n", + " definition of HP:0032324 (Non-periodic recurrent fever)\n", + " \n", + " \n", + " Hypocalciuria\n", + " definition of HP:0003127 (Hypocalciuria)\n", + " \n", + " \n", + " An abnormally decreased calcium concentration in the urine.\n", + " definition of HP:0003127 (Hypocalciuria)\n", + " \n", + " \n", + " #Low urine calcium levels\n", + " definition of HP:0003127 (Hypocalciuria)\n", + " \n", + " \n", + " Lewy bodies\n", + " definition of HP:0100315 (Lewy bodies)\n", + " \n", + " \n", + " Late chronotype\n", + " definition of HP:0031874 (Late chronotype)\n", + " \n", + " \n", + " A tendency towards waking up very late in the morning and staying up late at night.\n", + " definition of HP:0031874 (Late chronotype)\n", + " \n", + " \n", + " #Delayed sleep onset\n", + " definition of HP:0031874 (Late chronotype)\n", + " \n", + " \n", + " Focal impaired awareness autonomic seizure with hypoventilation/hyperventilation/altered respiration\n", + " definition of HP:0032775 (Focal impaired awareness autonomic seizure with hypoventilation/hyperventilation/altered respiration)\n", + " \n", + " \n", + " An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by impaired awareness at some point during the seizure.\n", + " definition of HP:0032775 (Focal impaired awareness autonomic seizure with hypoventilation/hyperventilation/altered respiration)\n", + " \n", + " \n", + " Blood group A\n", + " definition of HP:0032370 (Blood group A)\n", + " \n", + " \n", + " ABO phenotype A, corresponding to the genotype AO or AA.\n", + " definition of HP:0032370 (Blood group A)\n", + " \n", + " \n", + " Hypogonadism\n", + " definition of HP:0000135 (Hypogonadism)\n", + " \n", + " \n", + " A decreased functionality of the gonad.\n", + " definition of HP:0000135 (Hypogonadism)\n", + " \n", + " \n", + " #Decreased activity of gonads\n", + " definition of HP:0000135 (Hypogonadism)\n", + " \n", + " \n", + " Abnormal anterior horn cell morphology\n", + " definition of HP:0006802 (Abnormal anterior horn cell morphology)\n", + " \n", + " \n", + " Any anomaly of the anterior horn cell.\n", + " definition of HP:0006802 (Abnormal anterior horn cell morphology)\n", + " \n", + " \n", + " #Abnormality of the anterior horn cells #Anomaly of the anterior horn cells #Anterior horn cell disease\n", + " definition of HP:0006802 (Abnormal anterior horn cell morphology)\n", + " \n", + " \n", + " Few cafe-au-lait spots\n", + " definition of HP:0007429 (Few cafe-au-lait spots)\n", + " \n", + " \n", + " The presence of two to five cafe-au-lait macules.\n", + " definition of HP:0007429 (Few cafe-au-lait spots)\n", + " \n", + " \n", + " Solitary bladder diverticulum\n", + " definition of HP:0008691 (Solitary bladder diverticulum)\n", + " \n", + " \n", + " Presence of a single diverticulum (sac or pouch) in the wall of the urinary bladder.\n", + " definition of HP:0008691 (Solitary bladder diverticulum)\n", + " \n", + " \n", + " Orbital rhabdomyosarcoma\n", + " definition of HP:0500092 (Orbital rhabdomyosarcoma)\n", + " \n", + " \n", + " A mesenchymal tumor that is considered to be the commonest primary orbital malignancy in children. Histologically, it may be differentiated into embryonal, alveolar, and pleomorphic types. It is usually intraconal or within the superior orbit.\n", + " definition of HP:0500092 (Orbital rhabdomyosarcoma)\n", + " \n", + " \n", + " Syringomyelia\n", + " definition of HP:0003396 (Syringomyelia)\n", + " \n", + " \n", + " Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord.\n", + " definition of HP:0003396 (Syringomyelia)\n", + " \n", + " \n", + " #Fluid-filled cyst in spinal cord #Syrinx\n", + " definition of HP:0003396 (Syringomyelia)\n", + " \n", + " \n", + " Fragmentation of the epiphyses of the 2nd toe\n", + " definition of HP:0100048 (Fragmentation of the epiphyses of the 2nd toe)\n", + " \n", + " \n", + " #Fragmentation of the end part of the 2nd toe bone\n", + " definition of HP:0100048 (Fragmentation of the epiphyses of the 2nd toe)\n", + " \n", + " \n", + " History of compressive footwear\n", + " definition of HP:6000302 (History of compressive footwear)\n", + " \n", + " \n", + " A past medical history of wearing tight shoes, toe-box shoes, or high heel shoes.\n", + " definition of HP:6000302 (History of compressive footwear)\n", + " \n", + " \n", + " Triggered by exposure to medication\n", + " definition of HP:4000101 (Triggered by exposure to medication)\n", + " \n", + " \n", + " Applies to a sign or symptom that is provoked or brought about by exposure to a medication.\n", + " definition of HP:4000101 (Triggered by exposure to medication)\n", + " \n", + " \n", + " Lower limb asymmetry\n", + " definition of HP:0100559 (Lower limb asymmetry)\n", + " \n", + " \n", + " A difference in length or diameter between the left and right leg.\n", + " definition of HP:0100559 (Lower limb asymmetry)\n", + " \n", + " \n", + " #Left and right leg differ in length or width\n", + " definition of HP:0100559 (Lower limb asymmetry)\n", + " \n", + " \n", + " Congenital hemolytic anemia\n", + " definition of HP:0004804 (Congenital hemolytic anemia)\n", + " \n", + " \n", + " A form of hemolytic anemia with congenital onset.\n", + " definition of HP:0004804 (Congenital hemolytic anemia)\n", + " \n", + " \n", + " #Congenital haemolytic anaemia #Congenital haemolytic anemia #Congenital hemolytic anaemia\n", + " definition of HP:0004804 (Congenital hemolytic anemia)\n", + " \n", + " \n", + " Open comedo\n", + " definition of HP:0025251 (Open comedo)\n", + " \n", + " \n", + " A comedo in which the part of the pore at the surface of the skin is stretched and open, exposing the contents of the comedo, which appear black.\n", + " definition of HP:0025251 (Open comedo)\n", + " \n", + " \n", + " #Blackhead\n", + " definition of HP:0025251 (Open comedo)\n", + " \n", + " \n", + " Abnormal response to social norms\n", + " definition of HP:5200123 (Abnormal response to social norms)\n", + " \n", + " \n", + " Fetal exposure history\n", + " definition of HP:0034756 (Fetal exposure history)\n", + " \n", + " \n", + " A history of exposure during pregnancy of the mother of a fetus or child to a medication or other substance.\n", + " definition of HP:0034756 (Fetal exposure history)\n", + " \n", + " \n", + " #Fetal medication or drug exposure #Foetal medication or drug exposure #Maternal exposure history\n", + " definition of HP:0034756 (Fetal exposure history)\n", + " \n", + " \n", + " Variable expressivity\n", + " definition of HP:0003828 (Variable expressivity)\n", + " \n", + " \n", + " A variable severity of phenotypic features.\n", + " definition of HP:0003828 (Variable expressivity)\n", + " \n", + " \n", + " #Variable severity\n", + " definition of HP:0003828 (Variable expressivity)\n", + " \n", + " \n", + " Abnormal plasma cell count\n", + " definition of HP:0025617 (Abnormal plasma cell count)\n", + " \n", + " \n", + " An abnormal number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies.\n", + " definition of HP:0025617 (Abnormal plasma cell count)\n", + " \n", + " \n", + " Diminished mental health\n", + " definition of HP:0033667 (Diminished mental health)\n", + " \n", + " \n", + " A reduction in the subjective feeling of mental well being.\n", + " definition of HP:0033667 (Diminished mental health)\n", + " \n", + " \n", + " #Mental impairment #Reduced mental health\n", + " definition of HP:0033667 (Diminished mental health)\n", + " \n", + " \n", + " Spinal cord xanthomatosis\n", + " definition of HP:0034624 (Spinal cord xanthomatosis)\n", + " \n", + " \n", + " Lipid deposits localized within the spinal cord. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia.\n", + " definition of HP:0034624 (Spinal cord xanthomatosis)\n", + " \n", + " \n", + " #Spinal cord xanthomas\n", + " definition of HP:0034624 (Spinal cord xanthomatosis)\n", + " \n", + " \n", + " Lack of bowel sounds\n", + " definition of HP:0030145 (Lack of bowel sounds)\n", + " \n", + " \n", + " Complete lack of abdominal sounds as assayed by examination of the abdomen with a stethoscope.\n", + " definition of HP:0030145 (Lack of bowel sounds)\n", + " \n", + " \n", + " #Lack of bowel sounds\n", + " definition of HP:0030145 (Lack of bowel sounds)\n", + " \n", + " \n", + " Allesthesia\n", + " definition of HP:5200412 (Allesthesia)\n", + " \n", + " \n", + " Referral of a sensory stimulus from one side of the body to the other.\n", + " definition of HP:5200412 (Allesthesia)\n", + " \n", + " \n", + " Parasomnia\n", + " definition of HP:0025234 (Parasomnia)\n", + " \n", + " \n", + " An undesirable physical event or experience that occurs during the process of falling asleep, while asleep, or when waking up from sleep.\n", + " definition of HP:0025234 (Parasomnia)\n", + " \n", + " \n", + " #Event that disrupts sleep\n", + " definition of HP:0025234 (Parasomnia)\n", + " \n", + " \n", + " Celiac artery dissection\n", + " definition of HP:0033982 (Celiac artery dissection)\n", + " \n", + " \n", + " A separation (dissection) of the layers of the celiac artery wall.\n", + " definition of HP:0033982 (Celiac artery dissection)\n", + " \n", + " \n", + " Long second metacarpal\n", + " definition of HP:0006040 (Long second metacarpal)\n", + " \n", + " \n", + " #Long 2nd long bone of hand\n", + " definition of HP:0006040 (Long second metacarpal)\n", + " \n", + " \n", + " Cone-shaped epiphysis of the distal phalanx of the 4th toe\n", + " definition of HP:0100171 (Cone-shaped epiphysis of the distal phalanx of the 4th toe)\n", + " \n", + " \n", + " #Cone-shaped end part of the outermost bone of the 4th toe\n", + " definition of HP:0100171 (Cone-shaped epiphysis of the distal phalanx of the 4th toe)\n", + " \n", + " \n", + " Recurrent viral upper respiratory tract infections\n", + " definition of HP:0033166 (Recurrent viral upper respiratory tract infections)\n", + " \n", + " \n", + " An increased susceptibility to viral upper respiratory tract infections as manifested by a history of recurrent viral upper respiratory tract infections (otitis, sinusitis, pharyngitis, tonsillitis).\n", + " definition of HP:0033166 (Recurrent viral upper respiratory tract infections)\n", + " \n", + " \n", + " Elevated erythrocyte galactose-1-phosphate concentration\n", + " definition of HP:6000610 (Elevated erythrocyte galactose-1-phosphate concentration)\n", + " \n", + " \n", + " Concentration of galactose-1-phosphate in red blood cells (erythrocytes) above the upper level of normal.\n", + " definition of HP:6000610 (Elevated erythrocyte galactose-1-phosphate concentration)\n", + " \n", + " \n", + " Peripheral fixation\n", + " definition of HP:0031769 (Peripheral fixation)\n", + " \n", + " \n", + " Fixation of an object in a peripheral area of the retina.\n", + " definition of HP:0031769 (Peripheral fixation)\n", + " \n", + " \n", + " Pseudoepiphysis of the middle phalanx of the 3rd toe\n", + " definition of HP:0100153 (Pseudoepiphysis of the middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " Membranous cataract\n", + " definition of HP:0010922 (Membranous cataract)\n", + " \n", + " \n", + " A form of cataract in which the lens substance has shrunk, leaving a collapsed, flattened capsule with little or no cortex or epithelium on the lens.\n", + " definition of HP:0010922 (Membranous cataract)\n", + " \n", + " \n", + " Internal hemorrhage\n", + " definition of HP:0011029 (Internal hemorrhage)\n", + " \n", + " \n", + " The presence of hemorrhage within the body.\n", + " definition of HP:0011029 (Internal hemorrhage)\n", + " \n", + " \n", + " #Internal bleeding #Internal haemorrhage\n", + " definition of HP:0011029 (Internal hemorrhage)\n", + " \n", + " \n", + " Barrel-shaped tooth\n", + " definition of HP:0033779 (Barrel-shaped tooth)\n", + " \n", + " \n", + " A tooth crown with convex mesial and distal surfaces.\n", + " definition of HP:0033779 (Barrel-shaped tooth)\n", + " \n", + " \n", + " Complete cleft hard palate\n", + " definition of HP:5201003 (Complete cleft hard palate)\n", + " \n", + " \n", + " Cleft hard palate in which the cleft goes through the entire length of the hard palate, ie. from the incisor foramen to the anterior border of the soft palate.\n", + " definition of HP:5201003 (Complete cleft hard palate)\n", + " \n", + " \n", + " Aggravated by\n", + " definition of HP:0025285 (Aggravated by)\n", + " \n", + " \n", + " An aggravating factor is defined as an external factor that leads to a sign or symptom that is already present getting worse or becoming more severe.\n", + " definition of HP:0025285 (Aggravated by)\n", + " \n", + " \n", + " #Exacerbated by\n", + " definition of HP:0025285 (Aggravated by)\n", + " \n", + " \n", + " Abnormal amplitude of dark-adapted dim flash electroretinogram\n", + " definition of HP:0030476 (Abnormal amplitude of dark-adapted dim flash electroretinogram)\n", + " \n", + " \n", + " Decreased T cell activation\n", + " definition of HP:0005419 (Decreased T cell activation)\n", + " \n", + " \n", + " Decreased or impaired activation of T cells in response to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific.\n", + " definition of HP:0005419 (Decreased T cell activation)\n", + " \n", + " \n", + " #Decreased T lymphocyte activation #Decreased T-cell activation #Decreased T-lymphocyte activation #Defective T cell activation #Profound depletion of T4+ lymphocytes\n", + " definition of HP:0005419 (Decreased T cell activation)\n", + " \n", + " \n", + " Degenerative vitreoretinopathy\n", + " definition of HP:0007964 (Degenerative vitreoretinopathy)\n", + " \n", + " \n", + " Lymphocytic infiltration of the colorectal mucosa\n", + " definition of HP:0032216 (Lymphocytic infiltration of the colorectal mucosa)\n", + " \n", + " \n", + " Abnormally increased intraepithelial lymphocyte count. This finding may be appreciated as large numbers of surface intraepithelial lymphocytes as seen (for instance) with hematoxylin and eosin staining of a colonic biopsy sample taken during colonoscopy.\n", + " definition of HP:0032216 (Lymphocytic infiltration of the colorectal mucosa)\n", + " \n", + " \n", + " Anti-hY-RNA complex antibody positivity\n", + " definition of HP:0034144 (Anti-hY-RNA complex antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ro60.\n", + " definition of HP:0034144 (Anti-hY-RNA complex antibody positivity)\n", + " \n", + " \n", + " #Anti-Ro60 antibody positivity\n", + " definition of HP:0034144 (Anti-hY-RNA complex antibody positivity)\n", + " \n", + " \n", + " Hyperphenylalaninemia\n", + " definition of HP:0004923 (Hyperphenylalaninemia)\n", + " \n", + " \n", + " An increased concentration of L-phenylalanine in the blood.\n", + " definition of HP:0004923 (Hyperphenylalaninemia)\n", + " \n", + " \n", + " 10-minute APGAR score of 4\n", + " definition of HP:0033472 (10-minute APGAR score of 4)\n", + " \n", + " \n", + " Abnormal thumb morphology\n", + " definition of HP:0001172 (Abnormal thumb morphology)\n", + " \n", + " \n", + " An abnormal structure of the first digit of the hand.\n", + " definition of HP:0001172 (Abnormal thumb morphology)\n", + " \n", + " \n", + " #Abnormality of the thumb #Abnormality of the thumbs #Thumb deformity\n", + " definition of HP:0001172 (Abnormal thumb morphology)\n", + " \n", + " \n", + " Knee osteoarthritis\n", + " definition of HP:0005086 (Knee osteoarthritis)\n", + " \n", + " \n", + " Abnormal synaptic transmission at the neuromuscular junction\n", + " definition of HP:0003398 (Abnormal synaptic transmission at the neuromuscular junction)\n", + " \n", + " \n", + " Any abnormality of the neuromuscular junction, which is the synapse between the motor end plate of a motor neuron and the skeletal muscle fibers.\n", + " definition of HP:0003398 (Abnormal synaptic transmission at the neuromuscular junction)\n", + " \n", + " \n", + " Progressive proximal muscle weakness\n", + " definition of HP:0009073 (Progressive proximal muscle weakness)\n", + " \n", + " \n", + " Lack of strength of the proximal muscles that becomes progressively more severe.\n", + " definition of HP:0009073 (Progressive proximal muscle weakness)\n", + " \n", + " \n", + " #Muscle weakness, progressive, proximal\n", + " definition of HP:0009073 (Progressive proximal muscle weakness)\n", + " \n", + " \n", + " Spinal cord compression\n", + " definition of HP:0002176 (Spinal cord compression)\n", + " \n", + " \n", + " External mechanical compression of the spinal cord.\n", + " definition of HP:0002176 (Spinal cord compression)\n", + " \n", + " \n", + " #Pressure on spinal cord\n", + " definition of HP:0002176 (Spinal cord compression)\n", + " \n", + " \n", + " Heinz bodies\n", + " definition of HP:0020082 (Heinz bodies)\n", + " \n", + " \n", + " A type of erythrocyte inclusion composed of denatured hemoglobin.\n", + " definition of HP:0020082 (Heinz bodies)\n", + " \n", + " \n", + " Cortical radial artery intima/media arteriosclerosis\n", + " definition of HP:0033959 (Cortical radial artery intima/media arteriosclerosis)\n", + " \n", + " \n", + " Thickening of the intima of the cortical radial artery (also known as the interlobular artery) of the kidney characterized by fibrosis and/or duplication of the elastic lamina.\n", + " definition of HP:0033959 (Cortical radial artery intima/media arteriosclerosis)\n", + " \n", + " \n", + " #Arteriosclerosis within interlobular arterial intima/media\n", + " definition of HP:0033959 (Cortical radial artery intima/media arteriosclerosis)\n", + " \n", + " \n", + " Bradykinesia\n", + " definition of HP:0002067 (Bradykinesia)\n", + " \n", + " \n", + " Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement).\n", + " definition of HP:0002067 (Bradykinesia)\n", + " \n", + " \n", + " #Slow movements #Slowness of movements\n", + " definition of HP:0002067 (Bradykinesia)\n", + " \n", + " \n", + " Tessier number 6 facial cleft\n", + " definition of HP:0031578 (Tessier number 6 facial cleft)\n", + " \n", + " \n", + " A facial cleft extending from the zygomatic arch to the eye. This zygomaticomaxillary cleft is similar to that typically found in Treacher Collins syndrome. The overlying tissue shows a vertical sclerodermic furrow radiating from the labial commissure or the angle of the mandible across the cheek to a coloboma of the lower eyelid between the middle and lateral one-third. Microphthalmia is not observed. The skeletal cleft is between the maxilla and zygoma; it passes through the inferolateral orbital rim to enter the inferior orbital fissure. No alveolar cleft is present. The zygomatic arch is intact. The soft tissue furrow, which is more apparent on the right, radiates from the oral commissure toward the lateral two-thirds of the lower eyelid. The antimongoloid obliquity of the palpebral fissures is associated with laterally placed lower eyelid clefts and some ectropion. A left-sided anophthalmia is accompanied by adjacent soft tissue hypoplasia and is reflected in a short palpebral fissure, enophthalmos, and minor ptosis of the eyebrow. No abnormality is present in the alveolar arch except for some tilting of the occlusal plane secondary to hypoplasia of the left side of the maxilla. There is a vertical bony groove in the region of the zygomaticomaxillary suture that ends in the inferolateral portion of a small bony orbit. More laterally, the remainder of the zygomatic body and arch is normal in both shape and dimension. The lateral orbital floor is downslanting but intact, and it lacks direct communication with the temporal or infratemporal fossae. The hypoplasia of the left side of the maxilla and orbit is associated with a reduction in the transverse and anteroposterior dimensions of the anterior cranial fossa; mild asymmetry of the middle cranial fossa and calvarium is present. No significant asymmetry of size, shape, or position is present in the sphenoid.\n", + " definition of HP:0031578 (Tessier number 6 facial cleft)\n", + " \n", + " \n", + " #Tessier facial cleft number 6\n", + " definition of HP:0031578 (Tessier number 6 facial cleft)\n", + " \n", + " \n", + " Anti-Kv1.4 antibody\n", + " definition of HP:5000048 (Anti-Kv1.4 antibody)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the voltage-gated potassium channel Kv1.4.\n", + " definition of HP:5000048 (Anti-Kv1.4 antibody)\n", + " \n", + " \n", + " Reduced tissue tissue AICAR transformylase activity\n", + " definition of HP:6000349 (Reduced tissue tissue AICAR transformylase activity)\n", + " \n", + " \n", + " Concentration or activity of 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase; EC 2.1.2.3) a in a tissue is below the lower limit of normal.\n", + " definition of HP:6000349 (Reduced tissue tissue AICAR transformylase activity)\n", + " \n", + " \n", + " Aglossia\n", + " definition of HP:0012730 (Aglossia)\n", + " \n", + " \n", + " Absence of the tongue owing to a developmental abnormality.\n", + " definition of HP:0012730 (Aglossia)\n", + " \n", + " \n", + " #Absence of tongue #Failure of development of tongue\n", + " definition of HP:0012730 (Aglossia)\n", + " \n", + " \n", + " Chronic bronchitis\n", + " definition of HP:0004469 (Chronic bronchitis)\n", + " \n", + " \n", + " Chronic inflammation of the bronchi.\n", + " definition of HP:0004469 (Chronic bronchitis)\n", + " \n", + " \n", + " Aplasia of the distal phalanges of the toes\n", + " definition of HP:0010645 (Aplasia of the distal phalanges of the toes)\n", + " \n", + " \n", + " Absence of the distal phalanges of the toes.\n", + " definition of HP:0010645 (Aplasia of the distal phalanges of the toes)\n", + " \n", + " \n", + " #Absent outermost bone of the toes\n", + " definition of HP:0010645 (Aplasia of the distal phalanges of the toes)\n", + " \n", + " \n", + " Cephalocele\n", + " definition of HP:0011815 (Cephalocele)\n", + " \n", + " \n", + " A congenital defect in the skull, whereby there is a protrusion of part of the cranial contents through a congenital defect in the cranium, usually covered with skin or mucous membrane. The term encephalocele refers to a subclass of these lesions in which brain tissue protrudes through the defect.\n", + " definition of HP:0011815 (Cephalocele)\n", + " \n", + " \n", + " Birth length less than 3rd percentile\n", + " definition of HP:0003561 (Birth length less than 3rd percentile)\n", + " \n", + " \n", + " #Birth length < 3rd percentile #Birth length <3rd percentile\n", + " definition of HP:0003561 (Birth length less than 3rd percentile)\n", + " \n", + " \n", + " Focal EEG discharges with propagation to ipsilateral hemisphere\n", + " definition of HP:0011187 (Focal EEG discharges with propagation to ipsilateral hemisphere)\n", + " \n", + " \n", + " Focal epileptiform discharges with spreading to the hemisphere on the same side of the brain.\n", + " definition of HP:0011187 (Focal EEG discharges with propagation to ipsilateral hemisphere)\n", + " \n", + " \n", + " Head and neck distribution\n", + " definition of HP:6000856 (Head and neck distribution)\n", + " \n", + " \n", + " Applies to an abnormality that is situated in (or predominant in) the head and neck region.\n", + " definition of HP:6000856 (Head and neck distribution)\n", + " \n", + " \n", + " Chylous ascites\n", + " definition of HP:0012281 (Chylous ascites)\n", + " \n", + " \n", + " Extravasation of chyle into the peritoneal cavity.\n", + " definition of HP:0012281 (Chylous ascites)\n", + " \n", + " \n", + " #Chyloperitoneum\n", + " definition of HP:0012281 (Chylous ascites)\n", + " \n", + " \n", + " Cupped ulnar metaphysis\n", + " definition of HP:0004041 (Cupped ulnar metaphysis)\n", + " \n", + " \n", + " Juvenile onset\n", + " definition of HP:0003621 (Juvenile onset)\n", + " \n", + " \n", + " Onset of signs or symptoms of disease between the age of 5 and 15 years.\n", + " definition of HP:0003621 (Juvenile onset)\n", + " \n", + " \n", + " #Signs and symptoms begin before 15 years of age\n", + " definition of HP:0003621 (Juvenile onset)\n", + " \n", + " \n", + " Abnormal skin adnexa morphology\n", + " definition of HP:0011138 (Abnormal skin adnexa morphology)\n", + " \n", + " \n", + " An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands.\n", + " definition of HP:0011138 (Abnormal skin adnexa morphology)\n", + " \n", + " \n", + " #Abnormal skin appendage #Abnormality of skin adnexa morphology\n", + " definition of HP:0011138 (Abnormal skin adnexa morphology)\n", + " \n", + " \n", + " Increased circulating creatine kinase MB isoform\n", + " definition of HP:0032232 (Increased circulating creatine kinase MB isoform)\n", + " \n", + " \n", + " An increased concentration of the MB isoform of creatine kinase in the blood circulation.\n", + " definition of HP:0032232 (Increased circulating creatine kinase MB isoform)\n", + " \n", + " \n", + " #Increased circulating CK MB isoform\n", + " definition of HP:0032232 (Increased circulating creatine kinase MB isoform)\n", + " \n", + " \n", + " Excessive checking\n", + " definition of HP:5200050 (Excessive checking)\n", + " \n", + " \n", + " Checking behavior that is excessive for the situational context.\n", + " definition of HP:5200050 (Excessive checking)\n", + " \n", + " \n", + " #Checking behaviors #Checking behaviours\n", + " definition of HP:5200050 (Excessive checking)\n", + " \n", + " \n", + " Hypoplasia of the corpus callosum\n", + " definition of HP:0002079 (Hypoplasia of the corpus callosum)\n", + " \n", + " \n", + " Underdevelopment of the corpus callosum.\n", + " definition of HP:0002079 (Hypoplasia of the corpus callosum)\n", + " \n", + " \n", + " #Corpus callosum hypoplasia #Hypoplasia of corpus callosum #Hypoplastic corpus callosum #Underdevelopment of part of brain called corpus callosum\n", + " definition of HP:0002079 (Hypoplasia of the corpus callosum)\n", + " \n", + " \n", + " Limb dystonia\n", + " definition of HP:0002451 (Limb dystonia)\n", + " \n", + " \n", + " A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs.\n", + " definition of HP:0002451 (Limb dystonia)\n", + " \n", + " \n", + " Short toe\n", + " definition of HP:0001831 (Short toe)\n", + " \n", + " \n", + " A toe that appears disproportionately short compared to the foot.\n", + " definition of HP:0001831 (Short toe)\n", + " \n", + " \n", + " #Brachydactyly of the foot #Hypoplasia of the toe #Hypoplastic toes #Short foot phalanges #Short toe #Short toes #Stubby toes\n", + " definition of HP:0001831 (Short toe)\n", + " \n", + " \n", + " Uterine prolapse\n", + " definition of HP:0000139 (Uterine prolapse)\n", + " \n", + " \n", + " The presence of prolapse of the uterus.\n", + " definition of HP:0000139 (Uterine prolapse)\n", + " \n", + " \n", + " #Sagging uterus\n", + " definition of HP:0000139 (Uterine prolapse)\n", + " \n", + " \n", + " Postnatal growth retardation\n", + " definition of HP:0008897 (Postnatal growth retardation)\n", + " \n", + " \n", + " Slow or limited growth after birth.\n", + " definition of HP:0008897 (Postnatal growth retardation)\n", + " \n", + " \n", + " #Growth delay as children #Growth retardation as children #Postnatal growth deceleration #Postnatal growth deficiency #Postnatal growth failure\n", + " definition of HP:0008897 (Postnatal growth retardation)\n", + " \n", + " \n", + " Morbilliform rash\n", + " definition of HP:0012282 (Morbilliform rash)\n", + " \n", + " \n", + " An exanthema consisting of widespread pink-to-red macules (flat spots of 2-10 mm in diameter) or papules (red bumps) that blanch with pressure. The macules and papules may cluster and merge to form sheets over several days.\n", + " definition of HP:0012282 (Morbilliform rash)\n", + " \n", + " \n", + " Elevated jugular venous pressure\n", + " definition of HP:0030848 (Elevated jugular venous pressure)\n", + " \n", + " \n", + " Increased jugular venous pressure.\n", + " definition of HP:0030848 (Elevated jugular venous pressure)\n", + " \n", + " \n", + " Ankle joint effusion\n", + " definition of HP:0032063 (Ankle joint effusion)\n", + " \n", + " \n", + " Abnormal accumulation of fluid in or around the ankle joint.\n", + " definition of HP:0032063 (Ankle joint effusion)\n", + " \n", + " \n", + " Anteriorly displaced genitalia\n", + " definition of HP:0003252 (Anteriorly displaced genitalia)\n", + " \n", + " \n", + " Absent lanugo\n", + " definition of HP:0034262 (Absent lanugo)\n", + " \n", + " \n", + " Lack of development of lanugo, the fine, soft, unpigmented hair on the body of a fetus or newborn baby.\n", + " definition of HP:0034262 (Absent lanugo)\n", + " \n", + " \n", + " Increased circulating very long-chain fatty acid concentration\n", + " definition of HP:0033643 (Increased circulating very long-chain fatty acid concentration)\n", + " \n", + " \n", + " Increased concentration of very long-chain fatty acids in the blood circulation. Very long-chain fatty acids are fatty acids (FAs) with a chain-length of 22 or more carbons.\n", + " definition of HP:0033643 (Increased circulating very long-chain fatty acid concentration)\n", + " \n", + " \n", + " #Increased plasma levels of very long-chain fatty acid\n", + " definition of HP:0033643 (Increased circulating very long-chain fatty acid concentration)\n", + " \n", + " \n", + " Social and occupational deterioration\n", + " definition of HP:0007086 (Social and occupational deterioration)\n", + " \n", + " \n", + " Mesenteric venous thrombosis\n", + " definition of HP:0030248 (Mesenteric venous thrombosis)\n", + " \n", + " \n", + " A clot that obstructs blood flow in a mesenteric vein (the superior and the inferior mesenteric vein drain blood from the small and large intestine).\n", + " definition of HP:0030248 (Mesenteric venous thrombosis)\n", + " \n", + " \n", + " #Blood clot in mesentertic vein\n", + " definition of HP:0030248 (Mesenteric venous thrombosis)\n", + " \n", + " \n", + " Abnormal single motor unit action potential\n", + " definition of HP:0033767 (Abnormal single motor unit action potential)\n", + " \n", + " \n", + " Abnormally high or low single motor unit action potential reading (-Pk Amps).\n", + " definition of HP:0033767 (Abnormal single motor unit action potential)\n", + " \n", + " \n", + " Abnormal circulating organic compound concentration\n", + " definition of HP:0430071 (Abnormal circulating organic compound concentration)\n", + " \n", + " \n", + " Any deviation of the concentration of an orrganic compound from the normal range. An organic compound is defined as any compound that contains a carbon atom.\n", + " definition of HP:0430071 (Abnormal circulating organic compound concentration)\n", + " \n", + " \n", + " Clumsiness\n", + " definition of HP:0002312 (Clumsiness)\n", + " \n", + " \n", + " Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects.\n", + " definition of HP:0002312 (Clumsiness)\n", + " \n", + " \n", + " #Clumsiness\n", + " definition of HP:0002312 (Clumsiness)\n", + " \n", + " \n", + " Abnormality of the radial head\n", + " definition of HP:0003995 (Abnormality of the radial head)\n", + " \n", + " \n", + " #Deformity of radial heads\n", + " definition of HP:0003995 (Abnormality of the radial head)\n", + " \n", + " \n", + " Increased level of D-threitol in urine\n", + " definition of HP:0410059 (Increased level of D-threitol in urine)\n", + " \n", + " \n", + " An increase in the level of D-threitol in the urine.\n", + " definition of HP:0410059 (Increased level of D-threitol in urine)\n", + " \n", + " \n", + " Abnormal circulating corticosterone level\n", + " definition of HP:0012112 (Abnormal circulating corticosterone level)\n", + " \n", + " \n", + " An abnormality of the concentration of corticosterone in the blood.\n", + " definition of HP:0012112 (Abnormal circulating corticosterone level)\n", + " \n", + " \n", + " #Abnormality of circulating corticosterone level\n", + " definition of HP:0012112 (Abnormal circulating corticosterone level)\n", + " \n", + " \n", + " Abnormality of the epiphysis of the distal phalanx of the 3rd toe\n", + " definition of HP:0100091 (Abnormality of the epiphysis of the distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Abnormality of the end part of the outermost bone of the 3rd toe\n", + " definition of HP:0100091 (Abnormality of the epiphysis of the distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Abnormal oral cavity morphology\n", + " definition of HP:0000163 (Abnormal oral cavity morphology)\n", + " \n", + " \n", + " Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth.\n", + " definition of HP:0000163 (Abnormal oral cavity morphology)\n", + " \n", + " \n", + " #Abnormality of the oral cavity\n", + " definition of HP:0000163 (Abnormal oral cavity morphology)\n", + " \n", + " \n", + " Short phalanx of the 5th toe\n", + " definition of HP:0100368 (Short phalanx of the 5th toe)\n", + " \n", + " \n", + " Developmental hypoplasia of one or more phalanx of little toe.\n", + " definition of HP:0100368 (Short phalanx of the 5th toe)\n", + " \n", + " \n", + " #Hypoplastic/small phalanges of the 5th toe #Short little toe bone #Short phalanx of the fifth toe #Short pinkie toe bone #Short pinky toe bone\n", + " definition of HP:0100368 (Short phalanx of the 5th toe)\n", + " \n", + " \n", + " Thin vermilion border\n", + " definition of HP:0000233 (Thin vermilion border)\n", + " \n", + " \n", + " Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips).\n", + " definition of HP:0000233 (Thin vermilion border)\n", + " \n", + " \n", + " #Decreased volume of lip #Decreased volume of lip vermillion #Thin lips #Thin vermillion\n", + " definition of HP:0000233 (Thin vermilion border)\n", + " \n", + " \n", + " Glomerular basement membrane spikes\n", + " definition of HP:0033288 (Glomerular basement membrane spikes)\n", + " \n", + " \n", + " Snowstorm pattern of uterus on ultrasound\n", + " definition of HP:6000053 (Snowstorm pattern of uterus on ultrasound)\n", + " \n", + " \n", + " A sonographic snowstorm pattern of the uterusresults from the presence of a complex vesicular intrauterine mass containing many grape-like cysts.\n", + " definition of HP:6000053 (Snowstorm pattern of uterus on ultrasound)\n", + " \n", + " \n", + " Granulomatous coronary arteritis\n", + " definition of HP:0006679 (Granulomatous coronary arteritis)\n", + " \n", + " \n", + " Inflammation of the coronary arteries involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells.\n", + " definition of HP:0006679 (Granulomatous coronary arteritis)\n", + " \n", + " \n", + " HbH hemoglobin\n", + " definition of HP:0011903 (HbH hemoglobin)\n", + " \n", + " \n", + " Hemoglobin H (HbH) contains four beta-globin chains. It is normally not present at all in blood, but may make up about 1-40 percent of all hemoglobin in HbH disease, a subform of alpha thalassemia.\n", + " definition of HP:0011903 (HbH hemoglobin)\n", + " \n", + " \n", + " #Haemoglobin H #HbH haemoglobin #Hemoglobin H\n", + " definition of HP:0011903 (HbH hemoglobin)\n", + " \n", + " \n", + " Aplasia involving bones of the upper limbs\n", + " definition of HP:0009823 (Aplasia involving bones of the upper limbs)\n", + " \n", + " \n", + " #Absent bones of the upper limbs\n", + " definition of HP:0009823 (Aplasia involving bones of the upper limbs)\n", + " \n", + " \n", + " Recurrent bronchiolitis\n", + " definition of HP:0100501 (Recurrent bronchiolitis)\n", + " \n", + " \n", + " An increased susceptibility to bronchiolitis as manifested by a history of recurrent bronchiolitis.\n", + " definition of HP:0100501 (Recurrent bronchiolitis)\n", + " \n", + " \n", + " Right ventricular aneurysm\n", + " definition of HP:6000667 (Right ventricular aneurysm)\n", + " \n", + " \n", + " A localized, abnormal dilation or bulging of a portion of the right ventricular wall.\n", + " definition of HP:6000667 (Right ventricular aneurysm)\n", + " \n", + " \n", + " #Right ventricular outpouching\n", + " definition of HP:6000667 (Right ventricular aneurysm)\n", + " \n", + " \n", + " Focal impaired awareness cognitive seizure with conduction dysphasia/aphasia\n", + " definition of HP:0032852 (Focal impaired awareness cognitive seizure with conduction dysphasia/aphasia)\n", + " \n", + " \n", + " A focal cognitive seizure with conduction dysphasia / aphasia characterized by impairment of awareness at some point during the seizure.\n", + " definition of HP:0032852 (Focal impaired awareness cognitive seizure with conduction dysphasia/aphasia)\n", + " \n", + " \n", + " Selective mutism\n", + " definition of HP:5200001 (Selective mutism)\n", + " \n", + " \n", + " Voluntary failure to use spoken language (at whatever level attained) in selective social contexts over a period of time.\n", + " definition of HP:5200001 (Selective mutism)\n", + " \n", + " \n", + " Antigliadin antibody positivity\n", + " definition of HP:4000029 (Antigliadin antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against gliadin.\n", + " definition of HP:4000029 (Antigliadin antibody positivity)\n", + " \n", + " \n", + " #AGA autoantibodies\n", + " definition of HP:4000029 (Antigliadin antibody positivity)\n", + " \n", + " \n", + " Duplication of distal phalanx of toe\n", + " definition of HP:0010193 (Duplication of distal phalanx of toe)\n", + " \n", + " \n", + " A partial or complete duplication of one or more distal phalanx of toe.\n", + " definition of HP:0010193 (Duplication of distal phalanx of toe)\n", + " \n", + " \n", + " #Duplication of outermost bone of toe #Partial/complete duplication of the distal phalanges of the toes\n", + " definition of HP:0010193 (Duplication of distal phalanx of toe)\n", + " \n", + " \n", + " Motor deterioration\n", + " definition of HP:0002333 (Motor deterioration)\n", + " \n", + " \n", + " Loss of previously present motor (i.e., movement) abilities.\n", + " definition of HP:0002333 (Motor deterioration)\n", + " \n", + " \n", + " #Progressive degeneration of movement\n", + " definition of HP:0002333 (Motor deterioration)\n", + " \n", + " \n", + " Muscular vasculitis\n", + " definition of HP:0034789 (Muscular vasculitis)\n", + " \n", + " \n", + " #Skeletal muscle vasculitis\n", + " definition of HP:0034789 (Muscular vasculitis)\n", + " \n", + " \n", + " Increased triceps skinfold thickness\n", + " definition of HP:0033172 (Increased triceps skinfold thickness)\n", + " \n", + " \n", + " Increased thickness of the triceps skinfold, which is measured halfway down the back of the upper arm is increased.\n", + " definition of HP:0033172 (Increased triceps skinfold thickness)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the testes\n", + " definition of HP:0010468 (Aplasia/Hypoplasia of the testes)\n", + " \n", + " \n", + " Absence or underdevelopment of the testes.\n", + " definition of HP:0010468 (Aplasia/Hypoplasia of the testes)\n", + " \n", + " \n", + " #Absent/small testes #Absent/underdeveloped testes\n", + " definition of HP:0010468 (Aplasia/Hypoplasia of the testes)\n", + " \n", + " \n", + " Restricted chest movement\n", + " definition of HP:0006596 (Restricted chest movement)\n", + " \n", + " \n", + " #Restricted chest movement\n", + " definition of HP:0006596 (Restricted chest movement)\n", + " \n", + " \n", + " Ameliorated by flexion\n", + " definition of HP:6000050 (Ameliorated by flexion)\n", + " \n", + " \n", + " Applies to a sign or symptom that is improved or made more bearable by bending (flexing) a joint.\n", + " definition of HP:6000050 (Ameliorated by flexion)\n", + " \n", + " \n", + " Anti-GM1 IgG antibody positivity\n", + " definition of HP:0034112 (Anti-GM1 IgG antibody positivity)\n", + " \n", + " \n", + " The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against GM1.\n", + " definition of HP:0034112 (Anti-GM1 IgG antibody positivity)\n", + " \n", + " \n", + " Membranous subvalvular aortic stenosis\n", + " definition of HP:0005174 (Membranous subvalvular aortic stenosis)\n", + " \n", + " \n", + " Subvalvular stenosis is caused by a diaphragm-like membrane. The stenosis is clinically manifested like any other form of aortic stenosis but is often associated with some aortic insufficiency.\n", + " definition of HP:0005174 (Membranous subvalvular aortic stenosis)\n", + " \n", + " \n", + " Mastocytosis\n", + " definition of HP:0100495 (Mastocytosis)\n", + " \n", + " \n", + " The presence of an increased number of mast cells and CD34+ mast cell precursors in the body.\n", + " definition of HP:0100495 (Mastocytosis)\n", + " \n", + " \n", + " Elevated circulating CA19-9 concentration\n", + " definition of HP:0034603 (Elevated circulating CA19-9 concentration)\n", + " \n", + " \n", + " Concentration of CA19-9 above the upper limit of normal.\n", + " definition of HP:0034603 (Elevated circulating CA19-9 concentration)\n", + " \n", + " \n", + " #Elevated circulating cancer antigen 19-9 concentration #Elevated circulating carbohydrate antigen 19-9 concentration #Elevated circulating sialylated Lewis a antigen concentration\n", + " definition of HP:0034603 (Elevated circulating CA19-9 concentration)\n", + " \n", + " \n", + " Abnormal appendicular skeleton morphology\n", + " definition of HP:0011844 (Abnormal appendicular skeleton morphology)\n", + " \n", + " \n", + " An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles.\n", + " definition of HP:0011844 (Abnormal appendicular skeleton morphology)\n", + " \n", + " \n", + " Telangiectasia macularis eruptiva perstans\n", + " definition of HP:0007583 (Telangiectasia macularis eruptiva perstans)\n", + " \n", + " \n", + " Positive gastric CMV intranuclear inclusions\n", + " definition of HP:6001005 (Positive gastric CMV intranuclear inclusions)\n", + " \n", + " \n", + " Demonstration of the presence of cytomegalovirus in the stomach by means of a method such as in-situ hybridization.\n", + " definition of HP:6001005 (Positive gastric CMV intranuclear inclusions)\n", + " \n", + " \n", + " Early onset of sexual maturation\n", + " definition of HP:0100000 (Early onset of sexual maturation)\n", + " \n", + " \n", + " An early onset of puberty, in this case early does not refer to precocious.\n", + " definition of HP:0100000 (Early onset of sexual maturation)\n", + " \n", + " \n", + " #Early onset of sexual maturation\n", + " definition of HP:0100000 (Early onset of sexual maturation)\n", + " \n", + " \n", + " Aplastic/Hypoplastic nasopharyngeal adenoids\n", + " definition of HP:0040256 (Aplastic/Hypoplastic nasopharyngeal adenoids)\n", + " \n", + " \n", + " Absence or underdevelopment of the nasopharyngeal adenoids.\n", + " definition of HP:0040256 (Aplastic/Hypoplastic nasopharyngeal adenoids)\n", + " \n", + " \n", + " Partial absence of toe\n", + " definition of HP:0011305 (Partial absence of toe)\n", + " \n", + " \n", + " The absence of a phalangeal segment of a toe or hallux.\n", + " definition of HP:0011305 (Partial absence of toe)\n", + " \n", + " \n", + " #Hypophalangy of toes #Partial absence of toe\n", + " definition of HP:0011305 (Partial absence of toe)\n", + " \n", + " \n", + " Decreased circulating apolipoprotein A-II concentration\n", + " definition of HP:0034602 (Decreased circulating apolipoprotein A-II concentration)\n", + " \n", + " \n", + " Concentration of apolipoprotein A-II below the lower limit of normal.\n", + " definition of HP:0034602 (Decreased circulating apolipoprotein A-II concentration)\n", + " \n", + " \n", + " #Apolipoprotein A-II low in blood\n", + " definition of HP:0034602 (Decreased circulating apolipoprotein A-II concentration)\n", + " \n", + " \n", + " Anisocytosis\n", + " definition of HP:0011273 (Anisocytosis)\n", + " \n", + " \n", + " Abnormally increased variability in the size of erythrocytes.\n", + " definition of HP:0011273 (Anisocytosis)\n", + " \n", + " \n", + " #Unequal size of red blood cells\n", + " definition of HP:0011273 (Anisocytosis)\n", + " \n", + " \n", + " Malar flattening\n", + " definition of HP:0000272 (Malar flattening)\n", + " \n", + " \n", + " Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.\n", + " definition of HP:0000272 (Malar flattening)\n", + " \n", + " \n", + " #Decreased size of malar bone #Depressed malar region #Flat cheekbone #Malar hypoplasia #Underdevelopment of malar bone #Zygomatic flattening\n", + " definition of HP:0000272 (Malar flattening)\n", + " \n", + " \n", + " Short distal phalanx of the thumb\n", + " definition of HP:0009650 (Short distal phalanx of the thumb)\n", + " \n", + " \n", + " Hypoplastic (short) distal phalanx of the thumb.\n", + " definition of HP:0009650 (Short distal phalanx of the thumb)\n", + " \n", + " \n", + " #Hypoplastic terminal thumb phalanx #Hypoplastic/small distal phalanx of the thumb #Short outermost bone of the thumb #Short terminal thumb phalanx #Short thumb terminal phalanx #Small terminal thumb phalanx\n", + " definition of HP:0009650 (Short distal phalanx of the thumb)\n", + " \n", + " \n", + " Duplication of phalanx of the 3rd toe\n", + " definition of HP:0010367 (Duplication of phalanx of the 3rd toe)\n", + " \n", + " \n", + " Partial or complete duplication of phalanx of third toe.\n", + " definition of HP:0010367 (Duplication of phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Duplication of 3rd toe bone #Duplication of phalanx of the third toe #Partial/complete duplication of the phalanges of the 3rd toe\n", + " definition of HP:0010367 (Duplication of phalanx of the 3rd toe)\n", + " \n", + " \n", + " Candida esophagitis\n", + " definition of HP:0033351 (Candida esophagitis)\n", + " \n", + " \n", + " Candida infections of the esophagus are considered opportunistic infections and are seen most commonly in immunosuppressed patients, the most common symptoms being dysphagia, odynophagia, and retrosternal pain.\n", + " definition of HP:0033351 (Candida esophagitis)\n", + " \n", + " \n", + " #Esophageal candidiasis\n", + " definition of HP:0033351 (Candida esophagitis)\n", + " \n", + " \n", + " Sparse eyebrow\n", + " definition of HP:0045075 (Sparse eyebrow)\n", + " \n", + " \n", + " Decreased density/number of eyebrow hairs.\n", + " definition of HP:0045075 (Sparse eyebrow)\n", + " \n", + " \n", + " #Hypotrichosis of eyebrow #Sparse eyebrow #Sparse eyebrows\n", + " definition of HP:0045075 (Sparse eyebrow)\n", + " \n", + " \n", + " Spotty hyperpigmentation\n", + " definition of HP:0005585 (Spotty hyperpigmentation)\n", + " \n", + " \n", + " #Patchy hyperpigmentation #Spotty increased pigmentation\n", + " definition of HP:0005585 (Spotty hyperpigmentation)\n", + " \n", + " \n", + " Peripheral arterial calcification\n", + " definition of HP:0031301 (Peripheral arterial calcification)\n", + " \n", + " \n", + " An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall.\n", + " definition of HP:0031301 (Peripheral arterial calcification)\n", + " \n", + " \n", + " #Peripheral artery calcification\n", + " definition of HP:0031301 (Peripheral arterial calcification)\n", + " \n", + " \n", + " Abnormal central sensory function\n", + " definition of HP:0011730 (Abnormal central sensory function)\n", + " \n", + " \n", + " An abnormality of sensation related to CNS function. Assuming the primary sensory modalities are intact and the patient is alert and cooperative, the presence of an abnormality of sensory function may indicate a lesion of a parietal cortex, the thalamocortical projections to the parietal cortex, or the spinal cord.\n", + " definition of HP:0011730 (Abnormal central sensory function)\n", + " \n", + " \n", + " #Abnormality of central sensory function\n", + " definition of HP:0011730 (Abnormal central sensory function)\n", + " \n", + " \n", + " Increased lymph-node cellular CD19 expression\n", + " definition of HP:0020294 (Increased lymph-node cellular CD19 expression)\n", + " \n", + " \n", + " Increased levels of CD19 expression compared to normal B cells.\n", + " definition of HP:0020294 (Increased lymph-node cellular CD19 expression)\n", + " \n", + " \n", + " Skin nodule\n", + " definition of HP:0200036 (Skin nodule)\n", + " \n", + " \n", + " Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat.\n", + " definition of HP:0200036 (Skin nodule)\n", + " \n", + " \n", + " #Growth of abnormal tissue on or under the skin\n", + " definition of HP:0200036 (Skin nodule)\n", + " \n", + " \n", + " Elevated circulating 1-methylhistidine concentration\n", + " definition of HP:0033301 (Elevated circulating 1-methylhistidine concentration)\n", + " \n", + " \n", + " An abnormally increased level of 1-methylhistidine in the blood circulation. 1-methylhistidine is a derivative of L-histidine.\n", + " definition of HP:0033301 (Elevated circulating 1-methylhistidine concentration)\n", + " \n", + " \n", + " Vaginal foreign body sensation\n", + " definition of HP:0034806 (Vaginal foreign body sensation)\n", + " \n", + " \n", + " A perception that an object located in the vagina.\n", + " definition of HP:0034806 (Vaginal foreign body sensation)\n", + " \n", + " \n", + " Abnormal fetal cardiovascular morphology\n", + " definition of HP:0010948 (Abnormal fetal cardiovascular morphology)\n", + " \n", + " \n", + " A structural abnormality of the fetal circulation system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.\n", + " definition of HP:0010948 (Abnormal fetal cardiovascular morphology)\n", + " \n", + " \n", + " #Abnormality of the fetal cardiovascular system #Abnormality of the fetal circulation system #Abnormality of the foetal cardiovascular system #Abnormality of the foetal circulation system\n", + " definition of HP:0010948 (Abnormal fetal cardiovascular morphology)\n", + " \n", + " \n", + " Osteolysis involving bones of the upper limbs\n", + " definition of HP:0045039 (Osteolysis involving bones of the upper limbs)\n", + " \n", + " \n", + " Ballooning hepatocyte degeneration\n", + " definition of HP:0033193 (Ballooning hepatocyte degeneration)\n", + " \n", + " \n", + " Swelling of the hepatocyte, rounding of its contour, and alteration of the cytoplasm, which takes on a reticulated, rarefied, or flocculant quality. The cytoplasm of the ballooned hepatocytes often contains clumps of eosinophilic ropey material known as Mallory-Denk bodies (MDBs) or Mallory hyaline, which is composed of hyperphosphorylated misfolded intermediate filaments, ubiquitin, and ubiquitin-binding protein P62.\n", + " definition of HP:0033193 (Ballooning hepatocyte degeneration)\n", + " \n", + " \n", + " #Ballooning degeneration of hepatocytes\n", + " definition of HP:0033193 (Ballooning hepatocyte degeneration)\n", + " \n", + " \n", + " Increased circulating heparan sulfate level\n", + " definition of HP:0410342 (Increased circulating heparan sulfate level)\n", + " \n", + " \n", + " An abnormal increase in the concentration of heparan sulfate in the blood.\n", + " definition of HP:0410342 (Increased circulating heparan sulfate level)\n", + " \n", + " \n", + " #Increased blood heparan sulfate concentration #Increased blood heparan sulphate concentration #Increased circulating heparan sulphate level\n", + " definition of HP:0410342 (Increased circulating heparan sulfate level)\n", + " \n", + " \n", + " Abnormal metatarsal morphology\n", + " definition of HP:0001832 (Abnormal metatarsal morphology)\n", + " \n", + " \n", + " Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes).\n", + " definition of HP:0001832 (Abnormal metatarsal morphology)\n", + " \n", + " \n", + " #Abnormality of the long bone of foot\n", + " definition of HP:0001832 (Abnormal metatarsal morphology)\n", + " \n", + " \n", + " Focal cognitive seizure with dyscalculia/acalculia\n", + " definition of HP:0032691 (Focal cognitive seizure with dyscalculia/acalculia)\n", + " \n", + " \n", + " A focal cognitive seizure characterized by dyscalculia / acalculia as the initial semiological manifestation.\n", + " definition of HP:0032691 (Focal cognitive seizure with dyscalculia/acalculia)\n", + " \n", + " \n", + " Acromicria\n", + " definition of HP:0031878 (Acromicria)\n", + " \n", + " \n", + " Small hands and feet in proportion to the rest of the body.\n", + " definition of HP:0031878 (Acromicria)\n", + " \n", + " \n", + " Insulin insensitivity\n", + " definition of HP:0008189 (Insulin insensitivity)\n", + " \n", + " \n", + " Decreased sensitivity toward insulin.\n", + " definition of HP:0008189 (Insulin insensitivity)\n", + " \n", + " \n", + " 3-5 finger cutaneous syndactyly\n", + " definition of HP:6000505 (3-5 finger cutaneous syndactyly)\n", + " \n", + " \n", + " A soft tissue continuity in the anteroposterior axis between the third to the fifth fingers that extends distally to at least the level of the proximal interphalangeal joints.\n", + " definition of HP:6000505 (3-5 finger cutaneous syndactyly)\n", + " \n", + " \n", + " #Soft tissue syndactyly of fingers 3-5, #Webbed 3th, 4th, and 5th finger #Webbed third, fourth, and fifth finger\n", + " definition of HP:6000505 (3-5 finger cutaneous syndactyly)\n", + " \n", + " \n", + " Decreased circulating 12-HETE\n", + " definition of HP:0032575 (Decreased circulating 12-HETE)\n", + " \n", + " \n", + " A reduction in the concentration of 12-HETE in the blood circulation, a metabolite of arachidonic acid.\n", + " definition of HP:0032575 (Decreased circulating 12-HETE)\n", + " \n", + " \n", + " #Decreased circulating 12-Hydroxyeicosatetraenoic acid concentration\n", + " definition of HP:0032575 (Decreased circulating 12-HETE)\n", + " \n", + " \n", + " Total hyposmia\n", + " definition of HP:0010634 (Total hyposmia)\n", + " \n", + " \n", + " Reduced ability to detect any qualitative olfactory sensation.\n", + " definition of HP:0010634 (Total hyposmia)\n", + " \n", + " \n", + " Tzanck smear with multinucleated giant cells\n", + " definition of HP:6000800 (Tzanck smear with multinucleated giant cells)\n", + " \n", + " \n", + " Tzanck smear demonstrates multinucleated giant cells, a sign that is suggestive for herpetic infections. Such smears are taken from skin lesions and display multinucleated cells with ground glass nuclei, nuclear moulding, and margination of nuclear chromatin typical of herpes simplex and varicella infection.\n", + " definition of HP:6000800 (Tzanck smear with multinucleated giant cells)\n", + " \n", + " \n", + " Partial absence of thumb\n", + " definition of HP:0009659 (Partial absence of thumb)\n", + " \n", + " \n", + " The absence of a phalangeal segment of a thumb.\n", + " definition of HP:0009659 (Partial absence of thumb)\n", + " \n", + " \n", + " #Partial absence of thumb\n", + " definition of HP:0009659 (Partial absence of thumb)\n", + " \n", + " \n", + " Monoclonal elevation of IgG heavy chain\n", + " definition of HP:0032293 (Monoclonal elevation of IgG heavy chain)\n", + " \n", + " \n", + " A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a heavy chain but not a light chain.\n", + " definition of HP:0032293 (Monoclonal elevation of IgG heavy chain)\n", + " \n", + " \n", + " Abnormal lymph-node cellular B-cell marker expression\n", + " definition of HP:0020288 (Abnormal lymph-node cellular B-cell marker expression)\n", + " \n", + " \n", + " Abnormal expression of an antigen (marker) that is normally expressed by B lymphocytes.\n", + " definition of HP:0020288 (Abnormal lymph-node cellular B-cell marker expression)\n", + " \n", + " \n", + " Abnormal scrotum morphology\n", + " definition of HP:0000045 (Abnormal scrotum morphology)\n", + " \n", + " \n", + " Any structural abnormality of the scrotum, i.e., the sac that contains the testes, epididymis, and the lower part of the spermatic cord.\n", + " definition of HP:0000045 (Abnormal scrotum morphology)\n", + " \n", + " \n", + " #Abnormality of the scrotum\n", + " definition of HP:0000045 (Abnormal scrotum morphology)\n", + " \n", + " \n", + " Patchy sclerosis of the distal phalanx of the 5th toe\n", + " definition of HP:0100469 (Patchy sclerosis of the distal phalanx of the 5th toe)\n", + " \n", + " \n", + " Patchy (irregular) increase in bone density of the distal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.\n", + " definition of HP:0100469 (Patchy sclerosis of the distal phalanx of the 5th toe)\n", + " \n", + " \n", + " #Uneven increase in bone density in the outermost little toe bone #Uneven increase in bone density in the outermost pinkie toe bone #Uneven increase in bone density in the outermost pinky toe bone\n", + " definition of HP:0100469 (Patchy sclerosis of the distal phalanx of the 5th toe)\n", + " \n", + " \n", + " Hypoplasia of the premaxilla\n", + " definition of HP:0010650 (Hypoplasia of the premaxilla)\n", + " \n", + " \n", + " An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively small in size compared to the other parts of the maxilla or other facial structures.\n", + " definition of HP:0010650 (Hypoplasia of the premaxilla)\n", + " \n", + " \n", + " #Decreased size of premaxilla #Decreased size of the primary palate bone #Hypoplasia of the intermaxillary bone #Hypoplasia of the primary palate bone #Premaxillary bone deficiency #Premaxillary underdevelopment #Primary palate bone deficiency #Small premaxilla #Small primary palate bone #Underdevelopment of premaxilla #Underdevelopment of the premaxilla #Underdevelopment of the primary palate bone\n", + " definition of HP:0010650 (Hypoplasia of the premaxilla)\n", + " \n", + " \n", + " Absent/hypoplastic paranasal sinuses\n", + " definition of HP:0005453 (Absent/hypoplastic paranasal sinuses)\n", + " \n", + " \n", + " Aplasia or hypoplasia of the paranasal sinuses.\n", + " definition of HP:0005453 (Absent/hypoplastic paranasal sinuses)\n", + " \n", + " \n", + " triggered by allergens\n", + " definition of HP:0034423 (triggered by allergens)\n", + " \n", + " \n", + " Applies to a sign or symptom that is provoked or brought about by exposure to allergens.\n", + " definition of HP:0034423 (triggered by allergens)\n", + " \n", + " \n", + " Glabellar reflex\n", + " definition of HP:0030904 (Glabellar reflex)\n", + " \n", + " \n", + " A type of primitive reflex that is elicited by repetitive tapping on the forehead. Normal subjects usually blink in response to the first several taps, but if blinking persists, the response is abnormal and considered to be a sign of frontal release. Persistent blinking is also known as Myerson's sign.\n", + " definition of HP:0030904 (Glabellar reflex)\n", + " \n", + " \n", + " Bullet-shaped distal phalanx of the 5th toe\n", + " definition of HP:0100442 (Bullet-shaped distal phalanx of the 5th toe)\n", + " \n", + " \n", + " An abnormal morphology of the distal phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.\n", + " definition of HP:0100442 (Bullet-shaped distal phalanx of the 5th toe)\n", + " \n", + " \n", + " #Bullet-shaped outermost bone of the little toe #Bullet-shaped outermost bone of the pinkie toe #Bullet-shaped outermost bone of the pinky toe\n", + " definition of HP:0100442 (Bullet-shaped distal phalanx of the 5th toe)\n", + " \n", + " \n", + " Complete duplication of thumb phalanx\n", + " definition of HP:0009943 (Complete duplication of thumb phalanx)\n", + " \n", + " \n", + " A complete duplication affecting one or more of the phalanges of the thumb. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.\n", + " definition of HP:0009943 (Complete duplication of thumb phalanx)\n", + " \n", + " \n", + " #Complete duplication of the phalanges of the thumb #Complete duplication of thumb bones #Digitalization of thumb #Digitalization of thumbs\n", + " definition of HP:0009943 (Complete duplication of thumb phalanx)\n", + " \n", + " \n", + " Bilateral vestibular schwannoma\n", + " definition of HP:0009589 (Bilateral vestibular schwannoma)\n", + " \n", + " \n", + " A bilateral vestibular schwannoma (acoustic neurinoma).\n", + " definition of HP:0009589 (Bilateral vestibular schwannoma)\n", + " \n", + " \n", + " #Bilateral acoustic neuromas\n", + " definition of HP:0009589 (Bilateral vestibular schwannoma)\n", + " \n", + " \n", + " Focal impaired awareness emotional seizure with crying\n", + " definition of HP:0032751 (Focal impaired awareness emotional seizure with crying)\n", + " \n", + " \n", + " Focal emotional seizure with crying in which awareness is partially or fully impaired at some point during the seizure.\n", + " definition of HP:0032751 (Focal impaired awareness emotional seizure with crying)\n", + " \n", + " \n", + " Thickened tympanic membrane\n", + " definition of HP:6000183 (Thickened tympanic membrane)\n", + " \n", + " \n", + " The tympanic membrane (eardrum, myringa) is a thin, semitransparent, oval membrane, approximately 1 cm in diameter, that separates the external acoustic meatus from the tympanic cavity. Thickening refers to an increase of the dimension across the membrane.\n", + " definition of HP:6000183 (Thickened tympanic membrane)\n", + " \n", + " \n", + " Recent blood transfusion\n", + " definition of HP:4000129 (Recent blood transfusion)\n", + " \n", + " \n", + " A past medical history of a recent blood transfusion.\n", + " definition of HP:4000129 (Recent blood transfusion)\n", + " \n", + " \n", + " #Blood transfusion, recent\n", + " definition of HP:4000129 (Recent blood transfusion)\n", + " \n", + " \n", + " Optic nerve hypoplasia\n", + " definition of HP:0000609 (Optic nerve hypoplasia)\n", + " \n", + " \n", + " Underdevelopment of the optic nerve.\n", + " definition of HP:0000609 (Optic nerve hypoplasia)\n", + " \n", + " \n", + " #Hypoplastic optic nerves #Underdeveloped optic nerves\n", + " definition of HP:0000609 (Optic nerve hypoplasia)\n", + " \n", + " \n", + " Elevated CSF N-carbamyl-beta-aminoisobutyric acid concentration\n", + " definition of HP:6000209 (Elevated CSF N-carbamyl-beta-aminoisobutyric acid concentration)\n", + " \n", + " \n", + " The concentration of N-carbamyl-beta-aminoisobutyric acid in the cerebrospinal fluid (CSF) is above the upper limit of normal.\n", + " definition of HP:6000209 (Elevated CSF N-carbamyl-beta-aminoisobutyric acid concentration)\n", + " \n", + " \n", + " #N-carbamyl-beta-aminoisobutyric acid high in CSF\n", + " definition of HP:6000209 (Elevated CSF N-carbamyl-beta-aminoisobutyric acid concentration)\n", + " \n", + " \n", + " Weakness due to upper motor neuron dysfunction\n", + " definition of HP:0010549 (Weakness due to upper motor neuron dysfunction)\n", + " \n", + " \n", + " Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons.\n", + " definition of HP:0010549 (Weakness due to upper motor neuron dysfunction)\n", + " \n", + " \n", + " #Paralysis due to lesions of the principle motor tracts\n", + " definition of HP:0010549 (Weakness due to upper motor neuron dysfunction)\n", + " \n", + " \n", + " Curved middle phalanx of the 4th finger\n", + " definition of HP:0009287 (Curved middle phalanx of the 4th finger)\n", + " \n", + " \n", + " Curved appearance of the middle phalanx of the 4th (ring) finger.\n", + " definition of HP:0009287 (Curved middle phalanx of the 4th finger)\n", + " \n", + " \n", + " #Curved middle ring finger bone\n", + " definition of HP:0009287 (Curved middle phalanx of the 4th finger)\n", + " \n", + " \n", + " Mediastinal lymphadenopathy\n", + " definition of HP:0100721 (Mediastinal lymphadenopathy)\n", + " \n", + " \n", + " Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes.\n", + " definition of HP:0100721 (Mediastinal lymphadenopathy)\n", + " \n", + " \n", + " #Swollen lymph nodes in center of chest #Swollen lymph nodes in centre of chest\n", + " definition of HP:0100721 (Mediastinal lymphadenopathy)\n", + " \n", + " \n", + " Sclerotic humeral metaphysis with longitudinal striations\n", + " definition of HP:0003919 (Sclerotic humeral metaphysis with longitudinal striations)\n", + " \n", + " \n", + " Abnormal circulating sex hormone concentration\n", + " definition of HP:0033799 (Abnormal circulating sex hormone concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of a sex hormone in the blood circulation\n", + " definition of HP:0033799 (Abnormal circulating sex hormone concentration)\n", + " \n", + " \n", + " #Abnormal circulating gonadal steroid concentration #Abnormal circulating gonadocorticoid concentration #Abnormal circulating sex steroid concentration\n", + " definition of HP:0033799 (Abnormal circulating sex hormone concentration)\n", + " \n", + " \n", + " Mitral valve prolapse\n", + " definition of HP:0001634 (Mitral valve prolapse)\n", + " \n", + " \n", + " One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.\n", + " definition of HP:0001634 (Mitral valve prolapse)\n", + " \n", + " \n", + " High renal tubular epithelial cell N/C ratio\n", + " definition of HP:0032605 (High renal tubular epithelial cell N/C ratio)\n", + " \n", + " \n", + " At least one tubular epithelial cell with average sized cytoplasmic area and a nuclear area 3 times greater than average sized nuclei.\n", + " definition of HP:0032605 (High renal tubular epithelial cell N/C ratio)\n", + " \n", + " \n", + " #High N/C ratio of renal tubular epithelial cells\n", + " definition of HP:0032605 (High renal tubular epithelial cell N/C ratio)\n", + " \n", + " \n", + " Abnormal dermis morphology\n", + " definition of HP:0034924 (Abnormal dermis morphology)\n", + " \n", + " \n", + " A structural anomaly of the dermis, the layer of skin that lies beneath the epidermis and above the subcutaneous layer.\n", + " definition of HP:0034924 (Abnormal dermis morphology)\n", + " \n", + " \n", + " Heinz body anemia\n", + " definition of HP:0005511 (Heinz body anemia)\n", + " \n", + " \n", + " Anemia characterized by abnormal intracellular inclusions, composed of denatured hemoglobin, found on the membrane of red blood cells.\n", + " definition of HP:0005511 (Heinz body anemia)\n", + " \n", + " \n", + " #Heinz body anaemia\n", + " definition of HP:0005511 (Heinz body anemia)\n", + " \n", + " \n", + " Amplification of sexual behavior\n", + " definition of HP:5200321 (Amplification of sexual behavior)\n", + " \n", + " \n", + " An abnormal increase of libido (sexual desire), typically accompanied by a higher frequency of sexual activity compared to from a person's previous norm.\n", + " definition of HP:5200321 (Amplification of sexual behavior)\n", + " \n", + " \n", + " #Hypersexuality #Increase in sexual behavior #Increased sexual behavior #Increased sexual behaviour\n", + " definition of HP:5200321 (Amplification of sexual behavior)\n", + " \n", + " \n", + " Limb dysmetria\n", + " definition of HP:0002406 (Limb dysmetria)\n", + " \n", + " \n", + " A type of dysmetria involving the limbs.\n", + " definition of HP:0002406 (Limb dysmetria)\n", + " \n", + " \n", + " Abnormal tympanic membrane morphology\n", + " definition of HP:0040090 (Abnormal tympanic membrane morphology)\n", + " \n", + " \n", + " Any structural abnormality of the tympanic membrane\n", + " definition of HP:0040090 (Abnormal tympanic membrane morphology)\n", + " \n", + " \n", + " #Abnormality of the eardrum #Abnormality of the tympanic membrane\n", + " definition of HP:0040090 (Abnormal tympanic membrane morphology)\n", + " \n", + " \n", + " Partial atrioventricular canal defect\n", + " definition of HP:0011577 (Partial atrioventricular canal defect)\n", + " \n", + " \n", + " A specific combination of heart defects including a primum atrial septal defect and cleft anterior mitral valve leaflet. There is not an inlet ventricular septal defect present. There are two valve annuluses and two valve orifices.\n", + " definition of HP:0011577 (Partial atrioventricular canal defect)\n", + " \n", + " \n", + " Hypertrophied muscle fibers\n", + " definition of HP:0100293 (Hypertrophied muscle fibers)\n", + " \n", + " \n", + " The presence of an increased amount of muscle fibers with an increased diameter. This feature can be ascertained by microscopic examination of a muscle biopsy sample. Together with fiber size variation and atrophied muscle fibers, and hypertrophied muscle fibers are commonly found in myopathies.\n", + " definition of HP:0100293 (Hypertrophied muscle fibers)\n", + " \n", + " \n", + " #Muscle fiber hypertrophy #Muscle fibre hypertrophy\n", + " definition of HP:0100293 (Hypertrophied muscle fibers)\n", + " \n", + " \n", + " Podocyte myelin figures\n", + " definition of HP:0033265 (Podocyte myelin figures)\n", + " \n", + " \n", + " Lamellated intracytoplasmic lipid inclusions within podocytes.\n", + " definition of HP:0033265 (Podocyte myelin figures)\n", + " \n", + " \n", + " #Podocyte myelin inclusions\n", + " definition of HP:0033265 (Podocyte myelin figures)\n", + " \n", + " \n", + " Abnormal circulating lipoprotein lipase concentration\n", + " definition of HP:0033477 (Abnormal circulating lipoprotein lipase concentration)\n", + " \n", + " \n", + " A deviation from the normal concentration of lipoprotein lipase in the blood circulation.\n", + " definition of HP:0033477 (Abnormal circulating lipoprotein lipase concentration)\n", + " \n", + " \n", + " Microcephalic sperm head\n", + " definition of HP:0032561 (Microcephalic sperm head)\n", + " \n", + " \n", + " Decreased size of the head of sperm.\n", + " definition of HP:0032561 (Microcephalic sperm head)\n", + " \n", + " \n", + " #Small-head sperm\n", + " definition of HP:0032561 (Microcephalic sperm head)\n", + " \n", + " \n", + " Cuboidal metacarpal\n", + " definition of HP:0006011 (Cuboidal metacarpal)\n", + " \n", + " \n", + " Severely shortened metacarpal with a cuboidal appearance.\n", + " definition of HP:0006011 (Cuboidal metacarpal)\n", + " \n", + " \n", + " #Short, cube shaped long bone of hand\n", + " definition of HP:0006011 (Cuboidal metacarpal)\n", + " \n", + " \n", + " Bullet-shaped distal phalanx of the 3rd toe\n", + " definition of HP:0100440 (Bullet-shaped distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " An abnormal morphology of the distal phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.\n", + " definition of HP:0100440 (Bullet-shaped distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Bullet-shaped outermost bone of the 3rd toe\n", + " definition of HP:0100440 (Bullet-shaped distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Adenomatous colonic polyposis\n", + " definition of HP:0005227 (Adenomatous colonic polyposis)\n", + " \n", + " \n", + " Presence of multiple adenomatous polyps in the colon.\n", + " definition of HP:0005227 (Adenomatous colonic polyposis)\n", + " \n", + " \n", + " #Multiple adenomatous colon polyps #Multiple colonic adenomatous polyps\n", + " definition of HP:0005227 (Adenomatous colonic polyposis)\n", + " \n", + " \n", + " Decreased CSF glycine concentration\n", + " definition of HP:0034390 (Decreased CSF glycine concentration)\n", + " \n", + " \n", + " Abnormally decreased levels of glycine in cerebrospinal fluid.\n", + " definition of HP:0034390 (Decreased CSF glycine concentration)\n", + " \n", + " \n", + " #Glycine low in CSF\n", + " definition of HP:0034390 (Decreased CSF glycine concentration)\n", + " \n", + " \n", + " Impaired renal tubular reabsorption of uric acid\n", + " definition of HP:0033774 (Impaired renal tubular reabsorption of uric acid)\n", + " \n", + " \n", + " Decreased renal tubular reabsorption of uric acid.\n", + " definition of HP:0033774 (Impaired renal tubular reabsorption of uric acid)\n", + " \n", + " \n", + " Flexner-Wintersteiner rosette\n", + " definition of HP:0031927 (Flexner-Wintersteiner rosette)\n", + " \n", + " \n", + " The tumor cells that form the Flexner-Wintersteiner rosette circumscribe a central lumen that contains small cytoplasmic extensions of the encircling cells; however, unlike the center of the Homer Wright rosette, the central lumen does not contain the fiber-rich neuropil.\n", + " definition of HP:0031927 (Flexner-Wintersteiner rosette)\n", + " \n", + " \n", + " Increased circulating dehydroepiandrosterone concentration\n", + " definition of HP:0034908 (Increased circulating dehydroepiandrosterone concentration)\n", + " \n", + " \n", + " Concentration of dehydroepiandrosterone in the blood circulation above the upper limit of normal.\n", + " definition of HP:0034908 (Increased circulating dehydroepiandrosterone concentration)\n", + " \n", + " \n", + " #Dehydroepiandrosterone high in blood\n", + " definition of HP:0034908 (Increased circulating dehydroepiandrosterone concentration)\n", + " \n", + " \n", + " Thoracic platyspondyly\n", + " definition of HP:0004592 (Thoracic platyspondyly)\n", + " \n", + " \n", + " A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the thoracic spine.\n", + " definition of HP:0004592 (Thoracic platyspondyly)\n", + " \n", + " \n", + " Decreased specific antibody response to vaccination\n", + " definition of HP:0032140 (Decreased specific antibody response to vaccination)\n", + " \n", + " \n", + " A reduced ability to synthesize postvaccination antibodies against toxoids and polysaccharides in vaccines, as measured by antibody titer determination following vaccination.\n", + " definition of HP:0032140 (Decreased specific antibody response to vaccination)\n", + " \n", + " \n", + " Abnormal phagocytosis\n", + " definition of HP:0010977 (Abnormal phagocytosis)\n", + " \n", + " \n", + " An abnormal functioning of phagocytosis. Phagocytosis is an elegant but complex process for the ingestion and elimination of pathogens, but it is also important for the elimination of apoptotic cells and hence fundamental for tissue homeostasis. Phagocytosis can be divided into four main steps: (i) recognition of the target particle, (ii) signaling to activate the internalization machinery, (iii) phagosome formation, and (iv) phagolysosome maturation.\n", + " definition of HP:0010977 (Abnormal phagocytosis)\n", + " \n", + " \n", + " Increased proportion of CD4-positive, alpha-beta memory T cells\n", + " definition of HP:0410391 (Increased proportion of CD4-positive, alpha-beta memory T cells)\n", + " \n", + " \n", + " An abnormally elevated proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.\n", + " definition of HP:0410391 (Increased proportion of CD4-positive, alpha-beta memory T cells)\n", + " \n", + " \n", + " Increased alpha-globulin\n", + " definition of HP:0005413 (Increased alpha-globulin)\n", + " \n", + " \n", + " An abnormally increased level of circulating alpha-globulin. Alpha globulins are a group of serum proteins defined by their mobility on serum electrophoresis. The alpha1-protein fraction is comprised of alpha1-antitrypsin, thyroid-binding globulin, and transcortin. Ceruloplasmin, alpha2-macroglobulin, and haptoglobin contribute to the alpha2-protein band. The alpha2 component is increased as an acute-phase reactant.\n", + " definition of HP:0005413 (Increased alpha-globulin)\n", + " \n", + " \n", + " Posttraumatic stress symptom\n", + " definition of HP:0033676 (Posttraumatic stress symptom)\n", + " \n", + " \n", + " A behavioral or psychological symptom that typically occurs following exposure to one or more traumatic events is posttraumatic stress disorder (PTSD). Symptoms of PTSD include intrusive recollections, such as re-experiencing the trauma through flashbacks, memories, or nightmares. Additionally, individuals may experience avoidant and numbing symptoms, which can include diminished emotions and avoidance of situations that serve as reminders of the traumatic event. Hyperarousal is another symptom, characterized by increased irritability, exaggerated startle reactions, and difficulties with sleeping or concentrating.\n", + " definition of HP:0033676 (Posttraumatic stress symptom)\n", + " \n", + " \n", + " Abnormal flash visual evoked potentials\n", + " definition of HP:0007928 (Abnormal flash visual evoked potentials)\n", + " \n", + " \n", + " Anomaly of the visual evoked potentials elicited by a flash stimulus, generally a flash of light subtending an angle of at least 20 degrees of the visual field and presented in a dimly lit room.\n", + " definition of HP:0007928 (Abnormal flash visual evoked potentials)\n", + " \n", + " \n", + " Polyclonal elevated circulating IgE concentration\n", + " definition of HP:0032339 (Polyclonal elevated circulating IgE concentration)\n", + " \n", + " \n", + " A heterogeneous increase in IgE mmunoglobulins characterized by a diffuse band on serum electrophoresis.\n", + " definition of HP:0032339 (Polyclonal elevated circulating IgE concentration)\n", + " \n", + " \n", + " Elevated prostate-specific antigen level\n", + " definition of HP:0025020 (Elevated prostate-specific antigen level)\n", + " \n", + " \n", + " An increased concentration of prostate specific antigen (PSA) in the circulation.\n", + " definition of HP:0025020 (Elevated prostate-specific antigen level)\n", + " \n", + " \n", + " Abnormal isohemagglutinin level\n", + " definition of HP:0410292 (Abnormal isohemagglutinin level)\n", + " \n", + " \n", + " An abnormal level of isohemagglutinin in the blood. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person).\n", + " definition of HP:0410292 (Abnormal isohemagglutinin level)\n", + " \n", + " \n", + " #Abnormal level of natural antibody to blood group agents #Abnormal natural antibody level to blood group antigens in blood (isohemagglutinin)\n", + " definition of HP:0410292 (Abnormal isohemagglutinin level)\n", + " \n", + " \n", + " 5-minute APGAR score of 0\n", + " definition of HP:0030920 (5-minute APGAR score of 0)\n", + " \n", + " \n", + " Absent penis\n", + " definition of HP:0030261 (Absent penis)\n", + " \n", + " \n", + " Lack of recognizable penile structures.\n", + " definition of HP:0030261 (Absent penis)\n", + " \n", + " \n", + " #Absent penis #Aphallia #Aplasia of the penis #Penis aplasia\n", + " definition of HP:0030261 (Absent penis)\n", + " \n", + " \n", + " Macular hyperpigmentation\n", + " definition of HP:0011509 (Macular hyperpigmentation)\n", + " \n", + " \n", + " Increased amount of pigmentation in the macula lutea.\n", + " definition of HP:0011509 (Macular hyperpigmentation)\n", + " \n", + " \n", + " Hyperphalangy of the 3rd finger\n", + " definition of HP:0031010 (Hyperphalangy of the 3rd finger)\n", + " \n", + " \n", + " An accessory phalanx of the third (middle) finger that is arranged linearly with the other phalanges. Hyperphalangy results from an accessory ossification center at the metacarpophalangeal joint.\n", + " definition of HP:0031010 (Hyperphalangy of the 3rd finger)\n", + " \n", + " \n", + " #Hyperphalangy of third finger\n", + " definition of HP:0031010 (Hyperphalangy of the 3rd finger)\n", + " \n", + " \n", + " Short diaphyses\n", + " definition of HP:0000941 (Short diaphyses)\n", + " \n", + " \n", + " #Short shaft of long bone\n", + " definition of HP:0000941 (Short diaphyses)\n", + " \n", + " \n", + " Abnormal nasal tip morphology\n", + " definition of HP:0000436 (Abnormal nasal tip morphology)\n", + " \n", + " \n", + " An abnormality of the nasal tip.\n", + " definition of HP:0000436 (Abnormal nasal tip morphology)\n", + " \n", + " \n", + " #Abnormality of the nasal tip #Abnormality of tip of nose\n", + " definition of HP:0000436 (Abnormal nasal tip morphology)\n", + " \n", + " \n", + " Osteolysis involving bones of the feet\n", + " definition of HP:0009134 (Osteolysis involving bones of the feet)\n", + " \n", + " \n", + " Bifid nasal tip\n", + " definition of HP:0000456 (Bifid nasal tip)\n", + " \n", + " \n", + " A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip.\n", + " definition of HP:0000456 (Bifid nasal tip)\n", + " \n", + " \n", + " #Bifid tip of nose #Cleft nasal tip\n", + " definition of HP:0000456 (Bifid nasal tip)\n", + " \n", + " \n", + " Lymph-node Dutcher bodies\n", + " definition of HP:0020280 (Lymph-node Dutcher bodies)\n", + " \n", + " \n", + " Dutcher bodies are collections of immunoglobulin protein that overlie or invaginate into the nucleus of plasma cells. These nuclear pseudoinclusions can occasionally be seen in reactive states and may be increased in specific neoplastic conditions.\n", + " definition of HP:0020280 (Lymph-node Dutcher bodies)\n", + " \n", + " \n", + " Narrow iliac wing\n", + " definition of HP:0002868 (Narrow iliac wing)\n", + " \n", + " \n", + " Decreased width of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally).\n", + " definition of HP:0002868 (Narrow iliac wing)\n", + " \n", + " \n", + " #Narrow iliac wings\n", + " definition of HP:0002868 (Narrow iliac wing)\n", + " \n", + " \n", + " Reduced contraction of the left ventricular apex\n", + " definition of HP:0031483 (Reduced contraction of the left ventricular apex)\n", + " \n", + " \n", + " Reduced wall motion (contraction) of the apex of the left ventricle. This manifestation can be observed on echocardiography.\n", + " definition of HP:0031483 (Reduced contraction of the left ventricular apex)\n", + " \n", + " \n", + " #Left ventricular apical hypokinesis\n", + " definition of HP:0031483 (Reduced contraction of the left ventricular apex)\n", + " \n", + " \n", + " Mild neurosensory hearing impairment\n", + " definition of HP:0008587 (Mild neurosensory hearing impairment)\n", + " \n", + " \n", + " The presence of a mild form of sensorineural hearing impairment.\n", + " definition of HP:0008587 (Mild neurosensory hearing impairment)\n", + " \n", + " \n", + " #Mild neurosensory hearing loss\n", + " definition of HP:0008587 (Mild neurosensory hearing impairment)\n", + " \n", + " \n", + " Abnormal facial artery morphology\n", + " definition of HP:3000024 (Abnormal facial artery morphology)\n", + " \n", + " \n", + " Any structural abnormality of a facial artery, one of the branches of the external carotid artery.\n", + " definition of HP:3000024 (Abnormal facial artery morphology)\n", + " \n", + " \n", + " #Abnormality of facial artery\n", + " definition of HP:3000024 (Abnormal facial artery morphology)\n", + " \n", + " \n", + " Recent steroid exposure\n", + " definition of HP:4000167 (Recent steroid exposure)\n", + " \n", + " \n", + " History of having been treated with corticosteroid medications in recent weeks.\n", + " definition of HP:4000167 (Recent steroid exposure)\n", + " \n", + " \n", + " #History of recent steroid use\n", + " definition of HP:4000167 (Recent steroid exposure)\n", + " \n", + " \n", + " Jaw hyperreflexia\n", + " definition of HP:0033683 (Jaw hyperreflexia)\n", + " \n", + " \n", + " Increased intensity of muscle tendon reflexes in jaw.\n", + " definition of HP:0033683 (Jaw hyperreflexia)\n", + " \n", + " \n", + " #Brisk jaw jerk\n", + " definition of HP:0033683 (Jaw hyperreflexia)\n", + " \n", + " \n", + " Abnormal timing of pattern reversal visual evoked potentials\n", + " definition of HP:0030460 (Abnormal timing of pattern reversal visual evoked potentials)\n", + " \n", + " \n", + " Epiblepharon of upper lid\n", + " definition of HP:0040150 (Epiblepharon of upper lid)\n", + " \n", + " \n", + " Abnormally shaped carpal bones\n", + " definition of HP:0006014 (Abnormally shaped carpal bones)\n", + " \n", + " \n", + " #Abnormally shaped wrist bones\n", + " definition of HP:0006014 (Abnormally shaped carpal bones)\n", + " \n", + " \n", + " Pineoblastoma\n", + " definition of HP:0030408 (Pineoblastoma)\n", + " \n", + " \n", + " Pineoblastoma is a rare primitive neuroectodermal tumor (PNET) arising in the pineal gland. Pineoblastomas are classified as a WHO grade IV tumor and comprise one-fourth to one-half of pineal parenchymal tumors. Pineoblastoma is a highly cellular tumor originating in the pineal gland and containing small, poorly differentiated cells.\n", + " definition of HP:0030408 (Pineoblastoma)\n", + " \n", + " \n", + " #Pinealoblastoma\n", + " definition of HP:0030408 (Pineoblastoma)\n", + " \n", + " \n", + " Sunken cheeks\n", + " definition of HP:0009938 (Sunken cheeks)\n", + " \n", + " \n", + " Lack or loss of the soft tissues between the zygomata and mandible.\n", + " definition of HP:0009938 (Sunken cheeks)\n", + " \n", + " \n", + " #Depressed cheeks #Hollow cheeks #Sunken cheeks\n", + " definition of HP:0009938 (Sunken cheeks)\n", + " \n", + " \n", + " Posterior capsular cataract\n", + " definition of HP:0100020 (Posterior capsular cataract)\n", + " \n", + " \n", + " A cataract which is found in the back outer layer of the lens. This type often develops more rapidly.\n", + " definition of HP:0100020 (Posterior capsular cataract)\n", + " \n", + " \n", + " Abnormal circulating pyruvate family amino acid concentration\n", + " definition of HP:0010915 (Abnormal circulating pyruvate family amino acid concentration)\n", + " \n", + " \n", + " An abnormality of a pyruvate family amino acid metabolic process.\n", + " definition of HP:0010915 (Abnormal circulating pyruvate family amino acid concentration)\n", + " \n", + " \n", + " #Abnormality of pyruvate family amino acid metabolism\n", + " definition of HP:0010915 (Abnormal circulating pyruvate family amino acid concentration)\n", + " \n", + " \n", + " Abnormal intrarenal artery morphology\n", + " definition of HP:0033836 (Abnormal intrarenal artery morphology)\n", + " \n", + " \n", + " An anomalous structure of an artery located in the kidney.\n", + " definition of HP:0033836 (Abnormal intrarenal artery morphology)\n", + " \n", + " \n", + " #Abnormal kidney arterial blood vessel morphology\n", + " definition of HP:0033836 (Abnormal intrarenal artery morphology)\n", + " \n", + " \n", + " Total absence of the pericardium\n", + " definition of HP:0011629 (Total absence of the pericardium)\n", + " \n", + " \n", + " No pericardium around the heart, occurring as a congenital defect, not the result of a surgical pericardectomy.\n", + " definition of HP:0011629 (Total absence of the pericardium)\n", + " \n", + " \n", + " #Absent pericardium #Congenital absence of the pericardium\n", + " definition of HP:0011629 (Total absence of the pericardium)\n", + " \n", + " \n", + " Anti-GFAP antibody\n", + " definition of HP:5000013 (Anti-GFAP antibody)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glial fibrillary acidic protein (GFAP).\n", + " definition of HP:5000013 (Anti-GFAP antibody)\n", + " \n", + " \n", + " #Anti-glial fibrillary acidic protein antibody\n", + " definition of HP:5000013 (Anti-GFAP antibody)\n", + " \n", + " \n", + " Anterior chamber flare grade 1+\n", + " definition of HP:0031618 (Anterior chamber flare grade 1+)\n", + " \n", + " \n", + " Faint anterior chamber flare.\n", + " definition of HP:0031618 (Anterior chamber flare grade 1+)\n", + " \n", + " \n", + " Inappropriately low concentration of beta-hydroxybutyrate\n", + " definition of HP:6000236 (Inappropriately low concentration of beta-hydroxybutyrate)\n", + " \n", + " \n", + " Lower than appropriate concentration of beta-hydroxybutyrate in states such as hypoglycemia in which the normal response would be to elevate acetoacetate.\n", + " definition of HP:6000236 (Inappropriately low concentration of beta-hydroxybutyrate)\n", + " \n", + " \n", + " Abnormal vestibular saccule morphology\n", + " definition of HP:0030999 (Abnormal vestibular saccule morphology)\n", + " \n", + " \n", + " Any structural anomaly of the saccule of the vestibule. The saccule is the otolith organ that senses motions in the sagittal plane (i.e., up-down movement).\n", + " definition of HP:0030999 (Abnormal vestibular saccule morphology)\n", + " \n", + " \n", + " Cardiac amyloidosis\n", + " definition of HP:0030843 (Cardiac amyloidosis)\n", + " \n", + " \n", + " Extracellular deposition in cardiac tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding.\n", + " definition of HP:0030843 (Cardiac amyloidosis)\n", + " \n", + " \n", + " #Amyloid cardiomyopathy\n", + " definition of HP:0030843 (Cardiac amyloidosis)\n", + " \n", + " \n", + " Decreased urinary urate\n", + " definition of HP:0011935 (Decreased urinary urate)\n", + " \n", + " \n", + " Decreased concentration of urate in the urine.\n", + " definition of HP:0011935 (Decreased urinary urate)\n", + " \n", + " \n", + " Arcuate artery endoarterial leukocyte hypercellularity\n", + " definition of HP:0033927 (Arcuate artery endoarterial leukocyte hypercellularity)\n", + " \n", + " \n", + " Arcuate artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes).\n", + " definition of HP:0033927 (Arcuate artery endoarterial leukocyte hypercellularity)\n", + " \n", + " \n", + " #Endoarterial hypercellularity within arcuate artery consisting of leukocytes\n", + " definition of HP:0033927 (Arcuate artery endoarterial leukocyte hypercellularity)\n", + " \n", + " \n", + " Inguinal freckling\n", + " definition of HP:0030052 (Inguinal freckling)\n", + " \n", + " \n", + " The presence in the inguinal region (groin) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.\n", + " definition of HP:0030052 (Inguinal freckling)\n", + " \n", + " \n", + " #Freckles in groin region\n", + " definition of HP:0030052 (Inguinal freckling)\n", + " \n", + " \n", + " Abnormal mitral valve annulus morphology\n", + " definition of HP:0031478 (Abnormal mitral valve annulus morphology)\n", + " \n", + " \n", + " Any structural anomaly of the annulus of the mitral valve. The annulus is a ring composed of fibrous and myocardial tissue and is the structure onto which the cusps of the valve attach.\n", + " definition of HP:0031478 (Abnormal mitral valve annulus morphology)\n", + " \n", + " \n", + " Aplasia of the premaxilla\n", + " definition of HP:0010757 (Aplasia of the premaxilla)\n", + " \n", + " \n", + " Absence of the premaxilla, which is the embryonic structure that forms the anterior part of the maxilla.\n", + " definition of HP:0010757 (Aplasia of the premaxilla)\n", + " \n", + " \n", + " #Absence of the intermaxillary bone #Absence of the premaxilla #Absence of the primary palate bone #Aplasia of the intermaxillary bone #Aplasia of the primary palate bone #Failure of development of premaxilla #Failure of development of the primary palate bone #Missing premaxilla #Missing primary palate bone\n", + " definition of HP:0010757 (Aplasia of the premaxilla)\n", + " \n", + " \n", + " Reduced circulating interleukin 21 concentration\n", + " definition of HP:0034165 (Reduced circulating interleukin 21 concentration)\n", + " \n", + " \n", + " An abnormally decreased concentration of interleukin 21 in the blood circulation.\n", + " definition of HP:0034165 (Reduced circulating interleukin 21 concentration)\n", + " \n", + " \n", + " Decreased corneal sensation\n", + " definition of HP:0012155 (Decreased corneal sensation)\n", + " \n", + " \n", + " Reduced ability of the cornea to respond to stimulation.\n", + " definition of HP:0012155 (Decreased corneal sensation)\n", + " \n", + " \n", + " #Corneal hypaesthesia #Corneal hypesthesia #Reduced corneal sensation\n", + " definition of HP:0012155 (Decreased corneal sensation)\n", + " \n", + " \n", + " Retarded ejaculation\n", + " definition of HP:0012878 (Retarded ejaculation)\n", + " \n", + " \n", + " Difficulty of a male in achieving orgasm.\n", + " definition of HP:0012878 (Retarded ejaculation)\n", + " \n", + " \n", + " #Delayed ejaculation\n", + " definition of HP:0012878 (Retarded ejaculation)\n", + " \n", + " \n", + " Decreased CD25 upregulation upon TCR activation\n", + " definition of HP:0031270 (Decreased CD25 upregulation upon TCR activation)\n", + " \n", + " \n", + " Decreased or impaired upregulation of CD25 on T cells after activation via the T cell receptor (TCR).\n", + " definition of HP:0031270 (Decreased CD25 upregulation upon TCR activation)\n", + " \n", + " \n", + " #Poor CD25 upregulation upon TCR activation #Reduced IL2RA upregulation upon TCR activation\n", + " definition of HP:0031270 (Decreased CD25 upregulation upon TCR activation)\n", + " \n", + " \n", + " Abnormal CSF urate concentration\n", + " definition of HP:0500117 (Abnormal CSF urate concentration)\n", + " \n", + " \n", + " Abnormal concentration of urate in the cerebrospinal fluid (CSF).\n", + " definition of HP:0500117 (Abnormal CSF urate concentration)\n", + " \n", + " \n", + " Prolonged whole-blood clotting time\n", + " definition of HP:0005542 (Prolonged whole-blood clotting time)\n", + " \n", + " \n", + " An abnormal prolongation (delay) in the time required by whole blood to produce a visible clot.\n", + " definition of HP:0005542 (Prolonged whole-blood clotting time)\n", + " \n", + " \n", + " #Prolonged clotting time\n", + " definition of HP:0005542 (Prolonged whole-blood clotting time)\n", + " \n", + " \n", + " Glomerulomegaly\n", + " definition of HP:0030162 (Glomerulomegaly)\n", + " \n", + " \n", + " Abnormally large size of glomeruli.\n", + " definition of HP:0030162 (Glomerulomegaly)\n", + " \n", + " \n", + " #Glomeruli enlarged\n", + " definition of HP:0030162 (Glomerulomegaly)\n", + " \n", + " \n", + " Subcortical band heterotopia\n", + " definition of HP:0032409 (Subcortical band heterotopia)\n", + " \n", + " \n", + " A form of subcortical heterotopia with mislocalized gray matter within the white matter.It is defined as longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter. It is part of the lissencephaly spectrum.\n", + " definition of HP:0032409 (Subcortical band heterotopia)\n", + " \n", + " \n", + " Generalized myoclonic seizure\n", + " definition of HP:0002123 (Generalized myoclonic seizure)\n", + " \n", + " \n", + " A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.\n", + " definition of HP:0002123 (Generalized myoclonic seizure)\n", + " \n", + " \n", + " #Generalised epileptic myoclonus #Generalised myoclonic seizure #Generalised myoclonic seizures #Generalized epileptic myoclonus #Generalized myoclonic seizures #Myoclonus seizures\n", + " definition of HP:0002123 (Generalized myoclonic seizure)\n", + " \n", + " \n", + " Anti-intrinsic factor antibody positivity\n", + " definition of HP:6000344 (Anti-intrinsic factor antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against intrinsic factor.\n", + " definition of HP:6000344 (Anti-intrinsic factor antibody positivity)\n", + " \n", + " \n", + " Dicarboxylic acidemia\n", + " definition of HP:0040145 (Dicarboxylic acidemia)\n", + " \n", + " \n", + " Impaired renal concentrating ability\n", + " definition of HP:0004727 (Impaired renal concentrating ability)\n", + " \n", + " \n", + " A defect in the ability to concentrate the urine.\n", + " definition of HP:0004727 (Impaired renal concentrating ability)\n", + " \n", + " \n", + " #Urine concentrating defect #Urine concentration defect\n", + " definition of HP:0004727 (Impaired renal concentrating ability)\n", + " \n", + " \n", + " Abnormality of the epiphysis of the proximal phalanx of the 4th finger\n", + " definition of HP:0009248 (Abnormality of the epiphysis of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " #Abnormality of the end part of the innermost bone of the ring finger\n", + " definition of HP:0009248 (Abnormality of the epiphysis of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " Colitis\n", + " definition of HP:0002583 (Colitis)\n", + " \n", + " \n", + " Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases.\n", + " definition of HP:0002583 (Colitis)\n", + " \n", + " \n", + " Renal interstitial hemosiderin\n", + " definition of HP:0032591 (Renal interstitial hemosiderin)\n", + " \n", + " \n", + " Deposition of hemosiderin (a golden-brown, granular pigment derived from ferritin) in interstitial cells of the kidney.\n", + " definition of HP:0032591 (Renal interstitial hemosiderin)\n", + " \n", + " \n", + " Anti-platelet derived growth factor receptor\n", + " definition of HP:0034091 (Anti-platelet derived growth factor receptor)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against platelet derived growth factor receptor.\n", + " definition of HP:0034091 (Anti-platelet derived growth factor receptor)\n", + " \n", + " \n", + " #Anti-PDGFR antibody positivity\n", + " definition of HP:0034091 (Anti-platelet derived growth factor receptor)\n", + " \n", + " \n", + " Submucous cleft soft palate\n", + " definition of HP:0011819 (Submucous cleft soft palate)\n", + " \n", + " \n", + " A cleft of the muscular (soft) portion of the palate that is covered by mucous membrane. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue.\n", + " definition of HP:0011819 (Submucous cleft soft palate)\n", + " \n", + " \n", + " #Partial thickness cleft soft palate #Submucous cleft velum\n", + " definition of HP:0011819 (Submucous cleft soft palate)\n", + " \n", + " \n", + " Constant exotropia\n", + " definition of HP:0031713 (Constant exotropia)\n", + " \n", + " \n", + " A form of divergent strabismus (exotropia) in which the eye turns outward at all distances and at all times.\n", + " definition of HP:0031713 (Constant exotropia)\n", + " \n", + " \n", + " Abnormal cardiac atrial physiology\n", + " definition of HP:0025443 (Abnormal cardiac atrial physiology)\n", + " \n", + " \n", + " An abnormality of the function of the cardiac atria.\n", + " definition of HP:0025443 (Abnormal cardiac atrial physiology)\n", + " \n", + " \n", + " Bilateral multifocal epileptiform discharges\n", + " definition of HP:0011189 (Bilateral multifocal epileptiform discharges)\n", + " \n", + " \n", + " Epileptiform discharges being identified at multiple locations in both hemispheres.\n", + " definition of HP:0011189 (Bilateral multifocal epileptiform discharges)\n", + " \n", + " \n", + " Cold-induced sweating\n", + " definition of HP:0025278 (Cold-induced sweating)\n", + " \n", + " \n", + " Sweating provoked by cold temperature rather than by heat.\n", + " definition of HP:0025278 (Cold-induced sweating)\n", + " \n", + " \n", + " Hot flashes\n", + " definition of HP:0031217 (Hot flashes)\n", + " \n", + " \n", + " Sudden feelings of warmth that are generally most pronounced over the face, neck and chest.\n", + " definition of HP:0031217 (Hot flashes)\n", + " \n", + " \n", + " Urine xenobiotic\n", + " definition of HP:0031840 (Urine xenobiotic)\n", + " \n", + " \n", + " The presence of a xenobiotic in urine.\n", + " definition of HP:0031840 (Urine xenobiotic)\n", + " \n", + " \n", + " Submacular hemorrhage\n", + " definition of HP:0025582 (Submacular hemorrhage)\n", + " \n", + " \n", + " Bleeding between the neurosensory retina and the retinal pigment epithelium (RPE) arising from the choroidal or retinal circulation.\n", + " definition of HP:0025582 (Submacular hemorrhage)\n", + " \n", + " \n", + " #Sub-macular haemorrhage #Sub-macular hemorrhage #Submacular haemorrhage\n", + " definition of HP:0025582 (Submacular hemorrhage)\n", + " \n", + " \n", + " Forward slanting upper incisors\n", + " definition of HP:0025009 (Forward slanting upper incisors)\n", + " \n", + " \n", + " The upper incisors deviate from the normal angle of being roughly parallel to the surface of the face and instead slant outwards.\n", + " definition of HP:0025009 (Forward slanting upper incisors)\n", + " \n", + " \n", + " #Forward directed upper incisors #Proclination of the upper incisors #Protruding upper incisors\n", + " definition of HP:0025009 (Forward slanting upper incisors)\n", + " \n", + " \n", + " Bladder rupture\n", + " definition of HP:6000662 (Bladder rupture)\n", + " \n", + " \n", + " A perforation in the wall of the urinary bladder. Bladder rupture, a relatively rare condition, is most commonly due to abdominal or pelvic trauma but may be spontaneous or iatrogenic in association with surgical or endoscopic procedures. In most cases, patients with bladder rupture have gross hematuria. Other symptoms of bladder rupture include pelvic pain, lower abdominal pain, and difficulty voiding.\n", + " definition of HP:6000662 (Bladder rupture)\n", + " \n", + " \n", + " Abnormality of the musculature\n", + " definition of HP:0003011 (Abnormality of the musculature)\n", + " \n", + " \n", + " Abnormality originating in one or more muscles, i.e., of the set of muscles of body.\n", + " definition of HP:0003011 (Abnormality of the musculature)\n", + " \n", + " \n", + " #Muscular abnormality\n", + " definition of HP:0003011 (Abnormality of the musculature)\n", + " \n", + " \n", + " Concave nail\n", + " definition of HP:0001598 (Concave nail)\n", + " \n", + " \n", + " The natural longitudinal (posterodistal) convex arch is not present or is inverted.\n", + " definition of HP:0001598 (Concave nail)\n", + " \n", + " \n", + " #Koilonychia #Spoon-shaped nails\n", + " definition of HP:0001598 (Concave nail)\n", + " \n", + " \n", + " Myopathy\n", + " definition of HP:0003198 (Myopathy)\n", + " \n", + " \n", + " A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.\n", + " definition of HP:0003198 (Myopathy)\n", + " \n", + " \n", + " #Muscle tissue disease #Myopathic changes\n", + " definition of HP:0003198 (Myopathy)\n", + " \n", + " \n", + " Focal aware emotional seizure with anger\n", + " definition of HP:0032735 (Focal aware emotional seizure with anger)\n", + " \n", + " \n", + " Focal emotional seizure with anger in which awareness is retained throughout.\n", + " definition of HP:0032735 (Focal aware emotional seizure with anger)\n", + " \n", + " \n", + " Positive bloodstream influenza nucleic test\n", + " definition of HP:6000737 (Positive bloodstream influenza nucleic test)\n", + " \n", + " \n", + " Detection of nucleic acid of an influenza virus in the blood circulation by a method such as polymerase chain reaction (PCR).\n", + " definition of HP:6000737 (Positive bloodstream influenza nucleic test)\n", + " \n", + " \n", + " Rapid neurologic deterioration\n", + " definition of HP:0007307 (Rapid neurologic deterioration)\n", + " \n", + " \n", + " Decreased helper T cell proportion\n", + " definition of HP:0008165 (Decreased helper T cell proportion)\n", + " \n", + " \n", + " Reduced proportion of helper T cells relative to the total number of T cells.\n", + " definition of HP:0008165 (Decreased helper T cell proportion)\n", + " \n", + " \n", + " #Decreased proportion circulating T-helper cells #Reduced helper T cell proportion\n", + " definition of HP:0008165 (Decreased helper T cell proportion)\n", + " \n", + " \n", + " Widow's peak\n", + " definition of HP:0000349 (Widow's peak)\n", + " \n", + " \n", + " Frontal hairline with bilateral arcs to a low point in the midline of the forehead.\n", + " definition of HP:0000349 (Widow's peak)\n", + " \n", + " \n", + " #Hairline peak #Hairline point #Pointed frontal hairline #Pointed hairline at front of head #V-shaped frontal hairline #Widow's peak\n", + " definition of HP:0000349 (Widow's peak)\n", + " \n", + " \n", + " Enlarged epiphyses of the hallux\n", + " definition of HP:0010116 (Enlarged epiphyses of the hallux)\n", + " \n", + " \n", + " #Enlarged end part of the big toe bone\n", + " definition of HP:0010116 (Enlarged epiphyses of the hallux)\n", + " \n", + " \n", + " P pulmonale\n", + " definition of HP:0031601 (P pulmonale)\n", + " \n", + " \n", + " The presence of tall, peaked P waves in EKG lead II.\n", + " definition of HP:0031601 (P pulmonale)\n", + " \n", + " \n", + " Mixed respiratory and metabolic acidosis\n", + " definition of HP:0005967 (Mixed respiratory and metabolic acidosis)\n", + " \n", + " \n", + " Patchy sclerosis of 4th finger phalanx\n", + " definition of HP:0009406 (Patchy sclerosis of 4th finger phalanx)\n", + " \n", + " \n", + " Uneven increase in bone density of one or more of the phalanges of the fourth (ring) finger.\n", + " definition of HP:0009406 (Patchy sclerosis of 4th finger phalanx)\n", + " \n", + " \n", + " #Patchy sclerosis of the phalanges of the 4th finger #Uneven increase in bone density in ring finger bone\n", + " definition of HP:0009406 (Patchy sclerosis of 4th finger phalanx)\n", + " \n", + " \n", + " Tibial bowing\n", + " definition of HP:0002982 (Tibial bowing)\n", + " \n", + " \n", + " A bending or abnormal curvature of the tibia.\n", + " definition of HP:0002982 (Tibial bowing)\n", + " \n", + " \n", + " #Bowed shankbone #Bowed shinbone #Bowed tibia #Bowing of the tibia\n", + " definition of HP:0002982 (Tibial bowing)\n", + " \n", + " \n", + " Calf muscle pseudohypertrophy\n", + " definition of HP:0003707 (Calf muscle pseudohypertrophy)\n", + " \n", + " \n", + " Enlargement of the muscles of the calf due to their replacement by connective tissue or fat.\n", + " definition of HP:0003707 (Calf muscle pseudohypertrophy)\n", + " \n", + " \n", + " #Pseudohypertrophy of the calves\n", + " definition of HP:0003707 (Calf muscle pseudohypertrophy)\n", + " \n", + " \n", + " Hyponatremia\n", + " definition of HP:0002902 (Hyponatremia)\n", + " \n", + " \n", + " An abnormally decreased sodium concentration in the blood.\n", + " definition of HP:0002902 (Hyponatremia)\n", + " \n", + " \n", + " #Low blood sodium levels\n", + " definition of HP:0002902 (Hyponatremia)\n", + " \n", + " \n", + " Decreased body mass index\n", + " definition of HP:0045082 (Decreased body mass index)\n", + " \n", + " \n", + " Abnormally decreased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of underweight compared to averages.\n", + " definition of HP:0045082 (Decreased body mass index)\n", + " \n", + " \n", + " #Decreased BMI\n", + " definition of HP:0045082 (Decreased body mass index)\n", + " \n", + " \n", + " Difficulty understanding humor\n", + " definition of HP:5200119 (Difficulty understanding humor)\n", + " \n", + " \n", + " Radial club hand\n", + " definition of HP:0004059 (Radial club hand)\n", + " \n", + " \n", + " Wrist is bent inward toward the thumb because of a congenital defect associated with shortening or absence of the radius.\n", + " definition of HP:0004059 (Radial club hand)\n", + " \n", + " \n", + " Multiple cutaneous malignancies\n", + " definition of HP:0007606 (Multiple cutaneous malignancies)\n", + " \n", + " \n", + " Irregular epiphyses of the middle phalanges of the hand\n", + " definition of HP:0010262 (Irregular epiphyses of the middle phalanges of the hand)\n", + " \n", + " \n", + " #Irregular end part of middle hand bones\n", + " definition of HP:0010262 (Irregular epiphyses of the middle phalanges of the hand)\n", + " \n", + " \n", + " Absent inner dynein arms\n", + " definition of HP:0012257 (Absent inner dynein arms)\n", + " \n", + " \n", + " Absence of the inner dynein arms of respiratory motile cilia, which normally are situated within the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.\n", + " definition of HP:0012257 (Absent inner dynein arms)\n", + " \n", + " \n", + " Primary vesicoureteral reflux\n", + " definition of HP:0033738 (Primary vesicoureteral reflux)\n", + " \n", + " \n", + " Vesicoureteral reflux due to abnormalities in ureterovesical junction, e.g. ectopic insertion of the ureter or short intravesical tunnel at the ureterovesical junction.\n", + " definition of HP:0033738 (Primary vesicoureteral reflux)\n", + " \n", + " \n", + " Preductal coarctation of the aorta\n", + " definition of HP:0005151 (Preductal coarctation of the aorta)\n", + " \n", + " \n", + " Narrowing or constriction of the aorta localized proximal to the ductus arteriosus, i.e., to the preductal region of aortic arch.\n", + " definition of HP:0005151 (Preductal coarctation of the aorta)\n", + " \n", + " \n", + " #Proximal aortic coarctation\n", + " definition of HP:0005151 (Preductal coarctation of the aorta)\n", + " \n", + " \n", + " Increased circulating lactate dehydrogenase concentration\n", + " definition of HP:0025435 (Increased circulating lactate dehydrogenase concentration)\n", + " \n", + " \n", + " An elevated level of the enzyme lactate dehydrogenase in the blood circulation.\n", + " definition of HP:0025435 (Increased circulating lactate dehydrogenase concentration)\n", + " \n", + " \n", + " #Increased circulating LDH concentration #Increased lactate dehydrogenase level\n", + " definition of HP:0025435 (Increased circulating lactate dehydrogenase concentration)\n", + " \n", + " \n", + " Aplasia/hypoplasia involving forearm bones\n", + " definition of HP:0006503 (Aplasia/hypoplasia involving forearm bones)\n", + " \n", + " \n", + " Absence (due to failure to form) or underdevelopment of one or more forearm bones.\n", + " definition of HP:0006503 (Aplasia/hypoplasia involving forearm bones)\n", + " \n", + " \n", + " #Absent/small forearm bones #Absent/underdeveloped forearm bones\n", + " definition of HP:0006503 (Aplasia/hypoplasia involving forearm bones)\n", + " \n", + " \n", + " Decreased circulating calcifediol concentration\n", + " definition of HP:0012053 (Decreased circulating calcifediol concentration)\n", + " \n", + " \n", + " A reduced concentration of calcifediol in the blood. Calcifediol is also known as calcidiol, 25-hydroxycholecalciferol and 25-Hydroxyvitamin D3.\n", + " definition of HP:0012053 (Decreased circulating calcifediol concentration)\n", + " \n", + " \n", + " #Decreased 25-hydroxyvitamin D3 #Low serum 25-hydroxycholecalciferol #Low serum calcidiol #Low serum calcifediol\n", + " definition of HP:0012053 (Decreased circulating calcifediol concentration)\n", + " \n", + " \n", + " Sclerosis of the distal phalanx of the 3rd toe\n", + " definition of HP:0100940 (Sclerosis of the distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " An elevation in bone density in the distal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.\n", + " definition of HP:0100940 (Sclerosis of the distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Increased bone density in the outermost bone of the 3rd toe\n", + " definition of HP:0100940 (Sclerosis of the distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Abnormal peripheral nervous system physiology\n", + " definition of HP:0032120 (Abnormal peripheral nervous system physiology)\n", + " \n", + " \n", + " Any functional abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord.\n", + " definition of HP:0032120 (Abnormal peripheral nervous system physiology)\n", + " \n", + " \n", + " Wide ulnar metaphysis\n", + " definition of HP:0004047 (Wide ulnar metaphysis)\n", + " \n", + " \n", + " Increase in width (breadth) of the ulnar metaphysis.\n", + " definition of HP:0004047 (Wide ulnar metaphysis)\n", + " \n", + " \n", + " #Broad ulnar metaphysis\n", + " definition of HP:0004047 (Wide ulnar metaphysis)\n", + " \n", + " \n", + " T2 hypointense brainstem\n", + " definition of HP:0012750 (T2 hypointense brainstem)\n", + " \n", + " \n", + " A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a diffuse hypointensity affecting the entire brainstem.\n", + " definition of HP:0012750 (T2 hypointense brainstem)\n", + " \n", + " \n", + " Abnormality of the immune system\n", + " definition of HP:0002715 (Abnormality of the immune system)\n", + " \n", + " \n", + " An abnormality of the immune system.\n", + " definition of HP:0002715 (Abnormality of the immune system)\n", + " \n", + " \n", + " #Abnormality of the immune system #Immunological abnormality\n", + " definition of HP:0002715 (Abnormality of the immune system)\n", + " \n", + " \n", + " Colovesical fistula\n", + " definition of HP:0034255 (Colovesical fistula)\n", + " \n", + " \n", + " An aberrant, pathological communication between the colon and the bladder.\n", + " definition of HP:0034255 (Colovesical fistula)\n", + " \n", + " \n", + " #Colovesicular fistula #Vesicocolic fistula\n", + " definition of HP:0034255 (Colovesical fistula)\n", + " \n", + " \n", + " Triangular epiphyses of the proximal phalanges of the hand\n", + " definition of HP:0010278 (Triangular epiphyses of the proximal phalanges of the hand)\n", + " \n", + " \n", + " #Triangular end part of the innermost hand bones\n", + " definition of HP:0010278 (Triangular epiphyses of the proximal phalanges of the hand)\n", + " \n", + " \n", + " Short middle phalanx of the 4th toe\n", + " definition of HP:0100393 (Short middle phalanx of the 4th toe)\n", + " \n", + " \n", + " Developmental hypoplasia of the middle phalanx of fourth toe.\n", + " definition of HP:0100393 (Short middle phalanx of the 4th toe)\n", + " \n", + " \n", + " #Hypoplastic/small middle phalanx of the 4th toe #Short middle bone of 4th toe #Short middle phalanx of the fourth toe\n", + " definition of HP:0100393 (Short middle phalanx of the 4th toe)\n", + " \n", + " \n", + " Circulating immune complexes\n", + " definition of HP:0012224 (Circulating immune complexes)\n", + " \n", + " \n", + " Persistence of immune complexes in the blood circulation.\n", + " definition of HP:0012224 (Circulating immune complexes)\n", + " \n", + " \n", + " Perivascular pseudorosette\n", + " definition of HP:0031929 (Perivascular pseudorosette)\n", + " \n", + " \n", + " A type of rosette in which a spoke-wheel arrangement of cells with tapered cellular processes radiates around a wall of a centrally placed vessel.\n", + " definition of HP:0031929 (Perivascular pseudorosette)\n", + " \n", + " \n", + " Nail pterygium\n", + " definition of HP:0002165 (Nail pterygium)\n", + " \n", + " \n", + " Inward advance of skin over the nail plate.\n", + " definition of HP:0002165 (Nail pterygium)\n", + " \n", + " \n", + " #Nail pterygium #Pterygium of nails\n", + " definition of HP:0002165 (Nail pterygium)\n", + " \n", + " \n", + " Galactose intolerance\n", + " definition of HP:0004919 (Galactose intolerance)\n", + " \n", + " \n", + " Hypergonadotropic hypogonadism\n", + " definition of HP:0000815 (Hypergonadotropic hypogonadism)\n", + " \n", + " \n", + " Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay.\n", + " definition of HP:0000815 (Hypergonadotropic hypogonadism)\n", + " \n", + " \n", + " #Hypergonadotrophic hypogonadism #Primary hypogonadism\n", + " definition of HP:0000815 (Hypergonadotropic hypogonadism)\n", + " \n", + " \n", + " Curvilinear subcortical heterotopia\n", + " definition of HP:0032395 (Curvilinear subcortical heterotopia)\n", + " \n", + " \n", + " Large subcortical heterotopia of variable morphology with streaks and swirls. These always connect to the overlying cortex in at least one, but usually in multiple, locations. Spaces with the signal intensity of CSF are usually seen within the heterotopia.\n", + " definition of HP:0032395 (Curvilinear subcortical heterotopia)\n", + " \n", + " \n", + " #Giant heterotopia\n", + " definition of HP:0032395 (Curvilinear subcortical heterotopia)\n", + " \n", + " \n", + " Infantile onset\n", + " definition of HP:0003593 (Infantile onset)\n", + " \n", + " \n", + " Onset of signs or symptoms of disease between 28 days to one year of life.\n", + " definition of HP:0003593 (Infantile onset)\n", + " \n", + " \n", + " #Infantile onset #Onset in first year of life #Onset in infancy\n", + " definition of HP:0003593 (Infantile onset)\n", + " \n", + " \n", + " Thickened fibular cortex\n", + " definition of HP:6000705 (Thickened fibular cortex)\n", + " \n", + " \n", + " Abnormal increase in the thickness (distance between the inner and outer boundaries) of the outer layer (cortex) of the fibula.\n", + " definition of HP:6000705 (Thickened fibular cortex)\n", + " \n", + " \n", + " #Broad cortex of fibula #Cortical thickening of the fibula #Thickened cortex of the fibula #Thickened cortices of fibula\n", + " definition of HP:6000705 (Thickened fibular cortex)\n", + " \n", + " \n", + " Abnormality of the middle phalanx of the 5th finger\n", + " definition of HP:0004219 (Abnormality of the middle phalanx of the 5th finger)\n", + " \n", + " \n", + " #Abnormality of the middle bone of little finger #Abnormality of the middle bone of pinkie finger #Abnormality of the middle bone of pinky finger\n", + " definition of HP:0004219 (Abnormality of the middle phalanx of the 5th finger)\n", + " \n", + " \n", + " Abnormal QT interval\n", + " definition of HP:0031547 (Abnormal QT interval)\n", + " \n", + " \n", + " Any anomaly of the time interval between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).\n", + " definition of HP:0031547 (Abnormal QT interval)\n", + " \n", + " \n", + " Risus sardonicus\n", + " definition of HP:0040212 (Risus sardonicus)\n", + " \n", + " \n", + " Fixed sarcastic grimace and anxious expression. Caused by spasms of the masseter and other facial muscles.\n", + " definition of HP:0040212 (Risus sardonicus)\n", + " \n", + " \n", + " #Rictus grin\n", + " definition of HP:0040212 (Risus sardonicus)\n", + " \n", + " \n", + " Tryptophanuria\n", + " definition of HP:0003361 (Tryptophanuria)\n", + " \n", + " \n", + " An increased concentration of tryptophan in the urine.\n", + " definition of HP:0003361 (Tryptophanuria)\n", + " \n", + " \n", + " #High urine tryptophan levels\n", + " definition of HP:0003361 (Tryptophanuria)\n", + " \n", + " \n", + " Renal interstitial edema\n", + " definition of HP:0032637 (Renal interstitial edema)\n", + " \n", + " \n", + " Edema is characterized but the acute swelling of the stroma, with expansion of the interstitial space without the a concurrent increase in interstitial cells or extracellular matrix. Histologically this change is appreciated as interstitial areas of lower optical density.\n", + " definition of HP:0032637 (Renal interstitial edema)\n", + " \n", + " \n", + " #Renal interstitial oedema\n", + " definition of HP:0032637 (Renal interstitial edema)\n", + " \n", + " \n", + " High serum calcitriol\n", + " definition of HP:0031415 (High serum calcitriol)\n", + " \n", + " \n", + " An increased concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3.\n", + " definition of HP:0031415 (High serum calcitriol)\n", + " \n", + " \n", + " #High serum 1,25-dihydroxycholecalciferol #High serum 1,25-dihydroxyvitamin D3 #Increased serum 1,25-dihydroxyvitamin D3 #Increased serum calcitriol\n", + " definition of HP:0031415 (High serum calcitriol)\n", + " \n", + " \n", + " Unilateral lump kidney\n", + " definition of HP:0034232 (Unilateral lump kidney)\n", + " \n", + " \n", + " A type of cross fused renal ectopia where fusion occurs over a wide margin, both renal pelves anteriorly directed and placed more inferiorly.\n", + " definition of HP:0034232 (Unilateral lump kidney)\n", + " \n", + " \n", + " #Type C cross fused renal ectopia\n", + " definition of HP:0034232 (Unilateral lump kidney)\n", + " \n", + " \n", + " Fusiform aortic arch aneurysm\n", + " definition of HP:0031646 (Fusiform aortic arch aneurysm)\n", + " \n", + " \n", + " A concentric abnormal localized widening (dilatation) of the aortic arch that involves the full circumference of the vessel wall.\n", + " definition of HP:0031646 (Fusiform aortic arch aneurysm)\n", + " \n", + " \n", + " Proximal radio-ulnar synostosis\n", + " definition of HP:0005037 (Proximal radio-ulnar synostosis)\n", + " \n", + " \n", + " An abnormal osseous union (fusion) between the proximal portions of the radius and the ulna.\n", + " definition of HP:0005037 (Proximal radio-ulnar synostosis)\n", + " \n", + " \n", + " Overriding aorta\n", + " definition of HP:0002623 (Overriding aorta)\n", + " \n", + " \n", + " An overriding aorta is a congenital heart defect where the aorta is positioned directly over a ventricular septal defect, instead of over the left ventricle. The result is that the aorta receives some blood from the right ventricle, which reduces the amount of oxygen in the blood. It is one of the four conditions of the Tetralogy of Fallot. The aortic root can be displaced toward the front (anteriorly) or directly above the septal defect, but it is always abnormally located to the right of the root of the pulmonary artery. The degree of override is quite variable, with 5-95% of the valve being connected to the right ventricle.\n", + " definition of HP:0002623 (Overriding aorta)\n", + " \n", + " \n", + " #Dextroposition of aorta #Overriding aortic valve\n", + " definition of HP:0002623 (Overriding aorta)\n", + " \n", + " \n", + " Narrow naris\n", + " definition of HP:0009933 (Narrow naris)\n", + " \n", + " \n", + " Slender, slit-like aperture of the nostril.\n", + " definition of HP:0009933 (Narrow naris)\n", + " \n", + " \n", + " #Naris, narrow #Naris, slit-like #Narrow nares #Narrow nostrils #Slit-like nostrils #Small nostrils #Thin nares #Thin nostrils\n", + " definition of HP:0009933 (Narrow naris)\n", + " \n", + " \n", + " Elevated fetal middle cerebral artery peak systolic velocity\n", + " definition of HP:0034191 (Elevated fetal middle cerebral artery peak systolic velocity)\n", + " \n", + " \n", + " Increased peak systolic velocity of the fetal middle cerebral artery (MCA) as evaluated by Doppler ultrasound.\n", + " definition of HP:0034191 (Elevated fetal middle cerebral artery peak systolic velocity)\n", + " \n", + " \n", + " Increased RIPA\n", + " definition of HP:0040241 (Increased RIPA)\n", + " \n", + " \n", + " Increased platelet agglutination in response to low-dose ristocetin\n", + " definition of HP:0040241 (Increased RIPA)\n", + " \n", + " \n", + " Anotia\n", + " definition of HP:0009892 (Anotia)\n", + " \n", + " \n", + " Complete absence of any auricular structures.\n", + " definition of HP:0009892 (Anotia)\n", + " \n", + " \n", + " Congenital pyloric atresia\n", + " definition of HP:0004399 (Congenital pyloric atresia)\n", + " \n", + " \n", + " Congenital atresia of the pylorus.\n", + " definition of HP:0004399 (Congenital pyloric atresia)\n", + " \n", + " \n", + " Increased anti-animal protein IgE antibody level\n", + " definition of HP:0410221 (Increased anti-animal protein IgE antibody level)\n", + " \n", + " \n", + " Increased level of IgE antibody against animal proteins, such as albumins that are present in animal hair, dander, shed skin, saliva and urine.\n", + " definition of HP:0410221 (Increased anti-animal protein IgE antibody level)\n", + " \n", + " \n", + " #Increased level of anti-animal protein IgE antibody\n", + " definition of HP:0410221 (Increased anti-animal protein IgE antibody level)\n", + " \n", + " \n", + " Dysharmonic skeletal maturation\n", + " definition of HP:0200000 (Dysharmonic skeletal maturation)\n", + " \n", + " \n", + " Different levels of maturation of different bones.\n", + " definition of HP:0200000 (Dysharmonic skeletal maturation)\n", + " \n", + " \n", + " #Dysharmonic bone age #Dysharmonic skeletal maturation\n", + " definition of HP:0200000 (Dysharmonic skeletal maturation)\n", + " \n", + " \n", + " Hepatic sinusoidal dilatation\n", + " definition of HP:0035006 (Hepatic sinusoidal dilatation)\n", + " \n", + " \n", + " Presence of an increased amount of blood in the hepatic capillaries.\n", + " definition of HP:0035006 (Hepatic sinusoidal dilatation)\n", + " \n", + " \n", + " Invasive parasitic infection\n", + " definition of HP:0031700 (Invasive parasitic infection)\n", + " \n", + " \n", + " A parasitic infection whereby the parasite invades (migrates through) tissues of the infected host.\n", + " definition of HP:0031700 (Invasive parasitic infection)\n", + " \n", + " \n", + " Decreased platelet thromboxane A2 receptor\n", + " definition of HP:0031124 (Decreased platelet thromboxane A2 receptor)\n", + " \n", + " \n", + " Decreased cell membrane concentration of thromboxane A2 receptor that is stimulated by thromboxane A2 (TBXA2).\n", + " definition of HP:0031124 (Decreased platelet thromboxane A2 receptor)\n", + " \n", + " \n", + " Abnormality of the internal capsule\n", + " definition of HP:0012502 (Abnormality of the internal capsule)\n", + " \n", + " \n", + " An anomaly of the internal capsule, which is an area of white matter in the brain that separates the caudate nucleus and the thalamus from the putamen and the globus pallidus.\n", + " definition of HP:0012502 (Abnormality of the internal capsule)\n", + " \n", + " \n", + " Amniotic constriction rings of legs\n", + " definition of HP:0010495 (Amniotic constriction rings of legs)\n", + " \n", + " \n", + " Amniotic constriction rings affecting the legs.\n", + " definition of HP:0010495 (Amniotic constriction rings of legs)\n", + " \n", + " \n", + " Inferior cerebellar vermis hypoplasia\n", + " definition of HP:0007068 (Inferior cerebellar vermis hypoplasia)\n", + " \n", + " \n", + " Underdevelopment of the inferior portion of the vermis of cerebellum.\n", + " definition of HP:0007068 (Inferior cerebellar vermis hypoplasia)\n", + " \n", + " \n", + " #Hypoplasia of inferior vermis #Inferior vermis hypoplasia\n", + " definition of HP:0007068 (Inferior cerebellar vermis hypoplasia)\n", + " \n", + " \n", + " Irregular chondrocostal junctions\n", + " definition of HP:0006606 (Irregular chondrocostal junctions)\n", + " \n", + " \n", + " Irregular surface of the normally relatively smooth border between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum.\n", + " definition of HP:0006606 (Irregular chondrocostal junctions)\n", + " \n", + " \n", + " #Irregular costochondral margins\n", + " definition of HP:0006606 (Irregular chondrocostal junctions)\n", + " \n", + " \n", + " Peripheral thrombosis\n", + " definition of HP:0002641 (Peripheral thrombosis)\n", + " \n", + " \n", + " #Peripheral blood clot\n", + " definition of HP:0002641 (Peripheral thrombosis)\n", + " \n", + " \n", + " Hydrophobia\n", + " definition of HP:0032505 (Hydrophobia)\n", + " \n", + " \n", + " The word hydrophobia has been used to describe the avoidance of drinking in the presence of hydrophobic spasms that can be observed in human rabies (described as a blockage in the throat with worsening of dyspnea). However, rarely, the same word has been used to describe panic reactions observed in a patient when offered a glass of water. This term does not refer to the latter meaning.\n", + " definition of HP:0032505 (Hydrophobia)\n", + " \n", + " \n", + " Hair xenobiotic\n", + " definition of HP:0500099 (Hair xenobiotic)\n", + " \n", + " \n", + " Presence of xenobiotic in hair.\n", + " definition of HP:0500099 (Hair xenobiotic)\n", + " \n", + " \n", + " Female fetal virilization\n", + " definition of HP:0031170 (Female fetal virilization)\n", + " \n", + " \n", + " Fetal masculinization of female external genitalia.\n", + " definition of HP:0031170 (Female fetal virilization)\n", + " \n", + " \n", + " #Female foetal virilization\n", + " definition of HP:0031170 (Female fetal virilization)\n", + " \n", + " \n", + " Anterior predominant thick cortex pachygyria\n", + " definition of HP:0020191 (Anterior predominant thick cortex pachygyria)\n", + " \n", + " \n", + " Pachygyria with cortical thickness greater than 10 mm and an anterior predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Anterior predominant gradient indicates pachygyria more severe over the frontal and temporal lobes.\n", + " definition of HP:0020191 (Anterior predominant thick cortex pachygyria)\n", + " \n", + " \n", + " #Pachygyria with cortical thickness > 10 mm anterior predominant\n", + " definition of HP:0020191 (Anterior predominant thick cortex pachygyria)\n", + " \n", + " \n", + " Retinopathy of prematurity stage 1\n", + " definition of HP:0500050 (Retinopathy of prematurity stage 1)\n", + " \n", + " \n", + " The retinal vessels stop and then a linear flat white line is present that usually runs the circumference of the vascular retina.\n", + " definition of HP:0500050 (Retinopathy of prematurity stage 1)\n", + " \n", + " \n", + " #ROP stage 1\n", + " definition of HP:0500050 (Retinopathy of prematurity stage 1)\n", + " \n", + " \n", + " Iron accumulation in substantia nigra\n", + " definition of HP:0012678 (Iron accumulation in substantia nigra)\n", + " \n", + " \n", + " An anomalous build up of iron (Fe) in the substantia nigra.\n", + " definition of HP:0012678 (Iron accumulation in substantia nigra)\n", + " \n", + " \n", + " Abnormal CD25 upregulation upon TCR activation\n", + " definition of HP:0031269 (Abnormal CD25 upregulation upon TCR activation)\n", + " \n", + " \n", + " Any abnormality in the upregulation of CD25 on T cells after activation via the T cell receptor (TCR). CD25 is the alpha chain of the IL2 receptor. Ligation of the T cell antigen receptor leads to the induction of CD25 expression.\n", + " definition of HP:0031269 (Abnormal CD25 upregulation upon TCR activation)\n", + " \n", + " \n", + " Double outlet left ventricle\n", + " definition of HP:0011581 (Double outlet left ventricle)\n", + " \n", + " \n", + " A congenital defect of heart development characterized by origin of both pulmonary artery and aorta from the morphological left ventricle.\n", + " definition of HP:0011581 (Double outlet left ventricle)\n", + " \n", + " \n", + " Stippling of the epiphysis of the distal phalanx of the 3rd finger\n", + " definition of HP:0009344 (Stippling of the epiphysis of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 3rd finger.\n", + " definition of HP:0009344 (Stippling of the epiphysis of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Speckled calcifications in end part of the outermost long bone of the middle finger\n", + " definition of HP:0009344 (Stippling of the epiphysis of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Broad proximal phalanx of the 5th finger\n", + " definition of HP:0009227 (Broad proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " Increased width of the proximal phalanx of the 5th finger.\n", + " definition of HP:0009227 (Broad proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " #Broad innermost little finger bone #Broad innermost pinkie finger bone #Broad innermost pinky finger bone #Wide proximal phalanx of the 5th finger\n", + " definition of HP:0009227 (Broad proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " Superior mediastinal mass\n", + " definition of HP:0033825 (Superior mediastinal mass)\n", + " \n", + " \n", + " A type of mediastinal mass that is located above the thoracic plane (a horizontal line that runs from the manubriosternal joint (sternal angle or angle of Louis) to the inferior endplate of T4).\n", + " definition of HP:0033825 (Superior mediastinal mass)\n", + " \n", + " \n", + " Increased urine phenylacetylglutamine level\n", + " definition of HP:0034887 (Increased urine phenylacetylglutamine level)\n", + " \n", + " \n", + " The concentration of phenylacetylglutamine in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:0034887 (Increased urine phenylacetylglutamine level)\n", + " \n", + " \n", + " Suprabasal cleavage\n", + " definition of HP:0034194 (Suprabasal cleavage)\n", + " \n", + " \n", + " Cleavage within the suprabasal cell layer of the epidermis, which lies directly above the basal layer and is composed of five to ten layers of cells.\n", + " definition of HP:0034194 (Suprabasal cleavage)\n", + " \n", + " \n", + " #Blistering with suprabasal clefting\n", + " definition of HP:0034194 (Suprabasal cleavage)\n", + " \n", + " \n", + " Abnormality of the middle phalanx of the 2nd finger\n", + " definition of HP:0009543 (Abnormality of the middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Abnormal middle index finger bone #Abnormality of middle 2nd finger phalanx\n", + " definition of HP:0009543 (Abnormality of the middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " Hyperimidodipeptiduria\n", + " definition of HP:0033187 (Hyperimidodipeptiduria)\n", + " \n", + " \n", + " Elevated levels of proline-containing dipeptides in urine.\n", + " definition of HP:0033187 (Hyperimidodipeptiduria)\n", + " \n", + " \n", + " #Imidodipeptiduria\n", + " definition of HP:0033187 (Hyperimidodipeptiduria)\n", + " \n", + " \n", + " Partial duplication of the distal phalanx of the 2nd finger\n", + " definition of HP:0009951 (Partial duplication of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Partial duplication of the distal phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx.\n", + " definition of HP:0009951 (Partial duplication of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Bifid terminal phalanx of the 2nd finger #Notched outermost bone of the index finger #Partial duplication of the outermost bone of the 2nd finger\n", + " definition of HP:0009951 (Partial duplication of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Neoplasm of the lip\n", + " definition of HP:0100604 (Neoplasm of the lip)\n", + " \n", + " \n", + " A tumor (abnormal growth of tissue) of the lip.\n", + " definition of HP:0100604 (Neoplasm of the lip)\n", + " \n", + " \n", + " #Lip tumor #Lip tumour\n", + " definition of HP:0100604 (Neoplasm of the lip)\n", + " \n", + " \n", + " EEG with frontal sharp slow waves\n", + " definition of HP:0011290 (EEG with frontal sharp slow waves)\n", + " \n", + " \n", + " EEG with sharp slow waves in the frontal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.\n", + " definition of HP:0011290 (EEG with frontal sharp slow waves)\n", + " \n", + " \n", + " Abnormal amygdala morphology\n", + " definition of HP:0033668 (Abnormal amygdala morphology)\n", + " \n", + " \n", + " A structural anomaly of the amygdala.\n", + " definition of HP:0033668 (Abnormal amygdala morphology)\n", + " \n", + " \n", + " #Abnormal morphology of the amygdala\n", + " definition of HP:0033668 (Abnormal amygdala morphology)\n", + " \n", + " \n", + " Focal aware autonomic seizure with pallor/flushing\n", + " definition of HP:0032761 (Focal aware autonomic seizure with pallor/flushing)\n", + " \n", + " \n", + " A focal autonomic seizure with pallor / flushing characterized by retained awareness throughout the seizure.\n", + " definition of HP:0032761 (Focal aware autonomic seizure with pallor/flushing)\n", + " \n", + " \n", + " EEG with frontal sharp waves\n", + " definition of HP:0011294 (EEG with frontal sharp waves)\n", + " \n", + " \n", + " EEG with sharp waves in the frontal region, i.e., sharp transient waves of a duration between 80 and 200 msec.\n", + " definition of HP:0011294 (EEG with frontal sharp waves)\n", + " \n", + " \n", + " Progressive spinal muscular atrophy\n", + " definition of HP:0009067 (Progressive spinal muscular atrophy)\n", + " \n", + " \n", + " Progressive spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem.\n", + " definition of HP:0009067 (Progressive spinal muscular atrophy)\n", + " \n", + " \n", + " #Progressive spinal muscle degeneration #Progressive spinal muscle wasting\n", + " definition of HP:0009067 (Progressive spinal muscular atrophy)\n", + " \n", + " \n", + " 6-mercaptopurine exposure\n", + " definition of HP:4000136 (6-mercaptopurine exposure)\n", + " \n", + " \n", + " History of having been treateed with 6-mercaptopurine.\n", + " definition of HP:4000136 (6-mercaptopurine exposure)\n", + " \n", + " \n", + " Proximal humeral metaphyseal irregularity\n", + " definition of HP:0005043 (Proximal humeral metaphyseal irregularity)\n", + " \n", + " \n", + " Irregularity of the normally smooth surface of the metaphysis at the proximal end of the humerus (at the shoulder).\n", + " definition of HP:0005043 (Proximal humeral metaphyseal irregularity)\n", + " \n", + " \n", + " #Irregular proximal humeral metaphyses\n", + " definition of HP:0005043 (Proximal humeral metaphyseal irregularity)\n", + " \n", + " \n", + " Atrophy of alveolar ridges\n", + " definition of HP:0006308 (Atrophy of alveolar ridges)\n", + " \n", + " \n", + " #Atrophy of alveolar margins #Atrophy of alveolar processes of jaw #Resorption of alveolar margins #Resorption of alveolar processes of jaw #Resorption of alveolar ridges #Shrinking of alveolar ridges #Shrinking of gum ridges\n", + " definition of HP:0006308 (Atrophy of alveolar ridges)\n", + " \n", + " \n", + " Abnormal toenail morphology\n", + " definition of HP:0008388 (Abnormal toenail morphology)\n", + " \n", + " \n", + " An anomaly of the toenail.\n", + " definition of HP:0008388 (Abnormal toenail morphology)\n", + " \n", + " \n", + " #Abnormality of the toenail #Abnormality of the toenails\n", + " definition of HP:0008388 (Abnormal toenail morphology)\n", + " \n", + " \n", + " Predominantly lower limb lymphedema\n", + " definition of HP:0003550 (Predominantly lower limb lymphedema)\n", + " \n", + " \n", + " Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs.\n", + " definition of HP:0003550 (Predominantly lower limb lymphedema)\n", + " \n", + " \n", + " Medial canthal tendon laxity\n", + " definition of HP:0032031 (Medial canthal tendon laxity)\n", + " \n", + " \n", + " Laxity of the tendon stabilizing the medial aspect of the tarsal plate to the anterior and posterior lacrimal crests. This may lead to more than 2mm movement of the punctum when the eyelid is pulled laterally.\n", + " definition of HP:0032031 (Medial canthal tendon laxity)\n", + " \n", + " \n", + " Temporomandibular joint dislocation\n", + " definition of HP:6000814 (Temporomandibular joint dislocation)\n", + " \n", + " \n", + " The lower jawbone (mandible) pulls away from the temporomandibular joints (TMJ). It is characterized by pain, clicking and functional restriction.\n", + " definition of HP:6000814 (Temporomandibular joint dislocation)\n", + " \n", + " \n", + " #Temporomandibular malocclusion\n", + " definition of HP:6000814 (Temporomandibular joint dislocation)\n", + " \n", + " \n", + " Cerebral artery atherosclerosis\n", + " definition of HP:0007201 (Cerebral artery atherosclerosis)\n", + " \n", + " \n", + " The formation of the formation of fibrofatty lesions in the wall of an artery located in the brain.\n", + " definition of HP:0007201 (Cerebral artery atherosclerosis)\n", + " \n", + " \n", + " Increased carrying angle\n", + " definition of HP:0003102 (Increased carrying angle)\n", + " \n", + " \n", + " An abnormal increase in the carrying angle, which is the angle he long axis of the extended forearm as it lies lateral to the long axis of the arm.\n", + " definition of HP:0003102 (Increased carrying angle)\n", + " \n", + " \n", + " Abnormal fetal skeletal morphology\n", + " definition of HP:0025662 (Abnormal fetal skeletal morphology)\n", + " \n", + " \n", + " An anomalous structural finding of the fetal skeleton. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other terms from the skeletal hierarchy can also be used to describe fetal phenotypes.\n", + " definition of HP:0025662 (Abnormal fetal skeletal morphology)\n", + " \n", + " \n", + " Dermolipoma of the conjunctiva\n", + " definition of HP:0500040 (Dermolipoma of the conjunctiva)\n", + " \n", + " \n", + " A benign tumor composed of adipose tissue and dense connective tissue usually located near the temporal fornix.\n", + " definition of HP:0500040 (Dermolipoma of the conjunctiva)\n", + " \n", + " \n", + " #Conjunctival lipodermoid\n", + " definition of HP:0500040 (Dermolipoma of the conjunctiva)\n", + " \n", + " \n", + " Premature sagging cheeks\n", + " definition of HP:0034273 (Premature sagging cheeks)\n", + " \n", + " \n", + " Drooping or sinking of tissues of the cheeks more than would be expected at a given age. Sagging can occur due to a relative excess of skin and/or lack of elastic recoil as well as fat accumulation.\n", + " definition of HP:0034273 (Premature sagging cheeks)\n", + " \n", + " \n", + " #Premature facial sagging\n", + " definition of HP:0034273 (Premature sagging cheeks)\n", + " \n", + " \n", + " Renal arteriole medial atrophy\n", + " definition of HP:0033908 (Renal arteriole medial atrophy)\n", + " \n", + " \n", + " Atrophy (wasting, decreased thickness) of of the middle layer of the arterioles of the kidney.\n", + " definition of HP:0033908 (Renal arteriole medial atrophy)\n", + " \n", + " \n", + " Stippling of the epiphyses of the 5th finger\n", + " definition of HP:0009391 (Stippling of the epiphyses of the 5th finger)\n", + " \n", + " \n", + " The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th finger.\n", + " definition of HP:0009391 (Stippling of the epiphyses of the 5th finger)\n", + " \n", + " \n", + " #Speckled calcifications in end part of little finger bone #Speckled calcifications in end part of pinkie finger bone #Speckled calcifications in end part of pinky finger bone\n", + " definition of HP:0009391 (Stippling of the epiphyses of the 5th finger)\n", + " \n", + " \n", + " Pulmonic valve myxoma\n", + " definition of HP:0006691 (Pulmonic valve myxoma)\n", + " \n", + " \n", + " A benign tumor of connective tissue containing mucous or gelatinous material (myxoma) localized in the pumonic valve.\n", + " definition of HP:0006691 (Pulmonic valve myxoma)\n", + " \n", + " \n", + " Increased vertical cup-to-disc ratio - 0.7\n", + " definition of HP:0031975 (Increased vertical cup-to-disc ratio - 0.7)\n", + " \n", + " \n", + " Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.7 (The normal cup-to-disc ratio is 0.3).\n", + " definition of HP:0031975 (Increased vertical cup-to-disc ratio - 0.7)\n", + " \n", + " \n", + " Pseudoepiphyses of second metacarpal\n", + " definition of HP:0006179 (Pseudoepiphyses of second metacarpal)\n", + " \n", + " \n", + " #Extra bone on end of second long bone of hand #Pseudoepiphysis of the 2nd metacarpal\n", + " definition of HP:0006179 (Pseudoepiphyses of second metacarpal)\n", + " \n", + " \n", + " Right ventricular regional wall motion abnormality\n", + " definition of HP:6000664 (Right ventricular regional wall motion abnormality)\n", + " \n", + " \n", + " The occurrence of abnormal or absent contractility of a region of the heart muscle of the right ventricule. Conventional assessment of RWMA is based on visual interpretation of endocardial excursion and myocardial thickening from the echocardiogram videos.\n", + " definition of HP:6000664 (Right ventricular regional wall motion abnormality)\n", + " \n", + " \n", + " Ascending aorta hypoplasia\n", + " definition of HP:0031935 (Ascending aorta hypoplasia)\n", + " \n", + " \n", + " Significant luminal narrowing of a long segment of or the entire ascending aorta.\n", + " definition of HP:0031935 (Ascending aorta hypoplasia)\n", + " \n", + " \n", + " Use of intrauterine device\n", + " definition of HP:6000167 (Use of intrauterine device)\n", + " \n", + " \n", + " Intrauterine devices (IUD) are commonly used for contraception. IUD complications are rare, but include perforation, pelvic infection, expulsion, missing strings, and difficult IUD removal.\n", + " definition of HP:6000167 (Use of intrauterine device)\n", + " \n", + " \n", + " Hyperornithinemia\n", + " definition of HP:0012026 (Hyperornithinemia)\n", + " \n", + " \n", + " Increased concentration of ornithine in the blood.\n", + " definition of HP:0012026 (Hyperornithinemia)\n", + " \n", + " \n", + " #High blood ornithine levels\n", + " definition of HP:0012026 (Hyperornithinemia)\n", + " \n", + " \n", + " Ameliorated by riboflavin\n", + " definition of HP:6000373 (Ameliorated by riboflavin)\n", + " \n", + " \n", + " Applies to a sign or symptom that is improved or made more bearable by ingestion of riboflavin (Vitamin B2).\n", + " definition of HP:6000373 (Ameliorated by riboflavin)\n", + " \n", + " \n", + " Superficial blush-like subcutaneous fatty lesions\n", + " definition of HP:6000056 (Superficial blush-like subcutaneous fatty lesions)\n", + " \n", + " \n", + " Multiple, oblong, fatty lesions in the superficial subcutaneous fatty tissue. They are mostly under 2 cm in long axis diameter. They demonstrate nodular (blush-like) increased fluid signal at unenhanced MRI and are markedly hyperechoic at ultrasound.\n", + " definition of HP:6000056 (Superficial blush-like subcutaneous fatty lesions)\n", + " \n", + " \n", + " Abnormality of taste sensation\n", + " definition of HP:0000223 (Abnormality of taste sensation)\n", + " \n", + " \n", + " #Abnormality of taste sensation\n", + " definition of HP:0000223 (Abnormality of taste sensation)\n", + " \n", + " \n", + " Depression\n", + " definition of HP:0000716 (Depression)\n", + " \n", + " \n", + " Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.\n", + " definition of HP:0000716 (Depression)\n", + " \n", + " \n", + " #Depression #Depressive episode #Depressivity\n", + " definition of HP:0000716 (Depression)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the proximal phalanx of the hallux\n", + " definition of HP:0010085 (Aplasia/Hypoplasia of the proximal phalanx of the hallux)\n", + " \n", + " \n", + " #Absent/small innermost big toe bone #Absent/underdeveloped innermost big toe bone\n", + " definition of HP:0010085 (Aplasia/Hypoplasia of the proximal phalanx of the hallux)\n", + " \n", + " \n", + " Tension-type headache\n", + " definition of HP:0012228 (Tension-type headache)\n", + " \n", + " \n", + " A type of headache that last hours with continuous pain of mild or moderate intensity, bilateral location, a pressing/tightening (non-pulsating) quality and that is not aggravated by routine physical activity such as walking or climbing stairs.\n", + " definition of HP:0012228 (Tension-type headache)\n", + " \n", + " \n", + " #Tension-type headache\n", + " definition of HP:0012228 (Tension-type headache)\n", + " \n", + " \n", + " Anti-PM-Scl antibody positivity\n", + " definition of HP:0033560 (Anti-PM-Scl antibody positivity)\n", + " \n", + " \n", + " Anti-PM-Scl antibodies target components of RNA-processing exosome complex in the nucleolus. There are ten proteins in this complex and antibodies to eight of them are found at varying frequencies; PM/Scl-100, PM/Scl-75, hRrp4, hRrp42, hRrp46, hCs14, hRrp41, and hRrp40.\n", + " definition of HP:0033560 (Anti-PM-Scl antibody positivity)\n", + " \n", + " \n", + " #Anti-PM/Scl antibody positivity\n", + " definition of HP:0033560 (Anti-PM-Scl antibody positivity)\n", + " \n", + " \n", + " Subcortical dementia\n", + " definition of HP:0007123 (Subcortical dementia)\n", + " \n", + " \n", + " A particular type of dementia characterized by a pattern of mental defects consisting prominently of forgetfulness, slowness of thought processes, and personality or mood change.\n", + " definition of HP:0007123 (Subcortical dementia)\n", + " \n", + " \n", + " Irregular epiphysis of the middle phalanx of the 3rd toe\n", + " definition of HP:0100151 (Irregular epiphysis of the middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Irregular end part of the middle bone of the 3rd toe\n", + " definition of HP:0100151 (Irregular epiphysis of the middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " Laryngeal mass\n", + " definition of HP:0034412 (Laryngeal mass)\n", + " \n", + " \n", + " A lump in the region of the larynx. A mass is any lump in the body that can be caused by the abnormal growth of cells, a cyst, hormonal changes or an immune reaction. Typically a mass is an initial finding that will lead to additional workup. Laryngeal masses can be visualized by multiple methods include computed tomography.\n", + " definition of HP:0034412 (Laryngeal mass)\n", + " \n", + " \n", + " Sleep-related breathing disorders\n", + " definition of HP:5200283 (Sleep-related breathing disorders)\n", + " \n", + " \n", + " Conditions of abnormal and difficult respiration during sleep, including chronic snoring and sleep apnea.\n", + " definition of HP:5200283 (Sleep-related breathing disorders)\n", + " \n", + " \n", + " #Difficult respiration during sleep\n", + " definition of HP:5200283 (Sleep-related breathing disorders)\n", + " \n", + " \n", + " Dysgenesis of the hypothalamus\n", + " definition of HP:0025098 (Dysgenesis of the hypothalamus)\n", + " \n", + " \n", + " Structural abnormality of the hypothalamus related to defective development.\n", + " definition of HP:0025098 (Dysgenesis of the hypothalamus)\n", + " \n", + " \n", + " #Hypothalamic dysgenesis\n", + " definition of HP:0025098 (Dysgenesis of the hypothalamus)\n", + " \n", + " \n", + " Excessive skin wrinkling on dorsum of hands and fingers\n", + " definition of HP:0007407 (Excessive skin wrinkling on dorsum of hands and fingers)\n", + " \n", + " \n", + " #Excessive skin wrinkling on back of hands and fingers\n", + " definition of HP:0007407 (Excessive skin wrinkling on dorsum of hands and fingers)\n", + " \n", + " \n", + " Pseudoepiphyses of the 3rd toe\n", + " definition of HP:0100062 (Pseudoepiphyses of the 3rd toe)\n", + " \n", + " \n", + " Elevated circulating octanoylcarnitine concentration\n", + " definition of HP:6000272 (Elevated circulating octanoylcarnitine concentration)\n", + " \n", + " \n", + " Concentration of octanoylcarnitine (C8:0) in the blood circulation above the upper limit of normal.\n", + " definition of HP:6000272 (Elevated circulating octanoylcarnitine concentration)\n", + " \n", + " \n", + " #Elevated circulating C8:0 acylcarnitine concentration\n", + " definition of HP:6000272 (Elevated circulating octanoylcarnitine concentration)\n", + " \n", + " \n", + " Acute disseminated intravascular coagulation\n", + " definition of HP:0011880 (Acute disseminated intravascular coagulation)\n", + " \n", + " \n", + " An acute form of disseminated intravascular coagulation. Acute DIC can occur following sudden exposure of blood to procoagulants, with the compensatory hemostatic mechanisms becoming overwhelmed.\n", + " definition of HP:0011880 (Acute disseminated intravascular coagulation)\n", + " \n", + " \n", + " Neoplasm of the genitourinary tract\n", + " definition of HP:0007379 (Neoplasm of the genitourinary tract)\n", + " \n", + " \n", + " A tumor (abnormal growth of tissue) of the genitourinary system.\n", + " definition of HP:0007379 (Neoplasm of the genitourinary tract)\n", + " \n", + " \n", + " #Genitourinary tract neoplasm #Genitourinary tract tumors #Genitourinary tract tumours #Neoplasm of the GU tract\n", + " definition of HP:0007379 (Neoplasm of the genitourinary tract)\n", + " \n", + " \n", + " Moderately reduced left ventricular ejection fraction\n", + " definition of HP:0012665 (Moderately reduced left ventricular ejection fraction)\n", + " \n", + " \n", + " A medium reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle, defined as a left ventricular ejection fraction of 30-39 percent.\n", + " definition of HP:0012665 (Moderately reduced left ventricular ejection fraction)\n", + " \n", + " \n", + " #Moderately reduced ejection fraction\n", + " definition of HP:0012665 (Moderately reduced left ventricular ejection fraction)\n", + " \n", + " \n", + " Reduced heme oxygenase activity\n", + " definition of HP:0034716 (Reduced heme oxygenase activity)\n", + " \n", + " \n", + " Activity of the enzyme heme oxygenase below the lower limit of normal.\n", + " definition of HP:0034716 (Reduced heme oxygenase activity)\n", + " \n", + " \n", + " Vertebral compression fracture\n", + " definition of HP:0002953 (Vertebral compression fracture)\n", + " \n", + " \n", + " #Compression fracture of a vertebral body #Fractures of vertebral bodies #Vertebral body compression #Vertebral collapse #Vertebral compression #Vertebral compression fractures #Vertebral compression or collapse\n", + " definition of HP:0002953 (Vertebral compression fracture)\n", + " \n", + " \n", + " Osteolytic defects of the middle phalanx of the 4th toe\n", + " definition of HP:0100453 (Osteolytic defects of the middle phalanx of the 4th toe)\n", + " \n", + " \n", + " Increased fecal isocoproporphyrin\n", + " definition of HP:0034475 (Increased fecal isocoproporphyrin)\n", + " \n", + " \n", + " Abnormally high concentration of isocoproporphyrin in feces.\n", + " definition of HP:0034475 (Increased fecal isocoproporphyrin)\n", + " \n", + " \n", + " #Isocoproporphyrin high in stool\n", + " definition of HP:0034475 (Increased fecal isocoproporphyrin)\n", + " \n", + " \n", + " Superior rectus muscle restriction\n", + " definition of HP:0031746 (Superior rectus muscle restriction)\n", + " \n", + " \n", + " Mechanical limitation of the range of movement of the superior rectus muscle.\n", + " definition of HP:0031746 (Superior rectus muscle restriction)\n", + " \n", + " \n", + " Foamy urine\n", + " definition of HP:0031504 (Foamy urine)\n", + " \n", + " \n", + " Urine has an increased amount of frothy fine bubbles.\n", + " definition of HP:0031504 (Foamy urine)\n", + " \n", + " \n", + " #Frothy urine\n", + " definition of HP:0031504 (Foamy urine)\n", + " \n", + " \n", + " Cutaneous leiomyosarcoma\n", + " definition of HP:0006755 (Cutaneous leiomyosarcoma)\n", + " \n", + " \n", + " The presence of leiomyosarcoma of the skin.\n", + " definition of HP:0006755 (Cutaneous leiomyosarcoma)\n", + " \n", + " \n", + " Multifocal splenic abscess\n", + " definition of HP:0025060 (Multifocal splenic abscess)\n", + " \n", + " \n", + " Multiple abscess lesions in the spleen.\n", + " definition of HP:0025060 (Multifocal splenic abscess)\n", + " \n", + " \n", + " #Multilocular splenic abscess\n", + " definition of HP:0025060 (Multifocal splenic abscess)\n", + " \n", + " \n", + " Prolonged use of tightly fitting footwear\n", + " definition of HP:6001066 (Prolonged use of tightly fitting footwear)\n", + " \n", + " \n", + " History of use of tightly fitting shoes for a long period of time.\n", + " definition of HP:6001066 (Prolonged use of tightly fitting footwear)\n", + " \n", + " \n", + " Fusion of the left and right thalami\n", + " definition of HP:0010664 (Fusion of the left and right thalami)\n", + " \n", + " \n", + " A developmental defect characterized by fusion of the left and right halves of the thalamus.\n", + " definition of HP:0010664 (Fusion of the left and right thalami)\n", + " \n", + " \n", + " #Fused thalami #Undivided thalami\n", + " definition of HP:0010664 (Fusion of the left and right thalami)\n", + " \n", + " \n", + " Nailfold capillary tortuosity\n", + " definition of HP:0033250 (Nailfold capillary tortuosity)\n", + " \n", + " \n", + " An increased number of turns of the blood vessels of the nailfold with a charactereistic winded or twisted appearance of the blood vessels.\n", + " definition of HP:0033250 (Nailfold capillary tortuosity)\n", + " \n", + " \n", + " Distichiasis\n", + " definition of HP:0009743 (Distichiasis)\n", + " \n", + " \n", + " Double rows of eyelashes.\n", + " definition of HP:0009743 (Distichiasis)\n", + " \n", + " \n", + " #Distichiasis of eyelid eyelashes\n", + " definition of HP:0009743 (Distichiasis)\n", + " \n", + " \n", + " Anterior staphyloma\n", + " definition of HP:0030855 (Anterior staphyloma)\n", + " \n", + " \n", + " A localized defect in the anterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure.\n", + " definition of HP:0030855 (Anterior staphyloma)\n", + " \n", + " \n", + " Vertical supranuclear gaze palsy\n", + " definition of HP:0000511 (Vertical supranuclear gaze palsy)\n", + " \n", + " \n", + " A supranuclear gaze palsy is an inability to look in a vertical direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.\n", + " definition of HP:0000511 (Vertical supranuclear gaze palsy)\n", + " \n", + " \n", + " #Vertical gaze palsy #VSGP\n", + " definition of HP:0000511 (Vertical supranuclear gaze palsy)\n", + " \n", + " \n", + " Ectopic thymus tissue\n", + " definition of HP:0010517 (Ectopic thymus tissue)\n", + " \n", + " \n", + " The presence of ectopic thymus tissue. Normally, cells of the ventral bud of the third pharyngeal pouch detach and migrate in the eighth gestational week caudally and medially towards the location of the mature thyroid. They migrate further retrosternally into the superior mediastinum. There are two main ways ectopic thymus tissue can develop. Either cells detach along the descensus path and proliferate, thereby forming accessory thymus tissue, or the entire gland fails to descend.\n", + " definition of HP:0010517 (Ectopic thymus tissue)\n", + " \n", + " \n", + " #Abnormal thymus position\n", + " definition of HP:0010517 (Ectopic thymus tissue)\n", + " \n", + " \n", + " Intralobular interstitial thickening\n", + " definition of HP:0025176 (Intralobular interstitial thickening)\n", + " \n", + " \n", + " A fine reticular pattern on high-resolution computed tomography, with the visible lines separated by a few millimeters. Regions of the lung with intralobular interstitial thickening characteristically show a fine lacelike or netlike appearance.\n", + " definition of HP:0025176 (Intralobular interstitial thickening)\n", + " \n", + " \n", + " Renal intratubular casts\n", + " definition of HP:0032623 (Renal intratubular casts)\n", + " \n", + " \n", + " Urinary casts are formed in the distal convoluted tubule or the collecting duct by solidification of protein in the lumen of the kidney tubules. This term refers to casts located within the tubuli of the kidney. More precisely, casts are defined as a material that completely fills and expands the tubular lumen with simplification of surrounding tubular epithelium. Casts are classified as either nuclear debris/granular brown material, red blood cell, white blood cell, myeloma, or myoglobin cast.\n", + " definition of HP:0032623 (Renal intratubular casts)\n", + " \n", + " \n", + " #Tubular casts\n", + " definition of HP:0032623 (Renal intratubular casts)\n", + " \n", + " \n", + " Absent muscle fiber merosin\n", + " definition of HP:0030091 (Absent muscle fiber merosin)\n", + " \n", + " \n", + " Lack of merosin protein in the muscle biopsy.\n", + " definition of HP:0030091 (Absent muscle fiber merosin)\n", + " \n", + " \n", + " #Absent merosin staining in muscle biopsy #Absent muscle fiber laminin alpha 2 #Absent muscle fibre laminin alpha 2 #Absent muscle fibre merosin\n", + " definition of HP:0030091 (Absent muscle fiber merosin)\n", + " \n", + " \n", + " Proximal/middle symphalangism of 3rd finger\n", + " definition of HP:0009482 (Proximal/middle symphalangism of 3rd finger)\n", + " \n", + " \n", + " Fusion of the proximal and middle phalanges of the 3rd finger.\n", + " definition of HP:0009482 (Proximal/middle symphalangism of 3rd finger)\n", + " \n", + " \n", + " #Fused of innermost and middle bones of middle finger\n", + " definition of HP:0009482 (Proximal/middle symphalangism of 3rd finger)\n", + " \n", + " \n", + " Branchial sinus\n", + " definition of HP:0100272 (Branchial sinus)\n", + " \n", + " \n", + " A congenital branchial sinus is a remnant of the embryonic branchial arches and their intervening clefts and pouches that has failed to regress completely. Sinuses typically have their external orifice inferior to the ramus of the mandible. They may traverse the parotid gland, and run in close vicinity to the facial nerve in the external auditory canal.\n", + " definition of HP:0100272 (Branchial sinus)\n", + " \n", + " \n", + " #Branchial cleft sinus\n", + " definition of HP:0100272 (Branchial sinus)\n", + " \n", + " \n", + " Neoplasm of the gastrointestinal tract\n", + " definition of HP:0007378 (Neoplasm of the gastrointestinal tract)\n", + " \n", + " \n", + " A tumor (abnormal growth of tissue) of the gastrointestinal tract.\n", + " definition of HP:0007378 (Neoplasm of the gastrointestinal tract)\n", + " \n", + " \n", + " #Gastrointestinal tract neoplasia #Gastrointestinal tract neoplasm #Gastrointestinal tract tumor #Gastrointestinal tract tumour #GI tract tumor #GI tract tumour #Neoplasm of the GI tract\n", + " definition of HP:0007378 (Neoplasm of the gastrointestinal tract)\n", + " \n", + " \n", + " Monocytopenia\n", + " definition of HP:0012312 (Monocytopenia)\n", + " \n", + " \n", + " An decreased number of circulating monocytes.\n", + " definition of HP:0012312 (Monocytopenia)\n", + " \n", + " \n", + " #Low blood monocyte number\n", + " definition of HP:0012312 (Monocytopenia)\n", + " \n", + " \n", + " Abnormal tracheal morphology\n", + " definition of HP:0002778 (Abnormal tracheal morphology)\n", + " \n", + " \n", + " A structural anomaly of the trachea.\n", + " definition of HP:0002778 (Abnormal tracheal morphology)\n", + " \n", + " \n", + " #Abnormal trachea morphology #Abnormality of the trachea\n", + " definition of HP:0002778 (Abnormal tracheal morphology)\n", + " \n", + " \n", + " EEG with generalized sharp slow waves\n", + " definition of HP:0011199 (EEG with generalized sharp slow waves)\n", + " \n", + " \n", + " EEG with generalized sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.\n", + " definition of HP:0011199 (EEG with generalized sharp slow waves)\n", + " \n", + " \n", + " #EEG with generalised sharp slow waves\n", + " definition of HP:0011199 (EEG with generalized sharp slow waves)\n", + " \n", + " \n", + " Focal impaired awareness cognitive seizure\n", + " definition of HP:0032756 (Focal impaired awareness cognitive seizure)\n", + " \n", + " \n", + " A focal cognitive seizure in which awareness is partially or fully impaired at some point during the seizure.\n", + " definition of HP:0032756 (Focal impaired awareness cognitive seizure)\n", + " \n", + " \n", + " Frontal upsweep of hair\n", + " definition of HP:0002236 (Frontal upsweep of hair)\n", + " \n", + " \n", + " Upward and/or sideward growth of anterior hair.\n", + " definition of HP:0002236 (Frontal upsweep of hair)\n", + " \n", + " \n", + " #Cowlick #Frontal Cowlick #Frontal upsweep of hair #Upswept frontal hair\n", + " definition of HP:0002236 (Frontal upsweep of hair)\n", + " \n", + " \n", + " Bone marrow eosinophilia\n", + " definition of HP:0034955 (Bone marrow eosinophilia)\n", + " \n", + " \n", + " Count of eosinophils in the bone marrow above the upper limit of normal.\n", + " definition of HP:0034955 (Bone marrow eosinophilia)\n", + " \n", + " \n", + " #Eosinophils increased in bone marrow\n", + " definition of HP:0034955 (Bone marrow eosinophilia)\n", + " \n", + " \n", + " Hypoplasia of eyelid\n", + " definition of HP:0430009 (Hypoplasia of eyelid)\n", + " \n", + " \n", + " Developmental hypoplasia of the eyelid.\n", + " definition of HP:0430009 (Hypoplasia of eyelid)\n", + " \n", + " \n", + " #Decreased size of eyelid #Hypoplasia of the eyelid #Hypoplastic eyelid #Underdevelopment of eyelid\n", + " definition of HP:0430009 (Hypoplasia of eyelid)\n", + " \n", + " \n", + " Cutaneous T-cell lymphoma\n", + " definition of HP:0012192 (Cutaneous T-cell lymphoma)\n", + " \n", + " \n", + " A type of T-cell lymphoma that exhibits malignant infiltration of the skin.\n", + " definition of HP:0012192 (Cutaneous T-cell lymphoma)\n", + " \n", + " \n", + " Branch retinal artery occlusion\n", + " definition of HP:0020161 (Branch retinal artery occlusion)\n", + " \n", + " \n", + " Blockage of a branch of the retinal artery. This can cause loss of a section of visual field.\n", + " definition of HP:0020161 (Branch retinal artery occlusion)\n", + " \n", + " \n", + " Thick lower lip vermilion\n", + " definition of HP:0000179 (Thick lower lip vermilion)\n", + " \n", + " \n", + " Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective).\n", + " definition of HP:0000179 (Thick lower lip vermilion)\n", + " \n", + " \n", + " #Full lower lip vermilion #Increased height of lower lip vermilion #Increased volume of lower lip #Increased volume of lower lip vermilion #Plump lower lip #Prominent lower lip #Thick vermilion border of lower lip\n", + " definition of HP:0000179 (Thick lower lip vermilion)\n", + " \n", + " \n", + " Bifid ureter\n", + " definition of HP:0030037 (Bifid ureter)\n", + " \n", + " \n", + " Incomplete duplication of the ureter.\n", + " definition of HP:0030037 (Bifid ureter)\n", + " \n", + " \n", + " Spindle-shaped finger\n", + " definition of HP:0031092 (Spindle-shaped finger)\n", + " \n", + " \n", + " Swelling of the hand at the knuckles, that gives the fingers a spindle shape (i.e., a round stick with tapered end and a broader base).\n", + " definition of HP:0031092 (Spindle-shaped finger)\n", + " \n", + " \n", + " Broad fingertip\n", + " definition of HP:0011300 (Broad fingertip)\n", + " \n", + " \n", + " Increased width of the distal segment of a finger.\n", + " definition of HP:0011300 (Broad fingertip)\n", + " \n", + " \n", + " #Broad fingertip #Broad fingertips\n", + " definition of HP:0011300 (Broad fingertip)\n", + " \n", + " \n", + " Abnormal nail growth\n", + " definition of HP:0030807 (Abnormal nail growth)\n", + " \n", + " \n", + " Nail whose growth pattern or speed deviates from normal.\n", + " definition of HP:0030807 (Abnormal nail growth)\n", + " \n", + " \n", + " Moderate receptive language delay\n", + " definition of HP:0011351 (Moderate receptive language delay)\n", + " \n", + " \n", + " A moderate delay in the acquisition of the ability to understand the speech of others.\n", + " definition of HP:0011351 (Moderate receptive language delay)\n", + " \n", + " \n", + " Irregular epiphysis of the proximal phalanx of the 3rd toe\n", + " definition of HP:0100162 (Irregular epiphysis of the proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Irregular end part of the innermost bone of the 3rd toe\n", + " definition of HP:0100162 (Irregular epiphysis of the proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Bracket epiphysis of the proximal phalanx of the 4th toe\n", + " definition of HP:0100192 (Bracket epiphysis of the proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " #Bracket shaped end part of the innermost bone of 4th toe\n", + " definition of HP:0100192 (Bracket epiphysis of the proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " Upper eyelid entropion\n", + " definition of HP:0025607 (Upper eyelid entropion)\n", + " \n", + " \n", + " An inward turning (inversion) of the margin of the upper eyelid.\n", + " definition of HP:0025607 (Upper eyelid entropion)\n", + " \n", + " \n", + " Orthotopic os odontoideum\n", + " definition of HP:0025375 (Orthotopic os odontoideum)\n", + " \n", + " \n", + " Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process.With dystopic os odontoideum, the ossicle is located near the basion or is fused with the clivus.\n", + " definition of HP:0025375 (Orthotopic os odontoideum)\n", + " \n", + " \n", + " Premature arteriosclerosis\n", + " definition of HP:0005177 (Premature arteriosclerosis)\n", + " \n", + " \n", + " Arteriosclerosis occurring at an age that is younger than usual.\n", + " definition of HP:0005177 (Premature arteriosclerosis)\n", + " \n", + " \n", + " Delayed eruption of primary teeth\n", + " definition of HP:0000680 (Delayed eruption of primary teeth)\n", + " \n", + " \n", + " Delayed tooth eruption affecting the primary dentition.\n", + " definition of HP:0000680 (Delayed eruption of primary teeth)\n", + " \n", + " \n", + " #Delayed eruption of baby teeth #Delayed eruption of deciduous teeth #Delayed eruption of milk teeth #Delayed primary teeth eruption #Late eruption of baby teeth #Late eruption of milk teeth #Late eruption of primary teeth\n", + " definition of HP:0000680 (Delayed eruption of primary teeth)\n", + " \n", + " \n", + " Abnormal central response of multifocal electroretinogram\n", + " definition of HP:0030488 (Abnormal central response of multifocal electroretinogram)\n", + " \n", + " \n", + " Pituitary calcification\n", + " definition of HP:0010513 (Pituitary calcification)\n", + " \n", + " \n", + " Deposition of calcium salts in the pituitary gland.\n", + " definition of HP:0010513 (Pituitary calcification)\n", + " \n", + " \n", + " Episodic respiratory distress\n", + " definition of HP:0004885 (Episodic respiratory distress)\n", + " \n", + " \n", + " #Episodic difficulty breathing #respiratory distress, episodic\n", + " definition of HP:0004885 (Episodic respiratory distress)\n", + " \n", + " \n", + " Abnormal circulating antimullerian hormone concentration\n", + " definition of HP:0031101 (Abnormal circulating antimullerian hormone concentration)\n", + " \n", + " \n", + " Any deviation from the normal range of the antimullerian hormone, a peptide produced by the granulosa cells of follicles. Anti-Mullerian hormone (AMH), also known as Mullerian inhibiting substance, is produced by the granulosa cells of small antral follicles of the ovary. AMH has an inhibiting role in the ovary, contributing to follicular arrest. AMH levels in women are low until the age of 8, rise rapidly until puberty and decline steadily from the age of 25 until menopause, when AMH production ceases.\n", + " definition of HP:0031101 (Abnormal circulating antimullerian hormone concentration)\n", + " \n", + " \n", + " #Abnormal antimullerian hormone level\n", + " definition of HP:0031101 (Abnormal circulating antimullerian hormone concentration)\n", + " \n", + " \n", + " Dilated third ventricle\n", + " definition of HP:0007082 (Dilated third ventricle)\n", + " \n", + " \n", + " An increase in size of the third ventricle.\n", + " definition of HP:0007082 (Dilated third ventricle)\n", + " \n", + " \n", + " Nummular keratitis\n", + " definition of HP:6000912 (Nummular keratitis)\n", + " \n", + " \n", + " Nummular keratitis consists of multiple scattered small round anterior corneal superficial stromal infiltrates.\n", + " definition of HP:6000912 (Nummular keratitis)\n", + " \n", + " \n", + " Underdeveloped stem of antihelix\n", + " definition of HP:0011242 (Underdeveloped stem of antihelix)\n", + " \n", + " \n", + " Decreased protrusion of the antihelical ridge, proximal to its bifurcation, relative to the prominence of a normal helix.\n", + " definition of HP:0011242 (Underdeveloped stem of antihelix)\n", + " \n", + " \n", + " #Antihelix, stem, underdeveloped\n", + " definition of HP:0011242 (Underdeveloped stem of antihelix)\n", + " \n", + " \n", + " Elevated urinary porphyrin level\n", + " definition of HP:6000535 (Elevated urinary porphyrin level)\n", + " \n", + " \n", + " The amount of a porphyrin compound in the urine, normalized for urine concentration, is above the upper limit of normal. Porphrins are natural pigments containing a fundamental skeleton of four pyrrole nuclei united through the alpha-positions by four methine groups to form a macrocyclic structure. Porpyrins giove rise to heme and combalamine.\n", + " definition of HP:6000535 (Elevated urinary porphyrin level)\n", + " \n", + " \n", + " Micronodular cirrhosis\n", + " definition of HP:0001413 (Micronodular cirrhosis)\n", + " \n", + " \n", + " A type of cirrhosis characterized by the presence of small regenerative nodules.\n", + " definition of HP:0001413 (Micronodular cirrhosis)\n", + " \n", + " \n", + " Prominent U wave\n", + " definition of HP:0025072 (Prominent U wave)\n", + " \n", + " \n", + " Increased amplitude of the U wave, defined as an amplitude greater than 1-2mm or 25 percent of the height of the T wave.\n", + " definition of HP:0025072 (Prominent U wave)\n", + " \n", + " \n", + " #Increased U wave amplitude\n", + " definition of HP:0025072 (Prominent U wave)\n", + " \n", + " \n", + " Contracture of the tarsometatarsal joint of the hallux\n", + " definition of HP:0010213 (Contracture of the tarsometatarsal joint of the hallux)\n", + " \n", + " \n", + " Chronic loss of joint motion in the tarsometatarsal joint of the hallux due to structural changes in non-bony tissue. The tarsometatarsal joints of the feet are also called Lisfranc's joints.\n", + " definition of HP:0010213 (Contracture of the tarsometatarsal joint of the hallux)\n", + " \n", + " \n", + " Benign muscle neoplasm\n", + " definition of HP:0031460 (Benign muscle neoplasm)\n", + " \n", + " \n", + " A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue [NCIT:C4882].\n", + " definition of HP:0031460 (Benign muscle neoplasm)\n", + " \n", + " \n", + " Reduced beta-hexosaminidase A activity\n", + " definition of HP:0025754 (Reduced beta-hexosaminidase A activity)\n", + " \n", + " \n", + " The concentration or activity of beta hexosaminidase A in the blood circulation is below the lower limit of normal.\n", + " definition of HP:0025754 (Reduced beta-hexosaminidase A activity)\n", + " \n", + " \n", + " #Hexosaminidase A deficiency\n", + " definition of HP:0025754 (Reduced beta-hexosaminidase A activity)\n", + " \n", + " \n", + " White matter globoid cells\n", + " definition of HP:6000892 (White matter globoid cells)\n", + " \n", + " \n", + " Multinucleated phagocytes in the cerebral white matter, typically are 10-15 micrometers in diameter, that contain fatty filamentous inclusions that stain positive for periodic acid-Schiff (PAS), which may be phagocytized myelin, as these cells are often found in proximity to sites where demyelination is prominent. Globoid cells have been to thought to originate from CNS resident microglia and/or infiltrating peripheral macrophages.\n", + " definition of HP:6000892 (White matter globoid cells)\n", + " \n", + " \n", + " 11 pairs of ribs\n", + " definition of HP:0000878 (11 pairs of ribs)\n", + " \n", + " \n", + " Presence of only 11 pairs of ribs.\n", + " definition of HP:0000878 (11 pairs of ribs)\n", + " \n", + " \n", + " #11 pairs of ribs\n", + " definition of HP:0000878 (11 pairs of ribs)\n", + " \n", + " \n", + " Cavum septum pellucidum\n", + " definition of HP:0002389 (Cavum septum pellucidum)\n", + " \n", + " \n", + " If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space.\n", + " definition of HP:0002389 (Cavum septum pellucidum)\n", + " \n", + " \n", + " #Large cavum septi pellucidi #Persistent cavum septum pellucidum #Widened cavum septum pellucidum\n", + " definition of HP:0002389 (Cavum septum pellucidum)\n", + " \n", + " \n", + " Scotoma\n", + " definition of HP:0000575 (Scotoma)\n", + " \n", + " \n", + " A regional and pathological increase of the light detection threshold in any region of the visual field surrounded by a field of normal or relatively well-preserved vision.\n", + " definition of HP:0000575 (Scotoma)\n", + " \n", + " \n", + " Neoplasm of the large intestine\n", + " definition of HP:0100834 (Neoplasm of the large intestine)\n", + " \n", + " \n", + " The presence of a neoplasm of the large intestine.\n", + " definition of HP:0100834 (Neoplasm of the large intestine)\n", + " \n", + " \n", + " #Large intestine tumor #Large intestine tumour\n", + " definition of HP:0100834 (Neoplasm of the large intestine)\n", + " \n", + " \n", + " Embryonal neoplasm\n", + " definition of HP:0002898 (Embryonal neoplasm)\n", + " \n", + " \n", + " #Embryonal neoplasia #Embryonal tumors #Embryonal tumours\n", + " definition of HP:0002898 (Embryonal neoplasm)\n", + " \n", + " \n", + " Abnormal erythrocyte adenosine triphosphate concentration\n", + " definition of HP:4000183 (Abnormal erythrocyte adenosine triphosphate concentration)\n", + " \n", + " \n", + " Concentration of adenosine triphosphate (ATP) in red blood cells (erythrocytes) outside of the normal range.\n", + " definition of HP:4000183 (Abnormal erythrocyte adenosine triphosphate concentration)\n", + " \n", + " \n", + " Intellectual disability, progressive\n", + " definition of HP:0006887 (Intellectual disability, progressive)\n", + " \n", + " \n", + " The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time.\n", + " definition of HP:0006887 (Intellectual disability, progressive)\n", + " \n", + " \n", + " #Intellectual disability, progressive #Mental retardation, progressive #Progressive mental retardation\n", + " definition of HP:0006887 (Intellectual disability, progressive)\n", + " \n", + " \n", + " Delayed Echolalia\n", + " definition of HP:5200071 (Delayed Echolalia)\n", + " \n", + " \n", + " Repetition of borrowed words or phrases outside of the context in which they were originally heard. E.g., scripting from TV shows or movies.\n", + " definition of HP:5200071 (Delayed Echolalia)\n", + " \n", + " \n", + " Triangular shaped phalanges of the toes\n", + " definition of HP:0010180 (Triangular shaped phalanges of the toes)\n", + " \n", + " \n", + " #Triangular shaped toe bones\n", + " definition of HP:0010180 (Triangular shaped phalanges of the toes)\n", + " \n", + " \n", + " Hepatic steatosis\n", + " definition of HP:0001397 (Hepatic steatosis)\n", + " \n", + " \n", + " Steatosis is a term used to denote lipid accumulation within hepatocytes.\n", + " definition of HP:0001397 (Hepatic steatosis)\n", + " \n", + " \n", + " #Fatty infiltration of liver #Fatty liver #Liver steatosis #Steatosis\n", + " definition of HP:0001397 (Hepatic steatosis)\n", + " \n", + " \n", + " Lumbar spondylosis\n", + " definition of HP:0034931 (Lumbar spondylosis)\n", + " \n", + " \n", + " Arthrosis, i.e., of degenerative joint disease, affecting the lumbar vertebral column.\n", + " definition of HP:0034931 (Lumbar spondylosis)\n", + " \n", + " \n", + " #Lumbar spine osteoarthritis\n", + " definition of HP:0034931 (Lumbar spondylosis)\n", + " \n", + " \n", + " Adrenocortical abnormality\n", + " definition of HP:0000849 (Adrenocortical abnormality)\n", + " \n", + " \n", + " Waddling gait\n", + " definition of HP:0002515 (Waddling gait)\n", + " \n", + " \n", + " Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck.\n", + " definition of HP:0002515 (Waddling gait)\n", + " \n", + " \n", + " #Waddling gait #Waddling walk\n", + " definition of HP:0002515 (Waddling gait)\n", + " \n", + " \n", + " Elevated circulating neuron-specific enolase concentration\n", + " definition of HP:4000189 (Elevated circulating neuron-specific enolase concentration)\n", + " \n", + " \n", + " Concentration of neuron-specific enolase above the upper limit of normal in the blood circulation.\n", + " definition of HP:4000189 (Elevated circulating neuron-specific enolase concentration)\n", + " \n", + " \n", + " #Neuron-specific enolase high in blood\n", + " definition of HP:4000189 (Elevated circulating neuron-specific enolase concentration)\n", + " \n", + " \n", + " Patchy sclerosis of the proximal phalanx of the 4th toe\n", + " definition of HP:0100465 (Patchy sclerosis of the proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " Uneven increase in bone density of the proximal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.\n", + " definition of HP:0100465 (Patchy sclerosis of the proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " #Uneven increase in bone density in the innermost bone of the 4th toe\n", + " definition of HP:0100465 (Patchy sclerosis of the proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " Back pain\n", + " definition of HP:0003418 (Back pain)\n", + " \n", + " \n", + " An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back.\n", + " definition of HP:0003418 (Back pain)\n", + " \n", + " \n", + " #Back pain\n", + " definition of HP:0003418 (Back pain)\n", + " \n", + " \n", + " Abnormal light- and dark-adapted electroretinogram\n", + " definition of HP:0008323 (Abnormal light- and dark-adapted electroretinogram)\n", + " \n", + " \n", + " An abnormality of the combined rod-and-cone response on electroretinogram.\n", + " definition of HP:0008323 (Abnormal light- and dark-adapted electroretinogram)\n", + " \n", + " \n", + " #Abnormal rod and cone electroretinogram\n", + " definition of HP:0008323 (Abnormal light- and dark-adapted electroretinogram)\n", + " \n", + " \n", + " Abnormal morphology of the olfactory bulb\n", + " definition of HP:0040327 (Abnormal morphology of the olfactory bulb)\n", + " \n", + " \n", + " An abnormal morphology of the olfactory bulb (bulbus olfactorius), which is involved in olfaction, i.e. the sense of smell.\n", + " definition of HP:0040327 (Abnormal morphology of the olfactory bulb)\n", + " \n", + " \n", + " Skeletal muscle autophagosome accumulation\n", + " definition of HP:0025717 (Skeletal muscle autophagosome accumulation)\n", + " \n", + " \n", + " Abnormal accumulation of autophagosomes in skeletal muscle tissue.\n", + " definition of HP:0025717 (Skeletal muscle autophagosome accumulation)\n", + " \n", + " \n", + " #Autophagic material in muscle biopsy\n", + " definition of HP:0025717 (Skeletal muscle autophagosome accumulation)\n", + " \n", + " \n", + " Reduced breast milk zinc concentration\n", + " definition of HP:6000700 (Reduced breast milk zinc concentration)\n", + " \n", + " \n", + " The concentration of zinc in breast milk is below the lower limit of normal.\n", + " definition of HP:6000700 (Reduced breast milk zinc concentration)\n", + " \n", + " \n", + " Abnormal CSF pyruvate family amino acid concentration\n", + " definition of HP:0500231 (Abnormal CSF pyruvate family amino acid concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of pyruvate-family amino acids in the cerebrospinal fluid.\n", + " definition of HP:0500231 (Abnormal CSF pyruvate family amino acid concentration)\n", + " \n", + " \n", + " #Abnormal pyruvate-family amino acid levels in cerebrospinal fluid\n", + " definition of HP:0500231 (Abnormal CSF pyruvate family amino acid concentration)\n", + " \n", + " \n", + " Keratosis pilaris\n", + " definition of HP:0032152 (Keratosis pilaris)\n", + " \n", + " \n", + " An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs.\n", + " definition of HP:0032152 (Keratosis pilaris)\n", + " \n", + " \n", + " #Carpet tack sign #Chicken skin #Follicular keratosis #Follicular keratotic plug #Follicular plugging #Hyperkeratosis pilaris #Lichen pilaris\n", + " definition of HP:0032152 (Keratosis pilaris)\n", + " \n", + " \n", + " EMG: incremental response of compound muscle action potential to repetitive nerve stimulation\n", + " definition of HP:0030206 (EMG: incremental response of compound muscle action potential to repetitive nerve stimulation)\n", + " \n", + " \n", + " A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to an abnormal increase in the amplitude during the course of the investigation.\n", + " definition of HP:0030206 (EMG: incremental response of compound muscle action potential to repetitive nerve stimulation)\n", + " \n", + " \n", + " Hyaline membranes\n", + " definition of HP:0033363 (Hyaline membranes)\n", + " \n", + " \n", + " Hyaline membranes are homogeneous eosinophilic material composed of cellular debris, plasma proteins, and surfactant plastered against alveolar ducts and alveolar walls. The hyaline membranes are deposited along the walls of the alveoli, where gas exchange typically occurs, thereby making gas exchange difficult.\n", + " definition of HP:0033363 (Hyaline membranes)\n", + " \n", + " \n", + " Prelingual sensorineural hearing impairment\n", + " definition of HP:0000399 (Prelingual sensorineural hearing impairment)\n", + " \n", + " \n", + " A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech.\n", + " definition of HP:0000399 (Prelingual sensorineural hearing impairment)\n", + " \n", + " \n", + " #Deafness, sensorineural, prelingual #Prelingual sensorineural deafness\n", + " definition of HP:0000399 (Prelingual sensorineural hearing impairment)\n", + " \n", + " \n", + " Diffuse peripheral demyelination\n", + " definition of HP:0006881 (Diffuse peripheral demyelination)\n", + " \n", + " \n", + " A diffuse loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.\n", + " definition of HP:0006881 (Diffuse peripheral demyelination)\n", + " \n", + " \n", + " Skeletal muscle steatosis\n", + " definition of HP:0040291 (Skeletal muscle steatosis)\n", + " \n", + " \n", + " #Steatosis of skeletal muscle #Steatosis of skeletal muscles\n", + " definition of HP:0040291 (Skeletal muscle steatosis)\n", + " \n", + " \n", + " Hyphema\n", + " definition of HP:0011886 (Hyphema)\n", + " \n", + " \n", + " Bleeding in the anterior chamber of the eye.\n", + " definition of HP:0011886 (Hyphema)\n", + " \n", + " \n", + " Dyschromatopsia\n", + " definition of HP:0007641 (Dyschromatopsia)\n", + " \n", + " \n", + " A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments.\n", + " definition of HP:0007641 (Dyschromatopsia)\n", + " \n", + " \n", + " #Color blindness #Colour blindness\n", + " definition of HP:0007641 (Dyschromatopsia)\n", + " \n", + " \n", + " Status epilepticus without prominent motor symptoms\n", + " definition of HP:0031475 (Status epilepticus without prominent motor symptoms)\n", + " \n", + " \n", + " There is inconclusive evidence to precisely define the duration of the seizure; however, based on current evidence an operational threshold of 10 minutes is appropriate as beyond this a seizure is likely to be more prolonged. The individual may or may not be aware or in coma.\n", + " definition of HP:0031475 (Status epilepticus without prominent motor symptoms)\n", + " \n", + " \n", + " #Nonconvulsive status epilepticus\n", + " definition of HP:0031475 (Status epilepticus without prominent motor symptoms)\n", + " \n", + " \n", + " Limited knee flexion/extension\n", + " definition of HP:0005085 (Limited knee flexion/extension)\n", + " \n", + " \n", + " A limited ability of the knee joint to perform extension and flexion.\n", + " definition of HP:0005085 (Limited knee flexion/extension)\n", + " \n", + " \n", + " Compensatory face turn to the right\n", + " definition of HP:0031707 (Compensatory face turn to the right)\n", + " \n", + " \n", + " A tendency to turn the face to the right to compensate for a limitation of eye movement.\n", + " definition of HP:0031707 (Compensatory face turn to the right)\n", + " \n", + " \n", + " Coronary cameral fistula to right ventricle\n", + " definition of HP:0031561 (Coronary cameral fistula to right ventricle)\n", + " \n", + " \n", + " An abnormal communication between the terminus of a coronary artery, bypassing the myocardial capillary bed and entering the right ventricle.\n", + " definition of HP:0031561 (Coronary cameral fistula to right ventricle)\n", + " \n", + " \n", + " Irritability\n", + " definition of HP:0000737 (Irritability)\n", + " \n", + " \n", + " A proneness to anger, i.e., a tendency to become easily bothered or annoyed.\n", + " definition of HP:0000737 (Irritability)\n", + " \n", + " \n", + " #Irritability #Irritable #Irritable mood\n", + " definition of HP:0000737 (Irritability)\n", + " \n", + " \n", + " Long foot\n", + " definition of HP:0001833 (Long foot)\n", + " \n", + " \n", + " Increased back to front length of the foot.\n", + " definition of HP:0001833 (Long foot)\n", + " \n", + " \n", + " #Disproportionately large feet #large feet #long feet #Long foot\n", + " definition of HP:0001833 (Long foot)\n", + " \n", + " \n", + " Ventricular preexcitation\n", + " definition of HP:0004309 (Ventricular preexcitation)\n", + " \n", + " \n", + " An abnormality in which the cardiac ventricles depolarize too early as a result of an abnormality of cardiac conduction pathways such as an accessory pathway.\n", + " definition of HP:0004309 (Ventricular preexcitation)\n", + " \n", + " \n", + " #Pre-excitation syndrome #Preexcitation #Ventricular pre-excitation\n", + " definition of HP:0004309 (Ventricular preexcitation)\n", + " \n", + " \n", + " Myopic astigmatism\n", + " definition of HP:0500041 (Myopic astigmatism)\n", + " \n", + " \n", + " A condition where one or both of the two principal meridians focus in the front of the retina when the eye is at rest.\n", + " definition of HP:0500041 (Myopic astigmatism)\n", + " \n", + " \n", + " Retinal arterial occlusion\n", + " definition of HP:0025326 (Retinal arterial occlusion)\n", + " \n", + " \n", + " Blockage of the retinal artery, generally associated with interruption of blood flow and oxygen delivery to the retina.\n", + " definition of HP:0025326 (Retinal arterial occlusion)\n", + " \n", + " \n", + " #Retinal artery occlusion\n", + " definition of HP:0025326 (Retinal arterial occlusion)\n", + " \n", + " \n", + " Fractured distal phalanx of manus\n", + " definition of HP:0041174 (Fractured distal phalanx of manus)\n", + " \n", + " \n", + " A partial or complete breakage of the distal phalanx of manus.\n", + " definition of HP:0041174 (Fractured distal phalanx of manus)\n", + " \n", + " \n", + " #bone distal phalanx of manus\n", + " definition of HP:0041174 (Fractured distal phalanx of manus)\n", + " \n", + " \n", + " Respiratory paralysis\n", + " definition of HP:0002203 (Respiratory paralysis)\n", + " \n", + " \n", + " Inability to move the muscles of respiration.\n", + " definition of HP:0002203 (Respiratory paralysis)\n", + " \n", + " \n", + " Elevated circulating plasminogen activator inhibitor 1 activity\n", + " definition of HP:0430125 (Elevated circulating plasminogen activator inhibitor 1 activity)\n", + " \n", + " \n", + " The activity or concentration of plasminogen activator inhibitor-1 in the blood circulation is above the upper limit of normal.\n", + " definition of HP:0430125 (Elevated circulating plasminogen activator inhibitor 1 activity)\n", + " \n", + " \n", + " Abnormal transferrin saturation\n", + " definition of HP:0040135 (Abnormal transferrin saturation)\n", + " \n", + " \n", + " Any abnormality in the serum transferrin saturation, which is calculated by dividing the serum iron level by total iron-binding capacity.\n", + " definition of HP:0040135 (Abnormal transferrin saturation)\n", + " \n", + " \n", + " Anti-myelin-associated glycoprotein antibody positivity\n", + " definition of HP:0025629 (Anti-myelin-associated glycoprotein antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against myelin-associated glycoprotein (MAG).\n", + " definition of HP:0025629 (Anti-myelin-associated glycoprotein antibody positivity)\n", + " \n", + " \n", + " First degree atrioventricular block\n", + " definition of HP:0011705 (First degree atrioventricular block)\n", + " \n", + " \n", + " Delay of conduction through the atrioventricular node, which is manifested as prolongation of the PR interval in the electrocardiogram (EKG). All atrial impulses reach the ventricles.\n", + " definition of HP:0011705 (First degree atrioventricular block)\n", + " \n", + " \n", + " Cortical peritubular capillaritis\n", + " definition of HP:0033862 (Cortical peritubular capillaritis)\n", + " \n", + " \n", + " Inflammation of the peritubular capillaries in the cortex of the kidney characterized by Inflammatory cells in over 10 percent of the interstitial capillaries in the cortex with at least some capillaries having three or more luminal cells.\n", + " definition of HP:0033862 (Cortical peritubular capillaritis)\n", + " \n", + " \n", + " Intracerebral periventricular calcifications\n", + " definition of HP:0007229 (Intracerebral periventricular calcifications)\n", + " \n", + " \n", + " The presence of calcium deposition in the cerebral white matter surrounding the cerebral ventricles.\n", + " definition of HP:0007229 (Intracerebral periventricular calcifications)\n", + " \n", + " \n", + " Femoral bowing\n", + " definition of HP:0002980 (Femoral bowing)\n", + " \n", + " \n", + " Bowing (abnormal curvature) of the femur.\n", + " definition of HP:0002980 (Femoral bowing)\n", + " \n", + " \n", + " #Bowed femur #Bowed femura #Bowed femurs #Bowed thighbone\n", + " definition of HP:0002980 (Femoral bowing)\n", + " \n", + " \n", + " Snowball lesion of corpus callosum\n", + " definition of HP:0031948 (Snowball lesion of corpus callosum)\n", + " \n", + " \n", + " Centrally located corpus callosum hyperintensities said to resemble snowballs upon magnetic resonance imaging (with T2 or Sagittal fluid attenuated inversion recovery [FLAIR] sequences). The central location in the callosum makes them pathognomonic for Susac syndrome.\n", + " definition of HP:0031948 (Snowball lesion of corpus callosum)\n", + " \n", + " \n", + " Focal impaired awareness verbal automatism seizure\n", + " definition of HP:0032924 (Focal impaired awareness verbal automatism seizure)\n", + " \n", + " \n", + " A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by the production of single or repetitive words, phrases, or brief sentences at onset.\n", + " definition of HP:0032924 (Focal impaired awareness verbal automatism seizure)\n", + " \n", + " \n", + " Furcate cord insertion\n", + " definition of HP:0030660 (Furcate cord insertion)\n", + " \n", + " \n", + " Branching of the umbilical cord before its insertion into the placenta.\n", + " definition of HP:0030660 (Furcate cord insertion)\n", + " \n", + " \n", + " Short NREM sleep\n", + " definition of HP:5200362 (Short NREM sleep)\n", + " \n", + " \n", + " Decreased urinary norepinephrine level\n", + " definition of HP:0034875 (Decreased urinary norepinephrine level)\n", + " \n", + " \n", + " The concentration of norepinephrine in the urine, normalized for urine concentration, is below the lower limit of normal.\n", + " definition of HP:0034875 (Decreased urinary norepinephrine level)\n", + " \n", + " \n", + " Generalized hyperreflexia\n", + " definition of HP:0007034 (Generalized hyperreflexia)\n", + " \n", + " \n", + " #Generalised hyperreflexia\n", + " definition of HP:0007034 (Generalized hyperreflexia)\n", + " \n", + " \n", + " Abnormal nasal hair morphology\n", + " definition of HP:0040057 (Abnormal nasal hair morphology)\n", + " \n", + " \n", + " #Abnormality of nasal hair #Abnormality of nose hair\n", + " definition of HP:0040057 (Abnormal nasal hair morphology)\n", + " \n", + " \n", + " Short lower limbs\n", + " definition of HP:0006385 (Short lower limbs)\n", + " \n", + " \n", + " Shortening of the legs related to developmental hypoplasia of the bones of the leg.\n", + " definition of HP:0006385 (Short lower limbs)\n", + " \n", + " \n", + " #Short legs #Short lower limbs\n", + " definition of HP:0006385 (Short lower limbs)\n", + " \n", + " \n", + " Renal neurofibroma\n", + " definition of HP:0034765 (Renal neurofibroma)\n", + " \n", + " \n", + " A neurofibroma (benign peripheral nerve sheath tumor) localized in the kidney.\n", + " definition of HP:0034765 (Renal neurofibroma)\n", + " \n", + " \n", + " Sparse anterior scalp hair\n", + " definition of HP:0004768 (Sparse anterior scalp hair)\n", + " \n", + " \n", + " Decreased number of head hairs per unit area on the anterior region of the scalp.\n", + " definition of HP:0004768 (Sparse anterior scalp hair)\n", + " \n", + " \n", + " #Sparse scalp hair at front of head #Thin scalp hair at front of head\n", + " definition of HP:0004768 (Sparse anterior scalp hair)\n", + " \n", + " \n", + " Hyperphosphaturia\n", + " definition of HP:0003109 (Hyperphosphaturia)\n", + " \n", + " \n", + " An increased excretion of phosphates in the urine.\n", + " definition of HP:0003109 (Hyperphosphaturia)\n", + " \n", + " \n", + " #High urine phosphate levels #Phosphaturia\n", + " definition of HP:0003109 (Hyperphosphaturia)\n", + " \n", + " \n", + " Inappropriate laughter\n", + " definition of HP:0000748 (Inappropriate laughter)\n", + " \n", + " \n", + " Laughing that may be excessive and/or inappropriate in context (e.g., laughing at a funeral while others are crying).\n", + " definition of HP:0000748 (Inappropriate laughter)\n", + " \n", + " \n", + " #Inappropriate laughter\n", + " definition of HP:0000748 (Inappropriate laughter)\n", + " \n", + " \n", + " Abnormality of the knee\n", + " definition of HP:0002815 (Abnormality of the knee)\n", + " \n", + " \n", + " An abnormality of the knee joint or surrounding structures.\n", + " definition of HP:0002815 (Abnormality of the knee)\n", + " \n", + " \n", + " #Abnormality of the knee\n", + " definition of HP:0002815 (Abnormality of the knee)\n", + " \n", + " \n", + " Increased anterior vertebral height\n", + " definition of HP:0004581 (Increased anterior vertebral height)\n", + " \n", + " \n", + " Diffuse cerebral calcification\n", + " definition of HP:0005849 (Diffuse cerebral calcification)\n", + " \n", + " \n", + " Generalized deposition of calcium salts within the cerebrum.\n", + " definition of HP:0005849 (Diffuse cerebral calcification)\n", + " \n", + " \n", + " Halitosis\n", + " definition of HP:0100812 (Halitosis)\n", + " \n", + " \n", + " Noticeably unpleasant odors exhaled in breathing.\n", + " definition of HP:0100812 (Halitosis)\n", + " \n", + " \n", + " #Bad breath #Foetor ex ore\n", + " definition of HP:0100812 (Halitosis)\n", + " \n", + " \n", + " Hyperpolarized transepithelial nasal potential difference\n", + " definition of HP:6000100 (Hyperpolarized transepithelial nasal potential difference)\n", + " \n", + " \n", + " Increased (more negative) voltage across the nasal epithelium.\n", + " definition of HP:6000100 (Hyperpolarized transepithelial nasal potential difference)\n", + " \n", + " \n", + " Impaired ristocetin-induced platelet aggregation\n", + " definition of HP:0011871 (Impaired ristocetin-induced platelet aggregation)\n", + " \n", + " \n", + " Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin.\n", + " definition of HP:0011871 (Impaired ristocetin-induced platelet aggregation)\n", + " \n", + " \n", + " Peripheral tractional retinal detachment\n", + " definition of HP:0007643 (Peripheral tractional retinal detachment)\n", + " \n", + " \n", + " Tractional retinal detachment at the periphery of the retina.\n", + " definition of HP:0007643 (Peripheral tractional retinal detachment)\n", + " \n", + " \n", + " #Peripheral traction retinal detachment #Tractional retinal detachment at the periphery of the retina\n", + " definition of HP:0007643 (Peripheral tractional retinal detachment)\n", + " \n", + " \n", + " Focal impaired awareness cognitive seizure with dysgraphia/agraphia\n", + " definition of HP:0032803 (Focal impaired awareness cognitive seizure with dysgraphia/agraphia)\n", + " \n", + " \n", + " A focal cognitive seizure with dysgraphia / agraphia characterized by impairment of awareness at some point during the seizure.\n", + " definition of HP:0032803 (Focal impaired awareness cognitive seizure with dysgraphia/agraphia)\n", + " \n", + " \n", + " Pretibial hyperpigmentation\n", + " definition of HP:0034517 (Pretibial hyperpigmentation)\n", + " \n", + " \n", + " Darkening of the area of skin that overlies the shin.\n", + " definition of HP:0034517 (Pretibial hyperpigmentation)\n", + " \n", + " \n", + " Decreased platelet P2Y12 receptor\n", + " definition of HP:0011882 (Decreased platelet P2Y12 receptor)\n", + " \n", + " \n", + " Decreased cell membrane concentration of P2Y12 receptor.\n", + " definition of HP:0011882 (Decreased platelet P2Y12 receptor)\n", + " \n", + " \n", + " Pseudarthrosis of the radius\n", + " definition of HP:0003980 (Pseudarthrosis of the radius)\n", + " \n", + " \n", + " Long distal phalanx of finger\n", + " definition of HP:0012299 (Long distal phalanx of finger)\n", + " \n", + " \n", + " Increased length of the distal phalanx of finger.\n", + " definition of HP:0012299 (Long distal phalanx of finger)\n", + " \n", + " \n", + " #Long outermost bone of finger\n", + " definition of HP:0012299 (Long distal phalanx of finger)\n", + " \n", + " \n", + " Rotator cuff tear\n", + " definition of HP:0032201 (Rotator cuff tear)\n", + " \n", + " \n", + " The term rotator cuff describes the tendons connecting the infraspinatus, supraspinatus, teres minor, and subscapularis muscles to the humeral head.Traumatic tears of the rotator cuff tend to occur at the tendon-bone junction of the supraspinatus and greater tuberosity of the humerus whereas degenerative tears tend to be seen posteriorly at the junction of the supraspinatus and infraspinatu A rotator cuff tear is when one or more of these tendons tears or detaches from the humerus.\n", + " definition of HP:0032201 (Rotator cuff tear)\n", + " \n", + " \n", + " Elevated circulating methylmalonylcarnitine concentration\n", + " definition of HP:0035024 (Elevated circulating methylmalonylcarnitine concentration)\n", + " \n", + " \n", + " Concentration of methylmalonylcarnitine in the blood circulation above the upper limit of normal.\n", + " definition of HP:0035024 (Elevated circulating methylmalonylcarnitine concentration)\n", + " \n", + " \n", + " #Elevated circulating C4-DC acylcarnitine concentration #Methylmalonylcarnitine (C4-DC) high in blood\n", + " definition of HP:0035024 (Elevated circulating methylmalonylcarnitine concentration)\n", + " \n", + " \n", + " Osteolytic defects of the proximal phalanx of the 4th toe\n", + " definition of HP:0100456 (Osteolytic defects of the proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " Chronic respiratory acidosis\n", + " definition of HP:0012466 (Chronic respiratory acidosis)\n", + " \n", + " \n", + " Longstanding impairment in ventilation such that the partial pressure of carbon dioxide (PaCO2) is elevated above the upper limit of the reference range (more than 45 mm Hg), with a normal or near-normal pH secondary to renal compensation and an elevated serum bicarbonate levels (more than30 mEq/L).\n", + " definition of HP:0012466 (Chronic respiratory acidosis)\n", + " \n", + " \n", + " Irregularly shaped lymph node germinal centers\n", + " definition of HP:0020248 (Irregularly shaped lymph node germinal centers)\n", + " \n", + " \n", + " A deviation from the typically fairly round or oval form of a lymph node germinal center.\n", + " definition of HP:0020248 (Irregularly shaped lymph node germinal centers)\n", + " \n", + " \n", + " Molar tooth sign on MRI\n", + " definition of HP:0002419 (Molar tooth sign on MRI)\n", + " \n", + " \n", + " An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth.\n", + " definition of HP:0002419 (Molar tooth sign on MRI)\n", + " \n", + " \n", + " #Molar tooth sign #Molar tooth sign on brain imaging #Molar tooth sign on imaging\n", + " definition of HP:0002419 (Molar tooth sign on MRI)\n", + " \n", + " \n", + " Lacrimal punctal atresia\n", + " definition of HP:0007820 (Lacrimal punctal atresia)\n", + " \n", + " \n", + " Congenital absence or closure of the opening of the lacrimal punctum.\n", + " definition of HP:0007820 (Lacrimal punctal atresia)\n", + " \n", + " \n", + " #Atretic lacrimal puncta #Atretic lacrimal punctum\n", + " definition of HP:0007820 (Lacrimal punctal atresia)\n", + " \n", + " \n", + " Carnosinuria\n", + " definition of HP:0003167 (Carnosinuria)\n", + " \n", + " \n", + " An increased concentration of carnosine in the urine.\n", + " definition of HP:0003167 (Carnosinuria)\n", + " \n", + " \n", + " #High urine carnosine levels\n", + " definition of HP:0003167 (Carnosinuria)\n", + " \n", + " \n", + " Holoprosencephaly\n", + " definition of HP:0001360 (Holoprosencephaly)\n", + " \n", + " \n", + " Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles.\n", + " definition of HP:0001360 (Holoprosencephaly)\n", + " \n", + " \n", + " #Single brain ventricle\n", + " definition of HP:0001360 (Holoprosencephaly)\n", + " \n", + " \n", + " Meningioma\n", + " definition of HP:0002858 (Meningioma)\n", + " \n", + " \n", + " The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater.\n", + " definition of HP:0002858 (Meningioma)\n", + " \n", + " \n", + " Copper accumulation in liver\n", + " definition of HP:0025321 (Copper accumulation in liver)\n", + " \n", + " \n", + " An anomalous build up of copper (Cu) in the liver.\n", + " definition of HP:0025321 (Copper accumulation in liver)\n", + " \n", + " \n", + " #Liver copper accumulation\n", + " definition of HP:0025321 (Copper accumulation in liver)\n", + " \n", + " \n", + " Weakness of long finger extensor muscles\n", + " definition of HP:0009077 (Weakness of long finger extensor muscles)\n", + " \n", + " \n", + " Generalized papillary lesions\n", + " definition of HP:0007482 (Generalized papillary lesions)\n", + " \n", + " \n", + " #Generalised papillary lesions\n", + " definition of HP:0007482 (Generalized papillary lesions)\n", + " \n", + " \n", + " Isothenuria\n", + " definition of HP:0030036 (Isothenuria)\n", + " \n", + " \n", + " Inability of the kidneys to produce either concentrated or dilute urine.\n", + " definition of HP:0030036 (Isothenuria)\n", + " \n", + " \n", + " Oligoclonal elevation of circulating IgG\n", + " definition of HP:0032289 (Oligoclonal elevation of circulating IgG)\n", + " \n", + " \n", + " An increase in circulating immunoglobulins characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.\n", + " definition of HP:0032289 (Oligoclonal elevation of circulating IgG)\n", + " \n", + " \n", + " Duplicated collecting system\n", + " definition of HP:0000081 (Duplicated collecting system)\n", + " \n", + " \n", + " A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice.\n", + " definition of HP:0000081 (Duplicated collecting system)\n", + " \n", + " \n", + " #Double collecting system #Double urinary collecting systems on intravenous pyelography #Duplex collecting system #Duplicated renal collecting system\n", + " definition of HP:0000081 (Duplicated collecting system)\n", + " \n", + " \n", + " Labial melanotic macule\n", + " definition of HP:0032454 (Labial melanotic macule)\n", + " \n", + " \n", + " Flat, distinct, discolored area on the lip less than 1 cm wide not associated with a change in the thickness or texture.\n", + " definition of HP:0032454 (Labial melanotic macule)\n", + " \n", + " \n", + " #Labial melanotic freckle\n", + " definition of HP:0032454 (Labial melanotic macule)\n", + " \n", + " \n", + " Triangular shaped proximal phalanx of the 2nd toe\n", + " definition of HP:0010402 (Triangular shaped proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Triangular shaped innermost 2nd toe bone\n", + " definition of HP:0010402 (Triangular shaped proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger\n", + " definition of HP:0009580 (Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Absent/small innermost index finger bone #Absent/underdeveloped innermost index finger bone\n", + " definition of HP:0009580 (Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Abnormal leukocyte morphology\n", + " definition of HP:0001881 (Abnormal leukocyte morphology)\n", + " \n", + " \n", + " An abnormality of leukocytes.\n", + " definition of HP:0001881 (Abnormal leukocyte morphology)\n", + " \n", + " \n", + " #Abnormality of leukocytes\n", + " definition of HP:0001881 (Abnormal leukocyte morphology)\n", + " \n", + " \n", + " Absent earlobe\n", + " definition of HP:0000387 (Absent earlobe)\n", + " \n", + " \n", + " Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura.\n", + " definition of HP:0000387 (Absent earlobe)\n", + " \n", + " \n", + " #Absent ear lobes #Absent earlobe #Earlobe, absent #Lobeless ears #Lobule aplasia\n", + " definition of HP:0000387 (Absent earlobe)\n", + " \n", + " \n", + " Podocyte cytoskeletal condensation\n", + " definition of HP:0033492 (Podocyte cytoskeletal condensation)\n", + " \n", + " \n", + " Reorganization of podocyte cytoskeletal proteins at the glomerular basement membrane (GBM) aspect of the cell, with associated cytoplasmic electron density at the GBM aspect of the podocyte.\n", + " definition of HP:0033492 (Podocyte cytoskeletal condensation)\n", + " \n", + " \n", + " Mildly reduced left ventricular ejection fraction\n", + " definition of HP:0012663 (Mildly reduced left ventricular ejection fraction)\n", + " \n", + " \n", + " A small reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at least 50 percent, and a mild reduction is defined as 40-49 percent.\n", + " definition of HP:0012663 (Mildly reduced left ventricular ejection fraction)\n", + " \n", + " \n", + " #Mildly reduced ejection fraction\n", + " definition of HP:0012663 (Mildly reduced left ventricular ejection fraction)\n", + " \n", + " \n", + " Cortical radial artery intimal/medial amyloidosis\n", + " definition of HP:0033887 (Cortical radial artery intimal/medial amyloidosis)\n", + " \n", + " \n", + " Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular arteries of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy\n", + " definition of HP:0033887 (Cortical radial artery intimal/medial amyloidosis)\n", + " \n", + " \n", + " #Amyloidosis within interlobular arterial intima/media #Interlobular arterial intima/media amyloidosis\n", + " definition of HP:0033887 (Cortical radial artery intimal/medial amyloidosis)\n", + " \n", + " \n", + " Acute megakaryocytic leukemia\n", + " definition of HP:0006733 (Acute megakaryocytic leukemia)\n", + " \n", + " \n", + " A rare subtype of acute myeloid leukemia evolving from primitive megakaryoblasts.\n", + " definition of HP:0006733 (Acute megakaryocytic leukemia)\n", + " \n", + " \n", + " #Acute megakaryocytic leukaemia #AMegL\n", + " definition of HP:0006733 (Acute megakaryocytic leukemia)\n", + " \n", + " \n", + " Proximal tibial hypoplasia\n", + " definition of HP:0006379 (Proximal tibial hypoplasia)\n", + " \n", + " \n", + " #Proximal tibial hypopolasia\n", + " definition of HP:0006379 (Proximal tibial hypoplasia)\n", + " \n", + " \n", + " Reduced circulating aspartate aminotransferase concentration\n", + " definition of HP:0430136 (Reduced circulating aspartate aminotransferase concentration)\n", + " \n", + " \n", + " The concentration of aspartate aminotransferase (AST) in the blood circulation is below the lower limit of normal.\n", + " definition of HP:0430136 (Reduced circulating aspartate aminotransferase concentration)\n", + " \n", + " \n", + " Retinal hemorrhage\n", + " definition of HP:0000573 (Retinal hemorrhage)\n", + " \n", + " \n", + " Hemorrhage occurring within the retina.\n", + " definition of HP:0000573 (Retinal hemorrhage)\n", + " \n", + " \n", + " #Retinal bleeding #Retinal haemorrhage #Retinal haemorrhages #Retinal hemorrhages\n", + " definition of HP:0000573 (Retinal hemorrhage)\n", + " \n", + " \n", + " Cock-walk gait\n", + " definition of HP:0031848 (Cock-walk gait)\n", + " \n", + " \n", + " An abnormality of gait that can be observed in individuals with dystonic posture in which the individual walks with an extended trunk and flexed arms, while strutting on the toes without the heels touching the floor.\n", + " definition of HP:0031848 (Cock-walk gait)\n", + " \n", + " \n", + " Inferior oblique muscle restriction\n", + " definition of HP:0025597 (Inferior oblique muscle restriction)\n", + " \n", + " \n", + " Mechanical limitation of the range of movement of the inferior oblique muscle.\n", + " definition of HP:0025597 (Inferior oblique muscle restriction)\n", + " \n", + " \n", + " Disciform macular scar\n", + " definition of HP:0025094 (Disciform macular scar)\n", + " \n", + " \n", + " A subretinal scar with a disc-like shape in the region of the macula.\n", + " definition of HP:0025094 (Disciform macular scar)\n", + " \n", + " \n", + " Scalp edema\n", + " definition of HP:6000959 (Scalp edema)\n", + " \n", + " \n", + " A palpable swelling in the scalp caused by an increase in interstitial fluid volume (excess fluid).\n", + " definition of HP:6000959 (Scalp edema)\n", + " \n", + " \n", + " Orbital cleft\n", + " definition of HP:0031574 (Orbital cleft)\n", + " \n", + " \n", + " A facial cleft characterized by involvement of the orbit.\n", + " definition of HP:0031574 (Orbital cleft)\n", + " \n", + " \n", + " Long hairs growing from helix of pinna\n", + " definition of HP:0008528 (Long hairs growing from helix of pinna)\n", + " \n", + " \n", + " #Long hairs growing from helix of ear\n", + " definition of HP:0008528 (Long hairs growing from helix of pinna)\n", + " \n", + " \n", + " Focal-onset epileptic spasm\n", + " definition of HP:0032843 (Focal-onset epileptic spasm)\n", + " \n", + " \n", + " A type of epileptic spasm of focal onset.\n", + " definition of HP:0032843 (Focal-onset epileptic spasm)\n", + " \n", + " \n", + " #Focal onset epileptic spasm\n", + " definition of HP:0032843 (Focal-onset epileptic spasm)\n", + " \n", + " \n", + " Prominent forehead\n", + " definition of HP:0011220 (Prominent forehead)\n", + " \n", + " \n", + " Forward prominence of the entire forehead, due to protrusion of the frontal bone.\n", + " definition of HP:0011220 (Prominent forehead)\n", + " \n", + " \n", + " #Prominence of frontal region #Prominent forehead #Pronounced forehead #Protruding forehead\n", + " definition of HP:0011220 (Prominent forehead)\n", + " \n", + " \n", + " Delayed talus ossification\n", + " definition of HP:0011836 (Delayed talus ossification)\n", + " \n", + " \n", + " Delayed maturation and calcification of the talus.\n", + " definition of HP:0011836 (Delayed talus ossification)\n", + " \n", + " \n", + " Osteolytic defects of the distal phalanges of the hand\n", + " definition of HP:0009839 (Osteolytic defects of the distal phalanges of the hand)\n", + " \n", + " \n", + " #Acro-osteolysis of distal phalanges #Acroosteolysis of distal phalanges #Osteolytic defects of the outermost finger bone of the hand\n", + " definition of HP:0009839 (Osteolytic defects of the distal phalanges of the hand)\n", + " \n", + " \n", + " Sclerosis of the proximal phalanx of the hallux\n", + " definition of HP:0100943 (Sclerosis of the proximal phalanx of the hallux)\n", + " \n", + " \n", + " #Increased bone density in the innermost bone of the big toe\n", + " definition of HP:0100943 (Sclerosis of the proximal phalanx of the hallux)\n", + " \n", + " \n", + " Abnormal CSF N-acetylaspartic acid concentration\n", + " definition of HP:6000673 (Abnormal CSF N-acetylaspartic acid concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of N-acetylaspartic acid in the cerebrospinal fluid (CSF).\n", + " definition of HP:6000673 (Abnormal CSF N-acetylaspartic acid concentration)\n", + " \n", + " \n", + " #Elevated urine 2-betanone level\n", + " definition of HP:6000673 (Abnormal CSF N-acetylaspartic acid concentration)\n", + " \n", + " \n", + " Type VI atherosclerotic lesion\n", + " definition of HP:0031683 (Type VI atherosclerotic lesion)\n", + " \n", + " \n", + " Type VI atherosclerotic lesions generally have the underlying morphology of type IV or V lesions, surface disruptions, hematoma, and thrombosis may be (although less often) superimposed on any other type of lesion and even on intima without an apparent lesion. Complicating features may arise because of individual differences in risk factors and tissue reactions. These may include differences in composition of the blood, the relative quantities and distributions in the components of the underlying lesion or intima, as well as modifications of shear and tensile forces to which the lesion or intima is exposed. Clinical imaging of lesions may be expected to contribute greatly to the understanding of type VI lesions and the associated clinical syndromes.\n", + " definition of HP:0031683 (Type VI atherosclerotic lesion)\n", + " \n", + " \n", + " Asymmetry of spinal facet joints\n", + " definition of HP:0008482 (Asymmetry of spinal facet joints)\n", + " \n", + " \n", + " Delayed menarche\n", + " definition of HP:0012569 (Delayed menarche)\n", + " \n", + " \n", + " First period after the age of 15 years.\n", + " definition of HP:0012569 (Delayed menarche)\n", + " \n", + " \n", + " #Delayed start of first period\n", + " definition of HP:0012569 (Delayed menarche)\n", + " \n", + " \n", + " Abnormal proportion of exhausted T cells\n", + " definition of HP:0041080 (Abnormal proportion of exhausted T cells)\n", + " \n", + " \n", + " A deviation from the normal proportion of exhausted T cell relative to T cell in the blood.\n", + " definition of HP:0041080 (Abnormal proportion of exhausted T cells)\n", + " \n", + " \n", + " Decreased T3/T4 ratio\n", + " definition of HP:0012560 (Decreased T3/T4 ratio)\n", + " \n", + " \n", + " A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is lower than normal.\n", + " definition of HP:0012560 (Decreased T3/T4 ratio)\n", + " \n", + " \n", + " Lymph-node extracapsular extension by lymph-node lymphocytes\n", + " definition of HP:0020238 (Lymph-node extracapsular extension by lymph-node lymphocytes)\n", + " \n", + " \n", + " Migration of lymphocytes into the soft tissues surrounding the lymph node.\n", + " definition of HP:0020238 (Lymph-node extracapsular extension by lymph-node lymphocytes)\n", + " \n", + " \n", + " Small intestine carcinoid\n", + " definition of HP:0006722 (Small intestine carcinoid)\n", + " \n", + " \n", + " Dysgenesis of the thalamus\n", + " definition of HP:0025099 (Dysgenesis of the thalamus)\n", + " \n", + " \n", + " Structural abnormality of the thalamus related to defective development.\n", + " definition of HP:0025099 (Dysgenesis of the thalamus)\n", + " \n", + " \n", + " #Thalamic dysgenesis\n", + " definition of HP:0025099 (Dysgenesis of the thalamus)\n", + " \n", + " \n", + " Broad distal phalanx of the 3rd finger\n", + " definition of HP:0009422 (Broad distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Increased width of the distal phalanx of the 3rd finger.\n", + " definition of HP:0009422 (Broad distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Broad outermost bone of middle finger\n", + " definition of HP:0009422 (Broad distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Beta-EEG\n", + " definition of HP:0011179 (Beta-EEG)\n", + " \n", + " \n", + " EEG dominated by diffuse beta-waves (>13 Hz).\n", + " definition of HP:0011179 (Beta-EEG)\n", + " \n", + " \n", + " #Beta wave electroencephalography\n", + " definition of HP:0011179 (Beta-EEG)\n", + " \n", + " \n", + " Fixed fetal extremities\n", + " definition of HP:6000770 (Fixed fetal extremities)\n", + " \n", + " \n", + " A condition in which the limbs of a fetus are immobile or held in a rigid position. The limbs are consistently immobile and rigid. Fixed extremities can be observed during prenatal imaging (e.g., ultrasound).\n", + " definition of HP:6000770 (Fixed fetal extremities)\n", + " \n", + " \n", + " Atypical or prolonged hepatitis\n", + " definition of HP:0200122 (Atypical or prolonged hepatitis)\n", + " \n", + " \n", + " #Atypical or prolonged liver inflammation\n", + " definition of HP:0200122 (Atypical or prolonged hepatitis)\n", + " \n", + " \n", + " Duplication of the proximal phalanx of the 5th finger\n", + " definition of HP:0009990 (Duplication of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " Partial or complete duplication of the fifth proximal phalanx of hand.\n", + " definition of HP:0009990 (Duplication of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " #Duplication of the innermost little finger bone #Duplication of the innermost pinkie finger bone #Duplication of the innermost pinky finger bone #Partial/complete duplication of the proximal phalanx of the 5th finger\n", + " definition of HP:0009990 (Duplication of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " Premature delivery because of cervical insufficiency or membrane fragility\n", + " definition of HP:0005267 (Premature delivery because of cervical insufficiency or membrane fragility)\n", + " \n", + " \n", + " Renal cortical adenoma\n", + " definition of HP:0006735 (Renal cortical adenoma)\n", + " \n", + " \n", + " The presence of an adenoma in the cortex of the kidney.\n", + " definition of HP:0006735 (Renal cortical adenoma)\n", + " \n", + " \n", + " #Kidney cortical adenoma\n", + " definition of HP:0006735 (Renal cortical adenoma)\n", + " \n", + " \n", + " Transient global amnesia\n", + " definition of HP:0010534 (Transient global amnesia)\n", + " \n", + " \n", + " A paroxysmal, transient loss of memory function with preservation of immediate recall and remote memory but with a severe impairment of memory for recent events and ability to retain new information.\n", + " definition of HP:0010534 (Transient global amnesia)\n", + " \n", + " \n", + " Unilateral absence of pectoralis major muscle\n", + " definition of HP:0005256 (Unilateral absence of pectoralis major muscle)\n", + " \n", + " \n", + " Aplasia (congenital absence) of the pectoralis minor on only one side of the chest.\n", + " definition of HP:0005256 (Unilateral absence of pectoralis major muscle)\n", + " \n", + " \n", + " #Unilateral aplasia of pectoralis major muscle\n", + " definition of HP:0005256 (Unilateral absence of pectoralis major muscle)\n", + " \n", + " \n", + " Mesangial fibril deposition\n", + " definition of HP:0033544 (Mesangial fibril deposition)\n", + " \n", + " \n", + " Extracellular mesangial accumulation of slender proteinaceous fibers.\n", + " definition of HP:0033544 (Mesangial fibril deposition)\n", + " \n", + " \n", + " Imperforate atrioventricular valve\n", + " definition of HP:0011574 (Imperforate atrioventricular valve)\n", + " \n", + " \n", + " An atrioventricular valve that has failed to open (atretic).\n", + " definition of HP:0011574 (Imperforate atrioventricular valve)\n", + " \n", + " \n", + " #Unopened atrioventricular valve\n", + " definition of HP:0011574 (Imperforate atrioventricular valve)\n", + " \n", + " \n", + " Congenital megaureter\n", + " definition of HP:0008676 (Congenital megaureter)\n", + " \n", + " \n", + " A developmental disturbance with extreme ureteral dilatation.\n", + " definition of HP:0008676 (Congenital megaureter)\n", + " \n", + " \n", + " #Congenital megaloureter\n", + " definition of HP:0008676 (Congenital megaureter)\n", + " \n", + " \n", + " Orotic acid crystalluria\n", + " definition of HP:0003526 (Orotic acid crystalluria)\n", + " \n", + " \n", + " Formation of crystals owing to an increased concentration of orotic acid in the urine.\n", + " definition of HP:0003526 (Orotic acid crystalluria)\n", + " \n", + " \n", + " Osteoma cutis\n", + " definition of HP:0025027 (Osteoma cutis)\n", + " \n", + " \n", + " The term osteoma refers to the anomalous presence of ossification (bone formation) in the interior of the dermis or epidermis. The dermal or subcutaneous bone formation presents as stony hard nodules. The osteomata appear as irregular, hardened small nodules that are well circumscribed and generally of the same color as the skin.\n", + " definition of HP:0025027 (Osteoma cutis)\n", + " \n", + " \n", + " #Cutaneous osteosis #Miliary osteoma #Osteomatosis\n", + " definition of HP:0025027 (Osteoma cutis)\n", + " \n", + " \n", + " Plasmacytosis\n", + " definition of HP:0030150 (Plasmacytosis)\n", + " \n", + " \n", + " An abnormally increased number of plasma cells in tissues, exudates, or blood\n", + " definition of HP:0030150 (Plasmacytosis)\n", + " \n", + " \n", + " Absent or minimally ossified vertebral bodies\n", + " definition of HP:0004599 (Absent or minimally ossified vertebral bodies)\n", + " \n", + " \n", + " Vaginal passage of hydatidiform mole tissue\n", + " definition of HP:6000061 (Vaginal passage of hydatidiform mole tissue)\n", + " \n", + " \n", + " Passage from the vagina of hyatidiform tissue, appearing as clusters of vesicles (similar to small grapes) developed from the transformation of chorionic villi. This is a manifestation of a molar pregnancy (hyatidiform mole).\n", + " definition of HP:6000061 (Vaginal passage of hydatidiform mole tissue)\n", + " \n", + " \n", + " #Solid tissue passed by the vagina\n", + " definition of HP:6000061 (Vaginal passage of hydatidiform mole tissue)\n", + " \n", + " \n", + " Inability to walk by childhood/adolescence\n", + " definition of HP:0006915 (Inability to walk by childhood/adolescence)\n", + " \n", + " \n", + " #Inability to walk by childhood/adolescence\n", + " definition of HP:0006915 (Inability to walk by childhood/adolescence)\n", + " \n", + " \n", + " Non-polarized lymph node germinal centers\n", + " definition of HP:0020247 (Non-polarized lymph node germinal centers)\n", + " \n", + " \n", + " A loss of the typical polarization of the architecture of a lymph node germinal center.\n", + " definition of HP:0020247 (Non-polarized lymph node germinal centers)\n", + " \n", + " \n", + " Coiled sperm flagella\n", + " definition of HP:0032560 (Coiled sperm flagella)\n", + " \n", + " \n", + " Sperm cells whose flagella are twisted (coiled).\n", + " definition of HP:0032560 (Coiled sperm flagella)\n", + " \n", + " \n", + " Fragmentation of the epiphyses of the hallux\n", + " definition of HP:0010117 (Fragmentation of the epiphyses of the hallux)\n", + " \n", + " \n", + " #Fragmentation of the end part of the big toe bone\n", + " definition of HP:0010117 (Fragmentation of the epiphyses of the hallux)\n", + " \n", + " \n", + " Abnormal length of corpus callosum\n", + " definition of HP:0200011 (Abnormal length of corpus callosum)\n", + " \n", + " \n", + " Recurrent lower respiratory tract infections\n", + " definition of HP:0002783 (Recurrent lower respiratory tract infections)\n", + " \n", + " \n", + " An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.\n", + " definition of HP:0002783 (Recurrent lower respiratory tract infections)\n", + " \n", + " \n", + " #Chronic lung infections #Lower respiratory tract infections #Recurrent chest infections\n", + " definition of HP:0002783 (Recurrent lower respiratory tract infections)\n", + " \n", + " \n", + " Male reproductive system neoplasm\n", + " definition of HP:0033019 (Male reproductive system neoplasm)\n", + " \n", + " \n", + " A neoplasm that affects the male reproductive system.\n", + " definition of HP:0033019 (Male reproductive system neoplasm)\n", + " \n", + " \n", + " Abnormal systemic arterial morphology\n", + " definition of HP:0011004 (Abnormal systemic arterial morphology)\n", + " \n", + " \n", + " An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries.\n", + " definition of HP:0011004 (Abnormal systemic arterial morphology)\n", + " \n", + " \n", + " #Abnormal systemic artery morphology #Abnormality of the systemic arterial tree #Systemic artery abnormality\n", + " definition of HP:0011004 (Abnormal systemic arterial morphology)\n", + " \n", + " \n", + " Duplication of the distal phalanx of the 4th finger\n", + " definition of HP:0009975 (Duplication of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " Partial or complete duplication of the distal phalanx of ring finger.\n", + " definition of HP:0009975 (Duplication of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " #Partial/complete duplication of the distal phalanx of the 4th finger #Partial/complete duplication of the outermost bone of the ring finger\n", + " definition of HP:0009975 (Duplication of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " Lumbar hemivertebrae\n", + " definition of HP:0008439 (Lumbar hemivertebrae)\n", + " \n", + " \n", + " Absence of one half of the vertebral body in the lumbar spine.\n", + " definition of HP:0008439 (Lumbar hemivertebrae)\n", + " \n", + " \n", + " Abnormal bronchus physiology\n", + " definition of HP:0025427 (Abnormal bronchus physiology)\n", + " \n", + " \n", + " Any anomaly of the function of the bronchi.\n", + " definition of HP:0025427 (Abnormal bronchus physiology)\n", + " \n", + " \n", + " Focal impaired awareness undressing automatism seizure\n", + " definition of HP:0032927 (Focal impaired awareness undressing automatism seizure)\n", + " \n", + " \n", + " A type of focal automatism in which awareness is partially or fully impaired at some point during the seizure and is seizure characterized by involuntary undressing at onset.\n", + " definition of HP:0032927 (Focal impaired awareness undressing automatism seizure)\n", + " \n", + " \n", + " Migratory\n", + " definition of HP:0025279 (Migratory)\n", + " \n", + " \n", + " Medial calcification of medium-sized arteries\n", + " definition of HP:0012457 (Medial calcification of medium-sized arteries)\n", + " \n", + " \n", + " Calcification, that is, pathological deposition of calcium salts in the tunica media of medium-sized (muscular or distributive) arteries.\n", + " definition of HP:0012457 (Medial calcification of medium-sized arteries)\n", + " \n", + " \n", + " Neonatal breathing dysregulation\n", + " definition of HP:0002790 (Neonatal breathing dysregulation)\n", + " \n", + " \n", + " #Impaired breathing in newborn\n", + " definition of HP:0002790 (Neonatal breathing dysregulation)\n", + " \n", + " \n", + " Costochondral pain\n", + " definition of HP:0006649 (Costochondral pain)\n", + " \n", + " \n", + " Chest wall pain in the area of the costochondral junctions.\n", + " definition of HP:0006649 (Costochondral pain)\n", + " \n", + " \n", + " #Costochondral junction pain\n", + " definition of HP:0006649 (Costochondral pain)\n", + " \n", + " \n", + " Reduced erythrocyte arginase activity\n", + " definition of HP:4000203 (Reduced erythrocyte arginase activity)\n", + " \n", + " \n", + " Activity or concentration of arginase (EC 3.5.3.1) in red blood cells below the lower limit of normal. Arginase catalyzes the last step of the urea cycle.\n", + " definition of HP:4000203 (Reduced erythrocyte arginase activity)\n", + " \n", + " \n", + " Hyperasparaginemia\n", + " definition of HP:0500156 (Hyperasparaginemia)\n", + " \n", + " \n", + " An increased amount of asparagine in the blood.\n", + " definition of HP:0500156 (Hyperasparaginemia)\n", + " \n", + " \n", + " #High blood asaparagine levels #Increased blood asparagine concentration\n", + " definition of HP:0500156 (Hyperasparaginemia)\n", + " \n", + " \n", + " Fractured middle phalanx of manual digit 5\n", + " definition of HP:0041185 (Fractured middle phalanx of manual digit 5)\n", + " \n", + " \n", + " A partial or complete breakage of the middle phalanx of manual digit 5.\n", + " definition of HP:0041185 (Fractured middle phalanx of manual digit 5)\n", + " \n", + " \n", + " #bone middle phalanx of manual digit 5\n", + " definition of HP:0041185 (Fractured middle phalanx of manual digit 5)\n", + " \n", + " \n", + " IgG heavy chain paraproteinemia\n", + " definition of HP:0020195 (IgG heavy chain paraproteinemia)\n", + " \n", + " \n", + " An abnormal IgG heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells.\n", + " definition of HP:0020195 (IgG heavy chain paraproteinemia)\n", + " \n", + " \n", + " Large humeral epiphyses\n", + " definition of HP:0003898 (Large humeral epiphyses)\n", + " \n", + " \n", + " #Large end part of long bone in upper arm\n", + " definition of HP:0003898 (Large humeral epiphyses)\n", + " \n", + " \n", + " Tibial deviation of the 4th toe\n", + " definition of HP:0100341 (Tibial deviation of the 4th toe)\n", + " \n", + " \n", + " Pink urine\n", + " definition of HP:0032001 (Pink urine)\n", + " \n", + " \n", + " An abnormal pink color of urine.\n", + " definition of HP:0032001 (Pink urine)\n", + " \n", + " \n", + " Abnormal leukocyte physiology\n", + " definition of HP:0033796 (Abnormal leukocyte physiology)\n", + " \n", + " \n", + " A functional abnormality of a white blood cell.\n", + " definition of HP:0033796 (Abnormal leukocyte physiology)\n", + " \n", + " \n", + " Liver kidney microsome type 1 antibody positivity\n", + " definition of HP:0030908 (Liver kidney microsome type 1 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against P450 2D6, a cytochrome P450 mono-oxygenase. Anti-LKM-1 antibodies are considered to be a diagnostic marker of autoimmune hepatitis type 2 (AIH2).\n", + " definition of HP:0030908 (Liver kidney microsome type 1 antibody positivity)\n", + " \n", + " \n", + " #Anti-liver kidney microsomal type 1 antibody positivity #Anti-LKM-1 positive #Anti-LKM1 antibody positivity #Anti-type I liver-kidney microsomal antibody positivity\n", + " definition of HP:0030908 (Liver kidney microsome type 1 antibody positivity)\n", + " \n", + " \n", + " Centrilobular emphysema\n", + " definition of HP:0032966 (Centrilobular emphysema)\n", + " \n", + " \n", + " A type of emphysema characterized by destroyed centrilobular alveolar walls and enlargement of respiratory bronchioles and associated alveoli. This is the commonest form of emphysema in cigarette smokers. CT findings are centrilobular areas of decreased attenuation, usually without visible walls, of nonuniform distribution and predominantly located in upper lung zones.\n", + " definition of HP:0032966 (Centrilobular emphysema)\n", + " \n", + " \n", + " #Centriacinar emphysema\n", + " definition of HP:0032966 (Centrilobular emphysema)\n", + " \n", + " \n", + " Bifid scrotum\n", + " definition of HP:0000048 (Bifid scrotum)\n", + " \n", + " \n", + " Midline indentation or cleft of the scrotum.\n", + " definition of HP:0000048 (Bifid scrotum)\n", + " \n", + " \n", + " #Cleft of scrotum #Scrotal cleft\n", + " definition of HP:0000048 (Bifid scrotum)\n", + " \n", + " \n", + " Neoplasm of the anterior pituitary\n", + " definition of HP:0011750 (Neoplasm of the anterior pituitary)\n", + " \n", + " \n", + " A tumor (abnormal growth of tissue) of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland.\n", + " definition of HP:0011750 (Neoplasm of the anterior pituitary)\n", + " \n", + " \n", + " #Neoplasm of the adenohypophysis #Neoplasm of the pars anterior\n", + " definition of HP:0011750 (Neoplasm of the anterior pituitary)\n", + " \n", + " \n", + " Decreased CSF threonine concentration\n", + " definition of HP:0500213 (Decreased CSF threonine concentration)\n", + " \n", + " \n", + " Abnormally decreased levels of threonine in cerebrospinal fluid.\n", + " definition of HP:0500213 (Decreased CSF threonine concentration)\n", + " \n", + " \n", + " #Low threonine levels in the cerebrospinal fluid\n", + " definition of HP:0500213 (Decreased CSF threonine concentration)\n", + " \n", + " \n", + " Short ribs\n", + " definition of HP:0000773 (Short ribs)\n", + " \n", + " \n", + " Reduced rib length.\n", + " definition of HP:0000773 (Short ribs)\n", + " \n", + " \n", + " #Hypoplastic ribs #Rib hypoplasia #Short ribs\n", + " definition of HP:0000773 (Short ribs)\n", + " \n", + " \n", + " Peripheral nerve polyglucosan inclusion bodies\n", + " definition of HP:0034834 (Peripheral nerve polyglucosan inclusion bodies)\n", + " \n", + " \n", + " Accumulation of a poorly branched and poorly spherical amylopectin-like glycogen (polyglucosan) in peripheral nerve fibers.\n", + " definition of HP:0034834 (Peripheral nerve polyglucosan inclusion bodies)\n", + " \n", + " \n", + " Abnormal hard palate morphology\n", + " definition of HP:0100737 (Abnormal hard palate morphology)\n", + " \n", + " \n", + " #Abnormality of the hard palate\n", + " definition of HP:0100737 (Abnormal hard palate morphology)\n", + " \n", + " \n", + " Abnormal mitral valve leaflet morphology\n", + " definition of HP:0031480 (Abnormal mitral valve leaflet morphology)\n", + " \n", + " \n", + " Any structural anomaly of the leaflets (also known as cusps) of the mitral valve.\n", + " definition of HP:0031480 (Abnormal mitral valve leaflet morphology)\n", + " \n", + " \n", + " Anti-myelin oligodendrocyte glycoprotein antibody positivity\n", + " definition of HP:0032492 (Anti-myelin oligodendrocyte glycoprotein antibody positivity)\n", + " \n", + " \n", + " Presence of antibodies in the serum that react against myelin oligodendrocyte glycoprotein.\n", + " definition of HP:0032492 (Anti-myelin oligodendrocyte glycoprotein antibody positivity)\n", + " \n", + " \n", + " #Anti-MOG antibody positivity\n", + " definition of HP:0032492 (Anti-myelin oligodendrocyte glycoprotein antibody positivity)\n", + " \n", + " \n", + " Absent upper eyelashes\n", + " definition of HP:0040056 (Absent upper eyelashes)\n", + " \n", + " \n", + " #Absent upper eyelashes #Atrichia of upper eyelashes #Failure of development of upper eyelashes\n", + " definition of HP:0040056 (Absent upper eyelashes)\n", + " \n", + " \n", + " Popliteal pterygium\n", + " definition of HP:0009756 (Popliteal pterygium)\n", + " \n", + " \n", + " A pterygium (or pterygia) occurring in the popliteal region (the back of the knee).\n", + " definition of HP:0009756 (Popliteal pterygium)\n", + " \n", + " \n", + " Recurrent pancreatitis\n", + " definition of HP:0100027 (Recurrent pancreatitis)\n", + " \n", + " \n", + " A recurrent form of pancreatitis.\n", + " definition of HP:0100027 (Recurrent pancreatitis)\n", + " \n", + " \n", + " #Recurring pancreas inflammation #Recurring pancreatitis\n", + " definition of HP:0100027 (Recurrent pancreatitis)\n", + " \n", + " \n", + " Dysesthesia\n", + " definition of HP:0012534 (Dysesthesia)\n", + " \n", + " \n", + " Painful sensations elicited by a nonpainful cutaneous stimulus such as a light touch or gentle stroking over affected areas of the body. Sometimes referred to as hyperpathia or hyperalgesia. Often perceived as an intense burning, dyesthesias may outlast the stimulus by several seconds.\n", + " definition of HP:0012534 (Dysesthesia)\n", + " \n", + " \n", + " #Dysaesthesia #Hyperalgesia #Hyperpathia\n", + " definition of HP:0012534 (Dysesthesia)\n", + " \n", + " \n", + " Elevated circulating inhibin A concentration\n", + " definition of HP:6000519 (Elevated circulating inhibin A concentration)\n", + " \n", + " \n", + " The concentration of inibin A in the blood circulation is above the upper limit of normal.\n", + " definition of HP:6000519 (Elevated circulating inhibin A concentration)\n", + " \n", + " \n", + " Small basal ganglia\n", + " definition of HP:0012697 (Small basal ganglia)\n", + " \n", + " \n", + " Decreased size of the basal ganglia.\n", + " definition of HP:0012697 (Small basal ganglia)\n", + " \n", + " \n", + " Increased urinary phosphoserine level\n", + " definition of HP:0032405 (Increased urinary phosphoserine level)\n", + " \n", + " \n", + " An increased level of phosphoserine in the urine.\n", + " definition of HP:0032405 (Increased urinary phosphoserine level)\n", + " \n", + " \n", + " #Increased level of phosphoserine in urine\n", + " definition of HP:0032405 (Increased urinary phosphoserine level)\n", + " \n", + " \n", + " Delayed ability to roll over\n", + " definition of HP:0032989 (Delayed ability to roll over)\n", + " \n", + " \n", + " Delayed achievement of the ability to roll front to back and back to front.\n", + " definition of HP:0032989 (Delayed ability to roll over)\n", + " \n", + " \n", + " Pineocytoma\n", + " definition of HP:0030407 (Pineocytoma)\n", + " \n", + " \n", + " A type of pineal parenchymal cell neoplasm that is a mature well-differentiated tumor (WHO grade I).\n", + " definition of HP:0030407 (Pineocytoma)\n", + " \n", + " \n", + " Abnormal spinal cord morphology\n", + " definition of HP:0002143 (Abnormal spinal cord morphology)\n", + " \n", + " \n", + " A structural abnormality of the spinal cord (myelon).\n", + " definition of HP:0002143 (Abnormal spinal cord morphology)\n", + " \n", + " \n", + " #Abnormality of the spinal cord\n", + " definition of HP:0002143 (Abnormal spinal cord morphology)\n", + " \n", + " \n", + " Focal aware verbal automatism seizure\n", + " definition of HP:0032916 (Focal aware verbal automatism seizure)\n", + " \n", + " \n", + " A type of focal automatism seizure characterized by the production of single or repetitive words, phrases, or brief sentences at onset and during which awareness is fully retained throughout.\n", + " definition of HP:0032916 (Focal aware verbal automatism seizure)\n", + " \n", + " \n", + " Decreased CSF glutamate concentration\n", + " definition of HP:0500201 (Decreased CSF glutamate concentration)\n", + " \n", + " \n", + " Abnormally decreased levels of glutamic acid in cerebrospinal fluid.\n", + " definition of HP:0500201 (Decreased CSF glutamate concentration)\n", + " \n", + " \n", + " #Low glutamic acid levels in cerebrospinal fluid\n", + " definition of HP:0500201 (Decreased CSF glutamate concentration)\n", + " \n", + " \n", + " Progressive intervertebral space narrowing\n", + " definition of HP:0004622 (Progressive intervertebral space narrowing)\n", + " \n", + " \n", + " A progressive form of decreased height of the intervertebral disk.\n", + " definition of HP:0004622 (Progressive intervertebral space narrowing)\n", + " \n", + " \n", + " Hypoproteinemia\n", + " definition of HP:0003075 (Hypoproteinemia)\n", + " \n", + " \n", + " A decreased concentration of protein in the blood.\n", + " definition of HP:0003075 (Hypoproteinemia)\n", + " \n", + " \n", + " #Decreased protein levels in blood\n", + " definition of HP:0003075 (Hypoproteinemia)\n", + " \n", + " \n", + " Reduced factor IX activity\n", + " definition of HP:0011858 (Reduced factor IX activity)\n", + " \n", + " \n", + " Decreased activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa.\n", + " definition of HP:0011858 (Reduced factor IX activity)\n", + " \n", + " \n", + " #Low factor IX activity\n", + " definition of HP:0011858 (Reduced factor IX activity)\n", + " \n", + " \n", + " Neuroblastic tumor\n", + " definition of HP:0004376 (Neuroblastic tumor)\n", + " \n", + " \n", + " A family of tumors arising in the embryonal remnants of the sympathetic nervous system, which includes neuroblastoma, ganglioneuroblastoma, and ganglioneuroma.\n", + " definition of HP:0004376 (Neuroblastic tumor)\n", + " \n", + " \n", + " #Neuroblastic tumour\n", + " definition of HP:0004376 (Neuroblastic tumor)\n", + " \n", + " \n", + " Abnormal left ventricular endsystolic diameter\n", + " definition of HP:0034385 (Abnormal left ventricular endsystolic diameter)\n", + " \n", + " \n", + " A deviation from the normal range of the left ventricular endsystolic diameter.\n", + " definition of HP:0034385 (Abnormal left ventricular endsystolic diameter)\n", + " \n", + " \n", + " Ipsilateral lack of facial sweating\n", + " definition of HP:0007451 (Ipsilateral lack of facial sweating)\n", + " \n", + " \n", + " Inability to sweat on the same side of the face that is affected by ptosis and miosis. This is a feature of Horner syndrome.\n", + " definition of HP:0007451 (Ipsilateral lack of facial sweating)\n", + " \n", + " \n", + " Fusion of the cerebellar hemispheres\n", + " definition of HP:0006899 (Fusion of the cerebellar hemispheres)\n", + " \n", + " \n", + " Unilateral deafness\n", + " definition of HP:0009900 (Unilateral deafness)\n", + " \n", + " \n", + " A unilateral absence of sensory perception of sound.\n", + " definition of HP:0009900 (Unilateral deafness)\n", + " \n", + " \n", + " #Deafness in one ear #Deafness, unilateral\n", + " definition of HP:0009900 (Unilateral deafness)\n", + " \n", + " \n", + " Absent malleus\n", + " definition of HP:0011455 (Absent malleus)\n", + " \n", + " \n", + " Aplasia of the malleus.\n", + " definition of HP:0011455 (Absent malleus)\n", + " \n", + " \n", + " Duodenal aganglionosis\n", + " definition of HP:0011465 (Duodenal aganglionosis)\n", + " \n", + " \n", + " A lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) affecting the duodenum.\n", + " definition of HP:0011465 (Duodenal aganglionosis)\n", + " \n", + " \n", + " Increased circulating metamyelocyte count\n", + " definition of HP:0032238 (Increased circulating metamyelocyte count)\n", + " \n", + " \n", + " The number of metamyelocytes in the peripheral blood circulation is above the upper limit of normal. Metamyelocytes are immature neutrophils with a size of 10-18 micrometers, an indented or kidney-shaped nucleus, pinkish-blue staining cytoplasm with secondary granules, and a nucleus:cytoplasm ratio of 1.5:1.\n", + " definition of HP:0032238 (Increased circulating metamyelocyte count)\n", + " \n", + " \n", + " Retinopathy of prematurity zone III\n", + " definition of HP:0500061 (Retinopathy of prematurity zone III)\n", + " \n", + " \n", + " Retinopathy which is a residual crescent of retina anterior to zone II.\n", + " definition of HP:0500061 (Retinopathy of prematurity zone III)\n", + " \n", + " \n", + " #ROP zone III\n", + " definition of HP:0500061 (Retinopathy of prematurity zone III)\n", + " \n", + " \n", + " Anteverted nares\n", + " definition of HP:0000463 (Anteverted nares)\n", + " \n", + " \n", + " Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).\n", + " definition of HP:0000463 (Anteverted nares)\n", + " \n", + " \n", + " #Anteverted nose #Anteverted nostrils #Nasal tip, upturned #Nostrils anteverted #Upturned nares #Upturned nasal tip #Upturned nose #Upturned nostrils\n", + " definition of HP:0000463 (Anteverted nares)\n", + " \n", + " \n", + " Broad phalanges of the 2nd finger\n", + " definition of HP:0009547 (Broad phalanges of the 2nd finger)\n", + " \n", + " \n", + " #Wide index finger bones #Wide/broad index finger phalanges\n", + " definition of HP:0009547 (Broad phalanges of the 2nd finger)\n", + " \n", + " \n", + " Increased circulating T4 concentration\n", + " definition of HP:0031506 (Increased circulating T4 concentration)\n", + " \n", + " \n", + " An elevation above the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3).\n", + " definition of HP:0031506 (Increased circulating T4 concentration)\n", + " \n", + " \n", + " #Increased circulating T4 level #Increased circulating thyroxine level\n", + " definition of HP:0031506 (Increased circulating T4 concentration)\n", + " \n", + " \n", + " Anti-Bartonella henselae antibody positivity\n", + " definition of HP:0430081 (Anti-Bartonella henselae antibody positivity)\n", + " \n", + " \n", + " The presence of antibodies in the blood circulation that react against a component of Bartonella.\n", + " definition of HP:0430081 (Anti-Bartonella henselae antibody positivity)\n", + " \n", + " \n", + " #Bartonella henselae antibody titer high in blood\n", + " definition of HP:0430081 (Anti-Bartonella henselae antibody positivity)\n", + " \n", + " \n", + " Feeding difficulties in infancy\n", + " definition of HP:0008872 (Feeding difficulties in infancy)\n", + " \n", + " \n", + " Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.\n", + " definition of HP:0008872 (Feeding difficulties in infancy)\n", + " \n", + " \n", + " Abnormal circulating beta-mannosidase activity\n", + " definition of HP:0034725 (Abnormal circulating beta-mannosidase activity)\n", + " \n", + " \n", + " Activity of the enzyme beta-mannosidase outside normal limits. Beta-mannosidase is a lysosomal enzyme that catabolizes oligosaccharides.\n", + " definition of HP:0034725 (Abnormal circulating beta-mannosidase activity)\n", + " \n", + " \n", + " Pancreatic VIPoma\n", + " definition of HP:6000897 (Pancreatic VIPoma)\n", + " \n", + " \n", + " A type of neuroendocrine tumor that originates in the pancreas and secretes excessive amounts of vasoactive intestinal peptide (VIP).\n", + " definition of HP:6000897 (Pancreatic VIPoma)\n", + " \n", + " \n", + " #Vasoactive intestinal peptide-secreting tumor of the pancreas\n", + " definition of HP:6000897 (Pancreatic VIPoma)\n", + " \n", + " \n", + " Midline direction of ventricular apex\n", + " definition of HP:0011602 (Midline direction of ventricular apex)\n", + " \n", + " \n", + " Abnormal plane of direction of the heart from the base to the apex in the midline. Left sided is normal.\n", + " definition of HP:0011602 (Midline direction of ventricular apex)\n", + " \n", + " \n", + " Mental deterioration\n", + " definition of HP:0001268 (Mental deterioration)\n", + " \n", + " \n", + " Loss of previously present mental abilities, generally in adults.\n", + " definition of HP:0001268 (Mental deterioration)\n", + " \n", + " \n", + " #Cognitive decline #Cognitive decline, progressive #Intellectual deterioration #Mental deterioration #Progressive cognitive decline\n", + " definition of HP:0001268 (Mental deterioration)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the patella\n", + " definition of HP:0006498 (Aplasia/Hypoplasia of the patella)\n", + " \n", + " \n", + " Absence or underdevelopment of the patella.\n", + " definition of HP:0006498 (Aplasia/Hypoplasia of the patella)\n", + " \n", + " \n", + " #Absent or hypoplastic patellae #Absent/hypoplastic patella #Absent/small kneecap #Absent/underdeveloped kneecap #Aplastic or hypoplastic patellae #Hypoplastic or absent patella #Patellar aplasia/hypoplasia #Small to absent patellae\n", + " definition of HP:0006498 (Aplasia/Hypoplasia of the patella)\n", + " \n", + " \n", + " Microsleep\n", + " definition of HP:5200289 (Microsleep)\n", + " \n", + " \n", + " Sudden onset of extreme drowsiness or falling asleep during the day for a short period of time.\n", + " definition of HP:5200289 (Microsleep)\n", + " \n", + " \n", + " #Short duration sleep\n", + " definition of HP:5200289 (Microsleep)\n", + " \n", + " \n", + " Abnormal circulating fatty-acid concentration\n", + " definition of HP:0004359 (Abnormal circulating fatty-acid concentration)\n", + " \n", + " \n", + " A deviation from the normal concentration of a fatty acid in the blood circulation.\n", + " definition of HP:0004359 (Abnormal circulating fatty-acid concentration)\n", + " \n", + " \n", + " #Abnormality of fatty acid metabolism\n", + " definition of HP:0004359 (Abnormal circulating fatty-acid concentration)\n", + " \n", + " \n", + " Grade II preterm intraventricular hemorrhage\n", + " definition of HP:0030749 (Grade II preterm intraventricular hemorrhage)\n", + " \n", + " \n", + " Intraventricular hemorrhage that occurs in a preterm infant and that has extension into normal-sized ventricles and typically fills less than 50% of the volume of the ventricle.\n", + " definition of HP:0030749 (Grade II preterm intraventricular hemorrhage)\n", + " \n", + " \n", + " #Grade II preterm intraventricular haemorrhage\n", + " definition of HP:0030749 (Grade II preterm intraventricular hemorrhage)\n", + " \n", + " \n", + " Pressure ulcer\n", + " definition of HP:0012399 (Pressure ulcer)\n", + " \n", + " \n", + " A type of ulcer that is caused when an area of skin is subject to pressure over a prolonged period of time, ranging in range in severity from patches of discolored skin to open wounds that expose the underlying bone or muscle. The most common sites are the sacrum, coccyx, heels and the hips.\n", + " definition of HP:0012399 (Pressure ulcer)\n", + " \n", + " \n", + " #Bedsore #Decubitus Ulcer #Pressure Sore #Pressure ulcer\n", + " definition of HP:0012399 (Pressure ulcer)\n", + " \n", + " \n", + " Multicentric femoral head ossification\n", + " definition of HP:0008835 (Multicentric femoral head ossification)\n", + " \n", + " \n", + " There is normally one ossification center in the head of the femur. This term applies if there are multiple such centers.\n", + " definition of HP:0008835 (Multicentric femoral head ossification)\n", + " \n", + " \n", + " Absent epiphysis of the middle phalanx of the 3rd toe\n", + " definition of HP:0100146 (Absent epiphysis of the middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Absent end part of the middle bone of the 3rd toe\n", + " definition of HP:0100146 (Absent epiphysis of the middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the calvaria\n", + " definition of HP:6000872 (Aplasia/Hypoplasia of the calvaria)\n", + " \n", + " \n", + " A developmental defect characterized by absence or underdevelopment of the calvaria.\n", + " definition of HP:6000872 (Aplasia/Hypoplasia of the calvaria)\n", + " \n", + " \n", + " Radioulnar subluxation\n", + " definition of HP:6000506 (Radioulnar subluxation)\n", + " \n", + " \n", + " Partial dislocation of the radioulnar joint.\n", + " definition of HP:6000506 (Radioulnar subluxation)\n", + " \n", + " \n", + " Elevated CSF sepiapterin concentration\n", + " definition of HP:6000975 (Elevated CSF sepiapterin concentration)\n", + " \n", + " \n", + " Concentration of sepiapterin in the cerebrospinal fluid (CSF) below the lower limit of normal.\n", + " definition of HP:6000975 (Elevated CSF sepiapterin concentration)\n", + " \n", + " \n", + " Confusional arousal\n", + " definition of HP:0025237 (Confusional arousal)\n", + " \n", + " \n", + " A nocturnal episode is characterized by disorientation, grogginess, and, at times, significant agitation upon awakening from slow-wave sleep or following forced awakenings.\n", + " definition of HP:0025237 (Confusional arousal)\n", + " \n", + " \n", + " #Disoriented #Slow speech or confused thinking upon waking #Unresponsive\n", + " definition of HP:0025237 (Confusional arousal)\n", + " \n", + " \n", + " Osteoblastoma\n", + " definition of HP:0011846 (Osteoblastoma)\n", + " \n", + " \n", + " A benign, painful, tumor of bone characterized by the formation of osteoid tissue, primitive bone and calcified tissue.\n", + " definition of HP:0011846 (Osteoblastoma)\n", + " \n", + " \n", + " Triangular epiphyses of the metacarpals\n", + " definition of HP:0009171 (Triangular epiphyses of the metacarpals)\n", + " \n", + " \n", + " A triangular appearance of the epiphyses of the metacarpals. These epiphyses are located at the distal end of the metacarpals.\n", + " definition of HP:0009171 (Triangular epiphyses of the metacarpals)\n", + " \n", + " \n", + " #Triangular end part of the long bone of hand\n", + " definition of HP:0009171 (Triangular epiphyses of the metacarpals)\n", + " \n", + " \n", + " Hypophoria\n", + " definition of HP:0031725 (Hypophoria)\n", + " \n", + " \n", + " A form of latent strabismus (heterophoria) in which, on dissociation, the occluded eye deviates downwards.\n", + " definition of HP:0031725 (Hypophoria)\n", + " \n", + " \n", + " Abnormal libido\n", + " definition of HP:0031845 (Abnormal libido)\n", + " \n", + " \n", + " Any deviation from the normal sexual drive or desire for sexual activity.\n", + " definition of HP:0031845 (Abnormal libido)\n", + " \n", + " \n", + " Slow decrease in visual acuity\n", + " definition of HP:0007924 (Slow decrease in visual acuity)\n", + " \n", + " \n", + " #Slow decrease in sharpness of vision #Subacute deterioration of visual acuity\n", + " definition of HP:0007924 (Slow decrease in visual acuity)\n", + " \n", + " \n", + " Curved proximal phalanx of the 3rd finger\n", + " definition of HP:0009452 (Curved proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Curved appearance of the proximal phalanx of the 3rd finger.\n", + " definition of HP:0009452 (Curved proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Curved innermost bone of middle finger\n", + " definition of HP:0009452 (Curved proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Abnormality of the radioulnar joints\n", + " definition of HP:0003059 (Abnormality of the radioulnar joints)\n", + " \n", + " \n", + " Neonatal focal clonic seizure\n", + " definition of HP:0032818 (Neonatal focal clonic seizure)\n", + " \n", + " \n", + " Neonatal focal clonic seizure is a type of neonatal electro-clinical clonic seizure where the predominant motor feature is unilateral regularly repeating jerking involving the same muscle groups.\n", + " definition of HP:0032818 (Neonatal focal clonic seizure)\n", + " \n", + " \n", + " Gastric diverticulum\n", + " definition of HP:0100808 (Gastric diverticulum)\n", + " \n", + " \n", + " An outpouching of the gastric wall.\n", + " definition of HP:0100808 (Gastric diverticulum)\n", + " \n", + " \n", + " #Stomach diverticulum\n", + " definition of HP:0100808 (Gastric diverticulum)\n", + " \n", + " \n", + " Ganglioglioma\n", + " definition of HP:0033664 (Ganglioglioma)\n", + " \n", + " \n", + " Gangliogliomas are rare tumors of the central nervous system. The are WHO grade I and considered low grade. They are well differentiated neuroepithelial tumors consisting of both dysplastic neuronal and neoplastic glial cells.\n", + " definition of HP:0033664 (Ganglioglioma)\n", + " \n", + " \n", + " Premature epimetaphyseal fusion in ulna\n", + " definition of HP:0012567 (Premature epimetaphyseal fusion in ulna)\n", + " \n", + " \n", + " Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the ulna, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.\n", + " definition of HP:0012567 (Premature epimetaphyseal fusion in ulna)\n", + " \n", + " \n", + " Increased fucosylation of O-linked protein glycosylation\n", + " definition of HP:0012361 (Increased fucosylation of O-linked protein glycosylation)\n", + " \n", + " \n", + " Increased addition of fucose sugar units to O-linked glycans.\n", + " definition of HP:0012361 (Increased fucosylation of O-linked protein glycosylation)\n", + " \n", + " \n", + " Internuclear ophthalmoplegia\n", + " definition of HP:0030773 (Internuclear ophthalmoplegia)\n", + " \n", + " \n", + " An abnormality of conjugate lateral gaze in which the affected eye shows impairment of adduction. The pathognomonic clinical sign of internuclear ophthalmoplegia is an impaired adduction while testing horizontal saccades on the side of the lesion in the ipsilateral medial longitudinal fascicule.\n", + " definition of HP:0030773 (Internuclear ophthalmoplegia)\n", + " \n", + " \n", + " Short fetal humerus length\n", + " definition of HP:0011429 (Short fetal humerus length)\n", + " \n", + " \n", + " A short humerus length is defined as a length below the 2.5th percentile for gestational age or as a measurement less than 0.9 of that predicted by the measured biparietal diameter. The humerus should be measured with the bone perpendicular to the ultrasound beam and with epiphyseal cartilages visible but not included in the measurement (PMID:16100637).\n", + " definition of HP:0011429 (Short fetal humerus length)\n", + " \n", + " \n", + " #Short fetal long bone in upper arm length #Short foetal humerus length #Short foetal long bone in upper arm length\n", + " definition of HP:0011429 (Short fetal humerus length)\n", + " \n", + " \n", + " Blocked Eustachian tube\n", + " definition of HP:0040269 (Blocked Eustachian tube)\n", + " \n", + " \n", + " #Obstruction of Eustachian tube\n", + " definition of HP:0040269 (Blocked Eustachian tube)\n", + " \n", + " \n", + " Muscle fiber inclusion bodies\n", + " definition of HP:0100299 (Muscle fiber inclusion bodies)\n", + " \n", + " \n", + " #Muscle fibre inclusion bodies\n", + " definition of HP:0100299 (Muscle fiber inclusion bodies)\n", + " \n", + " \n", + " Constricted iliac wing\n", + " definition of HP:0003277 (Constricted iliac wing)\n", + " \n", + " \n", + " #Constricted iliac wings\n", + " definition of HP:0003277 (Constricted iliac wing)\n", + " \n", + " \n", + " Anti-annexin-V antibody positivity\n", + " definition of HP:0034101 (Anti-annexin-V antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against annexin-V.\n", + " definition of HP:0034101 (Anti-annexin-V antibody positivity)\n", + " \n", + " \n", + " Occupational exposure history\n", + " definition of HP:0035010 (Occupational exposure history)\n", + " \n", + " \n", + " Exposure to a substance that results from the performance of an employee's duties.\n", + " definition of HP:0035010 (Occupational exposure history)\n", + " \n", + " \n", + " Pulmonic stenosis\n", + " definition of HP:0001642 (Pulmonic stenosis)\n", + " \n", + " \n", + " A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).\n", + " definition of HP:0001642 (Pulmonic stenosis)\n", + " \n", + " \n", + " #Narrowing of pulmonic valve #Pulmonary stenosis #Pulmonary valve stenosis #Pulmonic valve stenosis\n", + " definition of HP:0001642 (Pulmonic stenosis)\n", + " \n", + " \n", + " Biconcave flattened vertebrae\n", + " definition of HP:0003321 (Biconcave flattened vertebrae)\n", + " \n", + " \n", + " Abnormal great auricular nerve morphology\n", + " definition of HP:3000048 (Abnormal great auricular nerve morphology)\n", + " \n", + " \n", + " Any structural anomaly of a great auricular nerve.\n", + " definition of HP:3000048 (Abnormal great auricular nerve morphology)\n", + " \n", + " \n", + " U wave inversion\n", + " definition of HP:0025071 (U wave inversion)\n", + " \n", + " \n", + " Direction of the U wave opposite to the T wave (i.e., below baseline) in leads with upright T waves.\n", + " definition of HP:0025071 (U wave inversion)\n", + " \n", + " \n", + " Tracheal bronchus\n", + " definition of HP:0033614 (Tracheal bronchus)\n", + " \n", + " \n", + " Aberrant or accessory bronchus supplying the upper lobe originating from the lateral wall of the trachea. The tracheal bronchus is more commonly right-sided, has a variable length and may be blind-ended. Two common types of tracheal bronchus are: supernumerary and displaced.\n", + " definition of HP:0033614 (Tracheal bronchus)\n", + " \n", + " \n", + " Hypoalaninemia\n", + " definition of HP:0500154 (Hypoalaninemia)\n", + " \n", + " \n", + " A decreased amount of alanine in the blood.\n", + " definition of HP:0500154 (Hypoalaninemia)\n", + " \n", + " \n", + " #Decreased blood alanine concentration #Low blood alanine levels\n", + " definition of HP:0500154 (Hypoalaninemia)\n", + " \n", + " \n", + " Congenital onychodystrophy\n", + " definition of HP:0008394 (Congenital onychodystrophy)\n", + " \n", + " \n", + " Ochronosis\n", + " definition of HP:0030764 (Ochronosis)\n", + " \n", + " \n", + " Brown or blue-gray discoloration of the skin that can present on the axillary and inguinal areas, face, palms or soles. In addition, blue-black discoloration can be apparent on skin overlying cartilage in which the pigment is deposited, such as the ears. This is a characteristic manifestation of alkaptonuria, which is an autosomal recessively inherited deficiency of homogentisic acid oxidase that results in accumulation of homogentisic acid in collagenous structures. The sclerae are also typically involved.\n", + " definition of HP:0030764 (Ochronosis)\n", + " \n", + " \n", + " #Ochronotic arthritis\n", + " definition of HP:0030764 (Ochronosis)\n", + " \n", + " \n", + " Perisylvian polymicrogyria\n", + " definition of HP:0012650 (Perisylvian polymicrogyria)\n", + " \n", + " \n", + " Polymicrogyria (an excessive number of small gyri or convolutions) that is maximal in perisylvian regions (the regions that surround the Sylvian fissures), which may be symmetric or asymmetric and may extend beyond perisylvian regions. The Sylvian fissures often extend posteriorly and superiorly.\n", + " definition of HP:0012650 (Perisylvian polymicrogyria)\n", + " \n", + " \n", + " #Frontoparietal polymicrogyria\n", + " definition of HP:0012650 (Perisylvian polymicrogyria)\n", + " \n", + " \n", + " Pneumonia\n", + " definition of HP:0002090 (Pneumonia)\n", + " \n", + " \n", + " Inflammation of any part of the lung parenchyma.\n", + " definition of HP:0002090 (Pneumonia)\n", + " \n", + " \n", + " #Pneumonia\n", + " definition of HP:0002090 (Pneumonia)\n", + " \n", + " \n", + " Lacrimal gland hypoplasia\n", + " definition of HP:0007732 (Lacrimal gland hypoplasia)\n", + " \n", + " \n", + " Underdevelopment of the lacrimal gland.\n", + " definition of HP:0007732 (Lacrimal gland hypoplasia)\n", + " \n", + " \n", + " #Hypoplastic lacrimal gland #Underdeveloped tear gland\n", + " definition of HP:0007732 (Lacrimal gland hypoplasia)\n", + " \n", + " \n", + " Irregular P-P interval\n", + " definition of HP:6001087 (Irregular P-P interval)\n", + " \n", + " \n", + " Abnormally increased variability in the timing between consecutive P-waves on an electrocardiogram.\n", + " definition of HP:6001087 (Irregular P-P interval)\n", + " \n", + " \n", + " Erythroid hyperplasia\n", + " definition of HP:0012132 (Erythroid hyperplasia)\n", + " \n", + " \n", + " Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.\n", + " definition of HP:0012132 (Erythroid hyperplasia)\n", + " \n", + " \n", + " Fragmentation of the epiphyses of the 2nd finger\n", + " definition of HP:0009492 (Fragmentation of the epiphyses of the 2nd finger)\n", + " \n", + " \n", + " Fragmented appearance of the epiphyses of the 2nd finger.\n", + " definition of HP:0009492 (Fragmentation of the epiphyses of the 2nd finger)\n", + " \n", + " \n", + " #Fragmentation of end part of the index finger\n", + " definition of HP:0009492 (Fragmentation of the epiphyses of the 2nd finger)\n", + " \n", + " \n", + " Pontine T2 hypointensity\n", + " definition of HP:4000169 (Pontine T2 hypointensity)\n", + " \n", + " \n", + " A darker than expected T2 signal on magnetic resonance imaging (MRI) of the pons.\n", + " definition of HP:4000169 (Pontine T2 hypointensity)\n", + " \n", + " \n", + " Abnormal inferior oblique muscle physiology\n", + " definition of HP:0025596 (Abnormal inferior oblique muscle physiology)\n", + " \n", + " \n", + " A functional anomaly of the inferior oblique muscle, an extraocular muscle that has its origin on the maxillary bone just posterior to the inferior medial orbital rim and lateral to the nasolacrimal canal and that is innervated by the inferior branch of the oculomotor nerve.\n", + " definition of HP:0025596 (Abnormal inferior oblique muscle physiology)\n", + " \n", + " \n", + " Abnormal renal tubular lumen morphology\n", + " definition of HP:0032950 (Abnormal renal tubular lumen morphology)\n", + " \n", + " \n", + " Abnormal structure or form of the lumen (opening) of kidney tubules.\n", + " definition of HP:0032950 (Abnormal renal tubular lumen morphology)\n", + " \n", + " \n", + " #Abnormal renal tubular luminal morphology\n", + " definition of HP:0032950 (Abnormal renal tubular lumen morphology)\n", + " \n", + " \n", + " Parietal hypometabolism in FDG PET\n", + " definition of HP:0012662 (Parietal hypometabolism in FDG PET)\n", + " \n", + " \n", + " Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the parietal cortex as measured by positron emission tomography (PET) brain scan.\n", + " definition of HP:0012662 (Parietal hypometabolism in FDG PET)\n", + " \n", + " \n", + " Aplasia/Hypoplasia involving the carpal bones\n", + " definition of HP:0006502 (Aplasia/Hypoplasia involving the carpal bones)\n", + " \n", + " \n", + " Absence or underdevelopment of the carpal bones.\n", + " definition of HP:0006502 (Aplasia/Hypoplasia involving the carpal bones)\n", + " \n", + " \n", + " #Absent/small wrist bones #Absent/underdeveloped wrist bones\n", + " definition of HP:0006502 (Aplasia/Hypoplasia involving the carpal bones)\n", + " \n", + " \n", + " Agenesis of permanent mandibular central incisor\n", + " definition of HP:0011048 (Agenesis of permanent mandibular central incisor)\n", + " \n", + " \n", + " Agenesis of lower secondary incisor.\n", + " definition of HP:0011048 (Agenesis of permanent mandibular central incisor)\n", + " \n", + " \n", + " #Agenesis of adult mandibular central incisor #Failure of development of permanent mandibular central incisor\n", + " definition of HP:0011048 (Agenesis of permanent mandibular central incisor)\n", + " \n", + " \n", + " Thromboembolic stroke\n", + " definition of HP:0001727 (Thromboembolic stroke)\n", + " \n", + " \n", + " A cerebrovascular accident (stroke) that occurs because of thromboembolism.\n", + " definition of HP:0001727 (Thromboembolic stroke)\n", + " \n", + " \n", + " Computed tomographic halo sign\n", + " definition of HP:0032971 (Computed tomographic halo sign)\n", + " \n", + " \n", + " CT finding of ground-glass opacity surrounding a nodule or mass. It was first described as a sign of hemorrhage around foci of invasive aspergillosis. The halo sign is nonspecific and may also be caused by hemorrhage associated with other types of nodules or by local pulmonary infiltration by neoplasm.\n", + " definition of HP:0032971 (Computed tomographic halo sign)\n", + " \n", + " \n", + " #CT halo sign\n", + " definition of HP:0032971 (Computed tomographic halo sign)\n", + " \n", + " \n", + " Broad metacarpal epiphyses\n", + " definition of HP:0006146 (Broad metacarpal epiphyses)\n", + " \n", + " \n", + " Increased side-to-side width of the metacarpal epiphyses.\n", + " definition of HP:0006146 (Broad metacarpal epiphyses)\n", + " \n", + " \n", + " #Broad end part of long bone of hand\n", + " definition of HP:0006146 (Broad metacarpal epiphyses)\n", + " \n", + " \n", + " Asymmetry of the position of the ears\n", + " definition of HP:0040093 (Asymmetry of the position of the ears)\n", + " \n", + " \n", + " Plantar hyperkeratosis\n", + " definition of HP:0007556 (Plantar hyperkeratosis)\n", + " \n", + " \n", + " Hyperkeratosis affecting the sole of the foot.\n", + " definition of HP:0007556 (Plantar hyperkeratosis)\n", + " \n", + " \n", + " #Plantar hyperkeratoses\n", + " definition of HP:0007556 (Plantar hyperkeratosis)\n", + " \n", + " \n", + " Irregular epiphysis of the distal phalanx of the 5th finger\n", + " definition of HP:0009167 (Irregular epiphysis of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " Irregular radiographic opacity of the epiphysis of the distal phalanx of the 5th finger.\n", + " definition of HP:0009167 (Irregular epiphysis of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " #Irregular end part of the outermost bone of little finger #Irregular end part of the outermost bone of pinkie finger #Irregular end part of the outermost bone of pinky finger\n", + " definition of HP:0009167 (Irregular epiphysis of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " Supravalvar pulmonary stenosis\n", + " definition of HP:0034349 (Supravalvar pulmonary stenosis)\n", + " \n", + " \n", + " A cardiovascular malformation associated with narrowing at the level of the pulmonary sinotubular junction above the pulmonic valve.\n", + " definition of HP:0034349 (Supravalvar pulmonary stenosis)\n", + " \n", + " \n", + " #Supravalvar pulmonnic stenosis #Supravalvular pulmonary stenosis #Supravalvular pulmonic stenosis\n", + " definition of HP:0034349 (Supravalvar pulmonary stenosis)\n", + " \n", + " \n", + " Spermatogonial maturation arrest\n", + " definition of HP:4000187 (Spermatogonial maturation arrest)\n", + " \n", + " \n", + " A type of spermatogenesis maturation arrest in which the block of developmental occurs in the spermatogonial stage. Testicular histology shows seminiferous tubules with Sertoli cells and spermatogonial cells but no further differentiated cells like spermatocytes or round spermatids.\n", + " definition of HP:4000187 (Spermatogonial maturation arrest)\n", + " \n", + " \n", + " #Spermatogonial arrest\n", + " definition of HP:4000187 (Spermatogonial maturation arrest)\n", + " \n", + " \n", + " Decreased small intestinal mucosa lactase level\n", + " definition of HP:0025130 (Decreased small intestinal mucosa lactase level)\n", + " \n", + " \n", + " Lactase is produced in the small intestine in humans, Lactase is a member of the beta-galactosidase family of enzymes, and hydrolyzes D-lactose to form D-galactose and D-glucose, which can be absorbed by the small intestine. There are many ways of assessing lactase activity. In one test, an endoscopic biopsy from the postbulbar duodenum is incubated with lactose on a test plate, and a color reaction develops within 20 min as a result of hydrolyzed lactose (a positive result) in patients with normolactasia, whereas no reaction (a negative result) develops in patients with severe hypolactasia. Other, less direct, tests include the hydrogen breath test, and blood tests following lactose challenges.\n", + " definition of HP:0025130 (Decreased small intestinal mucosa lactase level)\n", + " \n", + " \n", + " #Lactase deficiency\n", + " definition of HP:0025130 (Decreased small intestinal mucosa lactase level)\n", + " \n", + " \n", + " Impaired mastication\n", + " definition of HP:0005216 (Impaired mastication)\n", + " \n", + " \n", + " An abnormal reduction in the ability to masticate (chew), i.e., in the ability to crush and ground food in preparation for swallowing.\n", + " definition of HP:0005216 (Impaired mastication)\n", + " \n", + " \n", + " #Chewing difficulties #Chewing difficulty #Difficulty chewing\n", + " definition of HP:0005216 (Impaired mastication)\n", + " \n", + " \n", + " Ivory epiphyses of the distal phalanges of the hand\n", + " definition of HP:0010252 (Ivory epiphyses of the distal phalanges of the hand)\n", + " \n", + " \n", + " Distal epiphyses of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.\n", + " definition of HP:0010252 (Ivory epiphyses of the distal phalanges of the hand)\n", + " \n", + " \n", + " #Eburnated epiphyses of distal phalanges #Increased bone density of end part of the outermost hand bones\n", + " definition of HP:0010252 (Ivory epiphyses of the distal phalanges of the hand)\n", + " \n", + " \n", + " Central apnea\n", + " definition of HP:0002871 (Central apnea)\n", + " \n", + " \n", + " Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow.\n", + " definition of HP:0002871 (Central apnea)\n", + " \n", + " \n", + " #Central apnoea\n", + " definition of HP:0002871 (Central apnea)\n", + " \n", + " \n", + " Abnormal fifth cranial nerve physiology\n", + " definition of HP:0031911 (Abnormal fifth cranial nerve physiology)\n", + " \n", + " \n", + " Facial nerve compression\n", + " definition of HP:6000411 (Facial nerve compression)\n", + " \n", + " \n", + " Impingement of another object such as a blood vessel upon the facial nerve, causing it to lose volume in the compressed region.\n", + " definition of HP:6000411 (Facial nerve compression)\n", + " \n", + " \n", + " #Compression of seventh cranial nerve\n", + " definition of HP:6000411 (Facial nerve compression)\n", + " \n", + " \n", + " Impaired task monitoring\n", + " definition of HP:0033071 (Impaired task monitoring)\n", + " \n", + " \n", + " Impaired ability to keep track of one's problem-solving success or failure, and to identify and correct mistakes during performance of a goal.\n", + " definition of HP:0033071 (Impaired task monitoring)\n", + " \n", + " \n", + " Triangular epiphysis of the distal phalanx of the thumb\n", + " definition of HP:0009685 (Triangular epiphysis of the distal phalanx of the thumb)\n", + " \n", + " \n", + " A triangular appearance of the epiphysis of the distal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.\n", + " definition of HP:0009685 (Triangular epiphysis of the distal phalanx of the thumb)\n", + " \n", + " \n", + " #Triangular end part of thumb outermost bone #Triangular epiphysis of the outermost bone of the thumb\n", + " definition of HP:0009685 (Triangular epiphysis of the distal phalanx of the thumb)\n", + " \n", + " \n", + " Increased urinary potassium\n", + " definition of HP:0003081 (Increased urinary potassium)\n", + " \n", + " \n", + " An increased concentration of potassium(1+) in the urine.\n", + " definition of HP:0003081 (Increased urinary potassium)\n", + " \n", + " \n", + " #Hyperkaliuresis #Increased urinary K #Increased urinary potassium\n", + " definition of HP:0003081 (Increased urinary potassium)\n", + " \n", + " \n", + " Neonatal bilateral asymmetric myoclonic seizure\n", + " definition of HP:0032832 (Neonatal bilateral asymmetric myoclonic seizure)\n", + " \n", + " \n", + " Neonatal bilateral asymmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) that occurs at both sides of the body asymmetrically.\n", + " definition of HP:0032832 (Neonatal bilateral asymmetric myoclonic seizure)\n", + " \n", + " \n", + " Palmoplantar cutis laxa\n", + " definition of HP:0007517 (Palmoplantar cutis laxa)\n", + " \n", + " \n", + " Loose, wrinkled skin of hands and feet.\n", + " definition of HP:0007517 (Palmoplantar cutis laxa)\n", + " \n", + " \n", + " #Excessive wrinkled skin of palms and soles #Furrowed palms and soles #Increased wrinkles of palms and soles #Wrinkled palms and soles #Wrinkled skin of hands and feet\n", + " definition of HP:0007517 (Palmoplantar cutis laxa)\n", + " \n", + " \n", + " Libman-Sacks lesions\n", + " definition of HP:0011714 (Libman-Sacks lesions)\n", + " \n", + " \n", + " Libman-Sacks valvular lesions are sterile fibrofibrinous vegetations that favor the left-sided heart valves and usually form on the ventricular surface of the mitral valve.\n", + " definition of HP:0011714 (Libman-Sacks lesions)\n", + " \n", + " \n", + " Abnormal morphology of the proximal phalanx of the 2nd toe\n", + " definition of HP:0010358 (Abnormal morphology of the proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Abnormality of the innermost bone of the 2nd toe\n", + " definition of HP:0010358 (Abnormal morphology of the proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Anti-multiple nuclear dots antibody positivity\n", + " definition of HP:0025353 (Anti-multiple nuclear dots antibody positivity)\n", + " \n", + " \n", + " A type of antinuclear antibody (ANA) positivity revealed by indirect immunofluorescence (IFL). The multiple nuclear dots (MND) pattern is immunomorphologically characterized by the staining of 3-20 dots of variable size distributed all over the cell nucleus, but sparing the nucleoli, and, in contrast to the anticentromere pattern, MND reactivity does not stain the chromosomes in mitotic cells.\n", + " definition of HP:0025353 (Anti-multiple nuclear dots antibody positivity)\n", + " \n", + " \n", + " #Anti-MND antibodies\n", + " definition of HP:0025353 (Anti-multiple nuclear dots antibody positivity)\n", + " \n", + " \n", + " Phthisis bulbi\n", + " definition of HP:0000667 (Phthisis bulbi)\n", + " \n", + " \n", + " Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease.\n", + " definition of HP:0000667 (Phthisis bulbi)\n", + " \n", + " \n", + " Optic atrophy\n", + " definition of HP:0000648 (Optic atrophy)\n", + " \n", + " \n", + " Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.\n", + " definition of HP:0000648 (Optic atrophy)\n", + " \n", + " \n", + " #Optic nerve atrophy #Optic-nerve degeneration\n", + " definition of HP:0000648 (Optic atrophy)\n", + " \n", + " \n", + " Decreased high-mannose N-glycan level\n", + " definition of HP:0410358 (Decreased high-mannose N-glycan level)\n", + " \n", + " \n", + " An abnormal decrease in the concentration of high-mannose N-glycans on glycoproteins.\n", + " definition of HP:0410358 (Decreased high-mannose N-glycan level)\n", + " \n", + " \n", + " #Decreased high-mannose N-glycans on glycoprotein concentration\n", + " definition of HP:0410358 (Decreased high-mannose N-glycan level)\n", + " \n", + " \n", + " Imperforate hymen\n", + " definition of HP:0030011 (Imperforate hymen)\n", + " \n", + " \n", + " A congenital disorder where the hymen (a membrane that surrounds or partially covers the external vaginal opening) does not have an opening and completely obstructs the vagina.\n", + " definition of HP:0030011 (Imperforate hymen)\n", + " \n", + " \n", + " Positive synovial mycobacterial culture\n", + " definition of HP:6000734 (Positive synovial mycobacterial culture)\n", + " \n", + " \n", + " Growth of a mycobacteria in a culture derived from synovial fluid.\n", + " definition of HP:6000734 (Positive synovial mycobacterial culture)\n", + " \n", + " \n", + " Paroxysmal ventricular tachycardia\n", + " definition of HP:0004751 (Paroxysmal ventricular tachycardia)\n", + " \n", + " \n", + " Episodes of ventricular tachycardia that have a sudden onset and ending.\n", + " definition of HP:0004751 (Paroxysmal ventricular tachycardia)\n", + " \n", + " \n", + " #Episodes of ventricular tachycardia\n", + " definition of HP:0004751 (Paroxysmal ventricular tachycardia)\n", + " \n", + " \n", + " Abnormality of the epiphysis of the proximal phalanx of the 2nd finger\n", + " definition of HP:0009501 (Abnormality of the epiphysis of the proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Epiphyseal abnormality of the proximal phalanx of the 2nd finger\n", + " definition of HP:0009501 (Abnormality of the epiphysis of the proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Bracket epiphyses of the proximal phalanges of the hand\n", + " definition of HP:0010269 (Bracket epiphyses of the proximal phalanges of the hand)\n", + " \n", + " \n", + " An abnormality of the proximal phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.\n", + " definition of HP:0010269 (Bracket epiphyses of the proximal phalanges of the hand)\n", + " \n", + " \n", + " #Bracket shaped end part of the innermost hand bones\n", + " definition of HP:0010269 (Bracket epiphyses of the proximal phalanges of the hand)\n", + " \n", + " \n", + " Abnormality of the integument\n", + " definition of HP:0001574 (Abnormality of the integument)\n", + " \n", + " \n", + " An abnormality of the integument, which consists of the skin and the superficial fascia.\n", + " definition of HP:0001574 (Abnormality of the integument)\n", + " \n", + " \n", + " Hepatic failure\n", + " definition of HP:0001399 (Hepatic failure)\n", + " \n", + " \n", + " #Liver failure\n", + " definition of HP:0001399 (Hepatic failure)\n", + " \n", + " \n", + " Recurrent abscess formation\n", + " definition of HP:0002722 (Recurrent abscess formation)\n", + " \n", + " \n", + " An increased susceptibility to abscess formation, as manifested by a medical history of recurrent abscesses.\n", + " definition of HP:0002722 (Recurrent abscess formation)\n", + " \n", + " \n", + " Aortic root aneurysm\n", + " definition of HP:0002616 (Aortic root aneurysm)\n", + " \n", + " \n", + " An abnormal localized widening (dilatation) of the aortic root.\n", + " definition of HP:0002616 (Aortic root aneurysm)\n", + " \n", + " \n", + " #Bulge in wall of root of large artery that carries blood away from heart #Enlarged aortic root #Increased aortic root diameter\n", + " definition of HP:0002616 (Aortic root aneurysm)\n", + " \n", + " \n", + " Low voltage EEG\n", + " definition of HP:0011181 (Low voltage EEG)\n", + " \n", + " \n", + " EEG with an amplitude less than 30 microvolts without observable occipital alpha rhythm (8-13 Hz).\n", + " definition of HP:0011181 (Low voltage EEG)\n", + " \n", + " \n", + " Foveal depigmentation\n", + " definition of HP:0500088 (Foveal depigmentation)\n", + " \n", + " \n", + " Loss of pigment in the fovea centralis.\n", + " definition of HP:0500088 (Foveal depigmentation)\n", + " \n", + " \n", + " Cicatricial lagophthalmos\n", + " definition of HP:0030004 (Cicatricial lagophthalmos)\n", + " \n", + " \n", + " A type of lagophthalmos that occurs following trauma or surgery.\n", + " definition of HP:0030004 (Cicatricial lagophthalmos)\n", + " \n", + " \n", + " #Eyelids stay open due to scarring #Inability to close the eyelids due to scarring\n", + " definition of HP:0030004 (Cicatricial lagophthalmos)\n", + " \n", + " \n", + " Limbal edema\n", + " definition of HP:0025349 (Limbal edema)\n", + " \n", + " \n", + " Swelling of the margin of the cornea overlapped by the sclera.\n", + " definition of HP:0025349 (Limbal edema)\n", + " \n", + " \n", + " #Limbal oedema\n", + " definition of HP:0025349 (Limbal edema)\n", + " \n", + " \n", + " Decreased mitochondrial complex III activity in liver tissue\n", + " definition of HP:0006558 (Decreased mitochondrial complex III activity in liver tissue)\n", + " \n", + " \n", + " Decreased activity of complex III of the mitochondrion in the liver.\n", + " definition of HP:0006558 (Decreased mitochondrial complex III activity in liver tissue)\n", + " \n", + " \n", + " Phenylalaninuria\n", + " definition of HP:0032351 (Phenylalaninuria)\n", + " \n", + " \n", + " Increased level of phenylalanine in urine.\n", + " definition of HP:0032351 (Phenylalaninuria)\n", + " \n", + " \n", + " #Increased level of phenylalanine in urine\n", + " definition of HP:0032351 (Phenylalaninuria)\n", + " \n", + " \n", + " Sclerosis of the middle phalanx of the 4th finger\n", + " definition of HP:0100906 (Sclerosis of the middle phalanx of the 4th finger)\n", + " \n", + " \n", + " #Increased bone density in the middle bone of the ring finger\n", + " definition of HP:0100906 (Sclerosis of the middle phalanx of the 4th finger)\n", + " \n", + " \n", + " Hyperactive deep tendon reflexes\n", + " definition of HP:0006801 (Hyperactive deep tendon reflexes)\n", + " \n", + " \n", + " Bilateral tonic-clonic seizure on awakening\n", + " definition of HP:0007193 (Bilateral tonic-clonic seizure on awakening)\n", + " \n", + " \n", + " Bilateral tonic-clonic seizure of either generalized or focal onset occurring on or soon after wakening (typically within 90 minutes of waking, regardless of the time of day).\n", + " definition of HP:0007193 (Bilateral tonic-clonic seizure on awakening)\n", + " \n", + " \n", + " #Generalised tonic-clonic seizures on awakening #Generalized tonic-clonic seizures on awakening #Morning generalised tonic-clonic seizures #Morning generalized tonic-clonic seizures\n", + " definition of HP:0007193 (Bilateral tonic-clonic seizure on awakening)\n", + " \n", + " \n", + " Impaired thromboxane A2 agonist-induced platelet aggregation\n", + " definition of HP:0011894 (Impaired thromboxane A2 agonist-induced platelet aggregation)\n", + " \n", + " \n", + " Abnormal response to thromboxane as manifested by reduced or lacking aggregation of platelets upon addition of thromboxane A2 receptor agonists.\n", + " definition of HP:0011894 (Impaired thromboxane A2 agonist-induced platelet aggregation)\n", + " \n", + " \n", + " Cholestasis\n", + " definition of HP:0001396 (Cholestasis)\n", + " \n", + " \n", + " Impairment of bile flow due to obstruction in bile ducts.\n", + " definition of HP:0001396 (Cholestasis)\n", + " \n", + " \n", + " #Slowed or blocked flow of bile from liver\n", + " definition of HP:0001396 (Cholestasis)\n", + " \n", + " \n", + " Anti-Lrp4 antibody positivity\n", + " definition of HP:5000046 (Anti-Lrp4 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against low-density lipoprotein receptor (Lrp4).\n", + " definition of HP:5000046 (Anti-Lrp4 antibody positivity)\n", + " \n", + " \n", + " #Anti-low-density lipoprotein receptor-related protein 4 antibody\n", + " definition of HP:5000046 (Anti-Lrp4 antibody positivity)\n", + " \n", + " \n", + " Duodenitis\n", + " definition of HP:0033117 (Duodenitis)\n", + " \n", + " \n", + " Inflammation of the lining of the upper small intestine (duodenum).\n", + " definition of HP:0033117 (Duodenitis)\n", + " \n", + " \n", + " #Duodenal inflammation\n", + " definition of HP:0033117 (Duodenitis)\n", + " \n", + " \n", + " Positive skin fungus test\n", + " definition of HP:0430118 (Positive skin fungus test)\n", + " \n", + " \n", + " A test for fungus, e.g., fungal hyphae, in a skin specimen (usually a skin scraping), demonstrates the presence of fungi. Most commonly, a skin scraping is obtained using a small scalpel blade, the specimen is placed on a clean glass slide, a drop of potassium hydroxide (KOH) is added, and the specimen is examined microscopically for fungal structures such as hyphae or yeast.\n", + " definition of HP:0430118 (Positive skin fungus test)\n", + " \n", + " \n", + " #Positive KOH test for fungi\n", + " definition of HP:0430118 (Positive skin fungus test)\n", + " \n", + " \n", + " Abnormal circulating polysaccharide concentration\n", + " definition of HP:0011012 (Abnormal circulating polysaccharide concentration)\n", + " \n", + " \n", + " A deviation from the normal concentration of a polysaccharide in the blood circulation.\n", + " definition of HP:0011012 (Abnormal circulating polysaccharide concentration)\n", + " \n", + " \n", + " Pulmonary arterial hypertension with lack of acute response to NO challenge\n", + " definition of HP:0033424 (Pulmonary arterial hypertension with lack of acute response to NO challenge)\n", + " \n", + " \n", + " A form of pulmonary arterial hypertension with lack of adequate hemodynamic response to NO challenge (adequate response is defined as a reduction of mean pulmonary artery pressure (mPAP) of at least 10 mmHg to reach an absolute value of mPAP 40 mmHg or less with an increased or unchanged cardiac output (CO) in response to inhaled nitric oxide at 10-20 ppm).\n", + " definition of HP:0033424 (Pulmonary arterial hypertension with lack of acute response to NO challenge)\n", + " \n", + " \n", + " Elevated circulating 27-hydroxycholesterol concentration\n", + " definition of HP:6000402 (Elevated circulating 27-hydroxycholesterol concentration)\n", + " \n", + " \n", + " The concentration of 27-hydroxycholesterol in the blood circulation is above the upper limit of normal.\n", + " definition of HP:6000402 (Elevated circulating 27-hydroxycholesterol concentration)\n", + " \n", + " \n", + " Hyperchromic macrocytic anemia\n", + " definition of HP:0004857 (Hyperchromic macrocytic anemia)\n", + " \n", + " \n", + " A type of anemia characterized by abnormally large erythrocytes with abnormally high amounts of hemoglobin.\n", + " definition of HP:0004857 (Hyperchromic macrocytic anemia)\n", + " \n", + " \n", + " #Hyperchromic macrocytic anaemia\n", + " definition of HP:0004857 (Hyperchromic macrocytic anemia)\n", + " \n", + " \n", + " Reduced number of intrahepatic bile ducts\n", + " definition of HP:0006571 (Reduced number of intrahepatic bile ducts)\n", + " \n", + " \n", + " The presence of reduced numbers of intrahepatic bile duct than normal.\n", + " definition of HP:0006571 (Reduced number of intrahepatic bile ducts)\n", + " \n", + " \n", + " #Hepatic ductopenia\n", + " definition of HP:0006571 (Reduced number of intrahepatic bile ducts)\n", + " \n", + " \n", + " Muscle arteriovenous malformation\n", + " definition of HP:6000586 (Muscle arteriovenous malformation)\n", + " \n", + " \n", + " An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in muscle tissue.\n", + " definition of HP:6000586 (Muscle arteriovenous malformation)\n", + " \n", + " \n", + " #Arteriovenous malformation in muscle #Muscle AVM\n", + " definition of HP:6000586 (Muscle arteriovenous malformation)\n", + " \n", + " \n", + " Abnormal interpretation of external stimuli\n", + " definition of HP:5200202 (Abnormal interpretation of external stimuli)\n", + " \n", + " \n", + " Abnormal perception of reality is characterized by an abnormal or inaccurate experience of external stimuli.\n", + " definition of HP:5200202 (Abnormal interpretation of external stimuli)\n", + " \n", + " \n", + " Unilateral radial aplasia\n", + " definition of HP:0011908 (Unilateral radial aplasia)\n", + " \n", + " \n", + " Missing radius bone on one side only associated with congenital failure of development.\n", + " definition of HP:0011908 (Unilateral radial aplasia)\n", + " \n", + " \n", + " Erectile dysfunction\n", + " definition of HP:0100639 (Erectile dysfunction)\n", + " \n", + " \n", + " A multidimensional but common male sexual dysfunction that involves an alteration in any of the components of the erectile response, including organic, relational and psychological.\n", + " definition of HP:0100639 (Erectile dysfunction)\n", + " \n", + " \n", + " #Abnormal erection #Erectile abnormalities\n", + " definition of HP:0100639 (Erectile dysfunction)\n", + " \n", + " \n", + " Hypoplastic carotid canal\n", + " definition of HP:0032045 (Hypoplastic carotid canal)\n", + " \n", + " \n", + " Underdevelopment of the carotid canal, which normally is a circular aperture in the temporal bone of the skull through which the internal carotid artery and the carotid plexus of nerves traverse.\n", + " definition of HP:0032045 (Hypoplastic carotid canal)\n", + " \n", + " \n", + " Abnormal CSF tryptophan concentration\n", + " definition of HP:0500218 (Abnormal CSF tryptophan concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of tryptophan in the cerebrospinal fluid.\n", + " definition of HP:0500218 (Abnormal CSF tryptophan concentration)\n", + " \n", + " \n", + " #Abnormal tryptophan levels in cerebrospinal fluid\n", + " definition of HP:0500218 (Abnormal CSF tryptophan concentration)\n", + " \n", + " \n", + " Abnormal caudate nucleus morphology\n", + " definition of HP:0002339 (Abnormal caudate nucleus morphology)\n", + " \n", + " \n", + " Any structural abnormality of the caudate nucleus.\n", + " definition of HP:0002339 (Abnormal caudate nucleus morphology)\n", + " \n", + " \n", + " #Abnormality of the caudate nucleus\n", + " definition of HP:0002339 (Abnormal caudate nucleus morphology)\n", + " \n", + " \n", + " Oval macrocytosis\n", + " definition of HP:0032566 (Oval macrocytosis)\n", + " \n", + " \n", + " Enlarged, oval-shaped erythrocytes (red blood cells).\n", + " definition of HP:0032566 (Oval macrocytosis)\n", + " \n", + " \n", + " Laryngeal dystonia\n", + " definition of HP:0012049 (Laryngeal dystonia)\n", + " \n", + " \n", + " A form of focal dystonia that affects the vocal cords, associated with involuntary contractions of the vocal cords causing interruptions of speech and affecting the voice quality and often leading to patterned, repeated breaks in speech.\n", + " definition of HP:0012049 (Laryngeal dystonia)\n", + " \n", + " \n", + " #Spasmodic dysphonia\n", + " definition of HP:0012049 (Laryngeal dystonia)\n", + " \n", + " \n", + " Progressive joint destruction\n", + " definition of HP:0005187 (Progressive joint destruction)\n", + " \n", + " \n", + " Corneal amyloidosis\n", + " definition of HP:0034701 (Corneal amyloidosis)\n", + " \n", + " \n", + " A form of amyloidosis that is located in the cornea.\n", + " definition of HP:0034701 (Corneal amyloidosis)\n", + " \n", + " \n", + " Abnormal ventriculoarterial connection\n", + " definition of HP:0011563 (Abnormal ventriculoarterial connection)\n", + " \n", + " \n", + " An abnormality of the circulatory connection between the ventricles and the pulmonary artery and aorta.\n", + " definition of HP:0011563 (Abnormal ventriculoarterial connection)\n", + " \n", + " \n", + " #Abnormal ventriculo-arterial connection #Abnormal ventriculoarterial connexion\n", + " definition of HP:0011563 (Abnormal ventriculoarterial connection)\n", + " \n", + " \n", + " Eccrine syringofibroadenoma\n", + " definition of HP:0031018 (Eccrine syringofibroadenoma)\n", + " \n", + " \n", + " Eccrine syringofibroadenoma (ESFA) is a benign adnexal tumor arising most often on the extremities of elderly individuals characterized by anastomosing cords of cuboidal epithelial cells surrounded by a fibrovascular stroma containing plasma cells and ductal structures. ESFA stains positively with epithelial membrane antigen (EMA) and carcinoembryonic antigen (CEA).\n", + " definition of HP:0031018 (Eccrine syringofibroadenoma)\n", + " \n", + " \n", + " #Acrosyringeal adenomatosis #Eccrine syringofibroadenomatous hyperplasia #Syringofibroadenoma\n", + " definition of HP:0031018 (Eccrine syringofibroadenoma)\n", + " \n", + " \n", + " Abnormality of venous physiology\n", + " definition of HP:0030846 (Abnormality of venous physiology)\n", + " \n", + " \n", + " An anomaly of venous function.\n", + " definition of HP:0030846 (Abnormality of venous physiology)\n", + " \n", + " \n", + " 2-3 finger osseus syndactyly\n", + " definition of HP:0025770 (2-3 finger osseus syndactyly)\n", + " \n", + " \n", + " Aplasia of the musculature of the pelvis\n", + " definition of HP:0500024 (Aplasia of the musculature of the pelvis)\n", + " \n", + " \n", + " Absence of the musculature of the pelvis.\n", + " definition of HP:0500024 (Aplasia of the musculature of the pelvis)\n", + " \n", + " \n", + " Spontaneous rupture of the globe\n", + " definition of HP:0010727 (Spontaneous rupture of the globe)\n", + " \n", + " \n", + " Rupture of the eyeball not due to trauma.\n", + " definition of HP:0010727 (Spontaneous rupture of the globe)\n", + " \n", + " \n", + " Presacral teratoma\n", + " definition of HP:0009793 (Presacral teratoma)\n", + " \n", + " \n", + " A type of sacrococcygeal teratoma located anterior to the sacrum and entirely inside the body (Altman type IV).\n", + " definition of HP:0009793 (Presacral teratoma)\n", + " \n", + " \n", + " #Altman type IV sacrococcygeal teratoma #Retrorectal teratoma\n", + " definition of HP:0009793 (Presacral teratoma)\n", + " \n", + " \n", + " Decreased proportion of CD4+CD25+ regulatory T cells\n", + " definition of HP:0020113 (Decreased proportion of CD4+CD25+ regulatory T cells)\n", + " \n", + " \n", + " An abnormally decreased proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells.\n", + " definition of HP:0020113 (Decreased proportion of CD4+CD25+ regulatory T cells)\n", + " \n", + " \n", + " #Decreased proportion of CD4+CD25+ Treg cells #Reduced proportion of CD4+CD25+ regulatory T cells\n", + " definition of HP:0020113 (Decreased proportion of CD4+CD25+ regulatory T cells)\n", + " \n", + " \n", + " Fractured distal phalanx of manual digit 4\n", + " definition of HP:0041178 (Fractured distal phalanx of manual digit 4)\n", + " \n", + " \n", + " A partial or complete breakage of the distal phalanx of manual digit 4.\n", + " definition of HP:0041178 (Fractured distal phalanx of manual digit 4)\n", + " \n", + " \n", + " #bone distal phalanx of manual digit 4\n", + " definition of HP:0041178 (Fractured distal phalanx of manual digit 4)\n", + " \n", + " \n", + " Alopecia of scalp\n", + " definition of HP:0002293 (Alopecia of scalp)\n", + " \n", + " \n", + " #Pathologic hair loss from scalp #Scalp hair loss\n", + " definition of HP:0002293 (Alopecia of scalp)\n", + " \n", + " \n", + " Stillbirth\n", + " definition of HP:0003826 (Stillbirth)\n", + " \n", + " \n", + " Death of the fetus in utero after at least 22 weeks of gestation.\n", + " definition of HP:0003826 (Stillbirth)\n", + " \n", + " \n", + " #Late fetal death #Late foetal death #Stillbirth #Stillborn\n", + " definition of HP:0003826 (Stillbirth)\n", + " \n", + " \n", + " Unifocal splenic abscess\n", + " definition of HP:0025061 (Unifocal splenic abscess)\n", + " \n", + " \n", + " Single (solitary) abscess in the spleen.\n", + " definition of HP:0025061 (Unifocal splenic abscess)\n", + " \n", + " \n", + " #Solitary splenic abscess #Unilocular splenic abscess\n", + " definition of HP:0025061 (Unifocal splenic abscess)\n", + " \n", + " \n", + " Diminished glomerular basement membrane collagen IV alpha 4 chain staining\n", + " definition of HP:6001028 (Diminished glomerular basement membrane collagen IV alpha 4 chain staining)\n", + " \n", + " \n", + " Abnormal reduction in the amount of the alpha 4 chain of collagen IV in the basement membrane of the glomeruli of the kidney.\n", + " definition of HP:6001028 (Diminished glomerular basement membrane collagen IV alpha 4 chain staining)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the middle phalanx of the 4th toe\n", + " definition of HP:0100373 (Aplasia/Hypoplasia of the middle phalanx of the 4th toe)\n", + " \n", + " \n", + " #Absent/small middle bone of the 4th toe #Absent/underdeveloped middle bone of the 4th toe\n", + " definition of HP:0100373 (Aplasia/Hypoplasia of the middle phalanx of the 4th toe)\n", + " \n", + " \n", + " Chronic partially decreased circulating IgG2\n", + " definition of HP:0041066 (Chronic partially decreased circulating IgG2)\n", + " \n", + " \n", + " A lasting limited decrease of immunoglobulin G2 (IgG2) in the blood.\n", + " definition of HP:0041066 (Chronic partially decreased circulating IgG2)\n", + " \n", + " \n", + " #Chronic partially decreased IgG2 in blood\n", + " definition of HP:0041066 (Chronic partially decreased circulating IgG2)\n", + " \n", + " \n", + " Sensory neuropathy\n", + " definition of HP:0000763 (Sensory neuropathy)\n", + " \n", + " \n", + " Peripheral neuropathy affecting the sensory nerves.\n", + " definition of HP:0000763 (Sensory neuropathy)\n", + " \n", + " \n", + " #Damage to nerves that sense feeling #Peripheral sensory neuropathy\n", + " definition of HP:0000763 (Sensory neuropathy)\n", + " \n", + " \n", + " Abnormal circulating 7-dehydrocholesterol concentration\n", + " definition of HP:0034934 (Abnormal circulating 7-dehydrocholesterol concentration)\n", + " \n", + " \n", + " Concentration of 7-dehydrocholesterol in the blood circulation outside the limits of normal.\n", + " definition of HP:0034934 (Abnormal circulating 7-dehydrocholesterol concentration)\n", + " \n", + " \n", + " Dissociation\n", + " definition of HP:0032940 (Dissociation)\n", + " \n", + " \n", + " Disruption or detachment of certain aspects of one's normal psychological functioning typically involves a disconnection or separation from thoughts, feelings, sensations, memories, or one's sense of identity or reality.\n", + " definition of HP:0032940 (Dissociation)\n", + " \n", + " \n", + " #Dissociative reaction\n", + " definition of HP:0032940 (Dissociation)\n", + " \n", + " \n", + " Duplication of the proximal phalanx of the thumb\n", + " definition of HP:0009613 (Duplication of the proximal phalanx of the thumb)\n", + " \n", + " \n", + " Complete or partial duplication of the proximal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.\n", + " definition of HP:0009613 (Duplication of the proximal phalanx of the thumb)\n", + " \n", + " \n", + " #Notched innermost bone of thumb #Partial/complete duplication of the proximal phalanx of the thumb\n", + " definition of HP:0009613 (Duplication of the proximal phalanx of the thumb)\n", + " \n", + " \n", + " Increased corneal curvature\n", + " definition of HP:0100692 (Increased corneal curvature)\n", + " \n", + " \n", + " An increase in the degree of curvature of the cornea compared to normal.\n", + " definition of HP:0100692 (Increased corneal curvature)\n", + " \n", + " \n", + " #Steep corneal curvature\n", + " definition of HP:0100692 (Increased corneal curvature)\n", + " \n", + " \n", + " Abnormal fontanelle morphology\n", + " definition of HP:0011328 (Abnormal fontanelle morphology)\n", + " \n", + " \n", + " An abnormality of the fontanelle.\n", + " definition of HP:0011328 (Abnormal fontanelle morphology)\n", + " \n", + " \n", + " Esophageal web\n", + " definition of HP:0100594 (Esophageal web)\n", + " \n", + " \n", + " Thin (2-3mm) membranes of normal esophageal tissue consisting of mucosa and submucosa that can be congenital or acquired. Congenital webs commonly appear in the middle and inferior third of the esophagus, and they are more likely to be circumferential with a central or eccentric orifice. Acquired webs are much more common than congenital webs and typically appear in the cervical area (postcricoid). Clinical symptoms of this condition are selective (solid more than liquids) dysphagia, thoracic pain, nasopharyngeal reflux, aspiration, perforation and food impaction (the last two are very rare).\n", + " definition of HP:0100594 (Esophageal web)\n", + " \n", + " \n", + " Hypertension associated with pheochromocytoma\n", + " definition of HP:0002640 (Hypertension associated with pheochromocytoma)\n", + " \n", + " \n", + " A type of hypertension associated with pheochromocytoma.\n", + " definition of HP:0002640 (Hypertension associated with pheochromocytoma)\n", + " \n", + " \n", + " Deviation of the 4th finger\n", + " definition of HP:0009273 (Deviation of the 4th finger)\n", + " \n", + " \n", + " Displacement of the 4th finger from its normal position.\n", + " definition of HP:0009273 (Deviation of the 4th finger)\n", + " \n", + " \n", + " #Deviation of the ring finger\n", + " definition of HP:0009273 (Deviation of the 4th finger)\n", + " \n", + " \n", + " Nodular septal thickening on pulmonary HRCT\n", + " definition of HP:0025173 (Nodular septal thickening on pulmonary HRCT)\n", + " \n", + " \n", + " Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with a nodular or beaded appearance of the interlobular septa.\n", + " definition of HP:0025173 (Nodular septal thickening on pulmonary HRCT)\n", + " \n", + " \n", + " Modic type vertebral endplate changes\n", + " definition of HP:0030775 (Modic type vertebral endplate changes)\n", + " \n", + " \n", + " An abnormal magnetic resonance tomography signal from a vertebral endplate according to a widely used classification published by Dr. Michael Modic.\n", + " definition of HP:0030775 (Modic type vertebral endplate changes)\n", + " \n", + " \n", + " Focal aware cognitive seizure\n", + " definition of HP:0032681 (Focal aware cognitive seizure)\n", + " \n", + " \n", + " A focal aware cognitive seizure during which awareness is retained throughout the seizure.\n", + " definition of HP:0032681 (Focal aware cognitive seizure)\n", + " \n", + " \n", + " Hip joint hypermobility\n", + " definition of HP:0045087 (Hip joint hypermobility)\n", + " \n", + " \n", + " Dermatoglyphic variants\n", + " definition of HP:0005882 (Dermatoglyphic variants)\n", + " \n", + " \n", + " Oral mucosal blisters\n", + " definition of HP:0200097 (Oral mucosal blisters)\n", + " \n", + " \n", + " Blisters arising in the mouth.\n", + " definition of HP:0200097 (Oral mucosal blisters)\n", + " \n", + " \n", + " #Blebs of oral mucosa #Blisters of mouth #Bullae of oral mucosa #Oral blistering #Oral mucosal blisters\n", + " definition of HP:0200097 (Oral mucosal blisters)\n", + " \n", + " \n", + " Addictive opioid use\n", + " definition of HP:0033515 (Addictive opioid use)\n", + " \n", + " \n", + " Addiction to opioids.\n", + " definition of HP:0033515 (Addictive opioid use)\n", + " \n", + " \n", + " #Opioid addiction #Opioid dependence\n", + " definition of HP:0033515 (Addictive opioid use)\n", + " \n", + " \n", + " Exacerbated by amiodarone exposure\n", + " definition of HP:0034962 (Exacerbated by amiodarone exposure)\n", + " \n", + " \n", + " Applied to a sign or symptom that is worsened by treatment with amiodarone.\n", + " definition of HP:0034962 (Exacerbated by amiodarone exposure)\n", + " \n", + " \n", + " Aggression towards caregivers\n", + " definition of HP:5200126 (Aggression towards caregivers)\n", + " \n", + " \n", + " Aggression that is directed towards caregivers.\n", + " definition of HP:5200126 (Aggression towards caregivers)\n", + " \n", + " \n", + " Abnormality of the middle phalanx of the 4th finger\n", + " definition of HP:0009283 (Abnormality of the middle phalanx of the 4th finger)\n", + " \n", + " \n", + " #Abnormal middle bone of ring finger #Abnormality of the middle phalanx of the ring finger\n", + " definition of HP:0009283 (Abnormality of the middle phalanx of the 4th finger)\n", + " \n", + " \n", + " Hypothalamic hamartoma\n", + " definition of HP:0002444 (Hypothalamic hamartoma)\n", + " \n", + " \n", + " The presence of a hamartoma of the hypothalamus.\n", + " definition of HP:0002444 (Hypothalamic hamartoma)\n", + " \n", + " \n", + " Elevated right atrial pressure\n", + " definition of HP:0005168 (Elevated right atrial pressure)\n", + " \n", + " \n", + " An abnormal increase in magnitude of the pressure in the right atrium.\n", + " definition of HP:0005168 (Elevated right atrial pressure)\n", + " \n", + " \n", + " Falciform retinal fold\n", + " definition of HP:0001493 (Falciform retinal fold)\n", + " \n", + " \n", + " An area of the retina that is buckled so that a sector-shaped sheet of retina lies in front of the normal retina. This feature is of congenital onset.\n", + " definition of HP:0001493 (Falciform retinal fold)\n", + " \n", + " \n", + " #Congenital retinal fold\n", + " definition of HP:0001493 (Falciform retinal fold)\n", + " \n", + " \n", + " Renal tubular viral cytopathic changes\n", + " definition of HP:0032951 (Renal tubular viral cytopathic changes)\n", + " \n", + " \n", + " Viral cytopathic changes consist of smudgy basophilic intranuclear inclusions with enlarged nuclei of infected cells. Distal tubules are more commonly involved than proximal tubules. There is associated acute tubular injury, often with frank tubular necrosis and destruction, with acute interstitial nephritis, often with a pleomorphic infiltrate composed of lymphocytes, histiocytes, plasma cells, and variable numbers of neutrophils, with interstitial edema and hemorrhage. Tubular destruction may be associated with necrotizing interstitial granulomas. Severe granulomatous tubulointerstitial nephritis appears to be characteristic of adenoviral infection and is quite rare in other viral infections. Focal wedge-shaped necrosis may occur in renal parenchyma. Immunostaining for adenovirus shows strong nuclear and cytoplasmic staining in infected cells.\n", + " definition of HP:0032951 (Renal tubular viral cytopathic changes)\n", + " \n", + " \n", + " Vaginal pyocele\n", + " definition of HP:0100675 (Vaginal pyocele)\n", + " \n", + " \n", + " Calcification of cartilage\n", + " definition of HP:0100593 (Calcification of cartilage)\n", + " \n", + " \n", + " The presence of calcium deposition in cartilage.\n", + " definition of HP:0100593 (Calcification of cartilage)\n", + " \n", + " \n", + " Reduced OCT-measured macular thickness\n", + " definition of HP:0030607 (Reduced OCT-measured macular thickness)\n", + " \n", + " \n", + " Deep philtrum\n", + " definition of HP:0002002 (Deep philtrum)\n", + " \n", + " \n", + " Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border.\n", + " definition of HP:0002002 (Deep philtrum)\n", + " \n", + " \n", + " #Increased depth of philtrum #Philtrum, deep #Prominent philtrum #Pronounced philtrum\n", + " definition of HP:0002002 (Deep philtrum)\n", + " \n", + " \n", + " Irregular epiphysis of the proximal phalanx of the 5th toe\n", + " definition of HP:0100229 (Irregular epiphysis of the proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " #Irregular end part of the innermost bone of the little toe #Irregular end part of the innermost bone of the pinkie toe #Irregular end part of the innermost bone of the pinky toe\n", + " definition of HP:0100229 (Irregular epiphysis of the proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " Abnormal muscle fiber lamin A/C\n", + " definition of HP:0030123 (Abnormal muscle fiber lamin A/C)\n", + " \n", + " \n", + " A deviation from the normal amount of lamin A/C in muscle tissue. The LMNA gene gives rise to at least three splicing isoforms including the two main isoforms, lamin A and lamin C. These are constitutive components of the fibrous nuclear lamina and have different roles, ranging from mechanical nuclear membrane maintenance to gene regulation.\n", + " definition of HP:0030123 (Abnormal muscle fiber lamin A/C)\n", + " \n", + " \n", + " #Abnormal muscle fibre lamin A/C\n", + " definition of HP:0030123 (Abnormal muscle fiber lamin A/C)\n", + " \n", + " \n", + " Sclerosis of foot bone\n", + " definition of HP:0100925 (Sclerosis of foot bone)\n", + " \n", + " \n", + " An elevation in bone density in one or more foot bones. Sclerosis is normally detected on a radiograph as an area of increased opacity.\n", + " definition of HP:0100925 (Sclerosis of foot bone)\n", + " \n", + " \n", + " #Increased bone density in foot bone #Sclerosis of bones of the feet\n", + " definition of HP:0100925 (Sclerosis of foot bone)\n", + " \n", + " \n", + " Anti-LGI1 antibody\n", + " definition of HP:5000020 (Anti-LGI1 antibody)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against leucine-rich glioma-inactivated 1 (LGI1).\n", + " definition of HP:5000020 (Anti-LGI1 antibody)\n", + " \n", + " \n", + " #Anti-Anti-leucine-rich glioma-inactivated 1 antibody\n", + " definition of HP:5000020 (Anti-LGI1 antibody)\n", + " \n", + " \n", + " Lymph node necrosis\n", + " definition of HP:4000149 (Lymph node necrosis)\n", + " \n", + " \n", + " Areas of necrotic tissue within a lymph node.\n", + " definition of HP:4000149 (Lymph node necrosis)\n", + " \n", + " \n", + " #Necrosis in lymph node\n", + " definition of HP:4000149 (Lymph node necrosis)\n", + " \n", + " \n", + " Transient decreased circulating total IgG\n", + " definition of HP:0032133 (Transient decreased circulating total IgG)\n", + " \n", + " \n", + " A temporary reduction beneath the normal level of total immunoglobulin G (IgG) in the blood.\n", + " definition of HP:0032133 (Transient decreased circulating total IgG)\n", + " \n", + " \n", + " Osteolytic defect of the distal phalanx of the thumb\n", + " definition of HP:0009645 (Osteolytic defect of the distal phalanx of the thumb)\n", + " \n", + " \n", + " Dissolution or degeneration of bone tissue of the distal phalanx of the thumb.\n", + " definition of HP:0009645 (Osteolytic defect of the distal phalanx of the thumb)\n", + " \n", + " \n", + " #Osteolytic defects of the distal phalanx of the thumb #Osteolytic defects of the outermost bone of the thumb\n", + " definition of HP:0009645 (Osteolytic defect of the distal phalanx of the thumb)\n", + " \n", + " \n", + " Decreased circulating C1q concentration\n", + " definition of HP:0034601 (Decreased circulating C1q concentration)\n", + " \n", + " \n", + " Concentration or activity of the C1q protein in the blood circulation below the lower limit of normal. C1q is the first component of the classical pathway and is composed of the C1qA chain, C1qB chain, and C1qC chain, which are encoded by C1qA, C1qB, and C1qC genes.\n", + " definition of HP:0034601 (Decreased circulating C1q concentration)\n", + " \n", + " \n", + " Synostosis involving the elbow\n", + " definition of HP:0003938 (Synostosis involving the elbow)\n", + " \n", + " \n", + " #Bone fusion involving the elbow\n", + " definition of HP:0003938 (Synostosis involving the elbow)\n", + " \n", + " \n", + " Testicular ischemia\n", + " definition of HP:0033403 (Testicular ischemia)\n", + " \n", + " \n", + " Restriction of arterial blood supply to a testis associated with insufficient oxygenation to support the metabolic requirements of the tissue. Clinical manifestations may include pain and swelling of the affected testis.\n", + " definition of HP:0033403 (Testicular ischemia)\n", + " \n", + " \n", + " Congenital Horner syndrome\n", + " definition of HP:0006837 (Congenital Horner syndrome)\n", + " \n", + " \n", + " A type of Horner syndrome with congenital onset.\n", + " definition of HP:0006837 (Congenital Horner syndrome)\n", + " \n", + " \n", + " Chin with vertical crease\n", + " definition of HP:0400001 (Chin with vertical crease)\n", + " \n", + " \n", + " Vertical crease fold situated below the vermilion border of the lower lip and above the fatty pad of the chin with the face at rest.\n", + " definition of HP:0400001 (Chin with vertical crease)\n", + " \n", + " \n", + " #Chin with vertical crease #Chin with vertical furrow #Chin with vertical groove #Chin with vertical sulcus #Chin, vertical crease #Cleft chin #Vertical chin skin cleft #Vertical menton crease\n", + " definition of HP:0400001 (Chin with vertical crease)\n", + " \n", + " \n", + " Ileoileal intussusception\n", + " definition of HP:0033309 (Ileoileal intussusception)\n", + " \n", + " \n", + " A type of intussusception of the small intestine in which one part of the ileum invaginates (telescopes) into another part of the ileum.\n", + " definition of HP:0033309 (Ileoileal intussusception)\n", + " \n", + " \n", + " Bowman capsular hyaline drops\n", + " definition of HP:0033226 (Bowman capsular hyaline drops)\n", + " \n", + " \n", + " An insudative accumulation of amorphous, eosinophilic, periodic acid-Schiff (PAS)-positive, silver-negative material protruding from Bowman's capsule into the urinary space. Although not always evident by light microscopy, this material is located between Bowman's capsule and the parietal epithelial cells, in some cases associated with newly formed matrix material.\n", + " definition of HP:0033226 (Bowman capsular hyaline drops)\n", + " \n", + " \n", + " #Capsular hyaline drops within Bowman's capsule\n", + " definition of HP:0033226 (Bowman capsular hyaline drops)\n", + " \n", + " \n", + " Abnormal lysosomal morphology\n", + " definition of HP:0031340 (Abnormal lysosomal morphology)\n", + " \n", + " \n", + " A structural anomaly of lysosomes, membrane-enclosed organelles that contain an array of enzymes capable of catabolizing proteins, nucleic acids, carbohydrates, and lipids.\n", + " definition of HP:0031340 (Abnormal lysosomal morphology)\n", + " \n", + " \n", + " Palmar hyperhidrosis\n", + " definition of HP:0006089 (Palmar hyperhidrosis)\n", + " \n", + " \n", + " #Excessive sweating of hands\n", + " definition of HP:0006089 (Palmar hyperhidrosis)\n", + " \n", + " \n", + " Abnormal morphology of the pelvis musculature\n", + " definition of HP:0001469 (Abnormal morphology of the pelvis musculature)\n", + " \n", + " \n", + " #Abnormality of the musculature of the pelvis\n", + " definition of HP:0001469 (Abnormal morphology of the pelvis musculature)\n", + " \n", + " \n", + " Complex palmar dermatoglyphic pattern\n", + " definition of HP:0007602 (Complex palmar dermatoglyphic pattern)\n", + " \n", + " \n", + " Fetal neck mass\n", + " definition of HP:0034240 (Fetal neck mass)\n", + " \n", + " \n", + " An abnormal growth (lump) of tissue in the neck region of a fetus. Masses may be simple cystic,, cystic with a few simple septations (fewer than three septations and less than 3-mm thick), cystic with multiple or thick septations (greater than three septations or septations 3-mm-thick or more), a mass that is than is less than 50% solid, and a mass that is 50% solid or more.\n", + " definition of HP:0034240 (Fetal neck mass)\n", + " \n", + " \n", + " Reduced quantity of Von Willebrand factor\n", + " definition of HP:0012147 (Reduced quantity of Von Willebrand factor)\n", + " \n", + " \n", + " Decreased quantity of von Willebrand factor.\n", + " definition of HP:0012147 (Reduced quantity of Von Willebrand factor)\n", + " \n", + " \n", + " Abnormal hip joint morphology\n", + " definition of HP:0001384 (Abnormal hip joint morphology)\n", + " \n", + " \n", + " An abnormality of the hip joint.\n", + " definition of HP:0001384 (Abnormal hip joint morphology)\n", + " \n", + " \n", + " #Abnormality of the hip joint\n", + " definition of HP:0001384 (Abnormal hip joint morphology)\n", + " \n", + " \n", + " Fetal cerebellar vermis hemorrhage\n", + " definition of HP:0034216 (Fetal cerebellar vermis hemorrhage)\n", + " \n", + " \n", + " A type of fetal intracranial hemorrhage that occurs in the vermis of the cerebellum.\n", + " definition of HP:0034216 (Fetal cerebellar vermis hemorrhage)\n", + " \n", + " \n", + " Medullary peritubular capillary erythrocyte congestion\n", + " definition of HP:0033866 (Medullary peritubular capillary erythrocyte congestion)\n", + " \n", + " \n", + " Substantially increased numbers of red blood cells within capillaries surrounding tubules in the medulla of the kidney. This feature is assessed in histological images as the presence of numerous erythrocytes in a segment of the capillary such that the vessel appears to be congested (not open).\n", + " definition of HP:0033866 (Medullary peritubular capillary erythrocyte congestion)\n", + " \n", + " \n", + " Paradoxical insomnia\n", + " definition of HP:5200305 (Paradoxical insomnia)\n", + " \n", + " \n", + " Paradoxical insomnia is a condition in which individuals with a normal or near-normal sleep macrostructure tend to severely underestimate the quantity and quality of their sleep.\n", + " definition of HP:5200305 (Paradoxical insomnia)\n", + " \n", + " \n", + " #Disturbance in perception related to sleep #Sleep misperception #Sleep state misperception\n", + " definition of HP:5200305 (Paradoxical insomnia)\n", + " \n", + " \n", + " Metacarpal pseudoepiphysis\n", + " definition of HP:0009193 (Metacarpal pseudoepiphysis)\n", + " \n", + " \n", + " A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis. The normal metacarpal epiphyses are located at the distal ends of the metacarpal bones. Accessory epiphyses (which are also known as pseudoepiphyses) can also occasionally be observed at the proximal ends of the metacarpals, usually involving the 2nd metacarpal bone.\n", + " definition of HP:0009193 (Metacarpal pseudoepiphysis)\n", + " \n", + " \n", + " #Accessory proximal metacarpal ossification centers #Accessory proximal metacarpal ossification centres #Metacarpal pseudoepiphyses #Pseudoepiphyses of the metacarpals\n", + " definition of HP:0009193 (Metacarpal pseudoepiphysis)\n", + " \n", + " \n", + " Physiological reactivity to cues\n", + " definition of HP:0032939 (Physiological reactivity to cues)\n", + " \n", + " \n", + " Marked physiological reactions to internal or external cues that symbolize or resemble an aspect of the traumatic event(s).\n", + " definition of HP:0032939 (Physiological reactivity to cues)\n", + " \n", + " \n", + " Lateral neck mass\n", + " definition of HP:6000174 (Lateral neck mass)\n", + " \n", + " \n", + " An abnormal enlargement or swelling localized to the side of the neck. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.\n", + " definition of HP:6000174 (Lateral neck mass)\n", + " \n", + " \n", + " Abnormal nasal base norphology\n", + " definition of HP:0012808 (Abnormal nasal base norphology)\n", + " \n", + " \n", + " An anomaly of the nasal base, which can be conceived of as an imaginary line between the most lateral points of the external inferior attachments of the alae nasi to the face.\n", + " definition of HP:0012808 (Abnormal nasal base norphology)\n", + " \n", + " \n", + " #Abnormal nasal base #Abnormality of base of nose #Anomaly of base of nose #Anomaly of nasal base\n", + " definition of HP:0012808 (Abnormal nasal base norphology)\n", + " \n", + " \n", + " Ground glass opacity of humeral diaphysis\n", + " definition of HP:0003929 (Ground glass opacity of humeral diaphysis)\n", + " \n", + " \n", + " Abnormal clavicle morphology\n", + " definition of HP:0000889 (Abnormal clavicle morphology)\n", + " \n", + " \n", + " Any abnormality of the clavicles (collar bones).\n", + " definition of HP:0000889 (Abnormal clavicle morphology)\n", + " \n", + " \n", + " #Abnormal clavicles #Abnormal collarbone #Abnormality of the clavicle\n", + " definition of HP:0000889 (Abnormal clavicle morphology)\n", + " \n", + " \n", + " Segmental peripheral demyelination/remyelination\n", + " definition of HP:0003481 (Segmental peripheral demyelination/remyelination)\n", + " \n", + " \n", + " A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves.\n", + " definition of HP:0003481 (Segmental peripheral demyelination/remyelination)\n", + " \n", + " \n", + " #Segmental demyelination/remyelination\n", + " definition of HP:0003481 (Segmental peripheral demyelination/remyelination)\n", + " \n", + " \n", + " Cleft lip\n", + " definition of HP:0410030 (Cleft lip)\n", + " \n", + " \n", + " A gap in the lip or lips.\n", + " definition of HP:0410030 (Cleft lip)\n", + " \n", + " \n", + " #Cleft lip #Cleft of the lip\n", + " definition of HP:0410030 (Cleft lip)\n", + " \n", + " \n", + " Exudative retinopathy\n", + " definition of HP:0007898 (Exudative retinopathy)\n", + " \n", + " \n", + " Speech apraxia\n", + " definition of HP:0011098 (Speech apraxia)\n", + " \n", + " \n", + " A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur.\n", + " definition of HP:0011098 (Speech apraxia)\n", + " \n", + " \n", + " #Apraxia of speech #Verbal dyspraxia\n", + " definition of HP:0011098 (Speech apraxia)\n", + " \n", + " \n", + " Very rare\n", + " definition of HP:0040284 (Very rare)\n", + " \n", + " \n", + " Present in 1% to 4% of the cases.\n", + " definition of HP:0040284 (Very rare)\n", + " \n", + " \n", + " #Very rare (&lt;4-1%) #Very rare (<4-1%)\n", + " definition of HP:0040284 (Very rare)\n", + " \n", + " \n", + " Triangular shaped phalanges of the 2nd finger\n", + " definition of HP:0009546 (Triangular shaped phalanges of the 2nd finger)\n", + " \n", + " \n", + " Triangular shaped phalanges of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.\n", + " definition of HP:0009546 (Triangular shaped phalanges of the 2nd finger)\n", + " \n", + " \n", + " #Triangular bones of index finger #Triangular index finger phalanges\n", + " definition of HP:0009546 (Triangular shaped phalanges of the 2nd finger)\n", + " \n", + " \n", + " Broad distal phalanx of the 2nd toe\n", + " definition of HP:0010414 (Broad distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Broad outermost bone of the 2nd toe #Wide outermost bone of the 2nd toe\n", + " definition of HP:0010414 (Broad distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Paroxysmal rectal pain\n", + " definition of HP:0032150 (Paroxysmal rectal pain)\n", + " \n", + " \n", + " Excruciating burning pain in the rectal area that may be triggered by defecation.\n", + " definition of HP:0032150 (Paroxysmal rectal pain)\n", + " \n", + " \n", + " Recent foraged mushroom consumption\n", + " definition of HP:6000304 (Recent foraged mushroom consumption)\n", + " \n", + " \n", + " Medical history of recently eating wild mushrooms.\n", + " definition of HP:6000304 (Recent foraged mushroom consumption)\n", + " \n", + " \n", + " Duplication of the distal phalanx of the 5th finger\n", + " definition of HP:0009988 (Duplication of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " Partial or complete duplication of the distal phalanx of little finger.\n", + " definition of HP:0009988 (Duplication of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " #Duplication of the outermost little finger bone #Duplication of the outermost pinkie finger bone #Duplication of the outermost pinky finger bone #Partial/complete duplication of the distal phalanx of the 5th finger\n", + " definition of HP:0009988 (Duplication of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " Focal aware cognitive seizure with deja vu/jamais vu\n", + " definition of HP:0032883 (Focal aware cognitive seizure with deja vu/jamais vu)\n", + " \n", + " \n", + " A focal cognitive seizure with deja vu / jamais vu characterized by retained awareness throughout the seizure.\n", + " definition of HP:0032883 (Focal aware cognitive seizure with deja vu/jamais vu)\n", + " \n", + " \n", + " Delayed pneumatization of the mastoid process\n", + " definition of HP:0005906 (Delayed pneumatization of the mastoid process)\n", + " \n", + " \n", + " An abnormally reduced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms.\n", + " definition of HP:0005906 (Delayed pneumatization of the mastoid process)\n", + " \n", + " \n", + " #Mastoid processes poorly pneumatized\n", + " definition of HP:0005906 (Delayed pneumatization of the mastoid process)\n", + " \n", + " \n", + " Thymoma\n", + " definition of HP:0100522 (Thymoma)\n", + " \n", + " \n", + " A tumor originating from the epithelial cells of the thymus.\n", + " definition of HP:0100522 (Thymoma)\n", + " \n", + " \n", + " 10-minute APGAR score of 0\n", + " definition of HP:0033468 (10-minute APGAR score of 0)\n", + " \n", + " \n", + " Frontotemporal dementia\n", + " definition of HP:0002145 (Frontotemporal dementia)\n", + " \n", + " \n", + " A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders.\n", + " definition of HP:0002145 (Frontotemporal dementia)\n", + " \n", + " \n", + " Hemangioma\n", + " definition of HP:0001028 (Hemangioma)\n", + " \n", + " \n", + " A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma).\n", + " definition of HP:0001028 (Hemangioma)\n", + " \n", + " \n", + " #Strawberry mark\n", + " definition of HP:0001028 (Hemangioma)\n", + " \n", + " \n", + " Caput medusae\n", + " definition of HP:0025203 (Caput medusae)\n", + " \n", + " \n", + " Distended and engorged umbilical veins which are seen radiating from the umbilicus across the abdomen to join systemic veins.\n", + " definition of HP:0025203 (Caput medusae)\n", + " \n", + " \n", + " #Palm tree sign\n", + " definition of HP:0025203 (Caput medusae)\n", + " \n", + " \n", + " Undermodeled humerus\n", + " definition of HP:0003885 (Undermodeled humerus)\n", + " \n", + " \n", + " Arcuate vein medial/intimal liquefactive necrosis\n", + " definition of HP:0033944 (Arcuate vein medial/intimal liquefactive necrosis)\n", + " \n", + " \n", + " A type of arcuate vein medial/intimal necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized.\n", + " definition of HP:0033944 (Arcuate vein medial/intimal liquefactive necrosis)\n", + " \n", + " \n", + " #Liquefactive necrosis within arcuate vein intima/media\n", + " definition of HP:0033944 (Arcuate vein medial/intimal liquefactive necrosis)\n", + " \n", + " \n", + " Elevated circulating erythritol concentration\n", + " definition of HP:0034614 (Elevated circulating erythritol concentration)\n", + " \n", + " \n", + " Concentration of erythritol in the blood circulation above the upper limit of normal.\n", + " definition of HP:0034614 (Elevated circulating erythritol concentration)\n", + " \n", + " \n", + " #Erythritol high in blood\n", + " definition of HP:0034614 (Elevated circulating erythritol concentration)\n", + " \n", + " \n", + " Abnormal arcuate vein morphology\n", + " definition of HP:0033853 (Abnormal arcuate vein morphology)\n", + " \n", + " \n", + " Any structural anomaly of the arcuate vein. The arcuate veins cross traverse along the corticomedullary junction (at the border of the kideny cortex and medulla).\n", + " definition of HP:0033853 (Abnormal arcuate vein morphology)\n", + " \n", + " \n", + " Gallop rhythm\n", + " definition of HP:0033113 (Gallop rhythm)\n", + " \n", + " \n", + " In the normal heart cycle, two heart sounds can be heard by auscultation per cycle: S1 and S2. A gallop rhythm refers to the presence of three or four heart sounds per cardiac cycle, which is said to resemble the gallop of a horse.\n", + " definition of HP:0033113 (Gallop rhythm)\n", + " \n", + " \n", + " #Triple rhythm\n", + " definition of HP:0033113 (Gallop rhythm)\n", + " \n", + " \n", + " Elevated circulating E selectin level\n", + " definition of HP:0032240 (Elevated circulating E selectin level)\n", + " \n", + " \n", + " An increased concentration of E selectin in the blood circulation.\n", + " definition of HP:0032240 (Elevated circulating E selectin level)\n", + " \n", + " \n", + " Cerebellar vermis hypoplasia\n", + " definition of HP:0001320 (Cerebellar vermis hypoplasia)\n", + " \n", + " \n", + " Underdevelopment of the vermis of cerebellum.\n", + " definition of HP:0001320 (Cerebellar vermis hypoplasia)\n", + " \n", + " \n", + " #Cerebellar vermal hypoplasia #Hypoplasia of the cerebellar vermis #Hypoplastic cerebellar vermis\n", + " definition of HP:0001320 (Cerebellar vermis hypoplasia)\n", + " \n", + " \n", + " Reduced imaginative play skills\n", + " definition of HP:5200105 (Reduced imaginative play skills)\n", + " \n", + " \n", + " Reduced or lack of pretending in play (does not assign abstract properties to objects, use invisible objects, or use objects in nonliteral ways other than their intended purpose in play).\n", + " definition of HP:5200105 (Reduced imaginative play skills)\n", + " \n", + " \n", + " Decreased serum bicarbonate concentration\n", + " definition of HP:0032066 (Decreased serum bicarbonate concentration)\n", + " \n", + " \n", + " An abnormal reduction of the concentration of bicarbonate, HCO3[-], in the circulation.\n", + " definition of HP:0032066 (Decreased serum bicarbonate concentration)\n", + " \n", + " \n", + " #Decreased serum HCO3 concentration\n", + " definition of HP:0032066 (Decreased serum bicarbonate concentration)\n", + " \n", + " \n", + " Decreased adipose tissue around neck\n", + " definition of HP:0005995 (Decreased adipose tissue around neck)\n", + " \n", + " \n", + " Reduced amount of adipose tissue in the region of the neck.\n", + " definition of HP:0005995 (Decreased adipose tissue around neck)\n", + " \n", + " \n", + " #Loss of adipose tissue around the neck #Loss of fat around neck\n", + " definition of HP:0005995 (Decreased adipose tissue around neck)\n", + " \n", + " \n", + " Enamel pearls\n", + " definition of HP:0033776 (Enamel pearls)\n", + " \n", + " \n", + " Small nodules of enamel on the root of a tooth.\n", + " definition of HP:0033776 (Enamel pearls)\n", + " \n", + " \n", + " Triggered by volatile organic compounds\n", + " definition of HP:6000180 (Triggered by volatile organic compounds)\n", + " \n", + " \n", + " Applies to a sign or symptom that is provoked or brought about by exposure to volatile organic compounds (VOCs), which comprise various organic chemicals which are released as gases from different liquids or solids.\n", + " definition of HP:6000180 (Triggered by volatile organic compounds)\n", + " \n", + " \n", + " Pleural empyema\n", + " definition of HP:0011919 (Pleural empyema)\n", + " \n", + " \n", + " Accumulation of pus in the pleural cavity.\n", + " definition of HP:0011919 (Pleural empyema)\n", + " \n", + " \n", + " #Pyothorax\n", + " definition of HP:0011919 (Pleural empyema)\n", + " \n", + " \n", + " Neoplasm of the trachea\n", + " definition of HP:0100551 (Neoplasm of the trachea)\n", + " \n", + " \n", + " A neoplasm of the trachea.\n", + " definition of HP:0100551 (Neoplasm of the trachea)\n", + " \n", + " \n", + " #Tracheal neoplasm\n", + " definition of HP:0100551 (Neoplasm of the trachea)\n", + " \n", + " \n", + " 2--hydroxyphenylacetic aciduria\n", + " definition of HP:6000274 (2--hydroxyphenylacetic aciduria)\n", + " \n", + " \n", + " Increased concentration of 2-hydroxyphenylacetic acid in the urine.\n", + " definition of HP:6000274 (2--hydroxyphenylacetic aciduria)\n", + " \n", + " \n", + " Delayed epiphyseal ossification\n", + " definition of HP:0002663 (Delayed epiphyseal ossification)\n", + " \n", + " \n", + " #Delayed epiphyseal maturation #Delayed opacification of the epiphyses #Epiphyseal ossification delay\n", + " definition of HP:0002663 (Delayed epiphyseal ossification)\n", + " \n", + " \n", + " Exposure to repetive hand impact\n", + " definition of HP:6001106 (Exposure to repetive hand impact)\n", + " \n", + " \n", + " A history of exposure to repetitive impact on palm or hand, such as working with a jackhammer.\n", + " definition of HP:6001106 (Exposure to repetive hand impact)\n", + " \n", + " \n", + " #Use of vibratory tools\n", + " definition of HP:6001106 (Exposure to repetive hand impact)\n", + " \n", + " \n", + " Abnormal hypothalamus physiology\n", + " definition of HP:0012285 (Abnormal hypothalamus physiology)\n", + " \n", + " \n", + " An abnormal functionality of the hypothalamus.\n", + " definition of HP:0012285 (Abnormal hypothalamus physiology)\n", + " \n", + " \n", + " Increased adiponectin level\n", + " definition of HP:0030686 (Increased adiponectin level)\n", + " \n", + " \n", + " An elevated circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue.\n", + " definition of HP:0030686 (Increased adiponectin level)\n", + " \n", + " \n", + " Insulin-resistant diabetes mellitus\n", + " definition of HP:0000831 (Insulin-resistant diabetes mellitus)\n", + " \n", + " \n", + " A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as well as in fasting and postprandial serum insulin levels.\n", + " definition of HP:0000831 (Insulin-resistant diabetes mellitus)\n", + " \n", + " \n", + " #Insulin resistant diabetes #Insulin resistant diabetes mellitus #Insulin-resistant diabetes\n", + " definition of HP:0000831 (Insulin-resistant diabetes mellitus)\n", + " \n", + " \n", + " Tachylalia\n", + " definition of HP:0031937 (Tachylalia)\n", + " \n", + " \n", + " Speech that is abnormally fast as compared to the perceived cultural norm.\n", + " definition of HP:0031937 (Tachylalia)\n", + " \n", + " \n", + " #Fast speech #Tachylogia\n", + " definition of HP:0031937 (Tachylalia)\n", + " \n", + " \n", + " Abnormal circulating immunoglobulin concentration\n", + " definition of HP:0010701 (Abnormal circulating immunoglobulin concentration)\n", + " \n", + " \n", + " An abnormal deviation from normal levels of immunoglobulins in blood.\n", + " definition of HP:0010701 (Abnormal circulating immunoglobulin concentration)\n", + " \n", + " \n", + " #Abnormal immunoglobulin concentration #Abnormal immunoglobulin level #Abnormal serum immunoglobulin concentration #Abnormal serum immunoglobulin levels #Abnormal serum level of immunoglobulin #Immunoglobulin abnormality\n", + " definition of HP:0010701 (Abnormal circulating immunoglobulin concentration)\n", + " \n", + " \n", + " Blepharitis\n", + " definition of HP:0000498 (Blepharitis)\n", + " \n", + " \n", + " Inflammation of the eyelids.\n", + " definition of HP:0000498 (Blepharitis)\n", + " \n", + " \n", + " #Cellulitis of eyelids #Inflammation of eyelids\n", + " definition of HP:0000498 (Blepharitis)\n", + " \n", + " \n", + " Pinhole visual acuity 0.8 LogMAR\n", + " definition of HP:0030576 (Pinhole visual acuity 0.8 LogMAR)\n", + " \n", + " \n", + " Ameliorated by acetazolamide\n", + " definition of HP:0034535 (Ameliorated by acetazolamide)\n", + " \n", + " \n", + " Applies to a sign or symptom that is improved or made more bearable by treatment with acetazolamide.\n", + " definition of HP:0034535 (Ameliorated by acetazolamide)\n", + " \n", + " \n", + " #Acetazolamide relieves attacks\n", + " definition of HP:0034535 (Ameliorated by acetazolamide)\n", + " \n", + " \n", + " Increased hepatic echogenicity\n", + " definition of HP:0031141 (Increased hepatic echogenicity)\n", + " \n", + " \n", + " Increased echogenicity of liver tissue on sonography, manifested as an increased amount of white on the screen of the sonography device.\n", + " definition of HP:0031141 (Increased hepatic echogenicity)\n", + " \n", + " \n", + " #Hyperechogenic liver\n", + " definition of HP:0031141 (Increased hepatic echogenicity)\n", + " \n", + " \n", + " Increased cotinine level\n", + " definition of HP:0410171 (Increased cotinine level)\n", + " \n", + " \n", + " Increased concentration of cotinine in urine.\n", + " definition of HP:0410171 (Increased cotinine level)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the 3rd toe\n", + " definition of HP:0010331 (Aplasia/Hypoplasia of the 3rd toe)\n", + " \n", + " \n", + " #Absent/hypoplastic third toe #Absent/small 3rd toe #Absent/underdeveloped 3rd toe\n", + " definition of HP:0010331 (Aplasia/Hypoplasia of the 3rd toe)\n", + " \n", + " \n", + " Sclerosis of the proximal phalanx of the 5th toe\n", + " definition of HP:0100934 (Sclerosis of the proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " #Increased bone density in the innermost bone of the little toe #Increased bone density in the innermost bone of the pinkie toe #Increased bone density in the innermost bone of the pinky toe\n", + " definition of HP:0100934 (Sclerosis of the proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " Abnormality of the proximal fibular epiphysis\n", + " definition of HP:0010594 (Abnormality of the proximal fibular epiphysis)\n", + " \n", + " \n", + " Any abnormality of the proximal epiphysis of the fibula.\n", + " definition of HP:0010594 (Abnormality of the proximal fibular epiphysis)\n", + " \n", + " \n", + " #Abnormality of the innermost end part of calf bone\n", + " definition of HP:0010594 (Abnormality of the proximal fibular epiphysis)\n", + " \n", + " \n", + " Premature epimetaphyseal fusion\n", + " definition of HP:0010588 (Premature epimetaphyseal fusion)\n", + " \n", + " \n", + " Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at each end of a long bone, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.\n", + " definition of HP:0010588 (Premature epimetaphyseal fusion)\n", + " \n", + " \n", + " #Premature closure of epiphyses\n", + " definition of HP:0010588 (Premature epimetaphyseal fusion)\n", + " \n", + " \n", + " Paroxysmal sneezing\n", + " definition of HP:0025096 (Paroxysmal sneezing)\n", + " \n", + " \n", + " Unprovoked explosive pathological sneezing.\n", + " definition of HP:0025096 (Paroxysmal sneezing)\n", + " \n", + " \n", + " Anti-desmoglein-1 antibody positivity\n", + " definition of HP:4000013 (Anti-desmoglein-1 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against desmoglein-1, a dermal cell adhesion molecule.\n", + " definition of HP:4000013 (Anti-desmoglein-1 antibody positivity)\n", + " \n", + " \n", + " Turricephaly\n", + " definition of HP:0000262 (Turricephaly)\n", + " \n", + " \n", + " Tall head relative to width and length.\n", + " definition of HP:0000262 (Turricephaly)\n", + " \n", + " \n", + " #Tall shaped cranium #Tall shaped skull #Tower cranium shape #Tower skull shape #Turricephalus\n", + " definition of HP:0000262 (Turricephaly)\n", + " \n", + " \n", + " Abnormal tendon morphology\n", + " definition of HP:0100261 (Abnormal tendon morphology)\n", + " \n", + " \n", + " An abnormality of the structure or form of the tendons, also often called sinews.\n", + " definition of HP:0100261 (Abnormal tendon morphology)\n", + " \n", + " \n", + " #Abnormal shape of tendon #Abnormality of the sinew\n", + " definition of HP:0100261 (Abnormal tendon morphology)\n", + " \n", + " \n", + " Complete duplication of the 1st metatarsal\n", + " definition of HP:0010098 (Complete duplication of the 1st metatarsal)\n", + " \n", + " \n", + " A developmental defect consisting in the complete duplication of the first metatarsal bone.\n", + " definition of HP:0010098 (Complete duplication of the 1st metatarsal)\n", + " \n", + " \n", + " #Complete duplication of the 1st long bone of foot\n", + " definition of HP:0010098 (Complete duplication of the 1st metatarsal)\n", + " \n", + " \n", + " Subsolid pulmonary nodule\n", + " definition of HP:0033610 (Subsolid pulmonary nodule)\n", + " \n", + " \n", + " Pulmonary subsolid nodules (SSNs) refer to pulmonary nodules with pure ground-glass nodules and part-solid ground-glass nodules. A ground-glass nodule (GGN) is the morphologic description of a pulmonary nodule category on thin-section chest computed tomography (CT). During the past decade, the natural history, management strategy and long-term prognosis in the case of GGNs have attracted attention.\n", + " definition of HP:0033610 (Subsolid pulmonary nodule)\n", + " \n", + " \n", + " Pulmonary artery stenosis\n", + " definition of HP:0004415 (Pulmonary artery stenosis)\n", + " \n", + " \n", + " An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.\n", + " definition of HP:0004415 (Pulmonary artery stenosis)\n", + " \n", + " \n", + " #Narrowing of lung artery\n", + " definition of HP:0004415 (Pulmonary artery stenosis)\n", + " \n", + " \n", + " Esophageal neoplasm\n", + " definition of HP:0100751 (Esophageal neoplasm)\n", + " \n", + " \n", + " A tumor (abnormal growth of tissue) of the esophagus.\n", + " definition of HP:0100751 (Esophageal neoplasm)\n", + " \n", + " \n", + " #Esophageal tumor #Esophageal tumour\n", + " definition of HP:0100751 (Esophageal neoplasm)\n", + " \n", + " \n", + " Hypoplastic umbilicus\n", + " definition of HP:0034453 (Hypoplastic umbilicus)\n", + " \n", + " \n", + " Underdevelopment of the umbilicus.\n", + " definition of HP:0034453 (Hypoplastic umbilicus)\n", + " \n", + " \n", + " #Umbilicus hypoplastic\n", + " definition of HP:0034453 (Hypoplastic umbilicus)\n", + " \n", + " \n", + " Absent epiphysis of the proximal phalanx of the 5th toe\n", + " definition of HP:0100224 (Absent epiphysis of the proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " #Absent end part of the innermost bone of the little toe #Absent end part of the innermost bone of the pinkie toe #Absent end part of the innermost bone of the pinky toe\n", + " definition of HP:0100224 (Absent epiphysis of the proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " Fractured coccyx\n", + " definition of HP:0041146 (Fractured coccyx)\n", + " \n", + " \n", + " A partial or complete breakage of the coccyx.\n", + " definition of HP:0041146 (Fractured coccyx)\n", + " \n", + " \n", + " #bone coccyx\n", + " definition of HP:0041146 (Fractured coccyx)\n", + " \n", + " \n", + " Foot acroosteolysis\n", + " definition of HP:0001842 (Foot acroosteolysis)\n", + " \n", + " \n", + " #Acroosteolysis of feet\n", + " definition of HP:0001842 (Foot acroosteolysis)\n", + " \n", + " \n", + " Elevated urine 3,5,6-trichloro-2-pyridinol level\n", + " definition of HP:0034296 (Elevated urine 3,5,6-trichloro-2-pyridinol level)\n", + " \n", + " \n", + " Detection of 3,5,6-trichloro-2-pyridinol in the urine.\n", + " definition of HP:0034296 (Elevated urine 3,5,6-trichloro-2-pyridinol level)\n", + " \n", + " \n", + " Pulmonary valve defects\n", + " definition of HP:0005148 (Pulmonary valve defects)\n", + " \n", + " \n", + " Any defect in the valve connecting the heart and the pulmonary artery.\n", + " definition of HP:0005148 (Pulmonary valve defects)\n", + " \n", + " \n", + " Hyperpigmentation in sun-exposed areas\n", + " definition of HP:0005586 (Hyperpigmentation in sun-exposed areas)\n", + " \n", + " \n", + " #Hyperpigmentation of exposed areas #Increased pigmentation in sun-exposed areas\n", + " definition of HP:0005586 (Hyperpigmentation in sun-exposed areas)\n", + " \n", + " \n", + " Episodic peripheral neuropathy\n", + " definition of HP:0006949 (Episodic peripheral neuropathy)\n", + " \n", + " \n", + " Mitral stenosis\n", + " definition of HP:0001718 (Mitral stenosis)\n", + " \n", + " \n", + " An abnormal narrowing of the orifice of the mitral valve.\n", + " definition of HP:0001718 (Mitral stenosis)\n", + " \n", + " \n", + " #Mitral valve stenosis\n", + " definition of HP:0001718 (Mitral stenosis)\n", + " \n", + " \n", + " Enlarged epiphysis of the middle phalanx of the 2nd toe\n", + " definition of HP:0100114 (Enlarged epiphysis of the middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Enlarged end part of the middle bone of the 2nd toe\n", + " definition of HP:0100114 (Enlarged epiphysis of the middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " Increased CSF albumin concentration\n", + " definition of HP:0500239 (Increased CSF albumin concentration)\n", + " \n", + " \n", + " #High albumin levels in cerebrospinal fluid\n", + " definition of HP:0500239 (Increased CSF albumin concentration)\n", + " \n", + " \n", + " Abnormal peripheral nervous system synaptic transmission\n", + " definition of HP:0030191 (Abnormal peripheral nervous system synaptic transmission)\n", + " \n", + " \n", + " An anomaly in the communication from a neuron to a target across a synapse in the peripheral nervous system.\n", + " definition of HP:0030191 (Abnormal peripheral nervous system synaptic transmission)\n", + " \n", + " \n", + " #Abnormal PNS synaptic transmission\n", + " definition of HP:0030191 (Abnormal peripheral nervous system synaptic transmission)\n", + " \n", + " \n", + " Pretibial dimple\n", + " definition of HP:0032538 (Pretibial dimple)\n", + " \n", + " \n", + " A groove or crease on the shins (pretibial, i.e., over the shin bone). Pretibial creases may be obvious at birth and may range from 3 cm to over 15 cm in length and lengthen as the limb grows. They appear as an elongated dimple because of the attachment of skin to underlying tissue (e.g., to the tibia). The dimple or crease grows in proportion to the growth of the leg.\n", + " definition of HP:0032538 (Pretibial dimple)\n", + " \n", + " \n", + " Abnormal ocular alignment\n", + " definition of HP:0500073 (Abnormal ocular alignment)\n", + " \n", + " \n", + " Any deviation from the normal ocular alignment.\n", + " definition of HP:0500073 (Abnormal ocular alignment)\n", + " \n", + " \n", + " Cortical radial artery intima/media coagulative necrosis\n", + " definition of HP:0033937 (Cortical radial artery intima/media coagulative necrosis)\n", + " \n", + " \n", + " A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures.\n", + " definition of HP:0033937 (Cortical radial artery intima/media coagulative necrosis)\n", + " \n", + " \n", + " Moderate conductive hearing impairment\n", + " definition of HP:0012716 (Moderate conductive hearing impairment)\n", + " \n", + " \n", + " The presence of a moderate form of conductive hearing impairment.\n", + " definition of HP:0012716 (Moderate conductive hearing impairment)\n", + " \n", + " \n", + " #Conductive hearing loss, moderate\n", + " definition of HP:0012716 (Moderate conductive hearing impairment)\n", + " \n", + " \n", + " Brushfield spots\n", + " definition of HP:0001088 (Brushfield spots)\n", + " \n", + " \n", + " The presence of whitish spots in a ring-like arrangement at the periphery of the iris.\n", + " definition of HP:0001088 (Brushfield spots)\n", + " \n", + " \n", + " #Iris brushfield spots\n", + " definition of HP:0001088 (Brushfield spots)\n", + " \n", + " \n", + " Starry sky appearance on hepatic sonography\n", + " definition of HP:0031145 (Starry sky appearance on hepatic sonography)\n", + " \n", + " \n", + " An abnormal echotexture visible in liver ultrasound manifesting as a diffuse hyperechoic liver echotexture with multiple, small hypoechoic lesions. The appearance is said to resemble a starry sky (multiple white spots on a dark background).\n", + " definition of HP:0031145 (Starry sky appearance on hepatic sonography)\n", + " \n", + " \n", + " Humeral sclerosis\n", + " definition of HP:0003881 (Humeral sclerosis)\n", + " \n", + " \n", + " #Increased bone density in long bone of upper arm #Sclerosis of humerus\n", + " definition of HP:0003881 (Humeral sclerosis)\n", + " \n", + " \n", + " Asymmetrical gluteal crease\n", + " definition of HP:0410260 (Asymmetrical gluteal crease)\n", + " \n", + " \n", + " The presence of an asymmetrical gluteal crease, the horizontal crease formed by the inferior aspect of the buttocks and the posterior upper leg.\n", + " definition of HP:0410260 (Asymmetrical gluteal crease)\n", + " \n", + " \n", + " #Asymmetrical buttock crease #Asymmetrical gluteal sulcus #Asymmetrical horizontal gluteal crease\n", + " definition of HP:0410260 (Asymmetrical gluteal crease)\n", + " \n", + " \n", + " Positive Romberg sign\n", + " definition of HP:0002403 (Positive Romberg sign)\n", + " \n", + " \n", + " The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception.\n", + " definition of HP:0002403 (Positive Romberg sign)\n", + " \n", + " \n", + " Hypoplasia of the nasal bone\n", + " definition of HP:0004646 (Hypoplasia of the nasal bone)\n", + " \n", + " \n", + " Underdevelopment of the nasal bone.\n", + " definition of HP:0004646 (Hypoplasia of the nasal bone)\n", + " \n", + " \n", + " #Decreased size of nasal bone #Deficiency of nasal bone #Nasal bone hypoplasia #Underdevelopment of nasal bone\n", + " definition of HP:0004646 (Hypoplasia of the nasal bone)\n", + " \n", + " \n", + " Abnormality of the hepatic vasculature\n", + " definition of HP:0006707 (Abnormality of the hepatic vasculature)\n", + " \n", + " \n", + " An abnormality of the hepatic vasculature.\n", + " definition of HP:0006707 (Abnormality of the hepatic vasculature)\n", + " \n", + " \n", + " #Abnormality of liver blood vessels #Abnormality of the liver vasculature\n", + " definition of HP:0006707 (Abnormality of the hepatic vasculature)\n", + " \n", + " \n", + " Abnormal pulmonary lymphatics\n", + " definition of HP:0006529 (Abnormal pulmonary lymphatics)\n", + " \n", + " \n", + " An abnormality of the pulmonary lymphatic chain.\n", + " definition of HP:0006529 (Abnormal pulmonary lymphatics)\n", + " \n", + " \n", + " Enlarged tonsils\n", + " definition of HP:0030812 (Enlarged tonsils)\n", + " \n", + " \n", + " Increase in size of the tonsils, small collections of lymphoid tissue facing into the aerodigestive tract on either side of the back part of the throat.\n", + " definition of HP:0030812 (Enlarged tonsils)\n", + " \n", + " \n", + " #Enlargement of tonsils #Tonsillar hypertrophy #tonsils large/hypertrophy\n", + " definition of HP:0030812 (Enlarged tonsils)\n", + " \n", + " \n", + " Focal aware sensory seizure with vestibular features\n", + " definition of HP:0032800 (Focal aware sensory seizure with vestibular features)\n", + " \n", + " \n", + " A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation.\n", + " definition of HP:0032800 (Focal aware sensory seizure with vestibular features)\n", + " \n", + " \n", + " Unusual parasitic infection\n", + " definition of HP:0020108 (Unusual parasitic infection)\n", + " \n", + " \n", + " An unusual parasitic infection that is regarded as a sign of a pathological susceptibility to infection by a parasite.\n", + " definition of HP:0020108 (Unusual parasitic infection)\n", + " \n", + " \n", + " Triangular epiphyses of the thumb\n", + " definition of HP:0009696 (Triangular epiphyses of the thumb)\n", + " \n", + " \n", + " #Triangular end part of the thumb bone\n", + " definition of HP:0009696 (Triangular epiphyses of the thumb)\n", + " \n", + " \n", + " Increased circulating IgD concentration\n", + " definition of HP:0410246 (Increased circulating IgD concentration)\n", + " \n", + " \n", + " An abnormally increased level of immunoglobulin D in blood.\n", + " definition of HP:0410246 (Increased circulating IgD concentration)\n", + " \n", + " \n", + " #Elevated IgD #Elevated serum IgD #IgD hypergammaglobulinemia #Increased circulating IgD level #Increased IgD level #Increased levels of IgD #Increased serum IgD\n", + " definition of HP:0410246 (Increased circulating IgD concentration)\n", + " \n", + " \n", + " Autoimmune thrombocytopenia\n", + " definition of HP:0001973 (Autoimmune thrombocytopenia)\n", + " \n", + " \n", + " The presence of thrombocytopenia in combination with detection of antiplatelet antibodies.\n", + " definition of HP:0001973 (Autoimmune thrombocytopenia)\n", + " \n", + " \n", + " #Idiopathic thrombocytopenia #Immune thrombocytopenia\n", + " definition of HP:0001973 (Autoimmune thrombocytopenia)\n", + " \n", + " \n", + " Pseudoepiphysis of the distal phalanx of the 5th toe\n", + " definition of HP:0100209 (Pseudoepiphysis of the distal phalanx of the 5th toe)\n", + " \n", + " \n", + " Focal active colitis\n", + " definition of HP:0033164 (Focal active colitis)\n", + " \n", + " \n", + " Focal active colitis (FAC) is characterized by focal crypt damage caused by neutrophils. FAC is characterized by an inflammatory infiltrate consisting of intraepithelial neutrophils and/or neutrophils invading the lumen of the criptae, with no other microscopic alteration of the colonic mucosa and, in particular, without the presence of signs of chronic inflammation.\n", + " definition of HP:0033164 (Focal active colitis)\n", + " \n", + " \n", + " Spinal neurenteric cyst\n", + " definition of HP:0030726 (Spinal neurenteric cyst)\n", + " \n", + " \n", + " A neurenteric cyst located in the spine.\n", + " definition of HP:0030726 (Spinal neurenteric cyst)\n", + " \n", + " \n", + " Abnormal renal medulla morphology\n", + " definition of HP:0100957 (Abnormal renal medulla morphology)\n", + " \n", + " \n", + " Any structural abnormality of the medulla of the kidney.\n", + " definition of HP:0100957 (Abnormal renal medulla morphology)\n", + " \n", + " \n", + " #Abnormality of the renal medulla\n", + " definition of HP:0100957 (Abnormal renal medulla morphology)\n", + " \n", + " \n", + " Elevated urinary 2-hydroxyisocaproic acid level\n", + " definition of HP:6000601 (Elevated urinary 2-hydroxyisocaproic acid level)\n", + " \n", + " \n", + " The amount of 2-hydroxyisocaproic acid in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000601 (Elevated urinary 2-hydroxyisocaproic acid level)\n", + " \n", + " \n", + " Abnormal optic chiasm morphology\n", + " definition of HP:0025163 (Abnormal optic chiasm morphology)\n", + " \n", + " \n", + " A structural abnormality of the optic chiasm.The optic chiasm, located below the hypothalamus, is a partial crossing of the optic nerves.\n", + " definition of HP:0025163 (Abnormal optic chiasm morphology)\n", + " \n", + " \n", + " #Abnormality of optic chiasm morphology\n", + " definition of HP:0025163 (Abnormal optic chiasm morphology)\n", + " \n", + " \n", + " Episodic vomiting\n", + " definition of HP:0002572 (Episodic vomiting)\n", + " \n", + " \n", + " Paroxysmal, recurrent episodes of vomiting.\n", + " definition of HP:0002572 (Episodic vomiting)\n", + " \n", + " \n", + " #Episodic vomiting\n", + " definition of HP:0002572 (Episodic vomiting)\n", + " \n", + " \n", + " Sloping radial metaphysis\n", + " definition of HP:0004023 (Sloping radial metaphysis)\n", + " \n", + " \n", + " Hypoplastic facial bones\n", + " definition of HP:0002692 (Hypoplastic facial bones)\n", + " \n", + " \n", + " #Decreased size of facial bones #Decreased size of facial skeleton\n", + " definition of HP:0002692 (Hypoplastic facial bones)\n", + " \n", + " \n", + " Aplasia/hypoplasia of the 1st metatarsal\n", + " definition of HP:0010067 (Aplasia/hypoplasia of the 1st metatarsal)\n", + " \n", + " \n", + " Absence or underdevelopment of the first metatarsal bone.\n", + " definition of HP:0010067 (Aplasia/hypoplasia of the 1st metatarsal)\n", + " \n", + " \n", + " #Absent/small 1st long bone of foot #Absent/underdeveloped 1st long bone of foot\n", + " definition of HP:0010067 (Aplasia/hypoplasia of the 1st metatarsal)\n", + " \n", + " \n", + " Irregular septal thickening on pulmonary HRCT\n", + " definition of HP:0025174 (Irregular septal thickening on pulmonary HRCT)\n", + " \n", + " \n", + " Thickening of the interlobular septa of the lungs as seen on a high-resolution computed tomography scan with an irregular appearance of the interlobular septa. THis feature is often associated with distortion of lung architecture.\n", + " definition of HP:0025174 (Irregular septal thickening on pulmonary HRCT)\n", + " \n", + " \n", + " Dysgraphia\n", + " definition of HP:0010526 (Dysgraphia)\n", + " \n", + " \n", + " A writing disability in the absence of motor or sensory deficits of the upper extremities, resulting in an impairment in the ability to write regardless of the ability to read and not due to intellectual impairment.\n", + " definition of HP:0010526 (Dysgraphia)\n", + " \n", + " \n", + " Superior rectus muscle underaction\n", + " definition of HP:0031747 (Superior rectus muscle underaction)\n", + " \n", + " \n", + " Reduced movement of the superior rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.\n", + " definition of HP:0031747 (Superior rectus muscle underaction)\n", + " \n", + " \n", + " Vaginal mucosal ulceration\n", + " definition of HP:0032565 (Vaginal mucosal ulceration)\n", + " \n", + " \n", + " Reduced alpha-methylacyl-CoA racemase activity in cultured fibroblasts\n", + " definition of HP:6000134 (Reduced alpha-methylacyl-CoA racemase activity in cultured fibroblasts)\n", + " \n", + " \n", + " Activity of alpha-methylacyl-CoA racemase (AMACR; EC 5.1.99.4) below the lower limit of normal in cultured fibroblasts.\n", + " definition of HP:6000134 (Reduced alpha-methylacyl-CoA racemase activity in cultured fibroblasts)\n", + " \n", + " \n", + " Abnormality of muscle of facial expression\n", + " definition of HP:0430019 (Abnormality of muscle of facial expression)\n", + " \n", + " \n", + " An abnormality of any of the muscles of facial expression, which are innervated by the seventh (VII) cranial nerve and control facial expression.\n", + " definition of HP:0430019 (Abnormality of muscle of facial expression)\n", + " \n", + " \n", + " #Abnormality of muscle of facial expression #Abnormality of musculature of facial expression\n", + " definition of HP:0430019 (Abnormality of muscle of facial expression)\n", + " \n", + " \n", + " Decreased proportion of plasmablasts\n", + " definition of HP:0032129 (Decreased proportion of plasmablasts)\n", + " \n", + " \n", + " A reduction below the normal proportion of plasmablasts in circulation relative to total number of B cells.\n", + " definition of HP:0032129 (Decreased proportion of plasmablasts)\n", + " \n", + " \n", + " Basal lamina onion bulb formation\n", + " definition of HP:0003400 (Basal lamina onion bulb formation)\n", + " \n", + " \n", + " A type of onion bulb formation prominently affecting the area of the basal lamina.\n", + " definition of HP:0003400 (Basal lamina onion bulb formation)\n", + " \n", + " \n", + " #Basal lamina 'onion bulb' formations on nerve biopsy\n", + " definition of HP:0003400 (Basal lamina onion bulb formation)\n", + " \n", + " \n", + " Exacerbated by lithium exposure\n", + " definition of HP:0034956 (Exacerbated by lithium exposure)\n", + " \n", + " \n", + " Applied to a sign or symptom that is worsened by treatment with lithium.\n", + " definition of HP:0034956 (Exacerbated by lithium exposure)\n", + " \n", + " \n", + " Abnormality of cardiovascular system electrophysiology\n", + " definition of HP:0030956 (Abnormality of cardiovascular system electrophysiology)\n", + " \n", + " \n", + " An anomaly of the electrical conduction physiology of the heart.\n", + " definition of HP:0030956 (Abnormality of cardiovascular system electrophysiology)\n", + " \n", + " \n", + " Confetti-like hypopigmented macules\n", + " definition of HP:0007449 (Confetti-like hypopigmented macules)\n", + " \n", + " \n", + " Pediatric onset\n", + " definition of HP:0410280 (Pediatric onset)\n", + " \n", + " \n", + " Onset of disease manifestations before adulthood, defined here as before the age of 16 years, but excluding neonatal or congenital onset.\n", + " definition of HP:0410280 (Pediatric onset)\n", + " \n", + " \n", + " #Onset before adulthood #Paediatric onset\n", + " definition of HP:0410280 (Pediatric onset)\n", + " \n", + " \n", + " Enlarged Eustachian valve\n", + " definition of HP:0031591 (Enlarged Eustachian valve)\n", + " \n", + " \n", + " An abnormally large Eustachian valve (postnatally). The Eustachian valve is also known as the valve of the inferior vena cava, and is an embryologic remnant of the valve of the inferior vena cava.\n", + " definition of HP:0031591 (Enlarged Eustachian valve)\n", + " \n", + " \n", + " #Enlarged inferior vena cava valve\n", + " definition of HP:0031591 (Enlarged Eustachian valve)\n", + " \n", + " \n", + " Reflex seizure\n", + " definition of HP:0020207 (Reflex seizure)\n", + " \n", + " \n", + " Seizures precipitated by exogenous stimuli.\n", + " definition of HP:0020207 (Reflex seizure)\n", + " \n", + " \n", + " Fused labia minora\n", + " definition of HP:0000063 (Fused labia minora)\n", + " \n", + " \n", + " Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction.\n", + " definition of HP:0000063 (Fused labia minora)\n", + " \n", + " \n", + " #Fused inner lips\n", + " definition of HP:0000063 (Fused labia minora)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the clitoris\n", + " definition of HP:0040255 (Aplasia/Hypoplasia of the clitoris)\n", + " \n", + " \n", + " Maternal zinc deficiency\n", + " definition of HP:6000166 (Maternal zinc deficiency)\n", + " \n", + " \n", + " The mother of a fetus or index patient has a history of abnormally low zinc levels during the corresponding pregnancy.\n", + " definition of HP:6000166 (Maternal zinc deficiency)\n", + " \n", + " \n", + " Vitritis\n", + " definition of HP:0011531 (Vitritis)\n", + " \n", + " \n", + " Inflammation of the vitreous body, characterized by the presence of inflammatory cells and protein exudate in the vitreous cavity.\n", + " definition of HP:0011531 (Vitritis)\n", + " \n", + " \n", + " #Hyalitis #Vitreitis\n", + " definition of HP:0011531 (Vitritis)\n", + " \n", + " \n", + " Abnormal urinary electrolyte concentration\n", + " definition of HP:0012591 (Abnormal urinary electrolyte concentration)\n", + " \n", + " \n", + " An abnormality in the concentration of electrolytes in the urine.\n", + " definition of HP:0012591 (Abnormal urinary electrolyte concentration)\n", + " \n", + " \n", + " #Urinary electrolyte imbalance\n", + " definition of HP:0012591 (Abnormal urinary electrolyte concentration)\n", + " \n", + " \n", + " Elevated circulating homoarginine concentration\n", + " definition of HP:0034741 (Elevated circulating homoarginine concentration)\n", + " \n", + " \n", + " Concentration of homoarginine in the blood circulation above the upper limit of normal.\n", + " definition of HP:0034741 (Elevated circulating homoarginine concentration)\n", + " \n", + " \n", + " #Homoarginine high in blood\n", + " definition of HP:0034741 (Elevated circulating homoarginine concentration)\n", + " \n", + " \n", + " Marcus Gunn pupil\n", + " definition of HP:0200057 (Marcus Gunn pupil)\n", + " \n", + " \n", + " An aberrant pupillary response characterized by (i) Constriction of pupils of both eyes when the light stimulus is applied to the normal eye, and (ii) Dilatation of pupils of both eyes when the light stimulus is rapidly transferred from the normal eye (after brief light exposure to the normal eye) to the affected eye.\n", + " definition of HP:0200057 (Marcus Gunn pupil)\n", + " \n", + " \n", + " #Relative afferent pupil defect #Relative afferent pupillary defect\n", + " definition of HP:0200057 (Marcus Gunn pupil)\n", + " \n", + " \n", + " Abnormal platelet membrane protein expression\n", + " definition of HP:0011878 (Abnormal platelet membrane protein expression)\n", + " \n", + " \n", + " Presence of reduced amount of a membrane protein on the cell membrane of platelets. This feature is typically measured by flow cytometry.\n", + " definition of HP:0011878 (Abnormal platelet membrane protein expression)\n", + " \n", + " \n", + " Absent epiphyses of the thumb\n", + " definition of HP:0009686 (Absent epiphyses of the thumb)\n", + " \n", + " \n", + " Absence of one or more epiphyses of the thumb.\n", + " definition of HP:0009686 (Absent epiphyses of the thumb)\n", + " \n", + " \n", + " Increased anti-drug IgE antibody level\n", + " definition of HP:0410225 (Increased anti-drug IgE antibody level)\n", + " \n", + " \n", + " Increased level of IgE antibody against a drug or class of drugs, such as antibiotics.\n", + " definition of HP:0410225 (Increased anti-drug IgE antibody level)\n", + " \n", + " \n", + " #Increased level of anti-drug IgE antibody\n", + " definition of HP:0410225 (Increased anti-drug IgE antibody level)\n", + " \n", + " \n", + " Abnormal growth hormone level\n", + " definition of HP:0032367 (Abnormal growth hormone level)\n", + " \n", + " \n", + " Any deviation from the normal level of growth hormone (GH) in the blood circulation. GH or somatotropin is a peptide hormone that stimulates growth, cell reproduction, and cell regeneration. Its secretion from the pituitary is regulated by the neurosecretory nuclei of the hypothalamus, which can release Growth hormone-releasing hormone (GHRH or somatocrinin) and Growth hormone-inhibiting hormone (GHIH or somatostatin) into the hypophyseal portal venous blood surrounding the pituitary. GH is secreted in a pulsatile manner, which is one of the reasons why an isolated measurement of its blood concentration is not meaningful.\n", + " definition of HP:0032367 (Abnormal growth hormone level)\n", + " \n", + " \n", + " #Abnormal somatotropin level\n", + " definition of HP:0032367 (Abnormal growth hormone level)\n", + " \n", + " \n", + " Unusual helminthic infection\n", + " definition of HP:0020107 (Unusual helminthic infection)\n", + " \n", + " \n", + " An unusual helminthic infection that is regarded as a sign of a pathological susceptibility to infection by a worm (helminth).\n", + " definition of HP:0020107 (Unusual helminthic infection)\n", + " \n", + " \n", + " Episodic ammonia intoxication\n", + " definition of HP:0001951 (Episodic ammonia intoxication)\n", + " \n", + " \n", + " Increased waist to hip ratio\n", + " definition of HP:0031819 (Increased waist to hip ratio)\n", + " \n", + " \n", + " Increased waist-to-hip ratio (WHR) is a measurement above the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement.\n", + " definition of HP:0031819 (Increased waist to hip ratio)\n", + " \n", + " \n", + " #Increased waist-hip ratio #Increased waist-to-hip ratio #Increased WHR\n", + " definition of HP:0031819 (Increased waist to hip ratio)\n", + " \n", + " \n", + " Recurrent viral infections\n", + " definition of HP:0004429 (Recurrent viral infections)\n", + " \n", + " \n", + " Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection.\n", + " definition of HP:0004429 (Recurrent viral infections)\n", + " \n", + " \n", + " Shoulder dystocia\n", + " definition of HP:0011413 (Shoulder dystocia)\n", + " \n", + " \n", + " Shoulder dystocia occurs when the fetal anterior shoulder impacts against the maternal symphysis following delivery of the vertex.\n", + " definition of HP:0011413 (Shoulder dystocia)\n", + " \n", + " \n", + " Long eyelashes in irregular rows\n", + " definition of HP:0007740 (Long eyelashes in irregular rows)\n", + " \n", + " \n", + " #Long eyelashes in irregular rows\n", + " definition of HP:0007740 (Long eyelashes in irregular rows)\n", + " \n", + " \n", + " Decreased cranial base ossification\n", + " definition of HP:0005451 (Decreased cranial base ossification)\n", + " \n", + " \n", + " Aplasia of the uterus\n", + " definition of HP:0000151 (Aplasia of the uterus)\n", + " \n", + " \n", + " Aplasia of the uterus.\n", + " definition of HP:0000151 (Aplasia of the uterus)\n", + " \n", + " \n", + " #Absent uterus #uterus absent\n", + " definition of HP:0000151 (Aplasia of the uterus)\n", + " \n", + " \n", + " Amblyopia\n", + " definition of HP:0000646 (Amblyopia)\n", + " \n", + " \n", + " Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways.\n", + " definition of HP:0000646 (Amblyopia)\n", + " \n", + " \n", + " #Lazy eye #Wandering eye #Wandering eyes\n", + " definition of HP:0000646 (Amblyopia)\n", + " \n", + " \n", + " Chronic pulmonary obstruction\n", + " definition of HP:0006510 (Chronic pulmonary obstruction)\n", + " \n", + " \n", + " An anomaly that is characterized progressive airflow obstruction that is only partly reversible, inflammation in the airways, and systemic effects or comorbities.\n", + " definition of HP:0006510 (Chronic pulmonary obstruction)\n", + " \n", + " \n", + " #Chronic obstructive pulmonary disease #COPD\n", + " definition of HP:0006510 (Chronic pulmonary obstruction)\n", + " \n", + " \n", + " Spastic paraparetic gait\n", + " definition of HP:0031958 (Spastic paraparetic gait)\n", + " \n", + " \n", + " A type of spastic gait in which the legs are usually slightly bent at the hip and in an adducted position. The knees are extended or slightly bent and the feet are in a plantar flexion position. This posture requires circumduction of the legs during walking. The gait may appear stiff (spastic gait disorder) or stiff as well as insecure (spastic ataxic gait disorder). In spastic paraparetic gait, each leg appears to be dragged forward. If the muscle tone in the adductors is marked, the resulting gait disorder is referred to as scissor gait.\n", + " definition of HP:0031958 (Spastic paraparetic gait)\n", + " \n", + " \n", + " Galactosuria\n", + " definition of HP:0012023 (Galactosuria)\n", + " \n", + " \n", + " Elevated concentration of galactose in the urine.\n", + " definition of HP:0012023 (Galactosuria)\n", + " \n", + " \n", + " #Increased urinary galactose level\n", + " definition of HP:0012023 (Galactosuria)\n", + " \n", + " \n", + " Elevated urine 3-methyladipic acid level\n", + " definition of HP:6000466 (Elevated urine 3-methyladipic acid level)\n", + " \n", + " \n", + " The amount of 3-methyladipic acid in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000466 (Elevated urine 3-methyladipic acid level)\n", + " \n", + " \n", + " Persistent patent ductus venosus\n", + " definition of HP:0012021 (Persistent patent ductus venosus)\n", + " \n", + " \n", + " Persistence of blood flow through the ductus venosus for longer than the normal time after birth.\n", + " definition of HP:0012021 (Persistent patent ductus venosus)\n", + " \n", + " \n", + " Incyclophoria\n", + " definition of HP:0031778 (Incyclophoria)\n", + " \n", + " \n", + " A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated inward (medially) to each other.\n", + " definition of HP:0031778 (Incyclophoria)\n", + " \n", + " \n", + " Pseudoepiphyses of the 4th toe\n", + " definition of HP:0100073 (Pseudoepiphyses of the 4th toe)\n", + " \n", + " \n", + " Focal impaired awareness emotional seizure with anger\n", + " definition of HP:0032748 (Focal impaired awareness emotional seizure with anger)\n", + " \n", + " \n", + " Focal emotional seizure with anger in which awareness is partially or fully impaired at some point during the seizure.\n", + " definition of HP:0032748 (Focal impaired awareness emotional seizure with anger)\n", + " \n", + " \n", + " Abnormal fifth toe morphology\n", + " definition of HP:0010322 (Abnormal fifth toe morphology)\n", + " \n", + " \n", + " An anomaly of the little toe.\n", + " definition of HP:0010322 (Abnormal fifth toe morphology)\n", + " \n", + " \n", + " #Abnormal 5th toe morphology #Abnormality of the 5th toe #Abnormality of the little toe #Abnormality of the pinkie toe #Abnormality of the pinky toe\n", + " definition of HP:0010322 (Abnormal fifth toe morphology)\n", + " \n", + " \n", + " Amyloid goiter\n", + " definition of HP:6000815 (Amyloid goiter)\n", + " \n", + " \n", + " Amyloidosis is defined as the accumulation of amorphous, proteinaceous material in different parts of the body. Amyloid can be deposited in the thyroid gland in such quantities to cause a clinically apparent enlargement of the gland known as Amyloid goiter.\n", + " definition of HP:6000815 (Amyloid goiter)\n", + " \n", + " \n", + " #Thyroid gland amyloidosis\n", + " definition of HP:6000815 (Amyloid goiter)\n", + " \n", + " \n", + " Increased CSF histidine concentration\n", + " definition of HP:0500236 (Increased CSF histidine concentration)\n", + " \n", + " \n", + " Abnormally increased levels of histidine in cerebrospinal fluid.\n", + " definition of HP:0500236 (Increased CSF histidine concentration)\n", + " \n", + " \n", + " #High histidine levels in cerebrospinal fluid\n", + " definition of HP:0500236 (Increased CSF histidine concentration)\n", + " \n", + " \n", + " Spinal neurofibroma\n", + " definition of HP:0009735 (Spinal neurofibroma)\n", + " \n", + " \n", + " A neurofibroma (benign peripheral nerve sheath tumor) localized in the spine.\n", + " definition of HP:0009735 (Spinal neurofibroma)\n", + " \n", + " \n", + " #Spinal neurofibromas\n", + " definition of HP:0009735 (Spinal neurofibroma)\n", + " \n", + " \n", + " Patchy sclerosis of the distal phalanx of the 2nd finger\n", + " definition of HP:0009562 (Patchy sclerosis of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Uneven (irregular) increase in bone density of the distal phalanx of the second finger.\n", + " definition of HP:0009562 (Patchy sclerosis of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Uneven increase in bone density in the outermost bone of the 2nd finger\n", + " definition of HP:0009562 (Patchy sclerosis of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Agranulocytosis\n", + " definition of HP:0012234 (Agranulocytosis)\n", + " \n", + " \n", + " Marked decrease in the number of granulocytes.\n", + " definition of HP:0012234 (Agranulocytosis)\n", + " \n", + " \n", + " Symphalangism affecting the phalanges of the hand\n", + " definition of HP:0009773 (Symphalangism affecting the phalanges of the hand)\n", + " \n", + " \n", + " Fusion of two or more phalangeal bones of the hand.\n", + " definition of HP:0009773 (Symphalangism affecting the phalanges of the hand)\n", + " \n", + " \n", + " #Fused finger bones of the hand #Synostosis involving phalanges of the hand\n", + " definition of HP:0009773 (Symphalangism affecting the phalanges of the hand)\n", + " \n", + " \n", + " Short term memory impairment\n", + " definition of HP:0033687 (Short term memory impairment)\n", + " \n", + " \n", + " A deficit in the retention of pieces of information (memory chunks) for a relatively short time (usually up to 30 seconds).\n", + " definition of HP:0033687 (Short term memory impairment)\n", + " \n", + " \n", + " #Short term memory loss\n", + " definition of HP:0033687 (Short term memory impairment)\n", + " \n", + " \n", + " Duplication of the distal phalanx of the 3rd toe\n", + " definition of HP:0100398 (Duplication of the distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Partial or complete duplication of distal phalanx of third toe.\n", + " definition of HP:0100398 (Duplication of the distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Duplication of the distal phalanx of the third toe #Duplication of the outermost bone of the 3rd toe #Partial/complete duplication of the distal phalanx of the 3rd toe\n", + " definition of HP:0100398 (Duplication of the distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Hypoplasia of the brainstem\n", + " definition of HP:0002365 (Hypoplasia of the brainstem)\n", + " \n", + " \n", + " Underdevelopment of the brainstem.\n", + " definition of HP:0002365 (Hypoplasia of the brainstem)\n", + " \n", + " \n", + " #Brainstem hypoplasia #Hypoplastic brain stem #Hypoplastic brainstem #Small brainstem #Underdeveloped brainstem\n", + " definition of HP:0002365 (Hypoplasia of the brainstem)\n", + " \n", + " \n", + " Complete right sided absence of pericardium\n", + " definition of HP:0011631 (Complete right sided absence of pericardium)\n", + " \n", + " \n", + " No pericardium is present on the righthand side of the heart. It is a congenital absence of pericardium rather than the result of a pericardectomy.\n", + " definition of HP:0011631 (Complete right sided absence of pericardium)\n", + " \n", + " \n", + " Abdominal wall defect\n", + " definition of HP:0010866 (Abdominal wall defect)\n", + " \n", + " \n", + " An incomplete closure of the abdominal wall.\n", + " definition of HP:0010866 (Abdominal wall defect)\n", + " \n", + " \n", + " #Abdominal wall defect #Congenital anterior abdominal wall defect\n", + " definition of HP:0010866 (Abdominal wall defect)\n", + " \n", + " \n", + " Transverse facial cleft\n", + " definition of HP:0100731 (Transverse facial cleft)\n", + " \n", + " \n", + " A horizontal cleft of the face, varying from slight widening of the mouth, to a cleft extending to the ear.\n", + " definition of HP:0100731 (Transverse facial cleft)\n", + " \n", + " \n", + " #Lateral facial cleft\n", + " definition of HP:0100731 (Transverse facial cleft)\n", + " \n", + " \n", + " Prominent fingertip pads\n", + " definition of HP:0001212 (Prominent fingertip pads)\n", + " \n", + " \n", + " A soft tissue prominence of the ventral aspects of the fingertips. The term \\"persistent fetal fingertip pads\\" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist.\n", + " definition of HP:0001212 (Prominent fingertip pads)\n", + " \n", + " \n", + " #Persistence of fingerpads #Persistent fetal fingertip pads #Persistent foetal fingertip pads #Prominent finger pads #Prominent fingertip pads\n", + " definition of HP:0001212 (Prominent fingertip pads)\n", + " \n", + " \n", + " Proximal foot symphalangism\n", + " definition of HP:0100237 (Proximal foot symphalangism)\n", + " \n", + " \n", + " Elevated urine 4-hydroxyisovaleric acid level\n", + " definition of HP:0034663 (Elevated urine 4-hydroxyisovaleric acid level)\n", + " \n", + " \n", + " Amount of 4-hydroxyisovaleric acid in urine above upper limit of normal.\n", + " definition of HP:0034663 (Elevated urine 4-hydroxyisovaleric acid level)\n", + " \n", + " \n", + " #4-hydroxyisovaleric acid present in urine\n", + " definition of HP:0034663 (Elevated urine 4-hydroxyisovaleric acid level)\n", + " \n", + " \n", + " Abnormality of ocular smooth pursuit\n", + " definition of HP:0000617 (Abnormality of ocular smooth pursuit)\n", + " \n", + " \n", + " An abnormality of eye movement characterized by impaired smooth-pursuit eye movements.\n", + " definition of HP:0000617 (Abnormality of ocular smooth pursuit)\n", + " \n", + " \n", + " #Abnormal smooth pursuits #Disrupted ocular pursuit movements #Impaired smooth pursuit ocular movements #Irregular visual pursuit movements\n", + " definition of HP:0000617 (Abnormality of ocular smooth pursuit)\n", + " \n", + " \n", + " Ivory epiphysis of the proximal phalanx of the 2nd toe\n", + " definition of HP:0100128 (Ivory epiphysis of the proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Increased bone density of end part of the innermost bone of the 2nd toe\n", + " definition of HP:0100128 (Ivory epiphysis of the proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Exostoses of hand bones\n", + " definition of HP:0004276 (Exostoses of hand bones)\n", + " \n", + " \n", + " Abnormal formation of new bone on the surface of a bone of the hand.\n", + " definition of HP:0004276 (Exostoses of hand bones)\n", + " \n", + " \n", + " Addictive sex behavior\n", + " definition of HP:5200335 (Addictive sex behavior)\n", + " \n", + " \n", + " Inability to control or manage sexual urges, fantasies, or behaviors that impair one's ability to function.\n", + " definition of HP:5200335 (Addictive sex behavior)\n", + " \n", + " \n", + " #Sex addiction\n", + " definition of HP:5200335 (Addictive sex behavior)\n", + " \n", + " \n", + " Impaired social imitation\n", + " definition of HP:5200026 (Impaired social imitation)\n", + " \n", + " \n", + " Reduced use of imitation of tasks or movements of others in play or learning.\n", + " definition of HP:5200026 (Impaired social imitation)\n", + " \n", + " \n", + " Lipogranulomatosis\n", + " definition of HP:0040139 (Lipogranulomatosis)\n", + " \n", + " \n", + " Yellow nodules of lipoid material are deposited in the skin and mucosae. This gives rise to granulomatous reactions.\n", + " definition of HP:0040139 (Lipogranulomatosis)\n", + " \n", + " \n", + " Patchy sclerosis of the proximal phalanx of the hallux\n", + " definition of HP:0010090 (Patchy sclerosis of the proximal phalanx of the hallux)\n", + " \n", + " \n", + " #Uneven increase in bone density in the innermost bone of the big toe\n", + " definition of HP:0010090 (Patchy sclerosis of the proximal phalanx of the hallux)\n", + " \n", + " \n", + " Deviation of finger\n", + " definition of HP:0004097 (Deviation of finger)\n", + " \n", + " \n", + " Deviated fingers is a term that should be used if one or more fingers of the hand are deviated from their normal position, either to the radial or ulnar side. A deviation of a finger can be caused by an abnormal form of one or more of the phalanges of the affected finger, or by a deviation or displacement of one or more phalanges.\n", + " definition of HP:0004097 (Deviation of finger)\n", + " \n", + " \n", + " #Atypical position of finger #Deviated fingers #Finger pointing in a different direction than usual\n", + " definition of HP:0004097 (Deviation of finger)\n", + " \n", + " \n", + " Spondylolisthesis at L5-S1\n", + " definition of HP:0008489 (Spondylolisthesis at L5-S1)\n", + " \n", + " \n", + " Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the fifth lumbar vertebral body (L5) onto the sacrum (level S1).\n", + " definition of HP:0008489 (Spondylolisthesis at L5-S1)\n", + " \n", + " \n", + " #Spondylolysis and spondylolisthesis of l5\n", + " definition of HP:0008489 (Spondylolisthesis at L5-S1)\n", + " \n", + " \n", + " Abnormal central microtubular pair morphology of respiratory motile cilia\n", + " definition of HP:0012260 (Abnormal central microtubular pair morphology of respiratory motile cilia)\n", + " \n", + " \n", + " A structural anomaly of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration.\n", + " definition of HP:0012260 (Abnormal central microtubular pair morphology of respiratory motile cilia)\n", + " \n", + " \n", + " Elevated circulating decenoylcarnitine concentration\n", + " definition of HP:0033439 (Elevated circulating decenoylcarnitine concentration)\n", + " \n", + " \n", + " Concentration of decenoylcarnitine in the blood circulation above the upper limit of normal.\n", + " definition of HP:0033439 (Elevated circulating decenoylcarnitine concentration)\n", + " \n", + " \n", + " #Elevated circulating C10:1 acylcarnitine concentration #Elevated circulating O-decenoylcarnitine concentration #Elevated plasma decenoylcarnitine, C10:1\n", + " definition of HP:0033439 (Elevated circulating decenoylcarnitine concentration)\n", + " \n", + " \n", + " Elevated circulating propionylcarnitine concentration\n", + " definition of HP:0033443 (Elevated circulating propionylcarnitine concentration)\n", + " \n", + " \n", + " Increased concentration of propionylcarnitine in the blood circulation.\n", + " definition of HP:0033443 (Elevated circulating propionylcarnitine concentration)\n", + " \n", + " \n", + " #Elevated C3 acylcarnitine\n", + " definition of HP:0033443 (Elevated circulating propionylcarnitine concentration)\n", + " \n", + " \n", + " Abnormal speech pattern\n", + " definition of HP:0002167 (Abnormal speech pattern)\n", + " \n", + " \n", + " An abnormality in the sound (volume) or cadence (rate) of speech.\n", + " definition of HP:0002167 (Abnormal speech pattern)\n", + " \n", + " \n", + " #Abnormal speech #Abnormal vocalisation #Abnormal vocalization #Abnormality of speech or vocalization\n", + " definition of HP:0002167 (Abnormal speech pattern)\n", + " \n", + " \n", + " Abnormal urinary inosine level\n", + " definition of HP:0040421 (Abnormal urinary inosine level)\n", + " \n", + " \n", + " The amount of inosine in the urine, normalized for urine concentration, is outside the limits of normal.\n", + " definition of HP:0040421 (Abnormal urinary inosine level)\n", + " \n", + " \n", + " Visceral epithelial cell capping\n", + " definition of HP:0033239 (Visceral epithelial cell capping)\n", + " \n", + " \n", + " Layer of hypertrophied visceral epithelial cells overlying a sclerosed segment of the tuft of the glomerulus.\n", + " definition of HP:0033239 (Visceral epithelial cell capping)\n", + " \n", + " \n", + " #Podocyte cap\n", + " definition of HP:0033239 (Visceral epithelial cell capping)\n", + " \n", + " \n", + " Folate-dependent fragile site at Xq28\n", + " definition of HP:0003564 (Folate-dependent fragile site at Xq28)\n", + " \n", + " \n", + " The presence of a folate sensitive fragile site at chromosome Xq28.\n", + " definition of HP:0003564 (Folate-dependent fragile site at Xq28)\n", + " \n", + " \n", + " Fractured epiphysis of first metatarsal bone\n", + " definition of HP:0041193 (Fractured epiphysis of first metatarsal bone)\n", + " \n", + " \n", + " A partial or complete breakage of the epiphysis of first metatarsal bone.\n", + " definition of HP:0041193 (Fractured epiphysis of first metatarsal bone)\n", + " \n", + " \n", + " #bone epiphysis of first metatarsal bone\n", + " definition of HP:0041193 (Fractured epiphysis of first metatarsal bone)\n", + " \n", + " \n", + " Triangular shaped phalanges of the 4th finger\n", + " definition of HP:0009407 (Triangular shaped phalanges of the 4th finger)\n", + " \n", + " \n", + " Triangular shaped phalanges of the 4th finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.\n", + " definition of HP:0009407 (Triangular shaped phalanges of the 4th finger)\n", + " \n", + " \n", + " #Triangular shaped bone of ring finger\n", + " definition of HP:0009407 (Triangular shaped phalanges of the 4th finger)\n", + " \n", + " \n", + " Antisperm antibody positivity\n", + " definition of HP:6000188 (Antisperm antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against sperm antigens.\n", + " definition of HP:6000188 (Antisperm antibody positivity)\n", + " \n", + " \n", + " Femoral osteosclerosis\n", + " definition of HP:6000708 (Femoral osteosclerosis)\n", + " \n", + " \n", + " An abnormal increase of bone mineral density of the femur. Sclerosis is normally detected on a radiograph as an area of increased opacity.\n", + " definition of HP:6000708 (Femoral osteosclerosis)\n", + " \n", + " \n", + " #Osteosclerosis of the femur\n", + " definition of HP:6000708 (Femoral osteosclerosis)\n", + " \n", + " \n", + " Intolerance to protein\n", + " definition of HP:0001984 (Intolerance to protein)\n", + " \n", + " \n", + " Aplasia of the middle phalanx of the 4th toe\n", + " definition of HP:0100382 (Aplasia of the middle phalanx of the 4th toe)\n", + " \n", + " \n", + " #Absent middle bone of 4th toe\n", + " definition of HP:0100382 (Aplasia of the middle phalanx of the 4th toe)\n", + " \n", + " \n", + " Narrow nail\n", + " definition of HP:0011313 (Narrow nail)\n", + " \n", + " \n", + " Decreased width of nail.\n", + " definition of HP:0011313 (Narrow nail)\n", + " \n", + " \n", + " #Narrow nail\n", + " definition of HP:0011313 (Narrow nail)\n", + " \n", + " \n", + " Abnormal hepatic artery morphology\n", + " definition of HP:4000147 (Abnormal hepatic artery morphology)\n", + " \n", + " \n", + " Any structural anomaly of the hepatic artery or its branches.\n", + " definition of HP:4000147 (Abnormal hepatic artery morphology)\n", + " \n", + " \n", + " Ectopic anus\n", + " definition of HP:0004397 (Ectopic anus)\n", + " \n", + " \n", + " Abnormal displacement or malposition of the anus.\n", + " definition of HP:0004397 (Ectopic anus)\n", + " \n", + " \n", + " #Abnormal anus position #Anus malposition\n", + " definition of HP:0004397 (Ectopic anus)\n", + " \n", + " \n", + " Curved fingers\n", + " definition of HP:0004095 (Curved fingers)\n", + " \n", + " \n", + " #Curved fingers\n", + " definition of HP:0004095 (Curved fingers)\n", + " \n", + " \n", + " Spinal arachnoid cyst\n", + " definition of HP:0009745 (Spinal arachnoid cyst)\n", + " \n", + " \n", + " Presence of arachnoid cysts of the spinal canal extradurally in the epidural space.\n", + " definition of HP:0009745 (Spinal arachnoid cyst)\n", + " \n", + " \n", + " #Epidural arachnoid cysts of the spinal canal\n", + " definition of HP:0009745 (Spinal arachnoid cyst)\n", + " \n", + " \n", + " Neonatal epiphyseal stippling\n", + " definition of HP:0005756 (Neonatal epiphyseal stippling)\n", + " \n", + " \n", + " The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses during the neonatal period.\n", + " definition of HP:0005756 (Neonatal epiphyseal stippling)\n", + " \n", + " \n", + " #Epiphyseal stippling in neonates #Speckled calcifications in bone end parts in neonates\n", + " definition of HP:0005756 (Neonatal epiphyseal stippling)\n", + " \n", + " \n", + " Enlarged epiphyses of the 2nd toe\n", + " definition of HP:0100047 (Enlarged epiphyses of the 2nd toe)\n", + " \n", + " \n", + " #Enlarged end part of the 2nd toe bone\n", + " definition of HP:0100047 (Enlarged epiphyses of the 2nd toe)\n", + " \n", + " \n", + " Low serum calcitriol\n", + " definition of HP:0012052 (Low serum calcitriol)\n", + " \n", + " \n", + " A reduced concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3.\n", + " definition of HP:0012052 (Low serum calcitriol)\n", + " \n", + " \n", + " #Low serum 1,25-dihydroxycholecalciferol #Low serum 1,25-dihydroxyvitamin D3\n", + " definition of HP:0012052 (Low serum calcitriol)\n", + " \n", + " \n", + " Bullet-shaped middle phalanx of the 2nd toe\n", + " definition of HP:0010406 (Bullet-shaped middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " An abnormal morphology of the middle phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.\n", + " definition of HP:0010406 (Bullet-shaped middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Bullet-shaped middle bone of 2nd toe\n", + " definition of HP:0010406 (Bullet-shaped middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " Coldness\n", + " definition of HP:0033850 (Coldness)\n", + " \n", + " \n", + " Relative coldness of a body part to palpitation, often acccompanied by feelings of coldness.\n", + " definition of HP:0033850 (Coldness)\n", + " \n", + " \n", + " #Cold skin temperature #Cool skin #Cool skin temperature #Coolness to palpation\n", + " definition of HP:0033850 (Coldness)\n", + " \n", + " \n", + " Atheroeruptive xanthoma\n", + " definition of HP:0001039 (Atheroeruptive xanthoma)\n", + " \n", + " \n", + " Accessory carpal bones\n", + " definition of HP:0004232 (Accessory carpal bones)\n", + " \n", + " \n", + " The presence of more than the normal number of carpal bones.\n", + " definition of HP:0004232 (Accessory carpal bones)\n", + " \n", + " \n", + " #Supernumerary carpal bones\n", + " definition of HP:0004232 (Accessory carpal bones)\n", + " \n", + " \n", + " Hypoplastic iliac wing\n", + " definition of HP:0002866 (Hypoplastic iliac wing)\n", + " \n", + " \n", + " Underdevelopment of the ilium ala.\n", + " definition of HP:0002866 (Hypoplastic iliac wing)\n", + " \n", + " \n", + " #Hypoplastic iliac alae #Hypoplastic iliac wings #Small iliac wings\n", + " definition of HP:0002866 (Hypoplastic iliac wing)\n", + " \n", + " \n", + " Cardiovascular calcification\n", + " definition of HP:0011915 (Cardiovascular calcification)\n", + " \n", + " \n", + " Abnormal calcification in the cardiovascular system.\n", + " definition of HP:0011915 (Cardiovascular calcification)\n", + " \n", + " \n", + " Cystine nephrolithiasis\n", + " definition of HP:6001031 (Cystine nephrolithiasis)\n", + " \n", + " \n", + " Deposition of cystine crystals in kidney tissue. Cystine crystals display a pathognomic hexagonal shape.\n", + " definition of HP:6001031 (Cystine nephrolithiasis)\n", + " \n", + " \n", + " Abnormality of foot cortical bone\n", + " definition of HP:0025332 (Abnormality of foot cortical bone)\n", + " \n", + " \n", + " An anomaly of the outer shell (cortex) of a foot bone.\n", + " definition of HP:0025332 (Abnormality of foot cortical bone)\n", + " \n", + " \n", + " #Abnormality of the cortex of foot bones\n", + " definition of HP:0025332 (Abnormality of foot cortical bone)\n", + " \n", + " \n", + " Death in adulthood\n", + " definition of HP:0033763 (Death in adulthood)\n", + " \n", + " \n", + " Cessation of life at the age of 16 years or later.\n", + " definition of HP:0033763 (Death in adulthood)\n", + " \n", + " \n", + " Anti-aquaporin 4 antibody positivity\n", + " definition of HP:0033342 (Anti-aquaporin 4 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against aquaporin-4.\n", + " definition of HP:0033342 (Anti-aquaporin 4 antibody positivity)\n", + " \n", + " \n", + " #Anti-AQP4 antibody positivity\n", + " definition of HP:0033342 (Anti-aquaporin 4 antibody positivity)\n", + " \n", + " \n", + " Frontolimbic dementia\n", + " definition of HP:0002439 (Frontolimbic dementia)\n", + " \n", + " \n", + " Partial duplication of the middle phalanx of the 2nd finger\n", + " definition of HP:0009953 (Partial duplication of the middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " Partial duplication of the middle phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx.\n", + " definition of HP:0009953 (Partial duplication of the middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Partial duplication of the middle bone of the index finger\n", + " definition of HP:0009953 (Partial duplication of the middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " Bracket epiphysis of the proximal phalanx of the 3rd finger\n", + " definition of HP:0009347 (Bracket epiphysis of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " An abnormality of the proximal phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.\n", + " definition of HP:0009347 (Bracket epiphysis of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Bracket shaped end part of innermost long bone of the middle finger\n", + " definition of HP:0009347 (Bracket epiphysis of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Portal vein hypoplasia\n", + " definition of HP:0034548 (Portal vein hypoplasia)\n", + " \n", + " \n", + " A developmental defect characterized by underdevelopment of the portal vein.\n", + " definition of HP:0034548 (Portal vein hypoplasia)\n", + " \n", + " \n", + " #Hypoplasia of the portal veins\n", + " definition of HP:0034548 (Portal vein hypoplasia)\n", + " \n", + " \n", + " Abnormal intrahepatic bile duct morphology\n", + " definition of HP:0011040 (Abnormal intrahepatic bile duct morphology)\n", + " \n", + " \n", + " An abnormality of the intrahepatic bile duct.\n", + " definition of HP:0011040 (Abnormal intrahepatic bile duct morphology)\n", + " \n", + " \n", + " #Abnormality of the intrahepatic bile duct\n", + " definition of HP:0011040 (Abnormal intrahepatic bile duct morphology)\n", + " \n", + " \n", + " Increased level of galactonate in red blood cells\n", + " definition of HP:0410063 (Increased level of galactonate in red blood cells)\n", + " \n", + " \n", + " An increase in the level of galactonate in the red blood cells.\n", + " definition of HP:0410063 (Increased level of galactonate in red blood cells)\n", + " \n", + " \n", + " #Increased level of galactonate in erythrocytes #Increased level of galactonate in RBCs\n", + " definition of HP:0410063 (Increased level of galactonate in red blood cells)\n", + " \n", + " \n", + " High serum osmolality\n", + " definition of HP:6000681 (High serum osmolality)\n", + " \n", + " \n", + " Serum osmolality, which is defined as the sum of the osmolalities of every single dissolved particle in the blood such as sodium and associated anions, potassium, glucose, and urea, is above the upper limit of normal.\n", + " definition of HP:6000681 (High serum osmolality)\n", + " \n", + " \n", + " Premature ventricular contraction\n", + " definition of HP:0006682 (Premature ventricular contraction)\n", + " \n", + " \n", + " Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node.\n", + " definition of HP:0006682 (Premature ventricular contraction)\n", + " \n", + " \n", + " #Extra heart beat #Premature ventricular beat #Premature ventricular contractions #Ventricular ectopics #Ventricular extrasystoles #Ventricular premature beat\n", + " definition of HP:0006682 (Premature ventricular contraction)\n", + " \n", + " \n", + " Involuntary vocalization\n", + " definition of HP:4000074 (Involuntary vocalization)\n", + " \n", + " \n", + " Production of sound done without will or conscious control. Involuntary vocalizations include tics, stereotypies vocalizations as part of dystonia or chorea, continuous vocalizing behaviors such as groaning or grunting, pathological laughter and crying, and others. These vocalizations are not recognized as socially or culturally appropriate.\n", + " definition of HP:4000074 (Involuntary vocalization)\n", + " \n", + " \n", + " Positive CSF herpes simplex virus nucleic acid test\n", + " definition of HP:6000760 (Positive CSF herpes simplex virus nucleic acid test)\n", + " \n", + " \n", + " Detection of herpes simplex virus (HSV) nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR.\n", + " definition of HP:6000760 (Positive CSF herpes simplex virus nucleic acid test)\n", + " \n", + " \n", + " Abnormal humeral head morphology\n", + " definition of HP:0003887 (Abnormal humeral head morphology)\n", + " \n", + " \n", + " #Abnormal head of long bone in upper arm #Abnormality of the humeral heads\n", + " definition of HP:0003887 (Abnormal humeral head morphology)\n", + " \n", + " \n", + " Triggered by high protein intake\n", + " definition of HP:6001067 (Triggered by high protein intake)\n", + " \n", + " \n", + " Applies to a sign or symptom that is provoked or brought about ingestion of high quantities of protein.\n", + " definition of HP:6001067 (Triggered by high protein intake)\n", + " \n", + " \n", + " #Triggered by protein-rich foods\n", + " definition of HP:6001067 (Triggered by high protein intake)\n", + " \n", + " \n", + " Supravalvular aortic stenosis\n", + " definition of HP:0004381 (Supravalvular aortic stenosis)\n", + " \n", + " \n", + " A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow.\n", + " definition of HP:0004381 (Supravalvular aortic stenosis)\n", + " \n", + " \n", + " Antimitochondrial antibody positivity\n", + " definition of HP:0030167 (Antimitochondrial antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against mitochondria.\n", + " definition of HP:0030167 (Antimitochondrial antibody positivity)\n", + " \n", + " \n", + " #Serum antimitochrondrial antibodies\n", + " definition of HP:0030167 (Antimitochondrial antibody positivity)\n", + " \n", + " \n", + " Abnormal sperm head morphology\n", + " definition of HP:0012865 (Abnormal sperm head morphology)\n", + " \n", + " \n", + " A structural abnormality of the sperm head.\n", + " definition of HP:0012865 (Abnormal sperm head morphology)\n", + " \n", + " \n", + " #Sperm head anomaly\n", + " definition of HP:0012865 (Abnormal sperm head morphology)\n", + " \n", + " \n", + " Non-obstructive azoospermia\n", + " definition of HP:0011961 (Non-obstructive azoospermia)\n", + " \n", + " \n", + " Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy.\n", + " definition of HP:0011961 (Non-obstructive azoospermia)\n", + " \n", + " \n", + " #Testicular azoospermia\n", + " definition of HP:0011961 (Non-obstructive azoospermia)\n", + " \n", + " \n", + " Reduced circulating acetylcarnitine concentration\n", + " definition of HP:0035032 (Reduced circulating acetylcarnitine concentration)\n", + " \n", + " \n", + " Concentration of acetylcarnitine (C2 acylcarnitine) in the blood circulation below the lower limit of normal. Acetylcarnitine has a two-carbon acyl chain.\n", + " definition of HP:0035032 (Reduced circulating acetylcarnitine concentration)\n", + " \n", + " \n", + " #Reduced circulating C2 acylcarnitine concentration\n", + " definition of HP:0035032 (Reduced circulating acetylcarnitine concentration)\n", + " \n", + " \n", + " Bilateral renal agenesis\n", + " definition of HP:0010958 (Bilateral renal agenesis)\n", + " \n", + " \n", + " A bilateral form of agenesis of the kidney.\n", + " definition of HP:0010958 (Bilateral renal agenesis)\n", + " \n", + " \n", + " Giant cell granuloma of mandible\n", + " definition of HP:0100955 (Giant cell granuloma of mandible)\n", + " \n", + " \n", + " Neoplasm of the adrenal cortex\n", + " definition of HP:0100641 (Neoplasm of the adrenal cortex)\n", + " \n", + " \n", + " The presence of a neoplasm of the adrenal cortex.\n", + " definition of HP:0100641 (Neoplasm of the adrenal cortex)\n", + " \n", + " \n", + " #Cortical adrenal neoplasia\n", + " definition of HP:0100641 (Neoplasm of the adrenal cortex)\n", + " \n", + " \n", + " Decreased activity of mitochondrial complex IV\n", + " definition of HP:0008347 (Decreased activity of mitochondrial complex IV)\n", + " \n", + " \n", + " A reduction in the activity of the mitochondrial respiratory chain complex IV, which is part of the electron transport chain in mitochondria.\n", + " definition of HP:0008347 (Decreased activity of mitochondrial complex IV)\n", + " \n", + " \n", + " Increased urine harderoporphyrin level\n", + " definition of HP:0033627 (Increased urine harderoporphyrin level)\n", + " \n", + " \n", + " Concentration of harderoporphyrin in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:0033627 (Increased urine harderoporphyrin level)\n", + " \n", + " \n", + " Arteriovenous fistula\n", + " definition of HP:0004947 (Arteriovenous fistula)\n", + " \n", + " \n", + " An abnormal connection between an artery and vein.\n", + " definition of HP:0004947 (Arteriovenous fistula)\n", + " \n", + " \n", + " #Arteriovenous fistulas\n", + " definition of HP:0004947 (Arteriovenous fistula)\n", + " \n", + " \n", + " Aggressive behavior\n", + " definition of HP:0000718 (Aggressive behavior)\n", + " \n", + " \n", + " Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).\n", + " definition of HP:0000718 (Aggressive behavior)\n", + " \n", + " \n", + " #Aggression #Aggressive behavior #Aggressiveness\n", + " definition of HP:0000718 (Aggressive behavior)\n", + " \n", + " \n", + " Patchy sclerosis of the proximal phalanx of the thumb\n", + " definition of HP:0009634 (Patchy sclerosis of the proximal phalanx of the thumb)\n", + " \n", + " \n", + " An uneven increase in bone density of the proximal phalanx of the thumb.\n", + " definition of HP:0009634 (Patchy sclerosis of the proximal phalanx of the thumb)\n", + " \n", + " \n", + " #Uneven increase in bone density in the innermost thumb bone\n", + " definition of HP:0009634 (Patchy sclerosis of the proximal phalanx of the thumb)\n", + " \n", + " \n", + " Increased circulating selenium concentration\n", + " definition of HP:0033191 (Increased circulating selenium concentration)\n", + " \n", + " \n", + " An increased concentration of selenium in the blood circulation.\n", + " definition of HP:0033191 (Increased circulating selenium concentration)\n", + " \n", + " \n", + " 5-minute APGAR score of 5\n", + " definition of HP:0030925 (5-minute APGAR score of 5)\n", + " \n", + " \n", + " Cleft hard palate\n", + " definition of HP:0410005 (Cleft hard palate)\n", + " \n", + " \n", + " #Cleft bony palate #Cleft of hard palate\n", + " definition of HP:0410005 (Cleft hard palate)\n", + " \n", + " \n", + " Abnormality of facial adipose tissue\n", + " definition of HP:0000291 (Abnormality of facial adipose tissue)\n", + " \n", + " \n", + " #Abnormality of facial fat\n", + " definition of HP:0000291 (Abnormality of facial adipose tissue)\n", + " \n", + " \n", + " Hypotropia\n", + " definition of HP:0025584 (Hypotropia)\n", + " \n", + " \n", + " A form of manifest strabismus (heterotropia) in which one eye is deviated downwards when both eyes are open.\n", + " definition of HP:0025584 (Hypotropia)\n", + " \n", + " \n", + " Ovarian torsion\n", + " definition of HP:0034503 (Ovarian torsion)\n", + " \n", + " \n", + " Ovarian torsion is a twisting of the ligaments that support the adnexa, cutting off the blood flow to the ovary.\n", + " definition of HP:0034503 (Ovarian torsion)\n", + " \n", + " \n", + " Basilar meningeal enhancement\n", + " definition of HP:6000851 (Basilar meningeal enhancement)\n", + " \n", + " \n", + " Abnormal enhancement of CT or MIR contrast medium in the basilar meninges, that is, those located in the basal cisterns or spaces at the base of the brain, due to increased permeability of blood vessels in these areas.\n", + " definition of HP:6000851 (Basilar meningeal enhancement)\n", + " \n", + " \n", + " Decreased proportion of transitional B cells\n", + " definition of HP:0030380 (Decreased proportion of transitional B cells)\n", + " \n", + " \n", + " A reduction in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells.\n", + " definition of HP:0030380 (Decreased proportion of transitional B cells)\n", + " \n", + " \n", + " #Decreased proportion of CD19+CD38+IgM+ cells\n", + " definition of HP:0030380 (Decreased proportion of transitional B cells)\n", + " \n", + " \n", + " Elevated thallium concentration\n", + " definition of HP:6000445 (Elevated thallium concentration)\n", + " \n", + " \n", + " The concentration of thallium in the blood is above the upper limit of a guidance value for total blood mercury concentrations that implies possible injurious effects.\n", + " definition of HP:6000445 (Elevated thallium concentration)\n", + " \n", + " \n", + " Early ossification of capital femoral epiphyses\n", + " definition of HP:0008797 (Early ossification of capital femoral epiphyses)\n", + " \n", + " \n", + " Developmental acceleration of ossification of the proximal epiphysis of the femur.\n", + " definition of HP:0008797 (Early ossification of capital femoral epiphyses)\n", + " \n", + " \n", + " Reduced factor VII activity\n", + " definition of HP:0008169 (Reduced factor VII activity)\n", + " \n", + " \n", + " Reduced activity of coagulation factor VII. Factor VII is part of the extrinsic coagulation pathway, which is initiated at the site of injury in response to the release of tissue factor (fIII). Tissue factor and activated factor VII catalyze the activation of factor X.\n", + " definition of HP:0008169 (Reduced factor VII activity)\n", + " \n", + " \n", + " Delayed thelarche\n", + " definition of HP:0025515 (Delayed thelarche)\n", + " \n", + " \n", + " Later than normal development of the breasts.\n", + " definition of HP:0025515 (Delayed thelarche)\n", + " \n", + " \n", + " Anterior wedging of L1\n", + " definition of HP:0008432 (Anterior wedging of L1)\n", + " \n", + " \n", + " An abnormality of the shape of the lumbar vertebra L1 such that it is wedge-shaped (narrow towards the front).\n", + " definition of HP:0008432 (Anterior wedging of L1)\n", + " \n", + " \n", + " Brittle hair\n", + " definition of HP:0002299 (Brittle hair)\n", + " \n", + " \n", + " Fragile, easily breakable hair, i.e., with reduced tensile strength.\n", + " definition of HP:0002299 (Brittle hair)\n", + " \n", + " \n", + " #Brittle hair\n", + " definition of HP:0002299 (Brittle hair)\n", + " \n", + " \n", + " Severe global developmental delay\n", + " definition of HP:0011344 (Severe global developmental delay)\n", + " \n", + " \n", + " A severe delay in the achievement of motor or mental milestones in the domains of development of a child.\n", + " definition of HP:0011344 (Severe global developmental delay)\n", + " \n", + " \n", + " #Global developmental delay, severe\n", + " definition of HP:0011344 (Severe global developmental delay)\n", + " \n", + " \n", + " Pineal parenchymal cell neoplasm\n", + " definition of HP:0030694 (Pineal parenchymal cell neoplasm)\n", + " \n", + " \n", + " Cholelithiasis\n", + " definition of HP:0001081 (Cholelithiasis)\n", + " \n", + " \n", + " Hard, pebble-like deposits that form within the gallbladder.\n", + " definition of HP:0001081 (Cholelithiasis)\n", + " \n", + " \n", + " #Gallstones\n", + " definition of HP:0001081 (Cholelithiasis)\n", + " \n", + " \n", + " Psoriasiform dermatitis\n", + " definition of HP:0003765 (Psoriasiform dermatitis)\n", + " \n", + " \n", + " A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales).\n", + " definition of HP:0003765 (Psoriasiform dermatitis)\n", + " \n", + " \n", + " #Psoriasis\n", + " definition of HP:0003765 (Psoriasiform dermatitis)\n", + " \n", + " \n", + " Extra-axial cerebrospinal fluid accumulation\n", + " definition of HP:0012510 (Extra-axial cerebrospinal fluid accumulation)\n", + " \n", + " \n", + " An increased amount of cerebrospinal fluid (CSF) in the subarachnoid space.\n", + " definition of HP:0012510 (Extra-axial cerebrospinal fluid accumulation)\n", + " \n", + " \n", + " #Extra-axial CSF accumulation\n", + " definition of HP:0012510 (Extra-axial cerebrospinal fluid accumulation)\n", + " \n", + " \n", + " Cerulean cataract\n", + " definition of HP:0007976 (Cerulean cataract)\n", + " \n", + " \n", + " Cerulean cataracts are a kind of congenital cataract having peripheral bluish and white opacifications in concentric layers with occasional central lesions arranged radially. Although the opacities may be observed during fetal development and childhood, usually visual acuity is only mildly reduced until adulthood, when lens extraction is generally necessary.\n", + " definition of HP:0007976 (Cerulean cataract)\n", + " \n", + " \n", + " #Cataracts, congenital, cerulean\n", + " definition of HP:0007976 (Cerulean cataract)\n", + " \n", + " \n", + " Cholangitis\n", + " definition of HP:0030151 (Cholangitis)\n", + " \n", + " \n", + " Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both.\n", + " definition of HP:0030151 (Cholangitis)\n", + " \n", + " \n", + " #Bile duct inflammation\n", + " definition of HP:0030151 (Cholangitis)\n", + " \n", + " \n", + " Ivory epiphysis of the proximal phalanx of the 2nd finger\n", + " definition of HP:0009530 (Ivory epiphysis of the proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Increased bone density of end part of the innermost bone of the index finger\n", + " definition of HP:0009530 (Ivory epiphysis of the proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Gastric leiomyosarcoma\n", + " definition of HP:0031025 (Gastric leiomyosarcoma)\n", + " \n", + " \n", + " A malignant neoplasm of the stomach that grows submucosally in the gastric wall. Necrosis and hemorrhage may be visible radiologically. Histologically, spindle cells with abnormal mitotic activity may be visible.\n", + " definition of HP:0031025 (Gastric leiomyosarcoma)\n", + " \n", + " \n", + " Ureteral atresia\n", + " definition of HP:0005999 (Ureteral atresia)\n", + " \n", + " \n", + " A developmental defect defined by the failure of the formation of the lumen (tube) of the ureter.\n", + " definition of HP:0005999 (Ureteral atresia)\n", + " \n", + " \n", + " Arachnoid cyst\n", + " definition of HP:0100702 (Arachnoid cyst)\n", + " \n", + " \n", + " An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid.\n", + " definition of HP:0100702 (Arachnoid cyst)\n", + " \n", + " \n", + " #Fluid-filled sac located in membrane surrounding brain or spinal cord\n", + " definition of HP:0100702 (Arachnoid cyst)\n", + " \n", + " \n", + " Dexamethasone-suppressible primary hyperaldosteronism\n", + " definition of HP:0011739 (Dexamethasone-suppressible primary hyperaldosteronism)\n", + " \n", + " \n", + " A form of primary hyperaldosteronism in which the overproduction of aldosterone can be suppressed by the administration of dexamethasone.\n", + " definition of HP:0011739 (Dexamethasone-suppressible primary hyperaldosteronism)\n", + " \n", + " \n", + " Increased OCT-measured foveal thickness\n", + " definition of HP:0030618 (Increased OCT-measured foveal thickness)\n", + " \n", + " \n", + " Overriding atrioventricular valve\n", + " definition of HP:0011561 (Overriding atrioventricular valve)\n", + " \n", + " \n", + " An atrioventricular valve that empties into both ventricles. The valve overrides the interventricular septum above a ventricular septum defect.\n", + " definition of HP:0011561 (Overriding atrioventricular valve)\n", + " \n", + " \n", + " Abnormal line of Schwalbe morphology\n", + " definition of HP:0008048 (Abnormal line of Schwalbe morphology)\n", + " \n", + " \n", + " An abnormality of the line of Schwalbe.\n", + " definition of HP:0008048 (Abnormal line of Schwalbe morphology)\n", + " \n", + " \n", + " #Abnormality of the line of Schwalbe\n", + " definition of HP:0008048 (Abnormal line of Schwalbe morphology)\n", + " \n", + " \n", + " Atlantoaxial instability\n", + " definition of HP:0003467 (Atlantoaxial instability)\n", + " \n", + " \n", + " Abnormally increased movement at the junction between the first cervical (atlas) and the second cervical (axis) vertebrae as a result of either a bony or ligamentous anomaly.\n", + " definition of HP:0003467 (Atlantoaxial instability)\n", + " \n", + " \n", + " Absent axillary hair\n", + " definition of HP:0002221 (Absent axillary hair)\n", + " \n", + " \n", + " Absence of axillary hair.\n", + " definition of HP:0002221 (Absent axillary hair)\n", + " \n", + " \n", + " Renal cortical atrophy\n", + " definition of HP:0002048 (Renal cortical atrophy)\n", + " \n", + " \n", + " Atrophy of the cortex of the kidney.\n", + " definition of HP:0002048 (Renal cortical atrophy)\n", + " \n", + " \n", + " Ecchymosis\n", + " definition of HP:0031364 (Ecchymosis)\n", + " \n", + " \n", + " A purpuric lesion that is larger than 1 cm in diameter.\n", + " definition of HP:0031364 (Ecchymosis)\n", + " \n", + " \n", + " #Ecchymoses\n", + " definition of HP:0031364 (Ecchymosis)\n", + " \n", + " \n", + " Abnormal circulating alpha-fetoprotein concentration\n", + " definition of HP:0045056 (Abnormal circulating alpha-fetoprotein concentration)\n", + " \n", + " \n", + " Concentration of alpha-fetoprotein in the blood circulation outside normal limits.\n", + " definition of HP:0045056 (Abnormal circulating alpha-fetoprotein concentration)\n", + " \n", + " \n", + " Elevated circulating oleylcarnitine concentration\n", + " definition of HP:0033462 (Elevated circulating oleylcarnitine concentration)\n", + " \n", + " \n", + " Increased concentration of oleylcarnitine in the blood circulation.\n", + " definition of HP:0033462 (Elevated circulating oleylcarnitine concentration)\n", + " \n", + " \n", + " #Elevated circulating C18:1 acylcarnitine concentration #Elevated plasma oleylcarnitine, C18:1\n", + " definition of HP:0033462 (Elevated circulating oleylcarnitine concentration)\n", + " \n", + " \n", + " Partial duplication of the proximal phalanx of the 5th finger\n", + " definition of HP:0009996 (Partial duplication of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " Partial or complete duplication of the fifth proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.\n", + " definition of HP:0009996 (Partial duplication of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " #Partial duplication of the innermost little finger bone #Partial duplication of the innermost pinkie finger bone #Partial duplication of the innermost pinky finger bone\n", + " definition of HP:0009996 (Partial duplication of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " Spider hemangioma\n", + " definition of HP:0012522 (Spider hemangioma)\n", + " \n", + " \n", + " A form of telangiectasis characterized by a central elevated red dot the size of a pinhead, representing an arteriole, with numerous small blood vessels that radiate out thereby resembling the legs of a spider. Characteristically, compression of the central arteriole causes the entire lesion to blanch, and the lesion quickly refills once the compression is released.\n", + " definition of HP:0012522 (Spider hemangioma)\n", + " \n", + " \n", + " Reduced tissue alpha-N-acetylglucosaminidase activity\n", + " definition of HP:6000360 (Reduced tissue alpha-N-acetylglucosaminidase activity)\n", + " \n", + " \n", + " Concentration or activity of alpha-N-acetylglucosaminidase (EC 3.2.1.50) below the lower limit of normal. This enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts. It is also known as alpha-acetylglucosaminidase, N-acetyl-alpha-D-glucosaminidase, N-acetyl-alpha-glucosaminidase, and alpha-D-2-acetamido-2-deoxyglucosidase.\n", + " definition of HP:6000360 (Reduced tissue alpha-N-acetylglucosaminidase activity)\n", + " \n", + " \n", + " Absent middle phalanx of 5th finger\n", + " definition of HP:0009162 (Absent middle phalanx of 5th finger)\n", + " \n", + " \n", + " Absence of the middle phalanx of the little (5th) finger.\n", + " definition of HP:0009162 (Absent middle phalanx of 5th finger)\n", + " \n", + " \n", + " #Absent middle bone of little finger #Absent middle bone of pinkie finger #Absent middle bone of pinky finger #Aplasia of the middle phalanx of the 5th finger\n", + " definition of HP:0009162 (Absent middle phalanx of 5th finger)\n", + " \n", + " \n", + " Esophageal spasms\n", + " definition of HP:0025271 (Esophageal spasms)\n", + " \n", + " \n", + " Involuntary contractions of the esophagus that are irregular, uncoordinated, and painful.\n", + " definition of HP:0025271 (Esophageal spasms)\n", + " \n", + " \n", + " Abnormality of dermal melanosomes\n", + " definition of HP:0011125 (Abnormality of dermal melanosomes)\n", + " \n", + " \n", + " An abnormality of the melanosomes, i.e., of the cellular organelles in which melanin pigments are synthesized and stored within melanocytes (the cells that produce pigment in the dermis).\n", + " definition of HP:0011125 (Abnormality of dermal melanosomes)\n", + " \n", + " \n", + " Global systolic dysfunction\n", + " definition of HP:0005185 (Global systolic dysfunction)\n", + " \n", + " \n", + " A reduced ejection fraction and an enlarged left ventricle chamber, the latter by an increased resistance to filling with increased filling pressures. Systolic dysfunction is clinically associated with left ventricular failure in the presence of marked cardiomegaly.\n", + " definition of HP:0005185 (Global systolic dysfunction)\n", + " \n", + " \n", + " Posterior pituitary agenesis\n", + " definition of HP:0011756 (Posterior pituitary agenesis)\n", + " \n", + " \n", + " Absence of the neurohypophysis owing to a developmental defect.\n", + " definition of HP:0011756 (Posterior pituitary agenesis)\n", + " \n", + " \n", + " #Neurohypophysis agenesis\n", + " definition of HP:0011756 (Posterior pituitary agenesis)\n", + " \n", + " \n", + " Amelia\n", + " definition of HP:0009827 (Amelia)\n", + " \n", + " \n", + " Congenital absence (aplasia) of one or more limbs.\n", + " definition of HP:0009827 (Amelia)\n", + " \n", + " \n", + " Impaired sensitivity to thyroid hormone\n", + " definition of HP:0002930 (Impaired sensitivity to thyroid hormone)\n", + " \n", + " \n", + " Reduced sensitivity of end organs to thyroid hormone characterized by elevated serum levels of free thyroid hormone with nonsuppressed thyroid stimulating hormone.\n", + " definition of HP:0002930 (Impaired sensitivity to thyroid hormone)\n", + " \n", + " \n", + " #Elevated serum levels of free thyroid hormone with nonsuppressed TSH #End-organ unresponsiveness to thyroid hormone #Resistance to thyroid hormone #Thyroid hormone receptor defect #Thyroid hormone resistance\n", + " definition of HP:0002930 (Impaired sensitivity to thyroid hormone)\n", + " \n", + " \n", + " Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal\n", + " definition of HP:0009598 (Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal)\n", + " \n", + " \n", + " Fusion of the proximal phalanx of the 2nd finger with the 2nd metacarpal.\n", + " definition of HP:0009598 (Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal)\n", + " \n", + " \n", + " #Fused innermost bone of index finger with 2nd long bone of hand\n", + " definition of HP:0009598 (Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal)\n", + " \n", + " \n", + " Agenesis of primary maxillary lateral incisor\n", + " definition of HP:0011049 (Agenesis of primary maxillary lateral incisor)\n", + " \n", + " \n", + " Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor.\n", + " definition of HP:0011049 (Agenesis of primary maxillary lateral incisor)\n", + " \n", + " \n", + " #Agenesis of deciduous maxillary lateral incisor #Failure of development of deciduous maxillary lateral incisor #Failure of development of primary maxillary lateral incisor\n", + " definition of HP:0011049 (Agenesis of primary maxillary lateral incisor)\n", + " \n", + " \n", + " Multiple non-erupting secondary teeth\n", + " definition of HP:0006321 (Multiple non-erupting secondary teeth)\n", + " \n", + " \n", + " #Failure of eruption of multiple adult teeth #Failure of eruption of multiple permanent teeth #Multiple non-erupting adult teeth #Multiple non-erupting permanent teeth #Multiple unerupted adult teeth #Multiple unerupted permanent teeth\n", + " definition of HP:0006321 (Multiple non-erupting secondary teeth)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the 5th toe\n", + " definition of HP:0010343 (Aplasia/Hypoplasia of the 5th toe)\n", + " \n", + " \n", + " #Absent/small little toe #Absent/small pinkie toe #Absent/small pinky toe #Absent/underdeveloped pinky toe\n", + " definition of HP:0010343 (Aplasia/Hypoplasia of the 5th toe)\n", + " \n", + " \n", + " Vertebral artery hypoplasia\n", + " definition of HP:0030322 (Vertebral artery hypoplasia)\n", + " \n", + " \n", + " Underdevelopment of the vertebral artery.\n", + " definition of HP:0030322 (Vertebral artery hypoplasia)\n", + " \n", + " \n", + " Myoclonic status epilepticus with coma\n", + " definition of HP:0032669 (Myoclonic status epilepticus with coma)\n", + " \n", + " \n", + " A type of myoclonic status epilepticus in the presence of coma.\n", + " definition of HP:0032669 (Myoclonic status epilepticus with coma)\n", + " \n", + " \n", + " Coronary sinus atrial septal defect\n", + " definition of HP:0011643 (Coronary sinus atrial septal defect)\n", + " \n", + " \n", + " An atrial septal defect characterized by a deficiency in the tissue separating the coronary sinus from the left atrium (LA). This results in partial or complete unroofing of the coronary sinus leading to a predominantly left-to-right shunt through the coronary sinus (LA to coronary sinus to right atrium [RA]). The orifice of the ostium is frequently large because of the increased flow. From the RA side, the defect is located at the level of the coronary sinus ostium and may also include some deficiency in atrial tissue around the ostium. From the LA side, the size can be variable depending on the degree of unroofing of the coronary sinus.\n", + " definition of HP:0011643 (Coronary sinus atrial septal defect)\n", + " \n", + " \n", + " Anti-Zic4 antibody positivity\n", + " definition of HP:5000039 (Anti-Zic4 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Zic family member 4 (ZIC4).\n", + " definition of HP:5000039 (Anti-Zic4 antibody positivity)\n", + " \n", + " \n", + " Visual loss\n", + " definition of HP:0000572 (Visual loss)\n", + " \n", + " \n", + " Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).\n", + " definition of HP:0000572 (Visual loss)\n", + " \n", + " \n", + " #Loss of vision #Vision loss #Visual loss\n", + " definition of HP:0000572 (Visual loss)\n", + " \n", + " \n", + " Abnormal CSF glutamine family amino acid concentration\n", + " definition of HP:0500195 (Abnormal CSF glutamine family amino acid concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of glutamine-family amino acids in the cerebrospinal fluid.\n", + " definition of HP:0500195 (Abnormal CSF glutamine family amino acid concentration)\n", + " \n", + " \n", + " #Abnormal glutamine family amino acid levels in cerebrospinal fluid\n", + " definition of HP:0500195 (Abnormal CSF glutamine family amino acid concentration)\n", + " \n", + " \n", + " Abnormal alveolar volume\n", + " definition of HP:0033632 (Abnormal alveolar volume)\n", + " \n", + " \n", + " Alveolar volume (VA) is a volume accessible during 10-second breath-hold, measured during a single breath maneuver. VA is calculated by knowing the fractional concentration of the tracer gas (eg helium) and the volume of the gas inhaled. VA = Vi*(Fi tracer/Fa tracer). In this equation, Vi = inspired volume of tracer gas, Fi tracer= inspired fraction of tracer gas, Fa tracer = alveolar (exhaled) fraction of tracer gas.\n", + " definition of HP:0033632 (Abnormal alveolar volume)\n", + " \n", + " \n", + " Abnormal manganese concentration\n", + " definition of HP:0032096 (Abnormal manganese concentration)\n", + " \n", + " \n", + " A deviation from the normal range of manganese in the blood circulation.\n", + " definition of HP:0032096 (Abnormal manganese concentration)\n", + " \n", + " \n", + " Narrow nose\n", + " definition of HP:0000460 (Narrow nose)\n", + " \n", + " \n", + " Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae.\n", + " definition of HP:0000460 (Narrow nose)\n", + " \n", + " \n", + " #Decreased nasal breadth #Decreased nasal width #Narrow nose #Thin nose\n", + " definition of HP:0000460 (Narrow nose)\n", + " \n", + " \n", + " Abnormality of the extrinsic pathway\n", + " definition of HP:0010988 (Abnormality of the extrinsic pathway)\n", + " \n", + " \n", + " An abnormality of the extrinsic pathway (also known as the tissue factor pathway) of the coagulation cascade.\n", + " definition of HP:0010988 (Abnormality of the extrinsic pathway)\n", + " \n", + " \n", + " Buttock pain\n", + " definition of HP:0034805 (Buttock pain)\n", + " \n", + " \n", + " An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the buttock (round fleshy area at the lower rear area of a human trunk).\n", + " definition of HP:0034805 (Buttock pain)\n", + " \n", + " \n", + " Osmotic diarrhea\n", + " definition of HP:0033310 (Osmotic diarrhea)\n", + " \n", + " \n", + " Osmotic diarrhea results from the presence of osmotically active, poorly absorbed solutes in the bowel lumen that inhibit normal water and electrolyte absorption.\n", + " definition of HP:0033310 (Osmotic diarrhea)\n", + " \n", + " \n", + " Traction bronchiectasis\n", + " definition of HP:0032969 (Traction bronchiectasis)\n", + " \n", + " \n", + " Distortion of the bronchial airways due to mechanical traction on the bronchi resulting from fibrosis of the surrounding lung parenchyma. CT findings represent irregular bronchial dilatation caused by surrounding retractile pulmonary fibrosis. Dilated airways are usually identifiable as such but may be seen as cysts.\n", + " definition of HP:0032969 (Traction bronchiectasis)\n", + " \n", + " \n", + " Dense metaphyseal bands\n", + " definition of HP:0100959 (Dense metaphyseal bands)\n", + " \n", + " \n", + " Dense radiopaque bands of bone which are thicker than the adjacent diaphyseal cortex and may form at the metaphysis of growing bones. They appear on radiographs as bone that is more radiopaque that the adjacent diaphyseal cortex.\n", + " definition of HP:0100959 (Dense metaphyseal bands)\n", + " \n", + " \n", + " #Dense metaphyseal band sign #Dense metaphyseal lines #Lead lines in metaphyses of bones #Transverse metaphyseal bands\n", + " definition of HP:0100959 (Dense metaphyseal bands)\n", + " \n", + " \n", + " Abnormal ankle morphology\n", + " definition of HP:0034673 (Abnormal ankle morphology)\n", + " \n", + " \n", + " A structural anomaly of the ankle.\n", + " definition of HP:0034673 (Abnormal ankle morphology)\n", + " \n", + " \n", + " Bullet-shaped proximal phalanx of the 2nd toe\n", + " definition of HP:0010397 (Bullet-shaped proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " An abnormal morphology of the proximal phalanx of the 2nd toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.\n", + " definition of HP:0010397 (Bullet-shaped proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Bullet-shaped innermost bone of 2nd toe\n", + " definition of HP:0010397 (Bullet-shaped proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Capillary leak\n", + " definition of HP:0030005 (Capillary leak)\n", + " \n", + " \n", + " An acute phenomenon characterized by hypotension and anasarca due to the loss of plasma volume into peripheral tissues, with evidence of decreased plasma volume (hemoconcentration) and protein loss from the intravascular space (hypoalbuminemia) during acute episodes.\n", + " definition of HP:0030005 (Capillary leak)\n", + " \n", + " \n", + " #Increased capillary permeability\n", + " definition of HP:0030005 (Capillary leak)\n", + " \n", + " \n", + " Ash-leaf spot\n", + " definition of HP:0030679 (Ash-leaf spot)\n", + " \n", + " \n", + " A hypopigmented spot in the shape of a leaf from the mountain ash tree.\n", + " definition of HP:0030679 (Ash-leaf spot)\n", + " \n", + " \n", + " Peripheral axon spheroid formation\n", + " definition of HP:0034922 (Peripheral axon spheroid formation)\n", + " \n", + " \n", + " Axonal spheroids are bubble-like biological features that form on most degenerating axons.\n", + " definition of HP:0034922 (Peripheral axon spheroid formation)\n", + " \n", + " \n", + " Positive urine barbiturate test\n", + " definition of HP:0500109 (Positive urine barbiturate test)\n", + " \n", + " \n", + " Detection of barbiturate metabolites such as Phenobarbital in urine.\n", + " definition of HP:0500109 (Positive urine barbiturate test)\n", + " \n", + " \n", + " Complete unilateral cleft lip\n", + " definition of HP:5201001 (Complete unilateral cleft lip)\n", + " \n", + " \n", + " Unilateral cleft lip cleft that starts from the bottom of the upper lip and reaches the nasal cavity.\n", + " definition of HP:5201001 (Complete unilateral cleft lip)\n", + " \n", + " \n", + " Folie à deux\n", + " definition of HP:5200418 (Folie à deux)\n", + " \n", + " \n", + " Delusional beliefs are transmitted from one individual to another.\n", + " definition of HP:5200418 (Folie à deux)\n", + " \n", + " \n", + " #Shared psychosis\n", + " definition of HP:5200418 (Folie à deux)\n", + " \n", + " \n", + " Ileal ulcer\n", + " definition of HP:0032024 (Ileal ulcer)\n", + " \n", + " \n", + " An erosion of the mucous membrane in a portion of the ileum.\n", + " definition of HP:0032024 (Ileal ulcer)\n", + " \n", + " \n", + " Mitochondrial propionyl-CoA carboxylase defect\n", + " definition of HP:0003288 (Mitochondrial propionyl-CoA carboxylase defect)\n", + " \n", + " \n", + " #Mitochondrial PCC defect\n", + " definition of HP:0003288 (Mitochondrial propionyl-CoA carboxylase defect)\n", + " \n", + " \n", + " Swan neck-like deformities of the fingers\n", + " definition of HP:0006150 (Swan neck-like deformities of the fingers)\n", + " \n", + " \n", + " A swan neck deformity describes a finger with a hyperextended PIP joint and a flexed DIP joint. The most common cause for a swan neck-like deformity is a disruption of the end of the extensor tendon. Conditions that loosen the PIP joint and allow it to hyperextend, for example conditions that weaken the volar plate, can produce a swan neck deformity of the finger. One example is rheumatoid arthritis. Another cause are conditions that tighten up the small (intrinsic) muscles of the hand and fingers, for example hand trauma or nerve disorders, such as cerebral palsy, Parkinson's disease, or stroke.\n", + " definition of HP:0006150 (Swan neck-like deformities of the fingers)\n", + " \n", + " \n", + " Cone-shaped epiphysis of the distal phalanx of the 5th toe\n", + " definition of HP:0100204 (Cone-shaped epiphysis of the distal phalanx of the 5th toe)\n", + " \n", + " \n", + " #Cone-shaped end part of the outermost bone of the little toe #Cone-shaped end part of the outermost bone of the pinkie toe #Cone-shaped end part of the outermost bone of the pinky toe\n", + " definition of HP:0100204 (Cone-shaped epiphysis of the distal phalanx of the 5th toe)\n", + " \n", + " \n", + " Abnormal synaptic transmission\n", + " definition of HP:0012535 (Abnormal synaptic transmission)\n", + " \n", + " \n", + " An anomaly in the communication from a neuron to a target across a synapse. This is a four step process, comprising (i) synthesis and storage of neurotransmitters; (ii) neurotransmitter release; (iii) activation of postsynaptic receptors by the neurotransmitter; and (iv) inactivation of the neurotransmitter. Thus, this term is defined as an anomaly of neurotransmitter metabolic process.\n", + " definition of HP:0012535 (Abnormal synaptic transmission)\n", + " \n", + " \n", + " #Abnormality of neurotransmitter metabolism\n", + " definition of HP:0012535 (Abnormal synaptic transmission)\n", + " \n", + " \n", + " Health status\n", + " definition of HP:0032319 (Health status)\n", + " \n", + " \n", + " Health status of a family member with respect to the disease being investigated in a proband.\n", + " definition of HP:0032319 (Health status)\n", + " \n", + " \n", + " Upper limb muscle weakness\n", + " definition of HP:0003484 (Upper limb muscle weakness)\n", + " \n", + " \n", + " Weakness of the muscles of the arms.\n", + " definition of HP:0003484 (Upper limb muscle weakness)\n", + " \n", + " \n", + " #Decreased arm strength #Weak arm\n", + " definition of HP:0003484 (Upper limb muscle weakness)\n", + " \n", + " \n", + " Abnormal PR interval\n", + " definition of HP:0031593 (Abnormal PR interval)\n", + " \n", + " \n", + " An anomaly of the PR interval, which is the portion of the ECG from the onset of the P wave to the beginning of the QRS complex. A normal PR interval in adults is 0.12-0.2 seconds.\n", + " definition of HP:0031593 (Abnormal PR interval)\n", + " \n", + " \n", + " Short proximal phalanx of the 5th finger\n", + " definition of HP:0009226 (Short proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " Hypoplastic/small proximal phalanx of the fifth finger.\n", + " definition of HP:0009226 (Short proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " #Hypoplastic/small proximal phalanx of the 5th finger #Short innermost little finger bone #Short innermost pinkie finger bone #Short innermost pinky finger bone #Short proximal phalanx of the fifth finger\n", + " definition of HP:0009226 (Short proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " Narrow vertebral interpedicular distance\n", + " definition of HP:0008450 (Narrow vertebral interpedicular distance)\n", + " \n", + " \n", + " A reduction of the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces.\n", + " definition of HP:0008450 (Narrow vertebral interpedicular distance)\n", + " \n", + " \n", + " #Interpedicular narrowing #Narrow interpedicular space #Narrow interpediculate distances #Narrowing of interpediculate distances\n", + " definition of HP:0008450 (Narrow vertebral interpedicular distance)\n", + " \n", + " \n", + " Bacterial endocarditis\n", + " definition of HP:0006689 (Bacterial endocarditis)\n", + " \n", + " \n", + " A bacterial infection of the endocardium, the inner layer of the heart, which usually involves the heart valves.\n", + " definition of HP:0006689 (Bacterial endocarditis)\n", + " \n", + " \n", + " #Infective endocarditis\n", + " definition of HP:0006689 (Bacterial endocarditis)\n", + " \n", + " \n", + " Broad proximal phalanges of the hand\n", + " definition of HP:0009852 (Broad proximal phalanges of the hand)\n", + " \n", + " \n", + " Increased width of the proximal phalanges of the finger.\n", + " definition of HP:0009852 (Broad proximal phalanges of the hand)\n", + " \n", + " \n", + " #Broad innermost finger bones of the hand #Wide innermost finger bones of the hand\n", + " definition of HP:0009852 (Broad proximal phalanges of the hand)\n", + " \n", + " \n", + " Alveolar capillary dysplasia\n", + " definition of HP:0033208 (Alveolar capillary dysplasia)\n", + " \n", + " \n", + " A developmental defect of the alveolar airspace during cananicular lung development characterized by a decreased number of pulmonary capillaries located away from the alveolar epithelium, thickened alveolar septae, media hypertrophy of small pulmonary arteries and muscularization of distal arterioles, and in some cases lymphangiectasis.\n", + " definition of HP:0033208 (Alveolar capillary dysplasia)\n", + " \n", + " \n", + " Myeloid leukemia\n", + " definition of HP:0012324 (Myeloid leukemia)\n", + " \n", + " \n", + " A leukemia that originates from a myeloid cell, that is the blood forming cells of the bone marrow.\n", + " definition of HP:0012324 (Myeloid leukemia)\n", + " \n", + " \n", + " #Myeloid leukaemia\n", + " definition of HP:0012324 (Myeloid leukemia)\n", + " \n", + " \n", + " Foveal hypopigmentation\n", + " definition of HP:0012643 (Foveal hypopigmentation)\n", + " \n", + " \n", + " Decreased amount of pigmentation in the fovea centralis.\n", + " definition of HP:0012643 (Foveal hypopigmentation)\n", + " \n", + " \n", + " Abnormality of urine calcium concentration\n", + " definition of HP:0011280 (Abnormality of urine calcium concentration)\n", + " \n", + " \n", + " An abnormality of calcium concentration in the urine.\n", + " definition of HP:0011280 (Abnormality of urine calcium concentration)\n", + " \n", + " \n", + " #Abnormality of urine Ca concentration #Abnormality of urine Ca2+ concentration\n", + " definition of HP:0011280 (Abnormality of urine calcium concentration)\n", + " \n", + " \n", + " Irregular ossification of hand bones\n", + " definition of HP:0004280 (Irregular ossification of hand bones)\n", + " \n", + " \n", + " Postural hypotension with compensatory tachycardia\n", + " definition of HP:0005307 (Postural hypotension with compensatory tachycardia)\n", + " \n", + " \n", + " Annular cutaneous lesion\n", + " definition of HP:0025528 (Annular cutaneous lesion)\n", + " \n", + " \n", + " A lesion of the skin with a ring-like distribution.\n", + " definition of HP:0025528 (Annular cutaneous lesion)\n", + " \n", + " \n", + " Cupped metaphyses of hand bones\n", + " definition of HP:0004273 (Cupped metaphyses of hand bones)\n", + " \n", + " \n", + " #Cupped metaphysis of hand bones #Cupped wide portion of hand bones\n", + " definition of HP:0004273 (Cupped metaphyses of hand bones)\n", + " \n", + " \n", + " Hyperdense pulmonary mass\n", + " definition of HP:0033830 (Hyperdense pulmonary mass)\n", + " \n", + " \n", + " A type of pulmonary mass with high attenuation.\n", + " definition of HP:0033830 (Hyperdense pulmonary mass)\n", + " \n", + " \n", + " Reduced tissue mannosyl-oligosaccharide glucosidase activity\n", + " definition of HP:6000576 (Reduced tissue mannosyl-oligosaccharide glucosidase activity)\n", + " \n", + " \n", + " Activity of mannosyl-oligosaccharide glucosidase (MOGS) in tissues below the lower limit of normal. MOGS activity can be measured in multiple tissues including liver and cultured fibroblasts.\n", + " definition of HP:6000576 (Reduced tissue mannosyl-oligosaccharide glucosidase activity)\n", + " \n", + " \n", + " Abnormal meningeal morphology\n", + " definition of HP:0010651 (Abnormal meningeal morphology)\n", + " \n", + " \n", + " An abnormality of the Meninges, including any abnormality of the Dura mater, the Arachnoid mater, and the Pia mater.\n", + " definition of HP:0010651 (Abnormal meningeal morphology)\n", + " \n", + " \n", + " #Abnormality of the meninges\n", + " definition of HP:0010651 (Abnormal meningeal morphology)\n", + " \n", + " \n", + " Abnormality of the third metatarsal bone\n", + " definition of HP:0010672 (Abnormality of the third metatarsal bone)\n", + " \n", + " \n", + " An abnormality of the third metatarsal bone.\n", + " definition of HP:0010672 (Abnormality of the third metatarsal bone)\n", + " \n", + " \n", + " #Abnormality of the 3rd long bone of foot\n", + " definition of HP:0010672 (Abnormality of the third metatarsal bone)\n", + " \n", + " \n", + " Pachygyria with 5-10 mm cortical thickness\n", + " definition of HP:0020192 (Pachygyria with 5-10 mm cortical thickness)\n", + " \n", + " \n", + " Pachygyria with a mildly thickened cerebral cortex measuring 5-10 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age.\n", + " definition of HP:0020192 (Pachygyria with 5-10 mm cortical thickness)\n", + " \n", + " \n", + " Renal dysplasia\n", + " definition of HP:0000110 (Renal dysplasia)\n", + " \n", + " \n", + " The presence of developmental dysplasia of the kidney.\n", + " definition of HP:0000110 (Renal dysplasia)\n", + " \n", + " \n", + " #Dysplastic kidneys #Renal adysplasia\n", + " definition of HP:0000110 (Renal dysplasia)\n", + " \n", + " \n", + " Accumulation of lipid droplets in small-bowel enterocytes\n", + " definition of HP:0034787 (Accumulation of lipid droplets in small-bowel enterocytes)\n", + " \n", + " \n", + " Signet ring sign\n", + " definition of HP:0032175 (Signet ring sign)\n", + " \n", + " \n", + " This finding is composed of a ring-shaped opacity representing a dilated bronchus in cross section and a smaller adjacent opacity representing its pulmonary artery, with the combination resembling a signet (or pearl) ring. It is the basic sign of bronchiectasis in pulmonary computed tomography imaging.\n", + " definition of HP:0032175 (Signet ring sign)\n", + " \n", + " \n", + " Male anorgasmia\n", + " definition of HP:0040308 (Male anorgasmia)\n", + " \n", + " \n", + " Inability of a male to reach orgasm.\n", + " definition of HP:0040308 (Male anorgasmia)\n", + " \n", + " \n", + " Gastrointestinal eosinophilia\n", + " definition of HP:0032064 (Gastrointestinal eosinophilia)\n", + " \n", + " \n", + " Eosinophilic infiltration of one or more gastrointestinal organs. Gastrointestinal eosinophilia is a broad term for abnormal eosinophil accumulation in the GI tract, involving many different disease identities. These diseases include primary eosinophil associated gastrointestinal diseases, gastrointestinal eosinophilia in HES and all gastrointestinal eosinophilic states associated with known causes. Each of these diseases has its unique features but there is no absolute boundary between them.\n", + " definition of HP:0032064 (Gastrointestinal eosinophilia)\n", + " \n", + " \n", + " #Eosinophilic enteritis #Eosinophilic gastroenteritis #GI eosinophilia\n", + " definition of HP:0032064 (Gastrointestinal eosinophilia)\n", + " \n", + " \n", + " Arcuate artery endoarterial neutrophil hypercellularity\n", + " definition of HP:0033929 (Arcuate artery endoarterial neutrophil hypercellularity)\n", + " \n", + " \n", + " A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils withinin the lumen of arcuate artery.\n", + " definition of HP:0033929 (Arcuate artery endoarterial neutrophil hypercellularity)\n", + " \n", + " \n", + " #Endoarterial hypercellularity within arcuate artery consisting of neutrophils\n", + " definition of HP:0033929 (Arcuate artery endoarterial neutrophil hypercellularity)\n", + " \n", + " \n", + " Pointed ulnar metaphysis\n", + " definition of HP:0004044 (Pointed ulnar metaphysis)\n", + " \n", + " \n", + " Abnormal circulating lipid concentration\n", + " definition of HP:0003119 (Abnormal circulating lipid concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of a lipid in the blood circulation.\n", + " definition of HP:0003119 (Abnormal circulating lipid concentration)\n", + " \n", + " \n", + " Proximal femoral metaphyseal irregularity\n", + " definition of HP:0003411 (Proximal femoral metaphyseal irregularity)\n", + " \n", + " \n", + " Irregularity of the normally smooth surface of the proximal metaphysis of the femur.\n", + " definition of HP:0003411 (Proximal femoral metaphyseal irregularity)\n", + " \n", + " \n", + " #Irregular proximal femoral metaphyses\n", + " definition of HP:0003411 (Proximal femoral metaphyseal irregularity)\n", + " \n", + " \n", + " Sclerosis of the distal phalanx of the 5th toe\n", + " definition of HP:0100942 (Sclerosis of the distal phalanx of the 5th toe)\n", + " \n", + " \n", + " #Increased bone density in the outermost bone of the little toe #Increased bone density in the outermost bone of the pinkie toe #Increased bone density in the outermost bone of the pinky toe\n", + " definition of HP:0100942 (Sclerosis of the distal phalanx of the 5th toe)\n", + " \n", + " \n", + " Congruous homonymous hemianopia\n", + " definition of HP:0030518 (Congruous homonymous hemianopia)\n", + " \n", + " \n", + " #Congruous hemianopsia\n", + " definition of HP:0030518 (Congruous homonymous hemianopia)\n", + " \n", + " \n", + " Abnormal tricuspid valve physiology\n", + " definition of HP:0031651 (Abnormal tricuspid valve physiology)\n", + " \n", + " \n", + " Any functional defect of the tricuspid valve.\n", + " definition of HP:0031651 (Abnormal tricuspid valve physiology)\n", + " \n", + " \n", + " Grade III preterm intraventricular hemorrhage\n", + " definition of HP:0030750 (Grade III preterm intraventricular hemorrhage)\n", + " \n", + " \n", + " Intraventricular hemorrhage that occurs in a preterm infant and that has extension into dilated ventricles.\n", + " definition of HP:0030750 (Grade III preterm intraventricular hemorrhage)\n", + " \n", + " \n", + " #Grade III preterm intraventricular haemorrhage\n", + " definition of HP:0030750 (Grade III preterm intraventricular hemorrhage)\n", + " \n", + " \n", + " Abnormal preputium morphology\n", + " definition of HP:0100587 (Abnormal preputium morphology)\n", + " \n", + " \n", + " An abnormality of the retractable fold of skin that covers the tip of the penis.\n", + " definition of HP:0100587 (Abnormal preputium morphology)\n", + " \n", + " \n", + " #Abnormality of the preputium\n", + " definition of HP:0100587 (Abnormal preputium morphology)\n", + " \n", + " \n", + " Reduced muscle 2,4-dienoyl-CoA reductase activity\n", + " definition of HP:0034918 (Reduced muscle 2,4-dienoyl-CoA reductase activity)\n", + " \n", + " \n", + " Diminished activity of the enzyme 2,4-dienoyl-CoA reductase in muscle tissue.\n", + " definition of HP:0034918 (Reduced muscle 2,4-dienoyl-CoA reductase activity)\n", + " \n", + " \n", + " #Muscle biopsy: 2,4-dienoyl-CoA reductase activity low\n", + " definition of HP:0034918 (Reduced muscle 2,4-dienoyl-CoA reductase activity)\n", + " \n", + " \n", + " Ependymoblastoma\n", + " definition of HP:0030066 (Ependymoblastoma)\n", + " \n", + " \n", + " A highly malignant embryonal tumor of infancy and young childhood characterized by neuroectodermal elements organized in distinctive multilayered rosettes. Ependymoblastomas are large lesions that occur in the supratentorial compartment, typically displaying a physical connection to the ventricular system.\n", + " definition of HP:0030066 (Ependymoblastoma)\n", + " \n", + " \n", + " Myeloproliferative disorder\n", + " definition of HP:0005547 (Myeloproliferative disorder)\n", + " \n", + " \n", + " Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential.\n", + " definition of HP:0005547 (Myeloproliferative disorder)\n", + " \n", + " \n", + " Broad proximal phalanx of the 5th toe\n", + " definition of HP:0100430 (Broad proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " #Broad innermost bone of the little toe #Broad innermost bone of the pinkie toe #Broad innermost bone of the pinky toe\n", + " definition of HP:0100430 (Broad proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " Neonatal sepsis\n", + " definition of HP:0040187 (Neonatal sepsis)\n", + " \n", + " \n", + " Systemic inflammatory response to infection in newborn babies.\n", + " definition of HP:0040187 (Neonatal sepsis)\n", + " \n", + " \n", + " Hip adductor weakness\n", + " definition of HP:0033416 (Hip adductor weakness)\n", + " \n", + " \n", + " Reduced ability to bring the leg toward the midline of the body.\n", + " definition of HP:0033416 (Hip adductor weakness)\n", + " \n", + " \n", + " Increased high-mannose N-glycan level\n", + " definition of HP:0410357 (Increased high-mannose N-glycan level)\n", + " \n", + " \n", + " An abnormal increase in the concentration of high-mannose N-glycans on glycoproteins.\n", + " definition of HP:0410357 (Increased high-mannose N-glycan level)\n", + " \n", + " \n", + " #Increased high-mannose N-glycans on glycoprotein concentration\n", + " definition of HP:0410357 (Increased high-mannose N-glycan level)\n", + " \n", + " \n", + " Abnormal circulating aromatic amino acid concentration\n", + " definition of HP:0004338 (Abnormal circulating aromatic amino acid concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of a aromatic amino acid in the blood circulation.\n", + " definition of HP:0004338 (Abnormal circulating aromatic amino acid concentration)\n", + " \n", + " \n", + " #Abnormality of aromatic amino acid family metabolism\n", + " definition of HP:0004338 (Abnormal circulating aromatic amino acid concentration)\n", + " \n", + " \n", + " Abnormality of the lumbosacral nerve plexus\n", + " definition of HP:0045053 (Abnormality of the lumbosacral nerve plexus)\n", + " \n", + " \n", + " Any abnormality of the lumbosacral nerve plexus.\n", + " definition of HP:0045053 (Abnormality of the lumbosacral nerve plexus)\n", + " \n", + " \n", + " Adenoiditis\n", + " definition of HP:0031458 (Adenoiditis)\n", + " \n", + " \n", + " An inflammation of the adenoid tissue.\n", + " definition of HP:0031458 (Adenoiditis)\n", + " \n", + " \n", + " Increased fetal lens echogenicity\n", + " definition of HP:0034248 (Increased fetal lens echogenicity)\n", + " \n", + " \n", + " Increased echogenicity (increased brightness in the gray-scale sonography image) of the lens of a fetus.\n", + " definition of HP:0034248 (Increased fetal lens echogenicity)\n", + " \n", + " \n", + " Abnormal foveal pit on macular OCT\n", + " definition of HP:0030622 (Abnormal foveal pit on macular OCT)\n", + " \n", + " \n", + " Tortuous appearance of the stomach\n", + " definition of HP:6000987 (Tortuous appearance of the stomach)\n", + " \n", + " \n", + " Abnormal twisting or winding of the stomach.\n", + " definition of HP:6000987 (Tortuous appearance of the stomach)\n", + " \n", + " \n", + " Abnormal circulating luteinizing hormone concentration\n", + " definition of HP:0030345 (Abnormal circulating luteinizing hormone concentration)\n", + " \n", + " \n", + " An anomaly of the circulating level of luteinizing hormone (LH).\n", + " definition of HP:0030345 (Abnormal circulating luteinizing hormone concentration)\n", + " \n", + " \n", + " #Abnormal circulating luteinizing hormone level #Abnormal luteinizing hormone level #Increased circulating lutropin\n", + " definition of HP:0030345 (Abnormal circulating luteinizing hormone concentration)\n", + " \n", + " \n", + " Glomerular sclerosis\n", + " definition of HP:0000096 (Glomerular sclerosis)\n", + " \n", + " \n", + " Accumulation of scar tissue within the glomerulus.\n", + " definition of HP:0000096 (Glomerular sclerosis)\n", + " \n", + " \n", + " #Glomerulosclerosis\n", + " definition of HP:0000096 (Glomerular sclerosis)\n", + " \n", + " \n", + " Increased density of long bone diaphyses\n", + " definition of HP:0006440 (Increased density of long bone diaphyses)\n", + " \n", + " \n", + " #Increased density of shaft of long bone\n", + " definition of HP:0006440 (Increased density of long bone diaphyses)\n", + " \n", + " \n", + " Decreased number of large peripheral myelinated nerve fibers\n", + " definition of HP:0003387 (Decreased number of large peripheral myelinated nerve fibers)\n", + " \n", + " \n", + " A reduced number of large myelinated nerve fibers.\n", + " definition of HP:0003387 (Decreased number of large peripheral myelinated nerve fibers)\n", + " \n", + " \n", + " #Decreased number of large peripheral myelinated nerve fibres #Depletion of large myelinated fibers #Depletion of large myelinated fibres #Loss of large myelinated fibers #Loss of large myelinated fibres #Loss of larger myelinated nerve fibers #Loss of larger myelinated nerve fibres\n", + " definition of HP:0003387 (Decreased number of large peripheral myelinated nerve fibers)\n", + " \n", + " \n", + " Exostoses of the radius\n", + " definition of HP:0003986 (Exostoses of the radius)\n", + " \n", + " \n", + " Dilatation of the mitral annulus\n", + " definition of HP:0031479 (Dilatation of the mitral annulus)\n", + " \n", + " \n", + " An increase in the diameter of the ring (annulus) of the mitral valve.\n", + " definition of HP:0031479 (Dilatation of the mitral annulus)\n", + " \n", + " \n", + " Increased anti-house dust mite IgE antibody level\n", + " definition of HP:0410248 (Increased anti-house dust mite IgE antibody level)\n", + " \n", + " \n", + " Increased level of IgE antibody against house dust mites, a common allergen.\n", + " definition of HP:0410248 (Increased anti-house dust mite IgE antibody level)\n", + " \n", + " \n", + " #Increased anti-house dust IgE antibody level #Increased level of anti-house dust IgE antibody\n", + " definition of HP:0410248 (Increased anti-house dust mite IgE antibody level)\n", + " \n", + " \n", + " Abnormal stool urobilinogen concentration\n", + " definition of HP:0500114 (Abnormal stool urobilinogen concentration)\n", + " \n", + " \n", + " Abnormal concentration of urobilinogen present in the stool.\n", + " definition of HP:0500114 (Abnormal stool urobilinogen concentration)\n", + " \n", + " \n", + " Abnormal CNS myelination\n", + " definition of HP:0011400 (Abnormal CNS myelination)\n", + " \n", + " \n", + " An abnormality of myelination of nerves in the central nervous system.\n", + " definition of HP:0011400 (Abnormal CNS myelination)\n", + " \n", + " \n", + " #Abnormal formation of myelin sheaths\n", + " definition of HP:0011400 (Abnormal CNS myelination)\n", + " \n", + " \n", + " Palatal edema\n", + " definition of HP:0031089 (Palatal edema)\n", + " \n", + " \n", + " Swelling related to fluid accumulation within the palate.\n", + " definition of HP:0031089 (Palatal edema)\n", + " \n", + " \n", + " #Palatal oedema #Palate edema #Palate oedema\n", + " definition of HP:0031089 (Palatal edema)\n", + " \n", + " \n", + " Complete duplication of the distal phalanx of the 3rd finger\n", + " definition of HP:0009965 (Complete duplication of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Complete duplication of the distal phalanx of middle finger\n", + " definition of HP:0009965 (Complete duplication of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Complete duplication of the outermost bone of the 3rd finger\n", + " definition of HP:0009965 (Complete duplication of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Decreased iduronate sulfatase level\n", + " definition of HP:0034203 (Decreased iduronate sulfatase level)\n", + " \n", + " \n", + " An decreased level of iduronate-2-sulfatase activity in the blood circulation.\n", + " definition of HP:0034203 (Decreased iduronate sulfatase level)\n", + " \n", + " \n", + " Coronary artery dissection\n", + " definition of HP:0006702 (Coronary artery dissection)\n", + " \n", + " \n", + " Acute occurrence of a dissection (tear within the tunica intima and entry of blood into the tunica media) of a coronary artery.\n", + " definition of HP:0006702 (Coronary artery dissection)\n", + " \n", + " \n", + " Long face\n", + " definition of HP:0000276 (Long face)\n", + " \n", + " \n", + " Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).\n", + " definition of HP:0000276 (Long face)\n", + " \n", + " \n", + " #Elongation of face #Increased height of face #Increased length of face #Increased vertical dimension of face #Long face #Long facies #Vertical elongation of face #Vertical enlargement of face #Vertical excess of face #Vertical Facial Excess #Vertical hyperplasia of face #Vertical overgrowth of face\n", + " definition of HP:0000276 (Long face)\n", + " \n", + " \n", + " Abnormality of premolar\n", + " definition of HP:0011076 (Abnormality of premolar)\n", + " \n", + " \n", + " An abnormality of premolar tooth.\n", + " definition of HP:0011076 (Abnormality of premolar)\n", + " \n", + " \n", + " #Abnormality of bicuspid #Abnormality of premolar\n", + " definition of HP:0011076 (Abnormality of premolar)\n", + " \n", + " \n", + " Pyoderma gangrenosum\n", + " definition of HP:0025452 (Pyoderma gangrenosum)\n", + " \n", + " \n", + " A deep skin ulcer with a well defined border, which is usually violet or blue. The ulcer edge is often undermined (worn and damaged) and the surrounding skin is erythematous and indurated. The ulcer often starts as a small papule or collection of papules, which break down to form small ulcers with a so called cat's paw appearance. These coalesce and the central area then undergoes necrosis to form a single ulcer.\n", + " definition of HP:0025452 (Pyoderma gangrenosum)\n", + " \n", + " \n", + " Beaked nails\n", + " definition of HP:0030817 (Beaked nails)\n", + " \n", + " \n", + " Severe nail curvature, causing the tip of the nail to point downwards with respect to the axis of the finger. Beaked nails are caused by resorption of the distal digit.\n", + " definition of HP:0030817 (Beaked nails)\n", + " \n", + " \n", + " Frontal bossing\n", + " definition of HP:0002007 (Frontal bossing)\n", + " \n", + " \n", + " Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.\n", + " definition of HP:0002007 (Frontal bossing)\n", + " \n", + " \n", + " #Frontal protuberance #Skull bossing\n", + " definition of HP:0002007 (Frontal bossing)\n", + " \n", + " \n", + " Amyloidosis of peripheral nerves\n", + " definition of HP:0100292 (Amyloidosis of peripheral nerves)\n", + " \n", + " \n", + " The presence of amyloid deposition in the nerves of the peripheral nervous system.\n", + " definition of HP:0100292 (Amyloidosis of peripheral nerves)\n", + " \n", + " \n", + " Radial deviation of the hand or of fingers of the hand\n", + " definition of HP:0009485 (Radial deviation of the hand or of fingers of the hand)\n", + " \n", + " \n", + " Colonic varices\n", + " definition of HP:0012550 (Colonic varices)\n", + " \n", + " \n", + " The presence of varices (enlarged and convoluted blood vessels) in the colon.\n", + " definition of HP:0012550 (Colonic varices)\n", + " \n", + " \n", + " Large vessel vasculitis\n", + " definition of HP:0005310 (Large vessel vasculitis)\n", + " \n", + " \n", + " A type of vasculitis (inflammation of blood vessel walls) affecting large arteries such as the aorta and branches of the aorta.\n", + " definition of HP:0005310 (Large vessel vasculitis)\n", + " \n", + " \n", + " Abnormal morphology of myocardial trabeculae\n", + " definition of HP:0030681 (Abnormal morphology of myocardial trabeculae)\n", + " \n", + " \n", + " Any structural anomaly of the muscular columns which project from the inner surface of the right and left ventricles of the heart (cardiac trabeculae, trabeculae carneae).\n", + " definition of HP:0030681 (Abnormal morphology of myocardial trabeculae)\n", + " \n", + " \n", + " Fetal alcohol exposure\n", + " definition of HP:0034984 (Fetal alcohol exposure)\n", + " \n", + " \n", + " A history of exposure during pregnancy of the mother of a fetus or child to ethanol (alcohol).\n", + " definition of HP:0034984 (Fetal alcohol exposure)\n", + " \n", + " \n", + " #Alcohol during pregnancy #Alcohol exposure before birth #Alcohol exposure during gestation #Alcohol exposure during pregnancy #Alcohol exposure in pregnancy #Alcohol use during pregnancy #Antenatal alcohol exposure #Antenatal ETOH exposure #Exposure to alcohol during gestation #Exposure to alcohol in the womb #Exposure to alcohol in utero #Prenatal alcohol exposure #Prenatal ETOH exposure #Prenatal exposure to alcohol #Prenatal exposure to ETOH\n", + " definition of HP:0034984 (Fetal alcohol exposure)\n", + " \n", + " \n", + " Abnormal 3rd finger morphology\n", + " definition of HP:0004150 (Abnormal 3rd finger morphology)\n", + " \n", + " \n", + " An anomaly of the third finger.\n", + " definition of HP:0004150 (Abnormal 3rd finger morphology)\n", + " \n", + " \n", + " #Abnormality of the 3rd finger #Abnormality of the middle finger\n", + " definition of HP:0004150 (Abnormal 3rd finger morphology)\n", + " \n", + " \n", + " Focal impaired awareness sensory seizure with vestibular features\n", + " definition of HP:0032805 (Focal impaired awareness sensory seizure with vestibular features)\n", + " \n", + " \n", + " A focal sensory seizure with vestibular features in which awareness is partially or fully impaired at some point during the seizure.\n", + " definition of HP:0032805 (Focal impaired awareness sensory seizure with vestibular features)\n", + " \n", + " \n", + " Facial neoplasm\n", + " definition of HP:0012289 (Facial neoplasm)\n", + " \n", + " \n", + " A tumor (abnormal growth of tissue) of the face.\n", + " definition of HP:0012289 (Facial neoplasm)\n", + " \n", + " \n", + " #Face tumor #Face tumour\n", + " definition of HP:0012289 (Facial neoplasm)\n", + " \n", + " \n", + " Duodenal polyposis\n", + " definition of HP:0004783 (Duodenal polyposis)\n", + " \n", + " \n", + " Presence of multiple polyps in the duodenum.\n", + " definition of HP:0004783 (Duodenal polyposis)\n", + " \n", + " \n", + " #Multiple duodenal polyps\n", + " definition of HP:0004783 (Duodenal polyposis)\n", + " \n", + " \n", + " Palpable purpura\n", + " definition of HP:0031363 (Palpable purpura)\n", + " \n", + " \n", + " A type of purpura in which the lesions are raised (and can therefore be appreciated upon palpation).\n", + " definition of HP:0031363 (Palpable purpura)\n", + " \n", + " \n", + " Typified by low penetrance\n", + " definition of HP:4000160 (Typified by low penetrance)\n", + " \n", + " \n", + " Description of conditions in which only a low proportion of individuals with a given genotype exhibit the disease regardless of age assuming a full lifespan of 80 years. There is no commonly accepted definition for low penetrance, but we suggest that this term be applied if at least some but less than 20 percent of carriers would manifest the disease with a full lifespan.\n", + " definition of HP:4000160 (Typified by low penetrance)\n", + " \n", + " \n", + " Humeral exostoses\n", + " definition of HP:0003872 (Humeral exostoses)\n", + " \n", + " \n", + " Presence of more than one exostosis originating in one or both humerus bones. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.\n", + " definition of HP:0003872 (Humeral exostoses)\n", + " \n", + " \n", + " Abnormality of circulating catecholamine level\n", + " definition of HP:0012099 (Abnormality of circulating catecholamine level)\n", + " \n", + " \n", + " An abnormal catecholamine concentration in the blood.\n", + " definition of HP:0012099 (Abnormality of circulating catecholamine level)\n", + " \n", + " \n", + " #Catecholamine levels abnormal\n", + " definition of HP:0012099 (Abnormality of circulating catecholamine level)\n", + " \n", + " \n", + " Abnormal fecal pH\n", + " definition of HP:0032488 (Abnormal fecal pH)\n", + " \n", + " \n", + " Any deviation from the normal pH of feces. The pH reflects the acidity or alkalinity of a solution on a logarithmic scale on which 7 is neutral, whereby lower values are more acid and higher values more alkaline.\n", + " definition of HP:0032488 (Abnormal fecal pH)\n", + " \n", + " \n", + " #Abnormal faecal pH\n", + " definition of HP:0032488 (Abnormal fecal pH)\n", + " \n", + " \n", + " Abnormal light-adapted single flash electroretinogram\n", + " definition of HP:0030472 (Abnormal light-adapted single flash electroretinogram)\n", + " \n", + " \n", + " Abnormal liver sonography\n", + " definition of HP:0031140 (Abnormal liver sonography)\n", + " \n", + " \n", + " An abnormal appearance of the liver or any of its components on sonography (ultrasound).\n", + " definition of HP:0031140 (Abnormal liver sonography)\n", + " \n", + " \n", + " Abnormal epidermis stratum granulosum morphology\n", + " definition of HP:0033806 (Abnormal epidermis stratum granulosum morphology)\n", + " \n", + " \n", + " An abnormal structure of the stratum granulosum, which is is a thin layer of cells in the epidermis lying above the stratum spinosum and below the stratum corneum.\n", + " definition of HP:0033806 (Abnormal epidermis stratum granulosum morphology)\n", + " \n", + " \n", + " Agenesis of cerebellar vermis\n", + " definition of HP:0002335 (Agenesis of cerebellar vermis)\n", + " \n", + " \n", + " Congenital absence of the vermis of cerebellum.\n", + " definition of HP:0002335 (Agenesis of cerebellar vermis)\n", + " \n", + " \n", + " #Cerebellar vermis aplasia #Vermian agenesis\n", + " definition of HP:0002335 (Agenesis of cerebellar vermis)\n", + " \n", + " \n", + " Papillary renal cell carcinoma type 2\n", + " definition of HP:0006732 (Papillary renal cell carcinoma type 2)\n", + " \n", + " \n", + " A type of papillary renal cell carcinoma in which the papillae are covered by large eosinophilic cells with pleomorphic nuclei, prominent nucleoli, and nuclear pseudostratification.\n", + " definition of HP:0006732 (Papillary renal cell carcinoma type 2)\n", + " \n", + " \n", + " Abnormal lacrimal gland morphology\n", + " definition of HP:0011482 (Abnormal lacrimal gland morphology)\n", + " \n", + " \n", + " Abnormality of the lacrimal gland, i.e., of the almond-shaped gland that secretes the aqueous layer of the tear film for each eye.\n", + " definition of HP:0011482 (Abnormal lacrimal gland morphology)\n", + " \n", + " \n", + " #Abnormality of the lacrimal gland\n", + " definition of HP:0011482 (Abnormal lacrimal gland morphology)\n", + " \n", + " \n", + " Metatarsal synostosis\n", + " definition of HP:0001440 (Metatarsal synostosis)\n", + " \n", + " \n", + " #Fusion of metatarsals #Fusion of the long bones of the feet #Synostosis involving metatarsal bones\n", + " definition of HP:0001440 (Metatarsal synostosis)\n", + " \n", + " \n", + " Absent epiphysis of the proximal phalanx of the 3rd finger\n", + " definition of HP:0009346 (Absent epiphysis of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Absence of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger.\n", + " definition of HP:0009346 (Absent epiphysis of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Absent end part of innermost long bone of the middle finger\n", + " definition of HP:0009346 (Absent epiphysis of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Bloodstream pathogen-specific antibody positivity\n", + " definition of HP:0430051 (Bloodstream pathogen-specific antibody positivity)\n", + " \n", + " \n", + " Positive serology for a exposure to an infectious agent (i.e., examining serum for the presence of pathogen-specific antibodies).\n", + " definition of HP:0430051 (Bloodstream pathogen-specific antibody positivity)\n", + " \n", + " \n", + " Hypoplastic superior helix\n", + " definition of HP:0008559 (Hypoplastic superior helix)\n", + " \n", + " \n", + " #Underdeveloped superior helices\n", + " definition of HP:0008559 (Hypoplastic superior helix)\n", + " \n", + " \n", + " Urethral atresia\n", + " definition of HP:0000068 (Urethral atresia)\n", + " \n", + " \n", + " Congenital anomaly characterized by closure or failure to develop an opening in the urethra.\n", + " definition of HP:0000068 (Urethral atresia)\n", + " \n", + " \n", + " #Absent urethral opening #Urethral opening absent\n", + " definition of HP:0000068 (Urethral atresia)\n", + " \n", + " \n", + " Achlorhydria\n", + " definition of HP:0032448 (Achlorhydria)\n", + " \n", + " \n", + " A condition in which production of hydrochloric acid in the stomach is absent.\n", + " definition of HP:0032448 (Achlorhydria)\n", + " \n", + " \n", + " Abnormal circulating interleukin 27 concentration\n", + " definition of HP:0034173 (Abnormal circulating interleukin 27 concentration)\n", + " \n", + " \n", + " Any deviation from the normal range of the concentration of interleukin 27 in the blood circulation.\n", + " definition of HP:0034173 (Abnormal circulating interleukin 27 concentration)\n", + " \n", + " \n", + " Ulnar metaphyseal irregularity\n", + " definition of HP:0004042 (Ulnar metaphyseal irregularity)\n", + " \n", + " \n", + " Irregularity of the normally smooth surface of the metaphysis of the ulna.\n", + " definition of HP:0004042 (Ulnar metaphyseal irregularity)\n", + " \n", + " \n", + " #Irregular ulnar metaphysis\n", + " definition of HP:0004042 (Ulnar metaphyseal irregularity)\n", + " \n", + " \n", + " Exposure to inhaled lipids\n", + " definition of HP:6000005 (Exposure to inhaled lipids)\n", + " \n", + " \n", + " Aspiration or inhalation of lipid-containing products.\n", + " definition of HP:6000005 (Exposure to inhaled lipids)\n", + " \n", + " \n", + " Dyspnea\n", + " definition of HP:0002094 (Dyspnea)\n", + " \n", + " \n", + " Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.\n", + " definition of HP:0002094 (Dyspnea)\n", + " \n", + " \n", + " #Abnormal breathing #Breathing difficulty #Difficult to breathe #Difficulty breathing #Dyspnoea #Shortness of breath #Trouble breathing\n", + " definition of HP:0002094 (Dyspnea)\n", + " \n", + " \n", + " Anti Parvovirus antibody positivity\n", + " definition of HP:6000584 (Anti Parvovirus antibody positivity)\n", + " \n", + " \n", + " The presence of antibodies in the blood circulation that react against a component of parvovirus.\n", + " definition of HP:6000584 (Anti Parvovirus antibody positivity)\n", + " \n", + " \n", + " Decreased level of platelet-activating factor\n", + " definition of HP:0040179 (Decreased level of platelet-activating factor)\n", + " \n", + " \n", + " #Decreased level of PAF\n", + " definition of HP:0040179 (Decreased level of platelet-activating factor)\n", + " \n", + " \n", + " Hypernatremic dehydration\n", + " definition of HP:0004906 (Hypernatremic dehydration)\n", + " \n", + " \n", + " Cor pulmonale\n", + " definition of HP:0001648 (Cor pulmonale)\n", + " \n", + " \n", + " Right-sided heart failure resulting from chronic hypertension in the pulmonary arteries and right ventricle.\n", + " definition of HP:0001648 (Cor pulmonale)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the retina\n", + " definition of HP:0008061 (Aplasia/Hypoplasia of the retina)\n", + " \n", + " \n", + " #Absent/small retina #Absent/underdeveloped retina\n", + " definition of HP:0008061 (Aplasia/Hypoplasia of the retina)\n", + " \n", + " \n", + " Unaided visual acuity 1.1 LogMAR\n", + " definition of HP:0030546 (Unaided visual acuity 1.1 LogMAR)\n", + " \n", + " \n", + " Silica dust exposure\n", + " definition of HP:6000192 (Silica dust exposure)\n", + " \n", + " \n", + " History of exposure to respirable crystalline silica (SiO2).\n", + " definition of HP:6000192 (Silica dust exposure)\n", + " \n", + " \n", + " Abnormal circulating renin concentration\n", + " definition of HP:0040084 (Abnormal circulating renin concentration)\n", + " \n", + " \n", + " A deviation from the normal concentration of renin in the blood, a central hormone in the control of blood pressure and various other physiological functions.\n", + " definition of HP:0040084 (Abnormal circulating renin concentration)\n", + " \n", + " \n", + " #Abnormal circulating renin #Abnormal plasma renin\n", + " definition of HP:0040084 (Abnormal circulating renin concentration)\n", + " \n", + " \n", + " Abnormal sleep architecture\n", + " definition of HP:5200298 (Abnormal sleep architecture)\n", + " \n", + " \n", + " Interruptions during the various stages of sleep.\n", + " definition of HP:5200298 (Abnormal sleep architecture)\n", + " \n", + " \n", + " #Sleep architecture disturbances #Sleep stage disturbances\n", + " definition of HP:5200298 (Abnormal sleep architecture)\n", + " \n", + " \n", + " Enlarged radial head\n", + " definition of HP:6000885 (Enlarged radial head)\n", + " \n", + " \n", + " Size (volume) of the head of the radius above the upper limit of normal.\n", + " definition of HP:6000885 (Enlarged radial head)\n", + " \n", + " \n", + " Eclampsia\n", + " definition of HP:0100601 (Eclampsia)\n", + " \n", + " \n", + " An acute and life-threatening complication of pregnancy, which is characterized by the appearance of tonic-clonic seizures, usually in a patient who had developed pre-eclampsia. Eclampsia includes seizures and coma that happen during pregnancy but are not due to preexisting or organic brain disorders.\n", + " definition of HP:0100601 (Eclampsia)\n", + " \n", + " \n", + " Megaloblastic anemia\n", + " definition of HP:0001889 (Megaloblastic anemia)\n", + " \n", + " \n", + " Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts).\n", + " definition of HP:0001889 (Megaloblastic anemia)\n", + " \n", + " \n", + " #Megaloblastic anaemia\n", + " definition of HP:0001889 (Megaloblastic anemia)\n", + " \n", + " \n", + " Prenatal double bubble sign\n", + " definition of HP:0025656 (Prenatal double bubble sign)\n", + " \n", + " \n", + " Sonographic detection of a double bubble sign in the upper abdomen is strongly indicative of duodenal obstruction. One bubble represents fetal stomach, and the other is attributed to a dilated proximal part of the duodenum; continuity between both bubbles is required for the sign.\n", + " definition of HP:0025656 (Prenatal double bubble sign)\n", + " \n", + " \n", + " Bone marrow maturation arrest\n", + " definition of HP:0033606 (Bone marrow maturation arrest)\n", + " \n", + " \n", + " Interruption of the procecss of diffferentiation of hematopoietic cells in the bone marrow, manifested by an increased proportion of immature cells in the bone marrow.\n", + " definition of HP:0033606 (Bone marrow maturation arrest)\n", + " \n", + " \n", + " #Haematopoietic maturation arrest #Hematopoietic maturation arrest\n", + " definition of HP:0033606 (Bone marrow maturation arrest)\n", + " \n", + " \n", + " Otitis externa\n", + " definition of HP:0410017 (Otitis externa)\n", + " \n", + " \n", + " Inflammation or infection of the external auditory canal (EAC), the auricle, or both.\n", + " definition of HP:0410017 (Otitis externa)\n", + " \n", + " \n", + " #Swimmer's ear\n", + " definition of HP:0410017 (Otitis externa)\n", + " \n", + " \n", + " Flattened femoral epiphysis\n", + " definition of HP:0030289 (Flattened femoral epiphysis)\n", + " \n", + " \n", + " An abnormal flattening of an epiphysis of femur.\n", + " definition of HP:0030289 (Flattened femoral epiphysis)\n", + " \n", + " \n", + " #Flattended end part of thigh bone\n", + " definition of HP:0030289 (Flattened femoral epiphysis)\n", + " \n", + " \n", + " Complete congenital stationary night blindness\n", + " definition of HP:0030640 (Complete congenital stationary night blindness)\n", + " \n", + " \n", + " Absent pigmentation of the ventral chest\n", + " definition of HP:0007542 (Absent pigmentation of the ventral chest)\n", + " \n", + " \n", + " Lack of skin pigmentation (coloring) of the anterior chest.\n", + " definition of HP:0007542 (Absent pigmentation of the ventral chest)\n", + " \n", + " \n", + " Intralobar nephroblastomatosis\n", + " definition of HP:0011795 (Intralobar nephroblastomatosis)\n", + " \n", + " \n", + " Presence of persistent islands of renal blastema in the postnatal kidney, anywhere within a renal lobe (a portion of a kidney consisting of a renal pyramid and the renal cortex above it).\n", + " definition of HP:0011795 (Intralobar nephroblastomatosis)\n", + " \n", + " \n", + " Recurrent patellar dislocation\n", + " definition of HP:0005001 (Recurrent patellar dislocation)\n", + " \n", + " \n", + " Patellar dislocation occurring repeated times.\n", + " definition of HP:0005001 (Recurrent patellar dislocation)\n", + " \n", + " \n", + " #Recurrent dislocation of patellas\n", + " definition of HP:0005001 (Recurrent patellar dislocation)\n", + " \n", + " \n", + " Bladder neoplasm\n", + " definition of HP:0009725 (Bladder neoplasm)\n", + " \n", + " \n", + " The presence of a neoplasm of the urinary bladder.\n", + " definition of HP:0009725 (Bladder neoplasm)\n", + " \n", + " \n", + " #Bladder cancer\n", + " definition of HP:0009725 (Bladder neoplasm)\n", + " \n", + " \n", + " Bronchial cartilage hypoplasia\n", + " definition of HP:0006539 (Bronchial cartilage hypoplasia)\n", + " \n", + " \n", + " #Underdevelopment of the bronical cartilage\n", + " definition of HP:0006539 (Bronchial cartilage hypoplasia)\n", + " \n", + " \n", + " CSF infectious agent\n", + " definition of HP:0034747 (CSF infectious agent)\n", + " \n", + " \n", + " The presence of an infectious agent in the cerebrospinal fluid (CSF).\n", + " definition of HP:0034747 (CSF infectious agent)\n", + " \n", + " \n", + " Hypernatremia\n", + " definition of HP:0003228 (Hypernatremia)\n", + " \n", + " \n", + " An abnormally increased sodium concentration in the blood.\n", + " definition of HP:0003228 (Hypernatremia)\n", + " \n", + " \n", + " #High blood sodium levels\n", + " definition of HP:0003228 (Hypernatremia)\n", + " \n", + " \n", + " Irregular humeral epiphyses\n", + " definition of HP:0003896 (Irregular humeral epiphyses)\n", + " \n", + " \n", + " #Irregular end part of long bone in upper arm\n", + " definition of HP:0003896 (Irregular humeral epiphyses)\n", + " \n", + " \n", + " Anti-centromere antibody positivity\n", + " definition of HP:0030873 (Anti-centromere antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against the centromeres or centromere components.\n", + " definition of HP:0030873 (Anti-centromere antibody positivity)\n", + " \n", + " \n", + " #ACA positivity #Anticentromere antibody positivity\n", + " definition of HP:0030873 (Anti-centromere antibody positivity)\n", + " \n", + " \n", + " Abnormal RV/TLC ratio\n", + " definition of HP:0033772 (Abnormal RV/TLC ratio)\n", + " \n", + " \n", + " Any deviation from the normal ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining aftermaximal expiration and TLC is the total amount of air in theungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and body plethysmography.\n", + " definition of HP:0033772 (Abnormal RV/TLC ratio)\n", + " \n", + " \n", + " Increased anterioposterior diameter of thorax\n", + " definition of HP:0005253 (Increased anterioposterior diameter of thorax)\n", + " \n", + " \n", + " #Increased anterioposterior diameter of chest\n", + " definition of HP:0005253 (Increased anterioposterior diameter of thorax)\n", + " \n", + " \n", + " Non-restrictive ventricular septal defect\n", + " definition of HP:0011684 (Non-restrictive ventricular septal defect)\n", + " \n", + " \n", + " Any ventricular septal defect (VSD) that does not restrict flow across it sufficiently to generate a pressure gradient between the two sides of the VSD.\n", + " definition of HP:0011684 (Non-restrictive ventricular septal defect)\n", + " \n", + " \n", + " Subaortic ventricular septal bulge\n", + " definition of HP:0031971 (Subaortic ventricular septal bulge)\n", + " \n", + " \n", + " A localized hypertrophy of the subaortic segment of the ventricular septum has been frequently described in elderly persons, and variously termed subaortic ventricular septal bulge (VSB), sigmoid-shaped septum, localized or discrete upper septal hypertrophy.\n", + " definition of HP:0031971 (Subaortic ventricular septal bulge)\n", + " \n", + " \n", + " Ivory epiphysis of the distal phalanx of the 5th toe\n", + " definition of HP:0100208 (Ivory epiphysis of the distal phalanx of the 5th toe)\n", + " \n", + " \n", + " #Increased bone density of end part of the outermost bone of the little toe #Increased bone density of end part of the outermost bone of the pinkie toe #Increased bone density of end part of the outermost bone of the pinky toe\n", + " definition of HP:0100208 (Ivory epiphysis of the distal phalanx of the 5th toe)\n", + " \n", + " \n", + " Homoargininuria\n", + " definition of HP:0034466 (Homoargininuria)\n", + " \n", + " \n", + " An increased amount of homoarginine in the urine. Homoarginine is a nonproteinogenic alpha amino acid.\n", + " definition of HP:0034466 (Homoargininuria)\n", + " \n", + " \n", + " #Homoarginine high in urine\n", + " definition of HP:0034466 (Homoargininuria)\n", + " \n", + " \n", + " Maternal diabetes\n", + " definition of HP:0009800 (Maternal diabetes)\n", + " \n", + " \n", + " Maternal diabetes can either be a gestational, mostly type 2 diabetes, or a type 1 diabetes. Essential is the resulting maternal hyperglycemia as a non-specific teratogen, imposing the same risk of congenital malformations to pregnant women with both type 1 and type2 diabetes.\n", + " definition of HP:0009800 (Maternal diabetes)\n", + " \n", + " \n", + " #gestational diabetes #Maternal diabetes\n", + " definition of HP:0009800 (Maternal diabetes)\n", + " \n", + " \n", + " Precocious costochondral ossification\n", + " definition of HP:0006607 (Precocious costochondral ossification)\n", + " \n", + " \n", + " Early ossification of the costochondral junction, which is the joint between the ribs and costal cartilage in the front of the rib cage.\n", + " definition of HP:0006607 (Precocious costochondral ossification)\n", + " \n", + " \n", + " Muscle fiber intracytoplasmic reducing inclusion bodies\n", + " definition of HP:0034320 (Muscle fiber intracytoplasmic reducing inclusion bodies)\n", + " \n", + " \n", + " Intracytoplasmic inclusions in myofibers that reduce nitro-blue tetrazolium (NBT) and thus stain strongly with the menadione-NBT stain.\n", + " definition of HP:0034320 (Muscle fiber intracytoplasmic reducing inclusion bodies)\n", + " \n", + " \n", + " #Intracytoplasmic myofiber reducing inclusion bodies\n", + " definition of HP:0034320 (Muscle fiber intracytoplasmic reducing inclusion bodies)\n", + " \n", + " \n", + " Enlarged tectum\n", + " definition of HP:0034405 (Enlarged tectum)\n", + " \n", + " \n", + " Increasaed size of the tectum, which is the region of the midbrain posterior to the cerebral aqueduct of Sylvius. The midbrain is the most superior portion of the brainstem.\n", + " definition of HP:0034405 (Enlarged tectum)\n", + " \n", + " \n", + " #Thick tectum\n", + " definition of HP:0034405 (Enlarged tectum)\n", + " \n", + " \n", + " Multiple intestinal neurofibromatosis\n", + " definition of HP:0005220 (Multiple intestinal neurofibromatosis)\n", + " \n", + " \n", + " Chin with horizontal crease\n", + " definition of HP:0011823 (Chin with horizontal crease)\n", + " \n", + " \n", + " Horizontal crease or fold situated below the vermilion border of the lower lip and above the fatty pad of the chin, with the face at rest.\n", + " definition of HP:0011823 (Chin with horizontal crease)\n", + " \n", + " \n", + " #Chin with horizontal crease #Chin with horizontal furrow #Chin with horizontal groove #Chin with horizontal sulcus #Horizontal chin skin cleft #Horizontal menton crease\n", + " definition of HP:0011823 (Chin with horizontal crease)\n", + " \n", + " \n", + " Substantia nigra dopaminergic neuron loss\n", + " definition of HP:0034694 (Substantia nigra dopaminergic neuron loss)\n", + " \n", + " \n", + " Degeneration and loss of neurons in the substantia nigra of the brain.\n", + " definition of HP:0034694 (Substantia nigra dopaminergic neuron loss)\n", + " \n", + " \n", + " Adrenal calcification\n", + " definition of HP:0010512 (Adrenal calcification)\n", + " \n", + " \n", + " Calcification within the adrenal glands.\n", + " definition of HP:0010512 (Adrenal calcification)\n", + " \n", + " \n", + " Sudden unexpected death in epilepsy\n", + " definition of HP:0033258 (Sudden unexpected death in epilepsy)\n", + " \n", + " \n", + " Sudden unexpected death in epilepsy (SUDEP) is a sudden, unexpected, witnessed or unwitnessed, non-traumatic and non-drowning death, occurring in benign circumstances, in an individual with epilepsy, with or without evidence for a seizure and excluding documented status epilepticus, in which postmortem examination has not revealed a cause of death.\n", + " definition of HP:0033258 (Sudden unexpected death in epilepsy)\n", + " \n", + " \n", + " #SUDEP\n", + " definition of HP:0033258 (Sudden unexpected death in epilepsy)\n", + " \n", + " \n", + " Abnormal thoracic spine morphology\n", + " definition of HP:0100711 (Abnormal thoracic spine morphology)\n", + " \n", + " \n", + " An abnormality of the thoracic vertebral column.\n", + " definition of HP:0100711 (Abnormal thoracic spine morphology)\n", + " \n", + " \n", + " #Abnormality of the thoracic spine\n", + " definition of HP:0100711 (Abnormal thoracic spine morphology)\n", + " \n", + " \n", + " Advanced tarsal ossification\n", + " definition of HP:0008108 (Advanced tarsal ossification)\n", + " \n", + " \n", + " Precocious (accelerated) maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.\n", + " definition of HP:0008108 (Advanced tarsal ossification)\n", + " \n", + " \n", + " #Precociously ossified tarsal bones\n", + " definition of HP:0008108 (Advanced tarsal ossification)\n", + " \n", + " \n", + " Abnormality of the middle phalanx of the 3rd toe\n", + " definition of HP:0010369 (Abnormality of the middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Abnormality of the middle bone of 3rd toe\n", + " definition of HP:0010369 (Abnormality of the middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " Elevated urine 2-methylcitric acid level\n", + " definition of HP:0034662 (Elevated urine 2-methylcitric acid level)\n", + " \n", + " \n", + " Amount of 2-methylcitric acid in the urine above the upper limit of normal.\n", + " definition of HP:0034662 (Elevated urine 2-methylcitric acid level)\n", + " \n", + " \n", + " #2-methylcitric acid high in urine #Elevated urine 2-methylcitrate level\n", + " definition of HP:0034662 (Elevated urine 2-methylcitric acid level)\n", + " \n", + " \n", + " Increased CSF D-threitol concentration\n", + " definition of HP:0410058 (Increased CSF D-threitol concentration)\n", + " \n", + " \n", + " The concentration of D-threitol in the cerebrospinal fluid is above the upper limit of normal.\n", + " definition of HP:0410058 (Increased CSF D-threitol concentration)\n", + " \n", + " \n", + " #Increased level of D-threitol in cerebrospinal fluid #Increased level of D-threitol in CSF\n", + " definition of HP:0410058 (Increased CSF D-threitol concentration)\n", + " \n", + " \n", + " Reduced plasminogen activator inhibitor 1 activity\n", + " definition of HP:0040248 (Reduced plasminogen activator inhibitor 1 activity)\n", + " \n", + " \n", + " Reduced activity of plasminogen activator inhibitor 1. This protein down-regulates fibrinolysis in the circulation by inhibiting the two major plasminogen activators: tissue-plasminogen activator and urokinase-plasminogen activator.\n", + " definition of HP:0040248 (Reduced plasminogen activator inhibitor 1 activity)\n", + " \n", + " \n", + " Osteolytic defects of the proximal phalanx of the 3rd finger\n", + " definition of HP:0009453 (Osteolytic defects of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Dissolution or degeneration of bone tissue of the proximal phalanx of the 3rd finger.\n", + " definition of HP:0009453 (Osteolytic defects of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Large capitate bone\n", + " definition of HP:0004263 (Large capitate bone)\n", + " \n", + " \n", + " Abnormal interlobular vein morphology\n", + " definition of HP:0033854 (Abnormal interlobular vein morphology)\n", + " \n", + " \n", + " Any structural anomaly of the interlobular veins of the kidney. An interlobular vein is surrounded by the renal cortex and located between renal lobules (consisting of the nephrons surrounding a single medullary ray and draining into a single collecting duct).\n", + " definition of HP:0033854 (Abnormal interlobular vein morphology)\n", + " \n", + " \n", + " Reduced cooperative play\n", + " definition of HP:4000082 (Reduced cooperative play)\n", + " \n", + " \n", + " Impairment in a child's ability to be able to play in a way that involves peer collaboration. Collaborative play involves things such as verbal and non-verbal communication (e.g., self-initiated interactions), turn-taking, sharing, reciprocity, and collaborative problem-solving. It is often contrasted to parallel play, which involves a form of social play in which two children do similar activities near each other and often mimic each other. Typically developing children develop collaborative play between the ages of 4 and 5.\n", + " definition of HP:4000082 (Reduced cooperative play)\n", + " \n", + " \n", + " #Reduced collaborative play\n", + " definition of HP:4000082 (Reduced cooperative play)\n", + " \n", + " \n", + " Very low visual acuity\n", + " definition of HP:0032122 (Very low visual acuity)\n", + " \n", + " \n", + " A reduction in visual acuity with best corrected visual acuity between 1.40 (20/500) and 1.89 logMAR (up to roughly 20/1590).\n", + " definition of HP:0032122 (Very low visual acuity)\n", + " \n", + " \n", + " Partial duplication of the distal phalanges of the hand\n", + " definition of HP:0010004 (Partial duplication of the distal phalanges of the hand)\n", + " \n", + " \n", + " A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the distal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.\n", + " definition of HP:0010004 (Partial duplication of the distal phalanges of the hand)\n", + " \n", + " \n", + " #Bifid terminal phalanges of the hand #Partial duplication of the outermost bone of the hand\n", + " definition of HP:0010004 (Partial duplication of the distal phalanges of the hand)\n", + " \n", + " \n", + " Duane anomaly\n", + " definition of HP:0009921 (Duane anomaly)\n", + " \n", + " \n", + " A condition associated with a limitation of the horizontal ocular movement with retraction of the globe and narrowing of the palpebral fissure on adduction\n", + " definition of HP:0009921 (Duane anomaly)\n", + " \n", + " \n", + " #Limited eye motility from Duane anomaly #Limited eye movement from Duane anomaly\n", + " definition of HP:0009921 (Duane anomaly)\n", + " \n", + " \n", + " Increased urinary non-proteinogenic amino acid level\n", + " definition of HP:0033098 (Increased urinary non-proteinogenic amino acid level)\n", + " \n", + " \n", + " An increased level in the urine of an alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids.\n", + " definition of HP:0033098 (Increased urinary non-proteinogenic amino acid level)\n", + " \n", + " \n", + " #Elevated urinary non-proteinogenic amino acid level\n", + " definition of HP:0033098 (Increased urinary non-proteinogenic amino acid level)\n", + " \n", + " \n", + " Cuboid-shaped vertebral bodies\n", + " definition of HP:0004634 (Cuboid-shaped vertebral bodies)\n", + " \n", + " \n", + " #Cuboid vertebral bodies\n", + " definition of HP:0004634 (Cuboid-shaped vertebral bodies)\n", + " \n", + " \n", + " Decreased head circumference\n", + " definition of HP:0040195 (Decreased head circumference)\n", + " \n", + " \n", + " An abnormally reduced head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. Microcephaly is defined as a head circumference (HC) that is great than two standard deviations below the mean of age- and gender-matched population based samples. Severe microcephaly is defined with an HC that is three standard deviations below the mean.\n", + " definition of HP:0040195 (Decreased head circumference)\n", + " \n", + " \n", + " #Decreased head circumference\n", + " definition of HP:0040195 (Decreased head circumference)\n", + " \n", + " \n", + " Reduced sperm motility\n", + " definition of HP:0012207 (Reduced sperm motility)\n", + " \n", + " \n", + " An abnormal reduction in the mobility of ejaculated sperm.\n", + " definition of HP:0012207 (Reduced sperm motility)\n", + " \n", + " \n", + " #Asthenospermia #Asthenozoospermia #Reduced sperm motility\n", + " definition of HP:0012207 (Reduced sperm motility)\n", + " \n", + " \n", + " Anterior cortical cataract\n", + " definition of HP:0007795 (Anterior cortical cataract)\n", + " \n", + " \n", + " A cataract that affects the anterior part of the cortex of the lens.\n", + " definition of HP:0007795 (Anterior cortical cataract)\n", + " \n", + " \n", + " Irregular epiphysis of the distal phalanx of the 2nd finger\n", + " definition of HP:0009507 (Irregular epiphysis of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Irregular radiographic opacity of the epiphysis of the distal phalanx of the 2nd finger.\n", + " definition of HP:0009507 (Irregular epiphysis of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Irregular end part of the outermost bone of the index finger\n", + " definition of HP:0009507 (Irregular epiphysis of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Renal interstitial granulomas\n", + " definition of HP:0032641 (Renal interstitial granulomas)\n", + " \n", + " \n", + " Interstital aggregates of histiciocytes, occasionally multinucleated with associated lymphoplasmacytic and occasionally eosinophilic inflammation. Organization can range from poorly-to-well defined and multinucleated giant cells may be present.\n", + " definition of HP:0032641 (Renal interstitial granulomas)\n", + " \n", + " \n", + " #Renal interstitial granulomata\n", + " definition of HP:0032641 (Renal interstitial granulomas)\n", + " \n", + " \n", + " Abnormality of the ear\n", + " definition of HP:0000598 (Abnormality of the ear)\n", + " \n", + " \n", + " An abnormality of the ear.\n", + " definition of HP:0000598 (Abnormality of the ear)\n", + " \n", + " \n", + " #Abnormality of the ear #Ear anomaly\n", + " definition of HP:0000598 (Abnormality of the ear)\n", + " \n", + " \n", + " Irregular epiphysis of the distal phalanx of the hallux\n", + " definition of HP:0010143 (Irregular epiphysis of the distal phalanx of the hallux)\n", + " \n", + " \n", + " #Irregular end part of the outermost bone of the big toe\n", + " definition of HP:0010143 (Irregular epiphysis of the distal phalanx of the hallux)\n", + " \n", + " \n", + " Infantile sensorineural hearing impairment\n", + " definition of HP:0008610 (Infantile sensorineural hearing impairment)\n", + " \n", + " \n", + " A form of sensorineural hearing impairment with infantile onset.\n", + " definition of HP:0008610 (Infantile sensorineural hearing impairment)\n", + " \n", + " \n", + " #Infantile sensorineural hearing loss\n", + " definition of HP:0008610 (Infantile sensorineural hearing impairment)\n", + " \n", + " \n", + " Thought blocking\n", + " definition of HP:5200227 (Thought blocking)\n", + " \n", + " \n", + " The experience of sudden cessation of the thought/thinking process, the person often describes the mind going blank and there is frequently a period of silence that is accompanied by a perplexed state, not understanding what transpired. Some may describe the experience as an abrupt emptying of the mind or the belief that an external force removed their thoughts from their head.\n", + " definition of HP:5200227 (Thought blocking)\n", + " \n", + " \n", + " #Thought withdrawal #Thought-blocking\n", + " definition of HP:5200227 (Thought blocking)\n", + " \n", + " \n", + " Acanthocytosis\n", + " definition of HP:0001927 (Acanthocytosis)\n", + " \n", + " \n", + " Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars.\n", + " definition of HP:0001927 (Acanthocytosis)\n", + " \n", + " \n", + " #Acanthocytes #Red cell acanthocytosis\n", + " definition of HP:0001927 (Acanthocytosis)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the cerebral white matter\n", + " definition of HP:0012429 (Aplasia/Hypoplasia of the cerebral white matter)\n", + " \n", + " \n", + " Absence or underdevelopment of the cerebral white matter.\n", + " definition of HP:0012429 (Aplasia/Hypoplasia of the cerebral white matter)\n", + " \n", + " \n", + " #Absent/small cerebral white matter #Absent/underdeveloped cerebral white matter\n", + " definition of HP:0012429 (Aplasia/Hypoplasia of the cerebral white matter)\n", + " \n", + " \n", + " Infra-orbital fold\n", + " definition of HP:0011232 (Infra-orbital fold)\n", + " \n", + " \n", + " Elevated ridge(s) of skin starting well below the medial aspect of the lower lid that curves gradually upward toward and/or across the nasal bridge.\n", + " definition of HP:0011232 (Infra-orbital fold)\n", + " \n", + " \n", + " #Infraorbital fold\n", + " definition of HP:0011232 (Infra-orbital fold)\n", + " \n", + " \n", + " Ureterocele\n", + " definition of HP:0000070 (Ureterocele)\n", + " \n", + " \n", + " A ureterocele is a congenital saccular dilatation of the distal segment of the ureter.\n", + " definition of HP:0000070 (Ureterocele)\n", + " \n", + " \n", + " Sclerosis of the distal phalanx of the 5th finger\n", + " definition of HP:0100903 (Sclerosis of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " #Increased bone density in the outermost little finger bone #Increased bone density in the outermost pinkie finger bone #Increased bone density in the outermost pinky finger bone\n", + " definition of HP:0100903 (Sclerosis of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " Echolalia\n", + " definition of HP:0010529 (Echolalia)\n", + " \n", + " \n", + " Echolalia is the automatic imitative repetition of sounds, words, or phrases in the absence of explicit awareness. The repeated words or phrases are typically odd or used in a non-social manner. These can be words or phrases that the affected individual has heard or invented.\n", + " definition of HP:0010529 (Echolalia)\n", + " \n", + " \n", + " #Echoing another person's speech #Echologia #Echophrasia #Repeated speech\n", + " definition of HP:0010529 (Echolalia)\n", + " \n", + " \n", + " Aplasia of the phalanges of the 2nd toe\n", + " definition of HP:0010430 (Aplasia of the phalanges of the 2nd toe)\n", + " \n", + " \n", + " #Absent 2nd toe bones\n", + " definition of HP:0010430 (Aplasia of the phalanges of the 2nd toe)\n", + " \n", + " \n", + " Monoclonal elevation of IgG kappa chain\n", + " definition of HP:0032294 (Monoclonal elevation of IgG kappa chain)\n", + " \n", + " \n", + " A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a kappa light chain but not a heavy chain.\n", + " definition of HP:0032294 (Monoclonal elevation of IgG kappa chain)\n", + " \n", + " \n", + " Autonomic status epilepticus\n", + " definition of HP:0032672 (Autonomic status epilepticus)\n", + " \n", + " \n", + " Autonomic status epilepticus is a type of non-convulsive status epilepticus without coma with prominent autonomic features regardless of whether it is electrographically generalized or focal.\n", + " definition of HP:0032672 (Autonomic status epilepticus)\n", + " \n", + " \n", + " Fragmentation of the epiphysis of the proximal phalanx of the 4th toe\n", + " definition of HP:0100195 (Fragmentation of the epiphysis of the proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " #Fragmentation of the end part of the innermost bone of the 4th toe\n", + " definition of HP:0100195 (Fragmentation of the epiphysis of the proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " Tonic pupil\n", + " definition of HP:0012074 (Tonic pupil)\n", + " \n", + " \n", + " An abnormality of the pupillary light reaction characterized by a marked slowing of the light reaction of usually just one pupil. The pupil tends to be relatively dilated, and there is reduced accommodation.\n", + " definition of HP:0012074 (Tonic pupil)\n", + " \n", + " \n", + " #Adie pupil #Adie's tonic pupil\n", + " definition of HP:0012074 (Tonic pupil)\n", + " \n", + " \n", + " Flat nasal alae\n", + " definition of HP:0010649 (Flat nasal alae)\n", + " \n", + " \n", + " An abnormal degree of flatness of the Ala of nose, which can be defined as a reduced nasal elevation index (lateral depth of the nose from the tip of the nose to the insertion of the nasal ala in the cheek x 100 divided by the side-to-side breadth of the nasal alae).\n", + " definition of HP:0010649 (Flat nasal alae)\n", + " \n", + " \n", + " #Depressed nasal alae\n", + " definition of HP:0010649 (Flat nasal alae)\n", + " \n", + " \n", + " Recurrent pharyngitis\n", + " definition of HP:0100776 (Recurrent pharyngitis)\n", + " \n", + " \n", + " An increased susceptibility to pharyngitis as manifested by a history of recurrent pharyngitis.\n", + " definition of HP:0100776 (Recurrent pharyngitis)\n", + " \n", + " \n", + " #Pharyngitis, recurrent #Recurrent sore throat\n", + " definition of HP:0100776 (Recurrent pharyngitis)\n", + " \n", + " \n", + " Triggered by smoking\n", + " definition of HP:0025223 (Triggered by smoking)\n", + " \n", + " \n", + " Applies to a sign or symptom that is provoked or brought about by smoking.\n", + " definition of HP:0025223 (Triggered by smoking)\n", + " \n", + " \n", + " #Smoking triggered symptoms #Triggered by cigarette consumption #Triggered by smoking #Triggered by tobacco use\n", + " definition of HP:0025223 (Triggered by smoking)\n", + " \n", + " \n", + " Eruption failure\n", + " definition of HP:0000706 (Eruption failure)\n", + " \n", + " \n", + " A tooth which does not erupt within the teeth eruption timeline and after the loss of eruption potential.\n", + " definition of HP:0000706 (Eruption failure)\n", + " \n", + " \n", + " #Failure of eruption of tooth #Pseudo-anodontia #Pseudoanodontia #Unerupted tooth\n", + " definition of HP:0000706 (Eruption failure)\n", + " \n", + " \n", + " Increased fecal pentacarboxylporphyrin\n", + " definition of HP:0034474 (Increased fecal pentacarboxylporphyrin)\n", + " \n", + " \n", + " Abnormally high concentration of pentacarboxylporphyrin in feces.\n", + " definition of HP:0034474 (Increased fecal pentacarboxylporphyrin)\n", + " \n", + " \n", + " #Pentacarboxylporphyrin high in stool\n", + " definition of HP:0034474 (Increased fecal pentacarboxylporphyrin)\n", + " \n", + " \n", + " Abnormal arcuate artery endothelium morphology\n", + " definition of HP:0033901 (Abnormal arcuate artery endothelium morphology)\n", + " \n", + " \n", + " Any structural anomaly of the lining (endothelium) of the arcuate arteries of the kidney.\n", + " definition of HP:0033901 (Abnormal arcuate artery endothelium morphology)\n", + " \n", + " \n", + " Elevated circulating deoxyuridine concentration\n", + " definition of HP:0034277 (Elevated circulating deoxyuridine concentration)\n", + " \n", + " \n", + " Concentration of 2-deoxyuridine in the blood circulation is above the normal range.\n", + " definition of HP:0034277 (Elevated circulating deoxyuridine concentration)\n", + " \n", + " \n", + " Prominent glabella\n", + " definition of HP:0002057 (Prominent glabella)\n", + " \n", + " \n", + " Forward protrusion of the glabella.\n", + " definition of HP:0002057 (Prominent glabella)\n", + " \n", + " \n", + " #Convex glabella #Hyperplasia of glabella #Prominent area between the eyebrows #Protruding area between the eyebrows\n", + " definition of HP:0002057 (Prominent glabella)\n", + " \n", + " \n", + " Sacral lipoma\n", + " definition of HP:0012033 (Sacral lipoma)\n", + " \n", + " \n", + " Presence of a lipoma in the region of the sacrum.\n", + " definition of HP:0012033 (Sacral lipoma)\n", + " \n", + " \n", + " Elevated circulating reverse T3 concentration\n", + " definition of HP:0034288 (Elevated circulating reverse T3 concentration)\n", + " \n", + " \n", + " Abnormally increased concentration of reverse T3 (3,3',5'-triiodothyronine or rT3) in the blood circulation.\n", + " definition of HP:0034288 (Elevated circulating reverse T3 concentration)\n", + " \n", + " \n", + " #Elevated circulating reverse triiodothyronine concentration #Elevated rT3\n", + " definition of HP:0034288 (Elevated circulating reverse T3 concentration)\n", + " \n", + " \n", + " Abnormal muscle tone\n", + " definition of HP:0003808 (Abnormal muscle tone)\n", + " \n", + " \n", + " #Abnormal muscle tone\n", + " definition of HP:0003808 (Abnormal muscle tone)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the 1st metacarpal\n", + " definition of HP:0010026 (Aplasia/Hypoplasia of the 1st metacarpal)\n", + " \n", + " \n", + " Aplasia or Hypoplasia affecting the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits).\n", + " definition of HP:0010026 (Aplasia/Hypoplasia of the 1st metacarpal)\n", + " \n", + " \n", + " #Absent/small 1st long bone of hand #Absent/underdeveloped 1st long bone of hand\n", + " definition of HP:0010026 (Aplasia/Hypoplasia of the 1st metacarpal)\n", + " \n", + " \n", + " Midgut malrotation\n", + " definition of HP:0005211 (Midgut malrotation)\n", + " \n", + " \n", + " Tertiary hyperparathyroidism\n", + " definition of HP:0011770 (Tertiary hyperparathyroidism)\n", + " \n", + " \n", + " A type of hyperparathyroidism that occurs following kidney transplantation, which is a treatment for secondary hyperparathyroidism. Although kidney transplantation leads to a normalization of serum calcium and parathyroid hormone in most patients. The state of persistent hypercalcemia and hyperparathyroidism is referred to as tertiary hyperparathyroidism.\n", + " definition of HP:0011770 (Tertiary hyperparathyroidism)\n", + " \n", + " \n", + " Urinary bladder granulomatosis\n", + " definition of HP:0034800 (Urinary bladder granulomatosis)\n", + " \n", + " \n", + " The presence of multiple granulomas in the urinary bladder as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes.\n", + " definition of HP:0034800 (Urinary bladder granulomatosis)\n", + " \n", + " \n", + " #Urinary bladder granulomas\n", + " definition of HP:0034800 (Urinary bladder granulomatosis)\n", + " \n", + " \n", + " Myalgia\n", + " definition of HP:0003326 (Myalgia)\n", + " \n", + " \n", + " Pain in muscle.\n", + " definition of HP:0003326 (Myalgia)\n", + " \n", + " \n", + " #Muscle ache #Muscle pain\n", + " definition of HP:0003326 (Myalgia)\n", + " \n", + " \n", + " Decreased CSF phenylalanine concentration\n", + " definition of HP:0500224 (Decreased CSF phenylalanine concentration)\n", + " \n", + " \n", + " Abnormally decreased levels of phenylalanine in cerebrospinal fluid.\n", + " definition of HP:0500224 (Decreased CSF phenylalanine concentration)\n", + " \n", + " \n", + " #Low phenylalanine levels in cerebrospinal fluid\n", + " definition of HP:0500224 (Decreased CSF phenylalanine concentration)\n", + " \n", + " \n", + " Focal aware motor seizure with negative myoclonus\n", + " definition of HP:0032857 (Focal aware motor seizure with negative myoclonus)\n", + " \n", + " \n", + " A focal motor seizure with negative myoclonus characterized by retained awareness throughout the seizure.\n", + " definition of HP:0032857 (Focal aware motor seizure with negative myoclonus)\n", + " \n", + " \n", + " #Focal motor aware seizure with negative myoclonus\n", + " definition of HP:0032857 (Focal aware motor seizure with negative myoclonus)\n", + " \n", + " \n", + " Hyperinsulinemia\n", + " definition of HP:0000842 (Hyperinsulinemia)\n", + " \n", + " \n", + " An increased concentration of insulin in the blood.\n", + " definition of HP:0000842 (Hyperinsulinemia)\n", + " \n", + " \n", + " #Elevated insulin level\n", + " definition of HP:0000842 (Hyperinsulinemia)\n", + " \n", + " \n", + " Parathyroid adenoma\n", + " definition of HP:0002897 (Parathyroid adenoma)\n", + " \n", + " \n", + " A benign tumor of the parathyroid gland that can cause hyperparathyroidism.\n", + " definition of HP:0002897 (Parathyroid adenoma)\n", + " \n", + " \n", + " #Parathyroid adenomas\n", + " definition of HP:0002897 (Parathyroid adenoma)\n", + " \n", + " \n", + " Flexion contracture of the 5th toe\n", + " definition of HP:0010345 (Flexion contracture of the 5th toe)\n", + " \n", + " \n", + " One or more bent (flexed) joints of the fifth toe that cannot be straightened actively or passively.\n", + " definition of HP:0010345 (Flexion contracture of the 5th toe)\n", + " \n", + " \n", + " #Joint contractures of the 5th toe\n", + " definition of HP:0010345 (Flexion contracture of the 5th toe)\n", + " \n", + " \n", + " Abnormal phytanic acid:pristanic acid ratio\n", + " definition of HP:0034448 (Abnormal phytanic acid:pristanic acid ratio)\n", + " \n", + " \n", + " Any deviation from the normal ratio of blood phytanic acid concentration to pristanic acid concentration.\n", + " definition of HP:0034448 (Abnormal phytanic acid:pristanic acid ratio)\n", + " \n", + " \n", + " #Abnormal phytanic acid to pristanic acid ratio #Abnormal phytanic acid/pristanic acid ratio\n", + " definition of HP:0034448 (Abnormal phytanic acid:pristanic acid ratio)\n", + " \n", + " \n", + " Small intestinal perforation\n", + " definition of HP:0031370 (Small intestinal perforation)\n", + " \n", + " \n", + " A hole (perforation) in the wall of the small intestine.\n", + " definition of HP:0031370 (Small intestinal perforation)\n", + " \n", + " \n", + " Decreased monosialylated core 1 O-glycan level\n", + " definition of HP:0410364 (Decreased monosialylated core 1 O-glycan level)\n", + " \n", + " \n", + " An abnormal decrease in the concentration of monosialylated core 1 O-glycans on glycoproteins.\n", + " definition of HP:0410364 (Decreased monosialylated core 1 O-glycan level)\n", + " \n", + " \n", + " #Decreased sialyl T-antigen concentration\n", + " definition of HP:0410364 (Decreased monosialylated core 1 O-glycan level)\n", + " \n", + " \n", + " Hypertension\n", + " definition of HP:0000822 (Hypertension)\n", + " \n", + " \n", + " The presence of chronic increased pressure in the systemic arterial system.\n", + " definition of HP:0000822 (Hypertension)\n", + " \n", + " \n", + " #Arterial hypertension #Systemic hypertension\n", + " definition of HP:0000822 (Hypertension)\n", + " \n", + " \n", + " Opacification of the corneal stroma\n", + " definition of HP:0007759 (Opacification of the corneal stroma)\n", + " \n", + " \n", + " Reduced transparency of the stroma of cornea.\n", + " definition of HP:0007759 (Opacification of the corneal stroma)\n", + " \n", + " \n", + " #Cloudy cornea #Corneal stromal opacity\n", + " definition of HP:0007759 (Opacification of the corneal stroma)\n", + " \n", + " \n", + " Uterine leiomyoma\n", + " definition of HP:0000131 (Uterine leiomyoma)\n", + " \n", + " \n", + " The presence of a leiomyoma of the uterus.\n", + " definition of HP:0000131 (Uterine leiomyoma)\n", + " \n", + " \n", + " #Benign uterine leiomyomas #Uterine fibroid\n", + " definition of HP:0000131 (Uterine leiomyoma)\n", + " \n", + " \n", + " Reduced left ventricular ejection fraction\n", + " definition of HP:0012664 (Reduced left ventricular ejection fraction)\n", + " \n", + " \n", + " A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle.\n", + " definition of HP:0012664 (Reduced left ventricular ejection fraction)\n", + " \n", + " \n", + " #Reduced ejection fraction\n", + " definition of HP:0012664 (Reduced left ventricular ejection fraction)\n", + " \n", + " \n", + " U-Shaped upper lip vermilion\n", + " definition of HP:0010806 (U-Shaped upper lip vermilion)\n", + " \n", + " \n", + " Gentle upward curve of the upper lip vermilion such that the center is placed well superior to the commissures.\n", + " definition of HP:0010806 (U-Shaped upper lip vermilion)\n", + " \n", + " \n", + " #Carp-like mouth #Carp-shaped mouth #Fish mouth #Large, carp-shaped mouth #Wide, carp-shaped mouth\n", + " definition of HP:0010806 (U-Shaped upper lip vermilion)\n", + " \n", + " \n", + " Mixed cirrhosis\n", + " definition of HP:0011005 (Mixed cirrhosis)\n", + " \n", + " \n", + " A type of cirrhosis characterized by the presence of regenerative nodules of a variety of sizes.\n", + " definition of HP:0011005 (Mixed cirrhosis)\n", + " \n", + " \n", + " Abnormal CSF lactate concentration\n", + " definition of HP:0030085 (Abnormal CSF lactate concentration)\n", + " \n", + " \n", + " Abnormal concentration of lactate in the cerebrospinal fluid.\n", + " definition of HP:0030085 (Abnormal CSF lactate concentration)\n", + " \n", + " \n", + " #Abnormal CSF lactate level\n", + " definition of HP:0030085 (Abnormal CSF lactate concentration)\n", + " \n", + " \n", + " Asymmetric abdominal aortic aneurysm\n", + " definition of HP:0031711 (Asymmetric abdominal aortic aneurysm)\n", + " \n", + " \n", + " An abdominal aortic aneurysm that is not symmetric around its axis (not axisymmetric).\n", + " definition of HP:0031711 (Asymmetric abdominal aortic aneurysm)\n", + " \n", + " \n", + " Dumbbell-shaped humerus\n", + " definition of HP:0005009 (Dumbbell-shaped humerus)\n", + " \n", + " \n", + " The humerus is shortened and displays flaring (widening) of the metaphyses.\n", + " definition of HP:0005009 (Dumbbell-shaped humerus)\n", + " \n", + " \n", + " #Dumbbell-shaped long bone in upper arm\n", + " definition of HP:0005009 (Dumbbell-shaped humerus)\n", + " \n", + " \n", + " Dependency on parenteral nutrition\n", + " definition of HP:0033994 (Dependency on parenteral nutrition)\n", + " \n", + " \n", + " Inability to ingest sufficient quantities of nutrition by mouth or by tube-feeding with the corresponding requirement for intravenous administration of nutrition.\n", + " definition of HP:0033994 (Dependency on parenteral nutrition)\n", + " \n", + " \n", + " Mixed total anomalous pulmonary venous connection\n", + " definition of HP:0011722 (Mixed total anomalous pulmonary venous connection)\n", + " \n", + " \n", + " Type 4 total anomalous pulmonary venous connection.\n", + " definition of HP:0011722 (Mixed total anomalous pulmonary venous connection)\n", + " \n", + " \n", + " #Mixed total anomalous pulmonary venous connexion #Total anomalous pulmonary venous connection, mixed #Type 4 total anomalous pulmonary venous connection\n", + " definition of HP:0011722 (Mixed total anomalous pulmonary venous connection)\n", + " \n", + " \n", + " Small finger\n", + " definition of HP:0030033 (Small finger)\n", + " \n", + " \n", + " Significant reduction in both length and girth of the finger compared to the contralateral finger, or alternatively, compared to a typical finger size for an age-matched individual.\n", + " definition of HP:0030033 (Small finger)\n", + " \n", + " \n", + " #Small finger\n", + " definition of HP:0030033 (Small finger)\n", + " \n", + " \n", + " Precocious puberty in females\n", + " definition of HP:0010465 (Precocious puberty in females)\n", + " \n", + " \n", + " The onset of puberty before the age of 8 years in girls.\n", + " definition of HP:0010465 (Precocious puberty in females)\n", + " \n", + " \n", + " Sparse or absent eyelashes\n", + " definition of HP:0200102 (Sparse or absent eyelashes)\n", + " \n", + " \n", + " #Sparse or absent eyelashes\n", + " definition of HP:0200102 (Sparse or absent eyelashes)\n", + " \n", + " \n", + " Focal sexual automatism seizure\n", + " definition of HP:0032905 (Focal sexual automatism seizure)\n", + " \n", + " \n", + " A type of focal automatism seizure characterized by involuntary sexual behavior at onset.\n", + " definition of HP:0032905 (Focal sexual automatism seizure)\n", + " \n", + " \n", + " Lumbar scoliosis\n", + " definition of HP:0004626 (Lumbar scoliosis)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the thyroid gland\n", + " definition of HP:0033079 (Aplasia/Hypoplasia of the thyroid gland)\n", + " \n", + " \n", + " Absence or underdevelopment of the thyroid gland.\n", + " definition of HP:0033079 (Aplasia/Hypoplasia of the thyroid gland)\n", + " \n", + " \n", + " Basic constant exotropia\n", + " definition of HP:0032010 (Basic constant exotropia)\n", + " \n", + " \n", + " Constant exotropia for near and distance, presenting after 6 months of age.\n", + " definition of HP:0032010 (Basic constant exotropia)\n", + " \n", + " \n", + " #Basic (constant) exotropia\n", + " definition of HP:0032010 (Basic constant exotropia)\n", + " \n", + " \n", + " Asymmetric bilateral cleft lip\n", + " definition of HP:5201014 (Asymmetric bilateral cleft lip)\n", + " \n", + " \n", + " Bilateral cleft lip in which the cleft lip on one side is complete (i.e. starts from the bottom of the upper lip and reaches the nasal cavity), and the one on the other side is incomplete (i.e. starts from the bottom of the upper lip but does not reach the nasal cavity) or microform (i.e. a notch, groove, or scar without noticeable rupture of the lip).\n", + " definition of HP:5201014 (Asymmetric bilateral cleft lip)\n", + " \n", + " \n", + " Small distal femoral epiphysis\n", + " definition of HP:0012283 (Small distal femoral epiphysis)\n", + " \n", + " \n", + " Reduced size of the Distal epiphysis of femur.\n", + " definition of HP:0012283 (Small distal femoral epiphysis)\n", + " \n", + " \n", + " #Small end part of outermost thighbone\n", + " definition of HP:0012283 (Small distal femoral epiphysis)\n", + " \n", + " \n", + " Plantar edema\n", + " definition of HP:0025537 (Plantar edema)\n", + " \n", + " \n", + " An abnormal accumulation of fluid beneath the skin on sole of the foot.\n", + " definition of HP:0025537 (Plantar edema)\n", + " \n", + " \n", + " #Plantar oedema\n", + " definition of HP:0025537 (Plantar edema)\n", + " \n", + " \n", + " Ulnar deviation of the 2nd finger\n", + " definition of HP:0009464 (Ulnar deviation of the 2nd finger)\n", + " \n", + " \n", + " Displacement of the 2nd (index) finger towards the ulnar side.\n", + " definition of HP:0009464 (Ulnar deviation of the 2nd finger)\n", + " \n", + " \n", + " #Medially deviated index finger #Second finger ulnar deviation #Ulnar angulation of the index finger #Ulnar deviation of index fingers\n", + " definition of HP:0009464 (Ulnar deviation of the 2nd finger)\n", + " \n", + " \n", + " Pulmonary cyst\n", + " definition of HP:0032445 (Pulmonary cyst)\n", + " \n", + " \n", + " A round circumscribed space within a lung that is surrounded by an epithelial or fibrous wall of variable thickness. A cyst usually has a thin and regular wall (less than 2 mm) and contains air, although some may contain fluid.\n", + " definition of HP:0032445 (Pulmonary cyst)\n", + " \n", + " \n", + " #Lung cyst\n", + " definition of HP:0032445 (Pulmonary cyst)\n", + " \n", + " \n", + " Long clavicles\n", + " definition of HP:0000890 (Long clavicles)\n", + " \n", + " \n", + " Increased length of the clavicles.\n", + " definition of HP:0000890 (Long clavicles)\n", + " \n", + " \n", + " #Elongated clavicles #Long collarbone\n", + " definition of HP:0000890 (Long clavicles)\n", + " \n", + " \n", + " Elevated circulating S-adenosyl-L-methionine concentration\n", + " definition of HP:0034731 (Elevated circulating S-adenosyl-L-methionine concentration)\n", + " \n", + " \n", + " Concentration S-adenosyl-L-methionine in the blood circulation above the upper limit of normal.\n", + " definition of HP:0034731 (Elevated circulating S-adenosyl-L-methionine concentration)\n", + " \n", + " \n", + " #High blood AdoMet\n", + " definition of HP:0034731 (Elevated circulating S-adenosyl-L-methionine concentration)\n", + " \n", + " \n", + " Broad columella\n", + " definition of HP:0010761 (Broad columella)\n", + " \n", + " \n", + " Increased width of the columella.\n", + " definition of HP:0010761 (Broad columella)\n", + " \n", + " \n", + " #Columella, broad #Columella, wide #Fullness of columella #Increased width of columella\n", + " definition of HP:0010761 (Broad columella)\n", + " \n", + " \n", + " Decreased cardiac output\n", + " definition of HP:0033532 (Decreased cardiac output)\n", + " \n", + " \n", + " A decreased volume of blood pumped by the left and right ventricle, per unit time. Cardiac output (CO) is the product of the heart rate (HR), i.e. the number of heartbeats per minute (bpm), and the stroke volume (SV), which is the volume of blood pumped from the ventricle per beat.\n", + " definition of HP:0033532 (Decreased cardiac output)\n", + " \n", + " \n", + " Leukocyte migration defect\n", + " definition of HP:0033797 (Leukocyte migration defect)\n", + " \n", + " \n", + " Any abnormality of leukocyte motility in response to chemokines, which is required for the inflammatory response to infections, and for organ development, tissues homeostasis, and vascularization.\n", + " definition of HP:0033797 (Leukocyte migration defect)\n", + " \n", + " \n", + " #Abnormal leukocyte migration #Defects of leukocyte migration\n", + " definition of HP:0033797 (Leukocyte migration defect)\n", + " \n", + " \n", + " Short fourth metatarsal\n", + " definition of HP:0004689 (Short fourth metatarsal)\n", + " \n", + " \n", + " Short fourth metatarsal bone.\n", + " definition of HP:0004689 (Short fourth metatarsal)\n", + " \n", + " \n", + " #Bilateral fourth metatarsal shortening #Short 4th long bone of foot #Short fourth metatarsus\n", + " definition of HP:0004689 (Short fourth metatarsal)\n", + " \n", + " \n", + " Subvalvular aortic stenosis\n", + " definition of HP:0001682 (Subvalvular aortic stenosis)\n", + " \n", + " \n", + " A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve.\n", + " definition of HP:0001682 (Subvalvular aortic stenosis)\n", + " \n", + " \n", + " #Narrowing of blood vessel below aortic heart valve #Subaortic stenosis\n", + " definition of HP:0001682 (Subvalvular aortic stenosis)\n", + " \n", + " \n", + " Radioulnar synostosis\n", + " definition of HP:0002974 (Radioulnar synostosis)\n", + " \n", + " \n", + " An abnormal osseous union (fusion) between the radius and the ulna.\n", + " definition of HP:0002974 (Radioulnar synostosis)\n", + " \n", + " \n", + " #Fused forearm bones\n", + " definition of HP:0002974 (Radioulnar synostosis)\n", + " \n", + " \n", + " Pectoral muscle hypoplasia/aplasia\n", + " definition of HP:0005258 (Pectoral muscle hypoplasia/aplasia)\n", + " \n", + " \n", + " #Small/absent pec muscle #Underdeveloped/absent pec muscle\n", + " definition of HP:0005258 (Pectoral muscle hypoplasia/aplasia)\n", + " \n", + " \n", + " Bilateral fetal pyelectasis\n", + " definition of HP:0011129 (Bilateral fetal pyelectasis)\n", + " \n", + " \n", + " A bilateral form of fetal pyelectasis.\n", + " definition of HP:0011129 (Bilateral fetal pyelectasis)\n", + " \n", + " \n", + " #Bilateral fetal pyelectasia #Bilateral foetal pyelectasia #Bilateral foetal pyelectasis\n", + " definition of HP:0011129 (Bilateral fetal pyelectasis)\n", + " \n", + " \n", + " Rhabdomyoma\n", + " definition of HP:0009730 (Rhabdomyoma)\n", + " \n", + " \n", + " A benign tumor of striated muscle.\n", + " definition of HP:0009730 (Rhabdomyoma)\n", + " \n", + " \n", + " Ivory epiphyses\n", + " definition of HP:0010583 (Ivory epiphyses)\n", + " \n", + " \n", + " Sclerosis of the epiphyses, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.\n", + " definition of HP:0010583 (Ivory epiphyses)\n", + " \n", + " \n", + " #Epiphyseal sclerosis #Increased bone density in end part of bone\n", + " definition of HP:0010583 (Ivory epiphyses)\n", + " \n", + " \n", + " Anti-factor XIII antibody positivity\n", + " definition of HP:6000498 (Anti-factor XIII antibody positivity)\n", + " \n", + " \n", + " The presence of an antibody in the blood circulation that is directed against factor XIII.\n", + " definition of HP:6000498 (Anti-factor XIII antibody positivity)\n", + " \n", + " \n", + " #Anti-FXIII antibody positivity\n", + " definition of HP:6000498 (Anti-factor XIII antibody positivity)\n", + " \n", + " \n", + " Hypothalamic arteriovenous malformation\n", + " definition of HP:0031255 (Hypothalamic arteriovenous malformation)\n", + " \n", + " \n", + " An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the hypothalamus.\n", + " definition of HP:0031255 (Hypothalamic arteriovenous malformation)\n", + " \n", + " \n", + " Erythrodontia\n", + " definition of HP:0030756 (Erythrodontia)\n", + " \n", + " \n", + " Reddish, brown opalescent discoloration of teeth in normal light.\n", + " definition of HP:0030756 (Erythrodontia)\n", + " \n", + " \n", + " #Red teeth\n", + " definition of HP:0030756 (Erythrodontia)\n", + " \n", + " \n", + " Herpes simplex encephalitis\n", + " definition of HP:0012302 (Herpes simplex encephalitis)\n", + " \n", + " \n", + " Infection of the brain parenchyma with herpes simplex virus, resulting in inflammation of the brain parenchyma with neurologic dysfunction.\n", + " definition of HP:0012302 (Herpes simplex encephalitis)\n", + " \n", + " \n", + " #Herpes encephalitis\n", + " definition of HP:0012302 (Herpes simplex encephalitis)\n", + " \n", + " \n", + " Abnormal seminal vesicle morphology\n", + " definition of HP:6000190 (Abnormal seminal vesicle morphology)\n", + " \n", + " \n", + " A structural abnormality of the seminal vesicle. The seminal vesicles are a pair of glands that also include the prostate gland and the bulbourethral glands and are located in the pelvis superior to the rectum, inferior to the fundus of the bladder and posterior to the prostate. The seminal vesicles contribute around 70% of the fluid that will eventually become semen.\n", + " definition of HP:6000190 (Abnormal seminal vesicle morphology)\n", + " \n", + " \n", + " Microtia, second degree\n", + " definition of HP:0008569 (Microtia, second degree)\n", + " \n", + " \n", + " Median longitudinal length of the ear more than two standard deviations below the mean in the presence of some, but not all, parts of the normal ear.\n", + " definition of HP:0008569 (Microtia, second degree)\n", + " \n", + " \n", + " Carcinoma\n", + " definition of HP:0030731 (Carcinoma)\n", + " \n", + " \n", + " A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas (NCI Thesaurus).\n", + " definition of HP:0030731 (Carcinoma)\n", + " \n", + " \n", + " Reduced muscle fiber calpain-3\n", + " definition of HP:0030121 (Reduced muscle fiber calpain-3)\n", + " \n", + " \n", + " Western blot reveals reduced calpain-3 protein in the muscle biopsy tissue.\n", + " definition of HP:0030121 (Reduced muscle fiber calpain-3)\n", + " \n", + " \n", + " #Reduced muscle fibre calpain-3\n", + " definition of HP:0030121 (Reduced muscle fiber calpain-3)\n", + " \n", + " \n", + " Paroxysmal atrial fibrillation\n", + " definition of HP:0004757 (Paroxysmal atrial fibrillation)\n", + " \n", + " \n", + " Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously.\n", + " definition of HP:0004757 (Paroxysmal atrial fibrillation)\n", + " \n", + " \n", + " #Atrial fibrillation, paroxysmal #Intermittent atrial fibrillation #Paroxysmal AF\n", + " definition of HP:0004757 (Paroxysmal atrial fibrillation)\n", + " \n", + " \n", + " Abnormal breast physiology\n", + " definition of HP:0031094 (Abnormal breast physiology)\n", + " \n", + " \n", + " Any anomaly of the function of the breast.\n", + " definition of HP:0031094 (Abnormal breast physiology)\n", + " \n", + " \n", + " Motor neuron atrophy\n", + " definition of HP:0007373 (Motor neuron atrophy)\n", + " \n", + " \n", + " Wasting involving the motor neuron.\n", + " definition of HP:0007373 (Motor neuron atrophy)\n", + " \n", + " \n", + " #Motor neuron degeneration\n", + " definition of HP:0007373 (Motor neuron atrophy)\n", + " \n", + " \n", + " Peripapillary exudate\n", + " definition of HP:0025093 (Peripapillary exudate)\n", + " \n", + " \n", + " A retinal exudate in the area surrounding the optic nerve head.\n", + " definition of HP:0025093 (Peripapillary exudate)\n", + " \n", + " \n", + " #Peripapillary exudation\n", + " definition of HP:0025093 (Peripapillary exudate)\n", + " \n", + " \n", + " Hypoplasia of the antihelix\n", + " definition of HP:0009739 (Hypoplasia of the antihelix)\n", + " \n", + " \n", + " Developmental hypoplasia of the antihelix.\n", + " definition of HP:0009739 (Hypoplasia of the antihelix)\n", + " \n", + " \n", + " #Hypoplastic antihelix\n", + " definition of HP:0009739 (Hypoplasia of the antihelix)\n", + " \n", + " \n", + " Rectal abscess\n", + " definition of HP:0005224 (Rectal abscess)\n", + " \n", + " \n", + " A collection of pus in the area of the rectum.\n", + " definition of HP:0005224 (Rectal abscess)\n", + " \n", + " \n", + " #Perirectal abscess\n", + " definition of HP:0005224 (Rectal abscess)\n", + " \n", + " \n", + " Bronchomalacia\n", + " definition of HP:0002780 (Bronchomalacia)\n", + " \n", + " \n", + " Weakness or softness of the cartilage in the walls of the bronchial tubes.\n", + " definition of HP:0002780 (Bronchomalacia)\n", + " \n", + " \n", + " 1-minute APGAR score of 0\n", + " definition of HP:0030927 (1-minute APGAR score of 0)\n", + " \n", + " \n", + " Os odontoideum\n", + " definition of HP:0005667 (Os odontoideum)\n", + " \n", + " \n", + " Separation of the odontoid process from the body of the axis.\n", + " definition of HP:0005667 (Os odontoideum)\n", + " \n", + " \n", + " Recurrent ear infections\n", + " definition of HP:0410018 (Recurrent ear infections)\n", + " \n", + " \n", + " Increased susceptibility to ear infections, as manifested by recurrent episodes of ear infections.\n", + " definition of HP:0410018 (Recurrent ear infections)\n", + " \n", + " \n", + " #Frequent ear infections #Recurrent ear infections\n", + " definition of HP:0410018 (Recurrent ear infections)\n", + " \n", + " \n", + " Occasional\n", + " definition of HP:0040283 (Occasional)\n", + " \n", + " \n", + " Present in 5% to 29% of the cases.\n", + " definition of HP:0040283 (Occasional)\n", + " \n", + " \n", + " #Occasional (29-5%)\n", + " definition of HP:0040283 (Occasional)\n", + " \n", + " \n", + " Oral mucosa nodule\n", + " definition of HP:0031445 (Oral mucosa nodule)\n", + " \n", + " \n", + " A palpable, solid lesion greater than 5mm in diameter. that is located in the mucosa of the mouth.\n", + " definition of HP:0031445 (Oral mucosa nodule)\n", + " \n", + " \n", + " Proximal to distal progression\n", + " definition of HP:6000305 (Proximal to distal progression)\n", + " \n", + " \n", + " Refers to symptomatology that begins in the proximal limbs and subsequently affects the distal limbs.\n", + " definition of HP:6000305 (Proximal to distal progression)\n", + " \n", + " \n", + " Nocturia\n", + " definition of HP:0000017 (Nocturia)\n", + " \n", + " \n", + " Abnormally increased production of urine during the night leading to an unusually frequent need to urinate.\n", + " definition of HP:0000017 (Nocturia)\n", + " \n", + " \n", + " #Nycturia\n", + " definition of HP:0000017 (Nocturia)\n", + " \n", + " \n", + " Hypoplastic toenails\n", + " definition of HP:0001800 (Hypoplastic toenails)\n", + " \n", + " \n", + " Underdevelopment of the toenail.\n", + " definition of HP:0001800 (Hypoplastic toenails)\n", + " \n", + " \n", + " #Underdeveloped toenails\n", + " definition of HP:0001800 (Hypoplastic toenails)\n", + " \n", + " \n", + " Abnormal multifocal electroretinogram\n", + " definition of HP:0030468 (Abnormal multifocal electroretinogram)\n", + " \n", + " \n", + " Optic nerve sheath meningioma\n", + " definition of HP:0500089 (Optic nerve sheath meningioma)\n", + " \n", + " \n", + " A benign tumor of meningothelial cells of the meninges that usually occurs in middle age. It is typically unilateral and there is an association with neurofibromatosis type 2.\n", + " definition of HP:0500089 (Optic nerve sheath meningioma)\n", + " \n", + " \n", + " Elevated pulmonary artery pressure\n", + " definition of HP:0004890 (Elevated pulmonary artery pressure)\n", + " \n", + " \n", + " An abnormally elevated blood pressure in the circulation of the pulmonary artery.\n", + " definition of HP:0004890 (Elevated pulmonary artery pressure)\n", + " \n", + " \n", + " #Elevated lung artery pressure #increased pulmonary artery pressure\n", + " definition of HP:0004890 (Elevated pulmonary artery pressure)\n", + " \n", + " \n", + " Short proximal phalanx of the 2nd finger\n", + " definition of HP:0009597 (Short proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Hypoplasia (congenital reduction in size) of the proximal phalanx of the second finger.\n", + " definition of HP:0009597 (Short proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Hypoplastic/small proximal phalanx of the 2nd finger #Short proximal index finger phalanx #Short proximal phalanx of the second finger\n", + " definition of HP:0009597 (Short proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Multiple pulmonary interstitial hyalinized nodules\n", + " definition of HP:0033248 (Multiple pulmonary interstitial hyalinized nodules)\n", + " \n", + " \n", + " Fibrosing nodules, consisting of either unilateral or bilateral central whorled deposits of lamellar collagen hyalin.\n", + " definition of HP:0033248 (Multiple pulmonary interstitial hyalinized nodules)\n", + " \n", + " \n", + " Thin toenail\n", + " definition of HP:0012746 (Thin toenail)\n", + " \n", + " \n", + " Toenail that appears thin when viewed on end.\n", + " definition of HP:0012746 (Thin toenail)\n", + " \n", + " \n", + " #Thin toenail\n", + " definition of HP:0012746 (Thin toenail)\n", + " \n", + " \n", + " Humeroradial synostosis\n", + " definition of HP:0003041 (Humeroradial synostosis)\n", + " \n", + " \n", + " An abnormal osseous union (fusion) between the radius and the humerus.\n", + " definition of HP:0003041 (Humeroradial synostosis)\n", + " \n", + " \n", + " #Fusion of upper and lower arm bones #Humeral radial synostosis #Humeral-radial synostosis #Radiohumeral synostosis of elbow #Synostosis of radius and humerus\n", + " definition of HP:0003041 (Humeroradial synostosis)\n", + " \n", + " \n", + " 10-minute APGAR score of 6\n", + " definition of HP:0033474 (10-minute APGAR score of 6)\n", + " \n", + " \n", + " Sertoli cell neoplasm\n", + " definition of HP:0100619 (Sertoli cell neoplasm)\n", + " \n", + " \n", + " The presence of a neoplasm of the testis with origin in a Sertoli cell.\n", + " definition of HP:0100619 (Sertoli cell neoplasm)\n", + " \n", + " \n", + " Developmental cataract\n", + " definition of HP:0000519 (Developmental cataract)\n", + " \n", + " \n", + " A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.\n", + " definition of HP:0000519 (Developmental cataract)\n", + " \n", + " \n", + " #Bilateral congenital cataracts #Cataract, congenital #Clouding of the lens of the eye at birth #Congenital cataract #Congenital cataracts #Congenital cataracts, bilateral\n", + " definition of HP:0000519 (Developmental cataract)\n", + " \n", + " \n", + " Increased serum bile acid concentration\n", + " definition of HP:0012202 (Increased serum bile acid concentration)\n", + " \n", + " \n", + " An increase in the concentration of bile acid in the blood.\n", + " definition of HP:0012202 (Increased serum bile acid concentration)\n", + " \n", + " \n", + " Hyperpyrexia\n", + " definition of HP:0033031 (Hyperpyrexia)\n", + " \n", + " \n", + " An extreme elevation of core body temperature above normal defined as a rectal temperature of 41.1 degrees Celsius (106 degrees Fahrenheit).\n", + " definition of HP:0033031 (Hyperpyrexia)\n", + " \n", + " \n", + " Pancreatic islet-cell hyperplasia\n", + " definition of HP:0004510 (Pancreatic islet-cell hyperplasia)\n", + " \n", + " \n", + " Hyperplasia of the islets of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells.\n", + " definition of HP:0004510 (Pancreatic islet-cell hyperplasia)\n", + " \n", + " \n", + " #Hyperplastic islets of langerhans #Hypertrophic pancreatic islets #Islet of Langerhans hyperplasia #Islets of langerhans hypertrophy #Pancreatic islet-cell hypertrophy\n", + " definition of HP:0004510 (Pancreatic islet-cell hyperplasia)\n", + " \n", + " \n", + " Hurthle cell thyroid adenoma\n", + " definition of HP:0006781 (Hurthle cell thyroid adenoma)\n", + " \n", + " \n", + " A kind of thyroid adenoma characterized by the presence of oxyphil cells.\n", + " definition of HP:0006781 (Hurthle cell thyroid adenoma)\n", + " \n", + " \n", + " Granular corneal dystrophy\n", + " definition of HP:0007802 (Granular corneal dystrophy)\n", + " \n", + " \n", + " The presence of central, fine, whitish granular lesions in the stroma of the cornea. This type of corneal dystrophy is usually asymptomatic and begins in childhood and shows a slow progression. Later in the course, the corneal epithelium and Bowman's layer may be affected. Histologically, the cornea shows a uniform deposition of hyaline material.\n", + " definition of HP:0007802 (Granular corneal dystrophy)\n", + " \n", + " \n", + " Absent sperm flagella\n", + " definition of HP:0032558 (Absent sperm flagella)\n", + " \n", + " \n", + " Sperm cells lacking flagella.\n", + " definition of HP:0032558 (Absent sperm flagella)\n", + " \n", + " \n", + " Hypoplasia of the dental root\n", + " definition of HP:0040221 (Hypoplasia of the dental root)\n", + " \n", + " \n", + " Irregular epiphysis of the middle phalanx of the 3rd finger\n", + " definition of HP:0009326 (Irregular epiphysis of the middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " Irregular radiographic opacity of the epiphysis of the middle phalanx of the 3rd finger.\n", + " definition of HP:0009326 (Irregular epiphysis of the middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Irregular end part of the middle bone of the middle finger\n", + " definition of HP:0009326 (Irregular epiphysis of the middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " Craniofacial asymmetry\n", + " definition of HP:0004484 (Craniofacial asymmetry)\n", + " \n", + " \n", + " Asymmetry of the bones of the skull and the face.\n", + " definition of HP:0004484 (Craniofacial asymmetry)\n", + " \n", + " \n", + " #Uneven craniofacial structures\n", + " definition of HP:0004484 (Craniofacial asymmetry)\n", + " \n", + " \n", + " Abnormality of the urinary system physiology\n", + " definition of HP:0011277 (Abnormality of the urinary system physiology)\n", + " \n", + " \n", + " Increased urinary sulfite level\n", + " definition of HP:0011942 (Increased urinary sulfite level)\n", + " \n", + " \n", + " The concentration of SO3(2-), i.e., sulfite, in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:0011942 (Increased urinary sulfite level)\n", + " \n", + " \n", + " Aplasia cutis congenita over posterior parietal area\n", + " definition of HP:0007590 (Aplasia cutis congenita over posterior parietal area)\n", + " \n", + " \n", + " Focal aware hyperkinetic seizure\n", + " definition of HP:0032731 (Focal aware hyperkinetic seizure)\n", + " \n", + " \n", + " A type of focal hypermotor seizure during which awareness is fully retained throughout.\n", + " definition of HP:0032731 (Focal aware hyperkinetic seizure)\n", + " \n", + " \n", + " Plantar pits\n", + " definition of HP:0010612 (Plantar pits)\n", + " \n", + " \n", + " The presence of multiple pits (small, pinpoint-large indentations on the surface of the skin) located on the skin of sole of foot.\n", + " definition of HP:0010612 (Plantar pits)\n", + " \n", + " \n", + " Abnormal muscle fiber protein expression\n", + " definition of HP:0030089 (Abnormal muscle fiber protein expression)\n", + " \n", + " \n", + " An anomalous amount of protein present in or on the surface of muscle fibers. This feature may be appreciate upon immunohistochemical investigation of muscle biopsy tissue.\n", + " definition of HP:0030089 (Abnormal muscle fiber protein expression)\n", + " \n", + " \n", + " #Abnormal muscle fibre protein expression\n", + " definition of HP:0030089 (Abnormal muscle fiber protein expression)\n", + " \n", + " \n", + " Left unilambdoid synostosis\n", + " definition of HP:0011321 (Left unilambdoid synostosis)\n", + " \n", + " \n", + " Premature synostosis of only the left lambdoid suture.\n", + " definition of HP:0011321 (Left unilambdoid synostosis)\n", + " \n", + " \n", + " Patchy sclerosis of hallux phalanx\n", + " definition of HP:0010063 (Patchy sclerosis of hallux phalanx)\n", + " \n", + " \n", + " Patchy (irregular) increase in bone density of one or more phalanges of the big toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.\n", + " definition of HP:0010063 (Patchy sclerosis of hallux phalanx)\n", + " \n", + " \n", + " #Patchy sclerosis of the phalanges of the hallux #Uneven increase in bone density in big toe bone\n", + " definition of HP:0010063 (Patchy sclerosis of hallux phalanx)\n", + " \n", + " \n", + " Abnormal cricoid cartilage morphology\n", + " definition of HP:3000038 (Abnormal cricoid cartilage morphology)\n", + " \n", + " \n", + " Any structural abnormality of a cricoid cartilage, that is, of the ring-shaped cartilage of the larynx.\n", + " definition of HP:3000038 (Abnormal cricoid cartilage morphology)\n", + " \n", + " \n", + " #Abnormality of cricoid cartilage\n", + " definition of HP:3000038 (Abnormal cricoid cartilage morphology)\n", + " \n", + " \n", + " Elevated fecal osmolality\n", + " definition of HP:0032486 (Elevated fecal osmolality)\n", + " \n", + " \n", + " Abnormally high concentration of feces as assessed by the total number of solute particles per kilogram.\n", + " definition of HP:0032486 (Elevated fecal osmolality)\n", + " \n", + " \n", + " #Elevated faecal osmolality\n", + " definition of HP:0032486 (Elevated fecal osmolality)\n", + " \n", + " \n", + " Reduced cystathionine beta-synthase activity in cultured fibroblasts\n", + " definition of HP:6000357 (Reduced cystathionine beta-synthase activity in cultured fibroblasts)\n", + " \n", + " \n", + " Activity of cystathionine beta-synthase (EC 4.2.1.22) below the lower limit of normal in cultured fibroblasts.\n", + " definition of HP:6000357 (Reduced cystathionine beta-synthase activity in cultured fibroblasts)\n", + " \n", + " \n", + " Interstitial cardiac fibrosis\n", + " definition of HP:0031329 (Interstitial cardiac fibrosis)\n", + " \n", + " \n", + " A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in interstitial spaces.\n", + " definition of HP:0031329 (Interstitial cardiac fibrosis)\n", + " \n", + " \n", + " Verruciform xanthoma\n", + " definition of HP:0031517 (Verruciform xanthoma)\n", + " \n", + " \n", + " A papillary or cauliflower-like growth characterized by the presence of foamy histiocytes within the elongated dermal papillae forms.\n", + " definition of HP:0031517 (Verruciform xanthoma)\n", + " \n", + " \n", + " Seborrheic dermatitis\n", + " definition of HP:0001051 (Seborrheic dermatitis)\n", + " \n", + " \n", + " Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk.\n", + " definition of HP:0001051 (Seborrheic dermatitis)\n", + " \n", + " \n", + " #Seborrhea #Seborrheic eczema\n", + " definition of HP:0001051 (Seborrheic dermatitis)\n", + " \n", + " \n", + " Morbilliform\n", + " definition of HP:0025296 (Morbilliform)\n", + " \n", + " \n", + " Applies to an abnormality whose distribution and appearance resembles that of measles, i.e., maculopapular lesions that are red and roughly 2 to 10 mm in diameter and may be partially confluent.\n", + " definition of HP:0025296 (Morbilliform)\n", + " \n", + " \n", + " Abnormal morphology of the great vessels\n", + " definition of HP:0030962 (Abnormal morphology of the great vessels)\n", + " \n", + " \n", + " A structural anomaly affecting a blood vessel involved in the circulation of the heart, i.e., the superior or inferior vena cava, the pulmonary arteries, the pulmonary veins, and the aorta.\n", + " definition of HP:0030962 (Abnormal morphology of the great vessels)\n", + " \n", + " \n", + " Fragile skin\n", + " definition of HP:0001030 (Fragile skin)\n", + " \n", + " \n", + " Skin that splits easily with minimal injury.\n", + " definition of HP:0001030 (Fragile skin)\n", + " \n", + " \n", + " #Fragile skin #Skin fragility\n", + " definition of HP:0001030 (Fragile skin)\n", + " \n", + " \n", + " Bilateral facial palsy\n", + " definition of HP:0430025 (Bilateral facial palsy)\n", + " \n", + " \n", + " Two-sided or bilateral weakness of the muscles of facial expression and eye closure.\n", + " definition of HP:0430025 (Bilateral facial palsy)\n", + " \n", + " \n", + " #Bilateral facial muscle paralysis #Bilateral facial muscle weakness #Bilateral facial paralysis #Paralysis of both sides of the face #Weakness of both sides of the face\n", + " definition of HP:0430025 (Bilateral facial palsy)\n", + " \n", + " \n", + " Hyperplastic callus formation\n", + " definition of HP:0030268 (Hyperplastic callus formation)\n", + " \n", + " \n", + " Increased growth of callus, the bony and cartilaginous material that forms a connecting bridge across a bone fracture during fracture healing.\n", + " definition of HP:0030268 (Hyperplastic callus formation)\n", + " \n", + " \n", + " Type 2 schizencephaly\n", + " definition of HP:0025703 (Type 2 schizencephaly)\n", + " \n", + " \n", + " A type of Schizencephaly in which CSF-containing cleft is present with abutting lining lips of abnormal gray matter that are opposed to each other.\n", + " definition of HP:0025703 (Type 2 schizencephaly)\n", + " \n", + " \n", + " Fixation-off epileptiform discharges\n", + " definition of HP:0025644 (Fixation-off epileptiform discharges)\n", + " \n", + " \n", + " Fixation off sensitivity (FOS) is characterized by posterior or generalized epileptiform discharges that consistently occur with conditions that eliminate central vision, such as closed eyes, complete darkness, modified Ganzfeld stimulation (using a large white surface without visual cues), and Frenzel lenses. The FOS electroencephalogram (EEG) pattern usually consists of spikes/polyspikes and waves localized in occipital regions (bilateral or unilateral) or generalized discharges. It is usually inhibited by fixation of gaze, observing patterns, or intermittent photic stimulation (e.g., flashing light or patterns used as stimuli during the recording of the EEG).\n", + " definition of HP:0025644 (Fixation-off epileptiform discharges)\n", + " \n", + " \n", + " #Fixation-off sensitivity\n", + " definition of HP:0025644 (Fixation-off epileptiform discharges)\n", + " \n", + " \n", + " Hypoplasia of the pons\n", + " definition of HP:0012110 (Hypoplasia of the pons)\n", + " \n", + " \n", + " Underdevelopment of the pons.\n", + " definition of HP:0012110 (Hypoplasia of the pons)\n", + " \n", + " \n", + " #Pontine hypoplasia\n", + " definition of HP:0012110 (Hypoplasia of the pons)\n", + " \n", + " \n", + " Blood pressure substantially higher in arms than legs\n", + " definition of HP:0020142 (Blood pressure substantially higher in arms than legs)\n", + " \n", + " \n", + " An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the arms being much higher than the blood pressure measure in the legs. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm.\n", + " definition of HP:0020142 (Blood pressure substantially higher in arms than legs)\n", + " \n", + " \n", + " #Blood pressure substantially higher in upper than lower extremities #Increased arm-leg blood pressure gradient\n", + " definition of HP:0020142 (Blood pressure substantially higher in arms than legs)\n", + " \n", + " \n", + " Decreased CSF arginine concentration\n", + " definition of HP:0500204 (Decreased CSF arginine concentration)\n", + " \n", + " \n", + " Abnormally decreased levels of arginine in cerebrospinal fluid.\n", + " definition of HP:0500204 (Decreased CSF arginine concentration)\n", + " \n", + " \n", + " #Low arginine levels in cerebrospinal fluid\n", + " definition of HP:0500204 (Decreased CSF arginine concentration)\n", + " \n", + " \n", + " Laryngospasm\n", + " definition of HP:0025425 (Laryngospasm)\n", + " \n", + " \n", + " A spasm (involuntary contraction) of the vocal cords that can make it difficult to speak or breathe.\n", + " definition of HP:0025425 (Laryngospasm)\n", + " \n", + " \n", + " Chronic rhinitis\n", + " definition of HP:0002257 (Chronic rhinitis)\n", + " \n", + " \n", + " Chronic inflammation of the nasal mucosa.\n", + " definition of HP:0002257 (Chronic rhinitis)\n", + " \n", + " \n", + " Abnormality of endocrine pancreas physiology\n", + " definition of HP:0012093 (Abnormality of endocrine pancreas physiology)\n", + " \n", + " \n", + " A function abnormality of the endocrine pancreas.\n", + " definition of HP:0012093 (Abnormality of endocrine pancreas physiology)\n", + " \n", + " \n", + " Unaided visual acuity 2.0 LogMAR\n", + " definition of HP:0030549 (Unaided visual acuity 2.0 LogMAR)\n", + " \n", + " \n", + " Complete duplication of distal phalanx of the thumb\n", + " definition of HP:0009606 (Complete duplication of distal phalanx of the thumb)\n", + " \n", + " \n", + " Complete duplication of the distal phalanx of the thumb. On x-ray two separate bones appear side to side.\n", + " definition of HP:0009606 (Complete duplication of distal phalanx of the thumb)\n", + " \n", + " \n", + " #Complete duplication of outermost bone of the thumb\n", + " definition of HP:0009606 (Complete duplication of distal phalanx of the thumb)\n", + " \n", + " \n", + " Abnormal hand cortical bone morphology\n", + " definition of HP:0005926 (Abnormal hand cortical bone morphology)\n", + " \n", + " \n", + " An anomaly of the outer shell (cortex) of a hand bone.\n", + " definition of HP:0005926 (Abnormal hand cortical bone morphology)\n", + " \n", + " \n", + " #Abnormality of hand cortical bone #Abnormality of the cortex of hand bones\n", + " definition of HP:0005926 (Abnormal hand cortical bone morphology)\n", + " \n", + " \n", + " Bundle branch block\n", + " definition of HP:0011710 (Bundle branch block)\n", + " \n", + " \n", + " Block of conduction of electrical impulses along the Bundle of His or along one of its bundle branches.\n", + " definition of HP:0011710 (Bundle branch block)\n", + " \n", + " \n", + " #Bundle-branch block\n", + " definition of HP:0011710 (Bundle branch block)\n", + " \n", + " \n", + " Broad proximal phalanx of the 4th finger\n", + " definition of HP:0009310 (Broad proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " Increased width of the proximal phalanx of the 4th finger.\n", + " definition of HP:0009310 (Broad proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " #Broad innermost ring finger bone\n", + " definition of HP:0009310 (Broad proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " Infancy onset short-trunk short stature\n", + " definition of HP:0011406 (Infancy onset short-trunk short stature)\n", + " \n", + " \n", + " A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in infancy.\n", + " definition of HP:0011406 (Infancy onset short-trunk short stature)\n", + " \n", + " \n", + " #Short-trunk dwarfism, identifiable in infancy\n", + " definition of HP:0011406 (Infancy onset short-trunk short stature)\n", + " \n", + " \n", + " Postaxial hand polydactyly\n", + " definition of HP:0001162 (Postaxial hand polydactyly)\n", + " \n", + " \n", + " Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).\n", + " definition of HP:0001162 (Postaxial hand polydactyly)\n", + " \n", + " \n", + " #Extra little finger #Extra pinkie finger #Extra pinky finger #Polydactyly affecting the 5th finger #Postaxial polydactyly of fingers #Postaxial polydactyly of hand #Postaxial polydactyly of hands\n", + " definition of HP:0001162 (Postaxial hand polydactyly)\n", + " \n", + " \n", + " Polyostotic fibrous dysplasia\n", + " definition of HP:0010735 (Polyostotic fibrous dysplasia)\n", + " \n", + " \n", + " Fibrous dysplasia of the bones were lesions are localized in many bones throughout of the body. Polyostotic fibrous dysplasia is a cardinal feature of McCune-Albright syndrome.\n", + " definition of HP:0010735 (Polyostotic fibrous dysplasia)\n", + " \n", + " \n", + " Type 3 congenital pulmonary airway malformation\n", + " definition of HP:0025727 (Type 3 congenital pulmonary airway malformation)\n", + " \n", + " \n", + " A type of congenital pulmonary airway malformation that is characterized by a bulky firm mass with an adenomatoid appearance.\n", + " definition of HP:0025727 (Type 3 congenital pulmonary airway malformation)\n", + " \n", + " \n", + " Anti-Zinc transporter 8 antibody positivity\n", + " definition of HP:0034065 (Anti-Zinc transporter 8 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against zinc transporter 8.\n", + " definition of HP:0034065 (Anti-Zinc transporter 8 antibody positivity)\n", + " \n", + " \n", + " #Anti ZnT8 autoantibodies\n", + " definition of HP:0034065 (Anti-Zinc transporter 8 antibody positivity)\n", + " \n", + " \n", + " Focal non-convulsive status epilepticus without coma\n", + " definition of HP:0032673 (Focal non-convulsive status epilepticus without coma)\n", + " \n", + " \n", + " Focal non-convulsive status epilepticus without coma is a type of status epilepticus without prominent motor signs, which is electrographically focal. It is a prolonged focal non-motor seizure.\n", + " definition of HP:0032673 (Focal non-convulsive status epilepticus without coma)\n", + " \n", + " \n", + " Enlarged epiphyses of the toes\n", + " definition of HP:0010165 (Enlarged epiphyses of the toes)\n", + " \n", + " \n", + " #Enlarged end part of the toe bones\n", + " definition of HP:0010165 (Enlarged epiphyses of the toes)\n", + " \n", + " \n", + " Increased level of hexanoylglycine in urine\n", + " definition of HP:0500255 (Increased level of hexanoylglycine in urine)\n", + " \n", + " \n", + " Elevated concentration of hexanoylglycine in the urine.\n", + " definition of HP:0500255 (Increased level of hexanoylglycine in urine)\n", + " \n", + " \n", + " #Elevated urinary N-hexanoylglycine concentration\n", + " definition of HP:0500255 (Increased level of hexanoylglycine in urine)\n", + " \n", + " \n", + " Bulbar palsy\n", + " definition of HP:0001283 (Bulbar palsy)\n", + " \n", + " \n", + " Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia.\n", + " definition of HP:0001283 (Bulbar palsy)\n", + " \n", + " \n", + " #Bulbar muscle weakness #Bulbar palsies #Bulbar weakness\n", + " definition of HP:0001283 (Bulbar palsy)\n", + " \n", + " \n", + " Abnormal Humphrey SITA 24-2 perimetry test\n", + " definition of HP:0030597 (Abnormal Humphrey SITA 24-2 perimetry test)\n", + " \n", + " \n", + " Erythema\n", + " definition of HP:0010783 (Erythema)\n", + " \n", + " \n", + " Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.\n", + " definition of HP:0010783 (Erythema)\n", + " \n", + " \n", + " #Redness of skin or mucous membrane\n", + " definition of HP:0010783 (Erythema)\n", + " \n", + " \n", + " Limited repertoire of facial expression\n", + " definition of HP:5200002 (Limited repertoire of facial expression)\n", + " \n", + " \n", + " An abnormally limited range of facial expressions demonstrated by a lack of nuance of facial expression to match specific social situations or an inability to demonstrate a normal range of emotions with one's face.\n", + " definition of HP:5200002 (Limited repertoire of facial expression)\n", + " \n", + " \n", + " #Reduced range of facial expressions\n", + " definition of HP:5200002 (Limited repertoire of facial expression)\n", + " \n", + " \n", + " Polydactyly affecting the 2nd toe\n", + " definition of HP:0010328 (Polydactyly affecting the 2nd toe)\n", + " \n", + " \n", + " Chronic (near) absent circulating IgG1\n", + " definition of HP:0041069 (Chronic (near) absent circulating IgG1)\n", + " \n", + " \n", + " A lasting absence of immunoglobulin G1 (IgG1) in the blood, whereby at most trace quantities of IgG1 can be measured.\n", + " definition of HP:0041069 (Chronic (near) absent circulating IgG1)\n", + " \n", + " \n", + " #Chronic (near) absent IgG1 in blood\n", + " definition of HP:0041069 (Chronic (near) absent circulating IgG1)\n", + " \n", + " \n", + " Hypovolemia\n", + " definition of HP:0011106 (Hypovolemia)\n", + " \n", + " \n", + " An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood.\n", + " definition of HP:0011106 (Hypovolemia)\n", + " \n", + " \n", + " #Depleted blood volume\n", + " definition of HP:0011106 (Hypovolemia)\n", + " \n", + " \n", + " Bent sperm flagella\n", + " definition of HP:0034811 (Bent sperm flagella)\n", + " \n", + " \n", + " The proportion of sperm cells whose flagella is sharply curved or has a sharp angle is above normal limits.\n", + " definition of HP:0034811 (Bent sperm flagella)\n", + " \n", + " \n", + " Malaligned carpal bone\n", + " definition of HP:0006092 (Malaligned carpal bone)\n", + " \n", + " \n", + " Malalignement of carpal bone angles either with respect to each other, to the corresponding metacarpals or with respect to the wrist (radius and ulna).\n", + " definition of HP:0006092 (Malaligned carpal bone)\n", + " \n", + " \n", + " #Incorrect alignment of wrist bone\n", + " definition of HP:0006092 (Malaligned carpal bone)\n", + " \n", + " \n", + " Reduced circulating C-reactive protein concecntration\n", + " definition of HP:0032437 (Reduced circulating C-reactive protein concecntration)\n", + " \n", + " \n", + " An abnormal decrease of the C-reactive protein level in serum.\n", + " definition of HP:0032437 (Reduced circulating C-reactive protein concecntration)\n", + " \n", + " \n", + " #Reduced C-reactive protein level\n", + " definition of HP:0032437 (Reduced circulating C-reactive protein concecntration)\n", + " \n", + " \n", + " Congenital peripheral neuropathy\n", + " definition of HP:0006903 (Congenital peripheral neuropathy)\n", + " \n", + " \n", + " Areflexia of lower limbs\n", + " definition of HP:0002522 (Areflexia of lower limbs)\n", + " \n", + " \n", + " Inability to elicit tendon reflexes in the lower limbs.\n", + " definition of HP:0002522 (Areflexia of lower limbs)\n", + " \n", + " \n", + " #Absent lower limb tendon reflexes #Areflexia in lower limbs #Areflexia of the lower limbs #Areflexia, lower limbs\n", + " definition of HP:0002522 (Areflexia of lower limbs)\n", + " \n", + " \n", + " Bull's eye rash\n", + " definition of HP:0040325 (Bull's eye rash)\n", + " \n", + " \n", + " A cutaneous eruption that consists of multiple (at least two) concentric erythematous rings.\n", + " definition of HP:0040325 (Bull's eye rash)\n", + " \n", + " \n", + " Mitral valve leaflet calcification\n", + " definition of HP:0033642 (Mitral valve leaflet calcification)\n", + " \n", + " \n", + " Deposition of calcium salts in the leaflets (cusps) of the mitral valve.\n", + " definition of HP:0033642 (Mitral valve leaflet calcification)\n", + " \n", + " \n", + " Decreased circulating transcobalamin I concentration\n", + " definition of HP:6000967 (Decreased circulating transcobalamin I concentration)\n", + " \n", + " \n", + " Concentration of transcobalamin I in the blood circulation below the lower limit of normal.\n", + " definition of HP:6000967 (Decreased circulating transcobalamin I concentration)\n", + " \n", + " \n", + " #Decreased circulating cobalophilin concentration #Decreased circulating haptocorrin concentration #Decreased circulating R vitamin B12 binder protein concentration\n", + " definition of HP:6000967 (Decreased circulating transcobalamin I concentration)\n", + " \n", + " \n", + " Hypocitraturia\n", + " definition of HP:0012405 (Hypocitraturia)\n", + " \n", + " \n", + " A lower than normal concentration of citrate(3-) in the urine.\n", + " definition of HP:0012405 (Hypocitraturia)\n", + " \n", + " \n", + " #Decreased urine citrate concentration\n", + " definition of HP:0012405 (Hypocitraturia)\n", + " \n", + " \n", + " Decreased circulating follicle stimulating hormone concentration\n", + " definition of HP:0030341 (Decreased circulating follicle stimulating hormone concentration)\n", + " \n", + " \n", + " A reduction of the circulating level of follicle-stimulating hormone (FSH).\n", + " definition of HP:0030341 (Decreased circulating follicle stimulating hormone concentration)\n", + " \n", + " \n", + " #Decreased circulating follicle stimulating hormone level\n", + " definition of HP:0030341 (Decreased circulating follicle stimulating hormone concentration)\n", + " \n", + " \n", + " Thinned small intestinal mucosa\n", + " definition of HP:6000337 (Thinned small intestinal mucosa)\n", + " \n", + " \n", + " Abrnormal reduction in the height of the mucosa of the small intestine. The mucosa is arranged in regular circular folds (the circular valves of Kerckrin), the mucosal surface is covered with small projections called villi, which are slender, about 1.5-2 mm long projections of the mucosa into the lumen. In between the villi are the crypts. This term refers to a pathological thinning of these structures.\n", + " definition of HP:6000337 (Thinned small intestinal mucosa)\n", + " \n", + " \n", + " Paroxysmal dystonia\n", + " definition of HP:0002268 (Paroxysmal dystonia)\n", + " \n", + " \n", + " A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes.\n", + " definition of HP:0002268 (Paroxysmal dystonia)\n", + " \n", + " \n", + " #Episodic dystonia\n", + " definition of HP:0002268 (Paroxysmal dystonia)\n", + " \n", + " \n", + " Increased urinary fucosylated oligosaccharide\n", + " definition of HP:0410350 (Increased urinary fucosylated oligosaccharide)\n", + " \n", + " \n", + " An abnormal increase in the concentration of small fucosylated oligosaccharides in the urine.\n", + " definition of HP:0410350 (Increased urinary fucosylated oligosaccharide)\n", + " \n", + " \n", + " #Increased concentration of fucosylated oligosaccharides in urine\n", + " definition of HP:0410350 (Increased urinary fucosylated oligosaccharide)\n", + " \n", + " \n", + " Partial left sided absence of pericardium\n", + " definition of HP:0011634 (Partial left sided absence of pericardium)\n", + " \n", + " \n", + " A congenital anomaly with lack of part of the pericardium on the lefthand side of the heart.\n", + " definition of HP:0011634 (Partial left sided absence of pericardium)\n", + " \n", + " \n", + " Thistle tube shaped pulp\n", + " definition of HP:0033790 (Thistle tube shaped pulp)\n", + " \n", + " \n", + " A thistle tube shape of the pulp chamber, meaning an enlarged coronal pulp chamber with narrow pulp canals giving a radiographic appearance of the shape of a thistle tube or a flame. It may occur isolated or associated with other dental anomalies and rare diseases such as dentinogenesis imperfecta, which should be assessed and coded separately. The diagnosis thistle tube shape pulp requires clinical and radiographic examinations.\n", + " definition of HP:0033790 (Thistle tube shaped pulp)\n", + " \n", + " \n", + " #Flame-shaped pulp\n", + " definition of HP:0033790 (Thistle tube shaped pulp)\n", + " \n", + " \n", + " Decreased circulating osteocalcin level\n", + " definition of HP:0031429 (Decreased circulating osteocalcin level)\n", + " \n", + " \n", + " A reduced level of osteocalcin in the blood.\n", + " definition of HP:0031429 (Decreased circulating osteocalcin level)\n", + " \n", + " \n", + " Anti-salivary protein antibody positivity\n", + " definition of HP:0034064 (Anti-salivary protein antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against salivary protein.\n", + " definition of HP:0034064 (Anti-salivary protein antibody positivity)\n", + " \n", + " \n", + " #Anti-SP1 antibody positivity\n", + " definition of HP:0034064 (Anti-salivary protein antibody positivity)\n", + " \n", + " \n", + " Pituitary blastoma\n", + " definition of HP:0034921 (Pituitary blastoma)\n", + " \n", + " \n", + " Pituitary blastoma is a distinctive anterior hypophyseal tumor of infants\n", + " definition of HP:0034921 (Pituitary blastoma)\n", + " \n", + " \n", + " Triggered by fructose ingestion\n", + " definition of HP:0025209 (Triggered by fructose ingestion)\n", + " \n", + " \n", + " Applies to a sign or symptom that is provoked or brought about by eating or drinking fructose.\n", + " definition of HP:0025209 (Triggered by fructose ingestion)\n", + " \n", + " \n", + " #Triggered by fruit sugar\n", + " definition of HP:0025209 (Triggered by fructose ingestion)\n", + " \n", + " \n", + " Bleeding requiring red cell transfusion\n", + " definition of HP:0011888 (Bleeding requiring red cell transfusion)\n", + " \n", + " \n", + " Bleeding sufficiently severe as to require red cell transfusion (WHO Grade 3 or 4).\n", + " definition of HP:0011888 (Bleeding requiring red cell transfusion)\n", + " \n", + " \n", + " #Bleeding requiring red cell transfusion\n", + " definition of HP:0011888 (Bleeding requiring red cell transfusion)\n", + " \n", + " \n", + " Pain worse when lying flat\n", + " definition of HP:6000014 (Pain worse when lying flat)\n", + " \n", + " \n", + " Refers to pain that is worse when the affected individual lies down (flat).\n", + " definition of HP:6000014 (Pain worse when lying flat)\n", + " \n", + " \n", + " #Pain worse when lying down\n", + " definition of HP:6000014 (Pain worse when lying flat)\n", + " \n", + " \n", + " Cerebral cortical neurodegeneration\n", + " definition of HP:0006964 (Cerebral cortical neurodegeneration)\n", + " \n", + " \n", + " Inappropriate crying\n", + " definition of HP:0030215 (Inappropriate crying)\n", + " \n", + " \n", + " Uncontrolled episodes of crying occur without any apparent motivating stimuli.\n", + " definition of HP:0030215 (Inappropriate crying)\n", + " \n", + " \n", + " #Cry frequently for no reason #Cry frequently without apparent cause #Cry frequently without cause #Cry frequently without reason #Frequently cries for no reason #Frequently cries without apparent cause #Frequently cries without cause #Frequently cries without reason #Inappropriate crying\n", + " definition of HP:0030215 (Inappropriate crying)\n", + " \n", + " \n", + " Scapuloperoneal weakness\n", + " definition of HP:0003704 (Scapuloperoneal weakness)\n", + " \n", + " \n", + " #Neurogenic scapuloperoneal syndrome\n", + " definition of HP:0003704 (Scapuloperoneal weakness)\n", + " \n", + " \n", + " Absent inner eyelashes\n", + " definition of HP:0007708 (Absent inner eyelashes)\n", + " \n", + " \n", + " #Absent inner eyelashes\n", + " definition of HP:0007708 (Absent inner eyelashes)\n", + " \n", + " \n", + " Female-limited expression\n", + " definition of HP:0034344 (Female-limited expression)\n", + " \n", + " \n", + " Used to refer to a monogenic trait linked to an autosomal locus in which the phenotypic effects of allelic differences are expressed only in the female sex.\n", + " definition of HP:0034344 (Female-limited expression)\n", + " \n", + " \n", + " Bent long bone\n", + " definition of HP:0034530 (Bent long bone)\n", + " \n", + " \n", + " A developmental defect of a long bone, such as the femur or the humerus, characterized by a sharply curve deviation located in the diaphysis (shaft) of the bone.\n", + " definition of HP:0034530 (Bent long bone)\n", + " \n", + " \n", + " #Angulated long bone\n", + " definition of HP:0034530 (Bent long bone)\n", + " \n", + " \n", + " Involutional entropion\n", + " definition of HP:0031736 (Involutional entropion)\n", + " \n", + " \n", + " An abnormal inversion of the eyelid towards the globe resulting from inferior retractor muscle dysfunction with tissue laxity and, possibly, overriding of the preseptal orbicularis muscle over the pretarsal orbicularis muscle.\n", + " definition of HP:0031736 (Involutional entropion)\n", + " \n", + " \n", + " Apneic episodes in infancy\n", + " definition of HP:0005949 (Apneic episodes in infancy)\n", + " \n", + " \n", + " Recurrent episodes of apnea occurring during infancy.\n", + " definition of HP:0005949 (Apneic episodes in infancy)\n", + " \n", + " \n", + " Ameliorated by nitroglycerin\n", + " definition of HP:6000045 (Ameliorated by nitroglycerin)\n", + " \n", + " \n", + " Applies to a sign or symptom that is improved or made more bearable by treatment with nitroglycerin.\n", + " definition of HP:6000045 (Ameliorated by nitroglycerin)\n", + " \n", + " \n", + " Abnormal amyloid beta peptide CSF concentration\n", + " definition of HP:0025688 (Abnormal amyloid beta peptide CSF concentration)\n", + " \n", + " \n", + " Any anomaly in the concentration of a cleaved APP amyloid beta protein fragment in the cerebrospinal fluid.\n", + " definition of HP:0025688 (Abnormal amyloid beta peptide CSF concentration)\n", + " \n", + " \n", + " Monoclonal elevation of IgG\n", + " definition of HP:0032290 (Monoclonal elevation of IgG)\n", + " \n", + " \n", + " An increase in circulating immunoglobulins characterized by a single band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.\n", + " definition of HP:0032290 (Monoclonal elevation of IgG)\n", + " \n", + " \n", + " Abnormal CSF pterin concentration\n", + " definition of HP:0040207 (Abnormal CSF pterin concentration)\n", + " \n", + " \n", + " Abnormal concentration of a pterin in the cerebrospinal fluid (CSF).\n", + " definition of HP:0040207 (Abnormal CSF pterin concentration)\n", + " \n", + " \n", + " #Abnormal cerebrospinal fluid biopterin level #Abnormal CSF biopterin level\n", + " definition of HP:0040207 (Abnormal CSF pterin concentration)\n", + " \n", + " \n", + " Abnormality of genioglossus muscle\n", + " definition of HP:3000045 (Abnormality of genioglossus muscle)\n", + " \n", + " \n", + " An abnormality of a genioglossus muscle.\n", + " definition of HP:3000045 (Abnormality of genioglossus muscle)\n", + " \n", + " \n", + " Primary Caesarian section\n", + " definition of HP:0030363 (Primary Caesarian section)\n", + " \n", + " \n", + " Delivery by Caesarian section representing the first time the mother has delivered by Caesarian section.\n", + " definition of HP:0030363 (Primary Caesarian section)\n", + " \n", + " \n", + " Ameliorated by vitamin B12\n", + " definition of HP:0034537 (Ameliorated by vitamin B12)\n", + " \n", + " \n", + " Applies to a sign or symptom that is improved or made more bearable by treatment with vitamin B12.\n", + " definition of HP:0034537 (Ameliorated by vitamin B12)\n", + " \n", + " \n", + " #Vitamin B12 treatment produces improvement\n", + " definition of HP:0034537 (Ameliorated by vitamin B12)\n", + " \n", + " \n", + " Abnormal basophil count\n", + " definition of HP:0031806 (Abnormal basophil count)\n", + " \n", + " \n", + " Any deviation from the normal number of basophils per volume in the blood circulation.\n", + " definition of HP:0031806 (Abnormal basophil count)\n", + " \n", + " \n", + " Elevated sweat chloride\n", + " definition of HP:0012236 (Elevated sweat chloride)\n", + " \n", + " \n", + " An increased concentration of chloride in the sweat.\n", + " definition of HP:0012236 (Elevated sweat chloride)\n", + " \n", + " \n", + " #Elevated sweat chloride #Elevated sweat Cl #Elevated sweat Cl-\n", + " definition of HP:0012236 (Elevated sweat chloride)\n", + " \n", + " \n", + " Fetal head anomaly\n", + " definition of HP:0034245 (Fetal head anomaly)\n", + " \n", + " \n", + " Patchy sclerosis of the 1st metatarsal\n", + " definition of HP:0010072 (Patchy sclerosis of the 1st metatarsal)\n", + " \n", + " \n", + " #Uneven increase in bone density of the 1st long bone of foot\n", + " definition of HP:0010072 (Patchy sclerosis of the 1st metatarsal)\n", + " \n", + " \n", + " Tessier number 8 facial cleft\n", + " definition of HP:0031580 (Tessier number 8 facial cleft)\n", + " \n", + " \n", + " The frontozygomatic or Number 8 cleft is found in both Treacher Collins syndrome and the Goldenhar variant of hemifacial microsomia. Skeletal defects are more prominent in Treacher Collins syndrome, whereas the soft tissue clefting is more typical in cases of ''Goldenhar syndrome''. Soft tissue clefting presents as a dermatocele, a true lateral eyelid coloboma with absence of the outer canthus, and anomalies of the globe itself, especially epibulbar cysts in patients with Goldenhar syndrome. The frontozygomatic bony cleft produces absence of the lateral orbital rim; this border now is formed by the hypoplastic greater wing of the sphenoid. The absence of bony support for the outer canthus produces lateral canthal dystopia and the characteristic antimongoloid slant of the palpebral fissures. Secondary to the bony deficiency in the lateral orbital wall and floor, there is soft tissue continuity between the orbit, temporal fossa, and infratemporal region. Preauricular hairline indicators delineate the Number 8 cleft as the first of the northbound clefts. Complete absence of the bony lateral orbital wall and rim constitute the skeletal element of the Number 8 cleft. The lateral border of the orbit is formed by the greater wing of the sphenoid from which small spicules of bone, which represent the rudimentary zygoma, may be found in Treacher Collins syndrome. The symmetry of the facial anomalies is reflected in the apparently normal symmetric anterior and middle cranial fossae.\n", + " definition of HP:0031580 (Tessier number 8 facial cleft)\n", + " \n", + " \n", + " #Tessier facial cleft number 8\n", + " definition of HP:0031580 (Tessier number 8 facial cleft)\n", + " \n", + " \n", + " Fetal methamphetamine exposure\n", + " definition of HP:6000990 (Fetal methamphetamine exposure)\n", + " \n", + " \n", + " A history of exposure during pregnancy (including during the period of conception) of the mother of a fetus or child to methamphetamine.\n", + " definition of HP:6000990 (Fetal methamphetamine exposure)\n", + " \n", + " \n", + " #Antenatal methamphetamine exposure #Antenatal methamphetamine use #Fetal meth exposure #Methamphetamine use during pregnancy #Prenatal methamphetamine exposure #Prenatal methamphetamine use\n", + " definition of HP:6000990 (Fetal methamphetamine exposure)\n", + " \n", + " \n", + " Rotated maxillary central incisors\n", + " definition of HP:0006330 (Rotated maxillary central incisors)\n", + " \n", + " \n", + " #Rotated upper central incisors #Rotated upper front teeth #Turned upper front teeth #Twisted upper front teeth\n", + " definition of HP:0006330 (Rotated maxillary central incisors)\n", + " \n", + " \n", + " Prominent frontal sinuses\n", + " definition of HP:0005478 (Prominent frontal sinuses)\n", + " \n", + " \n", + " #Large frontal sinus\n", + " definition of HP:0005478 (Prominent frontal sinuses)\n", + " \n", + " \n", + " Hepatic infarction\n", + " definition of HP:0033135 (Hepatic infarction)\n", + " \n", + " \n", + " Hepatic infarction is defined as areas of coagulative necrosis from hepatocyte cell death caused by local ischemia. Liver infarctions appear as hypoechoic nonvascular regions on conventional and Doppler sonography.\n", + " definition of HP:0033135 (Hepatic infarction)\n", + " \n", + " \n", + " Middle age onset\n", + " definition of HP:0003596 (Middle age onset)\n", + " \n", + " \n", + " A type of adult onset with onset of symptoms at the age of 40 to 60 years.\n", + " definition of HP:0003596 (Middle age onset)\n", + " \n", + " \n", + " Enthesitis\n", + " definition of HP:0100686 (Enthesitis)\n", + " \n", + " \n", + " #Inflammation of sharpey fibers #Inflammation of sharpey fibres\n", + " definition of HP:0100686 (Enthesitis)\n", + " \n", + " \n", + " Fractured ankle\n", + " definition of HP:0041153 (Fractured ankle)\n", + " \n", + " \n", + " A fracture or multiple fractures of one or more of three bones in the ankle joint: the tibia (shinbone), the fibula (outer ankle bone), and the talus (which is the bone that connects your leg to your foot).\n", + " definition of HP:0041153 (Fractured ankle)\n", + " \n", + " \n", + " #Ankle fracture\n", + " definition of HP:0041153 (Fractured ankle)\n", + " \n", + " \n", + " Macular flecks\n", + " definition of HP:0011507 (Macular flecks)\n", + " \n", + " \n", + " Pale often indistinct lesions of the macula.\n", + " definition of HP:0011507 (Macular flecks)\n", + " \n", + " \n", + " Absent neutrophil lactoferrin\n", + " definition of HP:0041042 (Absent neutrophil lactoferrin)\n", + " \n", + " \n", + " The absence of lactoferrin in neutrophil granules, which could be caused by either an isolated failure of synthesis of this protein (or the production of an antigenically unrecognizable form of lactoferrin) or a complete deficiency of specific granule production.\n", + " definition of HP:0041042 (Absent neutrophil lactoferrin)\n", + " \n", + " \n", + " Phalangeal dislocation\n", + " definition of HP:0006243 (Phalangeal dislocation)\n", + " \n", + " \n", + " Weak cry\n", + " definition of HP:0001612 (Weak cry)\n", + " \n", + " \n", + " Abnormal cerebral ventricle morphology\n", + " definition of HP:0002118 (Abnormal cerebral ventricle morphology)\n", + " \n", + " \n", + " Any structural abnormality of the cerebral ventricles.\n", + " definition of HP:0002118 (Abnormal cerebral ventricle morphology)\n", + " \n", + " \n", + " #Abnormality of the cerebral ventricles\n", + " definition of HP:0002118 (Abnormal cerebral ventricle morphology)\n", + " \n", + " \n", + " Renal tubular basement membrane denudation\n", + " definition of HP:0032594 (Renal tubular basement membrane denudation)\n", + " \n", + " \n", + " Naked basement membranes without tubular epithelium.\n", + " definition of HP:0032594 (Renal tubular basement membrane denudation)\n", + " \n", + " \n", + " #Denuded tubular basement membrane\n", + " definition of HP:0032594 (Renal tubular basement membrane denudation)\n", + " \n", + " \n", + " Abnormal circulating beta-C-terminal telopeptide concentration\n", + " definition of HP:0031424 (Abnormal circulating beta-C-terminal telopeptide concentration)\n", + " \n", + " \n", + " A deviation from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation, a marker of the rate of bone turnover.\n", + " definition of HP:0031424 (Abnormal circulating beta-C-terminal telopeptide concentration)\n", + " \n", + " \n", + " #Abnormal circulating beta-C-terminal telopeptide level #Abnormal circulating beta-CrossLaps level #Abnormal circulating beta-CTx level\n", + " definition of HP:0031424 (Abnormal circulating beta-C-terminal telopeptide concentration)\n", + " \n", + " \n", + " Ameliorated by colchicine\n", + " definition of HP:4000130 (Ameliorated by colchicine)\n", + " \n", + " \n", + " Applies to a sign or symptom that is improved or made more bearable by administration of colchizine.\n", + " definition of HP:4000130 (Ameliorated by colchicine)\n", + " \n", + " \n", + " #Colchicine ameliorates symptoms\n", + " definition of HP:4000130 (Ameliorated by colchicine)\n", + " \n", + " \n", + " Decreased circulating apolipoprotein A-I concentration\n", + " definition of HP:0031799 (Decreased circulating apolipoprotein A-I concentration)\n", + " \n", + " \n", + " Concentration of apolipoprotein A-I below the lower limit of normal. Apolipoprotein A-I is the major protein component of high density lipoprotein (HDL) in plasma. Defects in this gene are associated with HDL deficiencies, including Tangier disease.\n", + " definition of HP:0031799 (Decreased circulating apolipoprotein A-I concentration)\n", + " \n", + " \n", + " #Decreased apo-AI level #Decreased apoA-I level #Decreased apolipoprotein AI level\n", + " definition of HP:0031799 (Decreased circulating apolipoprotein A-I concentration)\n", + " \n", + " \n", + " Laryngeal carcinoma\n", + " definition of HP:0012118 (Laryngeal carcinoma)\n", + " \n", + " \n", + " A carcinoma of the larynx.\n", + " definition of HP:0012118 (Laryngeal carcinoma)\n", + " \n", + " \n", + " #Cancer of the larynx #Laryngeal cancer\n", + " definition of HP:0012118 (Laryngeal carcinoma)\n", + " \n", + " \n", + " Pectus excavatum of inferior sternum\n", + " definition of HP:0000915 (Pectus excavatum of inferior sternum)\n", + " \n", + " \n", + " Pectus excavatum (defect of the chest wall characterized by depression of the sternum) affecting primarily the inferior region of the sternum.\n", + " definition of HP:0000915 (Pectus excavatum of inferior sternum)\n", + " \n", + " \n", + " #Pectus excavatum inferiorly\n", + " definition of HP:0000915 (Pectus excavatum of inferior sternum)\n", + " \n", + " \n", + " Focal impaired awareness emotional seizure with pleasure\n", + " definition of HP:0032747 (Focal impaired awareness emotional seizure with pleasure)\n", + " \n", + " \n", + " Focal emotional seizure with pleasure in which awareness is partially or fully impaired at some point during the seizure.\n", + " definition of HP:0032747 (Focal impaired awareness emotional seizure with pleasure)\n", + " \n", + " \n", + " Short esophagus\n", + " definition of HP:6000382 (Short esophagus)\n", + " \n", + " \n", + " Abnormal reduction in the length of the esophagus.\n", + " definition of HP:6000382 (Short esophagus)\n", + " \n", + " \n", + " Laryngeal hypoplasia\n", + " definition of HP:0008749 (Laryngeal hypoplasia)\n", + " \n", + " \n", + " Underdevelopment of the larynx.\n", + " definition of HP:0008749 (Laryngeal hypoplasia)\n", + " \n", + " \n", + " #Hypoplastic larynx\n", + " definition of HP:0008749 (Laryngeal hypoplasia)\n", + " \n", + " \n", + " Increased serum bile acid concentration during pregnancy\n", + " definition of HP:0200150 (Increased serum bile acid concentration during pregnancy)\n", + " \n", + " \n", + " Progressive truncal ataxia\n", + " definition of HP:0007221 (Progressive truncal ataxia)\n", + " \n", + " \n", + " Abnormal cerumen color\n", + " definition of HP:0030790 (Abnormal cerumen color)\n", + " \n", + " \n", + " An anomalous earwax color. Earwax (cerumen) is usually light to dark brown or orange in color.\n", + " definition of HP:0030790 (Abnormal cerumen color)\n", + " \n", + " \n", + " #Abnormal cerumen color #Abnormal cerumen pigmentation\n", + " definition of HP:0030790 (Abnormal cerumen color)\n", + " \n", + " \n", + " Patchy atrophy of the retinal pigment epithelium\n", + " definition of HP:0007791 (Patchy atrophy of the retinal pigment epithelium)\n", + " \n", + " \n", + " Wasting (atrophy) of the retinal pigment epithelium present in small, isolated areas.\n", + " definition of HP:0007791 (Patchy atrophy of the retinal pigment epithelium)\n", + " \n", + " \n", + " Hypoplasia of mandible relative to maxilla\n", + " definition of HP:0410219 (Hypoplasia of mandible relative to maxilla)\n", + " \n", + " \n", + " Abnormally small dimension of the mandible (lower jaw) relative to the maxilla (upper jaw).\n", + " definition of HP:0410219 (Hypoplasia of mandible relative to maxilla)\n", + " \n", + " \n", + " #Disorder of mandibular and maxillary dental arch relationship\n", + " definition of HP:0410219 (Hypoplasia of mandible relative to maxilla)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the brainstem\n", + " definition of HP:0007362 (Aplasia/Hypoplasia of the brainstem)\n", + " \n", + " \n", + " #Absent/small brainstem #Absent/underdeveloped brainstem\n", + " definition of HP:0007362 (Aplasia/Hypoplasia of the brainstem)\n", + " \n", + " \n", + " Narrow palpebral fissure\n", + " definition of HP:0045025 (Narrow palpebral fissure)\n", + " \n", + " \n", + " Reduction in the vertical distance between the upper and lower eyelids.\n", + " definition of HP:0045025 (Narrow palpebral fissure)\n", + " \n", + " \n", + " #Narrow palpebral fissures #Small opening between the eyelids #Small palpebral fissures\n", + " definition of HP:0045025 (Narrow palpebral fissure)\n", + " \n", + " \n", + " Partial absence of foot\n", + " definition of HP:0030032 (Partial absence of foot)\n", + " \n", + " \n", + " An incomplete absence of the foot, with no bony elements distal to the tarsals, but with preservation of some or all of the tarsals.\n", + " definition of HP:0030032 (Partial absence of foot)\n", + " \n", + " \n", + " #Partial absence of foot\n", + " definition of HP:0030032 (Partial absence of foot)\n", + " \n", + " \n", + " Multifocal seizures\n", + " definition of HP:0031165 (Multifocal seizures)\n", + " \n", + " \n", + " Seizures that start from several different areas of the brain (i.e., with multiple ictal onset locations).\n", + " definition of HP:0031165 (Multifocal seizures)\n", + " \n", + " \n", + " #Multifocal onset seizures\n", + " definition of HP:0031165 (Multifocal seizures)\n", + " \n", + " \n", + " Dark cerumen\n", + " definition of HP:6000025 (Dark cerumen)\n", + " \n", + " \n", + " Abnormally dark color of cerumen (earwax), which is a waxy substance secreted in the ear canal that normally has a brown, orange, red, yellowish or gray.\n", + " definition of HP:6000025 (Dark cerumen)\n", + " \n", + " \n", + " #Dark earwax #Pigmented cerumen\n", + " definition of HP:6000025 (Dark cerumen)\n", + " \n", + " \n", + " Abnormal middle phalanx morphology of the hand\n", + " definition of HP:0009833 (Abnormal middle phalanx morphology of the hand)\n", + " \n", + " \n", + " An anomaly of middle phalanx of finger.\n", + " definition of HP:0009833 (Abnormal middle phalanx morphology of the hand)\n", + " \n", + " \n", + " #Abnormality of the middle finger bones of the hand #Abnormality of the middle phalanges of the hand\n", + " definition of HP:0009833 (Abnormal middle phalanx morphology of the hand)\n", + " \n", + " \n", + " Increased hepatitis A virus antibody level\n", + " definition of HP:0410367 (Increased hepatitis A virus antibody level)\n", + " \n", + " \n", + " An abnormally increased level of immunoglobulin against hepatitis A virus in the blood.\n", + " definition of HP:0410367 (Increased hepatitis A virus antibody level)\n", + " \n", + " \n", + " Elevated urine 3,6-epoxydicarboxylic acid level\n", + " definition of HP:0034960 (Elevated urine 3,6-epoxydicarboxylic acid level)\n", + " \n", + " \n", + " The concentration of 3,6-epoxydicarboxylic acid in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:0034960 (Elevated urine 3,6-epoxydicarboxylic acid level)\n", + " \n", + " \n", + " Anti-p53 antibody positivity\n", + " definition of HP:0034107 (Anti-p53 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against p53.\n", + " definition of HP:0034107 (Anti-p53 antibody positivity)\n", + " \n", + " \n", + " Positive respiratory tract infectious agent test\n", + " definition of HP:0430151 (Positive respiratory tract infectious agent test)\n", + " \n", + " \n", + " Any kind of test for an infectious agent in the respiratory tract positive.\n", + " definition of HP:0430151 (Positive respiratory tract infectious agent test)\n", + " \n", + " \n", + " Fractured middle phalanx of manus\n", + " definition of HP:0041236 (Fractured middle phalanx of manus)\n", + " \n", + " \n", + " A partial or complete breakage of the middle phalanx of manus.\n", + " definition of HP:0041236 (Fractured middle phalanx of manus)\n", + " \n", + " \n", + " #bone middle phalanx of manus\n", + " definition of HP:0041236 (Fractured middle phalanx of manus)\n", + " \n", + " \n", + " Increased urinary hexanoic acid level\n", + " definition of HP:0034497 (Increased urinary hexanoic acid level)\n", + " \n", + " \n", + " The concentration of hexanoic acid in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:0034497 (Increased urinary hexanoic acid level)\n", + " \n", + " \n", + " Shock\n", + " definition of HP:0031273 (Shock)\n", + " \n", + " \n", + " The state in which profound and widespread reduction of effective tissue perfusion leads first to reversible, and then if prolonged, to irreversible cellular injury.\n", + " definition of HP:0031273 (Shock)\n", + " \n", + " \n", + " Abnormal EKG\n", + " definition of HP:0003115 (Abnormal EKG)\n", + " \n", + " \n", + " Abnormal rhythm of the heart.\n", + " definition of HP:0003115 (Abnormal EKG)\n", + " \n", + " \n", + " #Abnormal ECG #Abnormal EKG #Abnormal electrocardiogram #EKG abnormality\n", + " definition of HP:0003115 (Abnormal EKG)\n", + " \n", + " \n", + " Periventricular leukomalacia\n", + " definition of HP:0006970 (Periventricular leukomalacia)\n", + " \n", + " \n", + " Periventricular leukomalacia is characterized by diffuse injury of deep cerebral white matter, accompanied in its most severe form by focal necrosis. The neuropathologic hallmarks of PVL are microglial activation and focal and diffuse periventricular depletion of premyelinating oligodendroglia.\n", + " definition of HP:0006970 (Periventricular leukomalacia)\n", + " \n", + " \n", + " #PVL\n", + " definition of HP:0006970 (Periventricular leukomalacia)\n", + " \n", + " \n", + " Excessive interest in others\n", + " definition of HP:5200003 (Excessive interest in others)\n", + " \n", + " \n", + " A strong desire to interact and engage with others that is perceived to be inappropriate or excessive in the context of cultural norms.\n", + " definition of HP:5200003 (Excessive interest in others)\n", + " \n", + " \n", + " Decreased cervical spine mobility\n", + " definition of HP:0004637 (Decreased cervical spine mobility)\n", + " \n", + " \n", + " #Limited neck movement\n", + " definition of HP:0004637 (Decreased cervical spine mobility)\n", + " \n", + " \n", + " Testicular neoplasm\n", + " definition of HP:0010788 (Testicular neoplasm)\n", + " \n", + " \n", + " The presence of a neoplasm of the testis.\n", + " definition of HP:0010788 (Testicular neoplasm)\n", + " \n", + " \n", + " #Testicular tumor #Testicular tumour\n", + " definition of HP:0010788 (Testicular neoplasm)\n", + " \n", + " \n", + " Prominent supraorbital arches in adult\n", + " definition of HP:0004676 (Prominent supraorbital arches in adult)\n", + " \n", + " \n", + " Chronic absent circulating total IgG\n", + " definition of HP:0033025 (Chronic absent circulating total IgG)\n", + " \n", + " \n", + " A lasting absence of immunoglobulin G (IgG) in the blood, whereby at most trace quantities of IgG can be measured.\n", + " definition of HP:0033025 (Chronic absent circulating total IgG)\n", + " \n", + " \n", + " #Chronic (near) absent total IgG in blood\n", + " definition of HP:0033025 (Chronic absent circulating total IgG)\n", + " \n", + " \n", + " Abnormal platelet ATP dense granule secretion\n", + " definition of HP:0030398 (Abnormal platelet ATP dense granule secretion)\n", + " \n", + " \n", + " Abnormal secretion of the platelet dense-granule content adenosine triphosphate (ATP).\n", + " definition of HP:0030398 (Abnormal platelet ATP dense granule secretion)\n", + " \n", + " \n", + " Panhypogammaglobulinemia\n", + " definition of HP:0003139 (Panhypogammaglobulinemia)\n", + " \n", + " \n", + " A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes.\n", + " definition of HP:0003139 (Panhypogammaglobulinemia)\n", + " \n", + " \n", + " #Panhypogammaglobulinaemia #Panypogammaglobulinemia\n", + " definition of HP:0003139 (Panhypogammaglobulinemia)\n", + " \n", + " \n", + " Abnormality of metabolism/homeostasis\n", + " definition of HP:0001939 (Abnormality of metabolism/homeostasis)\n", + " \n", + " \n", + " #Laboratory abnormality #Metabolism abnormality\n", + " definition of HP:0001939 (Abnormality of metabolism/homeostasis)\n", + " \n", + " \n", + " Long penis\n", + " definition of HP:0000040 (Long penis)\n", + " \n", + " \n", + " Penile length more than 2 SD above the mean for age.\n", + " definition of HP:0000040 (Long penis)\n", + " \n", + " \n", + " #Enlarged penis #Long penis\n", + " definition of HP:0000040 (Long penis)\n", + " \n", + " \n", + " Congenital sensorineural hearing impairment\n", + " definition of HP:0008527 (Congenital sensorineural hearing impairment)\n", + " \n", + " \n", + " A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset.\n", + " definition of HP:0008527 (Congenital sensorineural hearing impairment)\n", + " \n", + " \n", + " #Bilateral congenital sensorineural deafness #Congenital neurosensory deafness #Congenital perceptive deafness #Congenital sensorineural deafness #Congenital sensorineural hearing loss #Hearing loss, congenital sensorineural\n", + " definition of HP:0008527 (Congenital sensorineural hearing impairment)\n", + " \n", + " \n", + " Malabsorption\n", + " definition of HP:0002024 (Malabsorption)\n", + " \n", + " \n", + " Impaired ability to absorb one or more nutrients from the intestine.\n", + " definition of HP:0002024 (Malabsorption)\n", + " \n", + " \n", + " #Intestinal malabsorption #Malabsorption\n", + " definition of HP:0002024 (Malabsorption)\n", + " \n", + " \n", + " Addictive gambling behavior\n", + " definition of HP:5200334 (Addictive gambling behavior)\n", + " \n", + " \n", + " The act of taking chances or engaging in behaviors without restraint, typically involving the wagering of something valuable, in pursuit of acquiring something of higher value.\n", + " definition of HP:5200334 (Addictive gambling behavior)\n", + " \n", + " \n", + " #Gambling addiction\n", + " definition of HP:5200334 (Addictive gambling behavior)\n", + " \n", + " \n", + " Midline facial capillary hemangioma\n", + " definition of HP:0007601 (Midline facial capillary hemangioma)\n", + " \n", + " \n", + " Increased CSF isoleucine concentration\n", + " definition of HP:0500193 (Increased CSF isoleucine concentration)\n", + " \n", + " \n", + " Abnormally increased levels of isoleucine in cerebrospinal fluid.\n", + " definition of HP:0500193 (Increased CSF isoleucine concentration)\n", + " \n", + " \n", + " #High levels of isoleucine in cerebrospinal fluid\n", + " definition of HP:0500193 (Increased CSF isoleucine concentration)\n", + " \n", + " \n", + " Methioninuria\n", + " definition of HP:0032352 (Methioninuria)\n", + " \n", + " \n", + " Level of methionine in urine above the upper limit of normal.\n", + " definition of HP:0032352 (Methioninuria)\n", + " \n", + " \n", + " #Methionine high in urine\n", + " definition of HP:0032352 (Methioninuria)\n", + " \n", + " \n", + " Allergy\n", + " definition of HP:0012393 (Allergy)\n", + " \n", + " \n", + " An allergy is an immune response or reaction to substances that are usually not harmful.\n", + " definition of HP:0012393 (Allergy)\n", + " \n", + " \n", + " #Allergy\n", + " definition of HP:0012393 (Allergy)\n", + " \n", + " \n", + " Respiratory insufficiency\n", + " definition of HP:0002093 (Respiratory insufficiency)\n", + " \n", + " \n", + " #Respiratory impairment\n", + " definition of HP:0002093 (Respiratory insufficiency)\n", + " \n", + " \n", + " Kaposi's sarcoma\n", + " definition of HP:0100726 (Kaposi's sarcoma)\n", + " \n", + " \n", + " A systemic disease which can present with cutaneous lesions with or without internal involvement. Tumors are caused by Human herpesvirus 8 (HHV8), also known as Kaposi's sarcoma-associated herpesvirus (KSHV).\n", + " definition of HP:0100726 (Kaposi's sarcoma)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the phalanges of the 3rd toe\n", + " definition of HP:0010359 (Aplasia/Hypoplasia of the phalanges of the 3rd toe)\n", + " \n", + " \n", + " #Absent/small bones of 3rd toe #Absent/underdeveloped bones of 3rd toe\n", + " definition of HP:0010359 (Aplasia/Hypoplasia of the phalanges of the 3rd toe)\n", + " \n", + " \n", + " Prominent nipples\n", + " definition of HP:0004405 (Prominent nipples)\n", + " \n", + " \n", + " #Prominent nipples\n", + " definition of HP:0004405 (Prominent nipples)\n", + " \n", + " \n", + " Gangrene\n", + " definition of HP:0100758 (Gangrene)\n", + " \n", + " \n", + " A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis).\n", + " definition of HP:0100758 (Gangrene)\n", + " \n", + " \n", + " #Death of body tissue due to lack of blood flow or infection\n", + " definition of HP:0100758 (Gangrene)\n", + " \n", + " \n", + " Shoulder girdle muscle weakness\n", + " definition of HP:0003547 (Shoulder girdle muscle weakness)\n", + " \n", + " \n", + " The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders.\n", + " definition of HP:0003547 (Shoulder girdle muscle weakness)\n", + " \n", + " \n", + " #Muscle weakness, shoulder-girdle #Shoulder girdle weakness #Shoulder weakness #Weak shoulder muscles\n", + " definition of HP:0003547 (Shoulder girdle muscle weakness)\n", + " \n", + " \n", + " Spinal cord posterior columns myelin loss\n", + " definition of HP:0008311 (Spinal cord posterior columns myelin loss)\n", + " \n", + " \n", + " Rounded epiphyses\n", + " definition of HP:0006026 (Rounded epiphyses)\n", + " \n", + " \n", + " #Rounded end part of bone\n", + " definition of HP:0006026 (Rounded epiphyses)\n", + " \n", + " \n", + " Broad foot\n", + " definition of HP:0001769 (Broad foot)\n", + " \n", + " \n", + " A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length.\n", + " definition of HP:0001769 (Broad foot)\n", + " \n", + " \n", + " #Broad feet #Broad foot #Wide foot\n", + " definition of HP:0001769 (Broad foot)\n", + " \n", + " \n", + " Absent ankle pulse\n", + " definition of HP:0031271 (Absent ankle pulse)\n", + " \n", + " \n", + " The pulsation of the posterior tibial artery behind the internal malleolus, or of the dorsalis pedis artery, cannot be detected on physical examination.\n", + " definition of HP:0031271 (Absent ankle pulse)\n", + " \n", + " \n", + " Finger agnosia\n", + " definition of HP:0010525 (Finger agnosia)\n", + " \n", + " \n", + " The examiner identified the inability to name, move, or touch specific fingers.\n", + " definition of HP:0010525 (Finger agnosia)\n", + " \n", + " \n", + " EEG with spike-wave complexes (>3.5 Hz)\n", + " definition of HP:0010849 (EEG with spike-wave complexes (>3.5 Hz))\n", + " \n", + " \n", + " The presence of complexes of spikes and waves (>3.5 Hz) in electroencephalography (EEG).\n", + " definition of HP:0010849 (EEG with spike-wave complexes (>3.5 Hz))\n", + " \n", + " \n", + " Neoplasm of the stomach\n", + " definition of HP:0006753 (Neoplasm of the stomach)\n", + " \n", + " \n", + " A tumor (abnormal growth of tissue) of the stomach.\n", + " definition of HP:0006753 (Neoplasm of the stomach)\n", + " \n", + " \n", + " #Stomach tumor #Stomach tumour\n", + " definition of HP:0006753 (Neoplasm of the stomach)\n", + " \n", + " \n", + " Intestinal perforation\n", + " definition of HP:0031368 (Intestinal perforation)\n", + " \n", + " \n", + " A hole (perforation) in the wall of the intestine.\n", + " definition of HP:0031368 (Intestinal perforation)\n", + " \n", + " \n", + " Acute leukemia\n", + " definition of HP:0002488 (Acute leukemia)\n", + " \n", + " \n", + " A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts).\n", + " definition of HP:0002488 (Acute leukemia)\n", + " \n", + " \n", + " #Acute leukaemia #Acute leukemias\n", + " definition of HP:0002488 (Acute leukemia)\n", + " \n", + " \n", + " Patchy sclerosis of the proximal phalanx of the 5th finger\n", + " definition of HP:0009231 (Patchy sclerosis of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " Patchy increase in bone density of the proximal phalanx of the 5th finger.\n", + " definition of HP:0009231 (Patchy sclerosis of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " #Uneven increase in bone density in the innermost bone of little finger #Uneven increase in bone density in the innermost bone of pinkie finger #Uneven increase in bone density in the innermost bone of pinky finger\n", + " definition of HP:0009231 (Patchy sclerosis of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " Hepatic amyloidosis\n", + " definition of HP:0012280 (Hepatic amyloidosis)\n", + " \n", + " \n", + " A form of amyloidosis that affects the liver.\n", + " definition of HP:0012280 (Hepatic amyloidosis)\n", + " \n", + " \n", + " Right ventricular regional dyskinesia\n", + " definition of HP:6000666 (Right ventricular regional dyskinesia)\n", + " \n", + " \n", + " A region of the right ventricle exhibits abnormal contraction (dyskinesia) compared to the rest of the ventricle, leading to outward bulging or ballooning during contraction or inadequate inward movement.\n", + " definition of HP:6000666 (Right ventricular regional dyskinesia)\n", + " \n", + " \n", + " Triangular epiphysis of the 1st metatarsal\n", + " definition of HP:0010159 (Triangular epiphysis of the 1st metatarsal)\n", + " \n", + " \n", + " #Triangular end part of the 1st long bone of foot\n", + " definition of HP:0010159 (Triangular epiphysis of the 1st metatarsal)\n", + " \n", + " \n", + " Prominent lesser trochanter\n", + " definition of HP:6000816 (Prominent lesser trochanter)\n", + " \n", + " \n", + " Abnormally large lesser trochanter.\n", + " definition of HP:6000816 (Prominent lesser trochanter)\n", + " \n", + " \n", + " Paraparesis\n", + " definition of HP:0002385 (Paraparesis)\n", + " \n", + " \n", + " Weakness or partial paralysis in the lower limbs.\n", + " definition of HP:0002385 (Paraparesis)\n", + " \n", + " \n", + " #Partial paralysis of legs\n", + " definition of HP:0002385 (Paraparesis)\n", + " \n", + " \n", + " Vitreomacular traction\n", + " definition of HP:0031151 (Vitreomacular traction)\n", + " \n", + " \n", + " Vitreomacular traction is characterized by anomalous posterior vitreous detachment accompanied by anatomic distortion of the fovea, which may include pseudocysts, macular schisis, cystoid macular edema, and subretinal fluid. Vitreomacular traction can be subclassified by the diameter of vitreous attachment to the macular surface as measured by OCT, with attachment of 1500 micrometers or less defined as focal and attachment of more than 1500 micrometers as broad.\n", + " definition of HP:0031151 (Vitreomacular traction)\n", + " \n", + " \n", + " #VMT\n", + " definition of HP:0031151 (Vitreomacular traction)\n", + " \n", + " \n", + " Anti-lymphocytic choriomeningitis antibody positivity\n", + " definition of HP:0430084 (Anti-lymphocytic choriomeningitis antibody positivity)\n", + " \n", + " \n", + " The presence of antibodies in the blood circulation that react against a component of lymphocytic choriomeningitis virus (LCMV).\n", + " definition of HP:0430084 (Anti-lymphocytic choriomeningitis antibody positivity)\n", + " \n", + " \n", + " #Lymphocytic choriomeningitis virus antibody titer high in blood\n", + " definition of HP:0430084 (Anti-lymphocytic choriomeningitis antibody positivity)\n", + " \n", + " \n", + " Anti-factor VIII antibody positivity\n", + " definition of HP:6000494 (Anti-factor VIII antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against factor VIII.\n", + " definition of HP:6000494 (Anti-factor VIII antibody positivity)\n", + " \n", + " \n", + " #Anti-FVIII antibody positivity\n", + " definition of HP:6000494 (Anti-factor VIII antibody positivity)\n", + " \n", + " \n", + " Decreased circulating IgG4 concentration\n", + " definition of HP:0032138 (Decreased circulating IgG4 concentration)\n", + " \n", + " \n", + " A reduction in immunoglobulin levels of the IgG4 subclass in the blood circulation.\n", + " definition of HP:0032138 (Decreased circulating IgG4 concentration)\n", + " \n", + " \n", + " #Decreased circulating IgG4 level #Decreased IgG4 level in blood\n", + " definition of HP:0032138 (Decreased circulating IgG4 concentration)\n", + " \n", + " \n", + " Ivory epiphysis of the middle phalanx of the 2nd finger\n", + " definition of HP:0009519 (Ivory epiphysis of the middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Increased bone density of end part of the middle bone of the index finger\n", + " definition of HP:0009519 (Ivory epiphysis of the middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " Small hypothenar eminence\n", + " definition of HP:0010487 (Small hypothenar eminence)\n", + " \n", + " \n", + " Reduced muscle mass on the ulnar side of the palm, that is, reduction in size of the hypothenar eminence.\n", + " definition of HP:0010487 (Small hypothenar eminence)\n", + " \n", + " \n", + " #Hypoplasia of the hypothenar eminence #Hypothenar hypoplasia\n", + " definition of HP:0010487 (Small hypothenar eminence)\n", + " \n", + " \n", + " Intestinal inflammation\n", + " definition of HP:4000055 (Intestinal inflammation)\n", + " \n", + " \n", + " A reaction characterizeds by capillary dilatation, leukocytic infiltration, redness, heat, pain, swelling localized to the in the intestinal tract.\n", + " definition of HP:4000055 (Intestinal inflammation)\n", + " \n", + " \n", + " Abnormal pancreas morphology\n", + " definition of HP:0012090 (Abnormal pancreas morphology)\n", + " \n", + " \n", + " #Abnormality of pancreas morphology #Abnormally shaped pancreas\n", + " definition of HP:0012090 (Abnormal pancreas morphology)\n", + " \n", + " \n", + " Elevated circulating methylsuccinic acid concentration\n", + " definition of HP:0033146 (Elevated circulating methylsuccinic acid concentration)\n", + " \n", + " \n", + " Increased concentration of methylsuccinic acid in the blood circulation.\n", + " definition of HP:0033146 (Elevated circulating methylsuccinic acid concentration)\n", + " \n", + " \n", + " Central adrenal insufficiency\n", + " definition of HP:0011734 (Central adrenal insufficiency)\n", + " \n", + " \n", + " A form of adrenal insufficiency related to a lack of ACTH, which leads to a decrease in the production of cortisol by the adrenal glands. Aldosterone production is not usually affected.\n", + " definition of HP:0011734 (Central adrenal insufficiency)\n", + " \n", + " \n", + " #Secondary adrenal insufficiency\n", + " definition of HP:0011734 (Central adrenal insufficiency)\n", + " \n", + " \n", + " Elevated tissue non-specific alkaline phosphatase\n", + " definition of HP:0010679 (Elevated tissue non-specific alkaline phosphatase)\n", + " \n", + " \n", + " An abnormally increased level of alkaline phosphatase, tissue-nonspecific isozyme in the blood.\n", + " definition of HP:0010679 (Elevated tissue non-specific alkaline phosphatase)\n", + " \n", + " \n", + " #Elevated alkaline phosphatase, liver/bone/kidney #Elevated tissue non-specific ALP\n", + " definition of HP:0010679 (Elevated tissue non-specific alkaline phosphatase)\n", + " \n", + " \n", + " Peripheral axonal atrophy\n", + " definition of HP:0003384 (Peripheral axonal atrophy)\n", + " \n", + " \n", + " Atrophic changes of axons of the peripheral nervous system.\n", + " definition of HP:0003384 (Peripheral axonal atrophy)\n", + " \n", + " \n", + " Flat capital femoral epiphysis\n", + " definition of HP:0003370 (Flat capital femoral epiphysis)\n", + " \n", + " \n", + " An abnormal flattening of the proximal epiphysis of the femur.\n", + " definition of HP:0003370 (Flat capital femoral epiphysis)\n", + " \n", + " \n", + " #Flat capital femoral epiphyses #Flat end part of innermost thighbone #Flat femoral capital epiphyses #Flat proximal femoral epiphyses #Flattened proximal femoral epiphyses\n", + " definition of HP:0003370 (Flat capital femoral epiphysis)\n", + " \n", + " \n", + " Intratubular calcium oxalate casts\n", + " definition of HP:0032959 (Intratubular calcium oxalate casts)\n", + " \n", + " \n", + " Birefringent calcium- and oxalate-containing casts located within the tubuli of the kidney.\n", + " definition of HP:0032959 (Intratubular calcium oxalate casts)\n", + " \n", + " \n", + " Angulated forearm bones\n", + " definition of HP:0003954 (Angulated forearm bones)\n", + " \n", + " \n", + " #Angulated forearm bones\n", + " definition of HP:0003954 (Angulated forearm bones)\n", + " \n", + " \n", + " Bifid tragus\n", + " definition of HP:0011269 (Bifid tragus)\n", + " \n", + " \n", + " Increased height of the tragal ridge with a shallow indentation at the apex, giving the appearance of a double peak.\n", + " definition of HP:0011269 (Bifid tragus)\n", + " \n", + " \n", + " #Notched tragus #Tragus, bifid\n", + " definition of HP:0011269 (Bifid tragus)\n", + " \n", + " \n", + " Double inlet left ventricle\n", + " definition of HP:0011555 (Double inlet left ventricle)\n", + " \n", + " \n", + " The condition in which both atria are joined to the left ventricle each by its own atrioventricular valve. Usually there is a hypoplastic right ventricle, which may be on the opposite side of the heart as usual.\n", + " definition of HP:0011555 (Double inlet left ventricle)\n", + " \n", + " \n", + " Broad tibial metaphyses\n", + " definition of HP:0006413 (Broad tibial metaphyses)\n", + " \n", + " \n", + " #Broad wide portion of shankbone #Broad wide portion of shinbone\n", + " definition of HP:0006413 (Broad tibial metaphyses)\n", + " \n", + " \n", + " Myocardial multinucleated giant cells\n", + " definition of HP:0031324 (Myocardial multinucleated giant cells)\n", + " \n", + " \n", + " The presence of extremely large cells with multiple nuclei. The so-called giant cells are thought to be of macrophage origin.\n", + " definition of HP:0031324 (Myocardial multinucleated giant cells)\n", + " \n", + " \n", + " Supraventricular tachycardia with a concealed accessory pathway on the right free wall\n", + " definition of HP:0011692 (Supraventricular tachycardia with a concealed accessory pathway on the right free wall)\n", + " \n", + " \n", + " Decreased circulating ACTH concentration\n", + " definition of HP:0002920 (Decreased circulating ACTH concentration)\n", + " \n", + " \n", + " The concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), is below the lower limit of normal in the blood circulation.\n", + " definition of HP:0002920 (Decreased circulating ACTH concentration)\n", + " \n", + " \n", + " Triangular shaped proximal phalanx of the 3rd finger\n", + " definition of HP:0009456 (Triangular shaped proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Triangular shaped proximal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.\n", + " definition of HP:0009456 (Triangular shaped proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Triangular shaped innermost bone of middle finger\n", + " definition of HP:0009456 (Triangular shaped proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Solar urticaria\n", + " definition of HP:0410137 (Solar urticaria)\n", + " \n", + " \n", + " Urticaria in response to exposure to ultraviolet-A (UVA), ultraviolet-B (UVB), visible and rarely infrared light.\n", + " definition of HP:0410137 (Solar urticaria)\n", + " \n", + " \n", + " Absent hair\n", + " definition of HP:0002298 (Absent hair)\n", + " \n", + " \n", + " #Absent hair\n", + " definition of HP:0002298 (Absent hair)\n", + " \n", + " \n", + " Tonofilament clumping\n", + " definition of HP:0034067 (Tonofilament clumping)\n", + " \n", + " \n", + " Formation of lumps of tonofilaments, which are bundles of keratin filaments. In some but not all epithelia, keratin filaments are conspicuously bundled as tonofilaments. Inside the cell they braid the nucleus, span through the cytoplasm and are attached to the cytoplasmic plaques of the typical epithelial cell-cell junctions, the desmosomes.\n", + " definition of HP:0034067 (Tonofilament clumping)\n", + " \n", + " \n", + " #Clumping of the keratin tonofilaments\n", + " definition of HP:0034067 (Tonofilament clumping)\n", + " \n", + " \n", + " Nipple thickening\n", + " definition of HP:6000629 (Nipple thickening)\n", + " \n", + " \n", + " Thickening of the skin around the nipple.\n", + " definition of HP:6000629 (Nipple thickening)\n", + " \n", + " \n", + " Cone-shaped metacarpal epiphyses\n", + " definition of HP:0006059 (Cone-shaped metacarpal epiphyses)\n", + " \n", + " \n", + " A cone-shaped appearance of the epiphyses of the metacarpal bones, producing a 'ball-in-a-socket' appearance. This epiphyses are located at the distal ends of the metacarpal bones.\n", + " definition of HP:0006059 (Cone-shaped metacarpal epiphyses)\n", + " \n", + " \n", + " #Cone-shaped end part of long bone\n", + " definition of HP:0006059 (Cone-shaped metacarpal epiphyses)\n", + " \n", + " \n", + " Diminished integration of verbal and non-verbal communicative behavior\n", + " definition of HP:5200030 (Diminished integration of verbal and non-verbal communicative behavior)\n", + " \n", + " \n", + " A communicative abnormality where one's nonverbal and verbal communication are poorly integrated. This may occur when verbal and nonverbal communication are intact alone but are abnormal when used together, or an abnormality in the use of typically integrated communication such as the use of beat gestures during speech.\n", + " definition of HP:5200030 (Diminished integration of verbal and non-verbal communicative behavior)\n", + " \n", + " \n", + " Increased incisura length\n", + " definition of HP:0031229 (Increased incisura length)\n", + " \n", + " \n", + " The length of the incisura from the upper to lower border is greater than that observed in the average population.\n", + " definition of HP:0031229 (Increased incisura length)\n", + " \n", + " \n", + " Abnormal nasal morphology\n", + " definition of HP:0005105 (Abnormal nasal morphology)\n", + " \n", + " \n", + " #Abnormal nose morphology #Abnormal of morphology of nose #Abnormal of nasal shape #Abnormal of shape of nose\n", + " definition of HP:0005105 (Abnormal nasal morphology)\n", + " \n", + " \n", + " Freckled genitalia\n", + " definition of HP:0030257 (Freckled genitalia)\n", + " \n", + " \n", + " One or more brown punctate macules on the skin of the genitalia.\n", + " definition of HP:0030257 (Freckled genitalia)\n", + " \n", + " \n", + " #Freckled genitalia #Genitalia, ephelides\n", + " definition of HP:0030257 (Freckled genitalia)\n", + " \n", + " \n", + " Cystic lesions of the pinnae\n", + " definition of HP:0010723 (Cystic lesions of the pinnae)\n", + " \n", + " \n", + " Complete duplication of the middle phalanx of the 2nd finger\n", + " definition of HP:0009952 (Complete duplication of the middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " Complete duplication of the middle phalanx of index finger.\n", + " definition of HP:0009952 (Complete duplication of the middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Complete duplication of the middle bone of the index finger\n", + " definition of HP:0009952 (Complete duplication of the middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " Glomerular basement membrane electron dense deposits\n", + " definition of HP:0033499 (Glomerular basement membrane electron dense deposits)\n", + " \n", + " \n", + " Electron-dense deposits in the lamina densa with a ribbon or a sausage structure.\n", + " definition of HP:0033499 (Glomerular basement membrane electron dense deposits)\n", + " \n", + " \n", + " Focal aware motor seizure with version\n", + " definition of HP:0032891 (Focal aware motor seizure with version)\n", + " \n", + " \n", + " A focal motor seizure with version characterized by retained awareness throughout the seizure.\n", + " definition of HP:0032891 (Focal aware motor seizure with version)\n", + " \n", + " \n", + " #Focal motor aware seizure with version\n", + " definition of HP:0032891 (Focal aware motor seizure with version)\n", + " \n", + " \n", + " Pneumocystis jirovecii pneumonia\n", + " definition of HP:0020102 (Pneumocystis jirovecii pneumonia)\n", + " \n", + " \n", + " An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific: progressive dyspnea, non-productive cough, low-grade fever, arterial partial pressure of oxygen below 65 mmHg, and chest radiographs demonstrating bilateral, interstitial shadowing.\n", + " definition of HP:0020102 (Pneumocystis jirovecii pneumonia)\n", + " \n", + " \n", + " Abnormal adrenal morphology\n", + " definition of HP:0011732 (Abnormal adrenal morphology)\n", + " \n", + " \n", + " Any structural anomaly of the adrenal glands.\n", + " definition of HP:0011732 (Abnormal adrenal morphology)\n", + " \n", + " \n", + " #Abnormality of adrenal morphology\n", + " definition of HP:0011732 (Abnormal adrenal morphology)\n", + " \n", + " \n", + " Right ventricular regional akinesia\n", + " definition of HP:6000665 (Right ventricular regional akinesia)\n", + " \n", + " \n", + " A region of the right ventricle exhibits absent contraction (akinesia) compared to the rest of the ventricle.\n", + " definition of HP:6000665 (Right ventricular regional akinesia)\n", + " \n", + " \n", + " Thoracolumbar interpediculate narrowness\n", + " definition of HP:0008484 (Thoracolumbar interpediculate narrowness)\n", + " \n", + " \n", + " A reduction of the distance between thoracolumbar vertebral pedicles.\n", + " definition of HP:0008484 (Thoracolumbar interpediculate narrowness)\n", + " \n", + " \n", + " #Narrow thoracolumbar interpediculate distance\n", + " definition of HP:0008484 (Thoracolumbar interpediculate narrowness)\n", + " \n", + " \n", + " Midface retrusion\n", + " definition of HP:0011800 (Midface retrusion)\n", + " \n", + " \n", + " Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.\n", + " definition of HP:0011800 (Midface retrusion)\n", + " \n", + " \n", + " #Decreased size of midface #Flat midface #Hypoplasia of midface #Midface deficiency #Midface hypoplasia #Midface retrusion #Midface, flat #Retrusive midface #Underdevelopment of midface\n", + " definition of HP:0011800 (Midface retrusion)\n", + " \n", + " \n", + " Socially inappropriate questioning\n", + " definition of HP:5200068 (Socially inappropriate questioning)\n", + " \n", + " \n", + " A tendency to ask questions that are overly personal or otherwise inappropriate in the social situation in which they are asked.\n", + " definition of HP:5200068 (Socially inappropriate questioning)\n", + " \n", + " \n", + " Elevated CSF neopterin level\n", + " definition of HP:0040204 (Elevated CSF neopterin level)\n", + " \n", + " \n", + " Increased concentration of neopterin in the cerebrospinal fluid (CSF).\n", + " definition of HP:0040204 (Elevated CSF neopterin level)\n", + " \n", + " \n", + " Reduced circulating creatine concentration\n", + " definition of HP:0034292 (Reduced circulating creatine concentration)\n", + " \n", + " \n", + " An reduction below the normal range of creatine in the blood circulation.\n", + " definition of HP:0034292 (Reduced circulating creatine concentration)\n", + " \n", + " \n", + " Low urinary cyclic AMP response to PTH administration\n", + " definition of HP:0003456 (Low urinary cyclic AMP response to PTH administration)\n", + " \n", + " \n", + " Sternal pit\n", + " definition of HP:0410277 (Sternal pit)\n", + " \n", + " \n", + " A sternal pit is a small indentation or dimple in the skin overlying the sternum of the chest. In some cases, the skin defect can be linear, extending several inches over the sternum.\n", + " definition of HP:0410277 (Sternal pit)\n", + " \n", + " \n", + " Phantosmia\n", + " definition of HP:0033693 (Phantosmia)\n", + " \n", + " \n", + " Perception of an odor in the absence of any stimuli in the surrounding environment that could emit the odor.\n", + " definition of HP:0033693 (Phantosmia)\n", + " \n", + " \n", + " #Phantom odor #Phantom odour #Phantom smell\n", + " definition of HP:0033693 (Phantosmia)\n", + " \n", + " \n", + " Mammary blocked duct\n", + " definition of HP:0430075 (Mammary blocked duct)\n", + " \n", + " \n", + " Blocked mammary ducts represent an area of localized milk stasis, typically associated with breast engorgement and resulting in a localized tender breast lump or area of blushed color; the breast may feel hot; and there may be a white, painful bleb on the end of the nipple.\n", + " definition of HP:0430075 (Mammary blocked duct)\n", + " \n", + " \n", + " #Galactocele #Lactation duct obstruction\n", + " definition of HP:0430075 (Mammary blocked duct)\n", + " \n", + " \n", + " Neonatal seizure\n", + " definition of HP:0032807 (Neonatal seizure)\n", + " \n", + " \n", + " A seizure occurring within the neonatal period (28 days beyond the full term date).\n", + " definition of HP:0032807 (Neonatal seizure)\n", + " \n", + " \n", + " Abnormality of the subungual region\n", + " definition of HP:0009723 (Abnormality of the subungual region)\n", + " \n", + " \n", + " A lesion located beneath a fingernail or toenail.\n", + " definition of HP:0009723 (Abnormality of the subungual region)\n", + " \n", + " \n", + " Phonic tics\n", + " definition of HP:0100035 (Phonic tics)\n", + " \n", + " \n", + " Tics are defined as movements or sounds that resemble physiological motor behaviors, but are typically inopportune to social context and appear sudden, repetitive, and often exaggerated. Tic vocalizations commonly termed vocal or phonic tics may include any possible sound (eg, sniffing, coughing, throat clearing, whistling, or grunting), word, or sentence and are most commonly encountered within the spectrum of primary tic disorders, as Tourette syndrome.\n", + " definition of HP:0100035 (Phonic tics)\n", + " \n", + " \n", + " #Verbal tics #Vocal tics\n", + " definition of HP:0100035 (Phonic tics)\n", + " \n", + " \n", + " Decreased circulating vitamin K concentration\n", + " definition of HP:0011892 (Decreased circulating vitamin K concentration)\n", + " \n", + " \n", + " The concentration of vitamin K in the blood circulation is below the lower limit of normal.\n", + " definition of HP:0011892 (Decreased circulating vitamin K concentration)\n", + " \n", + " \n", + " #Low levels of vitamin K\n", + " definition of HP:0011892 (Decreased circulating vitamin K concentration)\n", + " \n", + " \n", + " Horizontal pendular nystagmus\n", + " definition of HP:0007811 (Horizontal pendular nystagmus)\n", + " \n", + " \n", + " Nystagmus consisting of horizontal to-and-fro eye movements of equal velocity.\n", + " definition of HP:0007811 (Horizontal pendular nystagmus)\n", + " \n", + " \n", + " Postnatal cystic hygroma\n", + " definition of HP:0010879 (Postnatal cystic hygroma)\n", + " \n", + " \n", + " Multiple pterygia\n", + " definition of HP:0001040 (Multiple pterygia)\n", + " \n", + " \n", + " Diminishment of comfort with casual physical contact\n", + " definition of HP:5200221 (Diminishment of comfort with casual physical contact)\n", + " \n", + " \n", + " A reduction in the tendency of a person to accept casual physical contact with others as compared to that person's previous norm.\n", + " definition of HP:5200221 (Diminishment of comfort with casual physical contact)\n", + " \n", + " \n", + " #Discomfort with physical contact #Discomfort with physical touch #Touch avoidance\n", + " definition of HP:5200221 (Diminishment of comfort with casual physical contact)\n", + " \n", + " \n", + " Focal impaired awareness emotional seizure with agitation\n", + " definition of HP:0032753 (Focal impaired awareness emotional seizure with agitation)\n", + " \n", + " \n", + " A focal emotional seizure with agitation in which awareness is partially or fully impaired at some point during the seizure.\n", + " definition of HP:0032753 (Focal impaired awareness emotional seizure with agitation)\n", + " \n", + " \n", + " Hypermobility of toe joints\n", + " definition of HP:0010510 (Hypermobility of toe joints)\n", + " \n", + " \n", + " An ability of the toe joints to move beyond their normal range of motion.\n", + " definition of HP:0010510 (Hypermobility of toe joints)\n", + " \n", + " \n", + " Frontal cortical atrophy\n", + " definition of HP:0006913 (Frontal cortical atrophy)\n", + " \n", + " \n", + " Atrophy of the frontal cortex.\n", + " definition of HP:0006913 (Frontal cortical atrophy)\n", + " \n", + " \n", + " #Frontal cortex degeneration\n", + " definition of HP:0006913 (Frontal cortical atrophy)\n", + " \n", + " \n", + " Complete duplication of the phalanges of the 2nd toe\n", + " definition of HP:0010429 (Complete duplication of the phalanges of the 2nd toe)\n", + " \n", + " \n", + " Complete duplication of a phalanx of second toe.\n", + " definition of HP:0010429 (Complete duplication of the phalanges of the 2nd toe)\n", + " \n", + " \n", + " #Complete duplication of the 2nd toe bones\n", + " definition of HP:0010429 (Complete duplication of the phalanges of the 2nd toe)\n", + " \n", + " \n", + " Postmenopausal onset\n", + " definition of HP:6000315 (Postmenopausal onset)\n", + " \n", + " \n", + " Onset of signs or symptoms of disease during the period of a woman's life after the occurrence of the menopause.\n", + " definition of HP:6000315 (Postmenopausal onset)\n", + " \n", + " \n", + " Anterior rounding of vertebral bodies\n", + " definition of HP:0008488 (Anterior rounding of vertebral bodies)\n", + " \n", + " \n", + " Increased circulating troponin T concentration\n", + " definition of HP:0410174 (Increased circulating troponin T concentration)\n", + " \n", + " \n", + " An increased concentration of tropnin T in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction.\n", + " definition of HP:0410174 (Increased circulating troponin T concentration)\n", + " \n", + " \n", + " #Increased troponin T level in blood\n", + " definition of HP:0410174 (Increased circulating troponin T concentration)\n", + " \n", + " \n", + " Elevated urine manganese level\n", + " definition of HP:6000480 (Elevated urine manganese level)\n", + " \n", + " \n", + " The amount of manganese in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000480 (Elevated urine manganese level)\n", + " \n", + " \n", + " Eyelid fasciculation\n", + " definition of HP:0030826 (Eyelid fasciculation)\n", + " \n", + " \n", + " Tiny, repetitive muscle contractions in the eyelids, causing the appearance of twitching.\n", + " definition of HP:0030826 (Eyelid fasciculation)\n", + " \n", + " \n", + " #Eyelid fluttering #Fasciculation of the eyelid #Muscle twitches in eye lid #Muscle twitches in eyelid #Twitching around eyes\n", + " definition of HP:0030826 (Eyelid fasciculation)\n", + " \n", + " \n", + " Increased CSF lysine concentration\n", + " definition of HP:0500208 (Increased CSF lysine concentration)\n", + " \n", + " \n", + " Abnormally increased levels of lysine in cerebrospinal fluid.\n", + " definition of HP:0500208 (Increased CSF lysine concentration)\n", + " \n", + " \n", + " #High lysine levels in cerebrospinal fluid\n", + " definition of HP:0500208 (Increased CSF lysine concentration)\n", + " \n", + " \n", + " Acroparesthesia\n", + " definition of HP:0031006 (Acroparesthesia)\n", + " \n", + " \n", + " A type of paresthesia (tingling, pins-and-needles, burning or numbness or stiffness) that occurs in the hands and feet and particularly in the fingers and toes.\n", + " definition of HP:0031006 (Acroparesthesia)\n", + " \n", + " \n", + " Focal impaired awareness clonic seizure\n", + " definition of HP:0032725 (Focal impaired awareness clonic seizure)\n", + " \n", + " \n", + " A type of focal clonic seizure during which awareness is partially or fully impaired at some point in the seizure.\n", + " definition of HP:0032725 (Focal impaired awareness clonic seizure)\n", + " \n", + " \n", + " Decreased numbers of nephrons\n", + " definition of HP:0005563 (Decreased numbers of nephrons)\n", + " \n", + " \n", + " A reduction in the count of nephrons per kidney.\n", + " definition of HP:0005563 (Decreased numbers of nephrons)\n", + " \n", + " \n", + " #Oligonephronia\n", + " definition of HP:0005563 (Decreased numbers of nephrons)\n", + " \n", + " \n", + " Joint crepitus\n", + " definition of HP:0034431 (Joint crepitus)\n", + " \n", + " \n", + " A popping, clicking or crackling sound that accompaniees movement of a joint.\n", + " definition of HP:0034431 (Joint crepitus)\n", + " \n", + " \n", + " Stage 2 chronic kidney disease\n", + " definition of HP:0012624 (Stage 2 chronic kidney disease)\n", + " \n", + " \n", + " A type of chronic kidney disease with mildly reduced glomerular filtration rate (GFR 60-89 mL/min/1.73 m2).\n", + " definition of HP:0012624 (Stage 2 chronic kidney disease)\n", + " \n", + " \n", + " Broad proximal phalanx of toe\n", + " definition of HP:0010204 (Broad proximal phalanx of toe)\n", + " \n", + " \n", + " An increase in width of one ore more proximal toe phalanges.\n", + " definition of HP:0010204 (Broad proximal phalanx of toe)\n", + " \n", + " \n", + " #Broad innermost toe bone\n", + " definition of HP:0010204 (Broad proximal phalanx of toe)\n", + " \n", + " \n", + " Thin fingernail\n", + " definition of HP:0012742 (Thin fingernail)\n", + " \n", + " \n", + " Fingernail that appears thin when viewed on end.\n", + " definition of HP:0012742 (Thin fingernail)\n", + " \n", + " \n", + " #Thin fingernail\n", + " definition of HP:0012742 (Thin fingernail)\n", + " \n", + " \n", + " Perinuclear antineutrophil antibody positivity\n", + " definition of HP:0032229 (Perinuclear antineutrophil antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies in the serum that react against proteins predominantly expressed in perinuclear region of neutrophils.\n", + " definition of HP:0032229 (Perinuclear antineutrophil antibody positivity)\n", + " \n", + " \n", + " #p-ANCA positivity\n", + " definition of HP:0032229 (Perinuclear antineutrophil antibody positivity)\n", + " \n", + " \n", + " Abnormality of circulating cortisol level\n", + " definition of HP:0011731 (Abnormality of circulating cortisol level)\n", + " \n", + " \n", + " An abnormality of the concentration of cortisol in the blood.\n", + " definition of HP:0011731 (Abnormality of circulating cortisol level)\n", + " \n", + " \n", + " Osteolytic defect of thumb phalanx\n", + " definition of HP:0009654 (Osteolytic defect of thumb phalanx)\n", + " \n", + " \n", + " Dissolution or degeneration of bone tissue of one or more phalanges of the thumb.\n", + " definition of HP:0009654 (Osteolytic defect of thumb phalanx)\n", + " \n", + " \n", + " #Osteolytic defects of the phalanges of the thumb\n", + " definition of HP:0009654 (Osteolytic defect of thumb phalanx)\n", + " \n", + " \n", + " Triggered by menstruation\n", + " definition of HP:0025220 (Triggered by menstruation)\n", + " \n", + " \n", + " Applies to a sign or symptom that is provoked or brought about by menstruation in a female.\n", + " definition of HP:0025220 (Triggered by menstruation)\n", + " \n", + " \n", + " #Menstruation triggered symptoms #Triggered by monthly period #Triggered by period\n", + " definition of HP:0025220 (Triggered by menstruation)\n", + " \n", + " \n", + " Broad chin\n", + " definition of HP:0011822 (Broad chin)\n", + " \n", + " \n", + " Increased width of the midpoint of the mandible (mental protuberance) and overlying soft tissue.\n", + " definition of HP:0011822 (Broad chin)\n", + " \n", + " \n", + " #Broad chin #Increased width of chin #Increased width of menton region #Wide chin\n", + " definition of HP:0011822 (Broad chin)\n", + " \n", + " \n", + " Pituitary acidophilic stem cell adenoma\n", + " definition of HP:0011758 (Pituitary acidophilic stem cell adenoma)\n", + " \n", + " \n", + " Abnormal lacrimal bone morphology\n", + " definition of HP:0430002 (Abnormal lacrimal bone morphology)\n", + " \n", + " \n", + " An abnormality of the lacrimal bone.\n", + " definition of HP:0430002 (Abnormal lacrimal bone morphology)\n", + " \n", + " \n", + " Irregular epiphyses of the metacarpals\n", + " definition of HP:0009190 (Irregular epiphyses of the metacarpals)\n", + " \n", + " \n", + " Irregular radiographic opacity of the epiphyses of the metacarpals.\n", + " definition of HP:0009190 (Irregular epiphyses of the metacarpals)\n", + " \n", + " \n", + " #Irregular end part of the long bone of hand\n", + " definition of HP:0009190 (Irregular epiphyses of the metacarpals)\n", + " \n", + " \n", + " Decreased urinary dopamine level\n", + " definition of HP:6000751 (Decreased urinary dopamine level)\n", + " \n", + " \n", + " The concentration of dopamine in the urine, normalized for urine concentration, is below the lower limit of normal.\n", + " definition of HP:6000751 (Decreased urinary dopamine level)\n", + " \n", + " \n", + " Leukocytoclastic vasculitis\n", + " definition of HP:0034786 (Leukocytoclastic vasculitis)\n", + " \n", + " \n", + " A type of vasculitis characterized by the presence of debris of neutrophils within the blood vessel walls.\n", + " definition of HP:0034786 (Leukocytoclastic vasculitis)\n", + " \n", + " \n", + " Reduced muscle fiber alpha dystroglycan\n", + " definition of HP:0030099 (Reduced muscle fiber alpha dystroglycan)\n", + " \n", + " \n", + " Immunohistochemistry reveals reduced alpha dystroglycan protein in the muscle biopsy. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly.\n", + " definition of HP:0030099 (Reduced muscle fiber alpha dystroglycan)\n", + " \n", + " \n", + " #Reduced muscle fibre alpha dystroglycan\n", + " definition of HP:0030099 (Reduced muscle fiber alpha dystroglycan)\n", + " \n", + " \n", + " Abnormal social behavior\n", + " definition of HP:0012433 (Abnormal social behavior)\n", + " \n", + " \n", + " An abnormality of actions or reactions of a person taking place during interactions with others.\n", + " definition of HP:0012433 (Abnormal social behavior)\n", + " \n", + " \n", + " #Abnormal social behavior #Abnormal social interactions\n", + " definition of HP:0012433 (Abnormal social behavior)\n", + " \n", + " \n", + " Vaginal dryness\n", + " definition of HP:0031088 (Vaginal dryness)\n", + " \n", + " \n", + " Persistent vaginal dryness.\n", + " definition of HP:0031088 (Vaginal dryness)\n", + " \n", + " \n", + " Segmental fracture\n", + " definition of HP:4000049 (Segmental fracture)\n", + " \n", + " \n", + " A type of fracture in which the same bone is fractured in two places, so there is a floating segment of bone.\n", + " definition of HP:4000049 (Segmental fracture)\n", + " \n", + " \n", + " Anti-mGluR5 antibody\n", + " definition of HP:5000025 (Anti-mGluR5 antibody)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against metabotropic glutamate receptor 5 (mGluR5).\n", + " definition of HP:5000025 (Anti-mGluR5 antibody)\n", + " \n", + " \n", + " #Anti-Metabotropic Glutamate Receptor Type 5 antibody\n", + " definition of HP:5000025 (Anti-mGluR5 antibody)\n", + " \n", + " \n", + " Intervertebral space narrowing\n", + " definition of HP:0002945 (Intervertebral space narrowing)\n", + " \n", + " \n", + " Decreased height of the intervertebral disk.\n", + " definition of HP:0002945 (Intervertebral space narrowing)\n", + " \n", + " \n", + " #Narrow intervertebral disc spaces #Narrow intervertebral disk spaces #Narrow intervertebral spaces\n", + " definition of HP:0002945 (Intervertebral space narrowing)\n", + " \n", + " \n", + " Polyclonal elevation of circulating IgG\n", + " definition of HP:0032288 (Polyclonal elevation of circulating IgG)\n", + " \n", + " \n", + " An increase in polyclonal immunoglobulins resulting from many different plasma cells. On serum electrophoresis, a polyclonal gammopathy is characterized by a broad diffuse band with one or more heavy chains and kappa and lambda light chains.\n", + " definition of HP:0032288 (Polyclonal elevation of circulating IgG)\n", + " \n", + " \n", + " Saccular abdominal aortic aneurysm\n", + " definition of HP:0031645 (Saccular abdominal aortic aneurysm)\n", + " \n", + " \n", + " An eccentric abnormal localized widening (dilatation) of the abdominal aorta that involves only a portion of the circumference of the vessel wall.\n", + " definition of HP:0031645 (Saccular abdominal aortic aneurysm)\n", + " \n", + " \n", + " Contracture of the distal interphalangeal joint of the 3rd finger\n", + " definition of HP:0009469 (Contracture of the distal interphalangeal joint of the 3rd finger)\n", + " \n", + " \n", + " Chronic loss of joint motion of the distal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue.\n", + " definition of HP:0009469 (Contracture of the distal interphalangeal joint of the 3rd finger)\n", + " \n", + " \n", + " #Contracture of the outermost hinge joint of the 3rd finger\n", + " definition of HP:0009469 (Contracture of the distal interphalangeal joint of the 3rd finger)\n", + " \n", + " \n", + " Triangular epiphyses of the 5th finger\n", + " definition of HP:0009392 (Triangular epiphyses of the 5th finger)\n", + " \n", + " \n", + " A triangular appearance of the epiphyses of the 5th finger of the hand.\n", + " definition of HP:0009392 (Triangular epiphyses of the 5th finger)\n", + " \n", + " \n", + " #Delta-shaped epiphyses of the 5th finger #Triangular end part of the little finger #Triangular end part of the pinkie finger #Triangular end part of the pinky finger\n", + " definition of HP:0009392 (Triangular epiphyses of the 5th finger)\n", + " \n", + " \n", + " Scarring\n", + " definition of HP:0100699 (Scarring)\n", + " \n", + " \n", + " A scar refers to a lesion in which wound, burn, or sore has not healed completely and fibrous connective tissue has developed.\n", + " definition of HP:0100699 (Scarring)\n", + " \n", + " \n", + " #Scarring\n", + " definition of HP:0100699 (Scarring)\n", + " \n", + " \n", + " Atelencephaly\n", + " definition of HP:0025692 (Atelencephaly)\n", + " \n", + " \n", + " A defect of development of the brain characterized by absence of the telencephalon (embryonic structure from which the mature cerebrum develops).\n", + " definition of HP:0025692 (Atelencephaly)\n", + " \n", + " \n", + " Handgrip myotonia\n", + " definition of HP:0012899 (Handgrip myotonia)\n", + " \n", + " \n", + " Difficulty releasing one's grip associated with prolonged first handgrip relaxation times.\n", + " definition of HP:0012899 (Handgrip myotonia)\n", + " \n", + " \n", + " #Grip myotonia\n", + " definition of HP:0012899 (Handgrip myotonia)\n", + " \n", + " \n", + " Acute infectious pneumonia\n", + " definition of HP:0011949 (Acute infectious pneumonia)\n", + " \n", + " \n", + " Acute inflammation of the lung due to an infection.\n", + " definition of HP:0011949 (Acute infectious pneumonia)\n", + " \n", + " \n", + " Limitation of knee mobility\n", + " definition of HP:0010501 (Limitation of knee mobility)\n", + " \n", + " \n", + " An abnormal limitation of knee joint mobility.\n", + " definition of HP:0010501 (Limitation of knee mobility)\n", + " \n", + " \n", + " #Limitation of knee mobility #Limited knee movement\n", + " definition of HP:0010501 (Limitation of knee mobility)\n", + " \n", + " \n", + " Abnormal pelvis bone ossification\n", + " definition of HP:0009106 (Abnormal pelvis bone ossification)\n", + " \n", + " \n", + " An abnormality of the formation and mineralization of any bone of the bony pelvis.\n", + " definition of HP:0009106 (Abnormal pelvis bone ossification)\n", + " \n", + " \n", + " #Abnormal ossification involving the bones of the pelvis\n", + " definition of HP:0009106 (Abnormal pelvis bone ossification)\n", + " \n", + " \n", + " Ectopic liver\n", + " definition of HP:0030722 (Ectopic liver)\n", + " \n", + " \n", + " Ectopic liver is a rare developmental anomaly in which liver tissue is situated outside the liver. Thus, ectopic liver refers to autonomous islands of normal liver parenchyma located outside the liver. The term ectopic liver is also used, to include liver appendices attached to the native liver by a thin stalk although being fully separated from the latter.\n", + " definition of HP:0030722 (Ectopic liver)\n", + " \n", + " \n", + " Disseminated nontuberculous mycobacterial infection\n", + " definition of HP:0032283 (Disseminated nontuberculous mycobacterial infection)\n", + " \n", + " \n", + " An infection with nontuberculous mycobacteria that affects multiple body sites. Such infections can occur in individuals with immune disease.\n", + " definition of HP:0032283 (Disseminated nontuberculous mycobacterial infection)\n", + " \n", + " \n", + " Focal sensory seizure with olfactory features\n", + " definition of HP:0011161 (Focal sensory seizure with olfactory features)\n", + " \n", + " \n", + " Seizures characterized by olfactory phenomena as its first clinical manifestation.\n", + " definition of HP:0011161 (Focal sensory seizure with olfactory features)\n", + " \n", + " \n", + " #Focal olfactory seizure #Olfactory aura #Olfactory auras #Partial olfactory seizure\n", + " definition of HP:0011161 (Focal sensory seizure with olfactory features)\n", + " \n", + " \n", + " Panniculitis\n", + " definition of HP:0012490 (Panniculitis)\n", + " \n", + " \n", + " Inflammation of subcutaneous adipose tissue.\n", + " definition of HP:0012490 (Panniculitis)\n", + " \n", + " \n", + " #Inflammation of adipose tissue #Inflammation of fat tissue\n", + " definition of HP:0012490 (Panniculitis)\n", + " \n", + " \n", + " Multiple joint dislocation\n", + " definition of HP:0012095 (Multiple joint dislocation)\n", + " \n", + " \n", + " Dislocation of many joints.\n", + " definition of HP:0012095 (Multiple joint dislocation)\n", + " \n", + " \n", + " Urinary incontinence\n", + " definition of HP:0000020 (Urinary incontinence)\n", + " \n", + " \n", + " Loss of the ability to control the urinary bladder leading to involuntary urination.\n", + " definition of HP:0000020 (Urinary incontinence)\n", + " \n", + " \n", + " #Bladder incontinence #Loss of bladder control\n", + " definition of HP:0000020 (Urinary incontinence)\n", + " \n", + " \n", + " Abnormal LDL cholesterol concentration\n", + " definition of HP:0031886 (Abnormal LDL cholesterol concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of low-density lipoprotein cholesterol in the blood circulation.\n", + " definition of HP:0031886 (Abnormal LDL cholesterol concentration)\n", + " \n", + " \n", + " #Abnormal LDL-C concentration #Abnormal LDL-C level #Abnormal LDLc concentration\n", + " definition of HP:0031886 (Abnormal LDL cholesterol concentration)\n", + " \n", + " \n", + " Neuronal loss in basal ganglia\n", + " definition of HP:0200147 (Neuronal loss in basal ganglia)\n", + " \n", + " \n", + " A reduction in the number of nerve cells in the basal ganglia.\n", + " definition of HP:0200147 (Neuronal loss in basal ganglia)\n", + " \n", + " \n", + " Spinocerebellar tract disease in lower limbs\n", + " definition of HP:0007232 (Spinocerebellar tract disease in lower limbs)\n", + " \n", + " \n", + " Normal interictal EEG\n", + " definition of HP:0002372 (Normal interictal EEG)\n", + " \n", + " \n", + " Lack of observable abnormal electroencephalographic (EEG) patterns in an individual with a history of seizures. About half of individuals with epilepsy show interictal epileptiform discharges upon the first investigation. The yield can be increased by repeated studies, sleep studies, or by ambulatory EEG recordings over 24 hours. Normal interictal EEG is a sign that can be useful in the differential diagnosis.\n", + " definition of HP:0002372 (Normal interictal EEG)\n", + " \n", + " \n", + " Pulsatile tinnitus\n", + " definition of HP:0008629 (Pulsatile tinnitus)\n", + " \n", + " \n", + " Pulsatile tinnitus is generally classified a kind of objective tinnitus, meaning that it is not only audible to the patient but also to the examiner on auscultation of the auditory canal and/or of surrounding structures with use of an auscultation tube or stethoscope. Usually, pulsatile tinnitus is heard as a lower pitched thumping or booming, a rougher blowing sound which is coincidental with respiration, or as a clicking, higher pitched rhythmic sensation.\n", + " definition of HP:0008629 (Pulsatile tinnitus)\n", + " \n", + " \n", + " Increased circulating interleukin 1beta concentration\n", + " definition of HP:6000374 (Increased circulating interleukin 1beta concentration)\n", + " \n", + " \n", + " An increased concentration of interleukin-1beta in the blood circulation.\n", + " definition of HP:6000374 (Increased circulating interleukin 1beta concentration)\n", + " \n", + " \n", + " Absent internal auditory canal\n", + " definition of HP:0011385 (Absent internal auditory canal)\n", + " \n", + " \n", + " Aplasia of the internal auditory canal.\n", + " definition of HP:0011385 (Absent internal auditory canal)\n", + " \n", + " \n", + " Nonprogressive\n", + " definition of HP:0003680 (Nonprogressive)\n", + " \n", + " \n", + " Applies to a disease manifestation that does not increase in scope or severity over the course of time, i.e., that does not worsen with age.\n", + " definition of HP:0003680 (Nonprogressive)\n", + " \n", + " \n", + " #Does not worsen #Non-progressive #Nonprogressive course #Nonprogressive disorder #Stationary\n", + " definition of HP:0003680 (Nonprogressive)\n", + " \n", + " \n", + " Elevated circulating C-reactive protein concentration\n", + " definition of HP:0011227 (Elevated circulating C-reactive protein concentration)\n", + " \n", + " \n", + " An abnormal elevation of the C-reactive protein level in the blood circulation.\n", + " definition of HP:0011227 (Elevated circulating C-reactive protein concentration)\n", + " \n", + " \n", + " #Elevated C-reactive protein level\n", + " definition of HP:0011227 (Elevated circulating C-reactive protein concentration)\n", + " \n", + " \n", + " Fragmented epiphyses\n", + " definition of HP:0100168 (Fragmented epiphyses)\n", + " \n", + " \n", + " Fragmented appearance of the epiphyses.\n", + " definition of HP:0100168 (Fragmented epiphyses)\n", + " \n", + " \n", + " #Fragmented end part of bone\n", + " definition of HP:0100168 (Fragmented epiphyses)\n", + " \n", + " \n", + " Thyroid carcinoma\n", + " definition of HP:0002890 (Thyroid carcinoma)\n", + " \n", + " \n", + " The presence of a carcinoma of the thyroid gland.\n", + " definition of HP:0002890 (Thyroid carcinoma)\n", + " \n", + " \n", + " Positive lacrimal tract actinomyces culture\n", + " definition of HP:6000792 (Positive lacrimal tract actinomyces culture)\n", + " \n", + " \n", + " Growth of Actinomyces israelii (anaerobic filamentous gram positive) culture of lacrimal discharge or concretions.\n", + " definition of HP:6000792 (Positive lacrimal tract actinomyces culture)\n", + " \n", + " \n", + " Delayed CNS myelination\n", + " definition of HP:0002188 (Delayed CNS myelination)\n", + " \n", + " \n", + " Delayed myelination in the central nervous system.\n", + " definition of HP:0002188 (Delayed CNS myelination)\n", + " \n", + " \n", + " #Delay in central nervous system myelination\n", + " definition of HP:0002188 (Delayed CNS myelination)\n", + " \n", + " \n", + " Reduced circulating matrix metalloproteinase 2 concentration\n", + " definition of HP:0034615 (Reduced circulating matrix metalloproteinase 2 concentration)\n", + " \n", + " \n", + " Concentration of matrix metalloproteinase 2 in the blood circulation below the lower limit of normal.\n", + " definition of HP:0034615 (Reduced circulating matrix metalloproteinase 2 concentration)\n", + " \n", + " \n", + " Abnormal circulating interleukin 17A concentration\n", + " definition of HP:0034176 (Abnormal circulating interleukin 17A concentration)\n", + " \n", + " \n", + " Any deviation from the normal range of the concentration of interleukin 17A in the blood circulation.\n", + " definition of HP:0034176 (Abnormal circulating interleukin 17A concentration)\n", + " \n", + " \n", + " Triggered by\n", + " definition of HP:0025204 (Triggered by)\n", + " \n", + " \n", + " A trigger is defined as an external factor that leads to the manifestation of a sign or symptom in a person with a susceptibility to developing that manifestation.\n", + " definition of HP:0025204 (Triggered by)\n", + " \n", + " \n", + " Postpartum exacerbation\n", + " definition of HP:6000091 (Postpartum exacerbation)\n", + " \n", + " \n", + " Applied to a sign or symptom that is present during pregnancy and becomes worse following birth.\n", + " definition of HP:6000091 (Postpartum exacerbation)\n", + " \n", + " \n", + " #Symptoms worsen in post-partum state\n", + " definition of HP:6000091 (Postpartum exacerbation)\n", + " \n", + " \n", + " Decerebrate rigidity\n", + " definition of HP:0025013 (Decerebrate rigidity)\n", + " \n", + " \n", + " A type of rigidity that is manifested by an exaggerated extensor posture of all extremities.\n", + " definition of HP:0025013 (Decerebrate rigidity)\n", + " \n", + " \n", + " #Decerebrate posturing\n", + " definition of HP:0025013 (Decerebrate rigidity)\n", + " \n", + " \n", + " Enlarged interphalangeal joints\n", + " definition of HP:0006247 (Enlarged interphalangeal joints)\n", + " \n", + " \n", + " #Enlarged hinge joints\n", + " definition of HP:0006247 (Enlarged interphalangeal joints)\n", + " \n", + " \n", + " Sclerosing cholangitis\n", + " definition of HP:0030991 (Sclerosing cholangitis)\n", + " \n", + " \n", + " Cholangitis associated with evident ductal fibrosis that develops as a consequence of long-standing bile duct inflammatory, obstruction, or ischemic injury; it can be obliterative or nonobliterative.\n", + " definition of HP:0030991 (Sclerosing cholangitis)\n", + " \n", + " \n", + " #Fibrous cholangitis\n", + " definition of HP:0030991 (Sclerosing cholangitis)\n", + " \n", + " \n", + " Patchy sclerosis of toe phalanx\n", + " definition of HP:0010178 (Patchy sclerosis of toe phalanx)\n", + " \n", + " \n", + " Uneven (irregular) increase in bone density of one or more of the phalanges of the foot.\n", + " definition of HP:0010178 (Patchy sclerosis of toe phalanx)\n", + " \n", + " \n", + " #Patchy sclerosis of the phalanges of the toes #Uneven increase in bone density in toe bone\n", + " definition of HP:0010178 (Patchy sclerosis of toe phalanx)\n", + " \n", + " \n", + " Neutropenia\n", + " definition of HP:0001875 (Neutropenia)\n", + " \n", + " \n", + " An abnormally low number of neutrophils in the peripheral blood.\n", + " definition of HP:0001875 (Neutropenia)\n", + " \n", + " \n", + " #Low blood neutrophil count #Low neutrophil count #Neutropoenia #Peripheral neutropenia\n", + " definition of HP:0001875 (Neutropenia)\n", + " \n", + " \n", + " Abnormal circulating purine concentration\n", + " definition of HP:0004352 (Abnormal circulating purine concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of a purine in the blood circulation.\n", + " definition of HP:0004352 (Abnormal circulating purine concentration)\n", + " \n", + " \n", + " #Abnormal circulating purine level\n", + " definition of HP:0004352 (Abnormal circulating purine concentration)\n", + " \n", + " \n", + " Reduced epidermal extracellular matrix protein 1 protein expression\n", + " definition of HP:0034760 (Reduced epidermal extracellular matrix protein 1 protein expression)\n", + " \n", + " \n", + " Lower than normal amount of extracellular matrix protein 1 (ECM1) in the epidermis.\n", + " definition of HP:0034760 (Reduced epidermal extracellular matrix protein 1 protein expression)\n", + " \n", + " \n", + " #Reduced epidermal ECM1 protein expression\n", + " definition of HP:0034760 (Reduced epidermal extracellular matrix protein 1 protein expression)\n", + " \n", + " \n", + " Abnormal circulating mannose-binding protein concentration\n", + " definition of HP:0032304 (Abnormal circulating mannose-binding protein concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of mannose-binding protein in the blood circulation.\n", + " definition of HP:0032304 (Abnormal circulating mannose-binding protein concentration)\n", + " \n", + " \n", + " Cone-shaped epiphyses of the 5th toe\n", + " definition of HP:0100079 (Cone-shaped epiphyses of the 5th toe)\n", + " \n", + " \n", + " #Cone-shaped end part of the little toe bone #Cone-shaped end part of the pinkie toe bone #Cone-shaped end part of the pinky toe bone\n", + " definition of HP:0100079 (Cone-shaped epiphyses of the 5th toe)\n", + " \n", + " \n", + " Pyloric stenosis\n", + " definition of HP:0002021 (Pyloric stenosis)\n", + " \n", + " \n", + " Pyloric stenosis, also known as infantile hypertrophic pyloric stenosis, is an uncommon condition in infants characterized by abnormal thickening of the pylorus muscles in the stomach leading to gastric outlet obstruction. Clinically infants are well at birth. Then, at 3 to 6 weeks of age, the infants present with projectile vomiting, potentially leading to dehydration and weight loss.\n", + " definition of HP:0002021 (Pyloric stenosis)\n", + " \n", + " \n", + " #Infantile hypertrophic pyloric stenosis #Pylorus stenosis\n", + " definition of HP:0002021 (Pyloric stenosis)\n", + " \n", + " \n", + " Clonal T cell receptor rearrangement\n", + " definition of HP:0032577 (Clonal T cell receptor rearrangement)\n", + " \n", + " \n", + " Presence of a predominant T cell clone. In PCR-based assays, this finding is inferred on the basis of one or two prominent bands within a valid size range. In NGS-based assays, this finding is inferred on the basis of a high number of reads that map to a single T cell receptor clone.\n", + " definition of HP:0032577 (Clonal T cell receptor rearrangement)\n", + " \n", + " \n", + " Ventilator dependence with inability to wean\n", + " definition of HP:0005946 (Ventilator dependence with inability to wean)\n", + " \n", + " \n", + " Fractured head of femur\n", + " definition of HP:0041221 (Fractured head of femur)\n", + " \n", + " \n", + " A partial or complete breakage of the head of femur.\n", + " definition of HP:0041221 (Fractured head of femur)\n", + " \n", + " \n", + " #bone head of femur\n", + " definition of HP:0041221 (Fractured head of femur)\n", + " \n", + " \n", + " Enlarged epiphysis of the proximal phalanx of the 5th finger\n", + " definition of HP:0009158 (Enlarged epiphysis of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms.\n", + " definition of HP:0009158 (Enlarged epiphysis of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " #Enlarged end part of the innermost bone of little finger #Enlarged end part of the innermost bone of pinkie finger #Enlarged end part of the innermost bone of pinky finger\n", + " definition of HP:0009158 (Enlarged epiphysis of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the nipples\n", + " definition of HP:0006709 (Aplasia/Hypoplasia of the nipples)\n", + " \n", + " \n", + " #Absent/rudimentary nipples #Absent/small nipples #Absent/underdeveloped nipples #Nipples absent or rudimentary\n", + " definition of HP:0006709 (Aplasia/Hypoplasia of the nipples)\n", + " \n", + " \n", + " Ubiquitin-positive cerebral inclusion bodies\n", + " definition of HP:0012083 (Ubiquitin-positive cerebral inclusion bodies)\n", + " \n", + " \n", + " Nuclear or cytoplasmic aggregates that show positive staining with antibodies against ubiquitin within cells of the brain.\n", + " definition of HP:0012083 (Ubiquitin-positive cerebral inclusion bodies)\n", + " \n", + " \n", + " Multifocal cerebral white matter abnormalities\n", + " definition of HP:0007052 (Multifocal cerebral white matter abnormalities)\n", + " \n", + " \n", + " Abnormal CSF ion concentration\n", + " definition of HP:0034822 (Abnormal CSF ion concentration)\n", + " \n", + " \n", + " Tracheal atresia\n", + " definition of HP:0100682 (Tracheal atresia)\n", + " \n", + " \n", + " A congenital absence or considerable underdevelopment of the trachea such that communication between the larynx proximally and the alveoli of the lungs distally is lacking.\n", + " definition of HP:0100682 (Tracheal atresia)\n", + " \n", + " \n", + " Ganglioneuroblastoma\n", + " definition of HP:0006747 (Ganglioneuroblastoma)\n", + " \n", + " \n", + " Irregular epiphyses of the 5th finger\n", + " definition of HP:0009387 (Irregular epiphyses of the 5th finger)\n", + " \n", + " \n", + " Irregular radiographic opacity of the epiphyses of the 5th finger.\n", + " definition of HP:0009387 (Irregular epiphyses of the 5th finger)\n", + " \n", + " \n", + " #Irregular end part of the little finger bones #Irregular end part of the pinkie finger bones #Irregular end part of the pinky finger bones\n", + " definition of HP:0009387 (Irregular epiphyses of the 5th finger)\n", + " \n", + " \n", + " Hepatic cystine accumulation\n", + " definition of HP:6001032 (Hepatic cystine accumulation)\n", + " \n", + " \n", + " Accumulation of cystine in the liver.\n", + " definition of HP:6001032 (Hepatic cystine accumulation)\n", + " \n", + " \n", + " Abnormal CSF glutamine concentration\n", + " definition of HP:0500196 (Abnormal CSF glutamine concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of glutamine amino acids in the cerebrospinal fluid.\n", + " definition of HP:0500196 (Abnormal CSF glutamine concentration)\n", + " \n", + " \n", + " #Abnormal glutamine levels in cerebrospinal fluid\n", + " definition of HP:0500196 (Abnormal CSF glutamine concentration)\n", + " \n", + " \n", + " Multiple rows of eyelashes\n", + " definition of HP:0008496 (Multiple rows of eyelashes)\n", + " \n", + " \n", + " #Extra rows of eyelashes #Multiple rows of eyelashes\n", + " definition of HP:0008496 (Multiple rows of eyelashes)\n", + " \n", + " \n", + " CNS demyelination\n", + " definition of HP:0007305 (CNS demyelination)\n", + " \n", + " \n", + " A loss of myelin from nerve fibers in the central nervous system.\n", + " definition of HP:0007305 (CNS demyelination)\n", + " \n", + " \n", + " #Demyelination in central white matter\n", + " definition of HP:0007305 (CNS demyelination)\n", + " \n", + " \n", + " Christmas tree cataract\n", + " definition of HP:0025571 (Christmas tree cataract)\n", + " \n", + " \n", + " A type of cataract that shows a spectacular display of multiple colors that glitters with the change of incident light like an illuminated Christmas tree.\n", + " definition of HP:0025571 (Christmas tree cataract)\n", + " \n", + " \n", + " Uterine adenofibroma\n", + " definition of HP:0034709 (Uterine adenofibroma)\n", + " \n", + " \n", + " A rare benign mullerian mixed tumor of the uterus composed of benign epithelial and mesenchymal components.\n", + " definition of HP:0034709 (Uterine adenofibroma)\n", + " \n", + " \n", + " Horizontal position of testicle\n", + " definition of HP:6000839 (Horizontal position of testicle)\n", + " \n", + " \n", + " The Bell Clapper deformity is one of the causes for the testicular torsion. In this condition, testis lacks a normal attachment to tunica vaginalis and hangs freely, causing it to sit horizontally rather than vertically in the scrotum.\n", + " definition of HP:6000839 (Horizontal position of testicle)\n", + " \n", + " \n", + " #Bell-clapper deformity\n", + " definition of HP:6000839 (Horizontal position of testicle)\n", + " \n", + " \n", + " Aplasia/hypoplasia of the proximal phalanx of the 4th toe\n", + " definition of HP:0100376 (Aplasia/hypoplasia of the proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " Absence (agenesis) or underdevelopment of the proximal phalanx of the 4th toe.\n", + " definition of HP:0100376 (Aplasia/hypoplasia of the proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " #Absent/small innermost 4th toe bone #Absent/underdeveloped innermost 4th toe bone\n", + " definition of HP:0100376 (Aplasia/hypoplasia of the proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " Increased circulating octadecanoate level\n", + " definition of HP:0025627 (Increased circulating octadecanoate level)\n", + " \n", + " \n", + " An abnormally high concentration of octadecanoate in the blood circulation. Octadecanoate is a fatty acid anion 18:0 that is the conjugate base of octadecanoic acid (stearic acid).\n", + " definition of HP:0025627 (Increased circulating octadecanoate level)\n", + " \n", + " \n", + " Abnormal enzyme concentration or activity\n", + " definition of HP:0034684 (Abnormal enzyme concentration or activity)\n", + " \n", + " \n", + " Concentration or activity of an enzyme is above or below the limits of normal.\n", + " definition of HP:0034684 (Abnormal enzyme concentration or activity)\n", + " \n", + " \n", + " Bacteria in cerebrospinal fluid\n", + " definition of HP:0034429 (Bacteria in cerebrospinal fluid)\n", + " \n", + " \n", + " Presence of bacteria in the cerebrospinal fluid, as manifested by visual inspection or bacterial culture results.\n", + " definition of HP:0034429 (Bacteria in cerebrospinal fluid)\n", + " \n", + " \n", + " #Bacteria in CSF\n", + " definition of HP:0034429 (Bacteria in cerebrospinal fluid)\n", + " \n", + " \n", + " Irregular epiphysis of the distal phalanx of the thumb\n", + " definition of HP:0009680 (Irregular epiphysis of the distal phalanx of the thumb)\n", + " \n", + " \n", + " Uneven radiographic opacity of the epiphysis of the distal phalanx of the thumb.\n", + " definition of HP:0009680 (Irregular epiphysis of the distal phalanx of the thumb)\n", + " \n", + " \n", + " #Irregular end part of thumb outermost bone\n", + " definition of HP:0009680 (Irregular epiphysis of the distal phalanx of the thumb)\n", + " \n", + " \n", + " Slender nose\n", + " definition of HP:0000417 (Slender nose)\n", + " \n", + " \n", + " #Slender nose\n", + " definition of HP:0000417 (Slender nose)\n", + " \n", + " \n", + " Primary peritoneal carcinoma\n", + " definition of HP:0030406 (Primary peritoneal carcinoma)\n", + " \n", + " \n", + " A type of cancer that originates in the peritoneum. It is to be distinguished from metastatic cancer of the peritoneum. Peritoneal cancer can occur anywhere in the abdominal space, and affects the surface of organs contained inside the peritoneum.\n", + " definition of HP:0030406 (Primary peritoneal carcinoma)\n", + " \n", + " \n", + " Wilson sign\n", + " definition of HP:0032102 (Wilson sign)\n", + " \n", + " \n", + " Wilson sign is defined as the elicitation of pain by internally rotating the patient's tibia during knee extension between 90 degrees and 30 degrees of flexion and then relieving that pain by externally rotating the tibia.\n", + " definition of HP:0032102 (Wilson sign)\n", + " \n", + " \n", + " Recurrent meningitis\n", + " definition of HP:0006946 (Recurrent meningitis)\n", + " \n", + " \n", + " An increased susceptibility to meningitis as manifested by a medical history of recurrent episodes of meningitis.\n", + " definition of HP:0006946 (Recurrent meningitis)\n", + " \n", + " \n", + " Abnormal posterior pituitary morphogenesis\n", + " definition of HP:0011751 (Abnormal posterior pituitary morphogenesis)\n", + " \n", + " \n", + " An abnormality of the neurohypophysis, which is also known as the posterior lobe of the hypophysis.\n", + " definition of HP:0011751 (Abnormal posterior pituitary morphogenesis)\n", + " \n", + " \n", + " #Abnormality of the neurohypophysis #Abnormality of the posterior pituitary\n", + " definition of HP:0011751 (Abnormal posterior pituitary morphogenesis)\n", + " \n", + " \n", + " Absent phalangeal crease\n", + " definition of HP:0006109 (Absent phalangeal crease)\n", + " \n", + " \n", + " Absence of one or more interphalangeal creases (i.e., of the transverse lines in the skin between the phalanges of the fingers).\n", + " definition of HP:0006109 (Absent phalangeal crease)\n", + " \n", + " \n", + " #Absent interphalangeal creases\n", + " definition of HP:0006109 (Absent phalangeal crease)\n", + " \n", + " \n", + " Hyperintensity of cerebral white matter on MRI\n", + " definition of HP:0030890 (Hyperintensity of cerebral white matter on MRI)\n", + " \n", + " \n", + " A brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter.\n", + " definition of HP:0030890 (Hyperintensity of cerebral white matter on MRI)\n", + " \n", + " \n", + " #White matter hyperintensity\n", + " definition of HP:0030890 (Hyperintensity of cerebral white matter on MRI)\n", + " \n", + " \n", + " Clinodactyly of the 2nd toe\n", + " definition of HP:0005824 (Clinodactyly of the 2nd toe)\n", + " \n", + " \n", + " Bending or curvature of a second toe in the tibial direction (i.e., towards the big toe).\n", + " definition of HP:0005824 (Clinodactyly of the 2nd toe)\n", + " \n", + " \n", + " #Clinodactyly of second toes\n", + " definition of HP:0005824 (Clinodactyly of the 2nd toe)\n", + " \n", + " \n", + " Female reproductive system neoplasm\n", + " definition of HP:0033020 (Female reproductive system neoplasm)\n", + " \n", + " \n", + " A neoplasm that affects the female reproductive system.\n", + " definition of HP:0033020 (Female reproductive system neoplasm)\n", + " \n", + " \n", + " Stereotypical hand wringing\n", + " definition of HP:0012171 (Stereotypical hand wringing)\n", + " \n", + " \n", + " Habitual clasping and wringing of the hands in the middle of the body, similar to a hand-washing movement.\n", + " definition of HP:0012171 (Stereotypical hand wringing)\n", + " \n", + " \n", + " #Hand clasping #Hand-wringing #Handwringing\n", + " definition of HP:0012171 (Stereotypical hand wringing)\n", + " \n", + " \n", + " Diaphyseal cortical sclerosis\n", + " definition of HP:0005045 (Diaphyseal cortical sclerosis)\n", + " \n", + " \n", + " An elevation in bone density of the cortex of one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity.\n", + " definition of HP:0005045 (Diaphyseal cortical sclerosis)\n", + " \n", + " \n", + " Increased intestinal transit time\n", + " definition of HP:0410204 (Increased intestinal transit time)\n", + " \n", + " \n", + " An increase in the length of time required for food to pass through the intestines.\n", + " definition of HP:0410204 (Increased intestinal transit time)\n", + " \n", + " \n", + " Low 5-minute APGAR score\n", + " definition of HP:0030919 (Low 5-minute APGAR score)\n", + " \n", + " \n", + " #Low five-minute APGAR score\n", + " definition of HP:0030919 (Low 5-minute APGAR score)\n", + " \n", + " \n", + " Air trapping\n", + " definition of HP:0033663 (Air trapping)\n", + " \n", + " \n", + " Air trapping is retention of air in the lung distal to an obstruction (usually partial). Air trapping is seen on end-expiration CT scans as parenchymal areas with less than normal increase in attenuation and lack of volume reduction. Comparison between inspiratory and expiratory CT scans can be helpful when air trapping is subtle or diffuse.\n", + " definition of HP:0033663 (Air trapping)\n", + " \n", + " \n", + " Dementia\n", + " definition of HP:0000726 (Dementia)\n", + " \n", + " \n", + " A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.\n", + " definition of HP:0000726 (Dementia)\n", + " \n", + " \n", + " #Dementia #Dementia, progressive #Progressive dementia\n", + " definition of HP:0000726 (Dementia)\n", + " \n", + " \n", + " Necrotizing vasculitis\n", + " definition of HP:6000253 (Necrotizing vasculitis)\n", + " \n", + " \n", + " A histopathological finding characterized by inflammation of the arterial and/or capillary and/or venous blood vessels, leading to a change in the vascular wall as a whole.\n", + " definition of HP:6000253 (Necrotizing vasculitis)\n", + " \n", + " \n", + " Elevated circulating pancreatic secretory trypsin inhibitor activity\n", + " definition of HP:0034545 (Elevated circulating pancreatic secretory trypsin inhibitor activity)\n", + " \n", + " \n", + " Increased activity of the enzyme pancreatic secretory trypsin inhibitor in the blood circulation.\n", + " definition of HP:0034545 (Elevated circulating pancreatic secretory trypsin inhibitor activity)\n", + " \n", + " \n", + " #Elevated circulating serine protease inhibitor Kazal type I #Elevated circulating SPINK1 activity\n", + " definition of HP:0034545 (Elevated circulating pancreatic secretory trypsin inhibitor activity)\n", + " \n", + " \n", + " Enlarged metacarpal epiphyses\n", + " definition of HP:0006134 (Enlarged metacarpal epiphyses)\n", + " \n", + " \n", + " Abnormally large size of one or more growth plates (epiphyses) of the metacarpal bones (i.e., the tubular bones of the hand between the carpus and the phalanges).\n", + " definition of HP:0006134 (Enlarged metacarpal epiphyses)\n", + " \n", + " \n", + " #Enlarged end part of long bone of hand\n", + " definition of HP:0006134 (Enlarged metacarpal epiphyses)\n", + " \n", + " \n", + " Positive urine amphetamine test\n", + " definition of HP:0500112 (Positive urine amphetamine test)\n", + " \n", + " \n", + " Detection of amphetamine or its metabolites in urine.\n", + " definition of HP:0500112 (Positive urine amphetamine test)\n", + " \n", + " \n", + " Tongue muscle weakness\n", + " definition of HP:0000183 (Tongue muscle weakness)\n", + " \n", + " \n", + " Reduced strength of the tongue musculature, resulting in difficulties moving the tongue and possible accompanied by dysarthria or dysphagia.\n", + " definition of HP:0000183 (Tongue muscle weakness)\n", + " \n", + " \n", + " Palmar pits\n", + " definition of HP:0010610 (Palmar pits)\n", + " \n", + " \n", + " Diffuse cerebral sclerosis\n", + " definition of HP:0006918 (Diffuse cerebral sclerosis)\n", + " \n", + " \n", + " Focal motor seizure with dysarthria/anarthria\n", + " definition of HP:0032720 (Focal motor seizure with dysarthria/anarthria)\n", + " \n", + " \n", + " A type of focal motor seizure characterized by difficulty with articulation of speech, due to impaired coordination of muscles involved in speech sound production as the initial semiological manifestation. Receptive and expressive language functions are intact, however speech is poorly articulated and is less intelligible.\n", + " definition of HP:0032720 (Focal motor seizure with dysarthria/anarthria)\n", + " \n", + " \n", + " Rhizomelia\n", + " definition of HP:0008905 (Rhizomelia)\n", + " \n", + " \n", + " Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).\n", + " definition of HP:0008905 (Rhizomelia)\n", + " \n", + " \n", + " #Disproportionately short upper portion of limb #Rhizomelic dwarfism #Rhizomelic limb shortening #Rhizomelic short limbs #Rhizomelic short stature #Rhizomelic shortening #Short stature, rhizomelic #Symmetrical rhizomelic limb shortening\n", + " definition of HP:0008905 (Rhizomelia)\n", + " \n", + " \n", + " Secretory adrenocortical adenoma\n", + " definition of HP:0011746 (Secretory adrenocortical adenoma)\n", + " \n", + " \n", + " An hormonally active adrenocortical adenoma, that is, an adenoma that secretes excessive amounts of adrenal hormones.\n", + " definition of HP:0011746 (Secretory adrenocortical adenoma)\n", + " \n", + " \n", + " #Secretory adrenal adenoma\n", + " definition of HP:0011746 (Secretory adrenocortical adenoma)\n", + " \n", + " \n", + " Elevated methylhex-dienedioic level by MRS\n", + " definition of HP:6000147 (Elevated methylhex-dienedioic level by MRS)\n", + " \n", + " \n", + " An increase in the level of 3-methylhex-2,4-dienedioic acid or 3-methylhex-3,4-dienedioic acid in the brain identified by magnetic resonance spectroscopy (MRS).\n", + " definition of HP:6000147 (Elevated methylhex-dienedioic level by MRS)\n", + " \n", + " \n", + " Lens coloboma\n", + " definition of HP:0100719 (Lens coloboma)\n", + " \n", + " \n", + " A sectoral indentation of the crystalline lens, usually due to zonular weakness or absence.\n", + " definition of HP:0100719 (Lens coloboma)\n", + " \n", + " \n", + " Hippocampal microinfarct\n", + " definition of HP:0033989 (Hippocampal microinfarct)\n", + " \n", + " \n", + " An infarct located in the structure of the cerebrum involved with memory storage and spatial navigation that can only be observed microscopically.\n", + " definition of HP:0033989 (Hippocampal microinfarct)\n", + " \n", + " \n", + " Decreased intracranial pressure\n", + " definition of HP:0012641 (Decreased intracranial pressure)\n", + " \n", + " \n", + " A reduction of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid.\n", + " definition of HP:0012641 (Decreased intracranial pressure)\n", + " \n", + " \n", + " #Intracranial hypotension\n", + " definition of HP:0012641 (Decreased intracranial pressure)\n", + " \n", + " \n", + " Abnormal femoral torsion\n", + " definition of HP:0031069 (Abnormal femoral torsion)\n", + " \n", + " \n", + " Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degrees at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion deviates from this range.\n", + " definition of HP:0031069 (Abnormal femoral torsion)\n", + " \n", + " \n", + " Lobulated\n", + " definition of HP:6001048 (Lobulated)\n", + " \n", + " \n", + " Applies to an abnormality that displays ultiple indentations and/or elevations producing an irregular surface contour.\n", + " definition of HP:6001048 (Lobulated)\n", + " \n", + " \n", + " Hyperechogenic pancreas\n", + " definition of HP:0006276 (Hyperechogenic pancreas)\n", + " \n", + " \n", + " Elevated urinary sulfatide level\n", + " definition of HP:6000120 (Elevated urinary sulfatide level)\n", + " \n", + " \n", + " The amount of sulfatides in the urine, normalized for urine concentration, is above the upper limit of normal. Sulfatides are derived from GalCer via esterification of a sulfate group to 3-hydroxyl of the galactose moiety.\n", + " definition of HP:6000120 (Elevated urinary sulfatide level)\n", + " \n", + " \n", + " Anaplastic large-cell lymphoma\n", + " definition of HP:0012193 (Anaplastic large-cell lymphoma)\n", + " \n", + " \n", + " A type of T-cell lymphoma that is characterized by so-called hallmark cells with a pleomorphic appearance that express the CD30 antigen, are lobulated, and have indented nuclei.\n", + " definition of HP:0012193 (Anaplastic large-cell lymphoma)\n", + " \n", + " \n", + " 10-minute APGAR score of 5\n", + " definition of HP:0033473 (10-minute APGAR score of 5)\n", + " \n", + " \n", + " Increased proportion of CD8-positive, alpha-beta memory T cells\n", + " definition of HP:0410392 (Increased proportion of CD8-positive, alpha-beta memory T cells)\n", + " \n", + " \n", + " An abnormally elevated proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.\n", + " definition of HP:0410392 (Increased proportion of CD8-positive, alpha-beta memory T cells)\n", + " \n", + " \n", + " Abnormality of the bed nucleus of stria terminalis\n", + " definition of HP:0030798 (Abnormality of the bed nucleus of stria terminalis)\n", + " \n", + " \n", + " The stria terminalis is a slender, compact fiber bundle that connects the amygdala (amygdaloid body) with the hypothalamus and other basal forebrain regions. The bed nucleus of the stria terminalis is a limbic forebrain structure that receives heavy projections from, among other areas, the basolateral amygdala, and projects in turn to hypothalamic and brainstem target areas that mediate many of the autonomic and behavioral responses to aversive or threatening stimuli. This term refers to an anomaly of the bed nucleus.\n", + " definition of HP:0030798 (Abnormality of the bed nucleus of stria terminalis)\n", + " \n", + " \n", + " Neoplasm of the autonomic nervous system\n", + " definition of HP:0030450 (Neoplasm of the autonomic nervous system)\n", + " \n", + " \n", + " A tumor that arises from an element of the autonomic nervous system.\n", + " definition of HP:0030450 (Neoplasm of the autonomic nervous system)\n", + " \n", + " \n", + " Eosinophilic infiltration in the stomach mucosa\n", + " definition of HP:0410147 (Eosinophilic infiltration in the stomach mucosa)\n", + " \n", + " \n", + " Infiltration of eosinophils in the stomach mucosa, that is diagnosed by an upper endoscopy and microscopy that shows more than 20 eosinophils per high-power field in association with peripheral eosinophilia and the absence of secondary cause of eosinophilia.\n", + " definition of HP:0410147 (Eosinophilic infiltration in the stomach mucosa)\n", + " \n", + " \n", + " #Eosinophilic gastritis\n", + " definition of HP:0410147 (Eosinophilic infiltration in the stomach mucosa)\n", + " \n", + " \n", + " Absence of lymph node germinal center\n", + " definition of HP:0002849 (Absence of lymph node germinal center)\n", + " \n", + " \n", + " Absence of germinal centers in lymph nodes. Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses.\n", + " definition of HP:0002849 (Absence of lymph node germinal center)\n", + " \n", + " \n", + " #Absence of lymph node germinal centre #Lymph nodes lack germinal center #Lymph nodes lack germinal centre #Lymphoid germinal center defect #Lymphoid germinal centre defect\n", + " definition of HP:0002849 (Absence of lymph node germinal center)\n", + " \n", + " \n", + " Curved 4th toe phalanx\n", + " definition of HP:0010374 (Curved 4th toe phalanx)\n", + " \n", + " \n", + " A deviation from the normal straight form of one or more phalanges of the fourth toe.\n", + " definition of HP:0010374 (Curved 4th toe phalanx)\n", + " \n", + " \n", + " #Curved bones of 4th toe #Curved phalanges of the 4th toe\n", + " definition of HP:0010374 (Curved 4th toe phalanx)\n", + " \n", + " \n", + " Abnormal stereopsis\n", + " definition of HP:0011515 (Abnormal stereopsis)\n", + " \n", + " \n", + " Inability to make fine depth discriminations from parallax provided by the two eyes' different positions on the head.\n", + " definition of HP:0011515 (Abnormal stereopsis)\n", + " \n", + " \n", + " Elevated myocardial native T1\n", + " definition of HP:4000006 (Elevated myocardial native T1)\n", + " \n", + " \n", + " Increased duration of myocardial T1 time without gadolinium contrast. T1 mapping consists of quantifying the T1 relaxation time of a tissue by using analytical expressions of image-based signal intensities. A fundamental principle of MR imaging is that the signal intensity of pixels is based on the relaxation of hydrogen nuclei protons in a static magnetic field. The T1 relaxation times between two tissues vary substantially. Edema, fat infiltration, and fibrosis also cause differences in T1 relaxivity.\n", + " definition of HP:4000006 (Elevated myocardial native T1)\n", + " \n", + " \n", + " #Prolonged myocardial native T1\n", + " definition of HP:4000006 (Elevated myocardial native T1)\n", + " \n", + " \n", + " Telangiectasia of the oral mucosa\n", + " definition of HP:0007428 (Telangiectasia of the oral mucosa)\n", + " \n", + " \n", + " Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the oral mucosa.\n", + " definition of HP:0007428 (Telangiectasia of the oral mucosa)\n", + " \n", + " \n", + " #Angioectasia of the oral mucosa #Angioectasia of the oral mucous membrane #Spider veins of the oral mucosa #Telangiectasia of the oral mucous membrane\n", + " definition of HP:0007428 (Telangiectasia of the oral mucosa)\n", + " \n", + " \n", + " Parakeratosis\n", + " definition of HP:0001036 (Parakeratosis)\n", + " \n", + " \n", + " Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes.\n", + " definition of HP:0001036 (Parakeratosis)\n", + " \n", + " \n", + " Focal impaired awareness emotional seizure with laughing\n", + " definition of HP:0032750 (Focal impaired awareness emotional seizure with laughing)\n", + " \n", + " \n", + " Focal emotional seizure with laughing in which awareness is partially or fully impaired at some point during the seizure.\n", + " definition of HP:0032750 (Focal impaired awareness emotional seizure with laughing)\n", + " \n", + " \n", + " Advanced ossification of the humeral epiphysis\n", + " definition of HP:0003893 (Advanced ossification of the humeral epiphysis)\n", + " \n", + " \n", + " Ossification of the humeral epiphysis at an earlier age than normal.\n", + " definition of HP:0003893 (Advanced ossification of the humeral epiphysis)\n", + " \n", + " \n", + " #Accelerated maturation of end part of long bone in upper arm\n", + " definition of HP:0003893 (Advanced ossification of the humeral epiphysis)\n", + " \n", + " \n", + " Impaired thrombin-induced platelet aggregation\n", + " definition of HP:0011872 (Impaired thrombin-induced platelet aggregation)\n", + " \n", + " \n", + " Abnormal response to thrombin or thrombin mimetics as manifested by reduced or lacking aggregation of platelets upon addition of thrombin (or thrombin mimetics).\n", + " definition of HP:0011872 (Impaired thrombin-induced platelet aggregation)\n", + " \n", + " \n", + " Peripapillary chorioretinal atrophy\n", + " definition of HP:0007950 (Peripapillary chorioretinal atrophy)\n", + " \n", + " \n", + " Chorioretinal atrophy concentrated around the optic papilla (i.e., the optic nerve head).\n", + " definition of HP:0007950 (Peripapillary chorioretinal atrophy)\n", + " \n", + " \n", + " Curved distal toe phalanx\n", + " definition of HP:0010188 (Curved distal toe phalanx)\n", + " \n", + " \n", + " A deviation from the normal straight form of one or more distal toe phalanges.\n", + " definition of HP:0010188 (Curved distal toe phalanx)\n", + " \n", + " \n", + " #Curved distal phalanges of the toes #Curved outermost bone of the toe\n", + " definition of HP:0010188 (Curved distal toe phalanx)\n", + " \n", + " \n", + " Advanced ossification of the hand bones\n", + " definition of HP:0004051 (Advanced ossification of the hand bones)\n", + " \n", + " \n", + " Ossification of hand bones at an earlier age than normal.\n", + " definition of HP:0004051 (Advanced ossification of the hand bones)\n", + " \n", + " \n", + " Bone fracture\n", + " definition of HP:0020110 (Bone fracture)\n", + " \n", + " \n", + " A partial or complete breakage of the continuity of a bone.\n", + " definition of HP:0020110 (Bone fracture)\n", + " \n", + " \n", + " Abnormal involuntary eye movements\n", + " definition of HP:0012547 (Abnormal involuntary eye movements)\n", + " \n", + " \n", + " Anomalous movements of the eyes that occur without the subject wanting them to happen.\n", + " definition of HP:0012547 (Abnormal involuntary eye movements)\n", + " \n", + " \n", + " Umbilical vein varix\n", + " definition of HP:0030656 (Umbilical vein varix)\n", + " \n", + " \n", + " Focal dilation of the umbilical vein.\n", + " definition of HP:0030656 (Umbilical vein varix)\n", + " \n", + " \n", + " Intraoral laceration\n", + " definition of HP:0034417 (Intraoral laceration)\n", + " \n", + " \n", + " A wound of the mucosa within the oral cavity covering lips, tongue, palate, gingiva, pharynx, or retropharynx.\n", + " definition of HP:0034417 (Intraoral laceration)\n", + " \n", + " \n", + " #Intraoral lacerations\n", + " definition of HP:0034417 (Intraoral laceration)\n", + " \n", + " \n", + " Tachycardia\n", + " definition of HP:0001649 (Tachycardia)\n", + " \n", + " \n", + " A rapid heartrate that exceeds the range of the normal resting heartrate for age.\n", + " definition of HP:0001649 (Tachycardia)\n", + " \n", + " \n", + " #Fast heart rate #Heart racing #Racing heart\n", + " definition of HP:0001649 (Tachycardia)\n", + " \n", + " \n", + " Reduced hematocrit\n", + " definition of HP:0031851 (Reduced hematocrit)\n", + " \n", + " \n", + " A reduction below the normal ratio of the volume of red blood cells to the total volume of blood.\n", + " definition of HP:0031851 (Reduced hematocrit)\n", + " \n", + " \n", + " #Low hematocrit #Reduced Hct\n", + " definition of HP:0031851 (Reduced hematocrit)\n", + " \n", + " \n", + " Cervical intraepithelial neoplasia\n", + " definition of HP:0032242 (Cervical intraepithelial neoplasia)\n", + " \n", + " \n", + " A precancerous condition characterized by dysplasia of the cervical epithelium. Cervical intraepithelial neoplasia (CIN) 1, 2 and 3 based on its relationship with the prognosis. CIN 1 is mild dysplasia, which is mostly observed because it disappears as part of its natural course. CIN 3 includes severe dysplasia and carcinoma in situ, and management involves treatment because it is highly likely to develop into invasive cancer.\n", + " definition of HP:0032242 (Cervical intraepithelial neoplasia)\n", + " \n", + " \n", + " Semilobar holoprosencephaly\n", + " definition of HP:0002507 (Semilobar holoprosencephaly)\n", + " \n", + " \n", + " A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly.\n", + " definition of HP:0002507 (Semilobar holoprosencephaly)\n", + " \n", + " \n", + " Peritonitis\n", + " definition of HP:0002586 (Peritonitis)\n", + " \n", + " \n", + " Inflammation of the peritoneum.\n", + " definition of HP:0002586 (Peritonitis)\n", + " \n", + " \n", + " #Inflammation of the peritoneum\n", + " definition of HP:0002586 (Peritonitis)\n", + " \n", + " \n", + " Reduced phosphoserine phosphatase activity in cultured fibroblasts\n", + " definition of HP:6000080 (Reduced phosphoserine phosphatase activity in cultured fibroblasts)\n", + " \n", + " \n", + " Activity of phosphoserine phosphatase below the lower limit of normal in cultured fibroblasts.\n", + " definition of HP:6000080 (Reduced phosphoserine phosphatase activity in cultured fibroblasts)\n", + " \n", + " \n", + " High palate\n", + " definition of HP:0000218 (High palate)\n", + " \n", + " \n", + " Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).\n", + " definition of HP:0000218 (High palate)\n", + " \n", + " \n", + " #Elevated palate #High arched palate #High palate #High, arched palate #High-arched palate #Increased palatal height #Palate high-arched #Palate, high-arched\n", + " definition of HP:0000218 (High palate)\n", + " \n", + " \n", + " Hypersensitivity pneumonitis\n", + " definition of HP:0006516 (Hypersensitivity pneumonitis)\n", + " \n", + " \n", + " Hypersensitivity pneumonitis involves inhalation of an antigen. This leads to an exaggerated immune response and a following inflammation of the alveoli within the lungs. The main feature of chronic hypersensitivity pneumonitis on lung biopsies is expansion of the interstitium by lymphocytes accompanied by an occasional multinucleated giant cell or loose granuloma. After exposure to the provoking antigen, following symptoms can be seen: fever, chills, malaise, cough, hemoptysis, chest tightness, dyspnea, rash, swelling and headache and can be completely reversible, based on the duration of the illness, categorized as acute (HP:0011009), subacute (HP:0011011), and chronic (HP:0011010).\n", + " definition of HP:0006516 (Hypersensitivity pneumonitis)\n", + " \n", + " \n", + " Clavicular sclerosis\n", + " definition of HP:0100923 (Clavicular sclerosis)\n", + " \n", + " \n", + " An increase in bone density within the clavicle.\n", + " definition of HP:0100923 (Clavicular sclerosis)\n", + " \n", + " \n", + " #Increased bone density in collarbone #Osteosclerosis of the clavicle\n", + " definition of HP:0100923 (Clavicular sclerosis)\n", + " \n", + " \n", + " Mucopolysacchariduria\n", + " definition of HP:0008155 (Mucopolysacchariduria)\n", + " \n", + " \n", + " Excessive amounts of mucopolysaccharide in the urine.\n", + " definition of HP:0008155 (Mucopolysacchariduria)\n", + " \n", + " \n", + " Thickened cortex of bones\n", + " definition of HP:0100039 (Thickened cortex of bones)\n", + " \n", + " \n", + " An Abnormality of cortical bone leading to an abnormal thickness of the cortex of affected bones.\n", + " definition of HP:0100039 (Thickened cortex of bones)\n", + " \n", + " \n", + " Testicular mass\n", + " definition of HP:0032404 (Testicular mass)\n", + " \n", + " \n", + " An abnormal bulge or lump in a testis. A testicular mass has a long differential diagnosis including testicular torsion, epididymitis, acute orchitis, strangulated hernia and testicular cancer.\n", + " definition of HP:0032404 (Testicular mass)\n", + " \n", + " \n", + " Cystic liver disease\n", + " definition of HP:0006706 (Cystic liver disease)\n", + " \n", + " \n", + " Abnormal circulating arginine concentration\n", + " definition of HP:0010909 (Abnormal circulating arginine concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of arginine in the blood circulation.\n", + " definition of HP:0010909 (Abnormal circulating arginine concentration)\n", + " \n", + " \n", + " #Abnormality of arginine metabolism\n", + " definition of HP:0010909 (Abnormal circulating arginine concentration)\n", + " \n", + " \n", + " Toe joint contracture\n", + " definition of HP:0034675 (Toe joint contracture)\n", + " \n", + " \n", + " Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of a toe joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.\n", + " definition of HP:0034675 (Toe joint contracture)\n", + " \n", + " \n", + " Oculomotor nerve palsy\n", + " definition of HP:0012246 (Oculomotor nerve palsy)\n", + " \n", + " \n", + " Reduced ability to control the movement of the eye associated with damage to the third cranial nerve (the oculomotor nerve).\n", + " definition of HP:0012246 (Oculomotor nerve palsy)\n", + " \n", + " \n", + " Adult onset sensorineural hearing impairment\n", + " definition of HP:0008615 (Adult onset sensorineural hearing impairment)\n", + " \n", + " \n", + " The presence of sensorineural deafness with late onset.\n", + " definition of HP:0008615 (Adult onset sensorineural hearing impairment)\n", + " \n", + " \n", + " #Late sensorineural hearing loss #Sensorineural deafness, late-onset\n", + " definition of HP:0008615 (Adult onset sensorineural hearing impairment)\n", + " \n", + " \n", + " Short phalanx of the 2nd toe\n", + " definition of HP:0010431 (Short phalanx of the 2nd toe)\n", + " \n", + " \n", + " Reduced length of one or more phalanx of second toe as a result of developmental hypoplasia.\n", + " definition of HP:0010431 (Short phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Hypoplastic/small phalanges of the 2nd toe #Short 2nd toe bone #Short phalanx of the second toe\n", + " definition of HP:0010431 (Short phalanx of the 2nd toe)\n", + " \n", + " \n", + " Decreased lacrimation\n", + " definition of HP:0000633 (Decreased lacrimation)\n", + " \n", + " \n", + " Abnormally decreased lacrimation, that is, reduced ability to produce tears.\n", + " definition of HP:0000633 (Decreased lacrimation)\n", + " \n", + " \n", + " #Decreased tear secretion\n", + " definition of HP:0000633 (Decreased lacrimation)\n", + " \n", + " \n", + " Absent lacrimal punctum\n", + " definition of HP:0001092 (Absent lacrimal punctum)\n", + " \n", + " \n", + " No identifiable superior and/or inferior lacrimal punctum.\n", + " definition of HP:0001092 (Absent lacrimal punctum)\n", + " \n", + " \n", + " #Absent lacrimal gland puncta #Absent lacrimal openings #Absent lacrimal puncta #Aplasia of lacrimal puncta #Lacrimal puncta aplasia #Lacrimal punctum, absence\n", + " definition of HP:0001092 (Absent lacrimal punctum)\n", + " \n", + " \n", + " Steatocystoma multiplex\n", + " definition of HP:0012035 (Steatocystoma multiplex)\n", + " \n", + " \n", + " Multiple, localized or widespread, asymptomatic or inflammatory dermal cysts involving the pilosebaceous units. Lesions can appear anywhere on the body, but steatocystoma multiplex is more commonly involved with those areas of the skin with a high density of developed pilosebaceous units (e.g., the axilla, groin, neck, and proximal extremities).\n", + " definition of HP:0012035 (Steatocystoma multiplex)\n", + " \n", + " \n", + " Neonatal electro-clinical clonic seizure\n", + " definition of HP:0032814 (Neonatal electro-clinical clonic seizure)\n", + " \n", + " \n", + " Neonatal electro-clinical clonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is a regularly repeating jerking involving the same muscle groups; it can be symmetric or asymmetric.\n", + " definition of HP:0032814 (Neonatal electro-clinical clonic seizure)\n", + " \n", + " \n", + " #Neonatal electroclinical clonic seizure\n", + " definition of HP:0032814 (Neonatal electro-clinical clonic seizure)\n", + " \n", + " \n", + " Elevated CSF chitotriosidase 1 concentration\n", + " definition of HP:0032652 (Elevated CSF chitotriosidase 1 concentration)\n", + " \n", + " \n", + " Increased concentration of chitotriosidase 1 in cerebrospinal fluid.\n", + " definition of HP:0032652 (Elevated CSF chitotriosidase 1 concentration)\n", + " \n", + " \n", + " #Elevated CSF chitotriosidase 1 level\n", + " definition of HP:0032652 (Elevated CSF chitotriosidase 1 concentration)\n", + " \n", + " \n", + " Temporal cortex localization\n", + " definition of HP:6000850 (Temporal cortex localization)\n", + " \n", + " \n", + " Localization to or predominance in the temporal cortex of the brain.\n", + " definition of HP:6000850 (Temporal cortex localization)\n", + " \n", + " \n", + " Elevated urinary 3-hydroxybutyric acid\n", + " definition of HP:0040155 (Elevated urinary 3-hydroxybutyric acid)\n", + " \n", + " \n", + " An increased amount of 3-hydroxybutyric acid in the urine.\n", + " definition of HP:0040155 (Elevated urinary 3-hydroxybutyric acid)\n", + " \n", + " \n", + " Spastic monoplegia\n", + " definition of HP:6000316 (Spastic monoplegia)\n", + " \n", + " \n", + " Spastic weakness found in only one upper or lower extremity.\n", + " definition of HP:6000316 (Spastic monoplegia)\n", + " \n", + " \n", + " Ventricular couplet\n", + " definition of HP:0034039 (Ventricular couplet)\n", + " \n", + " \n", + " Two consecutive premature ventricular contractions (PVCs) with no intervening normal beats.\n", + " definition of HP:0034039 (Ventricular couplet)\n", + " \n", + " \n", + " #Doublet premature ventricular contractions\n", + " definition of HP:0034039 (Ventricular couplet)\n", + " \n", + " \n", + " Prolonged NREM sleep\n", + " definition of HP:5200363 (Prolonged NREM sleep)\n", + " \n", + " \n", + " Abnormal penile discharge\n", + " definition of HP:6000108 (Abnormal penile discharge)\n", + " \n", + " \n", + " Fluid that originates from the urethra that is not urine, pre-ejaculate or semen.\n", + " definition of HP:6000108 (Abnormal penile discharge)\n", + " \n", + " \n", + " #Abnormal urethral discharge\n", + " definition of HP:6000108 (Abnormal penile discharge)\n", + " \n", + " \n", + " Toe dactylitis\n", + " definition of HP:0031091 (Toe dactylitis)\n", + " \n", + " \n", + " Toes appear swollen and plump owing to inflammation of the complete toe.\n", + " definition of HP:0031091 (Toe dactylitis)\n", + " \n", + " \n", + " #Sausage toes\n", + " definition of HP:0031091 (Toe dactylitis)\n", + " \n", + " \n", + " Abnormal cervical spine morphology\n", + " definition of HP:0046508 (Abnormal cervical spine morphology)\n", + " \n", + " \n", + " Any morphological abnormality of the cervical vertebral column.\n", + " definition of HP:0046508 (Abnormal cervical spine morphology)\n", + " \n", + " \n", + " Abnormal small intestine morphology\n", + " definition of HP:0002244 (Abnormal small intestine morphology)\n", + " \n", + " \n", + " A structural abnormality of the small intestine.\n", + " definition of HP:0002244 (Abnormal small intestine morphology)\n", + " \n", + " \n", + " #Abnormality of the small intestine\n", + " definition of HP:0002244 (Abnormal small intestine morphology)\n", + " \n", + " \n", + " Abnormal level of lymph-node cellular CD19 expression\n", + " definition of HP:0020287 (Abnormal level of lymph-node cellular CD19 expression)\n", + " \n", + " \n", + " Detection of an abnormal level of CD19 on the cell(s) of interest in a lymph node with the use of anti-CD19 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry).\n", + " definition of HP:0020287 (Abnormal level of lymph-node cellular CD19 expression)\n", + " \n", + " \n", + " Heterotopic dermal ossification\n", + " definition of HP:6000071 (Heterotopic dermal ossification)\n", + " \n", + " \n", + " Formation of abnormal, extraskeletal bony tissue in the dermis (i.e., the layer of skin that lies beneath the epidermis and above the subcutaneous layer).\n", + " definition of HP:6000071 (Heterotopic dermal ossification)\n", + " \n", + " \n", + " Bracket epiphysis of the distal phalanx of the 3rd finger\n", + " definition of HP:0009336 (Bracket epiphysis of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " An abnormality of the distal phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.\n", + " definition of HP:0009336 (Bracket epiphysis of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Bracket shaped end part of the outermost bone of the middle finger\n", + " definition of HP:0009336 (Bracket epiphysis of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Abnormal sixth cranial nerve morphology\n", + " definition of HP:0011348 (Abnormal sixth cranial nerve morphology)\n", + " \n", + " \n", + " Any structural abnormality of the abducens nerve.\n", + " definition of HP:0011348 (Abnormal sixth cranial nerve morphology)\n", + " \n", + " \n", + " #Abnormal abducens nerve morphology #Abnormality of the sixth cranial nerve\n", + " definition of HP:0011348 (Abnormal sixth cranial nerve morphology)\n", + " \n", + " \n", + " Hemimelia of lower leg\n", + " definition of HP:6000947 (Hemimelia of lower leg)\n", + " \n", + " \n", + " A developmental defect leading to a transverse deficiency with absence of the lower leg (eg tibia and fibula), ankle and foot.\n", + " definition of HP:6000947 (Hemimelia of lower leg)\n", + " \n", + " \n", + " Spotty hypopigmentation\n", + " definition of HP:0005590 (Spotty hypopigmentation)\n", + " \n", + " \n", + " #Patchy depigmentation #Patchy hypopigmentation #Spotty decreased pigmentation\n", + " definition of HP:0005590 (Spotty hypopigmentation)\n", + " \n", + " \n", + " Impaired ability to plan\n", + " definition of HP:0033055 (Impaired ability to plan)\n", + " \n", + " \n", + " Impaired ability to anticipate future events, implement instructions or goals, and develop appropriate steps ahead of time in order to carry out a task or activity.\n", + " definition of HP:0033055 (Impaired ability to plan)\n", + " \n", + " \n", + " #Ineffective planning\n", + " definition of HP:0033055 (Impaired ability to plan)\n", + " \n", + " \n", + " Abnormal migration of corneal endothelium\n", + " definition of HP:0011489 (Abnormal migration of corneal endothelium)\n", + " \n", + " \n", + " Abnormal migration of corneal endothelium.\n", + " definition of HP:0011489 (Abnormal migration of corneal endothelium)\n", + " \n", + " \n", + " Delusional perception\n", + " definition of HP:5200424 (Delusional perception)\n", + " \n", + " \n", + " A true perception, to which a patient attributes a false and usually bizarre meaning or interpretation. It is often a revelatory experience that is sudden and is a profound realization of the delusional belief. It often occurs in the context of delusional mood or atmosphere wherein vague and mysterious hunches or concerns with nebulous meaning evolve into clear, delusional observations, and expresses delusions of reference.\n", + " definition of HP:5200424 (Delusional perception)\n", + " \n", + " \n", + " Fractured distal phalanx of pedal digit 3\n", + " definition of HP:0041181 (Fractured distal phalanx of pedal digit 3)\n", + " \n", + " \n", + " A partial or complete breakage of the distal phalanx of pedal digit 3.\n", + " definition of HP:0041181 (Fractured distal phalanx of pedal digit 3)\n", + " \n", + " \n", + " #bone distal phalanx of pedal digit 3\n", + " definition of HP:0041181 (Fractured distal phalanx of pedal digit 3)\n", + " \n", + " \n", + " Lumbar kyphoscoliosis\n", + " definition of HP:0004619 (Lumbar kyphoscoliosis)\n", + " \n", + " \n", + " Increased intervertebral space\n", + " definition of HP:0030320 (Increased intervertebral space)\n", + " \n", + " \n", + " An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disk space.\n", + " definition of HP:0030320 (Increased intervertebral space)\n", + " \n", + " \n", + " Ileocecal ulcer\n", + " definition of HP:0033433 (Ileocecal ulcer)\n", + " \n", + " \n", + " An erosion of the mucous membrane in the region connecting the ileum and cecum.\n", + " definition of HP:0033433 (Ileocecal ulcer)\n", + " \n", + " \n", + " #Ileo-cecal ulcer\n", + " definition of HP:0033433 (Ileocecal ulcer)\n", + " \n", + " \n", + " Abnormal lymph-node germinal center morphology\n", + " definition of HP:0020255 (Abnormal lymph-node germinal center morphology)\n", + " \n", + " \n", + " Any phenotypic abnormality of germinal centers of a lymph node.\n", + " definition of HP:0020255 (Abnormal lymph-node germinal center morphology)\n", + " \n", + " \n", + " Short 5th toe\n", + " definition of HP:0011917 (Short 5th toe)\n", + " \n", + " \n", + " Underdevelopment (hypoplasia) of the fifth toe.\n", + " definition of HP:0011917 (Short 5th toe)\n", + " \n", + " \n", + " #Short fifth toe #Short little toe #Short pinkie toe #Short pinky toe\n", + " definition of HP:0011917 (Short 5th toe)\n", + " \n", + " \n", + " EEG with parietal focal spike waves\n", + " definition of HP:0012012 (EEG with parietal focal spike waves)\n", + " \n", + " \n", + " EEG with focal sharp transient waves in the parietal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.\n", + " definition of HP:0012012 (EEG with parietal focal spike waves)\n", + " \n", + " \n", + " Triangular epiphysis of the distal phalanx of the 5th finger\n", + " definition of HP:0009149 (Triangular epiphysis of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " A triangular appearance of the epiphysis of the distal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.\n", + " definition of HP:0009149 (Triangular epiphysis of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " #Delta-shaped epiphysis of the distal phalanx of the 5th finger #Triangular end part of the outermost bone of little finger #Triangular end part of the outermost bone of pinkie finger #Triangular end part of the outermost bone of pinky finger\n", + " definition of HP:0009149 (Triangular epiphysis of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " Abnormal CSF arginine concentration\n", + " definition of HP:0500202 (Abnormal CSF arginine concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of arginine in the cerebrospinal fluid.\n", + " definition of HP:0500202 (Abnormal CSF arginine concentration)\n", + " \n", + " \n", + " #Abnormal arginine levels in cerebrospinal fluid\n", + " definition of HP:0500202 (Abnormal CSF arginine concentration)\n", + " \n", + " \n", + " Sinus venosus atrial septal defect\n", + " definition of HP:0011567 (Sinus venosus atrial septal defect)\n", + " \n", + " \n", + " An interatrial communication caused by a deficiency of the common wall between the superior vena cava (SVC) and the right-sided pulmonary veins. SVASD is commonly associated with anomalous pulmonary venous connection (APVC) of some or all of the pulmonary veins, which produces additional left-to-right shunting.\n", + " definition of HP:0011567 (Sinus venosus atrial septal defect)\n", + " \n", + " \n", + " Sclerotic foci in hand bones\n", + " definition of HP:0004289 (Sclerotic foci in hand bones)\n", + " \n", + " \n", + " Reduced muscle telethonin level\n", + " definition of HP:0034683 (Reduced muscle telethonin level)\n", + " \n", + " \n", + " Amount of telethonin protein expression in muscle tissue below lower limit of normal. Telethonin is a 19-kDa sarcomeric protein, localized to the Z-disc of skeletal and cardiac muscles.\n", + " definition of HP:0034683 (Reduced muscle telethonin level)\n", + " \n", + " \n", + " #Muscle biopsy: telethonin low or absent\n", + " definition of HP:0034683 (Reduced muscle telethonin level)\n", + " \n", + " \n", + " Polyminimyoclonus\n", + " definition of HP:0031986 (Polyminimyoclonus)\n", + " \n", + " \n", + " Minipolymyoclonus or polyminimyoclonus is a hyperkinetic movement disorder phenomenology characterized by intermittent, low-amplitude, arrhythmic movements of the hands, commonly of several fingers, with amplitudes just sufficient to produce visible and palpable movements of the joints. It is mostly noticed while the individual is maintaining a posture (commonly outstretched hands) or during action (especially the initial phase of movement).\n", + " definition of HP:0031986 (Polyminimyoclonus)\n", + " \n", + " \n", + " #Minipolymyoclonus\n", + " definition of HP:0031986 (Polyminimyoclonus)\n", + " \n", + " \n", + " Abnormality of the epiphyses of the 4th toe\n", + " definition of HP:0010335 (Abnormality of the epiphyses of the 4th toe)\n", + " \n", + " \n", + " #Abnormality of the end part of the 4th toe bone\n", + " definition of HP:0010335 (Abnormality of the epiphyses of the 4th toe)\n", + " \n", + " \n", + " Dicarboxylic aciduria\n", + " definition of HP:0003215 (Dicarboxylic aciduria)\n", + " \n", + " \n", + " An increased concentration of dicarboxylic acid in the urine.\n", + " definition of HP:0003215 (Dicarboxylic aciduria)\n", + " \n", + " \n", + " #Elevated urinary dicarboxylic acid level\n", + " definition of HP:0003215 (Dicarboxylic aciduria)\n", + " \n", + " \n", + " Pancreas divisum\n", + " definition of HP:0030994 (Pancreas divisum)\n", + " \n", + " \n", + " A congenital anomaly of the pancreas that results from failed fusion of the dorsal and ventral ducts during embyological development. Three variants have been described: type 1 or classical divisum in which there is total failure of fusion; type 2 in which dorsal drainage is dominant in the absence of the duct of Wirsung; and type 3 or incomplete divisum where a small communicating branch is present.\n", + " definition of HP:0030994 (Pancreas divisum)\n", + " \n", + " \n", + " Abnormal myelination\n", + " definition of HP:0012447 (Abnormal myelination)\n", + " \n", + " \n", + " Any anomaly in the process by which myelin sheaths are formed and maintained around neurons.\n", + " definition of HP:0012447 (Abnormal myelination)\n", + " \n", + " \n", + " Coarse facial features\n", + " definition of HP:0000280 (Coarse facial features)\n", + " \n", + " \n", + " Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.\n", + " definition of HP:0000280 (Coarse facial features)\n", + " \n", + " \n", + " #Coarse face #Coarse facial appearance #Coarse facial features #Coarse facies\n", + " definition of HP:0000280 (Coarse facial features)\n", + " \n", + " \n", + " Reduced MHC II surface expression\n", + " definition of HP:0031390 (Reduced MHC II surface expression)\n", + " \n", + " \n", + " A reduction from the normal level of major histocompatibility complex class II molecules expressed at the cell surface.\n", + " definition of HP:0031390 (Reduced MHC II surface expression)\n", + " \n", + " \n", + " Absent respiratory ciliary axoneme radial spokes\n", + " definition of HP:0012267 (Absent respiratory ciliary axoneme radial spokes)\n", + " \n", + " \n", + " Absence of the radial spokes of the axoneme of the respiratory cilium.\n", + " definition of HP:0012267 (Absent respiratory ciliary axoneme radial spokes)\n", + " \n", + " \n", + " Hepatic encephalopathy\n", + " definition of HP:0002480 (Hepatic encephalopathy)\n", + " \n", + " \n", + " Central nervous system dysfunction in association with liver failure and characterized clinically (depending on degree of severity) by lethargy, confusion, nystagmus, decorticate posturing, spasticity, and bilateral Babinski reflexes.\n", + " definition of HP:0002480 (Hepatic encephalopathy)\n", + " \n", + " \n", + " Opportunistic infection\n", + " definition of HP:0031690 (Opportunistic infection)\n", + " \n", + " \n", + " An infection that is caused by a pathogen that would generally not be able to cause an infection in a host with a normal immune system. Such pathogens take advantage of the opportunity, so to speak, that is provided by a weakened immune system.\n", + " definition of HP:0031690 (Opportunistic infection)\n", + " \n", + " \n", + " Abnormality of the epiphysis of the 1st metacarpal\n", + " definition of HP:0010014 (Abnormality of the epiphysis of the 1st metacarpal)\n", + " \n", + " \n", + " In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). The epiphysis of the first metacarpal is localized at the proximal end (as seen in the proximal phalanges of the other digits), whereas the epiphyses of the other metacarpal bones are located at the distal end. This term applies if the epiphysis of the 1st metacarpal is in any way abnormal, referring to age and gender depending norms, as seen on x-rays.\n", + " definition of HP:0010014 (Abnormality of the epiphysis of the 1st metacarpal)\n", + " \n", + " \n", + " #Abnormality of the end part of the 1st long bone of hand\n", + " definition of HP:0010014 (Abnormality of the epiphysis of the 1st metacarpal)\n", + " \n", + " \n", + " Positive Mycobacterium avium sputum culture\n", + " definition of HP:0430108 (Positive Mycobacterium avium sputum culture)\n", + " \n", + " \n", + " Growth of mycobacterium avium in a sputum culture.\n", + " definition of HP:0430108 (Positive Mycobacterium avium sputum culture)\n", + " \n", + " \n", + " Question mark ear\n", + " definition of HP:0030022 (Question mark ear)\n", + " \n", + " \n", + " Cleft between the helix and the lobe.\n", + " definition of HP:0030022 (Question mark ear)\n", + " \n", + " \n", + " #Constricted ear #Cosman ear #Question mark ear #Question mark ears\n", + " definition of HP:0030022 (Question mark ear)\n", + " \n", + " \n", + " Aplasia involving bones of the extremities\n", + " definition of HP:0009825 (Aplasia involving bones of the extremities)\n", + " \n", + " \n", + " #Absent bones of the extremities\n", + " definition of HP:0009825 (Aplasia involving bones of the extremities)\n", + " \n", + " \n", + " Chvostek sign\n", + " definition of HP:0031990 (Chvostek sign)\n", + " \n", + " \n", + " A contraction of ipsilateral facial muscles subsequent to percussion over the facial nerve.\n", + " definition of HP:0031990 (Chvostek sign)\n", + " \n", + " \n", + " Interlobular vein intima/media coagulative necrosis\n", + " definition of HP:0033971 (Interlobular vein intima/media coagulative necrosis)\n", + " \n", + " \n", + " A type of interlobular vein intima/media necrosis in which the dead (necrotic) tissue retains the outlines of the dead structures.\n", + " definition of HP:0033971 (Interlobular vein intima/media coagulative necrosis)\n", + " \n", + " \n", + " Broad distal hallux\n", + " definition of HP:0008111 (Broad distal hallux)\n", + " \n", + " \n", + " #Broad distal big toe\n", + " definition of HP:0008111 (Broad distal hallux)\n", + " \n", + " \n", + " Elevated CSF tetrahydrobiopterin level\n", + " definition of HP:6000822 (Elevated CSF tetrahydrobiopterin level)\n", + " \n", + " \n", + " Concentration of tetrahydrobiopterin in the cerebrospinal fluid (CSF) above the upper limit of normal.\n", + " definition of HP:6000822 (Elevated CSF tetrahydrobiopterin level)\n", + " \n", + " \n", + " Fibrocellular crescent\n", + " definition of HP:0033318 (Fibrocellular crescent)\n", + " \n", + " \n", + " A type of glomerular crescent characterized by extracapillary hypercellularity of more than 2 cell layers and involving over 10% of the capsular circumference, composed of 25% to 75% cells with or without fibrin, and the remainder fibrous matrix.\n", + " definition of HP:0033318 (Fibrocellular crescent)\n", + " \n", + " \n", + " Low 10-minute APGAR score\n", + " definition of HP:0033467 (Low 10-minute APGAR score)\n", + " \n", + " \n", + " A normal APGAR score can be coded as 'not Low 10-minute APGAR score'.\n", + " definition of HP:0033467 (Low 10-minute APGAR score)\n", + " \n", + " \n", + " Xanthine nephrolithiasis\n", + " definition of HP:0000804 (Xanthine nephrolithiasis)\n", + " \n", + " \n", + " The presence of xanthine-containing calculi (stones) in the kidneys.\n", + " definition of HP:0000804 (Xanthine nephrolithiasis)\n", + " \n", + " \n", + " #Urinary xanthine stones #Xanthine stones\n", + " definition of HP:0000804 (Xanthine nephrolithiasis)\n", + " \n", + " \n", + " Posterior crocodile shagreen of the cornea\n", + " definition of HP:0032935 (Posterior crocodile shagreen of the cornea)\n", + " \n", + " \n", + " Grayish, polygonal pattern of opacities with intervening clear zones across the central cornea that resembles crocodile skin.\n", + " definition of HP:0032935 (Posterior crocodile shagreen of the cornea)\n", + " \n", + " \n", + " Decreased circulating ferritin concentration\n", + " definition of HP:0012343 (Decreased circulating ferritin concentration)\n", + " \n", + " \n", + " Abnormally reduced concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood.\n", + " definition of HP:0012343 (Decreased circulating ferritin concentration)\n", + " \n", + " \n", + " #Decreased plasma ferritin #Decreased serum ferritin #Low ferritin level #Reduced serum ferritin\n", + " definition of HP:0012343 (Decreased circulating ferritin concentration)\n", + " \n", + " \n", + " Nodular goiter\n", + " definition of HP:0005994 (Nodular goiter)\n", + " \n", + " \n", + " Enlargement of the thyroid gland related to one or more nodules in the thyroid gland.\n", + " definition of HP:0005994 (Nodular goiter)\n", + " \n", + " \n", + " #Nodular goitre\n", + " definition of HP:0005994 (Nodular goiter)\n", + " \n", + " \n", + " Abnormal circulating albumin concentration\n", + " definition of HP:0012116 (Abnormal circulating albumin concentration)\n", + " \n", + " \n", + " Deviation from normal concentration of albumin in the blood.\n", + " definition of HP:0012116 (Abnormal circulating albumin concentration)\n", + " \n", + " \n", + " #Abnormal albumin level\n", + " definition of HP:0012116 (Abnormal circulating albumin concentration)\n", + " \n", + " \n", + " Anti-beta fodrin antibody positivity\n", + " definition of HP:6000475 (Anti-beta fodrin antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a component of beta-fodrin.\n", + " definition of HP:6000475 (Anti-beta fodrin antibody positivity)\n", + " \n", + " \n", + " Osteolytic defects of the phalanges of the 4th finger\n", + " definition of HP:0004195 (Osteolytic defects of the phalanges of the 4th finger)\n", + " \n", + " \n", + " Osteolytic defects of the phalanges of the 4th (ring) finger.\n", + " definition of HP:0004195 (Osteolytic defects of the phalanges of the 4th finger)\n", + " \n", + " \n", + " Absent natural killer cells\n", + " definition of HP:0040219 (Absent natural killer cells)\n", + " \n", + " \n", + " Lack of natural killer cells, a type of lymphocyte in the innate immune system that contains cytoplasmic granzymes, i.e., small granules with perforin and proteases that allow natural killer cells to form pores in the cell membrane of the target cell through which the granzymes and associated molecules can enter, inducing apoptosis.\n", + " definition of HP:0040219 (Absent natural killer cells)\n", + " \n", + " \n", + " #Absent NK cells\n", + " definition of HP:0040219 (Absent natural killer cells)\n", + " \n", + " \n", + " Hepatic xanthomatosis\n", + " definition of HP:0034621 (Hepatic xanthomatosis)\n", + " \n", + " \n", + " Lipid deposits localized within the liver. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia.\n", + " definition of HP:0034621 (Hepatic xanthomatosis)\n", + " \n", + " \n", + " #Hepatic xanthomas\n", + " definition of HP:0034621 (Hepatic xanthomatosis)\n", + " \n", + " \n", + " Racing thoughts\n", + " definition of HP:0033844 (Racing thoughts)\n", + " \n", + " \n", + " An inner sense (from the self) that thoughts are moving abnormally fast and in a manner that the individual typically feels that the rate is beyond their control, i.e. they feel unable to slow the rate of thoughts. Racing thoughts by themselves have a linear progression, following a line of thinking or logic, which distinguishes racing thoughts from flight of ideas. Racing thoughts may however, co-occur with or be independent from flight of ideas, they may be associated with pressured speech or be an internal perception of the rate of thinking. The core element being the rate of the thoughts themselves.\n", + " definition of HP:0033844 (Racing thoughts)\n", + " \n", + " \n", + " #Racing thoughts #Tachyphrenia\n", + " definition of HP:0033844 (Racing thoughts)\n", + " \n", + " \n", + " Elevated intestinal alkaline phosphatase\n", + " definition of HP:0010681 (Elevated intestinal alkaline phosphatase)\n", + " \n", + " \n", + " An abnormally increased level of alkaline phosphatase, intestinal type in the blood.\n", + " definition of HP:0010681 (Elevated intestinal alkaline phosphatase)\n", + " \n", + " \n", + " #Elevated intestinal ALP\n", + " definition of HP:0010681 (Elevated intestinal alkaline phosphatase)\n", + " \n", + " \n", + " Onycholysis of distal fingernails\n", + " definition of HP:0008400 (Onycholysis of distal fingernails)\n", + " \n", + " \n", + " Detachment of the distal fingernails from the nail bed.\n", + " definition of HP:0008400 (Onycholysis of distal fingernails)\n", + " \n", + " \n", + " #Detachment of outermost fingernails\n", + " definition of HP:0008400 (Onycholysis of distal fingernails)\n", + " \n", + " \n", + " Gaze-evoked nystagmus\n", + " definition of HP:0000640 (Gaze-evoked nystagmus)\n", + " \n", + " \n", + " Nystagmus made apparent by looking to the right or to the left.\n", + " definition of HP:0000640 (Gaze-evoked nystagmus)\n", + " \n", + " \n", + " Dystonia\n", + " definition of HP:0001332 (Dystonia)\n", + " \n", + " \n", + " An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.\n", + " definition of HP:0001332 (Dystonia)\n", + " \n", + " \n", + " #Dystonic movements\n", + " definition of HP:0001332 (Dystonia)\n", + " \n", + " \n", + " Vocal cord polyp\n", + " definition of HP:0032041 (Vocal cord polyp)\n", + " \n", + " \n", + " A small growth on a vocal cord that may appear as pedunculated or sessile and have varying size, shape, and color.\n", + " definition of HP:0032041 (Vocal cord polyp)\n", + " \n", + " \n", + " Decreased beta-glucocerebrosidase level\n", + " definition of HP:0003656 (Decreased beta-glucocerebrosidase level)\n", + " \n", + " \n", + " Reduced level of the enzyme beta-glucosidase, an enzyme that catalyzes the hydrolysis of glucosylceramide into ceramide and glucose.\n", + " definition of HP:0003656 (Decreased beta-glucocerebrosidase level)\n", + " \n", + " \n", + " #Decreased lysosomal acid glucosylceramidase activity\n", + " definition of HP:0003656 (Decreased beta-glucocerebrosidase level)\n", + " \n", + " \n", + " Reduced circulating leukotriene C4 concentration\n", + " definition of HP:0030390 (Reduced circulating leukotriene C4 concentration)\n", + " \n", + " \n", + " An abnormally decreased concentration of leukotriene C4 in the blood circulation.\n", + " definition of HP:0030390 (Reduced circulating leukotriene C4 concentration)\n", + " \n", + " \n", + " Renal arteriolar intraluminal thrombi\n", + " definition of HP:0033894 (Renal arteriolar intraluminal thrombi)\n", + " \n", + " \n", + " Mixture of fibrin, red blood cells, platelets partly or completely occluding the vascular lumen of the arterioles of the kidney.\n", + " definition of HP:0033894 (Renal arteriolar intraluminal thrombi)\n", + " \n", + " \n", + " Lower thoracic interpediculate narrowness\n", + " definition of HP:0008470 (Lower thoracic interpediculate narrowness)\n", + " \n", + " \n", + " A reduction of the distance between the lower thoracic vertebral pedicles.\n", + " definition of HP:0008470 (Lower thoracic interpediculate narrowness)\n", + " \n", + " \n", + " #Narrowness of interpediculate distances in lower thoracic regions\n", + " definition of HP:0008470 (Lower thoracic interpediculate narrowness)\n", + " \n", + " \n", + " Aplasia of the proximal phalanx of the 4th finger\n", + " definition of HP:0009298 (Aplasia of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " Absence of the proximal phalanx of the ring (4th) finger.\n", + " definition of HP:0009298 (Aplasia of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " #Absent innermost ring finger bone\n", + " definition of HP:0009298 (Aplasia of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " Nail dysplasia\n", + " definition of HP:0002164 (Nail dysplasia)\n", + " \n", + " \n", + " The presence of developmental dysplasia of the nail.\n", + " definition of HP:0002164 (Nail dysplasia)\n", + " \n", + " \n", + " #Atypical nail growth #Dysplastic nails #Onychodysplasia\n", + " definition of HP:0002164 (Nail dysplasia)\n", + " \n", + " \n", + " Equinus calcaneus\n", + " definition of HP:0008138 (Equinus calcaneus)\n", + " \n", + " \n", + " Abnormal plantar flexion of the calcaneus relative to the longitudinal axis of the tibia. This results in the angle between the long axis of the tibia and the long axis of the heel bone (calcaneus) being greater than 90 degrees.\n", + " definition of HP:0008138 (Equinus calcaneus)\n", + " \n", + " \n", + " #Equinus deformity of the calcaneus #Hindfoot equinus\n", + " definition of HP:0008138 (Equinus calcaneus)\n", + " \n", + " \n", + " Impaired growth-hormone response to insulin stimulation test\n", + " definition of HP:0031079 (Impaired growth-hormone response to insulin stimulation test)\n", + " \n", + " \n", + " Failure of growth hormone levels to respond adequately (by increasing) to the insulin tolerance test (ITT).\n", + " definition of HP:0031079 (Impaired growth-hormone response to insulin stimulation test)\n", + " \n", + " \n", + " Recurrent, involuntary, and intrusive distressing memories\n", + " definition of HP:0032937 (Recurrent, involuntary, and intrusive distressing memories)\n", + " \n", + " \n", + " After experiencing psychological trauma, individuals may repeatedly encounter sensory-perceptual impressions of the event that intrude into their consciousness involuntarily. These intrusive memories often manifest as visual images (such as mental pictures), but can also involve sounds, smells, tastes, and physical sensations. They are accompanied by a variety of negative emotions linked to the most intense moments of the traumatic memory.\n", + " definition of HP:0032937 (Recurrent, involuntary, and intrusive distressing memories)\n", + " \n", + " \n", + " Knee joint hypermobility\n", + " definition of HP:0045086 (Knee joint hypermobility)\n", + " \n", + " \n", + " The ability of the knee to move past its normal range of motion, (knee hyperextension is greater than 10 degrees).\n", + " definition of HP:0045086 (Knee joint hypermobility)\n", + " \n", + " \n", + " #Knee joint over-flexibility\n", + " definition of HP:0045086 (Knee joint hypermobility)\n", + " \n", + " \n", + " Cortical sclerosis of the iliac wing\n", + " definition of HP:0033701 (Cortical sclerosis of the iliac wing)\n", + " \n", + " \n", + " Increased density related to increased bone mass in the outermost layer (edge) of the iliac wing.\n", + " definition of HP:0033701 (Cortical sclerosis of the iliac wing)\n", + " \n", + " \n", + " Reduced circulating complement concentration\n", + " definition of HP:0004431 (Reduced circulating complement concentration)\n", + " \n", + " \n", + " An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins.\n", + " definition of HP:0004431 (Reduced circulating complement concentration)\n", + " \n", + " \n", + " #Complement deficiency\n", + " definition of HP:0004431 (Reduced circulating complement concentration)\n", + " \n", + " \n", + " Ectropion of lower eyelids\n", + " definition of HP:0007651 (Ectropion of lower eyelids)\n", + " \n", + " \n", + " #Lower eyelid turned out\n", + " definition of HP:0007651 (Ectropion of lower eyelids)\n", + " \n", + " \n", + " Anti-LAD-1 antibody positivity\n", + " definition of HP:4000027 (Anti-LAD-1 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against LAD-1, which is the soluble 120 kDa ectodomain of BP180.\n", + " definition of HP:4000027 (Anti-LAD-1 antibody positivity)\n", + " \n", + " \n", + " Punctate pontine perivascular enhancement\n", + " definition of HP:6001037 (Punctate pontine perivascular enhancement)\n", + " \n", + " \n", + " Multiple punctate (speckled, patchy spot-like) and/or curvilinear areas of gadolinium enhancement distributed around blood vessels in the pons.\n", + " definition of HP:6001037 (Punctate pontine perivascular enhancement)\n", + " \n", + " \n", + " Nasolacrimal sac granuloma\n", + " definition of HP:0500035 (Nasolacrimal sac granuloma)\n", + " \n", + " \n", + " A mass of granulation tissue in response to chronic dacryocystitis as polypoid formations or they follow accidental injury, from probing and as a reaction to retained foreign bodies in the sac.\n", + " definition of HP:0500035 (Nasolacrimal sac granuloma)\n", + " \n", + " \n", + " Hand polydactyly\n", + " definition of HP:0001161 (Hand polydactyly)\n", + " \n", + " \n", + " A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.\n", + " definition of HP:0001161 (Hand polydactyly)\n", + " \n", + " \n", + " #Extra finger #Finger polydactyly #Polydactyly of the hand #Supernumerary finger\n", + " definition of HP:0001161 (Hand polydactyly)\n", + " \n", + " \n", + " Increased circulating progesterone\n", + " definition of HP:0031216 (Increased circulating progesterone)\n", + " \n", + " \n", + " An elevated concentration of progesterone in the blood.\n", + " definition of HP:0031216 (Increased circulating progesterone)\n", + " \n", + " \n", + " Hyperemesis gravidarum\n", + " definition of HP:0012188 (Hyperemesis gravidarum)\n", + " \n", + " \n", + " Excessive vomiting in early pregnancy, leading to the loss of 5% or more of body weight.\n", + " definition of HP:0012188 (Hyperemesis gravidarum)\n", + " \n", + " \n", + " Ulnar claw\n", + " definition of HP:0001178 (Ulnar claw)\n", + " \n", + " \n", + " An abnormal hand position characterized by hyperextension of the fourth and fifth fingers at the metacarpophalangeal joints and flexion of the interphalangeal joints of the same fingers such that they are curled towards the palm.\n", + " definition of HP:0001178 (Ulnar claw)\n", + " \n", + " \n", + " Recurrent deep organ abscess formation\n", + " definition of HP:0020093 (Recurrent deep organ abscess formation)\n", + " \n", + " \n", + " Repeated episodes of the formation of abscesses in organs. An abscess is a circumscribed area of pus or necrotic debris in the parenchyma or an organ.\n", + " definition of HP:0020093 (Recurrent deep organ abscess formation)\n", + " \n", + " \n", + " Temporal pattern\n", + " definition of HP:0011008 (Temporal pattern)\n", + " \n", + " \n", + " The speed at which disease manifestations appear and develop.\n", + " definition of HP:0011008 (Temporal pattern)\n", + " \n", + " \n", + " #Speed of onset\n", + " definition of HP:0011008 (Temporal pattern)\n", + " \n", + " \n", + " Positional foot deformity\n", + " definition of HP:0005656 (Positional foot deformity)\n", + " \n", + " \n", + " A foot deformity resulting due to an abnormality affecting the muscle and soft tissue. In contrast if the bones of the foot are affected the term structural foot deformity applies.\n", + " definition of HP:0005656 (Positional foot deformity)\n", + " \n", + " \n", + " Triphalangeal hallux\n", + " definition of HP:0032612 (Triphalangeal hallux)\n", + " \n", + " \n", + " A hallux (big toe) with three phalanges in a single, proximo-distal axis.\n", + " definition of HP:0032612 (Triphalangeal hallux)\n", + " \n", + " \n", + " Spinal dysraphism\n", + " definition of HP:0010301 (Spinal dysraphism)\n", + " \n", + " \n", + " A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life.\n", + " definition of HP:0010301 (Spinal dysraphism)\n", + " \n", + " \n", + " #Incomplete closure of the vertebral arch\n", + " definition of HP:0010301 (Spinal dysraphism)\n", + " \n", + " \n", + " Tectal plate enlargement\n", + " definition of HP:6000284 (Tectal plate enlargement)\n", + " \n", + " \n", + " Abnormal increase in size of the tectal plate (also known as the tectum or the quadrigeminal plate). The tectum is the dorsal portion of the midbrain (brainstem).\n", + " definition of HP:6000284 (Tectal plate enlargement)\n", + " \n", + " \n", + " #Quadrigeminal plate enlargement #Tectal enlargement\n", + " definition of HP:6000284 (Tectal plate enlargement)\n", + " \n", + " \n", + " Expanded metatarsals with widened medullary cavities\n", + " definition of HP:0008102 (Expanded metatarsals with widened medullary cavities)\n", + " \n", + " \n", + " Abnormal circulating vitamin A concentration\n", + " definition of HP:0008372 (Abnormal circulating vitamin A concentration)\n", + " \n", + " \n", + " Concentration of vitamin A in the blood circulation outside limits of normal.\n", + " definition of HP:0008372 (Abnormal circulating vitamin A concentration)\n", + " \n", + " \n", + " Cervical platyspondyly\n", + " definition of HP:0004558 (Cervical platyspondyly)\n", + " \n", + " \n", + " A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the cervical spine.\n", + " definition of HP:0004558 (Cervical platyspondyly)\n", + " \n", + " \n", + " #Flattened cervical vertebral bodies\n", + " definition of HP:0004558 (Cervical platyspondyly)\n", + " \n", + " \n", + " Midline liver\n", + " definition of HP:0034188 (Midline liver)\n", + " \n", + " \n", + " Position of the liver across the middle of the body instead of being in its normal position to the right of the stomach.\n", + " definition of HP:0034188 (Midline liver)\n", + " \n", + " \n", + " Enlarged fossa interpeduncularis\n", + " definition of HP:0100951 (Enlarged fossa interpeduncularis)\n", + " \n", + " \n", + " #Enlarged basal cistern #Enlarged interpeduncular cistern\n", + " definition of HP:0100951 (Enlarged fossa interpeduncularis)\n", + " \n", + " \n", + " Axonal loss\n", + " definition of HP:0003447 (Axonal loss)\n", + " \n", + " \n", + " A reduction in the number of axons in the peripheral nervous system.\n", + " definition of HP:0003447 (Axonal loss)\n", + " \n", + " \n", + " Elevated urinary 3-methylcrotonylglycine level\n", + " definition of HP:0033596 (Elevated urinary 3-methylcrotonylglycine level)\n", + " \n", + " \n", + " An abnormally increased amount of 3-methylcrotonylglycine in the urine.\n", + " definition of HP:0033596 (Elevated urinary 3-methylcrotonylglycine level)\n", + " \n", + " \n", + " Neonatal bilateral symmetric myoclonic seizure\n", + " definition of HP:0032836 (Neonatal bilateral symmetric myoclonic seizure)\n", + " \n", + " \n", + " Neonatal bilateral symmetric myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) that occurs at both sides of the body symmetrically.\n", + " definition of HP:0032836 (Neonatal bilateral symmetric myoclonic seizure)\n", + " \n", + " \n", + " Corneal pterygium\n", + " definition of HP:0034363 (Corneal pterygium)\n", + " \n", + " \n", + " Corneal pterygium is an ocular surface disease characterized mainly by a wing-shaped growth of limbal and conjunctival tissue over the adjacent cornea.\n", + " definition of HP:0034363 (Corneal pterygium)\n", + " \n", + " \n", + " #Surfer's eye #Wing-shaped conjunctiva\n", + " definition of HP:0034363 (Corneal pterygium)\n", + " \n", + " \n", + " Complete duplication of the proximal phalanx of the 3rd toe\n", + " definition of HP:0100413 (Complete duplication of the proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Complete duplication of proximal phalanx of third toe.\n", + " definition of HP:0100413 (Complete duplication of the proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Complete duplication of the innermost 3rd toe bone\n", + " definition of HP:0100413 (Complete duplication of the proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Pulmonary fibrosis\n", + " definition of HP:0002206 (Pulmonary fibrosis)\n", + " \n", + " \n", + " Replacement of normal lung tissues by fibroblasts and collagen.\n", + " definition of HP:0002206 (Pulmonary fibrosis)\n", + " \n", + " \n", + " Aplasia of the 5th metacarpal\n", + " definition of HP:0010046 (Aplasia of the 5th metacarpal)\n", + " \n", + " \n", + " Absence of the fifth long bone of the hand.\n", + " definition of HP:0010046 (Aplasia of the 5th metacarpal)\n", + " \n", + " \n", + " #Absent 5th long bone of hand #Absent 5th metacarpal\n", + " definition of HP:0010046 (Aplasia of the 5th metacarpal)\n", + " \n", + " \n", + " Elevated urinary gamma-glutamylcysteine level\n", + " definition of HP:6000834 (Elevated urinary gamma-glutamylcysteine level)\n", + " \n", + " \n", + " The amount of gamma-glutamylcysteine in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000834 (Elevated urinary gamma-glutamylcysteine level)\n", + " \n", + " \n", + " Sterile abscess\n", + " definition of HP:0025616 (Sterile abscess)\n", + " \n", + " \n", + " An abscess not caused by infection with pyogenic bacteria. Operationally, a sterile abscess is inferred if investigations of an abscess fail to reveal evidence of pathogenic organisms.\n", + " definition of HP:0025616 (Sterile abscess)\n", + " \n", + " \n", + " Chronic decreased circulating IgE concentration\n", + " definition of HP:0033022 (Chronic decreased circulating IgE concentration)\n", + " \n", + " \n", + " A lasting reduction beneath the normal level of total immunoglobulin E (IgE) in the blood.\n", + " definition of HP:0033022 (Chronic decreased circulating IgE concentration)\n", + " \n", + " \n", + " #Chronic decreased circulating IgE #Chronic decreased IgE in blood\n", + " definition of HP:0033022 (Chronic decreased circulating IgE concentration)\n", + " \n", + " \n", + " Cardiac diverticulum\n", + " definition of HP:0100571 (Cardiac diverticulum)\n", + " \n", + " \n", + " A cardiac diverticulum is a rare congenital malformation which is either fibrous or muscular.\n", + " definition of HP:0100571 (Cardiac diverticulum)\n", + " \n", + " \n", + " #Ventricular diverticulum\n", + " definition of HP:0100571 (Cardiac diverticulum)\n", + " \n", + " \n", + " Macrodontia\n", + " definition of HP:0001572 (Macrodontia)\n", + " \n", + " \n", + " Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth.\n", + " definition of HP:0001572 (Macrodontia)\n", + " \n", + " \n", + " #Increased size of tooth #Increased width of tooth #Large tooth #Megalodontia\n", + " definition of HP:0001572 (Macrodontia)\n", + " \n", + " \n", + " Neck pain\n", + " definition of HP:0030833 (Neck pain)\n", + " \n", + " \n", + " An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the neck.\n", + " definition of HP:0030833 (Neck pain)\n", + " \n", + " \n", + " #Neck pain\n", + " definition of HP:0030833 (Neck pain)\n", + " \n", + " \n", + " Reduced social reciprocity with peers\n", + " definition of HP:5200136 (Reduced social reciprocity with peers)\n", + " \n", + " \n", + " Reduced back and forth interactions with others compared to what would be expected for the developmental level.\n", + " definition of HP:5200136 (Reduced social reciprocity with peers)\n", + " \n", + " \n", + " Abnormal mandible morphology\n", + " definition of HP:0000277 (Abnormal mandible morphology)\n", + " \n", + " \n", + " Any abnormality of the mandible, the bone of the lower jaw.\n", + " definition of HP:0000277 (Abnormal mandible morphology)\n", + " \n", + " \n", + " #Abnormality of the lower jaw bone #Abnormality of the mandible\n", + " definition of HP:0000277 (Abnormal mandible morphology)\n", + " \n", + " \n", + " Oral erythroplakia\n", + " definition of HP:0030934 (Oral erythroplakia)\n", + " \n", + " \n", + " A velvety red but not ulcerated lesion of the oral mucosa. The texture may be roughened or normal, and the lesion is neither raised nor depressed.\n", + " definition of HP:0030934 (Oral erythroplakia)\n", + " \n", + " \n", + " #Oral erythroplasia\n", + " definition of HP:0030934 (Oral erythroplakia)\n", + " \n", + " \n", + " Trigeminal anesthesia\n", + " definition of HP:0031912 (Trigeminal anesthesia)\n", + " \n", + " \n", + " Decreased or absent sensation in the distribution of the trigeminal nerve, which provides tactile, proprioceptive, and nociceptive sensation in the area of the face and mouth.\n", + " definition of HP:0031912 (Trigeminal anesthesia)\n", + " \n", + " \n", + " #Trigeminal anaesthesia\n", + " definition of HP:0031912 (Trigeminal anesthesia)\n", + " \n", + " \n", + " Aplasia/Hypoplasia involving bones of the thorax\n", + " definition of HP:0006711 (Aplasia/Hypoplasia involving bones of the thorax)\n", + " \n", + " \n", + " #Absent/small outermost thorax bone #Absent/underdeveloped thorax bone\n", + " definition of HP:0006711 (Aplasia/Hypoplasia involving bones of the thorax)\n", + " \n", + " \n", + " Metaphyseal chondromatosis of ulna\n", + " definition of HP:0030297 (Metaphyseal chondromatosis of ulna)\n", + " \n", + " \n", + " Respiratory failure\n", + " definition of HP:0002878 (Respiratory failure)\n", + " \n", + " \n", + " A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.\n", + " definition of HP:0002878 (Respiratory failure)\n", + " \n", + " \n", + " #Respiratory failure\n", + " definition of HP:0002878 (Respiratory failure)\n", + " \n", + " \n", + " Food intolerance\n", + " definition of HP:0012537 (Food intolerance)\n", + " \n", + " \n", + " A detrimental reaction to a food, beverage, food additive, or compound found in foods that produces symptoms in one or more body organs and systems that is not mediated by an immune reaction.\n", + " definition of HP:0012537 (Food intolerance)\n", + " \n", + " \n", + " #Food intolerance #Non-allergic food hypersensitivity\n", + " definition of HP:0012537 (Food intolerance)\n", + " \n", + " \n", + " Bilateral polymicrogyria\n", + " definition of HP:0025646 (Bilateral polymicrogyria)\n", + " \n", + " \n", + " Polymicrogyria that affects all or some of both cerebral hemispheres.\n", + " definition of HP:0025646 (Bilateral polymicrogyria)\n", + " \n", + " \n", + " Abnormal muscle fiber calpain-3\n", + " definition of HP:0030119 (Abnormal muscle fiber calpain-3)\n", + " \n", + " \n", + " A deviation from normal in the amount of calpain-3 in muscle tissue. Calpains are intracellular nonlysosomal cysteine proteases modulated by calcium ions. A typical calpain is a heterodimer composed of two distinct subunits, one large (over 80 kDa) and the other small (30 kDa). While only one gene encoding the small subunit has been demonstrated, there are many genes for the large one. CAPN3 is similar to ubiquitous Calpain 1 and 2 (m-calpain and micro-calpain), but contains specific insertion sequences (NS, IS1 and IS2). Calpains cleave target proteins to modify their properties, rather than breaking down the substrates.\n", + " definition of HP:0030119 (Abnormal muscle fiber calpain-3)\n", + " \n", + " \n", + " #Abnormal muscle fibre calpain-3\n", + " definition of HP:0030119 (Abnormal muscle fiber calpain-3)\n", + " \n", + " \n", + " White hair\n", + " definition of HP:0011364 (White hair)\n", + " \n", + " \n", + " Hypopigmented hair that appears white.\n", + " definition of HP:0011364 (White hair)\n", + " \n", + " \n", + " #White hair\n", + " definition of HP:0011364 (White hair)\n", + " \n", + " \n", + " Impaired urinary acidification\n", + " definition of HP:0031033 (Impaired urinary acidification)\n", + " \n", + " \n", + " The kidney contributes towards acid-base homeostasis by excreting H+ ions and retaining bicarbonate. This process is known as acidification of the urine. The pH of urine ranges normally from 4.5 to 8. The inability to reduce the pH of the urine in a situation where it would be otherwise expected is known as an acidification defect.\n", + " definition of HP:0031033 (Impaired urinary acidification)\n", + " \n", + " \n", + " #Renal acidification defect\n", + " definition of HP:0031033 (Impaired urinary acidification)\n", + " \n", + " \n", + " Congenitally corrected transposition of the great arteries\n", + " definition of HP:0011540 (Congenitally corrected transposition of the great arteries)\n", + " \n", + " \n", + " The essence of the lesion is the combination of discordant atrioventricular and ventriculo-arterial connections. Thus, the morphologically right atrium is connected to a morphologically left ventricle across the mitral valve, with the left ventricle then connected to the pulmonary trunk. The morphologically left atrium is connected to the morphologically right ventricle across the tricuspid valve, with the morphologically right ventricle connected to the aorta.\n", + " definition of HP:0011540 (Congenitally corrected transposition of the great arteries)\n", + " \n", + " \n", + " D-2-hydroxyglutaric acidemia\n", + " definition of HP:0040146 (D-2-hydroxyglutaric acidemia)\n", + " \n", + " \n", + " Abnormal lymphocyte surface marker expression\n", + " definition of HP:0031383 (Abnormal lymphocyte surface marker expression)\n", + " \n", + " \n", + " Abnormal amount of a protein that is normally present on the cell surface of lymphocytes.\n", + " definition of HP:0031383 (Abnormal lymphocyte surface marker expression)\n", + " \n", + " \n", + " Elevated urinary phenylpyruvic acid level\n", + " definition of HP:0034458 (Elevated urinary phenylpyruvic acid level)\n", + " \n", + " \n", + " An abnormally increased amount of phenylpyruvic acid in the urine.\n", + " definition of HP:0034458 (Elevated urinary phenylpyruvic acid level)\n", + " \n", + " \n", + " #Phenylpyruvic acid high in urine\n", + " definition of HP:0034458 (Elevated urinary phenylpyruvic acid level)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the thumb\n", + " definition of HP:0009601 (Aplasia/Hypoplasia of the thumb)\n", + " \n", + " \n", + " Hypoplastic/small or absent thumb.\n", + " definition of HP:0009601 (Aplasia/Hypoplasia of the thumb)\n", + " \n", + " \n", + " #Absent or hypoplastic thumbs #Absent/hypoplastic thumb #Absent/hypoplastic thumbs #Absent/small thumb #Absent/underdeveloped thumb #Aplasia/hypoplasia of thumbs #Aplastic/hypoplastic thumbs #Hypoplastic to aplastic thumbs #Hypoplastic/absent thumb #Thumb aplasia/hypoplasia\n", + " definition of HP:0009601 (Aplasia/Hypoplasia of the thumb)\n", + " \n", + " \n", + " Progressive flexion contractures\n", + " definition of HP:0005876 (Progressive flexion contractures)\n", + " \n", + " \n", + " Progressively worsening joint contractures.\n", + " definition of HP:0005876 (Progressive flexion contractures)\n", + " \n", + " \n", + " #Joint contractures, progressive\n", + " definition of HP:0005876 (Progressive flexion contractures)\n", + " \n", + " \n", + " Hypoleucinemia\n", + " definition of HP:0500143 (Hypoleucinemia)\n", + " \n", + " \n", + " Decreased amount of leucine in the blood.\n", + " definition of HP:0500143 (Hypoleucinemia)\n", + " \n", + " \n", + " #Decreased blood concentration of leucine #Low blood leucine levels\n", + " definition of HP:0500143 (Hypoleucinemia)\n", + " \n", + " \n", + " Two-raphe bicuspid aortic valve\n", + " definition of HP:0031122 (Two-raphe bicuspid aortic valve)\n", + " \n", + " \n", + " A type of bicuspid aortic valvue (BAV) characterized by the presence of two raphes that each extend from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV has developmental anlagen of three cusps, commissures, and sinuses, but two commissures are more or less malformed and obliterated, giving rise to a raphe, a fibrous ridge, which extends from the commissure to the free edge of the two underdeveloped, conjoint cusps. This type of BAV is typically associated with a high degree of aortic stenosis.\n", + " definition of HP:0031122 (Two-raphe bicuspid aortic valve)\n", + " \n", + " \n", + " Hirsutism\n", + " definition of HP:0001007 (Hirsutism)\n", + " \n", + " \n", + " Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair).\n", + " definition of HP:0001007 (Hirsutism)\n", + " \n", + " \n", + " #Excessive hairiness\n", + " definition of HP:0001007 (Hirsutism)\n", + " \n", + " \n", + " Uric acid nephrolithiasis\n", + " definition of HP:0000791 (Uric acid nephrolithiasis)\n", + " \n", + " \n", + " The presence of uric acid-containing calculi (stones) in the kidneys.\n", + " definition of HP:0000791 (Uric acid nephrolithiasis)\n", + " \n", + " \n", + " #Uric acid stones #Uric acid urolithiasis\n", + " definition of HP:0000791 (Uric acid nephrolithiasis)\n", + " \n", + " \n", + " Prominent corneal nerve fibers\n", + " definition of HP:0010726 (Prominent corneal nerve fibers)\n", + " \n", + " \n", + " Abnormal prominence of the corneal nerve fibers.\n", + " definition of HP:0010726 (Prominent corneal nerve fibers)\n", + " \n", + " \n", + " #Prominent corneal nerve fibres #Visible corneal nerve fibers #Visible corneal nerve fibres\n", + " definition of HP:0010726 (Prominent corneal nerve fibers)\n", + " \n", + " \n", + " Neuroepithelial cyst\n", + " definition of HP:0034485 (Neuroepithelial cyst)\n", + " \n", + " \n", + " A benign epithelial-lined cystic lesion that can occur anywhere in the neuraxis. Neuroepithelial cysts are ependymal or epithelial lined fluid collections of unknown etiology within the central nervous system parenchyma with no obvious ventricular or subarachnoid connection. Most cysts are asymptomatic, however, some present with seizures, mass effect, or rarely with movement disorders. On imaging, they present as CSF-like parenchymal cysts with smooth, rounded borders and minimal or no surrounding signal intensity abnormality.\n", + " definition of HP:0034485 (Neuroepithelial cyst)\n", + " \n", + " \n", + " #Glioependymal cyst #Neuroglial cyst\n", + " definition of HP:0034485 (Neuroepithelial cyst)\n", + " \n", + " \n", + " Scintillating scotoma\n", + " definition of HP:0010822 (Scintillating scotoma)\n", + " \n", + " \n", + " A scintillating scotoma is a common visual aura that can precede a migraine, whereby a spot of flickering light near the center of the visual fields occurs. The spot prevents vision, and is thus termed scotoma. The scotoma can extend into one or more shimmering arcs of white or colored flashing lights.\n", + " definition of HP:0010822 (Scintillating scotoma)\n", + " \n", + " \n", + " Elevated urine mesaconic acid level\n", + " definition of HP:6000465 (Elevated urine mesaconic acid level)\n", + " \n", + " \n", + " The amount of mesaconic acid in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000465 (Elevated urine mesaconic acid level)\n", + " \n", + " \n", + " Cone-shaped epiphysis of the middle phalanx of the 5th toe\n", + " definition of HP:0100215 (Cone-shaped epiphysis of the middle phalanx of the 5th toe)\n", + " \n", + " \n", + " #Cone-shaped end part of the middle bone of the little toe #Cone-shaped end part of the middle bone of the pinkie toe #Cone-shaped end part of the middle bone of the pinky toe\n", + " definition of HP:0100215 (Cone-shaped epiphysis of the middle phalanx of the 5th toe)\n", + " \n", + " \n", + " EEG with hyperventilation-induced epileptiform discharges\n", + " definition of HP:0010858 (EEG with hyperventilation-induced epileptiform discharges)\n", + " \n", + " \n", + " Epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).\n", + " definition of HP:0010858 (EEG with hyperventilation-induced epileptiform discharges)\n", + " \n", + " \n", + " Abnormality of the frontal hairline\n", + " definition of HP:0000599 (Abnormality of the frontal hairline)\n", + " \n", + " \n", + " An anomaly in the placement or shape of the hairline (trichion) on the forehead, that is, the border between skin on the forehead that has head hair and that does not.\n", + " definition of HP:0000599 (Abnormality of the frontal hairline)\n", + " \n", + " \n", + " #Abnormality of hairline at front of head #Abnormality of the frontal hairline\n", + " definition of HP:0000599 (Abnormality of the frontal hairline)\n", + " \n", + " \n", + " Sacroiliac joint synovitis\n", + " definition of HP:0012449 (Sacroiliac joint synovitis)\n", + " \n", + " \n", + " Inflammation of the synovial membrane of the sacroiliac joint.\n", + " definition of HP:0012449 (Sacroiliac joint synovitis)\n", + " \n", + " \n", + " Premature graying of hair\n", + " definition of HP:0002216 (Premature graying of hair)\n", + " \n", + " \n", + " Development of gray hair at a younger than normal age.\n", + " definition of HP:0002216 (Premature graying of hair)\n", + " \n", + " \n", + " #Early graying #Early greying #Premature graying #Premature graying of hair #Premature greying #Premature greying of hair #Premature hair graying #Premature hair greying\n", + " definition of HP:0002216 (Premature graying of hair)\n", + " \n", + " \n", + " Rhinitis\n", + " definition of HP:0012384 (Rhinitis)\n", + " \n", + " \n", + " Inflammation of the nasal mucosa with nasal congestion.\n", + " definition of HP:0012384 (Rhinitis)\n", + " \n", + " \n", + " #Nasal inflammation\n", + " definition of HP:0012384 (Rhinitis)\n", + " \n", + " \n", + " Hypoplastic cervical vertebrae\n", + " definition of HP:0008434 (Hypoplastic cervical vertebrae)\n", + " \n", + " \n", + " #Cervical vertebrae hypoplasia #Underdeveloped cervical vertebrae\n", + " definition of HP:0008434 (Hypoplastic cervical vertebrae)\n", + " \n", + " \n", + " Abnormal cheek morphology\n", + " definition of HP:0004426 (Abnormal cheek morphology)\n", + " \n", + " \n", + " An abnormality of the cheek- one of two bilateral soft tissue facial structures in the region of the face inferior to the eyes and between the nose and the ear. \\"Buccal\\" means relating to the cheek. The cheek is part of the midface\n", + " definition of HP:0004426 (Abnormal cheek morphology)\n", + " \n", + " \n", + " #Abnormality of the cheek #Abnormality of the cheeks\n", + " definition of HP:0004426 (Abnormal cheek morphology)\n", + " \n", + " \n", + " Ectropion\n", + " definition of HP:0000656 (Ectropion)\n", + " \n", + " \n", + " An outward turning (eversion) or rotation of the eyelid margin.\n", + " definition of HP:0000656 (Ectropion)\n", + " \n", + " \n", + " #Eyelid turned out\n", + " definition of HP:0000656 (Ectropion)\n", + " \n", + " \n", + " Sacrococcygeal teratoma\n", + " definition of HP:0030736 (Sacrococcygeal teratoma)\n", + " \n", + " \n", + " A teratoma arising in the sacro-coccygeal region.\n", + " definition of HP:0030736 (Sacrococcygeal teratoma)\n", + " \n", + " \n", + " Reduced TSH response to thyrotrophin-releasing hormone stimulation test\n", + " definition of HP:0033082 (Reduced TSH response to thyrotrophin-releasing hormone stimulation test)\n", + " \n", + " \n", + " A lower than normal TSH response to thyrotrophin-releasing hormone stimulation test.\n", + " definition of HP:0033082 (Reduced TSH response to thyrotrophin-releasing hormone stimulation test)\n", + " \n", + " \n", + " Anti-Amphiphysin antibody\n", + " definition of HP:5000002 (Anti-Amphiphysin antibody)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Amphiphysin.\n", + " definition of HP:5000002 (Anti-Amphiphysin antibody)\n", + " \n", + " \n", + " Progressive loss of facial adipose tissue\n", + " definition of HP:0009019 (Progressive loss of facial adipose tissue)\n", + " \n", + " \n", + " #Atrophy of facial adipose tissue #Facial fat atrophy #Facial fat wasting #Loss of subcutaneous adipose tissue from face, progressive #Progressive loss of facial fat #Progressive loss of facial subcutaneous adipose tissue #Progressive loss of subcutaneous adipose tissue from face\n", + " definition of HP:0009019 (Progressive loss of facial adipose tissue)\n", + " \n", + " \n", + " Enteric intraneuronal nuclear inclusion bodies\n", + " definition of HP:0030938 (Enteric intraneuronal nuclear inclusion bodies)\n", + " \n", + " \n", + " Aggregates of stainable substances (proteins) in the nuclei of enteric neurons.\n", + " definition of HP:0030938 (Enteric intraneuronal nuclear inclusion bodies)\n", + " \n", + " \n", + " Small epiphyses of the middle phalanges of the hand\n", + " definition of HP:0010265 (Small epiphyses of the middle phalanges of the hand)\n", + " \n", + " \n", + " #Small end part of the middle hand bones\n", + " definition of HP:0010265 (Small epiphyses of the middle phalanges of the hand)\n", + " \n", + " \n", + " Reduced HMG-CoA lyase activity in cultured fibroblasts\n", + " definition of HP:6000216 (Reduced HMG-CoA lyase activity in cultured fibroblasts)\n", + " \n", + " \n", + " Activity of 3-hydroxy-3-methylglutaryl coenzyme A lyase (HMG CoA lyase) below the lower limit of normal in cultured fibroblasts.\n", + " definition of HP:6000216 (Reduced HMG-CoA lyase activity in cultured fibroblasts)\n", + " \n", + " \n", + " Hypovolemic shock\n", + " definition of HP:0031274 (Hypovolemic shock)\n", + " \n", + " \n", + " A state of shock characterized by decreased circulating blood volume in relation to total vascular capacity. This type of shock is characterized by a reduction of diastolic filling pressures.\n", + " definition of HP:0031274 (Hypovolemic shock)\n", + " \n", + " \n", + " Focal motor seizure with dystonia\n", + " definition of HP:0032718 (Focal motor seizure with dystonia)\n", + " \n", + " \n", + " A focal motor seizure in which the initial semiological manifestation is the sustained contraction of both agonist and antagonist muscles producing athetoid or twisting movements, which produces abnormal postures.\n", + " definition of HP:0032718 (Focal motor seizure with dystonia)\n", + " \n", + " \n", + " Abnormal gametogenesis\n", + " definition of HP:0033337 (Abnormal gametogenesis)\n", + " \n", + " \n", + " An anomaly in the process by a a haploid cell is formed from a diploid cells through meiosis. In males, diploid spermatogonia produce two haploid cells (secondary spermatocytes) in meiosis I and four haploid spermatids in meiosis II. In females, primordial germ cells under meiosis II before birth to form primary oocytes. Once puberty cell begins, these cells form secondary oocytes through meiosis II.\n", + " definition of HP:0033337 (Abnormal gametogenesis)\n", + " \n", + " \n", + " Nipple tenderness\n", + " definition of HP:0020226 (Nipple tenderness)\n", + " \n", + " \n", + " Pain or discomfort produced by touching the nipple.\n", + " definition of HP:0020226 (Nipple tenderness)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the 2nd toe\n", + " definition of HP:0010325 (Aplasia/Hypoplasia of the 2nd toe)\n", + " \n", + " \n", + " #Absent/small 2nd toe #Absent/underdeveloped 2nd toe\n", + " definition of HP:0010325 (Aplasia/Hypoplasia of the 2nd toe)\n", + " \n", + " \n", + " Cervical dysplasia\n", + " definition of HP:0032131 (Cervical dysplasia)\n", + " \n", + " \n", + " Cervical dysplasia is the precursor to cervical cancer. It is caused by the persistent infection of the human papillomavirus (HPV) into the cervical tissue. Affected cells develop morphologic features with immature basaloid- type squamous cells and mitotic figures in the upper half of the cervical epithelium.\n", + " definition of HP:0032131 (Cervical dysplasia)\n", + " \n", + " \n", + " #Uterine cervix dysplasia\n", + " definition of HP:0032131 (Cervical dysplasia)\n", + " \n", + " \n", + " Humeral metaphyseal irregularity\n", + " definition of HP:0003913 (Humeral metaphyseal irregularity)\n", + " \n", + " \n", + " #Irregular humeral metaphyses #Irregular wide portion of long bone in upper arm\n", + " definition of HP:0003913 (Humeral metaphyseal irregularity)\n", + " \n", + " \n", + " Increased fecal harderoporphyrin\n", + " definition of HP:0034472 (Increased fecal harderoporphyrin)\n", + " \n", + " \n", + " Abnormally high concentration of harderoporphyrin in feces.\n", + " definition of HP:0034472 (Increased fecal harderoporphyrin)\n", + " \n", + " \n", + " #Harderoporphyrin high in stool\n", + " definition of HP:0034472 (Increased fecal harderoporphyrin)\n", + " \n", + " \n", + " Persistent asymmetrical tonic neck reflex\n", + " definition of HP:0032549 (Persistent asymmetrical tonic neck reflex)\n", + " \n", + " \n", + " Persistence beyond the normal age (roughly the first half of the first year of life) of the asymmetric tonic neck reflex (ATNR), which is an easily elicited primitive reflex in the immediate newborn period. The ATNR refers to the phenomenon whereby when the face of an infant is turned to one side, the ipsilateral arm and leg extend and the contralateral arm and leg flex. This posture has been compared to a typical posture of fencers.\n", + " definition of HP:0032549 (Persistent asymmetrical tonic neck reflex)\n", + " \n", + " \n", + " #Persistent fencer's reflex #Tonic neck reflex asymmetrical and persistent\n", + " definition of HP:0032549 (Persistent asymmetrical tonic neck reflex)\n", + " \n", + " \n", + " Psychosis\n", + " definition of HP:0000709 (Psychosis)\n", + " \n", + " \n", + " A condition characterized by changes in personality and thought patterns, often accompanied by hallucinations and delusional beliefs, is known as psychosis.\n", + " definition of HP:0000709 (Psychosis)\n", + " \n", + " \n", + " #Psychosis\n", + " definition of HP:0000709 (Psychosis)\n", + " \n", + " \n", + " Oscillopsia\n", + " definition of HP:0034773 (Oscillopsia)\n", + " \n", + " \n", + " A visual disturbance in which objects in the visual field appear to oscillate (jump, jiggle, vibrate).\n", + " definition of HP:0034773 (Oscillopsia)\n", + " \n", + " \n", + " Flexural reticulate hyperpigmentation\n", + " definition of HP:6000745 (Flexural reticulate hyperpigmentation)\n", + " \n", + " \n", + " Hyperpigmented macules with a reticulate (net-like) pattern involving the neck, axillae, groins, and other flexures like the inframammary folds in females. Histopathology shows orthokeratosis or hyperkeratosis, thinning of the suprapapillary epithelium, elongation of the rete ridges, hyperpigmentation of the basal layer, and follicular cysts. A perivascular lymphohistiocytic infiltrate can be observed in the papillary dermis.\n", + " definition of HP:6000745 (Flexural reticulate hyperpigmentation)\n", + " \n", + " \n", + " #Reticular pigmented anomaly of the flexures #Reticulate hyperpigmentation of the flexures\n", + " definition of HP:6000745 (Flexural reticulate hyperpigmentation)\n", + " \n", + " \n", + " Hypobilirubinemia\n", + " definition of HP:0033480 (Hypobilirubinemia)\n", + " \n", + " \n", + " Concentration of bilirubin in the blood circulation below the lower limit of normal.\n", + " definition of HP:0033480 (Hypobilirubinemia)\n", + " \n", + " \n", + " Conical primary incisor\n", + " definition of HP:0011082 (Conical primary incisor)\n", + " \n", + " \n", + " An abnormal conical morphology of the primary incisor.\n", + " definition of HP:0011082 (Conical primary incisor)\n", + " \n", + " \n", + " #Cone shaped front baby tooth #Conical deciduous incisor #Conoid primary incisor #Primary front shark tooth\n", + " definition of HP:0011082 (Conical primary incisor)\n", + " \n", + " \n", + " Fungal hair infection\n", + " definition of HP:6001088 (Fungal hair infection)\n", + " \n", + " \n", + " Demonstration of fungi growing on hair by a method such as microscopy of hairs mounted on slides with 10% potassium hydroxide.\n", + " definition of HP:6001088 (Fungal hair infection)\n", + " \n", + " \n", + " #Fungal infection of hair\n", + " definition of HP:6001088 (Fungal hair infection)\n", + " \n", + " \n", + " Abnormality of limb bone\n", + " definition of HP:0040068 (Abnormality of limb bone)\n", + " \n", + " \n", + " #Abnormality of limb bone\n", + " definition of HP:0040068 (Abnormality of limb bone)\n", + " \n", + " \n", + " Absent pubic hair\n", + " definition of HP:0002555 (Absent pubic hair)\n", + " \n", + " \n", + " Absence of pubic hair.\n", + " definition of HP:0002555 (Absent pubic hair)\n", + " \n", + " \n", + " #Absent pubic hair\n", + " definition of HP:0002555 (Absent pubic hair)\n", + " \n", + " \n", + " Uterine cervix myxoma\n", + " definition of HP:0034949 (Uterine cervix myxoma)\n", + " \n", + " \n", + " A myxoma (tumor of primitive connective tissue) localized to the the cervix of the uterus.\n", + " definition of HP:0034949 (Uterine cervix myxoma)\n", + " \n", + " \n", + " Elevated circulating lipoprotein(a) concentration\n", + " definition of HP:6000521 (Elevated circulating lipoprotein(a) concentration)\n", + " \n", + " \n", + " The concentration of lipoprotein(a) in the blood circulation is above the upper limit of normal. Lipoprotein(a), also known as apolipoprotein(A), is encoded by LPA (HGNC:6667).\n", + " definition of HP:6000521 (Elevated circulating lipoprotein(a) concentration)\n", + " \n", + " \n", + " Eosinophilic fasciitis\n", + " definition of HP:0045029 (Eosinophilic fasciitis)\n", + " \n", + " \n", + " Inflammation and thickening (localized fibrosis) of the fascia, the tissue under the skin and over the muscle, typically associated with a build up of eosinophils in the muscles and tissues.\n", + " definition of HP:0045029 (Eosinophilic fasciitis)\n", + " \n", + " \n", + " Symphalangism of the proximal phalanx of the 5th finger with the 5th metacarpal\n", + " definition of HP:0009234 (Symphalangism of the proximal phalanx of the 5th finger with the 5th metacarpal)\n", + " \n", + " \n", + " Fusion of the proximal phalanx of the 5th finger with the 5th metacarpal.\n", + " definition of HP:0009234 (Symphalangism of the proximal phalanx of the 5th finger with the 5th metacarpal)\n", + " \n", + " \n", + " #Fused innermost bone of little finger with 5th long bone of hand #Fused innermost bone of pinkie finger with 5th long bone of hand #Fused innermost bone of pinky finger with 5th long bone of hand\n", + " definition of HP:0009234 (Symphalangism of the proximal phalanx of the 5th finger with the 5th metacarpal)\n", + " \n", + " \n", + " Abnormal eye contact\n", + " definition of HP:0034435 (Abnormal eye contact)\n", + " \n", + " \n", + " Any abnormality of eye contact behavior. We define eye contact as a form of nonverbal communication between two individuals who are facing each other in which an individual directs the eyes towards the eyes or face of the other individual. Eye contact occurs frequently and voluntarily during face-to-face verbal communication. The duration and frequency of eye contact that is interpreted to be appropriate may follow social and situational norms.\n", + " definition of HP:0034435 (Abnormal eye contact)\n", + " \n", + " \n", + " Supraventricular tachycardia with an accessory connection mediated pathway\n", + " definition of HP:0011688 (Supraventricular tachycardia with an accessory connection mediated pathway)\n", + " \n", + " \n", + " Supraventricular tachycardia in which an accessory pathway connecting the atria and ventricles, apart from the AV node, participates as a necessary part of a reentrant mechanism.\n", + " definition of HP:0011688 (Supraventricular tachycardia with an accessory connection mediated pathway)\n", + " \n", + " \n", + " #Atrioventricular re-entry tachycardia #Supraventricular tachycardia with an accessory connexion mediated pathway\n", + " definition of HP:0011688 (Supraventricular tachycardia with an accessory connection mediated pathway)\n", + " \n", + " \n", + " Impaired proprioception\n", + " definition of HP:0010831 (Impaired proprioception)\n", + " \n", + " \n", + " A loss or impairment of the sensation of the relative position of parts of the body and joint position.\n", + " definition of HP:0010831 (Impaired proprioception)\n", + " \n", + " \n", + " #Abnormality of proprioception\n", + " definition of HP:0010831 (Impaired proprioception)\n", + " \n", + " \n", + " Bullet-shaped 2nd toe phalanx\n", + " definition of HP:0010349 (Bullet-shaped 2nd toe phalanx)\n", + " \n", + " \n", + " An abnormal morphology of one or more phalanges of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.\n", + " definition of HP:0010349 (Bullet-shaped 2nd toe phalanx)\n", + " \n", + " \n", + " #Bullet-shaped bones of the 2nd toe #Bullet-shaped phalanges of the 2nd toe\n", + " definition of HP:0010349 (Bullet-shaped 2nd toe phalanx)\n", + " \n", + " \n", + " Abnormal pleura morphology\n", + " definition of HP:0002103 (Abnormal pleura morphology)\n", + " \n", + " \n", + " An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls.\n", + " definition of HP:0002103 (Abnormal pleura morphology)\n", + " \n", + " \n", + " #Abnormality of the pleura\n", + " definition of HP:0002103 (Abnormal pleura morphology)\n", + " \n", + " \n", + " Abnormality of the parathyroid gland\n", + " definition of HP:0000828 (Abnormality of the parathyroid gland)\n", + " \n", + " \n", + " An abnormality of the parathyroid gland.\n", + " definition of HP:0000828 (Abnormality of the parathyroid gland)\n", + " \n", + " \n", + " Opportunistic fungal infection\n", + " definition of HP:0032255 (Opportunistic fungal infection)\n", + " \n", + " \n", + " An infection that is caused by a fungus that would generally not be able to cause an infection in a host with a normal immune system. Such fungi take advantage of the opportunity, so to speak, that is provided by a weakened immune system.\n", + " definition of HP:0032255 (Opportunistic fungal infection)\n", + " \n", + " \n", + " Abnormality of the wrist\n", + " definition of HP:0003019 (Abnormality of the wrist)\n", + " \n", + " \n", + " Abnormality of the wrist, the structure connecting the hand and the forearm.\n", + " definition of HP:0003019 (Abnormality of the wrist)\n", + " \n", + " \n", + " #Abnormalities of the wrists #Abnormality of the wrist\n", + " definition of HP:0003019 (Abnormality of the wrist)\n", + " \n", + " \n", + " Boot-shaped cardiac silhouette\n", + " definition of HP:6000145 (Boot-shaped cardiac silhouette)\n", + " \n", + " \n", + " An abnormal form of the heart seen upon chest radiography in which the heart displays an upturned apex and slight concave pulmonary artery segment. This configuration is said to resemble a boot.\n", + " definition of HP:6000145 (Boot-shaped cardiac silhouette)\n", + " \n", + " \n", + " #Boot shaped cardiac silhouette\n", + " definition of HP:6000145 (Boot-shaped cardiac silhouette)\n", + " \n", + " \n", + " Incyclotropia\n", + " definition of HP:0031726 (Incyclotropia)\n", + " \n", + " \n", + " A type of cyclotropia (torsion of one or both eye around the visual axis of the eyes) in which the upper poles of the globes are rotated inward (medially) to each other.\n", + " definition of HP:0031726 (Incyclotropia)\n", + " \n", + " \n", + " Abnormal nasolabial region morphology\n", + " definition of HP:0005289 (Abnormal nasolabial region morphology)\n", + " \n", + " \n", + " #Abnormality of the nasolabial region #Anomaly of the nasolabial region\n", + " definition of HP:0005289 (Abnormal nasolabial region morphology)\n", + " \n", + " \n", + " Abnormal circulating gastrin concentration\n", + " definition of HP:0500166 (Abnormal circulating gastrin concentration)\n", + " \n", + " \n", + " An abnormal concentration of gastrin in the blood.\n", + " definition of HP:0500166 (Abnormal circulating gastrin concentration)\n", + " \n", + " \n", + " #Abnormal circulating gastrin level\n", + " definition of HP:0500166 (Abnormal circulating gastrin concentration)\n", + " \n", + " \n", + " Abnormal T cell activation\n", + " definition of HP:0410035 (Abnormal T cell activation)\n", + " \n", + " \n", + " Any abnormality in the activation of T cells, i.e. the change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific.\n", + " definition of HP:0410035 (Abnormal T cell activation)\n", + " \n", + " \n", + " #Abnormal T lymphocyte activation #Abnormal T-cell activation #Abnormal T-lymphocyte activation\n", + " definition of HP:0410035 (Abnormal T cell activation)\n", + " \n", + " \n", + " Visual acuity light perception with projection\n", + " definition of HP:0030551 (Visual acuity light perception with projection)\n", + " \n", + " \n", + " Right atrial isomerism\n", + " definition of HP:0011536 (Right atrial isomerism)\n", + " \n", + " \n", + " Right atrial isomerism is characterized by bilateral triangular, morphologically right atrial, appendages, both joining the atrial chamber along a broad front with internal terminal crest.\n", + " definition of HP:0011536 (Right atrial isomerism)\n", + " \n", + " \n", + " Sclerosis of 3rd toe phalanx\n", + " definition of HP:0100927 (Sclerosis of 3rd toe phalanx)\n", + " \n", + " \n", + " An elevation in bone density in one or more phalanges of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.\n", + " definition of HP:0100927 (Sclerosis of 3rd toe phalanx)\n", + " \n", + " \n", + " #Increased bone density in 3rd toe bone #Sclerosis of the phalanges of the 3rd toe\n", + " definition of HP:0100927 (Sclerosis of 3rd toe phalanx)\n", + " \n", + " \n", + " Increased glucose-6-phosphate dehydrogenase level in leukocytes\n", + " definition of HP:0410191 (Increased glucose-6-phosphate dehydrogenase level in leukocytes)\n", + " \n", + " \n", + " An increase in the level of glucose-6-phosphate dehydrogenase in leukocytes.\n", + " definition of HP:0410191 (Increased glucose-6-phosphate dehydrogenase level in leukocytes)\n", + " \n", + " \n", + " #Increased G6PD level in leukocytes\n", + " definition of HP:0410191 (Increased glucose-6-phosphate dehydrogenase level in leukocytes)\n", + " \n", + " \n", + " Abnormal morphology of the proximal phalanx of the 4th toe\n", + " definition of HP:0010382 (Abnormal morphology of the proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " #Abnormal innermost 4th toe bone\n", + " definition of HP:0010382 (Abnormal morphology of the proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " Aplasia/Hypoplasia affecting the eye\n", + " definition of HP:0008056 (Aplasia/Hypoplasia affecting the eye)\n", + " \n", + " \n", + " #Absent/small eye #Absent/underdeveloped eye\n", + " definition of HP:0008056 (Aplasia/Hypoplasia affecting the eye)\n", + " \n", + " \n", + " Broad middle phalanx of the 5th toe\n", + " definition of HP:0100427 (Broad middle phalanx of the 5th toe)\n", + " \n", + " \n", + " #Broad middle bone of the little toe #Broad middle bone of the pinkie toe #Broad middle bone of the pinky toe\n", + " definition of HP:0100427 (Broad middle phalanx of the 5th toe)\n", + " \n", + " \n", + " Lymphoid hyperplasia\n", + " definition of HP:0034839 (Lymphoid hyperplasia)\n", + " \n", + " \n", + " An abnormal bone marrow finding characterized by many poorly circumscribed and occasionally confluent lymphoid nodules. The nodules contain small and uniform lymphocytes with rounded nuclei, clumped chromatin, and without prominent nucleoli.\n", + " definition of HP:0034839 (Lymphoid hyperplasia)\n", + " \n", + " \n", + " Hypoplasia of serratus anterior muscle\n", + " definition of HP:0009011 (Hypoplasia of serratus anterior muscle)\n", + " \n", + " \n", + " Underdevelopment of the serratus anterior muscle, which is involved in abduction, upward Rotation, and elevation of the scapula.\n", + " definition of HP:0009011 (Hypoplasia of serratus anterior muscle)\n", + " \n", + " \n", + " Hyperparathyroidism\n", + " definition of HP:0000843 (Hyperparathyroidism)\n", + " \n", + " \n", + " Excessive production of parathyroid hormone (PTH) by the parathyroid glands.\n", + " definition of HP:0000843 (Hyperparathyroidism)\n", + " \n", + " \n", + " #Elevated blood parathyroid hormone level\n", + " definition of HP:0000843 (Hyperparathyroidism)\n", + " \n", + " \n", + " Aplasia of the proximal phalanges of the toes\n", + " definition of HP:0100388 (Aplasia of the proximal phalanges of the toes)\n", + " \n", + " \n", + " #Absent innermost toe bones\n", + " definition of HP:0100388 (Aplasia of the proximal phalanges of the toes)\n", + " \n", + " \n", + " Abnormal endometrium morphology\n", + " definition of HP:0030126 (Abnormal endometrium morphology)\n", + " \n", + " \n", + " An anomaly of the inner mucous membrane of the uterus.\n", + " definition of HP:0030126 (Abnormal endometrium morphology)\n", + " \n", + " \n", + " #Abnormality of the endometrium\n", + " definition of HP:0030126 (Abnormal endometrium morphology)\n", + " \n", + " \n", + " Restrictive ventilatory defect\n", + " definition of HP:0002091 (Restrictive ventilatory defect)\n", + " \n", + " \n", + " A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus.\n", + " definition of HP:0002091 (Restrictive ventilatory defect)\n", + " \n", + " \n", + " #Restrictive deficit on pulmonary function testing #Restrictive deficit on pulmonary function tests #Restrictive respiratory disease #Restrictive respiratory insufficiency #Restrictive respiratory syndrome #Spirometric restriction #Stiff lung or chest wall causing decreased lung volume\n", + " definition of HP:0002091 (Restrictive ventilatory defect)\n", + " \n", + " \n", + " Family history of cancer\n", + " definition of HP:0032317 (Family history of cancer)\n", + " \n", + " \n", + " A close blood relative had cancer.\n", + " definition of HP:0032317 (Family history of cancer)\n", + " \n", + " \n", + " Retinopathy of prematurity zone II\n", + " definition of HP:0500060 (Retinopathy of prematurity zone II)\n", + " \n", + " \n", + " Retinopathy which extends centrifugally from the edge of zone I to the nasal ora serrata.\n", + " definition of HP:0500060 (Retinopathy of prematurity zone II)\n", + " \n", + " \n", + " #ROP zone II\n", + " definition of HP:0500060 (Retinopathy of prematurity zone II)\n", + " \n", + " \n", + " Palmoplantar location\n", + " definition of HP:6001109 (Palmoplantar location)\n", + " \n", + " \n", + " Applied to lesions whose distribution is confined or restricted to the palms of the hands and soles of the feet.\n", + " definition of HP:6001109 (Palmoplantar location)\n", + " \n", + " \n", + " Hypersarcosinuria\n", + " definition of HP:0010897 (Hypersarcosinuria)\n", + " \n", + " \n", + " An elevated urinary concentration of sarcosine.\n", + " definition of HP:0010897 (Hypersarcosinuria)\n", + " \n", + " \n", + " #High urine sarcosine levels\n", + " definition of HP:0010897 (Hypersarcosinuria)\n", + " \n", + " \n", + " Conjunctival dermolipoma\n", + " definition of HP:0500070 (Conjunctival dermolipoma)\n", + " \n", + " \n", + " A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimeters posterior to the limbus.\n", + " definition of HP:0500070 (Conjunctival dermolipoma)\n", + " \n", + " \n", + " Decreased circulating complement C4b concentration\n", + " definition of HP:0045044 (Decreased circulating complement C4b concentration)\n", + " \n", + " \n", + " Concentration of the complement component C4b in the blood circulation below the lower limit of normal.\n", + " definition of HP:0045044 (Decreased circulating complement C4b concentration)\n", + " \n", + " \n", + " #C4b deficiency #Complement component 4B deficiency\n", + " definition of HP:0045044 (Decreased circulating complement C4b concentration)\n", + " \n", + " \n", + " Short middle phalanx of the 5th toe\n", + " definition of HP:0100394 (Short middle phalanx of the 5th toe)\n", + " \n", + " \n", + " Developmental hypoplasia of the middle phalanx of the 5th toe.\n", + " definition of HP:0100394 (Short middle phalanx of the 5th toe)\n", + " \n", + " \n", + " #Hypoplastic/small middle phalanx of the 5th toe #Short middle bone of little toe #Short middle bone of pinkie toe #Short middle bone of pinky toe #Short middle phalanx of the fifth toe\n", + " definition of HP:0100394 (Short middle phalanx of the 5th toe)\n", + " \n", + " \n", + " Reticulocytosis\n", + " definition of HP:0001923 (Reticulocytosis)\n", + " \n", + " \n", + " An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.\n", + " definition of HP:0001923 (Reticulocytosis)\n", + " \n", + " \n", + " #Increased immature red blood cells #Increased number of immature red blood cells #Increased reticulocyte count #Increased reticulocytes\n", + " definition of HP:0001923 (Reticulocytosis)\n", + " \n", + " \n", + " Decreased superoxide dismutase level\n", + " definition of HP:0031837 (Decreased superoxide dismutase level)\n", + " \n", + " \n", + " Decreased level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide.\n", + " definition of HP:0031837 (Decreased superoxide dismutase level)\n", + " \n", + " \n", + " #Decreased superoxide:superoxide oxidoreductase activity\n", + " definition of HP:0031837 (Decreased superoxide dismutase level)\n", + " \n", + " \n", + " Diminished sulfotransferase activity in cultured fibroblasts\n", + " definition of HP:6000970 (Diminished sulfotransferase activity in cultured fibroblasts)\n", + " \n", + " \n", + " Rate of proteoglycan sulfation (sulfotransferase activity) is below the lower limit of normal in cultured fibroblasts.\n", + " definition of HP:6000970 (Diminished sulfotransferase activity in cultured fibroblasts)\n", + " \n", + " \n", + " Multiple meningiomas\n", + " definition of HP:0033714 (Multiple meningiomas)\n", + " \n", + " \n", + " The occurrence of multiple distinct meningiomas in the same individual.\n", + " definition of HP:0033714 (Multiple meningiomas)\n", + " \n", + " \n", + " #Multifocal meningiomata #Multiple meningiomata\n", + " definition of HP:0033714 (Multiple meningiomas)\n", + " \n", + " \n", + " Asymptomatic hyperammonemia\n", + " definition of HP:0008162 (Asymptomatic hyperammonemia)\n", + " \n", + " \n", + " An increased concentration of ammonia in the blood not associated with symptoms such as encephalopathy.\n", + " definition of HP:0008162 (Asymptomatic hyperammonemia)\n", + " \n", + " \n", + " #Hyperammonemia, asymptomatic\n", + " definition of HP:0008162 (Asymptomatic hyperammonemia)\n", + " \n", + " \n", + " Basic constant esotropia\n", + " definition of HP:0031759 (Basic constant esotropia)\n", + " \n", + " \n", + " A form of convergent strabismus (esotropia) in which the deviation is present under all conditions (ie at all distances and at all times).\n", + " definition of HP:0031759 (Basic constant esotropia)\n", + " \n", + " \n", + " #Basic (constant) esotropia\n", + " definition of HP:0031759 (Basic constant esotropia)\n", + " \n", + " \n", + " Aortic regurgitation\n", + " definition of HP:0001659 (Aortic regurgitation)\n", + " \n", + " \n", + " An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle.\n", + " definition of HP:0001659 (Aortic regurgitation)\n", + " \n", + " \n", + " #Aortic insufficiency #Aortic valve regurgitation\n", + " definition of HP:0001659 (Aortic regurgitation)\n", + " \n", + " \n", + " Abnormality of the epiphyses of the proximal phalanges of the hand\n", + " definition of HP:0010245 (Abnormality of the epiphyses of the proximal phalanges of the hand)\n", + " \n", + " \n", + " #Abnormality of the end part of the innermost hand bones\n", + " definition of HP:0010245 (Abnormality of the epiphyses of the proximal phalanges of the hand)\n", + " \n", + " \n", + " Laryngotracheomalacia\n", + " definition of HP:0008755 (Laryngotracheomalacia)\n", + " \n", + " \n", + " Renal malrotation\n", + " definition of HP:0004712 (Renal malrotation)\n", + " \n", + " \n", + " An abnormality of the normal developmental rotation of the kidney leading to an abnormal orientation of the kidney.\n", + " definition of HP:0004712 (Renal malrotation)\n", + " \n", + " \n", + " #Abnormal rotation of the kidneys #Malrotation of the kidney\n", + " definition of HP:0004712 (Renal malrotation)\n", + " \n", + " \n", + " Extreme axis deviation\n", + " definition of HP:0033569 (Extreme axis deviation)\n", + " \n", + " \n", + " A kind of abnormal ventricular axis in the EKG whereby the QRS axis fall sbetween -90 degrees and 180 degrees. In this case, the ventricular vector is directed upward and to the right.\n", + " definition of HP:0033569 (Extreme axis deviation)\n", + " \n", + " \n", + " Malignant ovarian granulosa cell tumor\n", + " definition of HP:0031920 (Malignant ovarian granulosa cell tumor)\n", + " \n", + " \n", + " An aggressive granulosa cell tumor that arises from the ovary.\n", + " definition of HP:0031920 (Malignant ovarian granulosa cell tumor)\n", + " \n", + " \n", + " #Malignant ovarian granulosa cell tumour\n", + " definition of HP:0031920 (Malignant ovarian granulosa cell tumor)\n", + " \n", + " \n", + " Abnormal dental morphology\n", + " definition of HP:0006482 (Abnormal dental morphology)\n", + " \n", + " \n", + " An abnormality of the morphology of the tooth.\n", + " definition of HP:0006482 (Abnormal dental morphology)\n", + " \n", + " \n", + " #Abnormality of dental morphology #Abnormality of dental shape #Abnormality of shape of tooth #Abnormally shaped teeth #Deformity of teeth #Dental deformity #Dental malformations #Malformation of teeth #Malformed teeth #Misshapen teeth #Misshapened teeth\n", + " definition of HP:0006482 (Abnormal dental morphology)\n", + " \n", + " \n", + " Abnormal mesentery morphology\n", + " definition of HP:0100016 (Abnormal mesentery morphology)\n", + " \n", + " \n", + " Folds of membranous tissue (peritoneum, mesothelium) attached to the wall of the abdomen and enclosing viscera. Examples include the mesentery for the small intestine; the transverse mesocolon, which attaches the transverse portion of the colon to the back wall of the abdomen; and the mesosigmoid, which enfolds the sigmoid portion of the colon. Cells of the same embryologic origin also surround the other organs of the body such as the lungs (pleura) or the heart (pericardium).\n", + " definition of HP:0100016 (Abnormal mesentery morphology)\n", + " \n", + " \n", + " #Abnormality of mesentery morphology\n", + " definition of HP:0100016 (Abnormal mesentery morphology)\n", + " \n", + " \n", + " Abnormal circulating cholesterol concentration\n", + " definition of HP:0003107 (Abnormal circulating cholesterol concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of cholesterol in the blood circulation.\n", + " definition of HP:0003107 (Abnormal circulating cholesterol concentration)\n", + " \n", + " \n", + " #Abnormal cholesterol homeostasis #Abnormality of cholesterol metabolism\n", + " definition of HP:0003107 (Abnormal circulating cholesterol concentration)\n", + " \n", + " \n", + " Aminoglycoside-induced hearing loss\n", + " definition of HP:0011975 (Aminoglycoside-induced hearing loss)\n", + " \n", + " \n", + " Partial or complete loss of hearing following ingestion of aminoglycoside antibiotics.\n", + " definition of HP:0011975 (Aminoglycoside-induced hearing loss)\n", + " \n", + " \n", + " Elevated circulating alanine aminotransferase concentration\n", + " definition of HP:0031964 (Elevated circulating alanine aminotransferase concentration)\n", + " \n", + " \n", + " An abnormally high concentration in the circulation of alanine aminotransferase (ALT).\n", + " definition of HP:0031964 (Elevated circulating alanine aminotransferase concentration)\n", + " \n", + " \n", + " #Alanine aminotransferase increased #Elevated serum alanine aminotransferase #Elevated serum ALT #Elevated serum glutamic-pyruvic transaminase\n", + " definition of HP:0031964 (Elevated circulating alanine aminotransferase concentration)\n", + " \n", + " \n", + " Neoplasia of the pleura\n", + " definition of HP:0100527 (Neoplasia of the pleura)\n", + " \n", + " \n", + " Podocyte microvillous transformation\n", + " definition of HP:0033238 (Podocyte microvillous transformation)\n", + " \n", + " \n", + " Cytoplasmic projections into the urinary space from the luminal side of the podocyte.\n", + " definition of HP:0033238 (Podocyte microvillous transformation)\n", + " \n", + " \n", + " Anti-laminin antibody positivity\n", + " definition of HP:4000024 (Anti-laminin antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against a laminin. Laminins are major components of the basement membrane.\n", + " definition of HP:4000024 (Anti-laminin antibody positivity)\n", + " \n", + " \n", + " Focal impaired awareness cognitive seizure with dyscalculia/acalculia\n", + " definition of HP:0032802 (Focal impaired awareness cognitive seizure with dyscalculia/acalculia)\n", + " \n", + " \n", + " A focal cognitive seizure with dyscalculia / acalculia characterized by impairment of awareness at some point during the seizure.\n", + " definition of HP:0032802 (Focal impaired awareness cognitive seizure with dyscalculia/acalculia)\n", + " \n", + " \n", + " Hypoplastic thumbnail\n", + " definition of HP:0012553 (Hypoplastic thumbnail)\n", + " \n", + " \n", + " A thumbnail that is diminished in length and width, i.e., underdeveloped thumb nail.\n", + " definition of HP:0012553 (Hypoplastic thumbnail)\n", + " \n", + " \n", + " #Small thumbnail #Underdeveloped thumbnail\n", + " definition of HP:0012553 (Hypoplastic thumbnail)\n", + " \n", + " \n", + " Cutaneous melanoma\n", + " definition of HP:0012056 (Cutaneous melanoma)\n", + " \n", + " \n", + " The presence of a melanoma of the skin.\n", + " definition of HP:0012056 (Cutaneous melanoma)\n", + " \n", + " \n", + " Neoplasm of the nose\n", + " definition of HP:0012720 (Neoplasm of the nose)\n", + " \n", + " \n", + " Tumor (An abnormal mass of tissue resulting from abnormally dividing cells) of the nasal cavity.\n", + " definition of HP:0012720 (Neoplasm of the nose)\n", + " \n", + " \n", + " #Nasal neoplasm #Nasal tumor #Nasal tumour #Neoplasia of the nose #Nose cancer #Tumor of the nose #Tumour of the nose\n", + " definition of HP:0012720 (Neoplasm of the nose)\n", + " \n", + " \n", + " Partial duplication of the phalanges of the hallux\n", + " definition of HP:0010101 (Partial duplication of the phalanges of the hallux)\n", + " \n", + " \n", + " #Partial duplication of big toe #partial duplication of hallux\n", + " definition of HP:0010101 (Partial duplication of the phalanges of the hallux)\n", + " \n", + " \n", + " Inclusion body fibromatosis\n", + " definition of HP:0025197 (Inclusion body fibromatosis)\n", + " \n", + " \n", + " A benign tumor made up of mostly myofibroblasts that appears almost exclusively on the digits of the hands and feet, rarely involving the thumb or big toe. The lesion displays a proliferation of bland intradermal spindle cells arranged in whorls, fascicles, or a storiform pattern in a collagenous background of varying degrees. Also usually present are perpendicular tumor cell fascicles that extend to the epidermis. The small intracytoplasmic inclusions are said to appear similar to red blood cells. The inclusion bodies have been shown to be made up of densely packed vimentin and actin filaments. The tumor often causes a dome-shaped elevation of the overlying structures, forming a protuberant or polypoid nodule. The overlying epidermis can display a host of changes, including acanthosis, hyperkeratosis, parakeratosis, rete ridge flattening, entrapment of adnexal structures, and, rarely, ulceration.\n", + " definition of HP:0025197 (Inclusion body fibromatosis)\n", + " \n", + " \n", + " #Digital fibrous tumor of Reye #Digital fibrous tumour of Reye #Infantile digital fibroma #Infantile digital fibromatosis\n", + " definition of HP:0025197 (Inclusion body fibromatosis)\n", + " \n", + " \n", + " Hypocholesterolemia\n", + " definition of HP:0003146 (Hypocholesterolemia)\n", + " \n", + " \n", + " An decreased concentration of cholesterol in the blood.\n", + " definition of HP:0003146 (Hypocholesterolemia)\n", + " \n", + " \n", + " #Decreased circulating cholesterol level\n", + " definition of HP:0003146 (Hypocholesterolemia)\n", + " \n", + " \n", + " Primary hypothyroidism\n", + " definition of HP:0000832 (Primary hypothyroidism)\n", + " \n", + " \n", + " A type of hypothyroidism that results from a defect in the thyroid gland.\n", + " definition of HP:0000832 (Primary hypothyroidism)\n", + " \n", + " \n", + " Pinhole visual acuity 0.3 LogMAR\n", + " definition of HP:0030571 (Pinhole visual acuity 0.3 LogMAR)\n", + " \n", + " \n", + " Reduced circulating interleukin 23 concentration\n", + " definition of HP:0034171 (Reduced circulating interleukin 23 concentration)\n", + " \n", + " \n", + " An abnormally decreased concentration of interleukin 23 in the blood circulation.\n", + " definition of HP:0034171 (Reduced circulating interleukin 23 concentration)\n", + " \n", + " \n", + " Elevated urinary 2,4-dihydroxybutyric acid level\n", + " definition of HP:6000992 (Elevated urinary 2,4-dihydroxybutyric acid level)\n", + " \n", + " \n", + " The amount of 2,4-dihydroxybutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000992 (Elevated urinary 2,4-dihydroxybutyric acid level)\n", + " \n", + " \n", + " Hypoactive bowel sounds\n", + " definition of HP:0030144 (Hypoactive bowel sounds)\n", + " \n", + " \n", + " An decreased amount of bowel sounds.\n", + " definition of HP:0030144 (Hypoactive bowel sounds)\n", + " \n", + " \n", + " #Decreased bowel sounds\n", + " definition of HP:0030144 (Hypoactive bowel sounds)\n", + " \n", + " \n", + " Anterior chamber synechiae\n", + " definition of HP:0007833 (Anterior chamber synechiae)\n", + " \n", + " \n", + " Nasal dysarthria\n", + " definition of HP:0008376 (Nasal dysarthria)\n", + " \n", + " \n", + " #Breathy speech\n", + " definition of HP:0008376 (Nasal dysarthria)\n", + " \n", + " \n", + " Bounding pulse\n", + " definition of HP:0032555 (Bounding pulse)\n", + " \n", + " \n", + " Increased amplitude (strength) of the pulse.\n", + " definition of HP:0032555 (Bounding pulse)\n", + " \n", + " \n", + " Total ophthalmoplegia\n", + " definition of HP:0007824 (Total ophthalmoplegia)\n", + " \n", + " \n", + " Paralysis of both the extrinsic and intrinsic ocular muscles.\n", + " definition of HP:0007824 (Total ophthalmoplegia)\n", + " \n", + " \n", + " #Complete ophthalmoplegia #Global paralysis of gaze #Total internal and external ophthalmoplegia\n", + " definition of HP:0007824 (Total ophthalmoplegia)\n", + " \n", + " \n", + " Disjointed sentences\n", + " definition of HP:5200006 (Disjointed sentences)\n", + " \n", + " \n", + " Persistent abnormalities in the sentence structure in speech, phrases may not be logically connected to each other, gives the impression of rambling. This may be a characteristic feature of the individual or may be a change from the norm of the affected individual.\n", + " definition of HP:5200006 (Disjointed sentences)\n", + " \n", + " \n", + " #Loose association\n", + " definition of HP:5200006 (Disjointed sentences)\n", + " \n", + " \n", + " Anti-factor H antibody positivity\n", + " definition of HP:6000499 (Anti-factor H antibody positivity)\n", + " \n", + " \n", + " The presence of an antibody in the blood circulation that is directed against factor H.\n", + " definition of HP:6000499 (Anti-factor H antibody positivity)\n", + " \n", + " \n", + " #Anti-FH antibody positivity\n", + " definition of HP:6000499 (Anti-factor H antibody positivity)\n", + " \n", + " \n", + " Patchy sclerosis of the distal phalanx of the 3rd finger\n", + " definition of HP:0009425 (Patchy sclerosis of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Uneven (irregular) increase in bone density of the distal phalanx of the third finger.\n", + " definition of HP:0009425 (Patchy sclerosis of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Uneven increase in bone density in the outermost bone of the 3rd finger\n", + " definition of HP:0009425 (Patchy sclerosis of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Fungal hyphae in sputum\n", + " definition of HP:0034404 (Fungal hyphae in sputum)\n", + " \n", + " \n", + " Presence of hyphae (long, branching, filamentous structures produced by fungi) in sputum.\n", + " definition of HP:0034404 (Fungal hyphae in sputum)\n", + " \n", + " \n", + " Symphalangism affecting the middle phalanges of the toes\n", + " definition of HP:0010200 (Symphalangism affecting the middle phalanges of the toes)\n", + " \n", + " \n", + " #Fused middle bones of toes\n", + " definition of HP:0010200 (Symphalangism affecting the middle phalanges of the toes)\n", + " \n", + " \n", + " Multiple muscular ventricular septal defects\n", + " definition of HP:0011625 (Multiple muscular ventricular septal defects)\n", + " \n", + " \n", + " A type of muscular ventricular septal defect characterized by the presence of multiple small defects in the ventricular septum.\n", + " definition of HP:0011625 (Multiple muscular ventricular septal defects)\n", + " \n", + " \n", + " #Swiss cheese ventricular septal defect\n", + " definition of HP:0011625 (Multiple muscular ventricular septal defects)\n", + " \n", + " \n", + " Abnormal sialylation of N-linked protein glycosylation\n", + " definition of HP:0012349 (Abnormal sialylation of N-linked protein glycosylation)\n", + " \n", + " \n", + " An anomaly of the addition of sialic acids to N-linked glycans.\n", + " definition of HP:0012349 (Abnormal sialylation of N-linked protein glycosylation)\n", + " \n", + " \n", + " Vertical incomitant strabismus\n", + " definition of HP:0020043 (Vertical incomitant strabismus)\n", + " \n", + " \n", + " A type of incomitant strabismus in which the angle of deviation varies as the patient's gaze shifts upwards and/or downwards.\n", + " definition of HP:0020043 (Vertical incomitant strabismus)\n", + " \n", + " \n", + " Increased serum leptin\n", + " definition of HP:0031793 (Increased serum leptin)\n", + " \n", + " \n", + " An increased concentration of leptin in the blood.\n", + " definition of HP:0031793 (Increased serum leptin)\n", + " \n", + " \n", + " #Elevated circulating leptin level\n", + " definition of HP:0031793 (Increased serum leptin)\n", + " \n", + " \n", + " REM sleep behavior disorder\n", + " definition of HP:5200291 (REM sleep behavior disorder)\n", + " \n", + " \n", + " REM Sleep Behavior Disorder (RBD) is a chronic sleep condition characterized by dream enactment and loss of REM atonia.\n", + " definition of HP:5200291 (REM sleep behavior disorder)\n", + " \n", + " \n", + " #Rapid eye movement sleep behavior disorder #Rapid eye movement sleep behaviour disorder #RBD #REM sleep behavior disorder #REM sleep behaviour disorder #Sleep enactment\n", + " definition of HP:5200291 (REM sleep behavior disorder)\n", + " \n", + " \n", + " Stippling of the epiphysis of the middle phalanx of the 5th toe\n", + " definition of HP:0100222 (Stippling of the epiphysis of the middle phalanx of the 5th toe)\n", + " \n", + " \n", + " The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 5th toe.\n", + " definition of HP:0100222 (Stippling of the epiphysis of the middle phalanx of the 5th toe)\n", + " \n", + " \n", + " #Speckled calcifications in end part of the innermost bone of the pinkie toe #Speckled calcifications in middle part of the innermost bone of the little toe #Speckled calcifications in middle part of the innermost bone of the pinky toe\n", + " definition of HP:0100222 (Stippling of the epiphysis of the middle phalanx of the 5th toe)\n", + " \n", + " \n", + " Abnormality of the common coagulation pathway\n", + " definition of HP:0010990 (Abnormality of the common coagulation pathway)\n", + " \n", + " \n", + " An abnormality of blood coagulation, common pathway.\n", + " definition of HP:0010990 (Abnormality of the common coagulation pathway)\n", + " \n", + " \n", + " Small thumb epiphysis\n", + " definition of HP:0009694 (Small thumb epiphysis)\n", + " \n", + " \n", + " Abnormally small size of one or more of the epiphyses of the thumb with respect to age-dependent norms.\n", + " definition of HP:0009694 (Small thumb epiphysis)\n", + " \n", + " \n", + " #Small end part of thumb long bone #Small epiphyses of the thumb\n", + " definition of HP:0009694 (Small thumb epiphysis)\n", + " \n", + " \n", + " Abnormality of the tongue muscle\n", + " definition of HP:0040173 (Abnormality of the tongue muscle)\n", + " \n", + " \n", + " #Abnormality of lingual muscle #Abnormality of the tongue muscle\n", + " definition of HP:0040173 (Abnormality of the tongue muscle)\n", + " \n", + " \n", + " Multiple prenatal fractures\n", + " definition of HP:0005855 (Multiple prenatal fractures)\n", + " \n", + " \n", + " The presence of bone fractures in the prenatal period that are diagnosed at birth or before.\n", + " definition of HP:0005855 (Multiple prenatal fractures)\n", + " \n", + " \n", + " #Congenital bone fractures #Multiple fractures present at birth #Multiple fractures, present at birth #Numerous multiple fractures present at birth #Numerous multiple fractures that are present at birth\n", + " definition of HP:0005855 (Multiple prenatal fractures)\n", + " \n", + " \n", + " Decreased erythrocyte fructose-1,6-bisphosphate aldolase activity\n", + " definition of HP:6000555 (Decreased erythrocyte fructose-1,6-bisphosphate aldolase activity)\n", + " \n", + " \n", + " Activity or concentration of fructose-1,6-bisphosphate aldolase (EC 4.1.2.13) in red blood cells below the lower limit of normal.\n", + " definition of HP:6000555 (Decreased erythrocyte fructose-1,6-bisphosphate aldolase activity)\n", + " \n", + " \n", + " Abnormality of skeletal muscle fiber size\n", + " definition of HP:0012084 (Abnormality of skeletal muscle fiber size)\n", + " \n", + " \n", + " Any abnormality of the size of the skeletal muscle cell.\n", + " definition of HP:0012084 (Abnormality of skeletal muscle fiber size)\n", + " \n", + " \n", + " #Abnormality of skeletal muscle fibre size\n", + " definition of HP:0012084 (Abnormality of skeletal muscle fiber size)\n", + " \n", + " \n", + " Anemia\n", + " definition of HP:0001903 (Anemia)\n", + " \n", + " \n", + " A reduction in erythrocytes volume or hemoglobin concentration.\n", + " definition of HP:0001903 (Anemia)\n", + " \n", + " \n", + " #Anaemia #Low number of red blood cells or haemoglobin #Low number of red blood cells or hemoglobin\n", + " definition of HP:0001903 (Anemia)\n", + " \n", + " \n", + " Decreased lymph-node cellular CD19 expression\n", + " definition of HP:0020293 (Decreased lymph-node cellular CD19 expression)\n", + " \n", + " \n", + " Decreased levels of CD19 expression compared to normal B cells.\n", + " definition of HP:0020293 (Decreased lymph-node cellular CD19 expression)\n", + " \n", + " \n", + " White eyebrow\n", + " definition of HP:0002226 (White eyebrow)\n", + " \n", + " \n", + " White color (lack of pigmentation) of the eyebrow.\n", + " definition of HP:0002226 (White eyebrow)\n", + " \n", + " \n", + " #Depigmented eyebrow #Hypopigmented eyebrow #Pale eyebrow #White eyebrow\n", + " definition of HP:0002226 (White eyebrow)\n", + " \n", + " \n", + " Stiff elbow\n", + " definition of HP:0025259 (Stiff elbow)\n", + " \n", + " \n", + " A sensation of tightness in the elbow joint when attempting to move it, especially after a period of inactivity.\n", + " definition of HP:0025259 (Stiff elbow)\n", + " \n", + " \n", + " #Elbow stiffness #Stiff elbow\n", + " definition of HP:0025259 (Stiff elbow)\n", + " \n", + " \n", + " Vaginal neoplasm\n", + " definition of HP:0100650 (Vaginal neoplasm)\n", + " \n", + " \n", + " A tumor (abnormal growth of tissue) of the vagina.\n", + " definition of HP:0100650 (Vaginal neoplasm)\n", + " \n", + " \n", + " #Vaginal tumor #Vaginal tumour\n", + " definition of HP:0100650 (Vaginal neoplasm)\n", + " \n", + " \n", + " Abnormality of the cervical spine\n", + " definition of HP:0003319 (Abnormality of the cervical spine)\n", + " \n", + " \n", + " Any abnormality of the cervical vertebral column.\n", + " definition of HP:0003319 (Abnormality of the cervical spine)\n", + " \n", + " \n", + " #Abnormal cervical spine #Abnormality of cervical vertebra #Abnormality of the cervical vertebrae #Cervical spine abnormalities #Cervical vertebral abnormalities #Disorder of cervical vertebra\n", + " definition of HP:0003319 (Abnormality of the cervical spine)\n", + " \n", + " \n", + " Cutis marmorata telangiectatica congenita\n", + " definition of HP:0025107 (Cutis marmorata telangiectatica congenita)\n", + " \n", + " \n", + " A congenital vascular malformation that presents as localized or generalized erythematous-telangiectatic lesions with a reticular pattern; the lesions are almost always present at birth or develop in the first days of life. Cutis marmorata telangiectatica congenita (CMTC) appears as marble-like pattern (mottling) on the surface of the skin. In contrast to cutis marmorata, the marbling is more severe and always visible.\n", + " definition of HP:0025107 (Cutis marmorata telangiectatica congenita)\n", + " \n", + " \n", + " Decreased proportion of CD4-positive, alpha-beta memory T cells\n", + " definition of HP:0410386 (Decreased proportion of CD4-positive, alpha-beta memory T cells)\n", + " \n", + " \n", + " Decresaed proportion of CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CD45RO-positive and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.\n", + " definition of HP:0410386 (Decreased proportion of CD4-positive, alpha-beta memory T cells)\n", + " \n", + " \n", + " Elevated urinary thymidine level\n", + " definition of HP:6000128 (Elevated urinary thymidine level)\n", + " \n", + " \n", + " The amount of thymidine in the urine, normalized for urine concentration, is below the lower limit of normal.\n", + " definition of HP:6000128 (Elevated urinary thymidine level)\n", + " \n", + " \n", + " Elevated urinary 5-hydroxyhexanoic acid level\n", + " definition of HP:0025734 (Elevated urinary 5-hydroxyhexanoic acid level)\n", + " \n", + " \n", + " The amount of 5-hydroxyhexanoic acid in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:0025734 (Elevated urinary 5-hydroxyhexanoic acid level)\n", + " \n", + " \n", + " Webbed penis\n", + " definition of HP:0030264 (Webbed penis)\n", + " \n", + " \n", + " Ventral skinfold extending from penis to scrotum.\n", + " definition of HP:0030264 (Webbed penis)\n", + " \n", + " \n", + " #Webbed penis\n", + " definition of HP:0030264 (Webbed penis)\n", + " \n", + " \n", + " Paroxysmal tonic upgaze\n", + " definition of HP:0033980 (Paroxysmal tonic upgaze)\n", + " \n", + " \n", + " Recurrent episodes of sustained upward deviation of the eyes and incomplete downward saccades, and normal horizontal eye movements without impairment of consciousness.\n", + " definition of HP:0033980 (Paroxysmal tonic upgaze)\n", + " \n", + " \n", + " Midline brain calcifications\n", + " definition of HP:0007045 (Midline brain calcifications)\n", + " \n", + " \n", + " Congenital knee dislocation\n", + " definition of HP:0005191 (Congenital knee dislocation)\n", + " \n", + " \n", + " #Dislocated knee since birth\n", + " definition of HP:0005191 (Congenital knee dislocation)\n", + " \n", + " \n", + " Vegetative state\n", + " definition of HP:0031358 (Vegetative state)\n", + " \n", + " \n", + " The absence of wakefulness and consciousness, but in contrast to a coma, there is involuntary opening of the eyes and movements such as teeth grinding, yawning, or thrashing of the extremities.\n", + " definition of HP:0031358 (Vegetative state)\n", + " \n", + " \n", + " #Unresponsive wakefulness\n", + " definition of HP:0031358 (Vegetative state)\n", + " \n", + " \n", + " Anomalous branches of internal carotid artery\n", + " definition of HP:0005314 (Anomalous branches of internal carotid artery)\n", + " \n", + " \n", + " Abnormal premolar morphology\n", + " definition of HP:0011080 (Abnormal premolar morphology)\n", + " \n", + " \n", + " An abnormality of morphology of premolar tooth.\n", + " definition of HP:0011080 (Abnormal premolar morphology)\n", + " \n", + " \n", + " #Abnormality of bicuspid morphology #Abnormality of premolar morphology #Abnormality of shape of bicuspid #Abnormality of shape of premolar\n", + " definition of HP:0011080 (Abnormal premolar morphology)\n", + " \n", + " \n", + " Abnormal columella morphology\n", + " definition of HP:0009929 (Abnormal columella morphology)\n", + " \n", + " \n", + " A structural abnormality of the columella.\n", + " definition of HP:0009929 (Abnormal columella morphology)\n", + " \n", + " \n", + " #Abnormality of the columella #Anomaly of the columella\n", + " definition of HP:0009929 (Abnormal columella morphology)\n", + " \n", + " \n", + " IgM heavy chain paraproteinemia\n", + " definition of HP:0020196 (IgM heavy chain paraproteinemia)\n", + " \n", + " \n", + " An abnormal IgM heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells.\n", + " definition of HP:0020196 (IgM heavy chain paraproteinemia)\n", + " \n", + " \n", + " Macroorchidism\n", + " definition of HP:0000053 (Macroorchidism)\n", + " \n", + " \n", + " The presence of abnormally large testes.\n", + " definition of HP:0000053 (Macroorchidism)\n", + " \n", + " \n", + " #Large testicles #Large testis\n", + " definition of HP:0000053 (Macroorchidism)\n", + " \n", + " \n", + " Lack of insight\n", + " definition of HP:0000757 (Lack of insight)\n", + " \n", + " \n", + " Lack of insight (Anosognosia) is a neurological condition in which an individual is unaware of his or her own neurological deficit or psychiatric condition. Anosognosia can be associated with mental illness, dementia, and structural brain lesions and can affect an individual's conscious awareness of deficits involving judgment, emotions, memory, executive function, language skills, and motor ability.\n", + " definition of HP:0000757 (Lack of insight)\n", + " \n", + " \n", + " #Anosognosia #Lack of insight\n", + " definition of HP:0000757 (Lack of insight)\n", + " \n", + " \n", + " Unconjugated hyperbilirubinemia\n", + " definition of HP:0008282 (Unconjugated hyperbilirubinemia)\n", + " \n", + " \n", + " An increased amount of unconjugated (indirect) bilurubin in the blood.\n", + " definition of HP:0008282 (Unconjugated hyperbilirubinemia)\n", + " \n", + " \n", + " Episodic hypertension\n", + " definition of HP:0000875 (Episodic hypertension)\n", + " \n", + " \n", + " #Intermittent high blood pressure\n", + " definition of HP:0000875 (Episodic hypertension)\n", + " \n", + " \n", + " Corneal erosion\n", + " definition of HP:0200020 (Corneal erosion)\n", + " \n", + " \n", + " An erosion or abrasion of the cornea's outermost layer of epithelial cells.\n", + " definition of HP:0200020 (Corneal erosion)\n", + " \n", + " \n", + " #Damage to outer layer of the cornea of the eye\n", + " definition of HP:0200020 (Corneal erosion)\n", + " \n", + " \n", + " Cervical (neck)\n", + " definition of HP:0032535 (Cervical (neck))\n", + " \n", + " \n", + " Applies to an abnormality that is situated in the neck.\n", + " definition of HP:0032535 (Cervical (neck))\n", + " \n", + " \n", + " Amyotrophy of the musculature of the pelvis\n", + " definition of HP:0003665 (Amyotrophy of the musculature of the pelvis)\n", + " \n", + " \n", + " Muscular atrophy affecting the muscles of the pelvis.\n", + " definition of HP:0003665 (Amyotrophy of the musculature of the pelvis)\n", + " \n", + " \n", + " Abnormal vertical rectus muscle physiology\n", + " definition of HP:0031748 (Abnormal vertical rectus muscle physiology)\n", + " \n", + " \n", + " A functional anomaly of the superior or inferior rectus muscle.\n", + " definition of HP:0031748 (Abnormal vertical rectus muscle physiology)\n", + " \n", + " \n", + " Fingerprint intracellular accumulation of autofluorescent lipopigment storage material\n", + " definition of HP:0003208 (Fingerprint intracellular accumulation of autofluorescent lipopigment storage material)\n", + " \n", + " \n", + " An intracellular accumulation of autofluorescent lipopigment storage material in a trabecular or fingerprint-like pattern.\n", + " definition of HP:0003208 (Fingerprint intracellular accumulation of autofluorescent lipopigment storage material)\n", + " \n", + " \n", + " #Fingerprint profiles ultrastructurally #Fingerprint profiles ultrastructurally in cells\n", + " definition of HP:0003208 (Fingerprint intracellular accumulation of autofluorescent lipopigment storage material)\n", + " \n", + " \n", + " Partial diaphragmatic absence of pericardium\n", + " definition of HP:0011635 (Partial diaphragmatic absence of pericardium)\n", + " \n", + " \n", + " Lack of a part of the pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart.\n", + " definition of HP:0011635 (Partial diaphragmatic absence of pericardium)\n", + " \n", + " \n", + " Vaginal hydrocele\n", + " definition of HP:0100673 (Vaginal hydrocele)\n", + " \n", + " \n", + " A type of hydrocele testis in which the processus vaginalis remains patent only around the testes, and, as fluid accumulates, it renders the testes impalpable.\n", + " definition of HP:0100673 (Vaginal hydrocele)\n", + " \n", + " \n", + " Absent fingernail\n", + " definition of HP:0001817 (Absent fingernail)\n", + " \n", + " \n", + " Absence of a fingernail.\n", + " definition of HP:0001817 (Absent fingernail)\n", + " \n", + " \n", + " #Absent fingernail #Aplasia of the fingernail\n", + " definition of HP:0001817 (Absent fingernail)\n", + " \n", + " \n", + " Triangular nasal tip\n", + " definition of HP:0000451 (Triangular nasal tip)\n", + " \n", + " \n", + " #Triangular nasal tip #Triangular shaped tip of nose\n", + " definition of HP:0000451 (Triangular nasal tip)\n", + " \n", + " \n", + " Decreased circulating glycerol level\n", + " definition of HP:0031794 (Decreased circulating glycerol level)\n", + " \n", + " \n", + " A decrease below the normal concentration of glycerol in the blood.\n", + " definition of HP:0031794 (Decreased circulating glycerol level)\n", + " \n", + " \n", + " Enlarged sperm head vacuole\n", + " definition of HP:0034842 (Enlarged sperm head vacuole)\n", + " \n", + " \n", + " Increased size of sperm vacuoles, which are surface concavities typically located at the the tip or middle area of sperm heads. According to the WHO Laboratory Manual for the Examination and Processing of Human Semen, sperm head vacuoles are considered abnormal when exceeding 20% of the cross-sectional area of the head. Vacuoles are found in almost all samples with normal sperm morphology; this term applies if the proportion of sperm with abnormally large vacuoles is above the upper limit of normal.\n", + " definition of HP:0034842 (Enlarged sperm head vacuole)\n", + " \n", + " \n", + " Abnormal labia majora morphology\n", + " definition of HP:0012881 (Abnormal labia majora morphology)\n", + " \n", + " \n", + " An anomaly of the outer labia.\n", + " definition of HP:0012881 (Abnormal labia majora morphology)\n", + " \n", + " \n", + " #Abnormality of the labia majora #Abnormality of vaginal lips\n", + " definition of HP:0012881 (Abnormal labia majora morphology)\n", + " \n", + " \n", + " Blood group antigen abnormality\n", + " definition of HP:0010970 (Blood group antigen abnormality)\n", + " \n", + " \n", + " An abnormality of an erythrocyte cell surface molecule.\n", + " definition of HP:0010970 (Blood group antigen abnormality)\n", + " \n", + " \n", + " Straight clavicles\n", + " definition of HP:0006587 (Straight clavicles)\n", + " \n", + " \n", + " An abnormally straight configuration of the clavicle, a tubular bone which normally is doubly curved .\n", + " definition of HP:0006587 (Straight clavicles)\n", + " \n", + " \n", + " #Straight collarbone\n", + " definition of HP:0006587 (Straight clavicles)\n", + " \n", + " \n", + " Abnormal saccule morphology\n", + " definition of HP:0040110 (Abnormal saccule morphology)\n", + " \n", + " \n", + " #Morphological abnormality of the saccule\n", + " definition of HP:0040110 (Abnormal saccule morphology)\n", + " \n", + " \n", + " Small humeral epiphyses\n", + " definition of HP:0003900 (Small humeral epiphyses)\n", + " \n", + " \n", + " #Small end part of long bone in upper arm\n", + " definition of HP:0003900 (Small humeral epiphyses)\n", + " \n", + " \n", + " Positive cutaneous herpes simplex virus nucleic acid test\n", + " definition of HP:6000541 (Positive cutaneous herpes simplex virus nucleic acid test)\n", + " \n", + " \n", + " Detection of cutaneous herpes simplex virus nucleic acid in the skin by a method such as polymerase chain reaction. The sample is usually obtained by cutaneous swabs from skin lesions.\n", + " definition of HP:6000541 (Positive cutaneous herpes simplex virus nucleic acid test)\n", + " \n", + " \n", + " Elevated circulating saccharopine concentration\n", + " definition of HP:0034026 (Elevated circulating saccharopine concentration)\n", + " \n", + " \n", + " An increased concentration of saccharopine in the blood circulation. L-saccharopine is the N(6)-(1,3-dicarboxypropan-1-yl) derivative of L-lysine.\n", + " definition of HP:0034026 (Elevated circulating saccharopine concentration)\n", + " \n", + " \n", + " Restricted tongue movement\n", + " definition of HP:0025748 (Restricted tongue movement)\n", + " \n", + " \n", + " Limited ability to move the tongue related to mechanical restrictions such as akyloglossia and not associated with tongue muscle weakness.\n", + " definition of HP:0025748 (Restricted tongue movement)\n", + " \n", + " \n", + " Increased CSF/serum albumin ratio\n", + " definition of HP:0025459 (Increased CSF/serum albumin ratio)\n", + " \n", + " \n", + " An increase above normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration.\n", + " definition of HP:0025459 (Increased CSF/serum albumin ratio)\n", + " \n", + " \n", + " Sclerotic radial epiphyses\n", + " definition of HP:0004007 (Sclerotic radial epiphyses)\n", + " \n", + " \n", + " Abnormality of tibial epiphyses\n", + " definition of HP:0006508 (Abnormality of tibial epiphyses)\n", + " \n", + " \n", + " #Abnormality of end part of shinbone\n", + " definition of HP:0006508 (Abnormality of tibial epiphyses)\n", + " \n", + " \n", + " Abnormal renal collecting system morphology\n", + " definition of HP:0004742 (Abnormal renal collecting system morphology)\n", + " \n", + " \n", + " An abnormality of the renal collecting system.\n", + " definition of HP:0004742 (Abnormal renal collecting system morphology)\n", + " \n", + " \n", + " #Abnormal collecting system #Abnormality of the renal collecting system #Renal collecting system anomalies\n", + " definition of HP:0004742 (Abnormal renal collecting system morphology)\n", + " \n", + " \n", + " Abnormal proximal femoral metaphysis morphology\n", + " definition of HP:0006431 (Abnormal proximal femoral metaphysis morphology)\n", + " \n", + " \n", + " An anomaly of the metaphysis of the proximal femur (close to the hip).\n", + " definition of HP:0006431 (Abnormal proximal femoral metaphysis morphology)\n", + " \n", + " \n", + " #Abnormal wide portion of innermost thighbone #Proximal femoral metaphyseal abnormality\n", + " definition of HP:0006431 (Abnormal proximal femoral metaphysis morphology)\n", + " \n", + " \n", + " Recurrent bacterial upper respiratory tract infections\n", + " definition of HP:0031949 (Recurrent bacterial upper respiratory tract infections)\n", + " \n", + " \n", + " An increased susceptibility to bacterial upper respiratory tract infections as manifested by a history of recurrent bacterial upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).\n", + " definition of HP:0031949 (Recurrent bacterial upper respiratory tract infections)\n", + " \n", + " \n", + " #Recurrent bacterial URI\n", + " definition of HP:0031949 (Recurrent bacterial upper respiratory tract infections)\n", + " \n", + " \n", + " Enlarged humeral metaphyses\n", + " definition of HP:0003910 (Enlarged humeral metaphyses)\n", + " \n", + " \n", + " #Enlarged wide portion of long bone of upper arm #Expanded humeral metaphyses\n", + " definition of HP:0003910 (Enlarged humeral metaphyses)\n", + " \n", + " \n", + " Periodic hyperkalemic paralysis\n", + " definition of HP:0007215 (Periodic hyperkalemic paralysis)\n", + " \n", + " \n", + " Episodes of muscle weakness associated with elevated levels of potassium in the blood.\n", + " definition of HP:0007215 (Periodic hyperkalemic paralysis)\n", + " \n", + " \n", + " #Hyperkalemic periodic paralysis\n", + " definition of HP:0007215 (Periodic hyperkalemic paralysis)\n", + " \n", + " \n", + " Stippling of the epiphyses of the 4th toe\n", + " definition of HP:0100075 (Stippling of the epiphyses of the 4th toe)\n", + " \n", + " \n", + " The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th toe.\n", + " definition of HP:0100075 (Stippling of the epiphyses of the 4th toe)\n", + " \n", + " \n", + " #Speckled calcifications in the end part of the 4th toe bone\n", + " definition of HP:0100075 (Stippling of the epiphyses of the 4th toe)\n", + " \n", + " \n", + " Increased total bilirubin\n", + " definition of HP:0003573 (Increased total bilirubin)\n", + " \n", + " \n", + " Increased concentration of total (conjugated and unconjugated) bilirubin in the blood.\n", + " definition of HP:0003573 (Increased total bilirubin)\n", + " \n", + " \n", + " #High bili total #Increased bilirubin\n", + " definition of HP:0003573 (Increased total bilirubin)\n", + " \n", + " \n", + " Impaired temperature sensation\n", + " definition of HP:0010829 (Impaired temperature sensation)\n", + " \n", + " \n", + " A reduced ability to discriminate between different temperatures.\n", + " definition of HP:0010829 (Impaired temperature sensation)\n", + " \n", + " \n", + " #Abnormality of temperature sensation #Impaired temperature sensation #Impaired thermal sensitivity #Loss of temperature sensation\n", + " definition of HP:0010829 (Impaired temperature sensation)\n", + " \n", + " \n", + " Asthenopia\n", + " definition of HP:0031590 (Asthenopia)\n", + " \n", + " \n", + " Eye strain, i.e., a feeling of fatigue or discomfort of the eyes related to 'overuse' of the eyes in activities such as reading or working at the computer and often accompanied by lacrimation or headache.\n", + " definition of HP:0031590 (Asthenopia)\n", + " \n", + " \n", + " #Eye strain\n", + " definition of HP:0031590 (Asthenopia)\n", + " \n", + " \n", + " Focal aware tonic seizure\n", + " definition of HP:0032722 (Focal aware tonic seizure)\n", + " \n", + " \n", + " A type of focal tonic seizure during which awareness is fully retained throughout.\n", + " definition of HP:0032722 (Focal aware tonic seizure)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the 4th finger\n", + " definition of HP:0009272 (Aplasia/Hypoplasia of the 4th finger)\n", + " \n", + " \n", + " A small/hypoplastic or absent/aplastic 4th (ring) finger.\n", + " definition of HP:0009272 (Aplasia/Hypoplasia of the 4th finger)\n", + " \n", + " \n", + " #Absent/small ring finger bone #Absent/underdeveloped ring finger bone\n", + " definition of HP:0009272 (Aplasia/Hypoplasia of the 4th finger)\n", + " \n", + " \n", + " Anti-BP230 antibody positivity\n", + " definition of HP:4000019 (Anti-BP230 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against BP230.\n", + " definition of HP:4000019 (Anti-BP230 antibody positivity)\n", + " \n", + " \n", + " Decreased CSF metanephrine concentration\n", + " definition of HP:0034877 (Decreased CSF metanephrine concentration)\n", + " \n", + " \n", + " Concentration of metanephrine in the cerebrospinal fluid below the lower limit of normal.\n", + " definition of HP:0034877 (Decreased CSF metanephrine concentration)\n", + " \n", + " \n", + " Hyperplastic colonic polyposis\n", + " definition of HP:0012183 (Hyperplastic colonic polyposis)\n", + " \n", + " \n", + " Presence of multiple hyperplastic polyps in the colon. Hyperplastic polyps are generally about 5 mm in size and show hyperplastic mucosal proliferation.\n", + " definition of HP:0012183 (Hyperplastic colonic polyposis)\n", + " \n", + " \n", + " Reduced circulating interleukin 17A concentration\n", + " definition of HP:0034177 (Reduced circulating interleukin 17A concentration)\n", + " \n", + " \n", + " An abnormally decreased concentration of interleukin 17A in the blood circulation.\n", + " definition of HP:0034177 (Reduced circulating interleukin 17A concentration)\n", + " \n", + " \n", + " Abnormal antihelix morphology\n", + " definition of HP:0009738 (Abnormal antihelix morphology)\n", + " \n", + " \n", + " An abnormality of the antihelix.\n", + " definition of HP:0009738 (Abnormal antihelix morphology)\n", + " \n", + " \n", + " #Abnormal antehelix #Abnormal anthelix #Abnormal antihelix\n", + " definition of HP:0009738 (Abnormal antihelix morphology)\n", + " \n", + " \n", + " Abnormal urine guanidinoacetic acid level\n", + " definition of HP:0040418 (Abnormal urine guanidinoacetic acid level)\n", + " \n", + " \n", + " The concentration of guanidinoacetic acid in the urine, normalized for urine concentration, is outside normal limits.\n", + " definition of HP:0040418 (Abnormal urine guanidinoacetic acid level)\n", + " \n", + " \n", + " Posterior subcapsular cataract\n", + " definition of HP:0007787 (Posterior subcapsular cataract)\n", + " \n", + " \n", + " A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule.\n", + " definition of HP:0007787 (Posterior subcapsular cataract)\n", + " \n", + " \n", + " #Posterior subcapsular opacities of the lens\n", + " definition of HP:0007787 (Posterior subcapsular cataract)\n", + " \n", + " \n", + " Pigmentation anomalies of sun-exposed skin\n", + " definition of HP:0007623 (Pigmentation anomalies of sun-exposed skin)\n", + " \n", + " \n", + " #Abnormal pigmentation in sun-exposed skin\n", + " definition of HP:0007623 (Pigmentation anomalies of sun-exposed skin)\n", + " \n", + " \n", + " Subpleural honeycombing\n", + " definition of HP:0031631 (Subpleural honeycombing)\n", + " \n", + " \n", + " So-called honeycombs (variably sized cysts in a background of densely scarred tissue) located in the subpleural space.\n", + " definition of HP:0031631 (Subpleural honeycombing)\n", + " \n", + " \n", + " Truncus arteriosus\n", + " definition of HP:0001660 (Truncus arteriosus)\n", + " \n", + " \n", + " A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract.\n", + " definition of HP:0001660 (Truncus arteriosus)\n", + " \n", + " \n", + " #Common arterial trunk\n", + " definition of HP:0001660 (Truncus arteriosus)\n", + " \n", + " \n", + " Maladaptive fear-related cognitions\n", + " definition of HP:5200230 (Maladaptive fear-related cognitions)\n", + " \n", + " \n", + " Threat-based cognitive biases result in a skewed perception, experience, or processing of internal or external stimuli.\n", + " definition of HP:5200230 (Maladaptive fear-related cognitions)\n", + " \n", + " \n", + " #Abnormal fear #Abnormal fear-related cognitions\n", + " definition of HP:5200230 (Maladaptive fear-related cognitions)\n", + " \n", + " \n", + " Focal T2 hyperintense basal ganglia lesion\n", + " definition of HP:0007183 (Focal T2 hyperintense basal ganglia lesion)\n", + " \n", + " \n", + " A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hyperintensity affecting a particular region of the basal ganglia.\n", + " definition of HP:0007183 (Focal T2 hyperintense basal ganglia lesion)\n", + " \n", + " \n", + " Systolic heart murmur\n", + " definition of HP:0031664 (Systolic heart murmur)\n", + " \n", + " \n", + " A heart murmur limited to systole, i.e., between the first and second heart sounds S1 and S2.\n", + " definition of HP:0031664 (Systolic heart murmur)\n", + " \n", + " \n", + " Anal fissure\n", + " definition of HP:0012390 (Anal fissure)\n", + " \n", + " \n", + " A small tear in the thin, moist tissue (mucosa) that lines the anus. It appears as a crack or slit in the mucous membrane of the anus.\n", + " definition of HP:0012390 (Anal fissure)\n", + " \n", + " \n", + " Fractured calcaneus\n", + " definition of HP:0041061 (Fractured calcaneus)\n", + " \n", + " \n", + " A partial or complete breakage of the calcaneus.\n", + " definition of HP:0041061 (Fractured calcaneus)\n", + " \n", + " \n", + " #bone calcaneus\n", + " definition of HP:0041061 (Fractured calcaneus)\n", + " \n", + " \n", + " Intermittent diarrhea\n", + " definition of HP:0002254 (Intermittent diarrhea)\n", + " \n", + " \n", + " Repeated episodes of diarrhea separated by periods without diarrhea.\n", + " definition of HP:0002254 (Intermittent diarrhea)\n", + " \n", + " \n", + " #Episodic diarrhea #Episodic diarrhoea #Intermittent diarrhoea\n", + " definition of HP:0002254 (Intermittent diarrhea)\n", + " \n", + " \n", + " Tetralogy of Fallot\n", + " definition of HP:0001636 (Tetralogy of Fallot)\n", + " \n", + " \n", + " A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present.\n", + " definition of HP:0001636 (Tetralogy of Fallot)\n", + " \n", + " \n", + " #Tetrology of fallot\n", + " definition of HP:0001636 (Tetralogy of Fallot)\n", + " \n", + " \n", + " Elevated circulating palmitoylcarnitine concentration\n", + " definition of HP:0033382 (Elevated circulating palmitoylcarnitine concentration)\n", + " \n", + " \n", + " Abnormally increased concentration of palmitoylcarnitine in the blood circulation.\n", + " definition of HP:0033382 (Elevated circulating palmitoylcarnitine concentration)\n", + " \n", + " \n", + " #Elevated circulating 16:0 acylcarnitine concentration\n", + " definition of HP:0033382 (Elevated circulating palmitoylcarnitine concentration)\n", + " \n", + " \n", + " Abnormal left ventricle morphology\n", + " definition of HP:0001711 (Abnormal left ventricle morphology)\n", + " \n", + " \n", + " Any structural abnormality of the left ventricle of the heart.\n", + " definition of HP:0001711 (Abnormal left ventricle morphology)\n", + " \n", + " \n", + " #Abnormal heart left ventricle morphology #Abnormality of the left ventricle #Left ventricular abnormality\n", + " definition of HP:0001711 (Abnormal left ventricle morphology)\n", + " \n", + " \n", + " Displaced tracheal bronchus\n", + " definition of HP:0033615 (Displaced tracheal bronchus)\n", + " \n", + " \n", + " Accessory bronchus originating from trachea replacing one of the segmental branches of the anatomically normal upper lobe bronchus.\n", + " definition of HP:0033615 (Displaced tracheal bronchus)\n", + " \n", + " \n", + " Abnormal fetal morphology\n", + " definition of HP:0034058 (Abnormal fetal morphology)\n", + " \n", + " \n", + " Any structural anomaly of the fetus.\n", + " definition of HP:0034058 (Abnormal fetal morphology)\n", + " \n", + " \n", + " #Structural fetal anomaly #Structural foetal anomaly\n", + " definition of HP:0034058 (Abnormal fetal morphology)\n", + " \n", + " \n", + " Circumferential skin creases on extremities\n", + " definition of HP:0034400 (Circumferential skin creases on extremities)\n", + " \n", + " \n", + " Ringed creases of the skin of the extremities related to folding of excess skin.\n", + " definition of HP:0034400 (Circumferential skin creases on extremities)\n", + " \n", + " \n", + " Uterine rupture\n", + " definition of HP:0100718 (Uterine rupture)\n", + " \n", + " \n", + " Positive bloodstream Cysticercosis antigen test\n", + " definition of HP:0430110 (Positive bloodstream Cysticercosis antigen test)\n", + " \n", + " \n", + " Demonstration of an antigen specific to Cysticercosis in the bloodstream.\n", + " definition of HP:0430110 (Positive bloodstream Cysticercosis antigen test)\n", + " \n", + " \n", + " Adrenal medullary hypoplasia\n", + " definition of HP:0008239 (Adrenal medullary hypoplasia)\n", + " \n", + " \n", + " Developmental hypoplasia of the adrenal medulla.\n", + " definition of HP:0008239 (Adrenal medullary hypoplasia)\n", + " \n", + " \n", + " #Small adrenal medulla\n", + " definition of HP:0008239 (Adrenal medullary hypoplasia)\n", + " \n", + " \n", + " Part-solid pulmonary nodule\n", + " definition of HP:0033611 (Part-solid pulmonary nodule)\n", + " \n", + " \n", + " Part-solid pulmonary nodules are nodules that present with both ground-glass and solid components in which the underlying lung architecture cannot be visualized.\n", + " definition of HP:0033611 (Part-solid pulmonary nodule)\n", + " \n", + " \n", + " Cystoid macular degeneration\n", + " definition of HP:0008028 (Cystoid macular degeneration)\n", + " \n", + " \n", + " A form of macular degeneration characterized by the presence of multiple cysts in the macula.\n", + " definition of HP:0008028 (Cystoid macular degeneration)\n", + " \n", + " \n", + " #Cystic macular degeneration\n", + " definition of HP:0008028 (Cystoid macular degeneration)\n", + " \n", + " \n", + " Gastric xanthoma\n", + " definition of HP:0034468 (Gastric xanthoma)\n", + " \n", + " \n", + " Gastric xanthomas (also known as xanthelasmas) are are plaque-like red lesions defined by the presence of histiocytic containing lipids.\n", + " definition of HP:0034468 (Gastric xanthoma)\n", + " \n", + " \n", + " #Gastric xanthomas #Gastric xanthomata\n", + " definition of HP:0034468 (Gastric xanthoma)\n", + " \n", + " \n", + " Portal fibrosis\n", + " definition of HP:0006580 (Portal fibrosis)\n", + " \n", + " \n", + " Fibroblast proliferation and fiber expansion from the portal areas to the lobule.\n", + " definition of HP:0006580 (Portal fibrosis)\n", + " \n", + " \n", + " Irregular sclerosis of hand bones\n", + " definition of HP:0004281 (Irregular sclerosis of hand bones)\n", + " \n", + " \n", + " Increased pulmonary capillary wedge pressure\n", + " definition of HP:0030876 (Increased pulmonary capillary wedge pressure)\n", + " \n", + " \n", + " Pulmonary capillary wedge pressure (PCWP) above 15mmHg.\n", + " definition of HP:0030876 (Increased pulmonary capillary wedge pressure)\n", + " \n", + " \n", + " #Increased pulmonary arterial wedge pressure #Increased pulmonary artery occlusion pressure\n", + " definition of HP:0030876 (Increased pulmonary capillary wedge pressure)\n", + " \n", + " \n", + " Left ventricular aneurysm\n", + " definition of HP:6000144 (Left ventricular aneurysm)\n", + " \n", + " \n", + " A severely scarred portion of infarcted ventricular myocardium that does not contract normally but instead bulges outward while the rest of the ventricle contracts during systole.\n", + " definition of HP:6000144 (Left ventricular aneurysm)\n", + " \n", + " \n", + " Reduced erythrocyte hexokinase activity\n", + " definition of HP:6000559 (Reduced erythrocyte hexokinase activity)\n", + " \n", + " \n", + " Activity or concentration of hexokinase (EC 2.7.1.1) in red blood cells below the lower limit of normal. Arginase catalyzes the last step of the urea cycle.\n", + " definition of HP:6000559 (Reduced erythrocyte hexokinase activity)\n", + " \n", + " \n", + " Fecolith\n", + " definition of HP:6000142 (Fecolith)\n", + " \n", + " \n", + " A mass of accumulated hardened fecal matter.\n", + " definition of HP:6000142 (Fecolith)\n", + " \n", + " \n", + " #Coprolith #Fecaloma #Stercolith\n", + " definition of HP:6000142 (Fecolith)\n", + " \n", + " \n", + " Positive enterovirus urine nucleic acid test\n", + " definition of HP:0034892 (Positive enterovirus urine nucleic acid test)\n", + " \n", + " \n", + " Detection of enterovirus nucleic acid in the urine by a method such as polymerase chain reaction.\n", + " definition of HP:0034892 (Positive enterovirus urine nucleic acid test)\n", + " \n", + " \n", + " #Enterovirus RT-PCR in urine\n", + " definition of HP:0034892 (Positive enterovirus urine nucleic acid test)\n", + " \n", + " \n", + " Cutaneous anergy\n", + " definition of HP:0002965 (Cutaneous anergy)\n", + " \n", + " \n", + " Inability to react to a delayed hypersensitivity skin test.\n", + " definition of HP:0002965 (Cutaneous anergy)\n", + " \n", + " \n", + " #Absence of delayed hypersensitivity skin test #Lack of delayed skin hypersensitivity reaction\n", + " definition of HP:0002965 (Cutaneous anergy)\n", + " \n", + " \n", + " Thick hair\n", + " definition of HP:0100874 (Thick hair)\n", + " \n", + " \n", + " Increased density of hairs, i.e., and elevated number of hairs per unit area.\n", + " definition of HP:0100874 (Thick hair)\n", + " \n", + " \n", + " #Increased follicular density #Increased hair density #Thick hair\n", + " definition of HP:0100874 (Thick hair)\n", + " \n", + " \n", + " Abnormal umbilical artery doppler waveform during pregnancy\n", + " definition of HP:0025715 (Abnormal umbilical artery doppler waveform during pregnancy)\n", + " \n", + " \n", + " Abnormal waveforms the Doppler sonographic examination of bloodflow in the umbilical artery. vUmbilical arterial Doppler assessment is used in surveillance of fetal health in the third trimester.\n", + " definition of HP:0025715 (Abnormal umbilical artery doppler waveform during pregnancy)\n", + " \n", + " \n", + " Hypoplastic areola\n", + " definition of HP:0100853 (Hypoplastic areola)\n", + " \n", + " \n", + " Underdevelopment of the areola, the circular area of pigmented skin surrounding the nipple.\n", + " definition of HP:0100853 (Hypoplastic areola)\n", + " \n", + " \n", + " #Hypoplastic areolae\n", + " definition of HP:0100853 (Hypoplastic areola)\n", + " \n", + " \n", + " Labial hypertrophy\n", + " definition of HP:0000065 (Labial hypertrophy)\n", + " \n", + " \n", + " #Enlarged vaginal lips #Enlargement of the labia #Enlargement of the vaginal lips\n", + " definition of HP:0000065 (Labial hypertrophy)\n", + " \n", + " \n", + " Polydactyly affecting the 3rd toe\n", + " definition of HP:0010334 (Polydactyly affecting the 3rd toe)\n", + " \n", + " \n", + " Ovarian sex cord-stromal tumor\n", + " definition of HP:0031918 (Ovarian sex cord-stromal tumor)\n", + " \n", + " \n", + " A benign or malignant neoplasm that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts.\n", + " definition of HP:0031918 (Ovarian sex cord-stromal tumor)\n", + " \n", + " \n", + " #Ovarian sex cord-stromal tumour\n", + " definition of HP:0031918 (Ovarian sex cord-stromal tumor)\n", + " \n", + " \n", + " Arterial dissection\n", + " definition of HP:0005294 (Arterial dissection)\n", + " \n", + " \n", + " A separation (dissection) of the layers of an artery.\n", + " definition of HP:0005294 (Arterial dissection)\n", + " \n", + " \n", + " Abnormal meniscus morphology\n", + " definition of HP:0032190 (Abnormal meniscus morphology)\n", + " \n", + " \n", + " Abnormal structure of the meniscus of the knee, two crescent shape fibrocartilaginous pads that disperse the weight of the body and reduce friction of the knee joint during movement.\n", + " definition of HP:0032190 (Abnormal meniscus morphology)\n", + " \n", + " \n", + " Costochondral joint sclerosis\n", + " definition of HP:0006623 (Costochondral joint sclerosis)\n", + " \n", + " \n", + " Abnormal increase in density of the tissue at the costochondral junctions.\n", + " definition of HP:0006623 (Costochondral joint sclerosis)\n", + " \n", + " \n", + " #Sclerotic costochondral joints\n", + " definition of HP:0006623 (Costochondral joint sclerosis)\n", + " \n", + " \n", + " Enlarged epiphyses of the phalanges of the hand\n", + " definition of HP:0010231 (Enlarged epiphyses of the phalanges of the hand)\n", + " \n", + " \n", + " Abnormally large size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms.\n", + " definition of HP:0010231 (Enlarged epiphyses of the phalanges of the hand)\n", + " \n", + " \n", + " #Enlarged end part of finger bones #Enlarged epiphyses of the fingers #Enlarged phalangeal epiphyses\n", + " definition of HP:0010231 (Enlarged epiphyses of the phalanges of the hand)\n", + " \n", + " \n", + " Bloody mucoid diarrhea\n", + " definition of HP:0025086 (Bloody mucoid diarrhea)\n", + " \n", + " \n", + " Passage of many stools containing blood and mucus.\n", + " definition of HP:0025086 (Bloody mucoid diarrhea)\n", + " \n", + " \n", + " #Bloody mucoid diarrhea\n", + " definition of HP:0025086 (Bloody mucoid diarrhea)\n", + " \n", + " \n", + " Hypoplastic nasopharyngeal adenoids\n", + " definition of HP:0040258 (Hypoplastic nasopharyngeal adenoids)\n", + " \n", + " \n", + " Underdevelopment of the nasopharyngeal adenoids.\n", + " definition of HP:0040258 (Hypoplastic nasopharyngeal adenoids)\n", + " \n", + " \n", + " #Underdeveloped nasopharyngeal adenoids\n", + " definition of HP:0040258 (Hypoplastic nasopharyngeal adenoids)\n", + " \n", + " \n", + " Uveal melanoma\n", + " definition of HP:0007716 (Uveal melanoma)\n", + " \n", + " \n", + " A malignant melanoma originating within the eye. The tumor originates from the melanocytes in the uvea (which comprises the iris, ciliary body, and choroid).\n", + " definition of HP:0007716 (Uveal melanoma)\n", + " \n", + " \n", + " #Intraocular melanoma\n", + " definition of HP:0007716 (Uveal melanoma)\n", + " \n", + " \n", + " Ileal atresia\n", + " definition of HP:0011102 (Ileal atresia)\n", + " \n", + " \n", + " An abnormal closure, or atresia of the tubular structure of the ileum.\n", + " definition of HP:0011102 (Ileal atresia)\n", + " \n", + " \n", + " Genu varum\n", + " definition of HP:0002970 (Genu varum)\n", + " \n", + " \n", + " A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together.\n", + " definition of HP:0002970 (Genu varum)\n", + " \n", + " \n", + " #Genu vara #Genua vara #Outward bow-leggedness #Outward bowing at knees\n", + " definition of HP:0002970 (Genu varum)\n", + " \n", + " \n", + " Anti-human ferritin peptide antibody positivity\n", + " definition of HP:6000508 (Anti-human ferritin peptide antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the human ferritin peptide.\n", + " definition of HP:6000508 (Anti-human ferritin peptide antibody positivity)\n", + " \n", + " \n", + " Decreased CSF protein concentration\n", + " definition of HP:0025457 (Decreased CSF protein concentration)\n", + " \n", + " \n", + " CSF total protein level is below the lower limit of normal.\n", + " definition of HP:0025457 (Decreased CSF protein concentration)\n", + " \n", + " \n", + " #Decreased cerebrospinal fluid total protein #Decreased CSF protein #Hypoproteinorrhachia #Low CSF total protein\n", + " definition of HP:0025457 (Decreased CSF protein concentration)\n", + " \n", + " \n", + " Reduced protein S activity\n", + " definition of HP:0004855 (Reduced protein S activity)\n", + " \n", + " \n", + " An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein S. Protein S is a cofactor of protein C.\n", + " definition of HP:0004855 (Reduced protein S activity)\n", + " \n", + " \n", + " Atrophy/Degeneration affecting the brainstem\n", + " definition of HP:0007366 (Atrophy/Degeneration affecting the brainstem)\n", + " \n", + " \n", + " #Brainstem atrophy\n", + " definition of HP:0007366 (Atrophy/Degeneration affecting the brainstem)\n", + " \n", + " \n", + " Abnormality of the epiphysis of the middle phalanx of the 4th finger\n", + " definition of HP:0009247 (Abnormality of the epiphysis of the middle phalanx of the 4th finger)\n", + " \n", + " \n", + " #Abnormality of the end part of the middle bone of the ring finger\n", + " definition of HP:0009247 (Abnormality of the epiphysis of the middle phalanx of the 4th finger)\n", + " \n", + " \n", + " Impaired ability to shift attention\n", + " definition of HP:0033360 (Impaired ability to shift attention)\n", + " \n", + " \n", + " A behavioral abnormality whereby a person is unable to move freely from one situation, activity or aspect of aa problem to another as circumstances demand. Key aspects of shifting include the ability to make transitions, problem solve flexibly, switch or alternate attention, and change focus from one mind-set or topic to another. Mild deficits in the ability to shift compromise the efficiency of problem solving, whereas more severe difficulties are reflected in perseverative behaviors. Sometimes this is described as being rigid or inflexible.\n", + " definition of HP:0033360 (Impaired ability to shift attention)\n", + " \n", + " \n", + " #Impaired task shifting\n", + " definition of HP:0033360 (Impaired ability to shift attention)\n", + " \n", + " \n", + " Holosystolic murmur\n", + " definition of HP:0031667 (Holosystolic murmur)\n", + " \n", + " \n", + " A heart murmur that occurs during the entire systolic phase from S1 to S2.\n", + " definition of HP:0031667 (Holosystolic murmur)\n", + " \n", + " \n", + " Cerebellar vermis atrophy\n", + " definition of HP:0006855 (Cerebellar vermis atrophy)\n", + " \n", + " \n", + " Wasting (atrophy) of the vermis of cerebellum.\n", + " definition of HP:0006855 (Cerebellar vermis atrophy)\n", + " \n", + " \n", + " #Atrophy of cerebellar vermis #Atrophy of the cerebellar vermis #Vermian atrophy\n", + " definition of HP:0006855 (Cerebellar vermis atrophy)\n", + " \n", + " \n", + " Abnormality of the female genitalia\n", + " definition of HP:0010460 (Abnormality of the female genitalia)\n", + " \n", + " \n", + " Abnormality of the female genital system.\n", + " definition of HP:0010460 (Abnormality of the female genitalia)\n", + " \n", + " \n", + " Elevated circulating methylglutarylcarnitine concentration\n", + " definition of HP:0035027 (Elevated circulating methylglutarylcarnitine concentration)\n", + " \n", + " \n", + " Concentration of methylglutarylcarnitine in the blood circulation above the upper limit of normal.\n", + " definition of HP:0035027 (Elevated circulating methylglutarylcarnitine concentration)\n", + " \n", + " \n", + " #Elevated circulating C6-DC acylcarnitine concentration\n", + " definition of HP:0035027 (Elevated circulating methylglutarylcarnitine concentration)\n", + " \n", + " \n", + " Retinal dystrophy with early macular involvement\n", + " definition of HP:0030635 (Retinal dystrophy with early macular involvement)\n", + " \n", + " \n", + " Accessory oral frenulum\n", + " definition of HP:0000191 (Accessory oral frenulum)\n", + " \n", + " \n", + " Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip.\n", + " definition of HP:0000191 (Accessory oral frenulum)\n", + " \n", + " \n", + " #Accessory oral frenum #Extra oral frenulum #Extra oral frenum #Multiple oral frenula #Supernumerary oral frenulum #Supernumerary oral frenum\n", + " definition of HP:0000191 (Accessory oral frenulum)\n", + " \n", + " \n", + " Abnormal cortical radial artery intima/media morphology\n", + " definition of HP:0033888 (Abnormal cortical radial artery intima/media morphology)\n", + " \n", + " \n", + " Any structural anomaly of the inner or middle layer of the cortical radial arteries (also known as interlobular arteries) of the kidney.\n", + " definition of HP:0033888 (Abnormal cortical radial artery intima/media morphology)\n", + " \n", + " \n", + " #Abnormalities of the interlobular arterial intima/media\n", + " definition of HP:0033888 (Abnormal cortical radial artery intima/media morphology)\n", + " \n", + " \n", + " Patellar dislocation\n", + " definition of HP:0002999 (Patellar dislocation)\n", + " \n", + " \n", + " The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove.\n", + " definition of HP:0002999 (Patellar dislocation)\n", + " \n", + " \n", + " #Dislocated kneecap #Dislocated patellae #Dislocation of patella\n", + " definition of HP:0002999 (Patellar dislocation)\n", + " \n", + " \n", + " Cone-shaped epiphysis of the proximal phalanx of the 4th toe\n", + " definition of HP:0100193 (Cone-shaped epiphysis of the proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " #Cone-shaped end part of the innermost bone of the 4th toe\n", + " definition of HP:0100193 (Cone-shaped epiphysis of the proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " Optic nerve arteriovenous malformation\n", + " definition of HP:0031256 (Optic nerve arteriovenous malformation)\n", + " \n", + " \n", + " An arteriovenous malformation is a disruption of the normal vascular pattern in which arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. This term refers to an arteriovenous malformation located in the optic nerve.\n", + " definition of HP:0031256 (Optic nerve arteriovenous malformation)\n", + " \n", + " \n", + " Abnormal aryepiglottic fold morphology\n", + " definition of HP:0008744 (Abnormal aryepiglottic fold morphology)\n", + " \n", + " \n", + " An abnormality of the aryepiglottic fold.\n", + " definition of HP:0008744 (Abnormal aryepiglottic fold morphology)\n", + " \n", + " \n", + " #Abnormal aryepiglottic folds #Abnormality of the aryepiglottic fold\n", + " definition of HP:0008744 (Abnormal aryepiglottic fold morphology)\n", + " \n", + " \n", + " Absent ossification of capital femoral epiphysis\n", + " definition of HP:0008820 (Absent ossification of capital femoral epiphysis)\n", + " \n", + " \n", + " Lack of ossification of the proximal epiphysis of the femur.\n", + " definition of HP:0008820 (Absent ossification of capital femoral epiphysis)\n", + " \n", + " \n", + " #Absent ossification of femoral capital epiphyses\n", + " definition of HP:0008820 (Absent ossification of capital femoral epiphysis)\n", + " \n", + " \n", + " Gastric varix\n", + " definition of HP:0030169 (Gastric varix)\n", + " \n", + " \n", + " Extreme dilation of the submucusoal veins in the stomach.\n", + " definition of HP:0030169 (Gastric varix)\n", + " \n", + " \n", + " Hemorrhage of the eye\n", + " definition of HP:0011885 (Hemorrhage of the eye)\n", + " \n", + " \n", + " Bleeding from vessels of the various tissues of the eye.\n", + " definition of HP:0011885 (Hemorrhage of the eye)\n", + " \n", + " \n", + " #Bleeding from the eye #Haemorrhage of the eye\n", + " definition of HP:0011885 (Hemorrhage of the eye)\n", + " \n", + " \n", + " Diminishment of emotional responsiveness\n", + " definition of HP:5200213 (Diminishment of emotional responsiveness)\n", + " \n", + " \n", + " A reduction in the tendency of a person to display emotional responsiveness or empathy towards others during interpersonal interactions as compared to that person's previous norm.\n", + " definition of HP:5200213 (Diminishment of emotional responsiveness)\n", + " \n", + " \n", + " #Diminishment of empathy\n", + " definition of HP:5200213 (Diminishment of emotional responsiveness)\n", + " \n", + " \n", + " Internal notch of the femoral head\n", + " definition of HP:0031027 (Internal notch of the femoral head)\n", + " \n", + " \n", + " A small V-shaped indentation on the internal aspect of the femoral head. This feature is well illustrated in Figure 5 of PMID:11694546.\n", + " definition of HP:0031027 (Internal notch of the femoral head)\n", + " \n", + " \n", + " Triangular shaped distal phalanges of the toes\n", + " definition of HP:0010192 (Triangular shaped distal phalanges of the toes)\n", + " \n", + " \n", + " #Triangular shaped outermost bone of the toes\n", + " definition of HP:0010192 (Triangular shaped distal phalanges of the toes)\n", + " \n", + " \n", + " Elevated terminal:vellus ratio\n", + " definition of HP:0032496 (Elevated terminal:vellus ratio)\n", + " \n", + " \n", + " An increased proportion of terminal hairs compared to vellus hairs.\n", + " definition of HP:0032496 (Elevated terminal:vellus ratio)\n", + " \n", + " \n", + " Pulmonary thromboembolism\n", + " definition of HP:0034192 (Pulmonary thromboembolism)\n", + " \n", + " \n", + " Pulmonary embolism is caused by emboli, which have originated from venous thrombi, traveling to and occluding the arteries of the lung.\n", + " definition of HP:0034192 (Pulmonary thromboembolism)\n", + " \n", + " \n", + " Lacunar stroke\n", + " definition of HP:0032325 (Lacunar stroke)\n", + " \n", + " \n", + " A stroke related to a small infarct (2-20 mm in diameter) in the deep cerebral white matter, basal ganglia, or pons, that is presumed to result from the occlusion of a single small perforating artery supplying the subcortical areas of the brain.\n", + " definition of HP:0032325 (Lacunar stroke)\n", + " \n", + " \n", + " Pulmonary chondroma\n", + " definition of HP:0031474 (Pulmonary chondroma)\n", + " \n", + " \n", + " A benign cartilaginous tumors of the lung.\n", + " definition of HP:0031474 (Pulmonary chondroma)\n", + " \n", + " \n", + " Hyperreflexia in upper limbs\n", + " definition of HP:0007350 (Hyperreflexia in upper limbs)\n", + " \n", + " \n", + " Short phalanx of the 3rd toe\n", + " definition of HP:0100366 (Short phalanx of the 3rd toe)\n", + " \n", + " \n", + " Developmental hypoplasia of the phalanx of third toe.\n", + " definition of HP:0100366 (Short phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Hypoplastic/small phalanges of the 3rd toe #Short 3rd toe bone #Short phalanx of the third toe\n", + " definition of HP:0100366 (Short phalanx of the 3rd toe)\n", + " \n", + " \n", + " Renal interstitial foam cells\n", + " definition of HP:0032582 (Renal interstitial foam cells)\n", + " \n", + " \n", + " Accumulation of foam cells (FC) in the interstitium of the kidney. Renal FCs display phenotypic characteristics of macrophages and belong to the monocyte/macrophage lineage. Histologically, renal FCs are characterized by round cells with small nuclei and an abundant PAS-positive cytoplasm with lipid-containing vacuoles.\n", + " definition of HP:0032582 (Renal interstitial foam cells)\n", + " \n", + " \n", + " Pancreatic calcification\n", + " definition of HP:0005213 (Pancreatic calcification)\n", + " \n", + " \n", + " The presence of abnormal calcium deposition lesions in the pancreas.\n", + " definition of HP:0005213 (Pancreatic calcification)\n", + " \n", + " \n", + " #Pancreatic calcifications\n", + " definition of HP:0005213 (Pancreatic calcification)\n", + " \n", + " \n", + " Increased urinary transitional epithelial cell count\n", + " definition of HP:0032214 (Increased urinary transitional epithelial cell count)\n", + " \n", + " \n", + " An increased number of transitional epithelial cells per high-power field in urinanalysis.\n", + " definition of HP:0032214 (Increased urinary transitional epithelial cell count)\n", + " \n", + " \n", + " Anti-desmoglein-3 antibody positivity\n", + " definition of HP:4000014 (Anti-desmoglein-3 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against desmoglein-3, a dermal cell adhesion molecule.\n", + " definition of HP:4000014 (Anti-desmoglein-3 antibody positivity)\n", + " \n", + " \n", + " Recurrent sinusitis\n", + " definition of HP:0011108 (Recurrent sinusitis)\n", + " \n", + " \n", + " A recurrent form of sinusitis.\n", + " definition of HP:0011108 (Recurrent sinusitis)\n", + " \n", + " \n", + " #Sinusitis, recurrent\n", + " definition of HP:0011108 (Recurrent sinusitis)\n", + " \n", + " \n", + " Triangular shaped proximal phalanx of the hallux\n", + " definition of HP:0010092 (Triangular shaped proximal phalanx of the hallux)\n", + " \n", + " \n", + " #Triangular shaped innermost bone of big toe\n", + " definition of HP:0010092 (Triangular shaped proximal phalanx of the hallux)\n", + " \n", + " \n", + " Elevated CSF chitinase-3-like protein 1 concentration\n", + " definition of HP:0032651 (Elevated CSF chitinase-3-like protein 1 concentration)\n", + " \n", + " \n", + " Increased concentration of chitinase-3-like protein 1 in cerebrospinal fluid.\n", + " definition of HP:0032651 (Elevated CSF chitinase-3-like protein 1 concentration)\n", + " \n", + " \n", + " #Elevated CSF chitinase-3-like protein 1 level\n", + " definition of HP:0032651 (Elevated CSF chitinase-3-like protein 1 concentration)\n", + " \n", + " \n", + " Elevated 8-dehydrocholesterol\n", + " definition of HP:0003462 (Elevated 8-dehydrocholesterol)\n", + " \n", + " \n", + " Hypoketotic hypoglycemia\n", + " definition of HP:0001985 (Hypoketotic hypoglycemia)\n", + " \n", + " \n", + " A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies.\n", + " definition of HP:0001985 (Hypoketotic hypoglycemia)\n", + " \n", + " \n", + " #Hypoglycemia, hypoketotic\n", + " definition of HP:0001985 (Hypoketotic hypoglycemia)\n", + " \n", + " \n", + " Increased megakaryocyte count\n", + " definition of HP:0005513 (Increased megakaryocyte count)\n", + " \n", + " \n", + " Increased megakaryocyte number, i.e., of platelet precursor cells, present in the bone marrow.\n", + " definition of HP:0005513 (Increased megakaryocyte count)\n", + " \n", + " \n", + " Blistering by histological location\n", + " definition of HP:0033801 (Blistering by histological location)\n", + " \n", + " \n", + " Blistering (presence of multiple fluid filled blisters) categorized according to the layer of the skin in which the blister originates. The skin is divided into three layers. The epidermis (outermost layer, which mainly consists of keratinocytes), the dermis, and a subcutaneous layer. The epidermis is divided into five layers: the basal lamina (innermost layer), the basal cell layer, the stratum spinosum, the stratum granulosum, and the stratum corneum (outermost layer). Cleavage in epidermolysis bullosa (EB) simplex occurs within the basal keratinocytes; in junctional EB, within the lamina lucida; and in dystrophic EB occurs in the sublamina densa, in the upper portion of the dermis (papillary dermis). In Kindler's EB, cleavage can occur in the basal keratinocytes, in the lamina lucida, or below the lamina densa.\n", + " definition of HP:0033801 (Blistering by histological location)\n", + " \n", + " \n", + " Symptomatic seizures\n", + " definition of HP:0011145 (Symptomatic seizures)\n", + " \n", + " \n", + " A seizure that occurs in the context of a brain insult (systemic, toxic, or metabolic) and may not recur when the underlying cause has been removed or the acute phase has elapsed.\n", + " definition of HP:0011145 (Symptomatic seizures)\n", + " \n", + " \n", + " Agenesis of the diaphragm\n", + " definition of HP:0008986 (Agenesis of the diaphragm)\n", + " \n", + " \n", + " Congenital lack, i.e., aplasia of the diaphragm.\n", + " definition of HP:0008986 (Agenesis of the diaphragm)\n", + " \n", + " \n", + " #Absent diaphragm\n", + " definition of HP:0008986 (Agenesis of the diaphragm)\n", + " \n", + " \n", + " Preaxial foot polydactyly\n", + " definition of HP:0001841 (Preaxial foot polydactyly)\n", + " \n", + " \n", + " Duplication of all or part of the first ray.\n", + " definition of HP:0001841 (Preaxial foot polydactyly)\n", + " \n", + " \n", + " #Partial/complete duplication of the phalanges of the big toe #Polydactyly affecting the hallux #Preaxial hallucal polydactyly #Preaxial polydactyly of feet #Preaxial polydactyly of foot #Preaxial polydactyly of the feet #Preaxial polydactyly, feet\n", + " definition of HP:0001841 (Preaxial foot polydactyly)\n", + " \n", + " \n", + " Perioral hyperkeratosis\n", + " definition of HP:0033707 (Perioral hyperkeratosis)\n", + " \n", + " \n", + " Increased thickness of the stratum corneum (the outer layer of the skin) in the skin surrounding the mouth.\n", + " definition of HP:0033707 (Perioral hyperkeratosis)\n", + " \n", + " \n", + " Focal impaired awareness cognitive seizure with left-right confusion\n", + " definition of HP:0032796 (Focal impaired awareness cognitive seizure with left-right confusion)\n", + " \n", + " \n", + " A focal cognitive seizure with left-right confusion characterized by impairment of awareness at some point during the seizure.\n", + " definition of HP:0032796 (Focal impaired awareness cognitive seizure with left-right confusion)\n", + " \n", + " \n", + " Parathyroid agenesis\n", + " definition of HP:0008211 (Parathyroid agenesis)\n", + " \n", + " \n", + " Aplasia of the parathyroid gland.\n", + " definition of HP:0008211 (Parathyroid agenesis)\n", + " \n", + " \n", + " #Parathyroid absence #Parathyroid aplasia\n", + " definition of HP:0008211 (Parathyroid agenesis)\n", + " \n", + " \n", + " Pulmonary histoplasmosis\n", + " definition of HP:0032258 (Pulmonary histoplasmosis)\n", + " \n", + " \n", + " Infection of the lungs with Histoplasma capsulatum. Symptoms may include fever, headache, weakness, chest pain and dry cough. When imaging is done, chest radiographs may show patchy pneumonia involving one or more lobes with adenopathy of the mediastinum or hilum.\n", + " definition of HP:0032258 (Pulmonary histoplasmosis)\n", + " \n", + " \n", + " Cervicitis\n", + " definition of HP:0030160 (Cervicitis)\n", + " \n", + " \n", + " Inflammation of the uterine cervix.\n", + " definition of HP:0030160 (Cervicitis)\n", + " \n", + " \n", + " #Uterine cervicitis #Uterine cervix inflammation\n", + " definition of HP:0030160 (Cervicitis)\n", + " \n", + " \n", + " Anti-RNA-polymerase-III-autoantibody positivity\n", + " definition of HP:0033038 (Anti-RNA-polymerase-III-autoantibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies in the serum that react to RNA-polymerase III.\n", + " definition of HP:0033038 (Anti-RNA-polymerase-III-autoantibody positivity)\n", + " \n", + " \n", + " Abnormal visual accommodation\n", + " definition of HP:0030800 (Abnormal visual accommodation)\n", + " \n", + " \n", + " An anomaly in the process of visual accommodation, which is the process of adjustment of the eye to enable sharp vision of objects at different distances. Accommodation is mediated by contraction of the ciliary muscles, which alter the convexity of the lens and, consequently, its refractive power.\n", + " definition of HP:0030800 (Abnormal visual accommodation)\n", + " \n", + " \n", + " Fractured tarsal bone\n", + " definition of HP:0041247 (Fractured tarsal bone)\n", + " \n", + " \n", + " A partial or complete breakage of the tarsal bone.\n", + " definition of HP:0041247 (Fractured tarsal bone)\n", + " \n", + " \n", + " #bone tarsal bone\n", + " definition of HP:0041247 (Fractured tarsal bone)\n", + " \n", + " \n", + " Myotonia of the upper limb\n", + " definition of HP:0012903 (Myotonia of the upper limb)\n", + " \n", + " \n", + " Slowed relaxation of muscles in the arm.\n", + " definition of HP:0012903 (Myotonia of the upper limb)\n", + " \n", + " \n", + " Liver angiomyolipoma\n", + " definition of HP:0034832 (Liver angiomyolipoma)\n", + " \n", + " \n", + " A benign liver neoplasm composed of fat, vascular, and smooth muscle elements.\n", + " definition of HP:0034832 (Liver angiomyolipoma)\n", + " \n", + " \n", + " #Hepatic angiomyolipoma\n", + " definition of HP:0034832 (Liver angiomyolipoma)\n", + " \n", + " \n", + " Elevated circulating osteopontin level\n", + " definition of HP:0033123 (Elevated circulating osteopontin level)\n", + " \n", + " \n", + " Abnormally increased level of osteopontin in the blood circulation\n", + " definition of HP:0033123 (Elevated circulating osteopontin level)\n", + " \n", + " \n", + " Long middle phalanx of finger\n", + " definition of HP:0012298 (Long middle phalanx of finger)\n", + " \n", + " \n", + " Increased length of the middle phalanx of finger.\n", + " definition of HP:0012298 (Long middle phalanx of finger)\n", + " \n", + " \n", + " #Long middle bone of finger\n", + " definition of HP:0012298 (Long middle phalanx of finger)\n", + " \n", + " \n", + " Abnormalities of placenta or umbilical cord\n", + " definition of HP:0001194 (Abnormalities of placenta or umbilical cord)\n", + " \n", + " \n", + " An abnormality of the placenta (the organ that connects the developing fetus to the uterine wall) or of the umbilical cord (the cord that connects the fetus to the placenta).\n", + " definition of HP:0001194 (Abnormalities of placenta or umbilical cord)\n", + " \n", + " \n", + " #Abnormalities of placenta or umbilical cord\n", + " definition of HP:0001194 (Abnormalities of placenta or umbilical cord)\n", + " \n", + " \n", + " Abnormal lung development\n", + " definition of HP:4000059 (Abnormal lung development)\n", + " \n", + " \n", + " A structural defect associated with abnormal development of the lung.\n", + " definition of HP:4000059 (Abnormal lung development)\n", + " \n", + " \n", + " #Developmental pulmonary anomaly\n", + " definition of HP:4000059 (Abnormal lung development)\n", + " \n", + " \n", + " Focal head nodding automatism seizure\n", + " definition of HP:0032906 (Focal head nodding automatism seizure)\n", + " \n", + " \n", + " A type of focal automatism seizure characterized by involuntary head nodding at onset.\n", + " definition of HP:0032906 (Focal head nodding automatism seizure)\n", + " \n", + " \n", + " Abnormality of depressor anguli oris muscle\n", + " definition of HP:3000028 (Abnormality of depressor anguli oris muscle)\n", + " \n", + " \n", + " An abnormality of a depressor anguli oris muscle.\n", + " definition of HP:3000028 (Abnormality of depressor anguli oris muscle)\n", + " \n", + " \n", + " Cellular immunodeficiency\n", + " definition of HP:0005374 (Cellular immunodeficiency)\n", + " \n", + " \n", + " An immunodeficiency characterized by defective cell-mediated immunity or humoral immunity.\n", + " definition of HP:0005374 (Cellular immunodeficiency)\n", + " \n", + " \n", + " Microcytic anemia\n", + " definition of HP:0001935 (Microcytic anemia)\n", + " \n", + " \n", + " A kind of anemia in which the volume of the red blood cells is reduced.\n", + " definition of HP:0001935 (Microcytic anemia)\n", + " \n", + " \n", + " #Microcytic anaemia\n", + " definition of HP:0001935 (Microcytic anemia)\n", + " \n", + " \n", + " Anti-cytosolic-5-nucleotidase-1A antibody positivity\n", + " definition of HP:0034153 (Anti-cytosolic-5-nucleotidase-1A antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against cytosolic-5-nucleotidase-1A (cN1A).\n", + " definition of HP:0034153 (Anti-cytosolic-5-nucleotidase-1A antibody positivity)\n", + " \n", + " \n", + " #Anti-cN1A antibody positivity\n", + " definition of HP:0034153 (Anti-cytosolic-5-nucleotidase-1A antibody positivity)\n", + " \n", + " \n", + " Supernumerary vertebral ossification centers\n", + " definition of HP:0004598 (Supernumerary vertebral ossification centers)\n", + " \n", + " \n", + " Three ossification sites are present in typical vertebral bodies (C3-L5): a single ossification center in the vertebral body, and one each in the two neural arches. This term applies if there are additional vertebral ossification centers present during the development and maturation of the spine.\n", + " definition of HP:0004598 (Supernumerary vertebral ossification centers)\n", + " \n", + " \n", + " #Supernumerary vertebral ossification centres\n", + " definition of HP:0004598 (Supernumerary vertebral ossification centers)\n", + " \n", + " \n", + " Myocardial lymphocytic infiltration\n", + " definition of HP:0031322 (Myocardial lymphocytic infiltration)\n", + " \n", + " \n", + " An increase in the number of lymphocytes in myocardial tissue.\n", + " definition of HP:0031322 (Myocardial lymphocytic infiltration)\n", + " \n", + " \n", + " Midfrontal capillary hemangioma\n", + " definition of HP:0007466 (Midfrontal capillary hemangioma)\n", + " \n", + " \n", + " Objectification of others\n", + " definition of HP:5200121 (Objectification of others)\n", + " \n", + " \n", + " A tendency to interact with others as if they are objects with functional purpose rather than engaging in social/emotional interactions.\n", + " definition of HP:5200121 (Objectification of others)\n", + " \n", + " \n", + " #Treats people like objects\n", + " definition of HP:5200121 (Objectification of others)\n", + " \n", + " \n", + " Reduced circulating fibronectin level\n", + " definition of HP:0032463 (Reduced circulating fibronectin level)\n", + " \n", + " \n", + " A reduction below the normal concentration of fibronectin the the blood circulation.\n", + " definition of HP:0032463 (Reduced circulating fibronectin level)\n", + " \n", + " \n", + " #Decreased plasma fibronectin\n", + " definition of HP:0032463 (Reduced circulating fibronectin level)\n", + " \n", + " \n", + " Pancytopenia\n", + " definition of HP:0001876 (Pancytopenia)\n", + " \n", + " \n", + " An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).\n", + " definition of HP:0001876 (Pancytopenia)\n", + " \n", + " \n", + " #Low blood cell count #Pancytopaenia\n", + " definition of HP:0001876 (Pancytopenia)\n", + " \n", + " \n", + " Purulent parotid gland drainage\n", + " definition of HP:0034781 (Purulent parotid gland drainage)\n", + " \n", + " \n", + " Excretion of pus (purulent discharge) from the opening of the parotid duct.\n", + " definition of HP:0034781 (Purulent parotid gland drainage)\n", + " \n", + " \n", + " #Purulent Stensen duct drainage\n", + " definition of HP:0034781 (Purulent parotid gland drainage)\n", + " \n", + " \n", + " Abnormal corneal epithelium morphology\n", + " definition of HP:0011495 (Abnormal corneal epithelium morphology)\n", + " \n", + " \n", + " Abnormality of the corneal epithelium, that is of the epithelial tissue that covers the front of the cornea.\n", + " definition of HP:0011495 (Abnormal corneal epithelium morphology)\n", + " \n", + " \n", + " #Abnormality of corneal epithelium\n", + " definition of HP:0011495 (Abnormal corneal epithelium morphology)\n", + " \n", + " \n", + " Retinal arterial macroaneurysms\n", + " definition of HP:0025355 (Retinal arterial macroaneurysms)\n", + " \n", + " \n", + " Acquired focal dilatations of branches of the retinal artery, usually second-order retinal arterioles, that range in size from 100 to 200 micrometers in diameter. Macroaneurysms are generally located at the temporal retina and may be hemorrhagic or exudative.\n", + " definition of HP:0025355 (Retinal arterial macroaneurysms)\n", + " \n", + " \n", + " Small intestinal hamartoma\n", + " definition of HP:0034793 (Small intestinal hamartoma)\n", + " \n", + " \n", + " A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the small intestine.\n", + " definition of HP:0034793 (Small intestinal hamartoma)\n", + " \n", + " \n", + " Paucity of anterior horn motor neurons\n", + " definition of HP:0007277 (Paucity of anterior horn motor neurons)\n", + " \n", + " \n", + " Accessory spleen\n", + " definition of HP:0001747 (Accessory spleen)\n", + " \n", + " \n", + " An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance.\n", + " definition of HP:0001747 (Accessory spleen)\n", + " \n", + " \n", + " Platybasia\n", + " definition of HP:0002691 (Platybasia)\n", + " \n", + " \n", + " A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base.\n", + " definition of HP:0002691 (Platybasia)\n", + " \n", + " \n", + " #Increased basal angle of skull base #Obtuse basal angle of skull base\n", + " definition of HP:0002691 (Platybasia)\n", + " \n", + " \n", + " Microglossia\n", + " definition of HP:0000171 (Microglossia)\n", + " \n", + " \n", + " Decreased length and width of the tongue.\n", + " definition of HP:0000171 (Microglossia)\n", + " \n", + " \n", + " #Abnormally small tongue #Decreased size of tongue #Hypoglossia #Hypoplasia of the tongue #Hypoplastic tongue #Lingual hypoplasia #Rudimentary tongue #Small tongue #Underdevelopment of the tongue\n", + " definition of HP:0000171 (Microglossia)\n", + " \n", + " \n", + " Fingerpad telangiectases\n", + " definition of HP:0006107 (Fingerpad telangiectases)\n", + " \n", + " \n", + " Telangiectasia (small dilated blood vessels) located in the fingerpads at the tips of the fingers.\n", + " definition of HP:0006107 (Fingerpad telangiectases)\n", + " \n", + " \n", + " #Finger pad telangiectases #Small dilated blood vessels in fingerpads\n", + " definition of HP:0006107 (Fingerpad telangiectases)\n", + " \n", + " \n", + " Juvenile colonic polyposis\n", + " definition of HP:0012198 (Juvenile colonic polyposis)\n", + " \n", + " \n", + " The presence of more than 5 juvenile polyps of the colon. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands.\n", + " definition of HP:0012198 (Juvenile colonic polyposis)\n", + " \n", + " \n", + " Recurrent maladaptive behavior\n", + " definition of HP:5200241 (Recurrent maladaptive behavior)\n", + " \n", + " \n", + " A repeating behavior that is either immediately unproductive or has negative long-term consequences. This includes harmful coping mechanisms such as addictive behavior and failure to control impulses and compulsions.\n", + " definition of HP:5200241 (Recurrent maladaptive behavior)\n", + " \n", + " \n", + " Abnormal B cell morphology\n", + " definition of HP:0002846 (Abnormal B cell morphology)\n", + " \n", + " \n", + " A structural abnormality of B cells.\n", + " definition of HP:0002846 (Abnormal B cell morphology)\n", + " \n", + " \n", + " #Abnormal B cells #Abnormality of B cells\n", + " definition of HP:0002846 (Abnormal B cell morphology)\n", + " \n", + " \n", + " Periarticular subcutaneous nodules\n", + " definition of HP:0007470 (Periarticular subcutaneous nodules)\n", + " \n", + " \n", + " Subcutaneous nodules that are located in the vicinity of joints.\n", + " definition of HP:0007470 (Periarticular subcutaneous nodules)\n", + " \n", + " \n", + " Fibrous hamartoma\n", + " definition of HP:0100882 (Fibrous hamartoma)\n", + " \n", + " \n", + " A rare, benign soft tissue tumor that typically occurs within the first two years of life.\n", + " definition of HP:0100882 (Fibrous hamartoma)\n", + " \n", + " \n", + " #Fibrous hamartoma of infancy\n", + " definition of HP:0100882 (Fibrous hamartoma)\n", + " \n", + " \n", + " Flared nostrils\n", + " definition of HP:0000454 (Flared nostrils)\n", + " \n", + " \n", + " #Flared nasal alae #Flared nostrils\n", + " definition of HP:0000454 (Flared nostrils)\n", + " \n", + " \n", + " Elevated urine malonic acid level\n", + " definition of HP:0034657 (Elevated urine malonic acid level)\n", + " \n", + " \n", + " The concentration of malonic acid in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:0034657 (Elevated urine malonic acid level)\n", + " \n", + " \n", + " #Malonic acid present in urine\n", + " definition of HP:0034657 (Elevated urine malonic acid level)\n", + " \n", + " \n", + " Decreased circulating biotinidase concentration\n", + " definition of HP:0410145 (Decreased circulating biotinidase concentration)\n", + " \n", + " \n", + " Concentration of biotinidase in the blood circulation below the lower limit of normal. Biotidinase is an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation.\n", + " definition of HP:0410145 (Decreased circulating biotinidase concentration)\n", + " \n", + " \n", + " #Decreased biotinidase level\n", + " definition of HP:0410145 (Decreased circulating biotinidase concentration)\n", + " \n", + " \n", + " Exogenous lipoid pneumonia\n", + " definition of HP:0033366 (Exogenous lipoid pneumonia)\n", + " \n", + " \n", + " A type of lipoid pneumonia in which the source of the lipids is external to the body.\n", + " definition of HP:0033366 (Exogenous lipoid pneumonia)\n", + " \n", + " \n", + " Recurrent hand flapping\n", + " definition of HP:0100023 (Recurrent hand flapping)\n", + " \n", + " \n", + " A type of repetitive behavior in which the affected individual repeatedly waves the hands and/or arms rhythmically.\n", + " definition of HP:0100023 (Recurrent hand flapping)\n", + " \n", + " \n", + " Symphalangism of the 5th finger\n", + " definition of HP:0004218 (Symphalangism of the 5th finger)\n", + " \n", + " \n", + " Fusion of two or more bones of the 5th finger.\n", + " definition of HP:0004218 (Symphalangism of the 5th finger)\n", + " \n", + " \n", + " #Fifth finger symphalangism #Fused little finger bones #Fused pinkie finger bones #Fused pinky finger bones #Symphalagism of the little finger\n", + " definition of HP:0004218 (Symphalangism of the 5th finger)\n", + " \n", + " \n", + " Pattern dystrophy of the retina\n", + " definition of HP:0007963 (Pattern dystrophy of the retina)\n", + " \n", + " \n", + " A spectrum of fundoscopic appearances characterized by the development of a variety of patterns of deposits predominantly in the macular area. The deposits are typically bilateral, relatively symmetrical, yellow/white and associated with changes at the level of the retinal pigment epithelium. With time, retinal atrophy may occur. A number of pattern dystrophy subtypes have been described including butterfly-shaped dystrophy, reticular dystrophy (net-like pattern) and fundus pulverulentus (granular, mottled pigmentation).\n", + " definition of HP:0007963 (Pattern dystrophy of the retina)\n", + " \n", + " \n", + " Ivory epiphysis of the 1st metacarpal\n", + " definition of HP:0010021 (Ivory epiphysis of the 1st metacarpal)\n", + " \n", + " \n", + " The epiphysis of the 1st metacarpal appears hard and dense like ivory. An ivory epiphysis has a uniformly dense appearance on radiographs.\n", + " definition of HP:0010021 (Ivory epiphysis of the 1st metacarpal)\n", + " \n", + " \n", + " #Increased bone density of end part of the 1st long bone of hand\n", + " definition of HP:0010021 (Ivory epiphysis of the 1st metacarpal)\n", + " \n", + " \n", + " Intrahepatic inclusion bodies\n", + " definition of HP:6000976 (Intrahepatic inclusion bodies)\n", + " \n", + " \n", + " Nuclear or cytoplasmic aggregates of stainable substances within hepatocytes.\n", + " definition of HP:6000976 (Intrahepatic inclusion bodies)\n", + " \n", + " \n", + " Fractured cuboid bone\n", + " definition of HP:0041150 (Fractured cuboid bone)\n", + " \n", + " \n", + " A partial or complete breakage of the cuboid bone.\n", + " definition of HP:0041150 (Fractured cuboid bone)\n", + " \n", + " \n", + " #bone cuboid bone\n", + " definition of HP:0041150 (Fractured cuboid bone)\n", + " \n", + " \n", + " Jaw contracture\n", + " definition of HP:0033333 (Jaw contracture)\n", + " \n", + " \n", + " Limitation of motion of the jaw due to structural changes in a muscle such as the massseter responsible for jaw movement.\n", + " definition of HP:0033333 (Jaw contracture)\n", + " \n", + " \n", + " Thin skin\n", + " definition of HP:0000963 (Thin skin)\n", + " \n", + " \n", + " Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin.\n", + " definition of HP:0000963 (Thin skin)\n", + " \n", + " \n", + " #Thin skin\n", + " definition of HP:0000963 (Thin skin)\n", + " \n", + " \n", + " Sex-limited expression\n", + " definition of HP:0001470 (Sex-limited expression)\n", + " \n", + " \n", + " Sex limitation is used to refer to a monogenic trait linked to an autosomal locus in which the phenotypic effects of allelic differences are expressed only in one sex.\n", + " definition of HP:0001470 (Sex-limited expression)\n", + " \n", + " \n", + " Optic disc pallor\n", + " definition of HP:0000543 (Optic disc pallor)\n", + " \n", + " \n", + " A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.\n", + " definition of HP:0000543 (Optic disc pallor)\n", + " \n", + " \n", + " #Pale optic disc\n", + " definition of HP:0000543 (Optic disc pallor)\n", + " \n", + " \n", + " Homocystinuria\n", + " definition of HP:0002156 (Homocystinuria)\n", + " \n", + " \n", + " An increased concentration of homocystine in the urine.\n", + " definition of HP:0002156 (Homocystinuria)\n", + " \n", + " \n", + " #High urine homocystine levels\n", + " definition of HP:0002156 (Homocystinuria)\n", + " \n", + " \n", + " Abnormal cerebrospinal fluid morphology\n", + " definition of HP:0002921 (Abnormal cerebrospinal fluid morphology)\n", + " \n", + " \n", + " An abnormality of the cerebrospinal fluid (CSF).\n", + " definition of HP:0002921 (Abnormal cerebrospinal fluid morphology)\n", + " \n", + " \n", + " #Abnormal CSF findings #Abnormality of the cerebrospinal fluid #Abnormality of the CSF\n", + " definition of HP:0002921 (Abnormal cerebrospinal fluid morphology)\n", + " \n", + " \n", + " Arteriosclerosis of small cerebral arteries\n", + " definition of HP:0004931 (Arteriosclerosis of small cerebral arteries)\n", + " \n", + " \n", + " Arteriosclerosis (increased thickness, increased stiffness, loss of elasticity) of the small arteries of the brain.\n", + " definition of HP:0004931 (Arteriosclerosis of small cerebral arteries)\n", + " \n", + " \n", + " Craniofacial osteosclerosis\n", + " definition of HP:0005464 (Craniofacial osteosclerosis)\n", + " \n", + " \n", + " Abnormally increased density of craniofacial bone tissue.\n", + " definition of HP:0005464 (Craniofacial osteosclerosis)\n", + " \n", + " \n", + " Cyclophoria\n", + " definition of HP:0031777 (Cyclophoria)\n", + " \n", + " \n", + " A form of latent strabismus (heterophoria) in which the occluded eye wheel-rotates on dissociation.\n", + " definition of HP:0031777 (Cyclophoria)\n", + " \n", + " \n", + " Widened metacarpal shaft\n", + " definition of HP:0006012 (Widened metacarpal shaft)\n", + " \n", + " \n", + " #Broad shaft of long bone of hand\n", + " definition of HP:0006012 (Widened metacarpal shaft)\n", + " \n", + " \n", + " Delusions of infestation\n", + " definition of HP:5200426 (Delusions of infestation)\n", + " \n", + " \n", + " A persistent belief that a person is infested with living or non-living pathogens, such as parasites, insects, or bugs, when no such infestation is present.\n", + " definition of HP:5200426 (Delusions of infestation)\n", + " \n", + " \n", + " #Ekbom's syndrome\n", + " definition of HP:5200426 (Delusions of infestation)\n", + " \n", + " \n", + " Increased vertical cup-to-disc ratio - 0.6\n", + " definition of HP:0031974 (Increased vertical cup-to-disc ratio - 0.6)\n", + " \n", + " \n", + " Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.6 (The normal cup-to-disc ratio is 0.3).\n", + " definition of HP:0031974 (Increased vertical cup-to-disc ratio - 0.6)\n", + " \n", + " \n", + " Pseudoepiphyses of the 4th finger\n", + " definition of HP:0009400 (Pseudoepiphyses of the 4th finger)\n", + " \n", + " \n", + " A secondary ossification center in the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.\n", + " definition of HP:0009400 (Pseudoepiphyses of the 4th finger)\n", + " \n", + " \n", + " Small epiphyses of the 2nd finger\n", + " definition of HP:0009496 (Small epiphyses of the 2nd finger)\n", + " \n", + " \n", + " Abnormally small size of the epiphyses of the 2nd finger with respect to age-dependent norms.\n", + " definition of HP:0009496 (Small epiphyses of the 2nd finger)\n", + " \n", + " \n", + " #Small end part of the index finger\n", + " definition of HP:0009496 (Small epiphyses of the 2nd finger)\n", + " \n", + " \n", + " Hypoalbuminemia\n", + " definition of HP:0003073 (Hypoalbuminemia)\n", + " \n", + " \n", + " Reduction in the concentration of albumin in the blood.\n", + " definition of HP:0003073 (Hypoalbuminemia)\n", + " \n", + " \n", + " #Hypoalbuminaemia #Low blood albumin\n", + " definition of HP:0003073 (Hypoalbuminemia)\n", + " \n", + " \n", + " Scissor gait\n", + " definition of HP:0012407 (Scissor gait)\n", + " \n", + " \n", + " A type of spastic paraparetic gait in which the muscle tone in the adductors is marked. It is characterized by hypertonia and flexion in the legs, hips and pelvis accompanied by extreme adduction leading to the knees and thighs hitting, or sometimes even crossing, in a scissors-like movement. The opposing muscles (abductors) become comparatively weak from lack of use.\n", + " definition of HP:0012407 (Scissor gait)\n", + " \n", + " \n", + " #Scissor gait #Scissor walk #Scissoring gait #Scissoring of the lower extremities #Scissoring of the lower limbs #Scissors gait\n", + " definition of HP:0012407 (Scissor gait)\n", + " \n", + " \n", + " Elevated 18-hydroxycorticosterone to aldosterone ratio\n", + " definition of HP:6000515 (Elevated 18-hydroxycorticosterone to aldosterone ratio)\n", + " \n", + " \n", + " The relative concentration in the blood circulation of 18-hydroxycorticosterone compared to that of aldosterone is above the upper limit of normal.\n", + " definition of HP:6000515 (Elevated 18-hydroxycorticosterone to aldosterone ratio)\n", + " \n", + " \n", + " Renal lymphocytic tubulitis\n", + " definition of HP:0032589 (Renal lymphocytic tubulitis)\n", + " \n", + " \n", + " Infiltration of the renal tubular epithelium by lymphocytes.\n", + " definition of HP:0032589 (Renal lymphocytic tubulitis)\n", + " \n", + " \n", + " Nodular-centrilobular without tree-in-bud pattern on pulmonary HRCT\n", + " definition of HP:0032972 (Nodular-centrilobular without tree-in-bud pattern on pulmonary HRCT)\n", + " \n", + " \n", + " A nodular pattern on pulmonary high-resolution computed tomography which are anatomically located centrally within secondary pulmonary lobules. Centrilobular nodules may be dense (i.e., solid) and of homogeneous opacity or ground-glass opacity, and may range from a few millimeters to about 1 cm in size. Because of the similar size of secondary lobules, centrilobular nodules often appear to be evenly spaced. Centrilobular nodules are usually separated from the pleural surfaces, fissures, and interlobular septa by a distance of at least several millimeters. They may appear patchy or diffuse in different diseases.\n", + " definition of HP:0032972 (Nodular-centrilobular without tree-in-bud pattern on pulmonary HRCT)\n", + " \n", + " \n", + " Nonopposable triphalangeal thumb\n", + " definition of HP:0005725 (Nonopposable triphalangeal thumb)\n", + " \n", + " \n", + " A form of triphalangeal thumb that cannot be placed opposite the fingers of the same hand.\n", + " definition of HP:0005725 (Nonopposable triphalangeal thumb)\n", + " \n", + " \n", + " Curved distal phalanx of the 3rd toe\n", + " definition of HP:0100449 (Curved distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " A deviation from the normal straight form of the distal phalanx of the third toe.\n", + " definition of HP:0100449 (Curved distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Curved outermost bone of the 3rd toe\n", + " definition of HP:0100449 (Curved distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Delusional atmosphere\n", + " definition of HP:5200427 (Delusional atmosphere)\n", + " \n", + " \n", + " A persistent sense or a hunch that something is different in an imperceptible manner. Typically the perception is one of a sinister, portentous , uncanny, mysterious, or peculiar sense of foreboding in an indefinable way. There is an innate sense of inexplicable self-relevance to the person. There is often a feeling of anticipation, sometimes even excitement, that soon the mystery may be revealed and all the separate parts of their experience will fit together to reveal something immensely significant. The duration of this experience may vary, lasting from hours to days. It may be intermittent over an extended period of time (months to years).\n", + " definition of HP:5200427 (Delusional atmosphere)\n", + " \n", + " \n", + " #Delusional mood\n", + " definition of HP:5200427 (Delusional atmosphere)\n", + " \n", + " \n", + " Shortened inner dynein arms\n", + " definition of HP:0200107 (Shortened inner dynein arms)\n", + " \n", + " \n", + " Wide humeral diaphysis\n", + " definition of HP:0003935 (Wide humeral diaphysis)\n", + " \n", + " \n", + " Increased width of the humeral diaphysis.\n", + " definition of HP:0003935 (Wide humeral diaphysis)\n", + " \n", + " \n", + " #Broad humeral diaphysis #Broad shaft of long bone in upper arm #Wide shaft of long bone in upper arm\n", + " definition of HP:0003935 (Wide humeral diaphysis)\n", + " \n", + " \n", + " Elevated circulating sitosterol concentration\n", + " definition of HP:0033341 (Elevated circulating sitosterol concentration)\n", + " \n", + " \n", + " An increased concentration of beta-sitosterol in the blood circulation.\n", + " definition of HP:0033341 (Elevated circulating sitosterol concentration)\n", + " \n", + " \n", + " #Elevated circulating beta-sitosterol concentration\n", + " definition of HP:0033341 (Elevated circulating sitosterol concentration)\n", + " \n", + " \n", + " Deformed radius\n", + " definition of HP:0003977 (Deformed radius)\n", + " \n", + " \n", + " Chylopericardium\n", + " definition of HP:0011852 (Chylopericardium)\n", + " \n", + " \n", + " Accumulation of chyle (the whitish fluid taken up by the lacteals in the intestine, consisting of an emulsion of lymph and triglyceride fat thatpasses into the veins by the thoracic duct) in the pericardium. Chylopericardium is generally caused by obstruction of or trauma to the thoracic duct.\n", + " definition of HP:0011852 (Chylopericardium)\n", + " \n", + " \n", + " Type I truncus arteriosus\n", + " definition of HP:0004384 (Type I truncus arteriosus)\n", + " \n", + " \n", + " Truncus arteriosus (single great artery leaving the base of the heart, giving rise to the coronary, pulmonary, and systemic arteries) with a short pulmonary trunk arises from the truncus arteriosus, giving rise to both pulmonary arteries.\n", + " definition of HP:0004384 (Type I truncus arteriosus)\n", + " \n", + " \n", + " #Persistent truncus arteriosus type I #Type 1 truncus arteriosus\n", + " definition of HP:0004384 (Type I truncus arteriosus)\n", + " \n", + " \n", + " Macrocephaly\n", + " definition of HP:0000256 (Macrocephaly)\n", + " \n", + " \n", + " Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.\n", + " definition of HP:0000256 (Macrocephaly)\n", + " \n", + " \n", + " #Increased size of cranium #Increased size of skull #Large head #Large head circumference #Macrocephalus #Macrocrania #Megacephaly\n", + " definition of HP:0000256 (Macrocephaly)\n", + " \n", + " \n", + " Reduced circulating adenosine deaminase-2 activity\n", + " definition of HP:6000562 (Reduced circulating adenosine deaminase-2 activity)\n", + " \n", + " \n", + " Concentration of adenosine deaminase 2 in the blood circulation below the lower limit of normal.\n", + " definition of HP:6000562 (Reduced circulating adenosine deaminase-2 activity)\n", + " \n", + " \n", + " #Reduced circulating ADA2 activity\n", + " definition of HP:6000562 (Reduced circulating adenosine deaminase-2 activity)\n", + " \n", + " \n", + " Abnormal cardiac output\n", + " definition of HP:0033528 (Abnormal cardiac output)\n", + " \n", + " \n", + " A deviation from normal Cardiac output, which is defined as the amount of blood pumped by the heart minute and is the mechanism whereby blood flows around the body, especially providing blood flow to the brain and other vital organs.\n", + " definition of HP:0033528 (Abnormal cardiac output)\n", + " \n", + " \n", + " Reduced circulating alpha-1-antitrypsin concentration\n", + " definition of HP:0032025 (Reduced circulating alpha-1-antitrypsin concentration)\n", + " \n", + " \n", + " A reduced concentration or activity of circulating alpha-1 antitrypsin, which is a 52-kDa glycoprotein mainly synthesized and secreted by hepatocytes into the bloodstream. Alpha-1 antitrypsin is a serine-proteinase inhibitor that it is crucial in maintaining protease-antiprotease homeostasis in the lungs.\n", + " definition of HP:0032025 (Reduced circulating alpha-1-antitrypsin concentration)\n", + " \n", + " \n", + " #Reduced serum alpha-1-antitrypsin\n", + " definition of HP:0032025 (Reduced circulating alpha-1-antitrypsin concentration)\n", + " \n", + " \n", + " Deeply set eye\n", + " definition of HP:0000490 (Deeply set eye)\n", + " \n", + " \n", + " An eye that is more deeply recessed into the plane of the face than is typical.\n", + " definition of HP:0000490 (Deeply set eye)\n", + " \n", + " \n", + " #Deep set eye #Deep-set eyes #Deeply set eye #Enophthalmos #Ocular depression #Sunken eye #Sunken eyes\n", + " definition of HP:0000490 (Deeply set eye)\n", + " \n", + " \n", + " Fallopian tube mass\n", + " definition of HP:0034972 (Fallopian tube mass)\n", + " \n", + " \n", + " A swelling or enlargement localized to the Fallopian tube. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.\n", + " definition of HP:0034972 (Fallopian tube mass)\n", + " \n", + " \n", + " Elevated urinary 2-aminoisobutyric acid\n", + " definition of HP:0025753 (Elevated urinary 2-aminoisobutyric acid)\n", + " \n", + " \n", + " The amount of 2-aminoisobutyric acid in the urine, when normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:0025753 (Elevated urinary 2-aminoisobutyric acid)\n", + " \n", + " \n", + " Acute\n", + " definition of HP:0011009 (Acute)\n", + " \n", + " \n", + " Sudden appearance of disease manifestations over a short period of time.\n", + " definition of HP:0011009 (Acute)\n", + " \n", + " \n", + " #Acute onset\n", + " definition of HP:0011009 (Acute)\n", + " \n", + " \n", + " Thickened cortex of the ulna\n", + " definition of HP:6000812 (Thickened cortex of the ulna)\n", + " \n", + " \n", + " Abnormally increased thickness of the cortical layer of the ulna.\n", + " definition of HP:6000812 (Thickened cortex of the ulna)\n", + " \n", + " \n", + " Ketotic hypoglycemia\n", + " definition of HP:0012734 (Ketotic hypoglycemia)\n", + " \n", + " \n", + " Low blood glucose is accompanied by elevated levels of ketone bodies in the body.\n", + " definition of HP:0012734 (Ketotic hypoglycemia)\n", + " \n", + " \n", + " #Ketotic low blood sugar\n", + " definition of HP:0012734 (Ketotic hypoglycemia)\n", + " \n", + " \n", + " Proximal/middle symphalangism of 4th toe\n", + " definition of HP:0100481 (Proximal/middle symphalangism of 4th toe)\n", + " \n", + " \n", + " Bony fusion of the middle and proximal phalanges of the 4th toe.\n", + " definition of HP:0100481 (Proximal/middle symphalangism of 4th toe)\n", + " \n", + " \n", + " #Fused innermost and middle bones of 4th toe #Symphalangism of the middle and proximal phalanges of the 4th toe\n", + " definition of HP:0100481 (Proximal/middle symphalangism of 4th toe)\n", + " \n", + " \n", + " Foam cells with lamellar inclusion bodies\n", + " definition of HP:0003609 (Foam cells with lamellar inclusion bodies)\n", + " \n", + " \n", + " The presence of foam cells that contain lamellar inclusion bodies.\n", + " definition of HP:0003609 (Foam cells with lamellar inclusion bodies)\n", + " \n", + " \n", + " Abnormality of hair growth\n", + " definition of HP:0040170 (Abnormality of hair growth)\n", + " \n", + " \n", + " Severe periodontitis\n", + " definition of HP:0000166 (Severe periodontitis)\n", + " \n", + " \n", + " A severe form of periodontitis.\n", + " definition of HP:0000166 (Severe periodontitis)\n", + " \n", + " \n", + " #Severe periodontal disease #Severe pyorrhea\n", + " definition of HP:0000166 (Severe periodontitis)\n", + " \n", + " \n", + " Progressive ventriculomegaly\n", + " definition of HP:0007100 (Progressive ventriculomegaly)\n", + " \n", + " \n", + " Undetectable pattern electroretinogram\n", + " definition of HP:0030844 (Undetectable pattern electroretinogram)\n", + " \n", + " \n", + " Absent response to a pattern electroretinogram (PERG).\n", + " definition of HP:0030844 (Undetectable pattern electroretinogram)\n", + " \n", + " \n", + " Anal canal neoplasm\n", + " definition of HP:0030437 (Anal canal neoplasm)\n", + " \n", + " \n", + " #Anal canal tumor #Anal canal tumour\n", + " definition of HP:0030437 (Anal canal neoplasm)\n", + " \n", + " \n", + " Choroid hemorrhage\n", + " definition of HP:0011887 (Choroid hemorrhage)\n", + " \n", + " \n", + " Hemorrhage from the vessels of the choroid.\n", + " definition of HP:0011887 (Choroid hemorrhage)\n", + " \n", + " \n", + " #Choroid haemorrhage #Choroidal haemorrhage #Choroidal hemorrhage\n", + " definition of HP:0011887 (Choroid hemorrhage)\n", + " \n", + " \n", + " EEG with central sharp slow waves\n", + " definition of HP:0011291 (EEG with central sharp slow waves)\n", + " \n", + " \n", + " EEG with sharp slow waves in the central region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.\n", + " definition of HP:0011291 (EEG with central sharp slow waves)\n", + " \n", + " \n", + " Bifid tongue\n", + " definition of HP:0010297 (Bifid tongue)\n", + " \n", + " \n", + " Tongue with a median apical indentation or fork.\n", + " definition of HP:0010297 (Bifid tongue)\n", + " \n", + " \n", + " #Bifurcated tongue #Bilobed tongue #Cleft tongue #Forked tongue #Split tongue\n", + " definition of HP:0010297 (Bifid tongue)\n", + " \n", + " \n", + " Generalized hypopigmentation\n", + " definition of HP:0007513 (Generalized hypopigmentation)\n", + " \n", + " \n", + " #Fair skin #Generalised hypopigmentation #Pale pigmentation\n", + " definition of HP:0007513 (Generalized hypopigmentation)\n", + " \n", + " \n", + " Unfavorable response of muscle weakness to acetylcholine esterase inhibitors\n", + " definition of HP:0030203 (Unfavorable response of muscle weakness to acetylcholine esterase inhibitors)\n", + " \n", + " \n", + " Lack of improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor.\n", + " definition of HP:0030203 (Unfavorable response of muscle weakness to acetylcholine esterase inhibitors)\n", + " \n", + " \n", + " #Unfavourable response of muscle weakness to acetylcholine esterase inhibitors\n", + " definition of HP:0030203 (Unfavorable response of muscle weakness to acetylcholine esterase inhibitors)\n", + " \n", + " \n", + " Atypical sorting\n", + " definition of HP:5200049 (Atypical sorting)\n", + " \n", + " \n", + " Atypical focus on arranging, balancing, or positioning objects; may be atypical in focus or intensity.\n", + " definition of HP:5200049 (Atypical sorting)\n", + " \n", + " \n", + " #Arranging #Ordering\n", + " definition of HP:5200049 (Atypical sorting)\n", + " \n", + " \n", + " Deformed forearm bones\n", + " definition of HP:0003959 (Deformed forearm bones)\n", + " \n", + " \n", + " #Deformed forearm bones\n", + " definition of HP:0003959 (Deformed forearm bones)\n", + " \n", + " \n", + " Reduced social smiling\n", + " definition of HP:5200102 (Reduced social smiling)\n", + " \n", + " \n", + " Reduced production of smiles during engagement with an interactive parent, caregiver, or peer.\n", + " definition of HP:5200102 (Reduced social smiling)\n", + " \n", + " \n", + " Long styloid process of ulna\n", + " definition of HP:0004036 (Long styloid process of ulna)\n", + " \n", + " \n", + " Cerebriform connective tissue nevus\n", + " definition of HP:6000009 (Cerebriform connective tissue nevus)\n", + " \n", + " \n", + " The cerebriform connective tissue nevus (CCTN) is one of the most characteristic skin findings. It commonly occurs on the soles of the feet, and frequently causes problems because of pain, pruritus, infection, bleeding,exudation, odor, and walking impairment.\n", + " definition of HP:6000009 (Cerebriform connective tissue nevus)\n", + " \n", + " \n", + " Preterm intraventricular hemorrhage\n", + " definition of HP:0030747 (Preterm intraventricular hemorrhage)\n", + " \n", + " \n", + " Intraventricular hemorrhage that occurs in a premature infant.\n", + " definition of HP:0030747 (Preterm intraventricular hemorrhage)\n", + " \n", + " \n", + " #Preterm intraventricular haemorrhage\n", + " definition of HP:0030747 (Preterm intraventricular hemorrhage)\n", + " \n", + " \n", + " Posterior pituitary dysgenesis\n", + " definition of HP:0011753 (Posterior pituitary dysgenesis)\n", + " \n", + " \n", + " Abnormal development of the neurohypophysis during embryonic growth and development.\n", + " definition of HP:0011753 (Posterior pituitary dysgenesis)\n", + " \n", + " \n", + " #Neurohypophysis dysplasia #Posterior pituitary dysplasia\n", + " definition of HP:0011753 (Posterior pituitary dysgenesis)\n", + " \n", + " \n", + " Pseudoautosomal dominant inheritance\n", + " definition of HP:0034340 (Pseudoautosomal dominant inheritance)\n", + " \n", + " \n", + " A type of pseudoautosomal inheritance that is dominant and in which heterozygous males and females both manifest a disease phenotype.\n", + " definition of HP:0034340 (Pseudoautosomal dominant inheritance)\n", + " \n", + " \n", + " #monoallelic_PAR\n", + " definition of HP:0034340 (Pseudoautosomal dominant inheritance)\n", + " \n", + " \n", + " Reduced posterior scleral thickness\n", + " definition of HP:0025752 (Reduced posterior scleral thickness)\n", + " \n", + " \n", + " A reduction in the height of the posterior portion of the sclera.\n", + " definition of HP:0025752 (Reduced posterior scleral thickness)\n", + " \n", + " \n", + " Thimble-shaped middle phalanges of hand\n", + " definition of HP:0006193 (Thimble-shaped middle phalanges of hand)\n", + " \n", + " \n", + " The middle phalanx of finger resembles a thimble, a small metal cap to protect the finger while sewing that has a broad (proximal) base and narrower top, whereby both base and top are flat.\n", + " definition of HP:0006193 (Thimble-shaped middle phalanges of hand)\n", + " \n", + " \n", + " #Thimble-shaped middle bones of hand\n", + " definition of HP:0006193 (Thimble-shaped middle phalanges of hand)\n", + " \n", + " \n", + " Convulsive status epilepticus\n", + " definition of HP:0032660 (Convulsive status epilepticus)\n", + " \n", + " \n", + " A type of status epilepticus characterized by a prolonged bilateral tonic-clonic seizure, or repeated bilateral tonic-clonic seizures without recovery between.\n", + " definition of HP:0032660 (Convulsive status epilepticus)\n", + " \n", + " \n", + " #Tonic-clonic status epilepticus\n", + " definition of HP:0032660 (Convulsive status epilepticus)\n", + " \n", + " \n", + " Sparse lower eyelashes\n", + " definition of HP:0007776 (Sparse lower eyelashes)\n", + " \n", + " \n", + " #Hypotrichosis of lower eyelashes #Partial absence of lower eyelashes #Scanty lower eyelashes #Sparse lower eyelashes #Thin lower eyelashes\n", + " definition of HP:0007776 (Sparse lower eyelashes)\n", + " \n", + " \n", + " Sclerotic vertebral endplates\n", + " definition of HP:0004576 (Sclerotic vertebral endplates)\n", + " \n", + " \n", + " Sclerosis (increased density) affecting vertebral end plates.\n", + " definition of HP:0004576 (Sclerotic vertebral endplates)\n", + " \n", + " \n", + " #Endplate sclerosis\n", + " definition of HP:0004576 (Sclerotic vertebral endplates)\n", + " \n", + " \n", + " Leukocytosis\n", + " definition of HP:0001974 (Leukocytosis)\n", + " \n", + " \n", + " An abnormal increase in the number of leukocytes in the blood.\n", + " definition of HP:0001974 (Leukocytosis)\n", + " \n", + " \n", + " #Elevated white blood count #High white blood count #Increased blood leukocyte number\n", + " definition of HP:0001974 (Leukocytosis)\n", + " \n", + " \n", + " Stippling of the epiphysis of the distal phalanx of the 5th toe\n", + " definition of HP:0100211 (Stippling of the epiphysis of the distal phalanx of the 5th toe)\n", + " \n", + " \n", + " The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 5th toe.\n", + " definition of HP:0100211 (Stippling of the epiphysis of the distal phalanx of the 5th toe)\n", + " \n", + " \n", + " #Speckled calcifications in the end part of the outermost bone of the little toe #Speckled calcifications in the end part of the outermost bone of the pinkie toe #Speckled calcifications in the end part of the outermost bone of the pinky toe\n", + " definition of HP:0100211 (Stippling of the epiphysis of the distal phalanx of the 5th toe)\n", + " \n", + " \n", + " Recurrent sinopulmonary infections\n", + " definition of HP:0005425 (Recurrent sinopulmonary infections)\n", + " \n", + " \n", + " An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections.\n", + " definition of HP:0005425 (Recurrent sinopulmonary infections)\n", + " \n", + " \n", + " #Chronic sinopulmonary infection #Recurrent sinus and lung infections\n", + " definition of HP:0005425 (Recurrent sinopulmonary infections)\n", + " \n", + " \n", + " Amniotic constriction ring\n", + " definition of HP:0009775 (Amniotic constriction ring)\n", + " \n", + " \n", + " Annular constrictions around the digits, limbs, or trunk, occurring congenitally (sometimes causing intrauterine autoamputation) and also associated with a wide variety of disorders. Constrictive amniotic bands are the result of primary amniotic rupture, which can lead to entanglement of fetal tissue (especially limbs) in fibrous amniotic strands.\n", + " definition of HP:0009775 (Amniotic constriction ring)\n", + " \n", + " \n", + " #Amniotic bands #Congenital constriction band sequence #Pseudoainhum\n", + " definition of HP:0009775 (Amniotic constriction ring)\n", + " \n", + " \n", + " B lymphocytopenia\n", + " definition of HP:0010976 (B lymphocytopenia)\n", + " \n", + " \n", + " An abnormal decrease from the normal count of B cells.\n", + " definition of HP:0010976 (B lymphocytopenia)\n", + " \n", + " \n", + " #B cell deficiency #B cell lymphopenia #Decreased B cell count #Low B cell count #Reduction in B cell number\n", + " definition of HP:0010976 (B lymphocytopenia)\n", + " \n", + " \n", + " Mediastinal cystic lymphangioma\n", + " definition of HP:0030785 (Mediastinal cystic lymphangioma)\n", + " \n", + " \n", + " A lymphangioma (congenital malformation consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures) located within the mediastinum, i.e., the central compartment of the thoracic cavity that is surrounded by loose connective tissue. Mediastinal lymphangioma is a slow growing mass with benign features, and accounts for 1% of all mediastinal tumors.\n", + " definition of HP:0030785 (Mediastinal cystic lymphangioma)\n", + " \n", + " \n", + " #Intrathoracic cystic hygroma #Thoracic cystic lymphangioma\n", + " definition of HP:0030785 (Mediastinal cystic lymphangioma)\n", + " \n", + " \n", + " Pseudoepiphyses of the middle phalanges of the hand\n", + " definition of HP:0010264 (Pseudoepiphyses of the middle phalanges of the hand)\n", + " \n", + " \n", + " A secondary ossification center in the middle phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.\n", + " definition of HP:0010264 (Pseudoepiphyses of the middle phalanges of the hand)\n", + " \n", + " \n", + " Recurrent cutaneous abscess formation\n", + " definition of HP:0100838 (Recurrent cutaneous abscess formation)\n", + " \n", + " \n", + " An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses.\n", + " definition of HP:0100838 (Recurrent cutaneous abscess formation)\n", + " \n", + " \n", + " Decreased tissue succinic semialdehyde dehydrogenase activity\n", + " definition of HP:0032530 (Decreased tissue succinic semialdehyde dehydrogenase activity)\n", + " \n", + " \n", + " Reduced level of succinic semialdehyde dehydrogenase (SSADH).\n", + " definition of HP:0032530 (Decreased tissue succinic semialdehyde dehydrogenase activity)\n", + " \n", + " \n", + " #Decreased succinic semialdehyde dehydrogenase activity in cultured fibroblasts #Decreased succinic semialdehyde dehydrogenase leukocyte activity #Decreased succinic semialdehyde dehydrogenase level\n", + " definition of HP:0032530 (Decreased tissue succinic semialdehyde dehydrogenase activity)\n", + " \n", + " \n", + " Renal arteriole intima/media hyalinosis\n", + " definition of HP:0033904 (Renal arteriole intima/media hyalinosis)\n", + " \n", + " \n", + " Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material (hyalinosis) in the inner or middle layer of the renal arterioles. This feature may be accompanied by hypertrophy of the media and intima fibrosis.\n", + " definition of HP:0033904 (Renal arteriole intima/media hyalinosis)\n", + " \n", + " \n", + " Abnormal finger phalanx ossification\n", + " definition of HP:6000922 (Abnormal finger phalanx ossification)\n", + " \n", + " \n", + " Any abnormal process of ossification of the phalangeal bones, which normally are ossified from the body and proximal extremity. Ossification of the body commences during the eighth week of fetal development. Ossification of the proximal extremity commences in the bones between the third and fourth years.\n", + " definition of HP:6000922 (Abnormal finger phalanx ossification)\n", + " \n", + " \n", + " Hemobilia\n", + " definition of HP:0100762 (Hemobilia)\n", + " \n", + " \n", + " Bleeding into the biliary tree.\n", + " definition of HP:0100762 (Hemobilia)\n", + " \n", + " \n", + " #Haemobilia\n", + " definition of HP:0100762 (Hemobilia)\n", + " \n", + " \n", + " Delayed fracture healing\n", + " definition of HP:0032537 (Delayed fracture healing)\n", + " \n", + " \n", + " A delay in healing of a fracture past the expected duration.\n", + " definition of HP:0032537 (Delayed fracture healing)\n", + " \n", + " \n", + " Spontaneous platelet aggregation\n", + " definition of HP:0030403 (Spontaneous platelet aggregation)\n", + " \n", + " \n", + " Clumping together of platelets in the blood in a platelet aggregation test without addition of agents normally used to induce aggregation.\n", + " definition of HP:0030403 (Spontaneous platelet aggregation)\n", + " \n", + " \n", + " Focal aware motor seizure with dysarthria/anarthria\n", + " definition of HP:0032733 (Focal aware motor seizure with dysarthria/anarthria)\n", + " \n", + " \n", + " A focal motor seizure with dysarthria / anarthria characterized by retained awareness throughout the seizure.\n", + " definition of HP:0032733 (Focal aware motor seizure with dysarthria/anarthria)\n", + " \n", + " \n", + " #Focal motor aware seizure with dysarthria/anarthria\n", + " definition of HP:0032733 (Focal aware motor seizure with dysarthria/anarthria)\n", + " \n", + " \n", + " Primitive neuroectodermal tumor\n", + " definition of HP:0030065 (Primitive neuroectodermal tumor)\n", + " \n", + " \n", + " A tumor that originates in cells from the primitive neural crest. This group of tumors is characteirzed by the presence of primitive cells with elements of neuronal and/or glial differentiation.\n", + " definition of HP:0030065 (Primitive neuroectodermal tumor)\n", + " \n", + " \n", + " #Primitive neuroectodermal tumour\n", + " definition of HP:0030065 (Primitive neuroectodermal tumor)\n", + " \n", + " \n", + " Posterior embryotoxon\n", + " definition of HP:0000627 (Posterior embryotoxon)\n", + " \n", + " \n", + " A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe.\n", + " definition of HP:0000627 (Posterior embryotoxon)\n", + " \n", + " \n", + " #Embryotoxon\n", + " definition of HP:0000627 (Posterior embryotoxon)\n", + " \n", + " \n", + " Lack of germinal center mitotic figures\n", + " definition of HP:0020264 (Lack of germinal center mitotic figures)\n", + " \n", + " \n", + " Absence of extreme paucity of mitotic figures in a lymph node germinal center.\n", + " definition of HP:0020264 (Lack of germinal center mitotic figures)\n", + " \n", + " \n", + " Defective T cell proliferation\n", + " definition of HP:0030253 (Defective T cell proliferation)\n", + " \n", + " \n", + " A reduced ability of a T cell population to expand by cell division following T cell activation.\n", + " definition of HP:0030253 (Defective T cell proliferation)\n", + " \n", + " \n", + " Frailty\n", + " definition of HP:0033675 (Frailty)\n", + " \n", + " \n", + " A clinically recognizable state of increased vulnerability resulting from a decline in reserve and function across multiple physiologic systems such that the ability to cope with everyday or acute stressors is compromised.\n", + " definition of HP:0033675 (Frailty)\n", + " \n", + " \n", + " Late-onset distal muscle weakness\n", + " definition of HP:0003810 (Late-onset distal muscle weakness)\n", + " \n", + " \n", + " Abnormal gastrointestinal transit time\n", + " definition of HP:0030896 (Abnormal gastrointestinal transit time)\n", + " \n", + " \n", + " A deviation from the normal amount of time required for food to pass through the intestines.\n", + " definition of HP:0030896 (Abnormal gastrointestinal transit time)\n", + " \n", + " \n", + " #Abnormal GI transit time\n", + " definition of HP:0030896 (Abnormal gastrointestinal transit time)\n", + " \n", + " \n", + " Pelvic mass\n", + " definition of HP:0031501 (Pelvic mass)\n", + " \n", + " \n", + " An abnormal enlargement or swelling in the pelvic region.\n", + " definition of HP:0031501 (Pelvic mass)\n", + " \n", + " \n", + " Abnormality of the distal phalanx of the 2nd finger\n", + " definition of HP:0009542 (Abnormality of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Abnormality of terminal index finger phalanx #Abnormality of the outermost bone of the 2nd finger\n", + " definition of HP:0009542 (Abnormality of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Complete duplication of the proximal phalanges of the hand\n", + " definition of HP:0010000 (Complete duplication of the proximal phalanges of the hand)\n", + " \n", + " \n", + " A complete duplication affecting one or more of the proximal phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.\n", + " definition of HP:0010000 (Complete duplication of the proximal phalanges of the hand)\n", + " \n", + " \n", + " #Complete duplication of the innermost bones of the hand\n", + " definition of HP:0010000 (Complete duplication of the proximal phalanges of the hand)\n", + " \n", + " \n", + " Fractured metatarsal bone of digit 1\n", + " definition of HP:0041231 (Fractured metatarsal bone of digit 1)\n", + " \n", + " \n", + " A partial or complete breakage of the metatarsal bone of digit 1.\n", + " definition of HP:0041231 (Fractured metatarsal bone of digit 1)\n", + " \n", + " \n", + " #bone metatarsal bone of digit 1\n", + " definition of HP:0041231 (Fractured metatarsal bone of digit 1)\n", + " \n", + " \n", + " Ovarian teratoma\n", + " definition of HP:0012226 (Ovarian teratoma)\n", + " \n", + " \n", + " The presence of a teratoma in the ovary.\n", + " definition of HP:0012226 (Ovarian teratoma)\n", + " \n", + " \n", + " Reduced tissue 3-methylglutaconyl-CoA hydratase activity\n", + " definition of HP:6000577 (Reduced tissue 3-methylglutaconyl-CoA hydratase activity)\n", + " \n", + " \n", + " Activity of the mitochondrial enzyme 3-methylglutaconyl-CoA hydratase (EC 4.2.1.18) in tissues below the lower limit of normal. The activity can be measured in multiple tissues including culutured fibroblasts.\n", + " definition of HP:6000577 (Reduced tissue 3-methylglutaconyl-CoA hydratase activity)\n", + " \n", + " \n", + " Myocardial fibrosis\n", + " definition of HP:0001685 (Myocardial fibrosis)\n", + " \n", + " \n", + " Myocardial fibrosis is characterized by dysregulated collagen turnover (increased synthesis predominates over unchanged or decreased degradation) and excessive diffuse collagen accumulation in the interstitial and perivascular spaces as well as by phenotypically transformed fibroblasts, termed myofibroblasts.\n", + " definition of HP:0001685 (Myocardial fibrosis)\n", + " \n", + " \n", + " Takotsubo cardiomyopathy\n", + " definition of HP:0011665 (Takotsubo cardiomyopathy)\n", + " \n", + " \n", + " Transient left ventricular apical ballooning syndrome or takotsubo cardiomyopathy is characterized by transient regional systolic dysfunction involving the left ventricular apex and/or mid-ventricle in the absence of obstructive coronary disease on coronary angiography. Patients present with an abrupt onset of angina-like chest pain, and have diffuse T-wave inversion, sometimes preceded by ST-segment elevation, and mild cardiac enzyme elevation.\n", + " definition of HP:0011665 (Takotsubo cardiomyopathy)\n", + " \n", + " \n", + " #Broken-heart syndrome\n", + " definition of HP:0011665 (Takotsubo cardiomyopathy)\n", + " \n", + " \n", + " Narrow face\n", + " definition of HP:0000275 (Narrow face)\n", + " \n", + " \n", + " Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective).\n", + " definition of HP:0000275 (Narrow face)\n", + " \n", + " \n", + " #Decreased breadth of face #Decreased horizontal dimension of face #Decreased transverse dimension of face #Decreased width of face #Horizontal deficiency of face #Horizontal hypoplasia of face #Horizontal insufficiency of face #Narrow face #Narrow facies #Thin facies #Transverse deficiency of face #Transverse hypoplasia of face #Transverse insufficiency of face\n", + " definition of HP:0000275 (Narrow face)\n", + " \n", + " \n", + " Epicanthus tarsalis\n", + " definition of HP:0031771 (Epicanthus tarsalis)\n", + " \n", + " \n", + " A type of epicanthus in which a primarily upper lid fold is present.\n", + " definition of HP:0031771 (Epicanthus tarsalis)\n", + " \n", + " \n", + " Testicular pain\n", + " definition of HP:0033839 (Testicular pain)\n", + " \n", + " \n", + " An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to one or both testes.\n", + " definition of HP:0033839 (Testicular pain)\n", + " \n", + " \n", + " #Pain in testicles\n", + " definition of HP:0033839 (Testicular pain)\n", + " \n", + " \n", + " Elevated alkaline phosphatase of hepatic origin\n", + " definition of HP:0010638 (Elevated alkaline phosphatase of hepatic origin)\n", + " \n", + " \n", + " An abnormally increased level of liver isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.\n", + " definition of HP:0010638 (Elevated alkaline phosphatase of hepatic origin)\n", + " \n", + " \n", + " #Elevated ALP of hepatic origin\n", + " definition of HP:0010638 (Elevated alkaline phosphatase of hepatic origin)\n", + " \n", + " \n", + " Triangular epiphyses of the 4th toe\n", + " definition of HP:0100076 (Triangular epiphyses of the 4th toe)\n", + " \n", + " \n", + " #Triangular end part of the 4th toe bone\n", + " definition of HP:0100076 (Triangular epiphyses of the 4th toe)\n", + " \n", + " \n", + " Anti-streptococcus deoxyribonuclease-B antibody positivity\n", + " definition of HP:6000732 (Anti-streptococcus deoxyribonuclease-B antibody positivity)\n", + " \n", + " \n", + " The presence of antibodies in the blood circulation that react against streptococcal deoxyribonuclease-B (ADN-B). Almost all group A streptococci have this antigen and a strong elevation of the antibody is observed in patients with acute rheumatic fever, acute glomerulonephritis and other streptococcal infections.\n", + " definition of HP:6000732 (Anti-streptococcus deoxyribonuclease-B antibody positivity)\n", + " \n", + " \n", + " Anomalous origin of left pulmonary artery from ascending aorta\n", + " definition of HP:0011661 (Anomalous origin of left pulmonary artery from ascending aorta)\n", + " \n", + " \n", + " The left pulmonary artery originates from the ascending aorta in the presence of a pulmonary valve and main pulmonary artery.\n", + " definition of HP:0011661 (Anomalous origin of left pulmonary artery from ascending aorta)\n", + " \n", + " \n", + " Generalized muscle weakness\n", + " definition of HP:0003324 (Generalized muscle weakness)\n", + " \n", + " \n", + " Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.\n", + " definition of HP:0003324 (Generalized muscle weakness)\n", + " \n", + " \n", + " #Generalised muscle weakness #Generalised weakness #Generalized weakness #Muscle weakness, diffuse #Muscle weakness, generalised #Muscle weakness, generalized\n", + " definition of HP:0003324 (Generalized muscle weakness)\n", + " \n", + " \n", + " Laryngotracheal stenosis\n", + " definition of HP:0004894 (Laryngotracheal stenosis)\n", + " \n", + " \n", + " Necrotizing enterocolitis\n", + " definition of HP:0033165 (Necrotizing enterocolitis)\n", + " \n", + " \n", + " Inflammation of the intestine leading to bacterial invasion causing cellular damage and death which causes necrosis of the colon and intestine.\n", + " definition of HP:0033165 (Necrotizing enterocolitis)\n", + " \n", + " \n", + " Enlarged epiphysis of the distal phalanx of the 2nd toe\n", + " definition of HP:0100103 (Enlarged epiphysis of the distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Enlarged end part of the outermost bone of the 2nd toe\n", + " definition of HP:0100103 (Enlarged epiphysis of the distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Anti-HLA-A antibody positivity\n", + " definition of HP:0034019 (Anti-HLA-A antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen-A (HLA-A).\n", + " definition of HP:0034019 (Anti-HLA-A antibody positivity)\n", + " \n", + " \n", + " Abnormal circulating phytanic acid concentration\n", + " definition of HP:0010965 (Abnormal circulating phytanic acid concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of phytanic acid in the blood circulation.\n", + " definition of HP:0010965 (Abnormal circulating phytanic acid concentration)\n", + " \n", + " \n", + " #Abnormal circulating phytanic acid level\n", + " definition of HP:0010965 (Abnormal circulating phytanic acid concentration)\n", + " \n", + " \n", + " Agalactia\n", + " definition of HP:0031109 (Agalactia)\n", + " \n", + " \n", + " Failure of secretion of milk following childbirth associated with an inability to breastfeed an infant.\n", + " definition of HP:0031109 (Agalactia)\n", + " \n", + " \n", + " #Lactation incapacity\n", + " definition of HP:0031109 (Agalactia)\n", + " \n", + " \n", + " 3-5 finger syndactyly\n", + " definition of HP:0010710 (3-5 finger syndactyly)\n", + " \n", + " \n", + " A soft tissue continuity in the anteroposterior axis between the middle to little fingers that extends distally to at least the level of the proximal interphalangeal joints.\n", + " definition of HP:0010710 (3-5 finger syndactyly)\n", + " \n", + " \n", + " #Webbed third, fourth and fifth toes\n", + " definition of HP:0010710 (3-5 finger syndactyly)\n", + " \n", + " \n", + " 2,8-dihydroxyadenine crystalluria\n", + " definition of HP:0034279 (2,8-dihydroxyadenine crystalluria)\n", + " \n", + " \n", + " The presence of 2,8-dihydroxyadenine crystals in the urine. The crystals appear as round, yellow-brown crystals.\n", + " definition of HP:0034279 (2,8-dihydroxyadenine crystalluria)\n", + " \n", + " \n", + " #2,8-dihydroxyadenine urinary crystals\n", + " definition of HP:0034279 (2,8-dihydroxyadenine crystalluria)\n", + " \n", + " \n", + " Cleft vertebral arch\n", + " definition of HP:0004616 (Cleft vertebral arch)\n", + " \n", + " \n", + " A discontinuity of the vertebral arch, i.e., of the posterior part of a vertebra.\n", + " definition of HP:0004616 (Cleft vertebral arch)\n", + " \n", + " \n", + " Irregular metacarpals\n", + " definition of HP:0006160 (Irregular metacarpals)\n", + " \n", + " \n", + " Irregular morphology of one or more metacarpal bones.\n", + " definition of HP:0006160 (Irregular metacarpals)\n", + " \n", + " \n", + " #Irregular long bones of hand\n", + " definition of HP:0006160 (Irregular metacarpals)\n", + " \n", + " \n", + " Enlarged peroxisomes\n", + " definition of HP:6000151 (Enlarged peroxisomes)\n", + " \n", + " \n", + " Abnormal increase in size of peroxisomes.\n", + " definition of HP:6000151 (Enlarged peroxisomes)\n", + " \n", + " \n", + " #Peroxisomal enlargement\n", + " definition of HP:6000151 (Enlarged peroxisomes)\n", + " \n", + " \n", + " Hyperxanthinemia\n", + " definition of HP:0010933 (Hyperxanthinemia)\n", + " \n", + " \n", + " An increased level of xanthine in the blood circulation.\n", + " definition of HP:0010933 (Hyperxanthinemia)\n", + " \n", + " \n", + " #Increased circulating xanthine concentration\n", + " definition of HP:0010933 (Hyperxanthinemia)\n", + " \n", + " \n", + " Focal-onset seizure evolving into bilateral convulsive status epilepticus\n", + " definition of HP:0032662 (Focal-onset seizure evolving into bilateral convulsive status epilepticus)\n", + " \n", + " \n", + " A type of bilateral convulsive seizure of focal onset (which could be with awareness or impaired awareness, either motor or non- motor) that is sufficiently prolonged (or repeated without recovery) to reach the threshold for status epilepticus.\n", + " definition of HP:0032662 (Focal-onset seizure evolving into bilateral convulsive status epilepticus)\n", + " \n", + " \n", + " #Focal onset seizure evolving into bilateral convulsive status epilepticus #Focal-onset seizure evolving into generalised convulsive status epilepticus #Focal-onset seizure evolving into generalized convulsive status epilepticus #Partial onset seizure evolving into convulsive status epilepticus #Partial-onset seizure evolving into convulsive status epilepticus #Secondarily generalised convulsive status epilepticus #Secondarily generalised tonic-clonic status epilepticus #Secondarily generalized convulsive status epilepticus #Secondarily generalized tonic-clonic status epilepticus\n", + " definition of HP:0032662 (Focal-onset seizure evolving into bilateral convulsive status epilepticus)\n", + " \n", + " \n", + " Contact dermatitis\n", + " definition of HP:0032282 (Contact dermatitis)\n", + " \n", + " \n", + " An inflammatory process in skin caused by an exogenous agent that directly or indirectly injure the skin. If the offending agent is identified and removed, the eruption will resolve. An unusual or patterned eruption may be a clue to the presence of a contact dermatitis. Patch testing may be helpful in the differential diagnosis.\n", + " definition of HP:0032282 (Contact dermatitis)\n", + " \n", + " \n", + " Large joint hypermobilty\n", + " definition of HP:0430047 (Large joint hypermobilty)\n", + " \n", + " \n", + " The capability that a large joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Large joints include shoulders, elbows, hips, knees, and ankles.\n", + " definition of HP:0430047 (Large joint hypermobilty)\n", + " \n", + " \n", + " Pulmonary oligemia\n", + " definition of HP:0033671 (Pulmonary oligemia)\n", + " \n", + " \n", + " Oligemia is a reduction in pulmonary blood volume. Most frequently, this reduction is regional, but occasionally it is generalized. Regional oligemia is usually associated with reduced blood flow in the oligemic area. Oligemia appears as a regional or widespread decrease in the size and number of identifiable pulmonary vessels, which is indicative of less than normal blood flow.\n", + " definition of HP:0033671 (Pulmonary oligemia)\n", + " \n", + " \n", + " Reduced tissue palmitoyl-protein thioesterase activity\n", + " definition of HP:6000783 (Reduced tissue palmitoyl-protein thioesterase activity)\n", + " \n", + " \n", + " Activity of the enzyme palmitoyl-protein thioesterase (PPT; EC 3.1.2.22) in tissues below the lower limit of normal. The activity can be measured in multiple tissues including culutured fibroblasts and leukocytes.\n", + " definition of HP:6000783 (Reduced tissue palmitoyl-protein thioesterase activity)\n", + " \n", + " \n", + " Genital hernia\n", + " definition of HP:0100823 (Genital hernia)\n", + " \n", + " \n", + " Complete atrioventricular canal defect\n", + " definition of HP:0001674 (Complete atrioventricular canal defect)\n", + " \n", + " \n", + " A congenital heart defect characterized by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect.\n", + " definition of HP:0001674 (Complete atrioventricular canal defect)\n", + " \n", + " \n", + " #Atrioventricular canal #Common atrioventricular canal #Complete atrioventricular septal defect #Complete common AV canal\n", + " definition of HP:0001674 (Complete atrioventricular canal defect)\n", + " \n", + " \n", + " Aplasia of the pyramids of the medulla oblongata\n", + " definition of HP:0034973 (Aplasia of the pyramids of the medulla oblongata)\n", + " \n", + " \n", + " Congenital absence of the pyramids, that is, of the paired structures located at the medial aspect of the ventral medulla that flank the anterior median fissure.\n", + " definition of HP:0034973 (Aplasia of the pyramids of the medulla oblongata)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the tibia\n", + " definition of HP:0005772 (Aplasia/Hypoplasia of the tibia)\n", + " \n", + " \n", + " Absence or underdevelopment of the tibia.\n", + " definition of HP:0005772 (Aplasia/Hypoplasia of the tibia)\n", + " \n", + " \n", + " #Absent/hypoplastic tibia #Absent/small shankbone #Absent/small shinbone #Absent/underdeveloped shankbone #Absent/underdeveloped shinbone #Aplastic/hypoplastic tibia\n", + " definition of HP:0005772 (Aplasia/Hypoplasia of the tibia)\n", + " \n", + " \n", + " Intracellular accumulation of collagen VII\n", + " definition of HP:0034999 (Intracellular accumulation of collagen VII)\n", + " \n", + " \n", + " Collagen VII is the major molecular constituent of anchoring fibrils in the skin. Collagen VII is synthesized as three identical pro-alpha1(VII) polypeptide chains, which are hydroxylated and glycosylated in a coordinated manner and then fold into triple-helical procollagen VII in the endoplasmic reticulum (ER). Mature collagen VII undergoes a multistep fibril polymerization process to form the anchoring fibrils. Mutant pro-alpha1(VII) polypeptide chains or procollagen VII molecules do not pass the ER quality control and are retained in the ER or designated for ubiquitin-proteasome degradation resulting in reduced amounts of collagen VII in the skin.\n", + " definition of HP:0034999 (Intracellular accumulation of collagen VII)\n", + " \n", + " \n", + " Purulent eye discharge\n", + " definition of HP:0034427 (Purulent eye discharge)\n", + " \n", + " \n", + " Secretion of pus-like (purulent) material from the eye, which may caused the eyelids to be matted together.\n", + " definition of HP:0034427 (Purulent eye discharge)\n", + " \n", + " \n", + " #Mucopurulent discharge from the eye\n", + " definition of HP:0034427 (Purulent eye discharge)\n", + " \n", + " \n", + " Inverted nipples\n", + " definition of HP:0003186 (Inverted nipples)\n", + " \n", + " \n", + " The presence of nipples that instead of pointing outward are retracted inwards.\n", + " definition of HP:0003186 (Inverted nipples)\n", + " \n", + " \n", + " #Invaginated nipples #Inverted nipples\n", + " definition of HP:0003186 (Inverted nipples)\n", + " \n", + " \n", + " Excyclophoria\n", + " definition of HP:0031779 (Excyclophoria)\n", + " \n", + " \n", + " A type of cyclophoria (latent strabismus in which the occluded eye wheel-rotates on dissociation.) in which the upper poles of the globes are rotated outward (laterally) to each other.\n", + " definition of HP:0031779 (Excyclophoria)\n", + " \n", + " \n", + " Abnormal cardiovascular system morphology\n", + " definition of HP:0030680 (Abnormal cardiovascular system morphology)\n", + " \n", + " \n", + " Any structural anomaly of the heart and blood vessels.\n", + " definition of HP:0030680 (Abnormal cardiovascular system morphology)\n", + " \n", + " \n", + " #Abnormality of cardiovascular system morphology #Cardiovascular malformations\n", + " definition of HP:0030680 (Abnormal cardiovascular system morphology)\n", + " \n", + " \n", + " Abnormal arcuate vein intima/media morphology\n", + " definition of HP:0033879 (Abnormal arcuate vein intima/media morphology)\n", + " \n", + " \n", + " Any structural anomaly located in the inner or middle layer of the arcuate veins of the kidney.\n", + " definition of HP:0033879 (Abnormal arcuate vein intima/media morphology)\n", + " \n", + " \n", + " Focal cortical dysplasia type IIId\n", + " definition of HP:0032058 (Focal cortical dysplasia type IIId)\n", + " \n", + " \n", + " A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to other lesions acquired during early life (not included into FCD Type IIIa-c). These lesions comprise a large spectrum including traumatic brain injury, glial scarring after prenatal or perinatal ischemic injury or bleeding, and inflammatory or infectious diseases, i.e. Rasmussen encephalitis, limbic encephalitis, bacterial or viral infections.\n", + " definition of HP:0032058 (Focal cortical dysplasia type IIId)\n", + " \n", + " \n", + " Complete duplication of the middle phalanx of the 3rd finger\n", + " definition of HP:0009966 (Complete duplication of the middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " Complete duplication of the middle phalanx of middle finger.\n", + " definition of HP:0009966 (Complete duplication of the middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Complete duplication of the middle bone of the middle finger\n", + " definition of HP:0009966 (Complete duplication of the middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " Increased circulating hypoxanthine concentration\n", + " definition of HP:0034333 (Increased circulating hypoxanthine concentration)\n", + " \n", + " \n", + " Elevated concentration of hypoxanthine in the blood circulation.\n", + " definition of HP:0034333 (Increased circulating hypoxanthine concentration)\n", + " \n", + " \n", + " #Hypoxanthine high in blood\n", + " definition of HP:0034333 (Increased circulating hypoxanthine concentration)\n", + " \n", + " \n", + " Decreased core 1 O-glycan level\n", + " definition of HP:0410361 (Decreased core 1 O-glycan level)\n", + " \n", + " \n", + " An abnormal decrease in the concentration of core 1 O-glycans on glycoproteins.\n", + " definition of HP:0410361 (Decreased core 1 O-glycan level)\n", + " \n", + " \n", + " #Decreased T-antigen concentration\n", + " definition of HP:0410361 (Decreased core 1 O-glycan level)\n", + " \n", + " \n", + " Abnormal metaphyseal vascular invasion\n", + " definition of HP:0003562 (Abnormal metaphyseal vascular invasion)\n", + " \n", + " \n", + " Stippling of the epiphysis of the distal phalanx of the 2nd toe\n", + " definition of HP:0100109 (Stippling of the epiphysis of the distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd toe.\n", + " definition of HP:0100109 (Stippling of the epiphysis of the distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Speckled calcifications in the end part of the outermost bone of the 2nd toe\n", + " definition of HP:0100109 (Stippling of the epiphysis of the distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Gelatinous drop-like dystrophic cornea\n", + " definition of HP:6000712 (Gelatinous drop-like dystrophic cornea)\n", + " \n", + " \n", + " Deposition of amyloid material in the subepithelial space of the cornea.\n", + " definition of HP:6000712 (Gelatinous drop-like dystrophic cornea)\n", + " \n", + " \n", + " Volvulus\n", + " definition of HP:0002580 (Volvulus)\n", + " \n", + " \n", + " Abnormal twisting of a portion of intestine around itself or around a stalk of mesentery tissue.\n", + " definition of HP:0002580 (Volvulus)\n", + " \n", + " \n", + " Akinetic mutism\n", + " definition of HP:0012672 (Akinetic mutism)\n", + " \n", + " \n", + " The combined absence of spontaneous movement (akinesia) and speech (mutism). There may be eye movements consistent with visual tracking and the person may remember the events occurring at the time of the experience of stupor.\n", + " definition of HP:0012672 (Akinetic mutism)\n", + " \n", + " \n", + " #Stuporous mutism\n", + " definition of HP:0012672 (Akinetic mutism)\n", + " \n", + " \n", + " Enlargement of the distal femoral epiphysis\n", + " definition of HP:0006438 (Enlargement of the distal femoral epiphysis)\n", + " \n", + " \n", + " An abnormal enlargement of the distal epiphysis of the femur.\n", + " definition of HP:0006438 (Enlargement of the distal femoral epiphysis)\n", + " \n", + " \n", + " #Enlargement of the outermost thighbone end part #Large distal femoral epiphyses\n", + " definition of HP:0006438 (Enlargement of the distal femoral epiphysis)\n", + " \n", + " \n", + " Leukoencephalopathy\n", + " definition of HP:0002352 (Leukoencephalopathy)\n", + " \n", + " \n", + " This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells.\n", + " definition of HP:0002352 (Leukoencephalopathy)\n", + " \n", + " \n", + " Peritoneal abscess\n", + " definition of HP:0100592 (Peritoneal abscess)\n", + " \n", + " \n", + " The presence of an abscess of the peritoneum.\n", + " definition of HP:0100592 (Peritoneal abscess)\n", + " \n", + " \n", + " Anuria\n", + " definition of HP:0100519 (Anuria)\n", + " \n", + " \n", + " Absence of urine, clinically classified as below 50ml/day.\n", + " definition of HP:0100519 (Anuria)\n", + " \n", + " \n", + " #Absent urine output\n", + " definition of HP:0100519 (Anuria)\n", + " \n", + " \n", + " Hypermetropia\n", + " definition of HP:0000540 (Hypermetropia)\n", + " \n", + " \n", + " An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.\n", + " definition of HP:0000540 (Hypermetropia)\n", + " \n", + " \n", + " #Farsightedness #Hyperopia #Long-sightedness\n", + " definition of HP:0000540 (Hypermetropia)\n", + " \n", + " \n", + " Abdominal aseptic abscess\n", + " definition of HP:0025181 (Abdominal aseptic abscess)\n", + " \n", + " \n", + " An abscess-like lesion located within the abdomen. The lesions are localized in the spleen, liver, abdominal lymph nodes. The lesions represent visceral sterile collections of mature neutrophils that do not respond to antibiotics but regress quickly when treated with corticosteroids, but relapses occur frequently.\n", + " definition of HP:0025181 (Abdominal aseptic abscess)\n", + " \n", + " \n", + " Exacerbated by methylxanthine ingestion\n", + " definition of HP:0032534 (Exacerbated by methylxanthine ingestion)\n", + " \n", + " \n", + " Applied to a sign or symptom that is worsened by ingestion of food containing a methylxanthine compound (for instance, coffee, caffeine, chocolate).\n", + " definition of HP:0032534 (Exacerbated by methylxanthine ingestion)\n", + " \n", + " \n", + " #Methylxanthines produce worsening\n", + " definition of HP:0032534 (Exacerbated by methylxanthine ingestion)\n", + " \n", + " \n", + " Lower cranial nerve dysfunction\n", + " definition of HP:0410262 (Lower cranial nerve dysfunction)\n", + " \n", + " \n", + " A functional abnormality affecting the lower cranial nerves, which include the paired 9th (glossopharyngeal), 10th (vagal), 11th (accessory) and 12th (hypoglossal) cranial nerves.\n", + " definition of HP:0410262 (Lower cranial nerve dysfunction)\n", + " \n", + " \n", + " #Abnormal lower cranial nerve function\n", + " definition of HP:0410262 (Lower cranial nerve dysfunction)\n", + " \n", + " \n", + " Optic disc hypoplasia\n", + " definition of HP:0007766 (Optic disc hypoplasia)\n", + " \n", + " \n", + " Underdevelopment of the optic disc, that is of the optic nerve head, where ganglion cell axons exit the eye to form the optic nerve.\n", + " definition of HP:0007766 (Optic disc hypoplasia)\n", + " \n", + " \n", + " #Hypoplastic optic discs\n", + " definition of HP:0007766 (Optic disc hypoplasia)\n", + " \n", + " \n", + " Interlobular bile duct destruction\n", + " definition of HP:0025344 (Interlobular bile duct destruction)\n", + " \n", + " \n", + " Damage to and obliteration of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts).\n", + " definition of HP:0025344 (Interlobular bile duct destruction)\n", + " \n", + " \n", + " Laryngeal calcification\n", + " definition of HP:0008754 (Laryngeal calcification)\n", + " \n", + " \n", + " Calcification (abnormal deposits of calcium) in the laryngeal tissues.\n", + " definition of HP:0008754 (Laryngeal calcification)\n", + " \n", + " \n", + " #Laryngeal calcifications\n", + " definition of HP:0008754 (Laryngeal calcification)\n", + " \n", + " \n", + " Gingival calcification\n", + " definition of HP:0025141 (Gingival calcification)\n", + " \n", + " \n", + " Ectopic deposition of calcium salts found in the gingiva.\n", + " definition of HP:0025141 (Gingival calcification)\n", + " \n", + " \n", + " #Gingival calcifications\n", + " definition of HP:0025141 (Gingival calcification)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the midbrain\n", + " definition of HP:0034258 (Aplasia/Hypoplasia of the midbrain)\n", + " \n", + " \n", + " Absence or underdevelopment of the midbrain (mesencephalon).\n", + " definition of HP:0034258 (Aplasia/Hypoplasia of the midbrain)\n", + " \n", + " \n", + " #Aplasia/Hypoplasia of the mesencephalon\n", + " definition of HP:0034258 (Aplasia/Hypoplasia of the midbrain)\n", + " \n", + " \n", + " Granulovacuolar degeneration\n", + " definition of HP:0002528 (Granulovacuolar degeneration)\n", + " \n", + " \n", + " Electron-dense granules within double membrane-bound cytoplasmic vacuoles.\n", + " definition of HP:0002528 (Granulovacuolar degeneration)\n", + " \n", + " \n", + " Triceps hyperreflexia\n", + " definition of HP:0033204 (Triceps hyperreflexia)\n", + " \n", + " \n", + " Increased intensity of the triceps reflex.\n", + " definition of HP:0033204 (Triceps hyperreflexia)\n", + " \n", + " \n", + " Vitreomacular adhesion\n", + " definition of HP:0031150 (Vitreomacular adhesion)\n", + " \n", + " \n", + " Perifoveal vitreous separation with remaining vitreomacular attachment and unperturbed foveal morphologic features. It is an OCT finding that is almost always the result of normal vitreous aging, which may lead to pathologic conditions.\n", + " definition of HP:0031150 (Vitreomacular adhesion)\n", + " \n", + " \n", + " #VMA\n", + " definition of HP:0031150 (Vitreomacular adhesion)\n", + " \n", + " \n", + " Nevus flammeus of the forehead\n", + " definition of HP:0007413 (Nevus flammeus of the forehead)\n", + " \n", + " \n", + " Naevus flammeus localized in the skin of the forehead.\n", + " definition of HP:0007413 (Nevus flammeus of the forehead)\n", + " \n", + " \n", + " #Port-wine stain on forehead\n", + " definition of HP:0007413 (Nevus flammeus of the forehead)\n", + " \n", + " \n", + " Hyperprolinemia\n", + " definition of HP:0008358 (Hyperprolinemia)\n", + " \n", + " \n", + " An increased concentration of proline in the blood.\n", + " definition of HP:0008358 (Hyperprolinemia)\n", + " \n", + " \n", + " #Prolinemia\n", + " definition of HP:0008358 (Hyperprolinemia)\n", + " \n", + " \n", + " Erythrocyte inclusion bodies\n", + " definition of HP:0020080 (Erythrocyte inclusion bodies)\n", + " \n", + " \n", + " Nuclear or cytoplasmic aggregates of substances in red blood cells.\n", + " definition of HP:0020080 (Erythrocyte inclusion bodies)\n", + " \n", + " \n", + " Reduced acetaldehyde dehydrogenase level\n", + " definition of HP:0003533 (Reduced acetaldehyde dehydrogenase level)\n", + " \n", + " \n", + " Decreased level of acetaldehyde dehydrogenase (ALDH). ALDH and alcohol dehydrogenase (ADH) are the primary enzymes involved in alcohol metabolism.\n", + " definition of HP:0003533 (Reduced acetaldehyde dehydrogenase level)\n", + " \n", + " \n", + " #Delayed oxidation of acetaldehyde\n", + " definition of HP:0003533 (Reduced acetaldehyde dehydrogenase level)\n", + " \n", + " \n", + " Stomach cancer\n", + " definition of HP:0012126 (Stomach cancer)\n", + " \n", + " \n", + " A cancer arising in any part of the stomach.\n", + " definition of HP:0012126 (Stomach cancer)\n", + " \n", + " \n", + " #Gastric cancer\n", + " definition of HP:0012126 (Stomach cancer)\n", + " \n", + " \n", + " Adrenocortical adenoma\n", + " definition of HP:0008256 (Adrenocortical adenoma)\n", + " \n", + " \n", + " Adrenocortical adenomas are benign tumors of the adrenal cortex.\n", + " definition of HP:0008256 (Adrenocortical adenoma)\n", + " \n", + " \n", + " #Adrenocortical adenomas\n", + " definition of HP:0008256 (Adrenocortical adenoma)\n", + " \n", + " \n", + " Interrupted aortic arch\n", + " definition of HP:0011611 (Interrupted aortic arch)\n", + " \n", + " \n", + " Non-continuity of the arch of aorta with an atretic point or absent segment.\n", + " definition of HP:0011611 (Interrupted aortic arch)\n", + " \n", + " \n", + " #Atretic transverse aortic arch\n", + " definition of HP:0011611 (Interrupted aortic arch)\n", + " \n", + " \n", + " Pointed proximal second through fifth metacarpals\n", + " definition of HP:0001223 (Pointed proximal second through fifth metacarpals)\n", + " \n", + " \n", + " All of the metacarpal bones of the hand have a pointed proximal appearance.\n", + " definition of HP:0001223 (Pointed proximal second through fifth metacarpals)\n", + " \n", + " \n", + " Symphalangism of the thumb\n", + " definition of HP:0009656 (Symphalangism of the thumb)\n", + " \n", + " \n", + " Congenital fusion (ankylosis) of the interphalangeal joint of the thumb.\n", + " definition of HP:0009656 (Symphalangism of the thumb)\n", + " \n", + " \n", + " #Fused thumb bones #Fused thumb phalanges #Symphalangism of the distal and proximal phalanges of the thumb\n", + " definition of HP:0009656 (Symphalangism of the thumb)\n", + " \n", + " \n", + " Ulnar deviation of finger\n", + " definition of HP:0009465 (Ulnar deviation of finger)\n", + " \n", + " \n", + " Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.\n", + " definition of HP:0009465 (Ulnar deviation of finger)\n", + " \n", + " \n", + " #Finger bends toward pinky #Ulnar Drift\n", + " definition of HP:0009465 (Ulnar deviation of finger)\n", + " \n", + " \n", + " Triangular epiphysis of the middle phalanx of the 4th finger\n", + " definition of HP:0009224 (Triangular epiphysis of the middle phalanx of the 4th finger)\n", + " \n", + " \n", + " A triangular appearance of the epiphysis of the middle phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.\n", + " definition of HP:0009224 (Triangular epiphysis of the middle phalanx of the 4th finger)\n", + " \n", + " \n", + " #Delta-shaped epiphysis of the middle phalanx of the 4th finger #Triangular end part of the middle bone of the ring finger\n", + " definition of HP:0009224 (Triangular epiphysis of the middle phalanx of the 4th finger)\n", + " \n", + " \n", + " Abnormal iliac wing morphology\n", + " definition of HP:0011867 (Abnormal iliac wing morphology)\n", + " \n", + " \n", + " An anomaly of the ilium ala. This is the large expanded portion of the ilum which bounds the greater pelvis laterally.\n", + " definition of HP:0011867 (Abnormal iliac wing morphology)\n", + " \n", + " \n", + " #Abnormality of the wing of the ilium\n", + " definition of HP:0011867 (Abnormal iliac wing morphology)\n", + " \n", + " \n", + " Decreased proportion of central memory CD4-positive, alpha-beta T cells\n", + " definition of HP:0410388 (Decreased proportion of central memory CD4-positive, alpha-beta T cells)\n", + " \n", + " \n", + " A reduced proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.\n", + " definition of HP:0410388 (Decreased proportion of central memory CD4-positive, alpha-beta T cells)\n", + " \n", + " \n", + " #Decreased proportion of CD4+ central memory cells #Decreased proportion of CD4-positive central memory cells #Decreased proportion of central memory CD4+, alpha-beta T cell #Reduced proportion of CD4+ central memory cells\n", + " definition of HP:0410388 (Decreased proportion of central memory CD4-positive, alpha-beta T cells)\n", + " \n", + " \n", + " Paroxysmal drowsiness\n", + " definition of HP:0002330 (Paroxysmal drowsiness)\n", + " \n", + " \n", + " A neurological disorder marked by a sudden recurrent uncontrollable compulsion to sleep\n", + " definition of HP:0002330 (Paroxysmal drowsiness)\n", + " \n", + " \n", + " #A neurological disorder marked by a sudden recurrent uncontrollable compulsion to sleep\n", + " definition of HP:0002330 (Paroxysmal drowsiness)\n", + " \n", + " \n", + " CSF mycobacteria\n", + " definition of HP:0034748 (CSF mycobacteria)\n", + " \n", + " \n", + " Mycobacterium present in the cerebrospinal fluid (CSF). This feature can be ascertained by CSF microscopy.\n", + " definition of HP:0034748 (CSF mycobacteria)\n", + " \n", + " \n", + " Capsular cataract\n", + " definition of HP:0100017 (Capsular cataract)\n", + " \n", + " \n", + " A cataract that affects the capsule of the lens.\n", + " definition of HP:0100017 (Capsular cataract)\n", + " \n", + " \n", + " Absence of large von Willebrand factor multimers\n", + " definition of HP:0030132 (Absence of large von Willebrand factor multimers)\n", + " \n", + " \n", + " Absence of large von Willebrand Factor multimers on gel electrophoresis.\n", + " definition of HP:0030132 (Absence of large von Willebrand factor multimers)\n", + " \n", + " \n", + " Squared off shoulders\n", + " definition of HP:6000464 (Squared off shoulders)\n", + " \n", + " \n", + " An appearance of the shoulders whereby the neck-trapezius angle (angle between the neck and the shoulder) and the angle formed by the shoulder and the arms hanging at the side of the body are both close to 90 degrees. This gives the should the appearance of the corner of a square.\n", + " definition of HP:6000464 (Squared off shoulders)\n", + " \n", + " \n", + " Abnormal fetal pulmonary morphology\n", + " definition of HP:0034243 (Abnormal fetal pulmonary morphology)\n", + " \n", + " \n", + " An anomalous structural finding of the fetal lungs. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.\n", + " definition of HP:0034243 (Abnormal fetal pulmonary morphology)\n", + " \n", + " \n", + " Labile Hypertension\n", + " definition of HP:6000321 (Labile Hypertension)\n", + " \n", + " \n", + " Frequent fluctuations of blood pressure between normal and high levels, changing more dramatically than normal.\n", + " definition of HP:6000321 (Labile Hypertension)\n", + " \n", + " \n", + " Abnormal lymphocyte physiology\n", + " definition of HP:0031409 (Abnormal lymphocyte physiology)\n", + " \n", + " \n", + " Any anomaly of lymphocyte function.\n", + " definition of HP:0031409 (Abnormal lymphocyte physiology)\n", + " \n", + " \n", + " Abnormal circulating C-peptide concentration\n", + " definition of HP:0030794 (Abnormal circulating C-peptide concentration)\n", + " \n", + " \n", + " An anomalous circulating concentration of the connecting (C) peptide, which links the insulin A and B chains in proinsulin, providing thereby a means to promote their efficient folding and assembly in the endoplasmic reticulum during insulin biosynthesis. After cleavage of proinsulin, C-peptide is stored with insulin in the soluble phase of the secretory granules and is subsequently released in equimolar amounts with insulin, providing a useful independent indicator of insulin secretion.\n", + " definition of HP:0030794 (Abnormal circulating C-peptide concentration)\n", + " \n", + " \n", + " #Abnormal C peptide level #Abnormal C-peptide level\n", + " definition of HP:0030794 (Abnormal circulating C-peptide concentration)\n", + " \n", + " \n", + " Elevated circulating monomethyl sterol concentration\n", + " definition of HP:6000753 (Elevated circulating monomethyl sterol concentration)\n", + " \n", + " \n", + " Concentration of monomethylsterols (such as 4alpha-monomethylsterol) in the blood circulation above the upper limit of normal.\n", + " definition of HP:6000753 (Elevated circulating monomethyl sterol concentration)\n", + " \n", + " \n", + " Delayed canalization of nasolacrimal duct\n", + " definition of HP:0500048 (Delayed canalization of nasolacrimal duct)\n", + " \n", + " \n", + " A very common condition in which the extreme end of the nasolacrimal duct underneath the inferior turbinate fails to complete its canalization in the newborn period.\n", + " definition of HP:0500048 (Delayed canalization of nasolacrimal duct)\n", + " \n", + " \n", + " Upturned corners of mouth\n", + " definition of HP:0010805 (Upturned corners of mouth)\n", + " \n", + " \n", + " Oral commissures positioned superior to the midline labial fissure.\n", + " definition of HP:0010805 (Upturned corners of mouth)\n", + " \n", + " \n", + " #Upturned corners of mouth #Upturned mouth #Upturned oral commisures\n", + " definition of HP:0010805 (Upturned corners of mouth)\n", + " \n", + " \n", + " Irregular epiphysis of the distal phalanx of the 4th toe\n", + " definition of HP:0100174 (Irregular epiphysis of the distal phalanx of the 4th toe)\n", + " \n", + " \n", + " #Irregular end part of the outermost bone of the 4th toe\n", + " definition of HP:0100174 (Irregular epiphysis of the distal phalanx of the 4th toe)\n", + " \n", + " \n", + " Spina bifida occulta\n", + " definition of HP:0003298 (Spina bifida occulta)\n", + " \n", + " \n", + " The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin.\n", + " definition of HP:0003298 (Spina bifida occulta)\n", + " \n", + " \n", + " Cirrhosis\n", + " definition of HP:0001394 (Cirrhosis)\n", + " \n", + " \n", + " A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.\n", + " definition of HP:0001394 (Cirrhosis)\n", + " \n", + " \n", + " #Hepatic cirrhosis #Scar tissue replaces healthy tissue in the liver\n", + " definition of HP:0001394 (Cirrhosis)\n", + " \n", + " \n", + " Laryngeal atresia\n", + " definition of HP:0008750 (Laryngeal atresia)\n", + " \n", + " \n", + " Congenital absence of the lumen of the larynx. Laryngeal atresia is a rare condition. If the laryngeal opening fails to develop, fluid secreted by the lungs cannot be expelled. In a fetus with laryngeal atresia, the lungs are either normal or hyperplastic, not hypoplastic. Mortality is reported as 100%. At obstetric US examination, views of the fetal neck demonstrate a dilated trachea filled with trapped fluid. Views of the fetal chest show enlarged, hyperechoic lungs, with dilated fluid-filled bronchi. Fetal ascites is usually present.\n", + " definition of HP:0008750 (Laryngeal atresia)\n", + " \n", + " \n", + " Ski jump nail\n", + " definition of HP:0030819 (Ski jump nail)\n", + " \n", + " \n", + " Nails that slope upward at the free edge.\n", + " definition of HP:0030819 (Ski jump nail)\n", + " \n", + " \n", + " #Upslanting nail #Upward angulation of nail\n", + " definition of HP:0030819 (Ski jump nail)\n", + " \n", + " \n", + " Spondyloepimetaphyseal dysplasia\n", + " definition of HP:0002651 (Spondyloepimetaphyseal dysplasia)\n", + " \n", + " \n", + " Bullet-shaped distal toe phalanx\n", + " definition of HP:0010187 (Bullet-shaped distal toe phalanx)\n", + " \n", + " \n", + " An abnormal morphology of one or more distal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.\n", + " definition of HP:0010187 (Bullet-shaped distal toe phalanx)\n", + " \n", + " \n", + " #Bullet-shaped distal phalanges of the toes #Bullet-shaped outermost bone of the toe\n", + " definition of HP:0010187 (Bullet-shaped distal toe phalanx)\n", + " \n", + " \n", + " Cardiomyocyte mitochondrial proliferation\n", + " definition of HP:0031320 (Cardiomyocyte mitochondrial proliferation)\n", + " \n", + " \n", + " An abnormal increase in the number of mitochondria per cardiac myocyte.\n", + " definition of HP:0031320 (Cardiomyocyte mitochondrial proliferation)\n", + " \n", + " \n", + " Fractured epiphysis of third metacarpal bone\n", + " definition of HP:0041191 (Fractured epiphysis of third metacarpal bone)\n", + " \n", + " \n", + " A partial or complete breakage of the epiphysis of third metacarpal bone.\n", + " definition of HP:0041191 (Fractured epiphysis of third metacarpal bone)\n", + " \n", + " \n", + " #bone epiphysis of third metacarpal bone\n", + " definition of HP:0041191 (Fractured epiphysis of third metacarpal bone)\n", + " \n", + " \n", + " Protracted diarrhea\n", + " definition of HP:0004385 (Protracted diarrhea)\n", + " \n", + " \n", + " #Protracted diarrhoea\n", + " definition of HP:0004385 (Protracted diarrhea)\n", + " \n", + " \n", + " Increased CSF taurine concentration\n", + " definition of HP:0034455 (Increased CSF taurine concentration)\n", + " \n", + " \n", + " Increased concentration of taurine in the cerebrospinal fluid (CSF).\n", + " definition of HP:0034455 (Increased CSF taurine concentration)\n", + " \n", + " \n", + " #Taurine high in CSF\n", + " definition of HP:0034455 (Increased CSF taurine concentration)\n", + " \n", + " \n", + " Horner syndrome\n", + " definition of HP:0002277 (Horner syndrome)\n", + " \n", + " \n", + " An abnormality resulting from a lesion of the sympathetic nervous system characterized by a combination of unilateral ptosis, miosis, and often ipsilateral hypohidrosis and conjunctival injection.\n", + " definition of HP:0002277 (Horner syndrome)\n", + " \n", + " \n", + " #Horner's syndrome #Oculosympathetic palsy\n", + " definition of HP:0002277 (Horner syndrome)\n", + " \n", + " \n", + " Increased alveolar volume\n", + " definition of HP:0033634 (Increased alveolar volume)\n", + " \n", + " \n", + " An abnormal elevation in alveolar volume.\n", + " definition of HP:0033634 (Increased alveolar volume)\n", + " \n", + " \n", + " Disorder of thought control\n", + " definition of HP:5200419 (Disorder of thought control)\n", + " \n", + " \n", + " A false belief that another person, group of people, or external force controls one's general thoughts, feelings, impulses, or behaviors.\n", + " definition of HP:5200419 (Disorder of thought control)\n", + " \n", + " \n", + " #Delusion of control\n", + " definition of HP:5200419 (Disorder of thought control)\n", + " \n", + " \n", + " Perihepatic enhancement\n", + " definition of HP:6000148 (Perihepatic enhancement)\n", + " \n", + " \n", + " Increased signal (contrast enhancement) surrounding the liver observed on computer tomography or magnetic resonance imaging following administration of contrast agents.\n", + " definition of HP:6000148 (Perihepatic enhancement)\n", + " \n", + " \n", + " #Peri-hepatic enhancement\n", + " definition of HP:6000148 (Perihepatic enhancement)\n", + " \n", + " \n", + " Gastrointestinal obstruction\n", + " definition of HP:0004796 (Gastrointestinal obstruction)\n", + " \n", + " \n", + " #Gastrointestinal obstruction #GI obstruction #Obstruction in digestive tract\n", + " definition of HP:0004796 (Gastrointestinal obstruction)\n", + " \n", + " \n", + " Postmenopausal bleeding\n", + " definition of HP:0033840 (Postmenopausal bleeding)\n", + " \n", + " \n", + " Uterine bleeding that occurs after at least one year of amenorrhea in a woman who is not receiving hormone therapy.\n", + " definition of HP:0033840 (Postmenopausal bleeding)\n", + " \n", + " \n", + " Impaired lymphocyte transformation with phytohemagglutinin\n", + " definition of HP:0003347 (Impaired lymphocyte transformation with phytohemagglutinin)\n", + " \n", + " \n", + " Normal peripheral blood lymphocytes, when stimulated by phytohemagglutinin (PHA) are cytotoxic for homologous and heterologous cells but not for autologous cells in monolayer culture. The cytotoxic effect is thought to be indicative of the immunological competence of the lymphocytes.\n", + " definition of HP:0003347 (Impaired lymphocyte transformation with phytohemagglutinin)\n", + " \n", + " \n", + " Fractured cervical vertebra\n", + " definition of HP:0041167 (Fractured cervical vertebra)\n", + " \n", + " \n", + " A partial or complete breakage of the cervical vertebra.\n", + " definition of HP:0041167 (Fractured cervical vertebra)\n", + " \n", + " \n", + " #bone cervical vertebra\n", + " definition of HP:0041167 (Fractured cervical vertebra)\n", + " \n", + " \n", + " Nonarteriosclerotic cerebral calcification\n", + " definition of HP:0007238 (Nonarteriosclerotic cerebral calcification)\n", + " \n", + " \n", + " #Cerebral calcification, nonarteriosclerotic\n", + " definition of HP:0007238 (Nonarteriosclerotic cerebral calcification)\n", + " \n", + " \n", + " Anal atresia\n", + " definition of HP:0002023 (Anal atresia)\n", + " \n", + " \n", + " Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.\n", + " definition of HP:0002023 (Anal atresia)\n", + " \n", + " \n", + " #Absent anus\n", + " definition of HP:0002023 (Anal atresia)\n", + " \n", + " \n", + " Stahl ear\n", + " definition of HP:0100015 (Stahl ear)\n", + " \n", + " \n", + " The presence of a supernumerary, i.e. third, crus of the helix in the helix, arising at or above the normal bifurcation of the antihelix.\n", + " definition of HP:0100015 (Stahl ear)\n", + " \n", + " \n", + " #Additional crus #Third crus\n", + " definition of HP:0100015 (Stahl ear)\n", + " \n", + " \n", + " Severely reduced visual acuity\n", + " definition of HP:0001141 (Severely reduced visual acuity)\n", + " \n", + " \n", + " Severe reduction of the ability to see. On the 6m visual acuity scale, severe reduction is defined as less than 6/60 but at least 3/60. On the 20ft visual acuity scale, severe reduction is defined as less than 20/200 but at least 20/400. On the decimal visual acuity scale, severe reduction is defined as less than 0.1 but at least 0.05.\n", + " definition of HP:0001141 (Severely reduced visual acuity)\n", + " \n", + " \n", + " #Marked vision impairment #Severe reduction in visual acuity #Severe vision loss #Severe visual impairment #Severe visual loss #Severely impaired vision\n", + " definition of HP:0001141 (Severely reduced visual acuity)\n", + " \n", + " \n", + " Functional abnormality of the bladder\n", + " definition of HP:0000009 (Functional abnormality of the bladder)\n", + " \n", + " \n", + " Dysfunction of the urinary bladder.\n", + " definition of HP:0000009 (Functional abnormality of the bladder)\n", + " \n", + " \n", + " #Poor bladder function\n", + " definition of HP:0000009 (Functional abnormality of the bladder)\n", + " \n", + " \n", + " Short middle phalanx of the 2nd toe\n", + " definition of HP:0010435 (Short middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " Reduced length of the middle phalanx of second toe as a result of developmental hypoplasia.\n", + " definition of HP:0010435 (Short middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Hypoplastic/small middle phalanx of the 2nd toe #Short middle 2nd toe bone #Short middle phalanx of the second toe\n", + " definition of HP:0010435 (Short middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " Fetal pleural effusion\n", + " definition of HP:0025676 (Fetal pleural effusion)\n", + " \n", + " \n", + " Fetal pleural effusion is the accumulation of excess fluid in the layers of tissue (pleura) lining the lungs and wall of the chest. It may be primary, also termed hydrothorax, occurring as an isolated finding or it may be secondary, most commonly resulting from non-immune hydrops.\n", + " definition of HP:0025676 (Fetal pleural effusion)\n", + " \n", + " \n", + " Positive stool barbiturate test\n", + " definition of HP:0410202 (Positive stool barbiturate test)\n", + " \n", + " \n", + " Detection of barbiturate metabolites such as phenobarbital in the stool.\n", + " definition of HP:0410202 (Positive stool barbiturate test)\n", + " \n", + " \n", + " Posterior fossa cyst at the fourth ventricle\n", + " definition of HP:0000933 (Posterior fossa cyst at the fourth ventricle)\n", + " \n", + " \n", + " Afibrinogenemia\n", + " definition of HP:0034287 (Afibrinogenemia)\n", + " \n", + " \n", + " Lack of detectable fibrinogen in the blood circulation.\n", + " definition of HP:0034287 (Afibrinogenemia)\n", + " \n", + " \n", + " Abnormal forebrain morphology\n", + " definition of HP:0100547 (Abnormal forebrain morphology)\n", + " \n", + " \n", + " An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle.\n", + " definition of HP:0100547 (Abnormal forebrain morphology)\n", + " \n", + " \n", + " #Abnormal shape of forebrain #Abnormality of forebrain morphology #Abnormality of the forebrain\n", + " definition of HP:0100547 (Abnormal forebrain morphology)\n", + " \n", + " \n", + " Solitary congenital hypertrophy of retinal pigment epithelium\n", + " definition of HP:0011528 (Solitary congenital hypertrophy of retinal pigment epithelium)\n", + " \n", + " \n", + " Sharply demarcated hyperpigmentation which is congenital found in around 3-5% of the population and of no functional significance.\n", + " definition of HP:0011528 (Solitary congenital hypertrophy of retinal pigment epithelium)\n", + " \n", + " \n", + " #Single isolated CHRPE #Single isolated congenital hypertrophy of retinal pigment epithelium\n", + " definition of HP:0011528 (Solitary congenital hypertrophy of retinal pigment epithelium)\n", + " \n", + " \n", + " Renal interstitial immunoglobulin deposits\n", + " definition of HP:0032616 (Renal interstitial immunoglobulin deposits)\n", + " \n", + " \n", + " Accumulation of an immunoglobulin in the interstitial tissue of the kidney. The immunoglobulin may be a monoclonal Ig or the corresponding heavy-chain (HC) or light-chain (LC) subunit. By convention this definition excludes Ig-derived amyloidosis (amyloidosis can be distinguished by its affinity for Congo red staining).\n", + " definition of HP:0032616 (Renal interstitial immunoglobulin deposits)\n", + " \n", + " \n", + " #Renal interstitial immunoglobulin deposition\n", + " definition of HP:0032616 (Renal interstitial immunoglobulin deposits)\n", + " \n", + " \n", + " Loss of eyelashes\n", + " definition of HP:0011457 (Loss of eyelashes)\n", + " \n", + " \n", + " This term refers to the loss of eyelashes that were previously present.\n", + " definition of HP:0011457 (Loss of eyelashes)\n", + " \n", + " \n", + " #Ciliary Madarosis #Eyelashes fell out #Loss of eyelashes #Milphosis #Missing eyelashes\n", + " definition of HP:0011457 (Loss of eyelashes)\n", + " \n", + " \n", + " Type 1 muscle fiber predominance\n", + " definition of HP:0003803 (Type 1 muscle fiber predominance)\n", + " \n", + " \n", + " An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy).\n", + " definition of HP:0003803 (Type 1 muscle fiber predominance)\n", + " \n", + " \n", + " #Type 1 muscle fibre predominance #Type I muscle fiber predominance #Type I muscle fibre predominance\n", + " definition of HP:0003803 (Type 1 muscle fiber predominance)\n", + " \n", + " \n", + " Abnormality of the glenoid fossa\n", + " definition of HP:0011912 (Abnormality of the glenoid fossa)\n", + " \n", + " \n", + " An anomaly of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus.\n", + " definition of HP:0011912 (Abnormality of the glenoid fossa)\n", + " \n", + " \n", + " Abnormal sacral segmentation\n", + " definition of HP:0008468 (Abnormal sacral segmentation)\n", + " \n", + " \n", + " An abnormality related to a defect of vertebral separation of sacral vertebrae during development.\n", + " definition of HP:0008468 (Abnormal sacral segmentation)\n", + " \n", + " \n", + " Anti-endothelin-1 type A receptor antibody positivity\n", + " definition of HP:0034095 (Anti-endothelin-1 type A receptor antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against endothelin-1 type A receptor.\n", + " definition of HP:0034095 (Anti-endothelin-1 type A receptor antibody positivity)\n", + " \n", + " \n", + " #Anti-ETAR antibody positivity\n", + " definition of HP:0034095 (Anti-endothelin-1 type A receptor antibody positivity)\n", + " \n", + " \n", + " Post-vaccination rubella\n", + " definition of HP:0020089 (Post-vaccination rubella)\n", + " \n", + " \n", + " Infection with the rubella virus of the live-attenuated vaccine.\n", + " definition of HP:0020089 (Post-vaccination rubella)\n", + " \n", + " \n", + " Abnormal blood ion concentration\n", + " definition of HP:0003111 (Abnormal blood ion concentration)\n", + " \n", + " \n", + " Abnormality of the homeostasis (concentration) of a monoatomic ion.\n", + " definition of HP:0003111 (Abnormal blood ion concentration)\n", + " \n", + " \n", + " #Abnormality of ion homeostasis #Electrolyte disorders #Electrolyte disturbance\n", + " definition of HP:0003111 (Abnormal blood ion concentration)\n", + " \n", + " \n", + " Reduced growth-hormone binding protein level\n", + " definition of HP:0031036 (Reduced growth-hormone binding protein level)\n", + " \n", + " \n", + " A decreased blood concentration of growth hormone binding protein.\n", + " definition of HP:0031036 (Reduced growth-hormone binding protein level)\n", + " \n", + " \n", + " #Decreased plasma GH-binding protein\n", + " definition of HP:0031036 (Reduced growth-hormone binding protein level)\n", + " \n", + " \n", + " Anterior chamber cyst\n", + " definition of HP:0025311 (Anterior chamber cyst)\n", + " \n", + " \n", + " A closed sac, having a distinct membrane and division compared to the nearby tissue located within the anterior chamber. The sac that may contain air, fluids, or semi-solid material.\n", + " definition of HP:0025311 (Anterior chamber cyst)\n", + " \n", + " \n", + " Abnormal cerebral morphology\n", + " definition of HP:0002060 (Abnormal cerebral morphology)\n", + " \n", + " \n", + " Any structural abnormality of the telencephalon, which is also known as the cerebrum.\n", + " definition of HP:0002060 (Abnormal cerebral morphology)\n", + " \n", + " \n", + " #Abnormality of the cerebrum #Abnormality of the telencephalon #Cerebral lesion\n", + " definition of HP:0002060 (Abnormal cerebral morphology)\n", + " \n", + " \n", + " Positive CSF VDRL test\n", + " definition of HP:6000395 (Positive CSF VDRL test)\n", + " \n", + " \n", + " An abnormal (positive) result of the Venereal Disease Research Laboratory (VDRL) test performed in cerebrospinal fluid (CSF), suggesting past or present neurosyphilis.\n", + " definition of HP:6000395 (Positive CSF VDRL test)\n", + " \n", + " \n", + " Distributive shock\n", + " definition of HP:0031275 (Distributive shock)\n", + " \n", + " \n", + " A hyperdynamic process resulting from excessive vasodilatation. Impaired blood flow causes inadequate tissue perfusion, which can lead to end-organ damage\n", + " definition of HP:0031275 (Distributive shock)\n", + " \n", + " \n", + " Nonrimmed muscule vacuoles\n", + " definition of HP:6000978 (Nonrimmed muscule vacuoles)\n", + " \n", + " \n", + " Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, non-rimmed vacuoles lack the prominent dark border (rim) seen in rimmed vacuoles.\n", + " definition of HP:6000978 (Nonrimmed muscule vacuoles)\n", + " \n", + " \n", + " Increased urinary high-mannose-type oligosaccharide\n", + " definition of HP:0410347 (Increased urinary high-mannose-type oligosaccharide)\n", + " \n", + " \n", + " An abnormal increase in the concentration of high-mannose-type oligosaccharides in the urine.\n", + " definition of HP:0410347 (Increased urinary high-mannose-type oligosaccharide)\n", + " \n", + " \n", + " #Increased concentration of high-mannose-type oligosaccharides in urine\n", + " definition of HP:0410347 (Increased urinary high-mannose-type oligosaccharide)\n", + " \n", + " \n", + " Alzheimer disease\n", + " definition of HP:0002511 (Alzheimer disease)\n", + " \n", + " \n", + " A degenerative disease of the brain characterized by the insidious onset of dementia. Impairment of memory, judgment, attention span, and problem solving skills are followed by severe apraxia and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of senile plaques, neurofibrillary tangles, and neuropil threads.\n", + " definition of HP:0002511 (Alzheimer disease)\n", + " \n", + " \n", + " #Alzheimer disease #Late-onset form of familial Alzheimer disease\n", + " definition of HP:0002511 (Alzheimer disease)\n", + " \n", + " \n", + " Amplification of comfort with casual physical contact\n", + " definition of HP:5200325 (Amplification of comfort with casual physical contact)\n", + " \n", + " \n", + " An increase in the tendency of a person to be comfortable with physical contact with others compared to that person's previous norm. Often considered to be intrusive and encroaching on personal space of others less known to the person, frequently causing discomfort and may result in argument or altercation.\n", + " definition of HP:5200325 (Amplification of comfort with casual physical contact)\n", + " \n", + " \n", + " #Increase in comfort with casual physical contact\n", + " definition of HP:5200325 (Amplification of comfort with casual physical contact)\n", + " \n", + " \n", + " Whorled\n", + " definition of HP:6001050 (Whorled)\n", + " \n", + " \n", + " Applies to an abnormality whose distribution and appearance resembles series of a concentric circles or spirals.\n", + " definition of HP:6001050 (Whorled)\n", + " \n", + " \n", + " Perinephric fluid collection\n", + " definition of HP:0031226 (Perinephric fluid collection)\n", + " \n", + " \n", + " An accumulation of fluid in one or more of the perinephric spaces, which consist of the subcapsular, perirenal, anterior and posterior pararenal spaces. This abnormality can be demonstrated by cross-sectional imaging, particularly computed tomography.\n", + " definition of HP:0031226 (Perinephric fluid collection)\n", + " \n", + " \n", + " Oropharyngeal squamous cell carcinoma\n", + " definition of HP:0012182 (Oropharyngeal squamous cell carcinoma)\n", + " \n", + " \n", + " A squamous cell carcinoma that originates in the oropharnyx.\n", + " definition of HP:0012182 (Oropharyngeal squamous cell carcinoma)\n", + " \n", + " \n", + " HbC hemoglobin\n", + " definition of HP:0032146 (HbC hemoglobin)\n", + " \n", + " \n", + " Presence of an abnormal type of hemoglobin characterized by the substitution of a glutamic acid residue at position 7 following the initial methionine residue by a lysine (6GAG>6AAG). The presence of HbC can be determined by hemoglobin electrophoresis.\n", + " definition of HP:0032146 (HbC hemoglobin)\n", + " \n", + " \n", + " #Haemoglobin C #HbC haemoglobin #Hemoglobin C\n", + " definition of HP:0032146 (HbC hemoglobin)\n", + " \n", + " \n", + " Tubular basement membrane disintegration\n", + " definition of HP:0005583 (Tubular basement membrane disintegration)\n", + " \n", + " \n", + " DIsruption and breaking up of the basement membrane of the tubules of the kidney.\n", + " definition of HP:0005583 (Tubular basement membrane disintegration)\n", + " \n", + " \n", + " #Disintegration of the tubular basement membrane\n", + " definition of HP:0005583 (Tubular basement membrane disintegration)\n", + " \n", + " \n", + " Steroetypic upper-extremity movements\n", + " definition of HP:5200018 (Steroetypic upper-extremity movements)\n", + " \n", + " \n", + " Abnormal movements of the upper extremities.\n", + " definition of HP:5200018 (Steroetypic upper-extremity movements)\n", + " \n", + " \n", + " Morbus Kienboeck\n", + " definition of HP:0010889 (Morbus Kienboeck)\n", + " \n", + " \n", + " Morbus Kienboeck is a Juvenile aseptic necrosis affecting the Os lunatum.\n", + " definition of HP:0010889 (Morbus Kienboeck)\n", + " \n", + " \n", + " #Kienboeck's disease #Kienböck's disease #Lunatomalacia\n", + " definition of HP:0010889 (Morbus Kienboeck)\n", + " \n", + " \n", + " Intestinal edema\n", + " definition of HP:0005225 (Intestinal edema)\n", + " \n", + " \n", + " Accumulation of cell free, noninflammatony fluid within the wall of the intestinal tract producing uniform thickening of the mucosal folds.\n", + " definition of HP:0005225 (Intestinal edema)\n", + " \n", + " \n", + " #Intestinal oedema\n", + " definition of HP:0005225 (Intestinal edema)\n", + " \n", + " \n", + " Appendiceal mucinous neoplasm\n", + " definition of HP:0031499 (Appendiceal mucinous neoplasm)\n", + " \n", + " \n", + " An epithelial neoplasm originating in the appendix and often associated with cystic dilation of the appendix due to accumulation of gelatinous material, morphologically referred to as mucoceles.\n", + " definition of HP:0031499 (Appendiceal mucinous neoplasm)\n", + " \n", + " \n", + " Abnormal factor IX activity\n", + " definition of HP:0033062 (Abnormal factor IX activity)\n", + " \n", + " \n", + " Abnormal activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa.\n", + " definition of HP:0033062 (Abnormal factor IX activity)\n", + " \n", + " \n", + " Cone dystrophy\n", + " definition of HP:0008020 (Cone dystrophy)\n", + " \n", + " \n", + " Inherited progressive cone degeneration.\n", + " definition of HP:0008020 (Cone dystrophy)\n", + " \n", + " \n", + " #Progressive cone degeneration #Progressive cone dystrophy\n", + " definition of HP:0008020 (Cone dystrophy)\n", + " \n", + " \n", + " Posterior mediastinal mass\n", + " definition of HP:0033829 (Posterior mediastinal mass)\n", + " \n", + " \n", + " A type of inferior mediastinal mass that is located behind the pericardium.\n", + " definition of HP:0033829 (Posterior mediastinal mass)\n", + " \n", + " \n", + " Proximal femoral epiphysiolysis\n", + " definition of HP:0006461 (Proximal femoral epiphysiolysis)\n", + " \n", + " \n", + " Slipped capital femoral epiphysis is defined as a posterior and inferior slippage of the proximal epiphysis of the femur onto the metaphysis (femoral neck), occurring through the physeal plate during the early adolescent growth spurt.\n", + " definition of HP:0006461 (Proximal femoral epiphysiolysis)\n", + " \n", + " \n", + " #Slipped capital femoral epiphyses #Slipped capital femoral epiphysis #Slipped end part of innermost thighbone\n", + " definition of HP:0006461 (Proximal femoral epiphysiolysis)\n", + " \n", + " \n", + " Ectopia cordis\n", + " definition of HP:0001683 (Ectopia cordis)\n", + " \n", + " \n", + " Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and through the defect in the ventral wall.\n", + " definition of HP:0001683 (Ectopia cordis)\n", + " \n", + " \n", + " Ranula\n", + " definition of HP:0030706 (Ranula)\n", + " \n", + " \n", + " A ranula is a mucocele that occurs in the floor of the mouth and usually involve the major salivary glands. Specifically, the ranula originates in the body of the sublingual gland, in the ducts of the sublingual gland, in the Wharton's duct of the submandibular gland or infrequently from the minor salivary glands at this location.\n", + " definition of HP:0030706 (Ranula)\n", + " \n", + " \n", + " #Sublingual cyst #Sublingual ptyalocele\n", + " definition of HP:0030706 (Ranula)\n", + " \n", + " \n", + " Delayed femoral head ossification\n", + " definition of HP:0008829 (Delayed femoral head ossification)\n", + " \n", + " \n", + " Delayed ossification of the femoral head.\n", + " definition of HP:0008829 (Delayed femoral head ossification)\n", + " \n", + " \n", + " Medial rectus muscle weakness\n", + " definition of HP:0031753 (Medial rectus muscle weakness)\n", + " \n", + " \n", + " Decreased strength of the medial rectus muscle.\n", + " definition of HP:0031753 (Medial rectus muscle weakness)\n", + " \n", + " \n", + " Renal tubular epithelial cell detachment\n", + " definition of HP:0032595 (Renal tubular epithelial cell detachment)\n", + " \n", + " \n", + " Tubular cross section with a space between the basolateral aspect of tubular epithelium and its basement membrane; classified as global when at least 2/3 circumference of the tubular cross section are involved and segmental when less than 2/3 are involved.\n", + " definition of HP:0032595 (Renal tubular epithelial cell detachment)\n", + " \n", + " \n", + " Painless mass\n", + " definition of HP:0025761 (Painless mass)\n", + " \n", + " \n", + " This modifier is applied to a palpable mass or swelling in the body that does not elicit pain upon palpation.\n", + " definition of HP:0025761 (Painless mass)\n", + " \n", + " \n", + " Focal aware cognitive seizure with expressive dysphasia/aphasia\n", + " definition of HP:0032850 (Focal aware cognitive seizure with expressive dysphasia/aphasia)\n", + " \n", + " \n", + " A focal cognitive seizure with expressive dysphasia / aphasia characterized by retained awareness throughout the seizure.\n", + " definition of HP:0032850 (Focal aware cognitive seizure with expressive dysphasia/aphasia)\n", + " \n", + " \n", + " Pre-capillary pulmonary hypertension\n", + " definition of HP:0033578 (Pre-capillary pulmonary hypertension)\n", + " \n", + " \n", + " Pre-capillary pulmonary hypertension is a haemodynamic condition characterized by elevated mean pulmonary artery pressure (mPAP over 20 mmHg) and pulmonary vascular resistance (PVR 3 Wood units or more) accompanied by normal pulmonary artery wedge pressure (PAWP not more than 15 mmHg).\n", + " definition of HP:0033578 (Pre-capillary pulmonary hypertension)\n", + " \n", + " \n", + " #Precapillary pulmonary hypertension\n", + " definition of HP:0033578 (Pre-capillary pulmonary hypertension)\n", + " \n", + " \n", + " 3-4 toe cutaneous syndactyly\n", + " definition of HP:6000648 (3-4 toe cutaneous syndactyly)\n", + " \n", + " \n", + " A soft tissue continuity in the anteroposterior axis between the toes 3 and 4.\n", + " definition of HP:6000648 (3-4 toe cutaneous syndactyly)\n", + " \n", + " \n", + " Disproportionate prominence of the femoral medial condyle\n", + " definition of HP:0006437 (Disproportionate prominence of the femoral medial condyle)\n", + " \n", + " \n", + " 2-ethylhydracylic aciduria\n", + " definition of HP:0033220 (2-ethylhydracylic aciduria)\n", + " \n", + " \n", + " An increased concentration of 2-ethylhydracylic acid in the urine.\n", + " definition of HP:0033220 (2-ethylhydracylic aciduria)\n", + " \n", + " \n", + " #Elevated urinary 2-ethylhydracylic acid #Elevated urinary 2-methylbutyrylglycine\n", + " definition of HP:0033220 (2-ethylhydracylic aciduria)\n", + " \n", + " \n", + " Thickened calvaria\n", + " definition of HP:0002684 (Thickened calvaria)\n", + " \n", + " \n", + " The presence of an abnormally thick calvaria.\n", + " definition of HP:0002684 (Thickened calvaria)\n", + " \n", + " \n", + " #Calvarial thickening #Calvarium thickened #Increased calvarial thickness #Increased thickness of calvaria #Increased thickness of calvarium #Increased thickness of cranial vault #Increased thickness of skull cap #Thick calvaria #Thick calvarium #Thickened calvarium #Thickened cranial vault #Thickened cranium #Thickened skull cap #Thickening of the calvaria\n", + " definition of HP:0002684 (Thickened calvaria)\n", + " \n", + " \n", + " Cerebral atrophy\n", + " definition of HP:0002059 (Cerebral atrophy)\n", + " \n", + " \n", + " Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.\n", + " definition of HP:0002059 (Cerebral atrophy)\n", + " \n", + " \n", + " #Degeneration of cerebrum\n", + " definition of HP:0002059 (Cerebral atrophy)\n", + " \n", + " \n", + " Parotid gland adenocarcinoma\n", + " definition of HP:0034704 (Parotid gland adenocarcinoma)\n", + " \n", + " \n", + " An adenocarcinoma that arises from the parotid gland.\n", + " definition of HP:0034704 (Parotid gland adenocarcinoma)\n", + " \n", + " \n", + " Nemaline bodies\n", + " definition of HP:0003798 (Nemaline bodies)\n", + " \n", + " \n", + " Nemaline rods are abnormal bodies that can occur in skeletal muscle fibers. The rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces.\n", + " definition of HP:0003798 (Nemaline bodies)\n", + " \n", + " \n", + " #Nemaline rods\n", + " definition of HP:0003798 (Nemaline bodies)\n", + " \n", + " \n", + " White papule\n", + " definition of HP:0031289 (White papule)\n", + " \n", + " \n", + " A papule with white color.\n", + " definition of HP:0031289 (White papule)\n", + " \n", + " \n", + " Amyotrophy of ankle musculature\n", + " definition of HP:0009031 (Amyotrophy of ankle musculature)\n", + " \n", + " \n", + " Atrophy of the muscles of the ankle.\n", + " definition of HP:0009031 (Amyotrophy of ankle musculature)\n", + " \n", + " \n", + " Stippling of the epiphysis of the middle phalanx of the 3rd finger\n", + " definition of HP:0009330 (Stippling of the epiphysis of the middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 3rd finger.\n", + " definition of HP:0009330 (Stippling of the epiphysis of the middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Speckled calcifications in end part of the middle bone of the middle finger\n", + " definition of HP:0009330 (Stippling of the epiphysis of the middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " Abnormality of inferior oblique extraocular muscle\n", + " definition of HP:3000057 (Abnormality of inferior oblique extraocular muscle)\n", + " \n", + " \n", + " An abnormality of an inferior oblique extraocular muscle.\n", + " definition of HP:3000057 (Abnormality of inferior oblique extraocular muscle)\n", + " \n", + " \n", + " #Abnormality of the inferior oblique muscle\n", + " definition of HP:3000057 (Abnormality of inferior oblique extraocular muscle)\n", + " \n", + " \n", + " Abnormality on pulmonary function testing\n", + " definition of HP:0030878 (Abnormality on pulmonary function testing)\n", + " \n", + " \n", + " Any anomaly measure by pulmonary function testing, which includes spirometry, measures of diffusing capacity, and plethysmography.\n", + " definition of HP:0030878 (Abnormality on pulmonary function testing)\n", + " \n", + " \n", + " #Abnormal pulmonary function test\n", + " definition of HP:0030878 (Abnormality on pulmonary function testing)\n", + " \n", + " \n", + " Cerebrospinal fluid eosinophilia\n", + " definition of HP:6000824 (Cerebrospinal fluid eosinophilia)\n", + " \n", + " \n", + " Presence of at least 10% eosinophils in the total cerebrospinal fluid (CSF) leukocyte count.\n", + " definition of HP:6000824 (Cerebrospinal fluid eosinophilia)\n", + " \n", + " \n", + " #Eosinophilia in the CSF\n", + " definition of HP:6000824 (Cerebrospinal fluid eosinophilia)\n", + " \n", + " \n", + " Platyspondyly\n", + " definition of HP:0000926 (Platyspondyly)\n", + " \n", + " \n", + " A flattened vertebral body shape with reduced distance between the vertebral endplates.\n", + " definition of HP:0000926 (Platyspondyly)\n", + " \n", + " \n", + " #Flat vertebral bodies #Flattened vertebrae #Flattened vertebral bodies\n", + " definition of HP:0000926 (Platyspondyly)\n", + " \n", + " \n", + " Decreased CSF homovanillic acid concentration\n", + " definition of HP:0003785 (Decreased CSF homovanillic acid concentration)\n", + " \n", + " \n", + " Decreased concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine.\n", + " definition of HP:0003785 (Decreased CSF homovanillic acid concentration)\n", + " \n", + " \n", + " Visual acuity light perception without projection\n", + " definition of HP:0030552 (Visual acuity light perception without projection)\n", + " \n", + " \n", + " Abnormal speech rhythm\n", + " definition of HP:5200012 (Abnormal speech rhythm)\n", + " \n", + " \n", + " Speech with persistent abnormal rhythm or pattern for the context and cultural situation. This may occur constantly throughout conversations with the person or may occur in periodic bursts lasting several minutes to hours.\n", + " definition of HP:5200012 (Abnormal speech rhythm)\n", + " \n", + " \n", + " Decreased circulating total IgM\n", + " definition of HP:0002850 (Decreased circulating total IgM)\n", + " \n", + " \n", + " An abnormally decreased level of immunoglobulin M (IgM) in blood.\n", + " definition of HP:0002850 (Decreased circulating total IgM)\n", + " \n", + " \n", + " #Decreased IgM #Decreased IgM level #IgM deficiency #Reduced IgM levels\n", + " definition of HP:0002850 (Decreased circulating total IgM)\n", + " \n", + " \n", + " Decreased circulating inhibin B concentration\n", + " definition of HP:0031100 (Decreased circulating inhibin B concentration)\n", + " \n", + " \n", + " The concentration of inhibin B in the blood circulation is below the lower limit of normal.\n", + " definition of HP:0031100 (Decreased circulating inhibin B concentration)\n", + " \n", + " \n", + " #277000\n", + " definition of HP:0031100 (Decreased circulating inhibin B concentration)\n", + " \n", + " \n", + " Multiple mitochondrial DNA deletions\n", + " definition of HP:0003689 (Multiple mitochondrial DNA deletions)\n", + " \n", + " \n", + " The presence of multiple deletions of mitochondrial DNA (mtDNA).\n", + " definition of HP:0003689 (Multiple mitochondrial DNA deletions)\n", + " \n", + " \n", + " #Multiple mtDNA deletions\n", + " definition of HP:0003689 (Multiple mitochondrial DNA deletions)\n", + " \n", + " \n", + " Plant product allergy\n", + " definition of HP:0410338 (Plant product allergy)\n", + " \n", + " \n", + " Hypersensitivity in form of an adverse immune reaction against plant products.\n", + " definition of HP:0410338 (Plant product allergy)\n", + " \n", + " \n", + " #Allergy to plant products #IgE-mediated plant product allergy #Immunoglobulin E-mediated plant product allergy #Plant product allergy\n", + " definition of HP:0410338 (Plant product allergy)\n", + " \n", + " \n", + " Focal impaired awareness perseverative automatism seizure\n", + " definition of HP:0032922 (Focal impaired awareness perseverative automatism seizure)\n", + " \n", + " \n", + " A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by inappropriate continuation of pre-seizure movement or behavior at onset.\n", + " definition of HP:0032922 (Focal impaired awareness perseverative automatism seizure)\n", + " \n", + " \n", + " Renal tubular epithelial cell cytoplasmic vacuolization\n", + " definition of HP:0032596 (Renal tubular epithelial cell cytoplasmic vacuolization)\n", + " \n", + " \n", + " Tubular cross section with intracytoplasmic vacuoles in at least one tubular epithelial cell. This feature is classified as isometric when vacuoles are round and similar in size and coarse when vacuoles were not round in shape or varied in size.\n", + " definition of HP:0032596 (Renal tubular epithelial cell cytoplasmic vacuolization)\n", + " \n", + " \n", + " Flared humeral metaphysis\n", + " definition of HP:0003911 (Flared humeral metaphysis)\n", + " \n", + " \n", + " Flaring (increase of width with a splayed appearance) of the humeral metaphysis.\n", + " definition of HP:0003911 (Flared humeral metaphysis)\n", + " \n", + " \n", + " #Flared wide portion of long bone of upper arm #Wide/broad humeral metaphysis\n", + " definition of HP:0003911 (Flared humeral metaphysis)\n", + " \n", + " \n", + " EEG with photoparoxysmal response grade IV\n", + " definition of HP:0011214 (EEG with photoparoxysmal response grade IV)\n", + " \n", + " \n", + " Occurrence of generalized epileptiform discharges during photic stimulation.\n", + " definition of HP:0011214 (EEG with photoparoxysmal response grade IV)\n", + " \n", + " \n", + " Muscular edema\n", + " definition of HP:0100748 (Muscular edema)\n", + " \n", + " \n", + " #Muscular oedema\n", + " definition of HP:0100748 (Muscular edema)\n", + " \n", + " \n", + " Abnormal static perimetry test\n", + " definition of HP:0030592 (Abnormal static perimetry test)\n", + " \n", + " \n", + " Persistent fever\n", + " definition of HP:0033399 (Persistent fever)\n", + " \n", + " \n", + " Fever that persists longer than expected for an acute infectious disease. No precise threshold exists, and the clinical interpretation of fever is context-dependent, but as a rule of thumb, this term refers to fever that persists longer than 2-3 weeks.\n", + " definition of HP:0033399 (Persistent fever)\n", + " \n", + " \n", + " Anomalous origin of left coronary artery from the pulmonary artery\n", + " definition of HP:0011638 (Anomalous origin of left coronary artery from the pulmonary artery)\n", + " \n", + " \n", + " Left main coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the left cusp of the aortic valve.\n", + " definition of HP:0011638 (Anomalous origin of left coronary artery from the pulmonary artery)\n", + " \n", + " \n", + " #ALCAPA #Anomalous left coronary artery from the pulmonary artery #Bland-Garland-White syndrome\n", + " definition of HP:0011638 (Anomalous origin of left coronary artery from the pulmonary artery)\n", + " \n", + " \n", + " Anti-Y-box protein-1 antibody positivity\n", + " definition of HP:0034108 (Anti-Y-box protein-1 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Y-box protein-1.\n", + " definition of HP:0034108 (Anti-Y-box protein-1 antibody positivity)\n", + " \n", + " \n", + " #Anti-YB 1 antibody positivity\n", + " definition of HP:0034108 (Anti-Y-box protein-1 antibody positivity)\n", + " \n", + " \n", + " Tongue fasciculations\n", + " definition of HP:0001308 (Tongue fasciculations)\n", + " \n", + " \n", + " Fasciculations or fibrillation affecting the tongue muscle.\n", + " definition of HP:0001308 (Tongue fasciculations)\n", + " \n", + " \n", + " #Lingual fasciculations #Lingual fibrillations #Lingual twitching #Tongue fasciculation #Tongue fasciculations/fibrillations #Tongue twitching #Twitching of the tongue\n", + " definition of HP:0001308 (Tongue fasciculations)\n", + " \n", + " \n", + " Subfoveal choroidal neovascularization\n", + " definition of HP:0031241 (Subfoveal choroidal neovascularization)\n", + " \n", + " \n", + " A type of choroidal neovascularization in which the area of neovascularization overlaps with the center of the fovea.\n", + " definition of HP:0031241 (Subfoveal choroidal neovascularization)\n", + " \n", + " \n", + " Dilatation of the cerebral artery\n", + " definition of HP:0004944 (Dilatation of the cerebral artery)\n", + " \n", + " \n", + " The presence of a localized dilatation or ballooning of a cerebral artery.\n", + " definition of HP:0004944 (Dilatation of the cerebral artery)\n", + " \n", + " \n", + " Malabsorption of Vitamin B12\n", + " definition of HP:0200118 (Malabsorption of Vitamin B12)\n", + " \n", + " \n", + " Amplification of emotional expression\n", + " definition of HP:5200322 (Amplification of emotional expression)\n", + " \n", + " \n", + " An increase in the tendency of a person to express emotions compared to that person's previous norm.\n", + " definition of HP:5200322 (Amplification of emotional expression)\n", + " \n", + " \n", + " #Increase in emotional expression #Increased emotional display\n", + " definition of HP:5200322 (Amplification of emotional expression)\n", + " \n", + " \n", + " Abnormal morphology of left ventricular trabeculae\n", + " definition of HP:0031192 (Abnormal morphology of left ventricular trabeculae)\n", + " \n", + " \n", + " Any structural anomaly of the muscular columns which project from the inner surface of the left ventricle of the heart (cardiac trabeculae, trabeculae carneae).\n", + " definition of HP:0031192 (Abnormal morphology of left ventricular trabeculae)\n", + " \n", + " \n", + " Abnormal peripheral myelination\n", + " definition of HP:0003130 (Abnormal peripheral myelination)\n", + " \n", + " \n", + " An abnormality of the myelination of motor and sensory peripheral nerves. These are axons for motor nerves and dendrites for sensory nerves in the strict anatomic sense.\n", + " definition of HP:0003130 (Abnormal peripheral myelination)\n", + " \n", + " \n", + " Squamous cell carcinoma of the tongue\n", + " definition of HP:0030413 (Squamous cell carcinoma of the tongue)\n", + " \n", + " \n", + " A carcinoma derived from a squamous epithelial cell of the tongue.\n", + " definition of HP:0030413 (Squamous cell carcinoma of the tongue)\n", + " \n", + " \n", + " Glomerular subepithelial immune-complex deposits\n", + " definition of HP:0033601 (Glomerular subepithelial immune-complex deposits)\n", + " \n", + " \n", + " A type of glomerular subepithelial deposit characterized by finely granular material deposited between the outer (epithelial) aspect of the glomerular basement membrane (GBM) and the visceral epithelial cell, with varying degrees of incorporation into the GBM and corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry. This feature is associated with a prominent GBM reflecting an diffuse and relatively uniform increase in thickness (subjective estimate).\n", + " definition of HP:0033601 (Glomerular subepithelial immune-complex deposits)\n", + " \n", + " \n", + " Nipple localization\n", + " definition of HP:0040402 (Nipple localization)\n", + " \n", + " \n", + " Applies to a sign or symptom that is distributed around the nipples or located in the nipples.\n", + " definition of HP:0040402 (Nipple localization)\n", + " \n", + " \n", + " Finger swelling\n", + " definition of HP:0025131 (Finger swelling)\n", + " \n", + " \n", + " Enlargement of the soft tissues of one or more fingers.\n", + " definition of HP:0025131 (Finger swelling)\n", + " \n", + " \n", + " #Swelling of fingers #Swollen finger #Swollen fingers\n", + " definition of HP:0025131 (Finger swelling)\n", + " \n", + " \n", + " Partial functional complement factor D deficiency\n", + " definition of HP:0008338 (Partial functional complement factor D deficiency)\n", + " \n", + " \n", + " A partial reduction in level of the complement component Factor D in circulation.\n", + " definition of HP:0008338 (Partial functional complement factor D deficiency)\n", + " \n", + " \n", + " #Partial functional adipsin deficiency #Partial functional factor d deficiency\n", + " definition of HP:0008338 (Partial functional complement factor D deficiency)\n", + " \n", + " \n", + " Hyperisoleucinemia\n", + " definition of HP:0010913 (Hyperisoleucinemia)\n", + " \n", + " \n", + " An increased concentration of isoleucine in the blood.\n", + " definition of HP:0010913 (Hyperisoleucinemia)\n", + " \n", + " \n", + " #High blood isoleucine concentration\n", + " definition of HP:0010913 (Hyperisoleucinemia)\n", + " \n", + " \n", + " Acholic stools\n", + " definition of HP:0011985 (Acholic stools)\n", + " \n", + " \n", + " Clay colored stools lacking bile pigment.\n", + " definition of HP:0011985 (Acholic stools)\n", + " \n", + " \n", + " #Acholia #Clay colored stools #Clay coloured stools #Discolored, acholic stools\n", + " definition of HP:0011985 (Acholic stools)\n", + " \n", + " \n", + " Epsilon wave\n", + " definition of HP:0034304 (Epsilon wave)\n", + " \n", + " \n", + " An electric signal of depolarization observed between the end of the QRS complex and the beginning of the T wave.\n", + " definition of HP:0034304 (Epsilon wave)\n", + " \n", + " \n", + " Impaired oxidative burst\n", + " definition of HP:0003203 (Impaired oxidative burst)\n", + " \n", + " \n", + " In the NBT test, neutrophils change the colorless compound NBT into a compound with a deep blue color. If this test is negative (i.e., no blue color is produced), then this indicates a defect in superoxide-generating NADPH oxidase activity with inability to efficiently kill phagocytized bacteria.\n", + " definition of HP:0003203 (Impaired oxidative burst)\n", + " \n", + " \n", + " #Negative NBT reduction test #Negative nitroblue tetrazolium reduction test\n", + " definition of HP:0003203 (Impaired oxidative burst)\n", + " \n", + " \n", + " Triggered by heat\n", + " definition of HP:0025214 (Triggered by heat)\n", + " \n", + " \n", + " Applies to a sign or symptom that is provoked or brought about by exposure to heat.\n", + " definition of HP:0025214 (Triggered by heat)\n", + " \n", + " \n", + " #Heat triggered symptoms #Triggered by heat\n", + " definition of HP:0025214 (Triggered by heat)\n", + " \n", + " \n", + " Absent epiphysis of the distal phalanx of the thumb\n", + " definition of HP:0009675 (Absent epiphysis of the distal phalanx of the thumb)\n", + " \n", + " \n", + " Absence of the epiphysis located at the proximal end of the distal phalanx of the thumb.\n", + " definition of HP:0009675 (Absent epiphysis of the distal phalanx of the thumb)\n", + " \n", + " \n", + " #Absent end part of thumb outermost long bone\n", + " definition of HP:0009675 (Absent epiphysis of the distal phalanx of the thumb)\n", + " \n", + " \n", + " Focal clonic seizure\n", + " definition of HP:0002266 (Focal clonic seizure)\n", + " \n", + " \n", + " A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.\n", + " definition of HP:0002266 (Focal clonic seizure)\n", + " \n", + " \n", + " #Focal clonic seizures #Localised clonic seizure #Localized clonic seizure #Partial clonic seizure #Segmental clonic seizure\n", + " definition of HP:0002266 (Focal clonic seizure)\n", + " \n", + " \n", + " Elevated circulating tetradecanoylcarnitine concentration\n", + " definition of HP:0033465 (Elevated circulating tetradecanoylcarnitine concentration)\n", + " \n", + " \n", + " Elevated circulating tetradecanoyl concentration.\n", + " definition of HP:0033465 (Elevated circulating tetradecanoylcarnitine concentration)\n", + " \n", + " \n", + " #Elevated circulating C14 carnitine concentration #Elevated circulating myristoylcarnitine concentration\n", + " definition of HP:0033465 (Elevated circulating tetradecanoylcarnitine concentration)\n", + " \n", + " \n", + " Abnormal morphology of the conjunctival vasculature\n", + " definition of HP:0008054 (Abnormal morphology of the conjunctival vasculature)\n", + " \n", + " \n", + " Any abnormality of the blood vessels of the conjunctiva.\n", + " definition of HP:0008054 (Abnormal morphology of the conjunctival vasculature)\n", + " \n", + " \n", + " #Abnormal morphology of the conjunctiva vasculature #Abnormal vasculature of the conjunctiva morphology #Abnormality of the vasculature of the conjunctiva\n", + " definition of HP:0008054 (Abnormal morphology of the conjunctival vasculature)\n", + " \n", + " \n", + " Medication history\n", + " definition of HP:4000112 (Medication history)\n", + " \n", + " \n", + " Information about current or past medications taken by an individual.\n", + " definition of HP:4000112 (Medication history)\n", + " \n", + " \n", + " Decreased Arden ratio of electrooculogram\n", + " definition of HP:0008179 (Decreased Arden ratio of electrooculogram)\n", + " \n", + " \n", + " An abnormal reduction in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record.\n", + " definition of HP:0008179 (Decreased Arden ratio of electrooculogram)\n", + " \n", + " \n", + " #Decreased Arden ratio of EOG\n", + " definition of HP:0008179 (Decreased Arden ratio of electrooculogram)\n", + " \n", + " \n", + " Elevated bronchoalveolar lavage fluid neutrophil proportion\n", + " definition of HP:0032977 (Elevated bronchoalveolar lavage fluid neutrophil proportion)\n", + " \n", + " \n", + " Usually, Neutrophils make up less than 3% of all cells found in the broncho-alveloar lavage fluid. In children, standard value of neutrophils is higher depending on their age (children under the age of 5 show a maximum value of 10%). This elevated cell proportion is a sign for acute and chronic infections (HP:0012387, HP:0006538) and can be associated to specific diseases.\n", + " definition of HP:0032977 (Elevated bronchoalveolar lavage fluid neutrophil proportion)\n", + " \n", + " \n", + " #Elevated level of neutrophils in broncho-alveolar lavage fluid\n", + " definition of HP:0032977 (Elevated bronchoalveolar lavage fluid neutrophil proportion)\n", + " \n", + " \n", + " Short corpus callosum\n", + " definition of HP:0200012 (Short corpus callosum)\n", + " \n", + " \n", + " Abnormal neuron branching\n", + " definition of HP:0500032 (Abnormal neuron branching)\n", + " \n", + " \n", + " Abnormality of the structure and branching of the dendrites of a neuron.\n", + " definition of HP:0500032 (Abnormal neuron branching)\n", + " \n", + " \n", + " #Aberrant neuronal branching #Abnormal neuronal branching\n", + " definition of HP:0500032 (Abnormal neuron branching)\n", + " \n", + " \n", + " Pontine tegmental cap\n", + " definition of HP:0030975 (Pontine tegmental cap)\n", + " \n", + " \n", + " An abnormal curved or vaulted (capped) structure covering the middle third of the dorsal pontine tegmentum and projecting into the fourth ventricle.\n", + " definition of HP:0030975 (Pontine tegmental cap)\n", + " \n", + " \n", + " #Vaulted pontine tegmentum\n", + " definition of HP:0030975 (Pontine tegmental cap)\n", + " \n", + " \n", + " Triangular shaped proximal phalanx of the 5th finger\n", + " definition of HP:0009233 (Triangular shaped proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " Triangular shaped proximal phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.\n", + " definition of HP:0009233 (Triangular shaped proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " #Triangular shaped innermost little finger bone #Triangular shaped innermost pinkie finger bone #Triangular shaped innermost pinky finger bone\n", + " definition of HP:0009233 (Triangular shaped proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " Vaginal mass\n", + " definition of HP:6000105 (Vaginal mass)\n", + " \n", + " \n", + " A swelling or enlargement localized to the vagina. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.\n", + " definition of HP:6000105 (Vaginal mass)\n", + " \n", + " \n", + " Nasal dermoid cyst\n", + " definition of HP:0430145 (Nasal dermoid cyst)\n", + " \n", + " \n", + " An ectodermal inclusion cyst containing skin and skin appendages; sebaceous glands, hair follicles, and occasionally sweat glands.\n", + " definition of HP:0430145 (Nasal dermoid cyst)\n", + " \n", + " \n", + " Absent epiphyses of the 5th toe\n", + " definition of HP:0100077 (Absent epiphyses of the 5th toe)\n", + " \n", + " \n", + " #Absent end part of the little toe bone #Absent end part of the pinkie toe bone #Absent end part of the pinky toe bone\n", + " definition of HP:0100077 (Absent epiphyses of the 5th toe)\n", + " \n", + " \n", + " Enchondroma\n", + " definition of HP:0030038 (Enchondroma)\n", + " \n", + " \n", + " A solitary, benign, intramedullary cartilage tumor that is often found in the short tubular bones of the hands and feet, distal femur, and proximal humerus.\n", + " definition of HP:0030038 (Enchondroma)\n", + " \n", + " \n", + " Single coronary artery origin\n", + " definition of HP:0011640 (Single coronary artery origin)\n", + " \n", + " \n", + " The presence of a single coronary artery ostium from which both coronary arteries arise.\n", + " definition of HP:0011640 (Single coronary artery origin)\n", + " \n", + " \n", + " Confluent hyperintensity of cerebral white matter on MRI\n", + " definition of HP:0040330 (Confluent hyperintensity of cerebral white matter on MRI)\n", + " \n", + " \n", + " Areas of brighter than expected MRI signal in the white matter of the brain whereby individual patches run together.\n", + " definition of HP:0040330 (Confluent hyperintensity of cerebral white matter on MRI)\n", + " \n", + " \n", + " Hypoplasia of the semicircular canal\n", + " definition of HP:0011382 (Hypoplasia of the semicircular canal)\n", + " \n", + " \n", + " Underdevelopment of the semicircular canal.\n", + " definition of HP:0011382 (Hypoplasia of the semicircular canal)\n", + " \n", + " \n", + " #Small semicircular canal\n", + " definition of HP:0011382 (Hypoplasia of the semicircular canal)\n", + " \n", + " \n", + " Elevated urinary cytidine\n", + " definition of HP:0032573 (Elevated urinary cytidine)\n", + " \n", + " \n", + " Increased levels of urinary cytidine, a pyrimidine nucleoside in which cytosine is attached to ribofuranose via a beta-N1 glycosidic bond.\n", + " definition of HP:0032573 (Elevated urinary cytidine)\n", + " \n", + " \n", + " T2 hypointense basal ganglia\n", + " definition of HP:0012753 (T2 hypointense basal ganglia)\n", + " \n", + " \n", + " A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a diffuse hypointensity affecting all of the basal ganglia.\n", + " definition of HP:0012753 (T2 hypointense basal ganglia)\n", + " \n", + " \n", + " Incomplete partition of the cochlea type II\n", + " definition of HP:0000376 (Incomplete partition of the cochlea type II)\n", + " \n", + " \n", + " With incomplete partition II, the cochlea consists of 1.5 turns; the apical and middle cochlea turns are undifferentiated and form a cystic apex. The vestibule is normal while the vestibular aqueduct is always enlarged. Developmental arrest occurs at the seventh week of gestation.\n", + " definition of HP:0000376 (Incomplete partition of the cochlea type II)\n", + " \n", + " \n", + " Decreased level of D-mannose in urine\n", + " definition of HP:0410060 (Decreased level of D-mannose in urine)\n", + " \n", + " \n", + " A decrease in the level of D-mannose in the urine.\n", + " definition of HP:0410060 (Decreased level of D-mannose in urine)\n", + " \n", + " \n", + " Retinal crystals\n", + " definition of HP:0030507 (Retinal crystals)\n", + " \n", + " \n", + " Crystalline deposits in the retina.\n", + " definition of HP:0030507 (Retinal crystals)\n", + " \n", + " \n", + " Eosinophilic ascites\n", + " definition of HP:0031780 (Eosinophilic ascites)\n", + " \n", + " \n", + " A type of ascites in which there are large numbers of eosinophils in the ascitis fluid.\n", + " definition of HP:0031780 (Eosinophilic ascites)\n", + " \n", + " \n", + " Giant somatosensory evoked potentials\n", + " definition of HP:0001312 (Giant somatosensory evoked potentials)\n", + " \n", + " \n", + " An abnormal enlargement (i.e. increase in measured voltage) of somatosensory evoked potentials.\n", + " definition of HP:0001312 (Giant somatosensory evoked potentials)\n", + " \n", + " \n", + " #Giant SEPS\n", + " definition of HP:0001312 (Giant somatosensory evoked potentials)\n", + " \n", + " \n", + " Thoracolumbar scoliosis\n", + " definition of HP:0002944 (Thoracolumbar scoliosis)\n", + " \n", + " \n", + " #Scoliosis, thoracolumbar\n", + " definition of HP:0002944 (Thoracolumbar scoliosis)\n", + " \n", + " \n", + " Congenital portosystemic venous shunt\n", + " definition of HP:0012022 (Congenital portosystemic venous shunt)\n", + " \n", + " \n", + " A congenital defect of the vasculature such that there is a shunt (by-pass) of blood directly from the portal vein to the vena cava (i.e., the blood from the portal vein is not filtered through the liver).\n", + " definition of HP:0012022 (Congenital portosystemic venous shunt)\n", + " \n", + " \n", + " Absent anterior chamber of the eye\n", + " definition of HP:0008037 (Absent anterior chamber of the eye)\n", + " \n", + " \n", + " Absence of the anterior chamber of the eye owing to a developmental defect.\n", + " definition of HP:0008037 (Absent anterior chamber of the eye)\n", + " \n", + " \n", + " Exercise-triggered malignant hyperthermia\n", + " definition of HP:0034732 (Exercise-triggered malignant hyperthermia)\n", + " \n", + " \n", + " Malignant hyperthermia that is characterized by exercise-induced life-threatening hyperthermia with a body temperature over 40 degrees C and signs of encephalopathy ranging from confusion to convulsions or coma. Incidence increases with rising ambient temperature and relative humidity. Manifestations may include rhabdomyolysis (presenting with myalgia, muscle weakness, and myoglobinuria), tachycardia, and in severe cases multiorgan failure.\n", + " definition of HP:0034732 (Exercise-triggered malignant hyperthermia)\n", + " \n", + " \n", + " #Exertional heat stroke #Malignant hyperthermia due to exercise\n", + " definition of HP:0034732 (Exercise-triggered malignant hyperthermia)\n", + " \n", + " \n", + " Hypoglycinemia\n", + " definition of HP:0012277 (Hypoglycinemia)\n", + " \n", + " \n", + " An abnormally reduced concentration of glycine in the blood.\n", + " definition of HP:0012277 (Hypoglycinemia)\n", + " \n", + " \n", + " #Low blood glycine levels\n", + " definition of HP:0012277 (Hypoglycinemia)\n", + " \n", + " \n", + " Chronic furunculosis\n", + " definition of HP:0011132 (Chronic furunculosis)\n", + " \n", + " \n", + " A furuncle (boil) is a skin infection involving an entire hair follicle and nearby skin tissue. Chronic furunculosis refers to recurrent episodes of furuncles, often caused by recurrent staphylococcus infection.\n", + " definition of HP:0011132 (Chronic furunculosis)\n", + " \n", + " \n", + " Absence of acoustic reflex\n", + " definition of HP:0008529 (Absence of acoustic reflex)\n", + " \n", + " \n", + " Absence of the acoustic reflex, an involuntary contraction of the stapedius muscle that occurs in response to high-intensity sound stimuli.\n", + " definition of HP:0008529 (Absence of acoustic reflex)\n", + " \n", + " \n", + " #Absence of acoustic middle ear muscle reflexes #Absent middle ear reflexes #Absent stapedius reflexes\n", + " definition of HP:0008529 (Absence of acoustic reflex)\n", + " \n", + " \n", + " Benign genitourinary tract neoplasm\n", + " definition of HP:0006778 (Benign genitourinary tract neoplasm)\n", + " \n", + " \n", + " A non-malignant neoplasm of the genitourinary system.\n", + " definition of HP:0006778 (Benign genitourinary tract neoplasm)\n", + " \n", + " \n", + " #Benign genitourinary tract tumor #Benign genitourinary tract tumour #Benign GU tract neoplasm\n", + " definition of HP:0006778 (Benign genitourinary tract neoplasm)\n", + " \n", + " \n", + " Hyperalbuminemia\n", + " definition of HP:0012117 (Hyperalbuminemia)\n", + " \n", + " \n", + " Elevation in the concentration of albumin in the blood.\n", + " definition of HP:0012117 (Hyperalbuminemia)\n", + " \n", + " \n", + " #High blood albumin levels #Hyperalbuminaemia\n", + " definition of HP:0012117 (Hyperalbuminemia)\n", + " \n", + " \n", + " Oral bleeding\n", + " definition of HP:0040184 (Oral bleeding)\n", + " \n", + " \n", + " #Oral bleeding #Oral haemorrhage #Oral hemorrhage\n", + " definition of HP:0040184 (Oral bleeding)\n", + " \n", + " \n", + " Spasticity of facial muscles\n", + " definition of HP:0002491 (Spasticity of facial muscles)\n", + " \n", + " \n", + " Spasticity of one or more muscles innervated by the facial nerve.\n", + " definition of HP:0002491 (Spasticity of facial muscles)\n", + " \n", + " \n", + " #Spasticity of the facial muscles\n", + " definition of HP:0002491 (Spasticity of facial muscles)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the phalanges of the 2nd toe\n", + " definition of HP:0010347 (Aplasia/Hypoplasia of the phalanges of the 2nd toe)\n", + " \n", + " \n", + " #Absent/small bones of 2nd toe #Absent/underdeveloped bones of 2nd toe\n", + " definition of HP:0010347 (Aplasia/Hypoplasia of the phalanges of the 2nd toe)\n", + " \n", + " \n", + " Abnormal digestive system morphology\n", + " definition of HP:0025033 (Abnormal digestive system morphology)\n", + " \n", + " \n", + " A structural anomaly of the digestive system.\n", + " definition of HP:0025033 (Abnormal digestive system morphology)\n", + " \n", + " \n", + " #Abnormality of digestive system morphology\n", + " definition of HP:0025033 (Abnormal digestive system morphology)\n", + " \n", + " \n", + " Forward facing earlobe\n", + " definition of HP:0011263 (Forward facing earlobe)\n", + " \n", + " \n", + " Positioning of the anterior surface of the ear lobe in a more coronal plane than the remainder of the ear.\n", + " definition of HP:0011263 (Forward facing earlobe)\n", + " \n", + " \n", + " #Forward facing earlobe #Lobe, forward facing\n", + " definition of HP:0011263 (Forward facing earlobe)\n", + " \n", + " \n", + " Triangular epiphyses of the distal phalanges of the hand\n", + " definition of HP:0010256 (Triangular epiphyses of the distal phalanges of the hand)\n", + " \n", + " \n", + " #Triangular end part of the outermost hand bones\n", + " definition of HP:0010256 (Triangular epiphyses of the distal phalanges of the hand)\n", + " \n", + " \n", + " Acromelia\n", + " definition of HP:0010884 (Acromelia)\n", + " \n", + " \n", + " Shortening of the extremities affecting primarily the distal parts of the limbs (hands and feet) in relation to the other segments of the limbs.\n", + " definition of HP:0010884 (Acromelia)\n", + " \n", + " \n", + " Perilymphatic\n", + " definition of HP:0033819 (Perilymphatic)\n", + " \n", + " \n", + " Applies to an abnormality whose distribution and appearance are located at or near lymphatic structures (node or vessel).\n", + " definition of HP:0033819 (Perilymphatic)\n", + " \n", + " \n", + " Abdominal symptom\n", + " definition of HP:0011458 (Abdominal symptom)\n", + " \n", + " \n", + " A subjective manifestation of disease localized to the abdomen.\n", + " definition of HP:0011458 (Abdominal symptom)\n", + " \n", + " \n", + " Abnormal zona pellucida morphology\n", + " definition of HP:0020156 (Abnormal zona pellucida morphology)\n", + " \n", + " \n", + " Abnormal structure of the oocyte extracellular matrix region known as the zona pellucida.\n", + " definition of HP:0020156 (Abnormal zona pellucida morphology)\n", + " \n", + " \n", + " Mild expressive language delay\n", + " definition of HP:0011346 (Mild expressive language delay)\n", + " \n", + " \n", + " A mild delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.\n", + " definition of HP:0011346 (Mild expressive language delay)\n", + " \n", + " \n", + " Abnormality of mouth shape\n", + " definition of HP:0011338 (Abnormality of mouth shape)\n", + " \n", + " \n", + " An abnormality of the outline, configuration, or contour of the mouth.\n", + " definition of HP:0011338 (Abnormality of mouth shape)\n", + " \n", + " \n", + " #Abnormality of mouth shape #Anomaly of mouth shape\n", + " definition of HP:0011338 (Abnormality of mouth shape)\n", + " \n", + " \n", + " Synostosis involving bones of the lower limbs\n", + " definition of HP:0009138 (Synostosis involving bones of the lower limbs)\n", + " \n", + " \n", + " An abnormal union between bones or parts of bones lower limbs.\n", + " definition of HP:0009138 (Synostosis involving bones of the lower limbs)\n", + " \n", + " \n", + " #Fusion involving the bones of the lower limbs\n", + " definition of HP:0009138 (Synostosis involving bones of the lower limbs)\n", + " \n", + " \n", + " Acute bronchitis\n", + " definition of HP:0012388 (Acute bronchitis)\n", + " \n", + " \n", + " Inflammation of the large airways of the lung with rapid onset and short course usually associated with cough, mucus production, shortness of breath, wheezing, and chest tightness.\n", + " definition of HP:0012388 (Acute bronchitis)\n", + " \n", + " \n", + " Abnormality of the gingiva\n", + " definition of HP:0000168 (Abnormality of the gingiva)\n", + " \n", + " \n", + " Any abnormality of the gingiva (also known as gums).\n", + " definition of HP:0000168 (Abnormality of the gingiva)\n", + " \n", + " \n", + " #Abnormality of the gums #Gingival abnormality\n", + " definition of HP:0000168 (Abnormality of the gingiva)\n", + " \n", + " \n", + " Anterior vertebral fusion\n", + " definition of HP:0004557 (Anterior vertebral fusion)\n", + " \n", + " \n", + " Perisylvian predominant thick cortex pachygyria\n", + " definition of HP:0020190 (Perisylvian predominant thick cortex pachygyria)\n", + " \n", + " \n", + " Pachygyria with cortical thickness greater than 10 mm and a perisylvian predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Perisylvian predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria.\n", + " definition of HP:0020190 (Perisylvian predominant thick cortex pachygyria)\n", + " \n", + " \n", + " #Pachygyria with cortical thickness > 10 mm perisylvian predominant\n", + " definition of HP:0020190 (Perisylvian predominant thick cortex pachygyria)\n", + " \n", + " \n", + " Abnormality of the round window\n", + " definition of HP:0040099 (Abnormality of the round window)\n", + " \n", + " \n", + " Type A4 brachydactyly\n", + " definition of HP:0031043 (Type A4 brachydactyly)\n", + " \n", + " \n", + " A type of brachydactyly characterized by brachymesophalangy affecting mainly the 2nd and 5th digits.\n", + " definition of HP:0031043 (Type A4 brachydactyly)\n", + " \n", + " \n", + " Neonatal hypoproteinemia\n", + " definition of HP:0008360 (Neonatal hypoproteinemia)\n", + " \n", + " \n", + " A neonatal decreased concentration of proteins in the blood.\n", + " definition of HP:0008360 (Neonatal hypoproteinemia)\n", + " \n", + " \n", + " Irregular epiphysis of the distal phalanx of the 4th finger\n", + " definition of HP:0009255 (Irregular epiphysis of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " Irregular radiographic opacity of the epiphysis of the distal phalanx of the 4th finger.\n", + " definition of HP:0009255 (Irregular epiphysis of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " #Irregular end part of the outermost bone of the ring finger\n", + " definition of HP:0009255 (Irregular epiphysis of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " Triangular epiphysis of the distal phalanx of the 2nd finger\n", + " definition of HP:0009512 (Triangular epiphysis of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " A triangular appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.\n", + " definition of HP:0009512 (Triangular epiphysis of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Triangular end part of the outermost bone of the index finger\n", + " definition of HP:0009512 (Triangular epiphysis of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Biparietal narrowing\n", + " definition of HP:0004422 (Biparietal narrowing)\n", + " \n", + " \n", + " A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull).\n", + " definition of HP:0004422 (Biparietal narrowing)\n", + " \n", + " \n", + " Malar prominence\n", + " definition of HP:0010620 (Malar prominence)\n", + " \n", + " \n", + " Prominence of the malar process of the maxilla and infraorbital area appreciated in profile and from in front of the face.\n", + " definition of HP:0010620 (Malar prominence)\n", + " \n", + " \n", + " #Malar excess #Malar hyperplasia #Prominent malar region\n", + " definition of HP:0010620 (Malar prominence)\n", + " \n", + " \n", + " Chromosomal breakage induced by ionizing radiation\n", + " definition of HP:0010997 (Chromosomal breakage induced by ionizing radiation)\n", + " \n", + " \n", + " Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with ionizing radiation.\n", + " definition of HP:0010997 (Chromosomal breakage induced by ionizing radiation)\n", + " \n", + " \n", + " #Chromosomal breakage induced by ionising radiation #Increased cellular radiosensitivity #Radiation-induced chromosome instability\n", + " definition of HP:0010997 (Chromosomal breakage induced by ionizing radiation)\n", + " \n", + " \n", + " Anorectal stricture\n", + " definition of HP:0033254 (Anorectal stricture)\n", + " \n", + " \n", + " Narrowing of the anorectum associated with inflammation or scar tissue.\n", + " definition of HP:0033254 (Anorectal stricture)\n", + " \n", + " \n", + " #Stricture of the anorectum\n", + " definition of HP:0033254 (Anorectal stricture)\n", + " \n", + " \n", + " Axial\n", + " definition of HP:0025287 (Axial)\n", + " \n", + " \n", + " Applies to an abnormality that is situated in the central part of the body, in the head and trunk as distinguished from the limbs.\n", + " definition of HP:0025287 (Axial)\n", + " \n", + " \n", + " Vasovagal syncope\n", + " definition of HP:0012668 (Vasovagal syncope)\n", + " \n", + " \n", + " A vasovagal episode or vasovagal syncope is the most common form of reflex syncope. Reflex syncope is a general term used to describe types of syncope resulting from a failure in autoregulation of blood pressure, and ultimately, in cerebral perfusion pressure resulting in transient loss of consciousness. The mechanisms responsible for this are complex and involve both depression of cardiac output as well as a decrease in vascular tone.\n", + " definition of HP:0012668 (Vasovagal syncope)\n", + " \n", + " \n", + " #Neurocardiogenic syncope #Reflex syncope #Situational syncope #Vasovagal episode\n", + " definition of HP:0012668 (Vasovagal syncope)\n", + " \n", + " \n", + " Large fontanelles\n", + " definition of HP:0000239 (Large fontanelles)\n", + " \n", + " \n", + " In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms.\n", + " definition of HP:0000239 (Large fontanelles)\n", + " \n", + " \n", + " #Enlarged fontanelles #Large fontanel #Large fontanelle #Large fontanels #Persistent wide fontanel #Wide fontanelles\n", + " definition of HP:0000239 (Large fontanelles)\n", + " \n", + " \n", + " Elevated circulating 3-hydroxykynurenine concentration\n", + " definition of HP:6000776 (Elevated circulating 3-hydroxykynurenine concentration)\n", + " \n", + " \n", + " The concentration of 3-hydroxykynurenine in the blood circulation is above the upper limit of normal.\n", + " definition of HP:6000776 (Elevated circulating 3-hydroxykynurenine concentration)\n", + " \n", + " \n", + " Compensatory face turn to the left\n", + " definition of HP:0031708 (Compensatory face turn to the left)\n", + " \n", + " \n", + " A tendency to turn the face to the left to compensate for a limitation of eye movement.\n", + " definition of HP:0031708 (Compensatory face turn to the left)\n", + " \n", + " \n", + " Extrapulmonary lobar sequestration\n", + " definition of HP:0006544 (Extrapulmonary lobar sequestration)\n", + " \n", + " \n", + " A type of pulmonary sequestration that is completely enclosed in its own pleural sac, occurring above, within, or below the diaphragm, and without communication with the tracheobronchial tree.\n", + " definition of HP:0006544 (Extrapulmonary lobar sequestration)\n", + " \n", + " \n", + " #Extralobar sequestration #Extrapulmonary sequestrum\n", + " definition of HP:0006544 (Extrapulmonary lobar sequestration)\n", + " \n", + " \n", + " Abnormal coagulation factor V activity\n", + " definition of HP:0031899 (Abnormal coagulation factor V activity)\n", + " \n", + " \n", + " Any deviation from the activity of coagulation factor V.\n", + " definition of HP:0031899 (Abnormal coagulation factor V activity)\n", + " \n", + " \n", + " #Abnormal factor V activity\n", + " definition of HP:0031899 (Abnormal coagulation factor V activity)\n", + " \n", + " \n", + " Soft tissue sarcoma\n", + " definition of HP:0030448 (Soft tissue sarcoma)\n", + " \n", + " \n", + " A type of sarcoma (A connective tissue neoplasm formed by proliferation of mesodermal cells) that develops from soft tissues like fat, muscle, nerves, fibrous tissues, blood vessels, or deep skin tissues.\n", + " definition of HP:0030448 (Soft tissue sarcoma)\n", + " \n", + " \n", + " #Soft tissue sarcomas\n", + " definition of HP:0030448 (Soft tissue sarcoma)\n", + " \n", + " \n", + " Vascular skin abnormality\n", + " definition of HP:0011276 (Vascular skin abnormality)\n", + " \n", + " \n", + " #Skin vascular malformation\n", + " definition of HP:0011276 (Vascular skin abnormality)\n", + " \n", + " \n", + " Abnormal peripapillary microvascular network\n", + " definition of HP:6000771 (Abnormal peripapillary microvascular network)\n", + " \n", + " \n", + " The density of the deep peripapillary microvascular network (i.e., the number of blood vessels) is below the lower limit of normal. This finding is observable by optical coherence tomography angiography.\n", + " definition of HP:6000771 (Abnormal peripapillary microvascular network)\n", + " \n", + " \n", + " Abnormal mast cell morphology\n", + " definition of HP:0100494 (Abnormal mast cell morphology)\n", + " \n", + " \n", + " Any structural anomaly of mast cells, which are found in almost all tissues and contain numerous basophilic granules and are capable of releasing large amounts of histamine and heparin upon activation.\n", + " definition of HP:0100494 (Abnormal mast cell morphology)\n", + " \n", + " \n", + " #Abnormality of mast cells #Abnormality of mastocytes\n", + " definition of HP:0100494 (Abnormal mast cell morphology)\n", + " \n", + " \n", + " Short distal phalanx of the 5th toe\n", + " definition of HP:0100391 (Short distal phalanx of the 5th toe)\n", + " \n", + " \n", + " Developmental hypoplasia of the distal phalanx of little toe.\n", + " definition of HP:0100391 (Short distal phalanx of the 5th toe)\n", + " \n", + " \n", + " #Hypoplastic/small distal phalanx of the 5th toe #Short distal phalanx of the fifth toe #Short outermost bone of the little toe #Short outermost bone of the pinkie toe #Short outermost bone of the pinky toe\n", + " definition of HP:0100391 (Short distal phalanx of the 5th toe)\n", + " \n", + " \n", + " Pseudoepiphyses of the 5th toe\n", + " definition of HP:0100084 (Pseudoepiphyses of the 5th toe)\n", + " \n", + " \n", + " Arthritis\n", + " definition of HP:0001369 (Arthritis)\n", + " \n", + " \n", + " Inflammation of a joint.\n", + " definition of HP:0001369 (Arthritis)\n", + " \n", + " \n", + " #Arthritis #Joint inflammation\n", + " definition of HP:0001369 (Arthritis)\n", + " \n", + " \n", + " Transient hypogammaglobulinemia of infancy\n", + " definition of HP:0005432 (Transient hypogammaglobulinemia of infancy)\n", + " \n", + " \n", + " At birth, newborns are endowed with maternal antibodies. IgG production normally begins at the age of two months. A delay in recovery from this physiological hypogammaglobulinemia between the 3rd and the 6th month of life, and of recovery period between 18 and 36 months defines transient newborn hypogammaglobulinemia.\n", + " definition of HP:0005432 (Transient hypogammaglobulinemia of infancy)\n", + " \n", + " \n", + " Automatic atrial tachycardia\n", + " definition of HP:0011700 (Automatic atrial tachycardia)\n", + " \n", + " \n", + " Chronic supraventricular tachycardia predominantly seen in childhood.\n", + " definition of HP:0011700 (Automatic atrial tachycardia)\n", + " \n", + " \n", + " Prolonged N2 sleep\n", + " definition of HP:5200358 (Prolonged N2 sleep)\n", + " \n", + " \n", + " Increased duration of phase N2 of nonrapid eye movement (NREM) sleep.\n", + " definition of HP:5200358 (Prolonged N2 sleep)\n", + " \n", + " \n", + " Bladder diverticulum\n", + " definition of HP:0000015 (Bladder diverticulum)\n", + " \n", + " \n", + " Diverticulum (sac or pouch) in the wall of the urinary bladder.\n", + " definition of HP:0000015 (Bladder diverticulum)\n", + " \n", + " \n", + " #Bladder diverticula\n", + " definition of HP:0000015 (Bladder diverticulum)\n", + " \n", + " \n", + " Abnormality of the epiphysis of the proximal phalanx of the 3rd toe\n", + " definition of HP:0100093 (Abnormality of the epiphysis of the proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Abnormality of the end part of the innermost bone of the 3rd toe\n", + " definition of HP:0100093 (Abnormality of the epiphysis of the proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Congenital laryngeal stridor\n", + " definition of HP:0004886 (Congenital laryngeal stridor)\n", + " \n", + " \n", + " Elevated circulating phosphoethanolamine concentration\n", + " definition of HP:0033406 (Elevated circulating phosphoethanolamine concentration)\n", + " \n", + " \n", + " An increased concentration of o-phosphoethanolamine in the blood circulation.\n", + " definition of HP:0033406 (Elevated circulating phosphoethanolamine concentration)\n", + " \n", + " \n", + " #Elevated circulating o-phosphoethanolamine concentration\n", + " definition of HP:0033406 (Elevated circulating phosphoethanolamine concentration)\n", + " \n", + " \n", + " Reduced circulating lipoprotein(a) concentration\n", + " definition of HP:6000522 (Reduced circulating lipoprotein(a) concentration)\n", + " \n", + " \n", + " The concentration of lipoprotein(a) in the blood circulation is below the lower limit of normal. Lipoprotein(a), also known as apolipoprotein(A), is encoded by LPA (HGNC:6667).\n", + " definition of HP:6000522 (Reduced circulating lipoprotein(a) concentration)\n", + " \n", + " \n", + " Abnormal fallopian tube morphology\n", + " definition of HP:0011027 (Abnormal fallopian tube morphology)\n", + " \n", + " \n", + " An abnormality of the fallopian tube.\n", + " definition of HP:0011027 (Abnormal fallopian tube morphology)\n", + " \n", + " \n", + " #Abnormality of the fallopian tube\n", + " definition of HP:0011027 (Abnormal fallopian tube morphology)\n", + " \n", + " \n", + " Aplasia of the 3rd finger\n", + " definition of HP:0009460 (Aplasia of the 3rd finger)\n", + " \n", + " \n", + " Absent 3rd finger.\n", + " definition of HP:0009460 (Aplasia of the 3rd finger)\n", + " \n", + " \n", + " #Absent middle finger\n", + " definition of HP:0009460 (Aplasia of the 3rd finger)\n", + " \n", + " \n", + " Best corrected visual acuity 0.7 LogMAR\n", + " definition of HP:0030559 (Best corrected visual acuity 0.7 LogMAR)\n", + " \n", + " \n", + " Absent distal interphalangeal creases\n", + " definition of HP:0001032 (Absent distal interphalangeal creases)\n", + " \n", + " \n", + " Absence of the distal interphalangeal flexion creases of the fingers.\n", + " definition of HP:0001032 (Absent distal interphalangeal creases)\n", + " \n", + " \n", + " #Absence of skin creases over distal interphalangeal joints #Aplasia of the distal interphalangeal creases #Distal finger flexion creases absent\n", + " definition of HP:0001032 (Absent distal interphalangeal creases)\n", + " \n", + " \n", + " Abnormal vascular morphology\n", + " definition of HP:0025015 (Abnormal vascular morphology)\n", + " \n", + " \n", + " Distortion of the anterior part of the interhemispheric fissure\n", + " definition of HP:6000791 (Distortion of the anterior part of the interhemispheric fissure)\n", + " \n", + " \n", + " Change in the normal shape (displacement, asymmetry) of the anterior part of the interhemispheric fissure. This finding can be identified prenatally by sonography or magnetic resonance imaging.\n", + " definition of HP:6000791 (Distortion of the anterior part of the interhemispheric fissure)\n", + " \n", + " \n", + " Disseminated dermatophytosis\n", + " definition of HP:0032518 (Disseminated dermatophytosis)\n", + " \n", + " \n", + " A type of invasive dermatophyte infection characterized by vascular involvement and dissemination to other organs.\n", + " definition of HP:0032518 (Disseminated dermatophytosis)\n", + " \n", + " \n", + " Anti-H2A-H2B antibody positivity\n", + " definition of HP:0033593 (Anti-H2A-H2B antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies in the blood circulation that react against the H2A-H2B histone dimer.\n", + " definition of HP:0033593 (Anti-H2A-H2B antibody positivity)\n", + " \n", + " \n", + " Reduced cooperative imaginative play\n", + " definition of HP:5200035 (Reduced cooperative imaginative play)\n", + " \n", + " \n", + " Failure of a child to engage with peers games that involve creating imaginary scenarios or narratives, for instance, in which children pretend to be characters or act out adventurous scenarios.\n", + " definition of HP:5200035 (Reduced cooperative imaginative play)\n", + " \n", + " \n", + " #Reduced collaborative imaginative play\n", + " definition of HP:5200035 (Reduced cooperative imaginative play)\n", + " \n", + " \n", + " Intramuscular hematoma\n", + " definition of HP:0012233 (Intramuscular hematoma)\n", + " \n", + " \n", + " Blood clot formed within muscle tissue following leakage of blood into the tissue.\n", + " definition of HP:0012233 (Intramuscular hematoma)\n", + " \n", + " \n", + " #IM hematoma #Intramuscular haematoma #Intramuscular haemorrhage #Intramuscular hemorrhage\n", + " definition of HP:0012233 (Intramuscular hematoma)\n", + " \n", + " \n", + " Aplasia of the pyramidal tract\n", + " definition of HP:0100322 (Aplasia of the pyramidal tract)\n", + " \n", + " \n", + " #Absent pyramidal tract\n", + " definition of HP:0100322 (Aplasia of the pyramidal tract)\n", + " \n", + " \n", + " Shallow acetabular fossae\n", + " definition of HP:0003182 (Shallow acetabular fossae)\n", + " \n", + " \n", + " #Shallow acetabula #Shallow acetabulae #Shallow acetabular fossa #Shallow acetabulum\n", + " definition of HP:0003182 (Shallow acetabular fossae)\n", + " \n", + " \n", + " Ampulla of Vater carcinoma\n", + " definition of HP:0031524 (Ampulla of Vater carcinoma)\n", + " \n", + " \n", + " A carcinoma originating in the ampulla of Vater (also known as the hepatopancreatic duct), which is formed by the union of the pancreatic duct and the common bile duct.\n", + " definition of HP:0031524 (Ampulla of Vater carcinoma)\n", + " \n", + " \n", + " Chronic active Epstein-Barr virus infection\n", + " definition of HP:0032204 (Chronic active Epstein-Barr virus infection)\n", + " \n", + " \n", + " Chronic active Epstein-Barr virus (EBV) infection is an uncommon outcome of EBV infection and may present as a waxing and waning or fulminant syndrome. Unlike acute infectious mononucleosis, wherein EBV establishes lifelong infection and survives by maintaining a delicate balance with the host as a latent infection, in chronic active EBV infection the host-virus balance is disturbed.\n", + " definition of HP:0032204 (Chronic active Epstein-Barr virus infection)\n", + " \n", + " \n", + " Congenital thrombocytopenia\n", + " definition of HP:0001905 (Congenital thrombocytopenia)\n", + " \n", + " \n", + " Thrombocytopenia with congenital onset.\n", + " definition of HP:0001905 (Congenital thrombocytopenia)\n", + " \n", + " \n", + " #thrombocytopenia, congenital\n", + " definition of HP:0001905 (Congenital thrombocytopenia)\n", + " \n", + " \n", + " Binasal hemianopia\n", + " definition of HP:0030520 (Binasal hemianopia)\n", + " \n", + " \n", + " EEG with generalized low amplitude activity\n", + " definition of HP:0010854 (EEG with generalized low amplitude activity)\n", + " \n", + " \n", + " An abnormal generalized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG).\n", + " definition of HP:0010854 (EEG with generalized low amplitude activity)\n", + " \n", + " \n", + " #EEG with generalised low amplitude activity #EEG: generalised low amplitude activity #EEG: generalized low amplitude activity\n", + " definition of HP:0010854 (EEG with generalized low amplitude activity)\n", + " \n", + " \n", + " Pyuria\n", + " definition of HP:0012085 (Pyuria)\n", + " \n", + " \n", + " The presence of 10 or more white cells per cubic millimeter in a urine specimen, 3 or more white cells per high-power field of unspun urine, a positive result on Gram staining of an unspun urine specimen, or a urinary dipstick test that is positive for leukocyte esterase.\n", + " definition of HP:0012085 (Pyuria)\n", + " \n", + " \n", + " #High urine neutrophil count\n", + " definition of HP:0012085 (Pyuria)\n", + " \n", + " \n", + " Abnormality of cranial sutures\n", + " definition of HP:0011329 (Abnormality of cranial sutures)\n", + " \n", + " \n", + " Any anomaly of a cranial suture, that is one of the six membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant.\n", + " definition of HP:0011329 (Abnormality of cranial sutures)\n", + " \n", + " \n", + " #Abnormality of cranial sutures #Abnormality of the bregma sutures #Abnormality of the calvarium sutures #Abnormality of the cranial sutures #Abnormality of the skull suture\n", + " definition of HP:0011329 (Abnormality of cranial sutures)\n", + " \n", + " \n", + " Ventricular fibrillation\n", + " definition of HP:0001663 (Ventricular fibrillation)\n", + " \n", + " \n", + " Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations.\n", + " definition of HP:0001663 (Ventricular fibrillation)\n", + " \n", + " \n", + " Autoamputation of foot\n", + " definition of HP:0001868 (Autoamputation of foot)\n", + " \n", + " \n", + " The spontaneous detachment of a foot from the body due to long standing pathology.\n", + " definition of HP:0001868 (Autoamputation of foot)\n", + " \n", + " \n", + " Cerebral palsy\n", + " definition of HP:0100021 (Cerebral palsy)\n", + " \n", + " \n", + " Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behavior, by epilepsy, and by secondary musculoskeletal problems.\n", + " definition of HP:0100021 (Cerebral palsy)\n", + " \n", + " \n", + " #Cerebral paralysis #CP\n", + " definition of HP:0100021 (Cerebral palsy)\n", + " \n", + " \n", + " Angulation of penis\n", + " definition of HP:6000085 (Angulation of penis)\n", + " \n", + " \n", + " Abnormally increased curvature of the penis.\n", + " definition of HP:6000085 (Angulation of penis)\n", + " \n", + " \n", + " #Bent penis\n", + " definition of HP:6000085 (Angulation of penis)\n", + " \n", + " \n", + " Abnormal size of pituitary gland\n", + " definition of HP:0012504 (Abnormal size of pituitary gland)\n", + " \n", + " \n", + " A deviation from the normal size of the pituitary gland.\n", + " definition of HP:0012504 (Abnormal size of pituitary gland)\n", + " \n", + " \n", + " Diffuse white matter abnormalities\n", + " definition of HP:0007204 (Diffuse white matter abnormalities)\n", + " \n", + " \n", + " T lymphocytopenia\n", + " definition of HP:0005403 (T lymphocytopenia)\n", + " \n", + " \n", + " An abnormally low count of T cells.\n", + " definition of HP:0005403 (T lymphocytopenia)\n", + " \n", + " \n", + " #Decrease in T cell count #Decrease in T cell number #Decreased numbers of circulating T cells #Low T cell count #Reduced number of T cells\n", + " definition of HP:0005403 (T lymphocytopenia)\n", + " \n", + " \n", + " Retropharyngeal hemangioma\n", + " definition of HP:0410273 (Retropharyngeal hemangioma)\n", + " \n", + " \n", + " A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the retropharyngeal space, the portion of the peripharyngeal space that is located posterior to the pharynx.\n", + " definition of HP:0410273 (Retropharyngeal hemangioma)\n", + " \n", + " \n", + " Fractured vertebra\n", + " definition of HP:0041166 (Fractured vertebra)\n", + " \n", + " \n", + " A partial or complete breakage of the vertebra.\n", + " definition of HP:0041166 (Fractured vertebra)\n", + " \n", + " \n", + " #bone vertebra\n", + " definition of HP:0041166 (Fractured vertebra)\n", + " \n", + " \n", + " Partial duplication of phalanx of the 2nd toe\n", + " definition of HP:0010428 (Partial duplication of phalanx of the 2nd toe)\n", + " \n", + " \n", + " Partial duplication of a phalanx of second toe.\n", + " definition of HP:0010428 (Partial duplication of phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Partial duplication of 2nd toe bone\n", + " definition of HP:0010428 (Partial duplication of phalanx of the 2nd toe)\n", + " \n", + " \n", + " Cortical radial artery medial atrophy\n", + " definition of HP:0033912 (Cortical radial artery medial atrophy)\n", + " \n", + " \n", + " Atrophy (wasting, decreased thickness) of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney.\n", + " definition of HP:0033912 (Cortical radial artery medial atrophy)\n", + " \n", + " \n", + " #Interlobular artery medial atrophy #Medial atrophy within interlobular arteries\n", + " definition of HP:0033912 (Cortical radial artery medial atrophy)\n", + " \n", + " \n", + " Decreased glycosyltransferase O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase level\n", + " definition of HP:0410349 (Decreased glycosyltransferase O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase level)\n", + " \n", + " \n", + " An abnormal decrease in glycosyltransferase O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase enzymatic level.\n", + " definition of HP:0410349 (Decreased glycosyltransferase O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase level)\n", + " \n", + " \n", + " Rectal duplication\n", + " definition of HP:6000336 (Rectal duplication)\n", + " \n", + " \n", + " A developmental anomaly characterized by an additional rectum that is typically lined with intestinal mucosa with one or more cell types of the gastrointestinal tract overlying submucosa and smooth muscle layer.\n", + " definition of HP:6000336 (Rectal duplication)\n", + " \n", + " \n", + " Hyperconvex fingernails\n", + " definition of HP:0001812 (Hyperconvex fingernails)\n", + " \n", + " \n", + " When viewed on end (with the finger tip pointing toward the examiner's eye) the curve of the fingernail forms a tighter curve of convexity.\n", + " definition of HP:0001812 (Hyperconvex fingernails)\n", + " \n", + " \n", + " #Tubular fingernails\n", + " definition of HP:0001812 (Hyperconvex fingernails)\n", + " \n", + " \n", + " Symmetric polyarthritis\n", + " definition of HP:0040311 (Symmetric polyarthritis)\n", + " \n", + " \n", + " Polyarthritis refers to a joint disease that involves at least five joints. One or more signs of inflammation, including pain, movement restriction, swelling, warmth, and redness, are seen in the joints involved. Polyarthritis is defined as symmetric if at least half of the joints involved are affected in a symmetric (i.e., both right and the left) fashion.\n", + " definition of HP:0040311 (Symmetric polyarthritis)\n", + " \n", + " \n", + " Atresia of the Eustachian tube\n", + " definition of HP:0040117 (Atresia of the Eustachian tube)\n", + " \n", + " \n", + " Squamosal suture synostosis\n", + " definition of HP:6000612 (Squamosal suture synostosis)\n", + " \n", + " \n", + " Premature closure of the squamosal suture, which is one of the lateral minor skull sutures, separating the parietal and squamous temporal bones.\n", + " definition of HP:6000612 (Squamosal suture synostosis)\n", + " \n", + " \n", + " Round face\n", + " definition of HP:0000311 (Round face)\n", + " \n", + " \n", + " The facial appearance is more circular than usual as viewed from the front.\n", + " definition of HP:0000311 (Round face)\n", + " \n", + " \n", + " #Circular face #Round face #Round facial appearance #Round facial shape #Round facies\n", + " definition of HP:0000311 (Round face)\n", + " \n", + " \n", + " Broad face\n", + " definition of HP:0000283 (Broad face)\n", + " \n", + " \n", + " Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective).\n", + " definition of HP:0000283 (Broad face)\n", + " \n", + " \n", + " #Broad face #Broad facies #Horizontal excess of face #Horizontal hyperplasia of face #Increased breadth of face #Increased horizontal dimension of face #Increased transverse dimension of face #Increased width of face #Transverse excess of face #Transverse hyperplasia of face #Wide face #Wide facies\n", + " definition of HP:0000283 (Broad face)\n", + " \n", + " \n", + " Hypochromic anemia\n", + " definition of HP:0001931 (Hypochromic anemia)\n", + " \n", + " \n", + " A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes.\n", + " definition of HP:0001931 (Hypochromic anemia)\n", + " \n", + " \n", + " #Hypochromic anemia\n", + " definition of HP:0001931 (Hypochromic anemia)\n", + " \n", + " \n", + " Reduced glutathione synthetase level\n", + " definition of HP:0003343 (Reduced glutathione synthetase level)\n", + " \n", + " \n", + " Reduced level of the enzyme glutathione synthetase, which catalyzes the last step in the synthesis of glutathione and a deficiency results in low levels of glutathione. Acidosis is due to reduced feedback inhibition of gamma-glutamyl cysteine synthetase in the gamma-glutamyl cycle, which ultimately leads to overproduction and accumulation of 5-oxoproline.\n", + " definition of HP:0003343 (Reduced glutathione synthetase level)\n", + " \n", + " \n", + " #Glutathione synthetase deficiency\n", + " definition of HP:0003343 (Reduced glutathione synthetase level)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the phalanges of the toes\n", + " definition of HP:0010173 (Aplasia/Hypoplasia of the phalanges of the toes)\n", + " \n", + " \n", + " #Absent/small toe bones #Absent/underdeveloped toe bones\n", + " definition of HP:0010173 (Aplasia/Hypoplasia of the phalanges of the toes)\n", + " \n", + " \n", + " Indurated nodule\n", + " definition of HP:0032217 (Indurated nodule)\n", + " \n", + " \n", + " A skin nodule that is unusually hard (indurated).\n", + " definition of HP:0032217 (Indurated nodule)\n", + " \n", + " \n", + " EEG with frontal focal spike waves\n", + " definition of HP:0012010 (EEG with frontal focal spike waves)\n", + " \n", + " \n", + " EEG with focal sharp transient waves in the frontal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.\n", + " definition of HP:0012010 (EEG with frontal focal spike waves)\n", + " \n", + " \n", + " Narrow philtrum\n", + " definition of HP:0011829 (Narrow philtrum)\n", + " \n", + " \n", + " Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations below the mean. Alternatively, an apparently decreased distance between the ridges of the philtrum.\n", + " definition of HP:0011829 (Narrow philtrum)\n", + " \n", + " \n", + " #Decreased breadth of philtrum #Decreased horizontal dimension of philtrum #Decreased transverse dimension of philtrum #Decreased width of philtrum #Philtrum, Narrow #Thin philtrum\n", + " definition of HP:0011829 (Narrow philtrum)\n", + " \n", + " \n", + " Medial calcification of large arteries\n", + " definition of HP:0004966 (Medial calcification of large arteries)\n", + " \n", + " \n", + " Calcification, that is, pathological deposition of calcium salts in the tunica media of large (conduit) arteries.\n", + " definition of HP:0004966 (Medial calcification of large arteries)\n", + " \n", + " \n", + " Limb tremor\n", + " definition of HP:0200085 (Limb tremor)\n", + " \n", + " \n", + " #Involuntary shaking of limb #Limb tremor\n", + " definition of HP:0200085 (Limb tremor)\n", + " \n", + " \n", + " Abnormal U wave\n", + " definition of HP:0025070 (Abnormal U wave)\n", + " \n", + " \n", + " An anomaly of the U wave of the electrocardiogram (EKG). The U wave is a small (0.5 mm) deflection immediately following the T wave, usually in the same direction as the T wave. It is best seen in leads V2 and V3.\n", + " definition of HP:0025070 (Abnormal U wave)\n", + " \n", + " \n", + " Osteolysis involving tarsal bones\n", + " definition of HP:0006234 (Osteolysis involving tarsal bones)\n", + " \n", + " \n", + " An increased resorption of bone matrix by osteoclasts leading to bony defects involving the tarsal bones.\n", + " definition of HP:0006234 (Osteolysis involving tarsal bones)\n", + " \n", + " \n", + " #Tarsal bone osteolysis #Tarsal osteolysis\n", + " definition of HP:0006234 (Osteolysis involving tarsal bones)\n", + " \n", + " \n", + " Olfactory esthesioneuroblastoma\n", + " definition of HP:0030068 (Olfactory esthesioneuroblastoma)\n", + " \n", + " \n", + " A malignant olfactory neuroblastoma arising from the olfactory epithelium of the superior nasal cavity and cribriform plate.\n", + " definition of HP:0030068 (Olfactory esthesioneuroblastoma)\n", + " \n", + " \n", + " Absent antitragus\n", + " definition of HP:0011249 (Absent antitragus)\n", + " \n", + " \n", + " Absence of the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix.\n", + " definition of HP:0011249 (Absent antitragus)\n", + " \n", + " \n", + " Patchy sclerosis of the proximal phalanx of the 3rd toe\n", + " definition of HP:0100464 (Patchy sclerosis of the proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Uneven increase in bone density in the innermost bone of the 3rd toe\n", + " definition of HP:0100464 (Patchy sclerosis of the proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Hyperlordosis\n", + " definition of HP:0003307 (Hyperlordosis)\n", + " \n", + " \n", + " Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine.\n", + " definition of HP:0003307 (Hyperlordosis)\n", + " \n", + " \n", + " #Lordosis #Prominent swayback\n", + " definition of HP:0003307 (Hyperlordosis)\n", + " \n", + " \n", + " Enlarged thorax\n", + " definition of HP:0100625 (Enlarged thorax)\n", + " \n", + " \n", + " #Wide rib cage #Wide thorax\n", + " definition of HP:0100625 (Enlarged thorax)\n", + " \n", + " \n", + " Osteolysis of patellae\n", + " definition of HP:0006378 (Osteolysis of patellae)\n", + " \n", + " \n", + " Calcification of the aorta\n", + " definition of HP:0004963 (Calcification of the aorta)\n", + " \n", + " \n", + " Calcification, that is, pathological deposition of calcium salts in the aorta.\n", + " definition of HP:0004963 (Calcification of the aorta)\n", + " \n", + " \n", + " IgA heavy chain paraproteinemia\n", + " definition of HP:0020194 (IgA heavy chain paraproteinemia)\n", + " \n", + " \n", + " An abnormal IgA heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells.\n", + " definition of HP:0020194 (IgA heavy chain paraproteinemia)\n", + " \n", + " \n", + " Malaise\n", + " definition of HP:0033834 (Malaise)\n", + " \n", + " \n", + " A feeling of general discomfort, weakness, or lack of health.\n", + " definition of HP:0033834 (Malaise)\n", + " \n", + " \n", + " Recurrent oral herpes\n", + " definition of HP:0410028 (Recurrent oral herpes)\n", + " \n", + " \n", + " Recurrent episodes of oral herpes, typically characterized by blisters or ulcers on the gums, lips and/or tongue caused by herpes virus.\n", + " definition of HP:0410028 (Recurrent oral herpes)\n", + " \n", + " \n", + " #Recurrent herpes labialis\n", + " definition of HP:0410028 (Recurrent oral herpes)\n", + " \n", + " \n", + " Foramen ovale aneurysm\n", + " definition of HP:0025730 (Foramen ovale aneurysm)\n", + " \n", + " \n", + " Foramen ovale aneurysm (FOA) or atrial septal aneurysm is abnormal redundancy of the atrial septum primum, with bulging of the septum by at least half the width of the atrial chamber, or by at least 10 mm beyond the level of the atrial septum. The abnormal protrusion of the interatrial septum results in decreased left atrial volume. On color Doppler there is reduced left ventricular inflow.\n", + " definition of HP:0025730 (Foramen ovale aneurysm)\n", + " \n", + " \n", + " #Fetal atrial septal dilatation #Foetal atrial septal dilatation #Redundant septum primum flap\n", + " definition of HP:0025730 (Foramen ovale aneurysm)\n", + " \n", + " \n", + " Pericardial effusion\n", + " definition of HP:0001698 (Pericardial effusion)\n", + " \n", + " \n", + " Accumulation of fluid within the pericardium.\n", + " definition of HP:0001698 (Pericardial effusion)\n", + " \n", + " \n", + " #Fluid around heart #Pericardial effusions\n", + " definition of HP:0001698 (Pericardial effusion)\n", + " \n", + " \n", + " Dyskinesia\n", + " definition of HP:0100660 (Dyskinesia)\n", + " \n", + " \n", + " A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements.\n", + " definition of HP:0100660 (Dyskinesia)\n", + " \n", + " \n", + " #Disorder of involuntary muscle movements #Dyskinesis\n", + " definition of HP:0100660 (Dyskinesia)\n", + " \n", + " \n", + " Ophthalmoplegia\n", + " definition of HP:0000602 (Ophthalmoplegia)\n", + " \n", + " \n", + " Paralysis of one or more extraocular muscles that are responsible for eye movements.\n", + " definition of HP:0000602 (Ophthalmoplegia)\n", + " \n", + " \n", + " #Eye muscle paralysis #Paralysis of extraocular eye movement\n", + " definition of HP:0000602 (Ophthalmoplegia)\n", + " \n", + " \n", + " Nodular-perilymphatic pattern on pulmonary HRCT\n", + " definition of HP:0025398 (Nodular-perilymphatic pattern on pulmonary HRCT)\n", + " \n", + " \n", + " A nodular pattern on pulmonary high-resolution computed tomography that has a perilymphatic distribution.\n", + " definition of HP:0025398 (Nodular-perilymphatic pattern on pulmonary HRCT)\n", + " \n", + " \n", + " Nuclear cataract\n", + " definition of HP:0100018 (Nuclear cataract)\n", + " \n", + " \n", + " A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown.\n", + " definition of HP:0100018 (Nuclear cataract)\n", + " \n", + " \n", + " #Yellowish cloudy center of lens #Yellowish cloudy centre of lens\n", + " definition of HP:0100018 (Nuclear cataract)\n", + " \n", + " \n", + " Abnormal internal genitalia\n", + " definition of HP:0000812 (Abnormal internal genitalia)\n", + " \n", + " \n", + " An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male).\n", + " definition of HP:0000812 (Abnormal internal genitalia)\n", + " \n", + " \n", + " #Abnormal internal genitalia\n", + " definition of HP:0000812 (Abnormal internal genitalia)\n", + " \n", + " \n", + " Uterine mass\n", + " definition of HP:0034881 (Uterine mass)\n", + " \n", + " \n", + " A swelling or enlargement localized to the uterus. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.\n", + " definition of HP:0034881 (Uterine mass)\n", + " \n", + " \n", + " Neuroma\n", + " definition of HP:0030430 (Neuroma)\n", + " \n", + " \n", + " A tumor made up of nerve cells and nerve fibers.\n", + " definition of HP:0030430 (Neuroma)\n", + " \n", + " \n", + " #Nerve tumor #Nerve tumour #Pinched nerve\n", + " definition of HP:0030430 (Neuroma)\n", + " \n", + " \n", + " Reduced epidermal collagen XVII protein expression\n", + " definition of HP:0034578 (Reduced epidermal collagen XVII protein expression)\n", + " \n", + " \n", + " #Skin biopsy: collagen XVII antibody staining abnormal or absent\n", + " definition of HP:0034578 (Reduced epidermal collagen XVII protein expression)\n", + " \n", + " \n", + " Elevated CSF myelin basic protein concentration\n", + " definition of HP:6000205 (Elevated CSF myelin basic protein concentration)\n", + " \n", + " \n", + " The concentration of myelin basic protein in the cerebrospinal fluid (CSF) is above the upper limit of normal.\n", + " definition of HP:6000205 (Elevated CSF myelin basic protein concentration)\n", + " \n", + " \n", + " #Myelin basic protein high in CSF\n", + " definition of HP:6000205 (Elevated CSF myelin basic protein concentration)\n", + " \n", + " \n", + " Punctate corneal dystrophy\n", + " definition of HP:0007809 (Punctate corneal dystrophy)\n", + " \n", + " \n", + " Specific anosmia\n", + " definition of HP:0012247 (Specific anosmia)\n", + " \n", + " \n", + " Anosmia for one particular odor.\n", + " definition of HP:0012247 (Specific anosmia)\n", + " \n", + " \n", + " Hypoplasia of the ventral pons\n", + " definition of HP:0006850 (Hypoplasia of the ventral pons)\n", + " \n", + " \n", + " Underdevelopment of the ventral portion of the pons.\n", + " definition of HP:0006850 (Hypoplasia of the ventral pons)\n", + " \n", + " \n", + " #Underdeveloped ventral pons\n", + " definition of HP:0006850 (Hypoplasia of the ventral pons)\n", + " \n", + " \n", + " Limited pronation/supination of forearm\n", + " definition of HP:0006394 (Limited pronation/supination of forearm)\n", + " \n", + " \n", + " A limitation of the ability to place the forearm in a position such that the palm faces anteriorly (supination) and to place the forearm in a position such that the palm faces posteriorly (pronation).\n", + " definition of HP:0006394 (Limited pronation/supination of forearm)\n", + " \n", + " \n", + " #Limited pronation/supination of forearm\n", + " definition of HP:0006394 (Limited pronation/supination of forearm)\n", + " \n", + " \n", + " Broad nasal tip\n", + " definition of HP:0000455 (Broad nasal tip)\n", + " \n", + " \n", + " Increase in width of the nasal tip.\n", + " definition of HP:0000455 (Broad nasal tip)\n", + " \n", + " \n", + " #Broad nasal tip #Broad tip of nose #Broad, upturned nose #Increased breadth of nasal tip #Increased breadth of tip of nose #Increased width of nasal tip #Increased width of tip of nose #Nasal tip, broad #Nasal tip, wide #Wide tip of nose\n", + " definition of HP:0000455 (Broad nasal tip)\n", + " \n", + " \n", + " Complex renal cyst\n", + " definition of HP:0032963 (Complex renal cyst)\n", + " \n", + " \n", + " A renal cyst characterized by epithelium lined space (squamous/columnar) with septations.\n", + " definition of HP:0032963 (Complex renal cyst)\n", + " \n", + " \n", + " Osteoporotic femoral neck\n", + " definition of HP:6000779 (Osteoporotic femoral neck)\n", + " \n", + " \n", + " Low bone mass localized in the neck of the femur. Osteoporosis is defined based on a T-score of -2.5 or lower (bone mineral density of 2.5 or more standard deviations below that of a normal young adult).\n", + " definition of HP:6000779 (Osteoporotic femoral neck)\n", + " \n", + " \n", + " #Osteoporosis of femoral neck\n", + " definition of HP:6000779 (Osteoporotic femoral neck)\n", + " \n", + " \n", + " 4-hydroxyphenyllactic aciduria\n", + " definition of HP:6000275 (4-hydroxyphenyllactic aciduria)\n", + " \n", + " \n", + " Amount of 4-hydroxyphenyllactic acid in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000275 (4-hydroxyphenyllactic aciduria)\n", + " \n", + " \n", + " Recurrent loss of toenails and fingernails\n", + " definition of HP:0008390 (Recurrent loss of toenails and fingernails)\n", + " \n", + " \n", + " Repeated loss, or shedding, of the nails of the fingers and toes.\n", + " definition of HP:0008390 (Recurrent loss of toenails and fingernails)\n", + " \n", + " \n", + " #Recurrent loss of toenails and fingernails #Recurrent shedding of toenails and fingernails\n", + " definition of HP:0008390 (Recurrent loss of toenails and fingernails)\n", + " \n", + " \n", + " Neonatal respiratory distress\n", + " definition of HP:0002643 (Neonatal respiratory distress)\n", + " \n", + " \n", + " Respiratory difficulty as newborn.\n", + " definition of HP:0002643 (Neonatal respiratory distress)\n", + " \n", + " \n", + " #Infantile respiratory distress #Neonatal respiratory distress #Newborn respiratory distress #Respiratory distress, neonatal\n", + " definition of HP:0002643 (Neonatal respiratory distress)\n", + " \n", + " \n", + " Abnormal umbilical stump bleeding\n", + " definition of HP:0011884 (Abnormal umbilical stump bleeding)\n", + " \n", + " \n", + " Abnormal bleeding of the umbilical stump following separation of the cord at approximately 7-10 days after birth.\n", + " definition of HP:0011884 (Abnormal umbilical stump bleeding)\n", + " \n", + " \n", + " Accommodative esotropia\n", + " definition of HP:0020046 (Accommodative esotropia)\n", + " \n", + " \n", + " A form of esotropia (convergent deviation of the eyes) associated with activation of the accommodative reflex.\n", + " definition of HP:0020046 (Accommodative esotropia)\n", + " \n", + " \n", + " Acute encephalopathy\n", + " definition of HP:0006846 (Acute encephalopathy)\n", + " \n", + " \n", + " Bitemporal hollowing\n", + " definition of HP:0025386 (Bitemporal hollowing)\n", + " \n", + " \n", + " Depression of profile in both temporal regions.\n", + " definition of HP:0025386 (Bitemporal hollowing)\n", + " \n", + " \n", + " EMG: slow motor conduction\n", + " definition of HP:0100287 (EMG: slow motor conduction)\n", + " \n", + " \n", + " The presence of reduced conduction velocity of motor nerves on electromyography.\n", + " definition of HP:0100287 (EMG: slow motor conduction)\n", + " \n", + " \n", + " Recurrent long bone fractures\n", + " definition of HP:0003084 (Recurrent long bone fractures)\n", + " \n", + " \n", + " An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula, humerus, radius, and ulna).\n", + " definition of HP:0003084 (Recurrent long bone fractures)\n", + " \n", + " \n", + " #Fractures of the long bones #Increased long bone fracture rate\n", + " definition of HP:0003084 (Recurrent long bone fractures)\n", + " \n", + " \n", + " Yellow nodule\n", + " definition of HP:0025554 (Yellow nodule)\n", + " \n", + " \n", + " A type of skin nodule (a lesions that is greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat) with a yellowish coloration (that reflects a high lipid content of the lesion).\n", + " definition of HP:0025554 (Yellow nodule)\n", + " \n", + " \n", + " Bilateral triphalangeal thumbs\n", + " definition of HP:0005707 (Bilateral triphalangeal thumbs)\n", + " \n", + " \n", + " A bilateral form of triphalangeal thumb.\n", + " definition of HP:0005707 (Bilateral triphalangeal thumbs)\n", + " \n", + " \n", + " #Bilateral digitalized thumb\n", + " definition of HP:0005707 (Bilateral triphalangeal thumbs)\n", + " \n", + " \n", + " Anterior wedging of T11\n", + " definition of HP:0004573 (Anterior wedging of T11)\n", + " \n", + " \n", + " An abnormality of the shape of the thoracic vertebra T11 such that it is wedge-shaped (narrow towards the front).\n", + " definition of HP:0004573 (Anterior wedging of T11)\n", + " \n", + " \n", + " #Anterior wedging of the 11th thoracic vertebra #Wedge-shaped 11th thoracic vertebra\n", + " definition of HP:0004573 (Anterior wedging of T11)\n", + " \n", + " \n", + " Calcium oxalate crystalluria\n", + " definition of HP:0020145 (Calcium oxalate crystalluria)\n", + " \n", + " \n", + " The presence of calcium oxalate crystals in the urine.\n", + " definition of HP:0020145 (Calcium oxalate crystalluria)\n", + " \n", + " \n", + " Architectural distortion of breast\n", + " definition of HP:0040404 (Architectural distortion of breast)\n", + " \n", + " \n", + " Architectural distortion is defined as an architectural disruption of the normal breast that does not have obvious mass opacities, which may be early signs of breast carcinoma.\n", + " definition of HP:0040404 (Architectural distortion of breast)\n", + " \n", + " \n", + " Preauricular cyst\n", + " definition of HP:0040297 (Preauricular cyst)\n", + " \n", + " \n", + " Preauricular sinus is an occasional finding and most frequently appears as a small pit close to the anterior margin of the ascending portion of the helix. The opening has also been reported along the postero superior margin of the helix, the tragus or the lobule. Preauricular sinus may lead to the formation of a subcutaneous cyst that is intimately related to the tragal cartilage and the anterior crus of the helix.\n", + " definition of HP:0040297 (Preauricular cyst)\n", + " \n", + " \n", + " Short 3rd metacarpal\n", + " definition of HP:0010041 (Short 3rd metacarpal)\n", + " \n", + " \n", + " Short third metacarpal bone.\n", + " definition of HP:0010041 (Short 3rd metacarpal)\n", + " \n", + " \n", + " #Hypoplastic 3rd metacarpal #Short third metacarpals #Shortened 3rd long bone of hand #Small 3rd metacarpals\n", + " definition of HP:0010041 (Short 3rd metacarpal)\n", + " \n", + " \n", + " Abnormal nasal dorsum morphology\n", + " definition of HP:0011119 (Abnormal nasal dorsum morphology)\n", + " \n", + " \n", + " An abnormality of the nasal dorsum, also known as the nasal ridge.\n", + " definition of HP:0011119 (Abnormal nasal dorsum morphology)\n", + " \n", + " \n", + " #Abnormality of the dorsum of nose #Abnormality of the nasal dorsum #Abnormality of the nasal ridge #Anomaly of the nasal ridge\n", + " definition of HP:0011119 (Abnormal nasal dorsum morphology)\n", + " \n", + " \n", + " Majocchi's granuloma\n", + " definition of HP:0032517 (Majocchi's granuloma)\n", + " \n", + " \n", + " Majocchi's granuloma (MG) is an inflammatory and granulomatous, dermatophytic infection characterized by a granulomatous inflammation around the hair follicle. Histopathologically, MG demonstrates a nodular perifollicular granulomatous infiltrate of lymphoid cells, macrophages, epithelioid cells, multinucleated giant cells, and neutrophils. Unlike superficial dermatophytoses, fungal hyphae and spores can be detected not only on the surface of the epidermis but also within or around the hair follicles.\n", + " definition of HP:0032517 (Majocchi's granuloma)\n", + " \n", + " \n", + " Regional right ventricular hypokinesis\n", + " definition of HP:0034330 (Regional right ventricular hypokinesis)\n", + " \n", + " \n", + " Decreased range of right ventricular motion in a portion of the right ventricle of the heart.\n", + " definition of HP:0034330 (Regional right ventricular hypokinesis)\n", + " \n", + " \n", + " Coronal hypospadias\n", + " definition of HP:0008743 (Coronal hypospadias)\n", + " \n", + " \n", + " A mild form of hypospadias in which the urethra opens just under the corona glandis.\n", + " definition of HP:0008743 (Coronal hypospadias)\n", + " \n", + " \n", + " Focal impaired awareness cognitive seizure with neglect\n", + " definition of HP:0032798 (Focal impaired awareness cognitive seizure with neglect)\n", + " \n", + " \n", + " A focal cognitive seizure with neglect characterized by impairment of awareness at some point during the seizure.\n", + " definition of HP:0032798 (Focal impaired awareness cognitive seizure with neglect)\n", + " \n", + " \n", + " Decreased corneal reflex\n", + " definition of HP:0008000 (Decreased corneal reflex)\n", + " \n", + " \n", + " An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids.\n", + " definition of HP:0008000 (Decreased corneal reflex)\n", + " \n", + " \n", + " #Decreased blink reflex #Reduced corneal reflex\n", + " definition of HP:0008000 (Decreased corneal reflex)\n", + " \n", + " \n", + " Elevated circulating homovanillic acid concentration\n", + " definition of HP:0033324 (Elevated circulating homovanillic acid concentration)\n", + " \n", + " \n", + " The concentration of homovanillic acid in the blood circulation is above the upper limit of normal.\n", + " definition of HP:0033324 (Elevated circulating homovanillic acid concentration)\n", + " \n", + " \n", + " Increased superoxide dismutase level\n", + " definition of HP:0031836 (Increased superoxide dismutase level)\n", + " \n", + " \n", + " Increased level of catalysis of the reaction: 2 superoxide + 2 H+ = O2 + hydrogen peroxide.\n", + " definition of HP:0031836 (Increased superoxide dismutase level)\n", + " \n", + " \n", + " #Increased superoxide:superoxide oxidoreductase activity\n", + " definition of HP:0031836 (Increased superoxide dismutase level)\n", + " \n", + " \n", + " Hyperpigmented streaks\n", + " definition of HP:0007572 (Hyperpigmented streaks)\n", + " \n", + " \n", + " Abnormal total hemolytic complement activity\n", + " definition of HP:0031904 (Abnormal total hemolytic complement activity)\n", + " \n", + " \n", + " Any deviation from the normal total hemolytic complement activity in the circulation.\n", + " definition of HP:0031904 (Abnormal total hemolytic complement activity)\n", + " \n", + " \n", + " #Abnormal CH50\n", + " definition of HP:0031904 (Abnormal total hemolytic complement activity)\n", + " \n", + " \n", + " Limb ataxia\n", + " definition of HP:0002070 (Limb ataxia)\n", + " \n", + " \n", + " A kind of ataxia that affects movements of the extremities.\n", + " definition of HP:0002070 (Limb ataxia)\n", + " \n", + " \n", + " #Appendicular ataxia\n", + " definition of HP:0002070 (Limb ataxia)\n", + " \n", + " \n", + " Vaginal stricture\n", + " definition of HP:0025416 (Vaginal stricture)\n", + " \n", + " \n", + " A narrowing of the vagina owing to scar formation.\n", + " definition of HP:0025416 (Vaginal stricture)\n", + " \n", + " \n", + " Bilateral tonic-clonic seizure\n", + " definition of HP:0002069 (Bilateral tonic-clonic seizure)\n", + " \n", + " \n", + " A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.\n", + " definition of HP:0002069 (Bilateral tonic-clonic seizure)\n", + " \n", + " \n", + " #Bilateral convulsive seizures #Generalised convulsion #Generalised tonic-clonic seizure (without specification of onset) #Generalized convulsion #Generalized tonic-clonic seizure (without specification of onset) #Grand mal #Grand mal seizures #Seizures, tonic-clonic #Tonic-clonic convulsion #Tonic-clonic convulsions\n", + " definition of HP:0002069 (Bilateral tonic-clonic seizure)\n", + " \n", + " \n", + " Radial metaphyseal irregularity\n", + " definition of HP:0004019 (Radial metaphyseal irregularity)\n", + " \n", + " \n", + " Irregularity of the normally smooth surface of the metaphysis of the radius.\n", + " definition of HP:0004019 (Radial metaphyseal irregularity)\n", + " \n", + " \n", + " #Irregular radial metaphysis\n", + " definition of HP:0004019 (Radial metaphyseal irregularity)\n", + " \n", + " \n", + " Ungual fibroma\n", + " definition of HP:0100804 (Ungual fibroma)\n", + " \n", + " \n", + " Flesh-colored papule in or around the nail bed. Ungual fibromas may be periungual (arising under the proximal nail fold) or subungual (originating under the nail plate).\n", + " definition of HP:0100804 (Ungual fibroma)\n", + " \n", + " \n", + " #Koenen tumor #Koenen tumour #Koenen's tumor #Koenen's tumour #Parungual fibromas #Periungual fibroma\n", + " definition of HP:0100804 (Ungual fibroma)\n", + " \n", + " \n", + " Hypoplastic right heart\n", + " definition of HP:0010954 (Hypoplastic right heart)\n", + " \n", + " \n", + " Underdevelopment of the right-sided structures of the heart.\n", + " definition of HP:0010954 (Hypoplastic right heart)\n", + " \n", + " \n", + " #Hypoplastic right heart syndrome #Underdeveloped right heart\n", + " definition of HP:0010954 (Hypoplastic right heart)\n", + " \n", + " \n", + " Decreased systolic blood pressure\n", + " definition of HP:0500105 (Decreased systolic blood pressure)\n", + " \n", + " \n", + " Abnormal decrease in systolic blood pressure.\n", + " definition of HP:0500105 (Decreased systolic blood pressure)\n", + " \n", + " \n", + " #Decreased systolic BP #Reduced systolic blood pressure\n", + " definition of HP:0500105 (Decreased systolic blood pressure)\n", + " \n", + " \n", + " Type II pneumocyte hypertrophy\n", + " definition of HP:0033246 (Type II pneumocyte hypertrophy)\n", + " \n", + " \n", + " Increase in size of type II pneumocytes, characterized by qualitative morphologic alterations, including cuboidal shapes, increased nucleocytoplasmic ratio, enlarged nuclei, prominent nucleoli, and various alterations in their nuclear chromatin.\n", + " definition of HP:0033246 (Type II pneumocyte hypertrophy)\n", + " \n", + " \n", + " #Hypertrophic alveolar type II cells #Hypertrophic alveolar type II pneumocytes\n", + " definition of HP:0033246 (Type II pneumocyte hypertrophy)\n", + " \n", + " \n", + " Deficient ossification of hand bones\n", + " definition of HP:0004274 (Deficient ossification of hand bones)\n", + " \n", + " \n", + " Elevated circulating glutaric acid concentration\n", + " definition of HP:0003530 (Elevated circulating glutaric acid concentration)\n", + " \n", + " \n", + " An increased concentration of glutaric acid in the blood.\n", + " definition of HP:0003530 (Elevated circulating glutaric acid concentration)\n", + " \n", + " \n", + " #Glutarate acidemia #Glutaric acidemia\n", + " definition of HP:0003530 (Elevated circulating glutaric acid concentration)\n", + " \n", + " \n", + " Chronotropic incompetence\n", + " definition of HP:0033992 (Chronotropic incompetence)\n", + " \n", + " \n", + " Inability of the heart to increase its rate commensurate with increased activity or demand.\n", + " definition of HP:0033992 (Chronotropic incompetence)\n", + " \n", + " \n", + " Increased CSF glutamate concentration\n", + " definition of HP:0500200 (Increased CSF glutamate concentration)\n", + " \n", + " \n", + " Abnormally increased levels of glutamic acid in cerebrospinal fluid.\n", + " definition of HP:0500200 (Increased CSF glutamate concentration)\n", + " \n", + " \n", + " #High glutamic acid levels in cerebrospinal fluid\n", + " definition of HP:0500200 (Increased CSF glutamate concentration)\n", + " \n", + " \n", + " Lipemia retinalis\n", + " definition of HP:0000660 (Lipemia retinalis)\n", + " \n", + " \n", + " A creamy appearance of the retinal blood vessels that occurs when the concentration of lipids in the blood are extremely increased, with pale pink to milky white retinal vessels and altered pale reflexes from choroidal vasculature.\n", + " definition of HP:0000660 (Lipemia retinalis)\n", + " \n", + " \n", + " Neuralgia\n", + " definition of HP:0033345 (Neuralgia)\n", + " \n", + " \n", + " Pain (An unpleasant sensory and emotional experience) along the course of a nerve.\n", + " definition of HP:0033345 (Neuralgia)\n", + " \n", + " \n", + " Bacterial cell casts\n", + " definition of HP:0031204 (Bacterial cell casts)\n", + " \n", + " \n", + " A type of urinary cast that contain bacteria. Bacterial casts can be difficult to identify and can be distinguished from other types of casts using phase contrast microscopy. Bacterial casts are diagnostic of acute pyelonephritis or intrinsic renal infection.\n", + " definition of HP:0031204 (Bacterial cell casts)\n", + " \n", + " \n", + " Neonatal short-trunk short stature\n", + " definition of HP:0008857 (Neonatal short-trunk short stature)\n", + " \n", + " \n", + " A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with congenital onset recognizable at birth.\n", + " definition of HP:0008857 (Neonatal short-trunk short stature)\n", + " \n", + " \n", + " #Short-trunk dwarfism identifiable at birth\n", + " definition of HP:0008857 (Neonatal short-trunk short stature)\n", + " \n", + " \n", + " Abnormality of the mitochondrion\n", + " definition of HP:0012103 (Abnormality of the mitochondrion)\n", + " \n", + " \n", + " An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration.\n", + " definition of HP:0012103 (Abnormality of the mitochondrion)\n", + " \n", + " \n", + " Triangular shaped phalanges of the hand\n", + " definition of HP:0009774 (Triangular shaped phalanges of the hand)\n", + " \n", + " \n", + " #Delta phalanx/delta-like phalanx #Triangular shaped hand bones\n", + " definition of HP:0009774 (Triangular shaped phalanges of the hand)\n", + " \n", + " \n", + " Congenital nephrotic syndrome\n", + " definition of HP:0008677 (Congenital nephrotic syndrome)\n", + " \n", + " \n", + " Nephrotic syndrome with onset within the first three months of life.\n", + " definition of HP:0008677 (Congenital nephrotic syndrome)\n", + " \n", + " \n", + " #Congenital nephrosis\n", + " definition of HP:0008677 (Congenital nephrotic syndrome)\n", + " \n", + " \n", + " Renal tubular cyst\n", + " definition of HP:0041050 (Renal tubular cyst)\n", + " \n", + " \n", + " Tubular lumnal dilatation/prominence lined by simple layer of cuboidal-to-flat tublar epihelial cells.\n", + " definition of HP:0041050 (Renal tubular cyst)\n", + " \n", + " \n", + " #Renal tubule cyst\n", + " definition of HP:0041050 (Renal tubular cyst)\n", + " \n", + " \n", + " Retinoid exposure\n", + " definition of HP:6000092 (Retinoid exposure)\n", + " \n", + " \n", + " History of having taken retinoids.\n", + " definition of HP:6000092 (Retinoid exposure)\n", + " \n", + " \n", + " #Exposure to retinoids\n", + " definition of HP:6000092 (Retinoid exposure)\n", + " \n", + " \n", + " Proximal radial head dislocation\n", + " definition of HP:0005070 (Proximal radial head dislocation)\n", + " \n", + " \n", + " A dislocation of the head of the radius from its socket in the elbow joint in an proximal direction.\n", + " definition of HP:0005070 (Proximal radial head dislocation)\n", + " \n", + " \n", + " Abnormal CSF histidine concentration\n", + " definition of HP:0500235 (Abnormal CSF histidine concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of histidine in the cerebrospinal fluid.\n", + " definition of HP:0500235 (Abnormal CSF histidine concentration)\n", + " \n", + " \n", + " #Abnormal histidine levels in cerebrospinal fluid\n", + " definition of HP:0500235 (Abnormal CSF histidine concentration)\n", + " \n", + " \n", + " Increased Burr cell count\n", + " definition of HP:0032519 (Increased Burr cell count)\n", + " \n", + " \n", + " Burr cells, also known as echinocytes, have a speculated border over the entire cell surface. Burr cells are commonly found in both end-stage renal disease and liver disease. Small numbers of Burr cells are commonly found in healthy individuals.\n", + " definition of HP:0032519 (Increased Burr cell count)\n", + " \n", + " \n", + " Abnormal mannosylation of N-linked protein glycosylation\n", + " definition of HP:0012355 (Abnormal mannosylation of N-linked protein glycosylation)\n", + " \n", + " \n", + " An anomaly of the addition of mannose to N-linked glycans.\n", + " definition of HP:0012355 (Abnormal mannosylation of N-linked protein glycosylation)\n", + " \n", + " \n", + " Panhypopituitarism\n", + " definition of HP:0000871 (Panhypopituitarism)\n", + " \n", + " \n", + " A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin).\n", + " definition of HP:0000871 (Panhypopituitarism)\n", + " \n", + " \n", + " Short distal phalanx of the 3rd toe\n", + " definition of HP:0100389 (Short distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Developmental hypoplasia of the distal phalanx of third toe.\n", + " definition of HP:0100389 (Short distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Hypoplastic/small distal phalanx of the 3rd toe #Short distal phalanx of the third toe #Short outermost bone of the 3rd toe\n", + " definition of HP:0100389 (Short distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Distal upper limb muscle hypertrophy\n", + " definition of HP:0040267 (Distal upper limb muscle hypertrophy)\n", + " \n", + " \n", + " Brown pigment gallstones\n", + " definition of HP:0011983 (Brown pigment gallstones)\n", + " \n", + " \n", + " A type of pigment gallstone that is brown, containing calcium fatty acids. These stones are softer than black pigment gallstones.\n", + " definition of HP:0011983 (Brown pigment gallstones)\n", + " \n", + " \n", + " Recurrent trauma-related distressing dreams\n", + " definition of HP:0032938 (Recurrent trauma-related distressing dreams)\n", + " \n", + " \n", + " Recurrent distressing dreams occur when the content and/or emotional impact of the dream is connected to a traumatic event or events.\n", + " definition of HP:0032938 (Recurrent trauma-related distressing dreams)\n", + " \n", + " \n", + " Wide femoral metaphysis\n", + " definition of HP:0006417 (Wide femoral metaphysis)\n", + " \n", + " \n", + " #Broad femoral metaphyses #Broad femoral metaphysis #Broad wide portion of thigh bone\n", + " definition of HP:0006417 (Wide femoral metaphysis)\n", + " \n", + " \n", + " Elevated left ventricular end-diastolic diameter\n", + " definition of HP:0034307 (Elevated left ventricular end-diastolic diameter)\n", + " \n", + " \n", + " The LV end-diastolic internal diameter was measured from two-dimensional (2D) images in the parasternal long-axis view, timed with mitral valve closure at the level of the mitral valve chordae.\n", + " definition of HP:0034307 (Elevated left ventricular end-diastolic diameter)\n", + " \n", + " \n", + " Hypothalamic gonadotropin-releasing hormone deficiency\n", + " definition of HP:0003164 (Hypothalamic gonadotropin-releasing hormone deficiency)\n", + " \n", + " \n", + " #Hypothalamic GNRH deficiency\n", + " definition of HP:0003164 (Hypothalamic gonadotropin-releasing hormone deficiency)\n", + " \n", + " \n", + " Anterior chamber inflammatory cells\n", + " definition of HP:0031701 (Anterior chamber inflammatory cells)\n", + " \n", + " \n", + " The presence of inflammatory cells in the aqueous humor of the anterior chamber of the eye.\n", + " definition of HP:0031701 (Anterior chamber inflammatory cells)\n", + " \n", + " \n", + " Capillary malformation of the lip\n", + " definition of HP:0031487 (Capillary malformation of the lip)\n", + " \n", + " \n", + " A vascular malformation located in the lip that is characterized by ectatic papillary dermal capillaries and postcapillary venules in the upper reticular dermis.\n", + " definition of HP:0031487 (Capillary malformation of the lip)\n", + " \n", + " \n", + " Dysplastic iliac wing\n", + " definition of HP:0008794 (Dysplastic iliac wing)\n", + " \n", + " \n", + " A general term that describes a congenital defect in the iliac wing resulting from abnormal development.\n", + " definition of HP:0008794 (Dysplastic iliac wing)\n", + " \n", + " \n", + " #Dysplastic iliac wings\n", + " definition of HP:0008794 (Dysplastic iliac wing)\n", + " \n", + " \n", + " Aplasia/Hypoplasia involving bones of the skull\n", + " definition of HP:0009116 (Aplasia/Hypoplasia involving bones of the skull)\n", + " \n", + " \n", + " Lymphangiosarcoma\n", + " definition of HP:6000004 (Lymphangiosarcoma)\n", + " \n", + " \n", + " A malignant neoplasm arising from the endothelial cells of the lymphatic vessels.\n", + " definition of HP:6000004 (Lymphangiosarcoma)\n", + " \n", + " \n", + " Elevated circulating methionine sulfoxide concentration\n", + " definition of HP:6000267 (Elevated circulating methionine sulfoxide concentration)\n", + " \n", + " \n", + " The concentration of methionine sulfoxide in the blood circulation is above the upper limit of normal.\n", + " definition of HP:6000267 (Elevated circulating methionine sulfoxide concentration)\n", + " \n", + " \n", + " Abnormal glucose-6-phosphate dehydrogenase level in red blood cells\n", + " definition of HP:0410184 (Abnormal glucose-6-phosphate dehydrogenase level in red blood cells)\n", + " \n", + " \n", + " An anomaly in the level of glucose-6-phosphate dehydrogenase in red blood cells.\n", + " definition of HP:0410184 (Abnormal glucose-6-phosphate dehydrogenase level in red blood cells)\n", + " \n", + " \n", + " #Abnormal G6PD level in RBCs #Abnormal G6PD level in red blood cells\n", + " definition of HP:0410184 (Abnormal glucose-6-phosphate dehydrogenase level in red blood cells)\n", + " \n", + " \n", + " Macronodular adrenal hyperplasia\n", + " definition of HP:0008231 (Macronodular adrenal hyperplasia)\n", + " \n", + " \n", + " Prominent inferior crus of antihelix\n", + " definition of HP:0011238 (Prominent inferior crus of antihelix)\n", + " \n", + " \n", + " Increased protrusion of the inferior crus relative to the prominence of the antihelix stem.\n", + " definition of HP:0011238 (Prominent inferior crus of antihelix)\n", + " \n", + " \n", + " #Antihelix, inferior crus, prominent #Hyperplastic inferior crus of antihelix #Hypertrophic inferior crus of antihelix\n", + " definition of HP:0011238 (Prominent inferior crus of antihelix)\n", + " \n", + " \n", + " Small pituitary gland\n", + " definition of HP:0012506 (Small pituitary gland)\n", + " \n", + " \n", + " An abnormally decreased size of the pituitary gland.\n", + " definition of HP:0012506 (Small pituitary gland)\n", + " \n", + " \n", + " Chorioretinal hypopigmentation\n", + " definition of HP:0040030 (Chorioretinal hypopigmentation)\n", + " \n", + " \n", + " Abnormal corneal stroma morphology\n", + " definition of HP:0011492 (Abnormal corneal stroma morphology)\n", + " \n", + " \n", + " An abnormality of the stroma of cornea, also known as the substantia propria of cornea.\n", + " definition of HP:0011492 (Abnormal corneal stroma morphology)\n", + " \n", + " \n", + " #Abnormality of corneal stroma\n", + " definition of HP:0011492 (Abnormal corneal stroma morphology)\n", + " \n", + " \n", + " Tongue spasticity\n", + " definition of HP:0025747 (Tongue spasticity)\n", + " \n", + " \n", + " Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the tongue.\n", + " definition of HP:0025747 (Tongue spasticity)\n", + " \n", + " \n", + " Decreased total iron binding capacity\n", + " definition of HP:0033211 (Decreased total iron binding capacity)\n", + " \n", + " \n", + " A reduction in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity.\n", + " definition of HP:0033211 (Decreased total iron binding capacity)\n", + " \n", + " \n", + " Increased urinary multiantennary sialylated oligosaccharide\n", + " definition of HP:0410348 (Increased urinary multiantennary sialylated oligosaccharide)\n", + " \n", + " \n", + " An abnormal increase in the concentration of multiantennary sialylated oligosaccharides in the urine.\n", + " definition of HP:0410348 (Increased urinary multiantennary sialylated oligosaccharide)\n", + " \n", + " \n", + " #Increase concentration of multiantennary sialylated oligosaccharides in urine\n", + " definition of HP:0410348 (Increased urinary multiantennary sialylated oligosaccharide)\n", + " \n", + " \n", + " Increased circulating gonadotropin level\n", + " definition of HP:0000837 (Increased circulating gonadotropin level)\n", + " \n", + " \n", + " Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland.\n", + " definition of HP:0000837 (Increased circulating gonadotropin level)\n", + " \n", + " \n", + " #Elevated gonadotropins #Elevated serum gonadotropins #Gonadotropin excess #Increased circulating gonadotropin level\n", + " definition of HP:0000837 (Increased circulating gonadotropin level)\n", + " \n", + " \n", + " Tobacco use history\n", + " definition of HP:0430133 (Tobacco use history)\n", + " \n", + " \n", + " History of use of tobacco products such as cigarettes.\n", + " definition of HP:0430133 (Tobacco use history)\n", + " \n", + " \n", + " Congenital bilateral ptosis\n", + " definition of HP:0007911 (Congenital bilateral ptosis)\n", + " \n", + " \n", + " #Congenital drooping of both upper eyelids #Ptosis, bilateral congenital #Ptosis, congenital bilateral\n", + " definition of HP:0007911 (Congenital bilateral ptosis)\n", + " \n", + " \n", + " Absent brainstem auditory responses\n", + " definition of HP:0004463 (Absent brainstem auditory responses)\n", + " \n", + " \n", + " Lack of measurable response to stimulation of auditory evoked potentials.\n", + " definition of HP:0004463 (Absent brainstem auditory responses)\n", + " \n", + " \n", + " #No auditory brainstem response\n", + " definition of HP:0004463 (Absent brainstem auditory responses)\n", + " \n", + " \n", + " Abnormal fetal cardiovascular physiology\n", + " definition of HP:0034190 (Abnormal fetal cardiovascular physiology)\n", + " \n", + " \n", + " Abnormal functionality of the fetal cardiovascular system.\n", + " definition of HP:0034190 (Abnormal fetal cardiovascular physiology)\n", + " \n", + " \n", + " Aganglionic megacolon\n", + " definition of HP:0002251 (Aganglionic megacolon)\n", + " \n", + " \n", + " An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon.\n", + " definition of HP:0002251 (Aganglionic megacolon)\n", + " \n", + " \n", + " #Enlarged colon lacking nerve cells #Hirschsprung megacolon\n", + " definition of HP:0002251 (Aganglionic megacolon)\n", + " \n", + " \n", + " Abnormal coronary sinus morphology\n", + " definition of HP:0011642 (Abnormal coronary sinus morphology)\n", + " \n", + " \n", + " An abnormality of the coronary sinus, which is formed by the union of the great cardiac vein and the left marginal vein and terminates in the right atrium. The coronary sinus functions to o collect deoxygenated blood from the myocardium of the heart and drain it into the right atrium.\n", + " definition of HP:0011642 (Abnormal coronary sinus morphology)\n", + " \n", + " \n", + " #Abnormality of the coronary sinus\n", + " definition of HP:0011642 (Abnormal coronary sinus morphology)\n", + " \n", + " \n", + " Diastema\n", + " definition of HP:0000699 (Diastema)\n", + " \n", + " \n", + " Increased space between two adjacent teeth in the same dental arch.\n", + " definition of HP:0000699 (Diastema)\n", + " \n", + " \n", + " #Dental diastasis #Dental diastema #Diastasis of the teeth #Diastema of the teeth #Gap between teeth\n", + " definition of HP:0000699 (Diastema)\n", + " \n", + " \n", + " Abnormal proportion of CD8-positive T cells\n", + " definition of HP:0031393 (Abnormal proportion of CD8-positive T cells)\n", + " \n", + " \n", + " Any abnormality in the proportion of CD8 T cells relative to the total number of T cells.\n", + " definition of HP:0031393 (Abnormal proportion of CD8-positive T cells)\n", + " \n", + " \n", + " #Abnormal proportion of CD8+ T cells #Abnormal proportion of CD8-positive, alpha-beta T cells\n", + " definition of HP:0031393 (Abnormal proportion of CD8-positive T cells)\n", + " \n", + " \n", + " Abnormality of the elbow\n", + " definition of HP:0009811 (Abnormality of the elbow)\n", + " \n", + " \n", + " An anomaly of the joint that connects the upper and the lower arm.\n", + " definition of HP:0009811 (Abnormality of the elbow)\n", + " \n", + " \n", + " #Abnormality of the elbow #Abnormality of the elbows\n", + " definition of HP:0009811 (Abnormality of the elbow)\n", + " \n", + " \n", + " Decreased CSF erythritol concentration\n", + " definition of HP:0410056 (Decreased CSF erythritol concentration)\n", + " \n", + " \n", + " Concentration of erythritol in the cerebrospinal fluid below the lower limit of normal.\n", + " definition of HP:0410056 (Decreased CSF erythritol concentration)\n", + " \n", + " \n", + " #Decreased level of erythritol in cerebrospinal fluid\n", + " definition of HP:0410056 (Decreased CSF erythritol concentration)\n", + " \n", + " \n", + " Vitreous floaters\n", + " definition of HP:0100832 (Vitreous floaters)\n", + " \n", + " \n", + " Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humor, which is normally transparent.\n", + " definition of HP:0100832 (Vitreous floaters)\n", + " \n", + " \n", + " #Eye floaters #Flitting flies #Mouches volantes #Myodeopsia #Myodesopsia #Spots in front of eyes #Vitreous condensations #Vitreous debris #Vitreous opacities #Vitreous veils\n", + " definition of HP:0100832 (Vitreous floaters)\n", + " \n", + " \n", + " Progressive clavicular acroosteolysis\n", + " definition of HP:0000905 (Progressive clavicular acroosteolysis)\n", + " \n", + " \n", + " Progressive bone resorption in the distal part of the clavicle.\n", + " definition of HP:0000905 (Progressive clavicular acroosteolysis)\n", + " \n", + " \n", + " #Progressive acroosteolysis of the clavicle\n", + " definition of HP:0000905 (Progressive clavicular acroosteolysis)\n", + " \n", + " \n", + " Pathological inclusion body\n", + " definition of HP:6001025 (Pathological inclusion body)\n", + " \n", + " \n", + " Pathological inclusion bodies are are composed of glycogen, proteins, nucleic acids, lipids, hemosiderin, and calcium, that accumulate as metabolic by-products, catabolic products of macromolecular complexes, or in the context of cell injury.\n", + " definition of HP:6001025 (Pathological inclusion body)\n", + " \n", + " \n", + " Increased circulating arachidonic acid concentration\n", + " definition of HP:0020197 (Increased circulating arachidonic acid concentration)\n", + " \n", + " \n", + " An increased circulation of arachidonic acid in the blood circulation.\n", + " definition of HP:0020197 (Increased circulating arachidonic acid concentration)\n", + " \n", + " \n", + " #Increased circulating arachidonate level #Increased circulating arachidonic acid level\n", + " definition of HP:0020197 (Increased circulating arachidonic acid concentration)\n", + " \n", + " \n", + " Diminished ability to concentrate\n", + " definition of HP:0031987 (Diminished ability to concentrate)\n", + " \n", + " \n", + " The inability to focus or concentrate on a specific task, activity, or object. The subject may find themselves unable to grasp or understand written text and re-reads frequently without understanding. Familiar tasks or activities are severely compromised due to the lack of ability to concentrate. Thinking through multi-step problems is typically very difficult or impossible, leading to avoidance of such activities.\n", + " definition of HP:0031987 (Diminished ability to concentrate)\n", + " \n", + " \n", + " #Concentration problems #Labored thinking #Lack of concentration #Poor concentration\n", + " definition of HP:0031987 (Diminished ability to concentrate)\n", + " \n", + " \n", + " Reduced epidermal collagen VII protein expression\n", + " definition of HP:0034577 (Reduced epidermal collagen VII protein expression)\n", + " \n", + " \n", + " #Skin biopsy: collagen VII antibody staining abnormal or absent\n", + " definition of HP:0034577 (Reduced epidermal collagen VII protein expression)\n", + " \n", + " \n", + " Abnormal rituals\n", + " definition of HP:5200129 (Abnormal rituals)\n", + " \n", + " \n", + " Insistence on rituals which are self-imposed on a person's environment including directing the behavior of those around them.\n", + " definition of HP:5200129 (Abnormal rituals)\n", + " \n", + " \n", + " Patchy sclerosis of the proximal phalanx of the 5th toe\n", + " definition of HP:0100466 (Patchy sclerosis of the proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " Uneven increase in bone density of the proximal phalanx of the fifth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.\n", + " definition of HP:0100466 (Patchy sclerosis of the proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " #Uneven increase in bone density in the innermost bone of the little toe #Uneven increase in bone density in the innermost bone of the pinkie toe #Uneven increase in bone density in the innermost bone of the pinky toe\n", + " definition of HP:0100466 (Patchy sclerosis of the proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " Intestinal hypoplasia\n", + " definition of HP:0005245 (Intestinal hypoplasia)\n", + " \n", + " \n", + " Developmental hypoplasia of the intestine.\n", + " definition of HP:0005245 (Intestinal hypoplasia)\n", + " \n", + " \n", + " #Hypoplastic intestines #Underdeveloped instestine\n", + " definition of HP:0005245 (Intestinal hypoplasia)\n", + " \n", + " \n", + " Increased lymphocyte apoptosis\n", + " definition of HP:0030887 (Increased lymphocyte apoptosis)\n", + " \n", + " \n", + " A elevation in the rate of apoptosis in lymphocytes.\n", + " definition of HP:0030887 (Increased lymphocyte apoptosis)\n", + " \n", + " \n", + " Abnormal nasal septum morphology\n", + " definition of HP:0000419 (Abnormal nasal septum morphology)\n", + " \n", + " \n", + " An abnormality of the nasal septum.\n", + " definition of HP:0000419 (Abnormal nasal septum morphology)\n", + " \n", + " \n", + " #Abnormality of septum of nose #Abnormality of the nasal septum #Anomaly of nasal septum #Anomaly of septum of nose\n", + " definition of HP:0000419 (Abnormal nasal septum morphology)\n", + " \n", + " \n", + " Abnormal delayed hypersensitivity skin test\n", + " definition of HP:0002963 (Abnormal delayed hypersensitivity skin test)\n", + " \n", + " \n", + " Delay in cutaneous immune reaction to specific antigens mediated not by antibodies but by cells. The delayed hypersensitivity test is an immune function test measuring the presence of activated T cells that recognize a specific antigen and is performed by injecting a small amount of the antigen into the skin. The area of the injection is examined 48-72 hours thereafter.\n", + " definition of HP:0002963 (Abnormal delayed hypersensitivity skin test)\n", + " \n", + " \n", + " Slow-growing hair\n", + " definition of HP:0002217 (Slow-growing hair)\n", + " \n", + " \n", + " Hair whose growth is slower than normal.\n", + " definition of HP:0002217 (Slow-growing hair)\n", + " \n", + " \n", + " #Slow growing hair #Slow rate of hair growth #Slow speed of hair growth #Slow-growing hair\n", + " definition of HP:0002217 (Slow-growing hair)\n", + " \n", + " \n", + " Absent aortic valve cusps\n", + " definition of HP:0031569 (Absent aortic valve cusps)\n", + " \n", + " \n", + " A developmental defect characterized by the lack of aortic valve cusps (leaflets). There may be remnants of the aortic valve in form of a nonobstructive fibrous ridge or rudimentary leaflets or sinuses of Valsalva.\n", + " definition of HP:0031569 (Absent aortic valve cusps)\n", + " \n", + " \n", + " #Absent aortic valve\n", + " definition of HP:0031569 (Absent aortic valve cusps)\n", + " \n", + " \n", + " Breech presentation\n", + " definition of HP:0001623 (Breech presentation)\n", + " \n", + " \n", + " A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first.\n", + " definition of HP:0001623 (Breech presentation)\n", + " \n", + " \n", + " #Breech presentation at birth #Feet or buttocks of fetus positioned near opening of uterus #Feet or buttocks of foetus positioned near opening of uterus\n", + " definition of HP:0001623 (Breech presentation)\n", + " \n", + " \n", + " Fractured talus\n", + " definition of HP:0041164 (Fractured talus)\n", + " \n", + " \n", + " A partial or complete breakage of the talus.\n", + " definition of HP:0041164 (Fractured talus)\n", + " \n", + " \n", + " #bone talus\n", + " definition of HP:0041164 (Fractured talus)\n", + " \n", + " \n", + " Abnormality of the somatic nervous system\n", + " definition of HP:0410009 (Abnormality of the somatic nervous system)\n", + " \n", + " \n", + " Any abnormality of the part of the peripheral nervous system associated with sensation and skeletal muscle voluntary control of body movements.\n", + " definition of HP:0410009 (Abnormality of the somatic nervous system)\n", + " \n", + " \n", + " Abnormal granulocytopoietic cell morphology\n", + " definition of HP:0012135 (Abnormal granulocytopoietic cell morphology)\n", + " \n", + " \n", + " An anomaly of cells involved in the formation of a granulocytes, that is, of the granulocytopoietic cell.\n", + " definition of HP:0012135 (Abnormal granulocytopoietic cell morphology)\n", + " \n", + " \n", + " #Abnormality of cells of the granulocytic lineage\n", + " definition of HP:0012135 (Abnormal granulocytopoietic cell morphology)\n", + " \n", + " \n", + " Broad middle phalanx of the 2nd finger\n", + " definition of HP:0009569 (Broad middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " Increased width of the middle phalanx of the second finger.\n", + " definition of HP:0009569 (Broad middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Broad middle bone of the index finger\n", + " definition of HP:0009569 (Broad middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " Bullet-shaped distal phalanx of the thumb\n", + " definition of HP:0009643 (Bullet-shaped distal phalanx of the thumb)\n", + " \n", + " \n", + " Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the thumb is affected.\n", + " definition of HP:0009643 (Bullet-shaped distal phalanx of the thumb)\n", + " \n", + " \n", + " #Bullet-shaped outermost bone of the thumb\n", + " definition of HP:0009643 (Bullet-shaped distal phalanx of the thumb)\n", + " \n", + " \n", + " Freezing of gait\n", + " definition of HP:0031825 (Freezing of gait)\n", + " \n", + " \n", + " Freezing of gait is defined as a brief, episodic absence or marked reduction of forward progression of the feet despite the intention to walk.\n", + " definition of HP:0031825 (Freezing of gait)\n", + " \n", + " \n", + " #Freezing gait\n", + " definition of HP:0031825 (Freezing of gait)\n", + " \n", + " \n", + " Abnormal medial rectus muscle physiology\n", + " definition of HP:0025606 (Abnormal medial rectus muscle physiology)\n", + " \n", + " \n", + " A functional anomaly of the medial rectus muscle, an extraocular muscle that is innervated by the inferior division of the oculomotor nerve and whose sole action is the adduction of the eyeball.\n", + " definition of HP:0025606 (Abnormal medial rectus muscle physiology)\n", + " \n", + " \n", + " Complete diaphragmatic absence of pericardium\n", + " definition of HP:0011630 (Complete diaphragmatic absence of pericardium)\n", + " \n", + " \n", + " No pericardium over the diaphragmatic surface of the heart. It is a congenital defect, not the result of a pericardectomy. Pericardium is present on other parts of the heart.\n", + " definition of HP:0011630 (Complete diaphragmatic absence of pericardium)\n", + " \n", + " \n", + " Moderate postnatal growth retardation\n", + " definition of HP:0008855 (Moderate postnatal growth retardation)\n", + " \n", + " \n", + " A moderate degree of slow or limited growth after birth, being between three and four standard deviations below age- and sex-related norms.\n", + " definition of HP:0008855 (Moderate postnatal growth retardation)\n", + " \n", + " \n", + " #Moderate growth delay in children\n", + " definition of HP:0008855 (Moderate postnatal growth retardation)\n", + " \n", + " \n", + " Reduced urinary manganese level\n", + " definition of HP:6000481 (Reduced urinary manganese level)\n", + " \n", + " \n", + " The amount of manganese in the urine, normalized for urine concentration, is below the lower limit of normal.\n", + " definition of HP:6000481 (Reduced urinary manganese level)\n", + " \n", + " \n", + " Focal impaired awareness myoclonic seizure\n", + " definition of HP:0032730 (Focal impaired awareness myoclonic seizure)\n", + " \n", + " \n", + " A focal myoclonic seizure in which awareness is partially or fully impaired at some point during the seizure.\n", + " definition of HP:0032730 (Focal impaired awareness myoclonic seizure)\n", + " \n", + " \n", + " Hypoplasia of the upper eyelids\n", + " definition of HP:0040032 (Hypoplasia of the upper eyelids)\n", + " \n", + " \n", + " #Decreased size of upper eyelid #Underdevelopment of upper eyelid\n", + " definition of HP:0040032 (Hypoplasia of the upper eyelids)\n", + " \n", + " \n", + " Embryonal onset\n", + " definition of HP:0011460 (Embryonal onset)\n", + " \n", + " \n", + " Onset of disease at up to 8 weeks following fertilization (corresponding to 10 weeks of gestation).\n", + " definition of HP:0011460 (Embryonal onset)\n", + " \n", + " \n", + " Lethal short-limbed short stature\n", + " definition of HP:0008909 (Lethal short-limbed short stature)\n", + " \n", + " \n", + " #Lethal micromelic dwarfism #Lethal short-limbed dwarfism\n", + " definition of HP:0008909 (Lethal short-limbed short stature)\n", + " \n", + " \n", + " Anti-Ma antibody positivity\n", + " definition of HP:5000021 (Anti-Ma antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma.\n", + " definition of HP:5000021 (Anti-Ma antibody positivity)\n", + " \n", + " \n", + " Decreased circulating IgG2 concentration\n", + " definition of HP:0008348 (Decreased circulating IgG2 concentration)\n", + " \n", + " \n", + " A reduction in immunoglobulin levels of the IgG2 subclass in the blood circulation.\n", + " definition of HP:0008348 (Decreased circulating IgG2 concentration)\n", + " \n", + " \n", + " #Decreased circulating IgG2 level #Decreased IgG2 level in blood #Immunoglobulin IgG2 deficiency #Reduced IgG2 levels\n", + " definition of HP:0008348 (Decreased circulating IgG2 concentration)\n", + " \n", + " \n", + " L-2-hydroxyglutaric aciduria\n", + " definition of HP:0040144 (L-2-hydroxyglutaric aciduria)\n", + " \n", + " \n", + " An increase in the level of L-2-hydroxyglutaric acid in the urine.\n", + " definition of HP:0040144 (L-2-hydroxyglutaric aciduria)\n", + " \n", + " \n", + " Absent TSH response to thyrotrophin-releasing hormone stimulation test\n", + " definition of HP:0033081 (Absent TSH response to thyrotrophin-releasing hormone stimulation test)\n", + " \n", + " \n", + " Failure to increase serum TSH levels in response to a TRH stimulation test.\n", + " definition of HP:0033081 (Absent TSH response to thyrotrophin-releasing hormone stimulation test)\n", + " \n", + " \n", + " Absent trapezoid bone\n", + " definition of HP:0006106 (Absent trapezoid bone)\n", + " \n", + " \n", + " History of cardiovascular procedure\n", + " definition of HP:0034420 (History of cardiovascular procedure)\n", + " \n", + " \n", + " Indicates that a cardiovascular procedure such as stenting, bypass, catherization was performed on a patient.\n", + " definition of HP:0034420 (History of cardiovascular procedure)\n", + " \n", + " \n", + " Stippling of the epiphyses of the hallux\n", + " definition of HP:0010122 (Stippling of the epiphyses of the hallux)\n", + " \n", + " \n", + " The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the hallux.\n", + " definition of HP:0010122 (Stippling of the epiphyses of the hallux)\n", + " \n", + " \n", + " #Speckled calcifications in the end part of the big toe bone\n", + " definition of HP:0010122 (Stippling of the epiphyses of the hallux)\n", + " \n", + " \n", + " Hypergastrinemia\n", + " definition of HP:0500167 (Hypergastrinemia)\n", + " \n", + " \n", + " An elevated amount of gastrin in the blood.\n", + " definition of HP:0500167 (Hypergastrinemia)\n", + " \n", + " \n", + " #Elevated gastrin in the blood #Increased blood gastrin\n", + " definition of HP:0500167 (Hypergastrinemia)\n", + " \n", + " \n", + " Focal cortical dysplasia type II\n", + " definition of HP:0032051 (Focal cortical dysplasia type II)\n", + " \n", + " \n", + " A type of focal cortical dysplasia that is characterized by disrupted cortical lamination and specific cytological abnormalities.\n", + " definition of HP:0032051 (Focal cortical dysplasia type II)\n", + " \n", + " \n", + " Ocular pain\n", + " definition of HP:0200026 (Ocular pain)\n", + " \n", + " \n", + " An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye.\n", + " definition of HP:0200026 (Ocular pain)\n", + " \n", + " \n", + " #Eye pain\n", + " definition of HP:0200026 (Ocular pain)\n", + " \n", + " \n", + " Broad forehead\n", + " definition of HP:0000337 (Broad forehead)\n", + " \n", + " \n", + " Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.\n", + " definition of HP:0000337 (Broad forehead)\n", + " \n", + " \n", + " #Bitemporal widening #Broad forehead #Increased bitemporal dimension #Increased bitemporal width #Increased width of the forehead #Intertemporal widening #Wide forehead\n", + " definition of HP:0000337 (Broad forehead)\n", + " \n", + " \n", + " Enlargement of parotid gland\n", + " definition of HP:0011801 (Enlargement of parotid gland)\n", + " \n", + " \n", + " Increased size of the parotid gland.\n", + " definition of HP:0011801 (Enlargement of parotid gland)\n", + " \n", + " \n", + " #Hyperplasia of parotid gland #Increased size of parotid gland\n", + " definition of HP:0011801 (Enlargement of parotid gland)\n", + " \n", + " \n", + " 4-Hydroxyphenylpyruvic aciduria\n", + " definition of HP:0003161 (4-Hydroxyphenylpyruvic aciduria)\n", + " \n", + " \n", + " Increased relative concentration of 4-hydroxyphenylpyruvic acid in the urine.\n", + " definition of HP:0003161 (4-Hydroxyphenylpyruvic aciduria)\n", + " \n", + " \n", + " #Hydroxyphenylpyruvic aciduria\n", + " definition of HP:0003161 (4-Hydroxyphenylpyruvic aciduria)\n", + " \n", + " \n", + " Rhinorrhea\n", + " definition of HP:0031417 (Rhinorrhea)\n", + " \n", + " \n", + " Increased discharge of mucus from the nose.\n", + " definition of HP:0031417 (Rhinorrhea)\n", + " \n", + " \n", + " #Nasal Discharge #Runny Nose\n", + " definition of HP:0031417 (Rhinorrhea)\n", + " \n", + " \n", + " Cerebellar gliosis\n", + " definition of HP:0012698 (Cerebellar gliosis)\n", + " \n", + " \n", + " Focal proliferation of glial cells in the cerebellum.\n", + " definition of HP:0012698 (Cerebellar gliosis)\n", + " \n", + " \n", + " Cerebral ischemia\n", + " definition of HP:0002637 (Cerebral ischemia)\n", + " \n", + " \n", + " Restriction of arterial blood supply to the brain associated with insufficient oxygenation to support the metabolic requirements of the tissue.\n", + " definition of HP:0002637 (Cerebral ischemia)\n", + " \n", + " \n", + " #Brain ischemia #Cerebrovascular ischemia #Disruption of blood oxygen supply to brain\n", + " definition of HP:0002637 (Cerebral ischemia)\n", + " \n", + " \n", + " Osteolytic defects of the proximal phalanx of the 3rd toe\n", + " definition of HP:0100455 (Osteolytic defects of the proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Impacted tooth\n", + " definition of HP:0011079 (Impacted tooth)\n", + " \n", + " \n", + " A tooth that has not erupted because of local impediments (overcrowding or fibrous gum overgrowth).\n", + " definition of HP:0011079 (Impacted tooth)\n", + " \n", + " \n", + " #Impacted tooth #Retained tooth\n", + " definition of HP:0011079 (Impacted tooth)\n", + " \n", + " \n", + " Corneal neovascularization\n", + " definition of HP:0011496 (Corneal neovascularization)\n", + " \n", + " \n", + " Ingrowth of new blood vessels into the cornea.\n", + " definition of HP:0011496 (Corneal neovascularization)\n", + " \n", + " \n", + " #Corneal neovascularisation #Corneal vascularization #Limbal neovascularization #New blood vessel formation in cornea\n", + " definition of HP:0011496 (Corneal neovascularization)\n", + " \n", + " \n", + " Misophonia\n", + " definition of HP:0025113 (Misophonia)\n", + " \n", + " \n", + " Misophonia is characterized by strong physiological, emotional, and behavioral reactions to auditory, visual, and/or kinesthetic stimuli of different nature regardless of their physical characteristics. These misophonic responses include anger, general discomfort, disgust, anxiety, and avoidance and escape behaviors.\n", + " definition of HP:0025113 (Misophonia)\n", + " \n", + " \n", + " Adult-onset night blindness\n", + " definition of HP:0007830 (Adult-onset night blindness)\n", + " \n", + " \n", + " Inability to see well at night or in poor light with onset in adulthood.\n", + " definition of HP:0007830 (Adult-onset night blindness)\n", + " \n", + " \n", + " #Adult-onset night blindness\n", + " definition of HP:0007830 (Adult-onset night blindness)\n", + " \n", + " \n", + " Abnormal communication\n", + " definition of HP:0034434 (Abnormal communication)\n", + " \n", + " \n", + " Presence of any form of communication (e.g., verbal or non-verbal) that does not align with cultural expectations or developmental level.\n", + " definition of HP:0034434 (Abnormal communication)\n", + " \n", + " \n", + " Oral hairy leukoplakia\n", + " definition of HP:0025126 (Oral hairy leukoplakia)\n", + " \n", + " \n", + " A corrugated white lesion of the oral mucosa that usually occurs on the lateral or ventral surfaces of the tongue and may have a shaggy or frayed appearance.\n", + " definition of HP:0025126 (Oral hairy leukoplakia)\n", + " \n", + " \n", + " Visual gaze preference\n", + " definition of HP:0025518 (Visual gaze preference)\n", + " \n", + " \n", + " An abnormality of gaze that can be observed following an acute supranuclear cerebral lesion (e.g., stroke) that is characterized by an acute inability to direct gaze contralateral to the side of the lesion and is accompanied by a tendency for tonic deviation of the eyes toward the side of the lesion.\n", + " definition of HP:0025518 (Visual gaze preference)\n", + " \n", + " \n", + " Viral infection-induced rhabdomyolysis\n", + " definition of HP:0003558 (Viral infection-induced rhabdomyolysis)\n", + " \n", + " \n", + " Rhabdomyolysis induced by a viral infection.\n", + " definition of HP:0003558 (Viral infection-induced rhabdomyolysis)\n", + " \n", + " \n", + " Midline nasal groove\n", + " definition of HP:0004112 (Midline nasal groove)\n", + " \n", + " \n", + " An abnormal groove on the midline of the nose that may extend to the nasal tip.\n", + " definition of HP:0004112 (Midline nasal groove)\n", + " \n", + " \n", + " #Central nasal groove #Midline nasal groove\n", + " definition of HP:0004112 (Midline nasal groove)\n", + " \n", + " \n", + " Reduced isohemagglutinin level\n", + " definition of HP:0032139 (Reduced isohemagglutinin level)\n", + " \n", + " \n", + " Level of isohemagglutinin reduced below expected concentration. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person).\n", + " definition of HP:0032139 (Reduced isohemagglutinin level)\n", + " \n", + " \n", + " #Decreased natural antibody to blood group agents #Partial absence of isohemagglutinins\n", + " definition of HP:0032139 (Reduced isohemagglutinin level)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the middle phalanges of the hand\n", + " definition of HP:0009843 (Aplasia/Hypoplasia of the middle phalanges of the hand)\n", + " \n", + " \n", + " #Absent/hypoplastic middle phalanges #Absent/small middle finger bone of the hand #Absent/underdeveloped middle finger bone of the hand #Aplasia/hypoplasia of middle phalanges #Aplastic/hypoplastic middle phalanges #Hypoplastic/aplastic middle phalanx #Short to absent middle phalanges #Short/absent middle phalanges\n", + " definition of HP:0009843 (Aplasia/Hypoplasia of the middle phalanges of the hand)\n", + " \n", + " \n", + " Burning mouth\n", + " definition of HP:0032143 (Burning mouth)\n", + " \n", + " \n", + " An intense sensation of burning, scalding, or tingling feeling of the tongue or other regions of the oral mucosa.\n", + " definition of HP:0032143 (Burning mouth)\n", + " \n", + " \n", + " Long hairstyle\n", + " definition of HP:6001089 (Long hairstyle)\n", + " \n", + " \n", + " A past medical history of having long, full hair.\n", + " definition of HP:6001089 (Long hairstyle)\n", + " \n", + " \n", + " BCL2 expression\n", + " definition of HP:0430092 (BCL2 expression)\n", + " \n", + " \n", + " Detection of the presence of BCL2 on the cell(s) of interest with the use of anti-BCL2 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry).\n", + " definition of HP:0430092 (BCL2 expression)\n", + " \n", + " \n", + " Rocker bottom foot\n", + " definition of HP:0001838 (Rocker bottom foot)\n", + " \n", + " \n", + " The presence of both a prominent heel and a convex contour of the sole.\n", + " definition of HP:0001838 (Rocker bottom foot)\n", + " \n", + " \n", + " #Congenital vertical talus #Rocker bottom feet #Rocker bottom foot #Rocker-bottom feet #Rockerbottom feet\n", + " definition of HP:0001838 (Rocker bottom foot)\n", + " \n", + " \n", + " Intracranial arterial calcification\n", + " definition of HP:0031306 (Intracranial arterial calcification)\n", + " \n", + " \n", + " An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in an artery that is located within the skull (intracranial).\n", + " definition of HP:0031306 (Intracranial arterial calcification)\n", + " \n", + " \n", + " Impaired neutrophil bactericidal activity\n", + " definition of HP:0011993 (Impaired neutrophil bactericidal activity)\n", + " \n", + " \n", + " A reduction in the ability of neutrophils to kill bacteria.\n", + " definition of HP:0011993 (Impaired neutrophil bactericidal activity)\n", + " \n", + " \n", + " 2-oxoadipic aciduria\n", + " definition of HP:6000266 (2-oxoadipic aciduria)\n", + " \n", + " \n", + " The amount of 2-oxoadipic acid in the urine, normaliyed for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000266 (2-oxoadipic aciduria)\n", + " \n", + " \n", + " #Alpha-oxoadipic acid high in urine\n", + " definition of HP:6000266 (2-oxoadipic aciduria)\n", + " \n", + " \n", + " Unilateral perisylvian polymicrogyria\n", + " definition of HP:0032406 (Unilateral perisylvian polymicrogyria)\n", + " \n", + " \n", + " A type of perisylvian polymicrogyria that largely affects one side of the brain.\n", + " definition of HP:0032406 (Unilateral perisylvian polymicrogyria)\n", + " \n", + " \n", + " Focal cognitive seizure with expressive dysphasia/aphasia\n", + " definition of HP:0032702 (Focal cognitive seizure with expressive dysphasia/aphasia)\n", + " \n", + " \n", + " A focal cognitive seizure characterized by expressive dysphasia / aphasia as the initial semiological manifestation.\n", + " definition of HP:0032702 (Focal cognitive seizure with expressive dysphasia/aphasia)\n", + " \n", + " \n", + " Serrated incisors\n", + " definition of HP:0034270 (Serrated incisors)\n", + " \n", + " \n", + " Incisor teeth with irregular edges said to resemble a saw.\n", + " definition of HP:0034270 (Serrated incisors)\n", + " \n", + " \n", + " #Jagged incisors\n", + " definition of HP:0034270 (Serrated incisors)\n", + " \n", + " \n", + " Pollakisuria\n", + " definition of HP:0100515 (Pollakisuria)\n", + " \n", + " \n", + " Increased frequency of urination.\n", + " definition of HP:0100515 (Pollakisuria)\n", + " \n", + " \n", + " #Frequent urination\n", + " definition of HP:0100515 (Pollakisuria)\n", + " \n", + " \n", + " Increased urine pentacarboxylporphyrin level\n", + " definition of HP:0034906 (Increased urine pentacarboxylporphyrin level)\n", + " \n", + " \n", + " Concentration of pentacarboxylporphyrin in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:0034906 (Increased urine pentacarboxylporphyrin level)\n", + " \n", + " \n", + " #Pentacarboxylporphyrin high in urine\n", + " definition of HP:0034906 (Increased urine pentacarboxylporphyrin level)\n", + " \n", + " \n", + " Discrete intestinal polyps\n", + " definition of HP:0005238 (Discrete intestinal polyps)\n", + " \n", + " \n", + " Long philtrum\n", + " definition of HP:0000343 (Long philtrum)\n", + " \n", + " \n", + " Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.\n", + " definition of HP:0000343 (Long philtrum)\n", + " \n", + " \n", + " #Elongated philtrum #Increased height of philtrum #Increased length of philtrum #Increased vertical dimension of philtrum #Vertical hyperplasia of philtrum\n", + " definition of HP:0000343 (Long philtrum)\n", + " \n", + " \n", + " Hepatic lipid-laden macrophage infiltration\n", + " definition of HP:6000159 (Hepatic lipid-laden macrophage infiltration)\n", + " \n", + " \n", + " Accumulation of foamy cells (lipid-laden macrophages) in the parenchyma of the liver.\n", + " definition of HP:6000159 (Hepatic lipid-laden macrophage infiltration)\n", + " \n", + " \n", + " #Foamy cells on hepatic biopsy #Liver biopsy: lipid-laden macrophages\n", + " definition of HP:6000159 (Hepatic lipid-laden macrophage infiltration)\n", + " \n", + " \n", + " Embryonal renal neoplasm\n", + " definition of HP:0011794 (Embryonal renal neoplasm)\n", + " \n", + " \n", + " The presence of an embryonal neoplasm of the kidney that primarily affects children.\n", + " definition of HP:0011794 (Embryonal renal neoplasm)\n", + " \n", + " \n", + " Reduced impulse control\n", + " definition of HP:5200045 (Reduced impulse control)\n", + " \n", + " \n", + " Reduced ability to control, or a failure to resist a temptation, urge, or impulse.\n", + " definition of HP:5200045 (Reduced impulse control)\n", + " \n", + " \n", + " #Impaired self-restraint\n", + " definition of HP:5200045 (Reduced impulse control)\n", + " \n", + " \n", + " Elevated urinary 7-hydroxyoctanoic acid level\n", + " definition of HP:6000605 (Elevated urinary 7-hydroxyoctanoic acid level)\n", + " \n", + " \n", + " The amount of 7-hydroxyoctanoic acid in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000605 (Elevated urinary 7-hydroxyoctanoic acid level)\n", + " \n", + " \n", + " Chaotic multifocal atrial tachycardia\n", + " definition of HP:0011725 (Chaotic multifocal atrial tachycardia)\n", + " \n", + " \n", + " Aplasia/Hypoplasia involving the corticospinal tracts\n", + " definition of HP:0007365 (Aplasia/Hypoplasia involving the corticospinal tracts)\n", + " \n", + " \n", + " Glomerular endocapillary hypercellularity\n", + " definition of HP:0025363 (Glomerular endocapillary hypercellularity)\n", + " \n", + " \n", + " Hypercellularity due to increased number of cells within glomerular capillary lumina, causing narrowing of the lumina.\n", + " definition of HP:0025363 (Glomerular endocapillary hypercellularity)\n", + " \n", + " \n", + " #Endocapillary hypercellularity\n", + " definition of HP:0025363 (Glomerular endocapillary hypercellularity)\n", + " \n", + " \n", + " Anti-chlamydia trachomatis-specific antibody positivity\n", + " definition of HP:0430063 (Anti-chlamydia trachomatis-specific antibody positivity)\n", + " \n", + " \n", + " The presence of antibodies in the blood circulation that react against a component of chlamydia trachomatis.\n", + " definition of HP:0430063 (Anti-chlamydia trachomatis-specific antibody positivity)\n", + " \n", + " \n", + " 1-5 finger complete cutaneous syndactyly\n", + " definition of HP:0006088 (1-5 finger complete cutaneous syndactyly)\n", + " \n", + " \n", + " Unilateral\n", + " definition of HP:0012833 (Unilateral)\n", + " \n", + " \n", + " Being present on only the left or only the right side of the body.\n", + " definition of HP:0012833 (Unilateral)\n", + " \n", + " \n", + " 3-4 toe syndactyly\n", + " definition of HP:0009779 (3-4 toe syndactyly)\n", + " \n", + " \n", + " Syndactyly with fusion of toes three and four.\n", + " definition of HP:0009779 (3-4 toe syndactyly)\n", + " \n", + " \n", + " #syndactyly of 3rd - 4th toes #Webbed 3rd-4th toes\n", + " definition of HP:0009779 (3-4 toe syndactyly)\n", + " \n", + " \n", + " Decreased level of erythritol in urine\n", + " definition of HP:0410055 (Decreased level of erythritol in urine)\n", + " \n", + " \n", + " A decrease in the level of erythritol in the urine.\n", + " definition of HP:0410055 (Decreased level of erythritol in urine)\n", + " \n", + " \n", + " High insertion of columella\n", + " definition of HP:0012807 (High insertion of columella)\n", + " \n", + " \n", + " Insertion of the posterior columella superior to the nasal base.\n", + " definition of HP:0012807 (High insertion of columella)\n", + " \n", + " \n", + " #Columella, high insertion\n", + " definition of HP:0012807 (High insertion of columella)\n", + " \n", + " \n", + " Auditory sensitivity\n", + " definition of HP:0025112 (Auditory sensitivity)\n", + " \n", + " \n", + " Decreased tolerance to sound.\n", + " definition of HP:0025112 (Auditory sensitivity)\n", + " \n", + " \n", + " #Noise sensitivity\n", + " definition of HP:0025112 (Auditory sensitivity)\n", + " \n", + " \n", + " Aplasia/Hypoplasia involving the femoral head and neck\n", + " definition of HP:0009108 (Aplasia/Hypoplasia involving the femoral head and neck)\n", + " \n", + " \n", + " #Absent/small head and neck of thighbone #Absent/underdeveloped head and neck of thighbone\n", + " definition of HP:0009108 (Aplasia/Hypoplasia involving the femoral head and neck)\n", + " \n", + " \n", + " Exercise induced anaphylaxis\n", + " definition of HP:0410139 (Exercise induced anaphylaxis)\n", + " \n", + " \n", + " Anaphylaxis after physical activity.\n", + " definition of HP:0410139 (Exercise induced anaphylaxis)\n", + " \n", + " \n", + " Bilateral talipes equinovarus\n", + " definition of HP:0001776 (Bilateral talipes equinovarus)\n", + " \n", + " \n", + " Bilateral clubfoot deformity.\n", + " definition of HP:0001776 (Bilateral talipes equinovarus)\n", + " \n", + " \n", + " #Bilateral clubfeet #Bilateral clubfoot #Club foot on both sides\n", + " definition of HP:0001776 (Bilateral talipes equinovarus)\n", + " \n", + " \n", + " Mulberry molar\n", + " definition of HP:0011092 (Mulberry molar)\n", + " \n", + " \n", + " Mulberry molars are irregular teeth generally affecting the first molars and are characterized by a grossly deformed crown imitating, as the name implies, the surface of a mulberry.\n", + " definition of HP:0011092 (Mulberry molar)\n", + " \n", + " \n", + " Intranasal mass\n", + " definition of HP:6000997 (Intranasal mass)\n", + " \n", + " \n", + " An abnormal enlargement or swelling localized to the nasal cavity. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.\n", + " definition of HP:6000997 (Intranasal mass)\n", + " \n", + " \n", + " Acute kidney injury\n", + " definition of HP:0001919 (Acute kidney injury)\n", + " \n", + " \n", + " Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia).\n", + " definition of HP:0001919 (Acute kidney injury)\n", + " \n", + " \n", + " #Acute kidney failure #Acute renal failure #AKI\n", + " definition of HP:0001919 (Acute kidney injury)\n", + " \n", + " \n", + " Foot pain\n", + " definition of HP:0025238 (Foot pain)\n", + " \n", + " \n", + " An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the foot.\n", + " definition of HP:0025238 (Foot pain)\n", + " \n", + " \n", + " #Foot pain\n", + " definition of HP:0025238 (Foot pain)\n", + " \n", + " \n", + " Laryngeal stridor\n", + " definition of HP:0006511 (Laryngeal stridor)\n", + " \n", + " \n", + " An abnormal high-pitched noisy sound, occurring during inhalation or exhalation caused by the incomplete obstruction in the throat.\n", + " definition of HP:0006511 (Laryngeal stridor)\n", + " \n", + " \n", + " #Laryngeal stidor\n", + " definition of HP:0006511 (Laryngeal stridor)\n", + " \n", + " \n", + " Bowing of the vocal cords\n", + " definition of HP:0008756 (Bowing of the vocal cords)\n", + " \n", + " \n", + " Bowing (abnormal curvature) of the vocal folds.\n", + " definition of HP:0008756 (Bowing of the vocal cords)\n", + " \n", + " \n", + " Anti-phenylalanyl tRNA synthetase antibody positivity\n", + " definition of HP:0034149 (Anti-phenylalanyl tRNA synthetase antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phenylalanyl tRNA synthetase.\n", + " definition of HP:0034149 (Anti-phenylalanyl tRNA synthetase antibody positivity)\n", + " \n", + " \n", + " #Anti-Zo alpha antibody positivity #Anti-Zo antibody positivity #Phenylanyl-t-RNA synthetase alpha antibody positivity\n", + " definition of HP:0034149 (Anti-phenylalanyl tRNA synthetase antibody positivity)\n", + " \n", + " \n", + " Atypical perifissural nodule\n", + " definition of HP:0033620 (Atypical perifissural nodule)\n", + " \n", + " \n", + " A perifissural nodule that does not have contact with the interlobar septum (and is therefore considered atypical).\n", + " definition of HP:0033620 (Atypical perifissural nodule)\n", + " \n", + " \n", + " Reduced tissue phosphomannose isomerase activity\n", + " definition of HP:6000782 (Reduced tissue phosphomannose isomerase activity)\n", + " \n", + " \n", + " Activity of the mitochondrial enzyme phosphomannose isomerase (PMI; EC 5.3.1.8) in tissues below the lower limit of normal. The activity can be measured in multiple tissues including leukocytes, fibroblasts, and liver.\n", + " definition of HP:6000782 (Reduced tissue phosphomannose isomerase activity)\n", + " \n", + " \n", + " Polymorphous light eruption\n", + " definition of HP:0032379 (Polymorphous light eruption)\n", + " \n", + " \n", + " The cardinal symptom is severely pruritic skin lesions. Macular, papular, papulovesicular, urticarial, multiforme- and plaque-like variants are differentiated morphologically, hence the name polymorphous. Usually one morphology dominates in a single individual (monomorphous). The skin lesions develop a few hours to several days after sun exposure. Initially, patchy erythema develops, accompanied by pruritus. Distinct lesions then develop. The upper chest, upper arms, backs of the hands, thighs, and the sides of the face are the primary localizations. The skin lesions resolve spontaneously within several days of ceasing sun exposure and do not leave behind any traces.\n", + " definition of HP:0032379 (Polymorphous light eruption)\n", + " \n", + " \n", + " #Sun allergy\n", + " definition of HP:0032379 (Polymorphous light eruption)\n", + " \n", + " \n", + " Absent ossification of thoracic vertebral bodies\n", + " definition of HP:0012792 (Absent ossification of thoracic vertebral bodies)\n", + " \n", + " \n", + " A lack of bone mineralization of one or more body of thoracic vertebra.\n", + " definition of HP:0012792 (Absent ossification of thoracic vertebral bodies)\n", + " \n", + " \n", + " Synostosis of metacarpals/metatarsals\n", + " definition of HP:0100265 (Synostosis of metacarpals/metatarsals)\n", + " \n", + " \n", + " #Fusion of long bones of hand/long bones of foot\n", + " definition of HP:0100265 (Synostosis of metacarpals/metatarsals)\n", + " \n", + " \n", + " Transient myeloproliferative syndrome\n", + " definition of HP:0005534 (Transient myeloproliferative syndrome)\n", + " \n", + " \n", + " A unique clonal neoplastic disorder that is linked to trisomy 21, is restricted to neonatal period, and spontaneously regresses. It often has characteristics of megakaryocytic lineage and is associated with GATA1 mutations in myeloblasts.\n", + " definition of HP:0005534 (Transient myeloproliferative syndrome)\n", + " \n", + " \n", + " #TMD #Transient leukaemia of Down syndrome #Transient leukemia of Down syndrome #Transient myeloproliferative disorder\n", + " definition of HP:0005534 (Transient myeloproliferative syndrome)\n", + " \n", + " \n", + " Cortical subperiosteal resorption of humeral metaphyses\n", + " definition of HP:0003909 (Cortical subperiosteal resorption of humeral metaphyses)\n", + " \n", + " \n", + " Abnormal proportion of immature gamma-delta T cells\n", + " definition of HP:0500272 (Abnormal proportion of immature gamma-delta T cells)\n", + " \n", + " \n", + " Abnormal proportion of immature gamma-delta T cells relative to the total number of T cells.\n", + " definition of HP:0500272 (Abnormal proportion of immature gamma-delta T cells)\n", + " \n", + " \n", + " #Abnormal proportion of immature gamma-delta T lymphocytes #Abnormal proportion of immature gamma-delta T-cells #Abnormal proportion of immature gamma-delta T-lymphocytes\n", + " definition of HP:0500272 (Abnormal proportion of immature gamma-delta T cells)\n", + " \n", + " \n", + " Focal motor seizure with negative myoclonus\n", + " definition of HP:0032846 (Focal motor seizure with negative myoclonus)\n", + " \n", + " \n", + " A type of focal motor seizure characterized by a sudden interruption in normal tonic muscle activity lasting 500 ms or less, without evidence of preceding myoclonus as the initial semiological manifestation. The interruption in muscle tone is briefer than seen in a focal atonic seizure.\n", + " definition of HP:0032846 (Focal motor seizure with negative myoclonus)\n", + " \n", + " \n", + " Megalencephaly\n", + " definition of HP:0001355 (Megalencephaly)\n", + " \n", + " \n", + " Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without overlying cortical dysplasia).\n", + " definition of HP:0001355 (Megalencephaly)\n", + " \n", + " \n", + " #Macrencephaly\n", + " definition of HP:0001355 (Megalencephaly)\n", + " \n", + " \n", + " Parathormone-independent increased renal tubular calcium reabsorption\n", + " definition of HP:0003529 (Parathormone-independent increased renal tubular calcium reabsorption)\n", + " \n", + " \n", + " An increase in the reabsorption of calcium by the renal tubulus that is not associated with increased parathormone levels.\n", + " definition of HP:0003529 (Parathormone-independent increased renal tubular calcium reabsorption)\n", + " \n", + " \n", + " #Parathormone-independent increased renal tubular Ca reabsorption #Parathormone-independent increased renal tubular Ca2+ reabsorption\n", + " definition of HP:0003529 (Parathormone-independent increased renal tubular calcium reabsorption)\n", + " \n", + " \n", + " Wide proximal femoral metaphysis\n", + " definition of HP:0008783 (Wide proximal femoral metaphysis)\n", + " \n", + " \n", + " Increased width of the proximal part of the shaft (metaphysis) of the femur.\n", + " definition of HP:0008783 (Wide proximal femoral metaphysis)\n", + " \n", + " \n", + " #Wide metaphysis of innermost thighbone\n", + " definition of HP:0008783 (Wide proximal femoral metaphysis)\n", + " \n", + " \n", + " Iris hypoperfusion\n", + " definition of HP:0012635 (Iris hypoperfusion)\n", + " \n", + " \n", + " Reduction in the amount of blood flow to the iris.\n", + " definition of HP:0012635 (Iris hypoperfusion)\n", + " \n", + " \n", + " Genital tract atresia\n", + " definition of HP:0001827 (Genital tract atresia)\n", + " \n", + " \n", + " Congenital occlusion of a tube in the genital tract.\n", + " definition of HP:0001827 (Genital tract atresia)\n", + " \n", + " \n", + " Musculotendinous retraction\n", + " definition of HP:0031462 (Musculotendinous retraction)\n", + " \n", + " \n", + " Abnormal reduction in length of a tendon which tends to pull (retract) the attached muscle tissue with shortening of the muscle fibers often accompanied by atrophy and fatty degeneration of the affected muscle tissue.\n", + " definition of HP:0031462 (Musculotendinous retraction)\n", + " \n", + " \n", + " Broad middle phalanx of finger\n", + " definition of HP:0009844 (Broad middle phalanx of finger)\n", + " \n", + " \n", + " Increased width of the middle phalanx of finger.\n", + " definition of HP:0009844 (Broad middle phalanx of finger)\n", + " \n", + " \n", + " #Broad middle finger bones #Broad middle phalanges of finger #Broad middle phalanges of the hand\n", + " definition of HP:0009844 (Broad middle phalanx of finger)\n", + " \n", + " \n", + " Giant cell hepatitis\n", + " definition of HP:0200084 (Giant cell hepatitis)\n", + " \n", + " \n", + " Chronic hepatitis characterized by parenchymal inflammation with formation of large multinucleated hepatocytes in response to a variety of insults to the liver.\n", + " definition of HP:0200084 (Giant cell hepatitis)\n", + " \n", + " \n", + " Abnormal eating behavior\n", + " definition of HP:0100738 (Abnormal eating behavior)\n", + " \n", + " \n", + " Abnormal eating habits involve excessive or insufficient consumption of food, or any other abnormal pattern of food consumption.\n", + " definition of HP:0100738 (Abnormal eating behavior)\n", + " \n", + " \n", + " #Abnormal eating behavior #Abnormal eating behaviour\n", + " definition of HP:0100738 (Abnormal eating behavior)\n", + " \n", + " \n", + " Abnormal nostril morphology\n", + " definition of HP:0005288 (Abnormal nostril morphology)\n", + " \n", + " \n", + " Abnormality of the nostril.\n", + " definition of HP:0005288 (Abnormal nostril morphology)\n", + " \n", + " \n", + " #Abnormal naris morphology #Abnormality of the nares #Abnormality of the nostrils #Anomaly of the nares\n", + " definition of HP:0005288 (Abnormal nostril morphology)\n", + " \n", + " \n", + " Hydrops fetalis\n", + " definition of HP:0001789 (Hydrops fetalis)\n", + " \n", + " \n", + " The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.\n", + " definition of HP:0001789 (Hydrops fetalis)\n", + " \n", + " \n", + " Abnormal urinary hypoxanthine level\n", + " definition of HP:0040425 (Abnormal urinary hypoxanthine level)\n", + " \n", + " \n", + " The concentration of hypoxanthine in the urine, normalized for urine concentration, is outside of normal limits.\n", + " definition of HP:0040425 (Abnormal urinary hypoxanthine level)\n", + " \n", + " \n", + " Abnormal circulating estrogen level\n", + " definition of HP:0025132 (Abnormal circulating estrogen level)\n", + " \n", + " \n", + " A deviation from normal concentration of the hormone estrogen in the blood circulation.\n", + " definition of HP:0025132 (Abnormal circulating estrogen level)\n", + " \n", + " \n", + " #Abnormal circulating estrogen level #Abnormal estrogen level #Abnormal oestrogen level\n", + " definition of HP:0025132 (Abnormal circulating estrogen level)\n", + " \n", + " \n", + " Hairshafts with longitudinal grooves\n", + " definition of HP:0034542 (Hairshafts with longitudinal grooves)\n", + " \n", + " \n", + " Long narrow depressions running lengthwise in hairshafts. This feature can be appreciated by scanning electron microsopy.\n", + " definition of HP:0034542 (Hairshafts with longitudinal grooves)\n", + " \n", + " \n", + " Abnormality of the distal phalanx of the 2nd toe\n", + " definition of HP:0010356 (Abnormality of the distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Abnormality of the outermost bone of the 2nd toe\n", + " definition of HP:0010356 (Abnormality of the distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Parkinsonism\n", + " definition of HP:0001300 (Parkinsonism)\n", + " \n", + " \n", + " Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.\n", + " definition of HP:0001300 (Parkinsonism)\n", + " \n", + " \n", + " Flaring of rib cage\n", + " definition of HP:0000904 (Flaring of rib cage)\n", + " \n", + " \n", + " The presence of wide, concave anterior rib ends.\n", + " definition of HP:0000904 (Flaring of rib cage)\n", + " \n", + " \n", + " #Anterior flaring of ribs #Flaring of rib cage\n", + " definition of HP:0000904 (Flaring of rib cage)\n", + " \n", + " \n", + " Visual impairment\n", + " definition of HP:0000505 (Visual impairment)\n", + " \n", + " \n", + " Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.\n", + " definition of HP:0000505 (Visual impairment)\n", + " \n", + " \n", + " #Impaired vision #Loss of eyesight #Poor vision #Visual impairment\n", + " definition of HP:0000505 (Visual impairment)\n", + " \n", + " \n", + " Malrotation of colon\n", + " definition of HP:0004785 (Malrotation of colon)\n", + " \n", + " \n", + " An anatomical anomaly that results from an abnormal rotation of the gut as it returns to the abdominal cavity during embryogenesis.\n", + " definition of HP:0004785 (Malrotation of colon)\n", + " \n", + " \n", + " Decreased plasma free carnitine\n", + " definition of HP:0008315 (Decreased plasma free carnitine)\n", + " \n", + " \n", + " A decreased concentration of free (unbound) carnitine in the blood.\n", + " definition of HP:0008315 (Decreased plasma free carnitine)\n", + " \n", + " \n", + " Abnormal HDL3b concentration\n", + " definition of HP:0032426 (Abnormal HDL3b concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm.\n", + " definition of HP:0032426 (Abnormal HDL3b concentration)\n", + " \n", + " \n", + " Corner fracture of metaphysis\n", + " definition of HP:0003908 (Corner fracture of metaphysis)\n", + " \n", + " \n", + " Fracture or fragmentation at the lateral portion of the metaphysis of a long bone. The radiographic appearance is that of a small corner of metaphysis separated from the metaphyseal edge by thin linear radiolucency. This feature can be observed in child abuse but fragmented appearance of the metaphysis or facture-like lesions can also be detected in the setting of certain skeletal dysplasias.\n", + " definition of HP:0003908 (Corner fracture of metaphysis)\n", + " \n", + " \n", + " #Bucket handle fracture #Metaphyseal corner fracture\n", + " definition of HP:0003908 (Corner fracture of metaphysis)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the palmar creases\n", + " definition of HP:0010488 (Aplasia/Hypoplasia of the palmar creases)\n", + " \n", + " \n", + " Absence or underdevelopment of the palmar creases.\n", + " definition of HP:0010488 (Aplasia/Hypoplasia of the palmar creases)\n", + " \n", + " \n", + " #Absent/small palm crease #Absent/underdeveloped palm crease\n", + " definition of HP:0010488 (Aplasia/Hypoplasia of the palmar creases)\n", + " \n", + " \n", + " Peripheral axonal neuropathy\n", + " definition of HP:0003477 (Peripheral axonal neuropathy)\n", + " \n", + " \n", + " An abnormality characterized by disruption of the normal functioning of peripheral axons.\n", + " definition of HP:0003477 (Peripheral axonal neuropathy)\n", + " \n", + " \n", + " #Axonal neuropathy #Axonal peripheral neuropathy\n", + " definition of HP:0003477 (Peripheral axonal neuropathy)\n", + " \n", + " \n", + " Partial duplication of the distal phalanx of the 4th toe\n", + " definition of HP:0100417 (Partial duplication of the distal phalanx of the 4th toe)\n", + " \n", + " \n", + " Partial duplication of the distal phalanx of fourth toe.\n", + " definition of HP:0100417 (Partial duplication of the distal phalanx of the 4th toe)\n", + " \n", + " \n", + " #Partial duplication of the distal phalanx of the fourth toe #Partial duplication of the outermost bone of the fourth toe\n", + " definition of HP:0100417 (Partial duplication of the distal phalanx of the 4th toe)\n", + " \n", + " \n", + " Pinhole visual acuity 3.0 LogMAR\n", + " definition of HP:0030583 (Pinhole visual acuity 3.0 LogMAR)\n", + " \n", + " \n", + " Abnormal mandibular symphysis morphology\n", + " definition of HP:3000079 (Abnormal mandibular symphysis morphology)\n", + " \n", + " \n", + " A structural abnormality of a mandibular symphysis.\n", + " definition of HP:3000079 (Abnormal mandibular symphysis morphology)\n", + " \n", + " \n", + " #Abnormality of mandible symphysis\n", + " definition of HP:3000079 (Abnormal mandibular symphysis morphology)\n", + " \n", + " \n", + " Proximal aortic arch hypoplasia\n", + " definition of HP:0034228 (Proximal aortic arch hypoplasia)\n", + " \n", + " \n", + " A type of aortic arch hypoplasia whereby the proximal aortic arch (arch proximal to the origin of the left subclavian artery) has a diameter of less than 60% of the diameter of the ascending aorta.\n", + " definition of HP:0034228 (Proximal aortic arch hypoplasia)\n", + " \n", + " \n", + " Peripapillary atrophy\n", + " definition of HP:0500087 (Peripapillary atrophy)\n", + " \n", + " \n", + " Thinning in the layers of the retina and retinal pigment epithelium around the optic nerve.\n", + " definition of HP:0500087 (Peripapillary atrophy)\n", + " \n", + " \n", + " Normal-density transverse humeral bands\n", + " definition of HP:0003916 (Normal-density transverse humeral bands)\n", + " \n", + " \n", + " Sensory hyposensitivity unexplained by sensory deficit\n", + " definition of HP:5200059 (Sensory hyposensitivity unexplained by sensory deficit)\n", + " \n", + " \n", + " Increased tolerance to sensory stimuli due to diminished sensory ability.\n", + " definition of HP:5200059 (Sensory hyposensitivity unexplained by sensory deficit)\n", + " \n", + " \n", + " Mitochondrial malic enzyme reduced\n", + " definition of HP:0003232 (Mitochondrial malic enzyme reduced)\n", + " \n", + " \n", + " #Decreased mitochondrial malic enzyme\n", + " definition of HP:0003232 (Mitochondrial malic enzyme reduced)\n", + " \n", + " \n", + " Fetal hydrothorax\n", + " definition of HP:0025678 (Fetal hydrothorax)\n", + " \n", + " \n", + " Accumulation of lymphatic fluid in the pleural space. This finding is usually observed by prenatal sonography. Once neonatal feeding is established and the lymphatic fluid contains chyle, transformation to chylothorax may be observed.\n", + " definition of HP:0025678 (Fetal hydrothorax)\n", + " \n", + " \n", + " Thumbs hypoplastic with bulbous tips\n", + " definition of HP:0005726 (Thumbs hypoplastic with bulbous tips)\n", + " \n", + " \n", + " #Short thumbs with bulbous tips\n", + " definition of HP:0005726 (Thumbs hypoplastic with bulbous tips)\n", + " \n", + " \n", + " Osseous finger syndactyly\n", + " definition of HP:0010492 (Osseous finger syndactyly)\n", + " \n", + " \n", + " Webbing or fusion of the fingers, involving soft parts and including fusion of individual finger bones.\n", + " definition of HP:0010492 (Osseous finger syndactyly)\n", + " \n", + " \n", + " #Osseous syndactyly of the fingers\n", + " definition of HP:0010492 (Osseous finger syndactyly)\n", + " \n", + " \n", + " Hypoplastic frontal sinuses\n", + " definition of HP:0002738 (Hypoplastic frontal sinuses)\n", + " \n", + " \n", + " Underdevelopment of frontal sinus.\n", + " definition of HP:0002738 (Hypoplastic frontal sinuses)\n", + " \n", + " \n", + " #Decreased volume of frontal sinuses #Small frontal sinuses #Underdeveloped frontal sinuses\n", + " definition of HP:0002738 (Hypoplastic frontal sinuses)\n", + " \n", + " \n", + " 10-minute APGAR score of 3\n", + " definition of HP:0033471 (10-minute APGAR score of 3)\n", + " \n", + " \n", + " Spoken word recognition deficit\n", + " definition of HP:0030391 (Spoken word recognition deficit)\n", + " \n", + " \n", + " Reduced ability of lexical discrimination, which refers to the process of distinguishing a stimulus word from other phonologically similar words. Lexical discrimination can be defined as the process of correctly identifying words in the mental lexicon to match the phonological input of a stimulus.\n", + " definition of HP:0030391 (Spoken word recognition deficit)\n", + " \n", + " \n", + " Impaired visually enhanced vestibulo-ocular reflex\n", + " definition of HP:0030183 (Impaired visually enhanced vestibulo-ocular reflex)\n", + " \n", + " \n", + " The vestibulo-ocular reflex is responsible for the stabilization of the retinal image during movement. The visual vestibular ocular reflex (VVOR) or visual enhanced VOR, maintains ocular stability during head motion by generating compensatory eye movement opposite to head movement, and is a major component of visual vestibular interaction. This feature is an impairment of this reflex, manifested as the combined impairment of the three compensatory eye movement reflexes, namely the vestibulo-ocular reflex (VOR), smooth pursuit (SP) and optokinetic reflex (OKR).\n", + " definition of HP:0030183 (Impaired visually enhanced vestibulo-ocular reflex)\n", + " \n", + " \n", + " #Visually enhanced vestibulo-ocular reflex impairment #VVOR impairment\n", + " definition of HP:0030183 (Impaired visually enhanced vestibulo-ocular reflex)\n", + " \n", + " \n", + " Triangular epiphysis of the middle phalanx of the 4th toe\n", + " definition of HP:0100190 (Triangular epiphysis of the middle phalanx of the 4th toe)\n", + " \n", + " \n", + " #Triangular end part of the middle bone of the 4th toe\n", + " definition of HP:0100190 (Triangular epiphysis of the middle phalanx of the 4th toe)\n", + " \n", + " \n", + " Abnormality of lysosomal metabolism\n", + " definition of HP:0004356 (Abnormality of lysosomal metabolism)\n", + " \n", + " \n", + " Esophageal atresia\n", + " definition of HP:0002032 (Esophageal atresia)\n", + " \n", + " \n", + " A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach.\n", + " definition of HP:0002032 (Esophageal atresia)\n", + " \n", + " \n", + " #Birth defect in which part of esophagus did not develop #Birth defect in which part of oesophagus did not develop\n", + " definition of HP:0002032 (Esophageal atresia)\n", + " \n", + " \n", + " 5-fluorouracil exposure\n", + " definition of HP:4000135 (5-fluorouracil exposure)\n", + " \n", + " \n", + " History of having been treated with 5-fluorouracil.\n", + " definition of HP:4000135 (5-fluorouracil exposure)\n", + " \n", + " \n", + " Diminished tissue alpha-L-iduronidase activity\n", + " definition of HP:6000910 (Diminished tissue alpha-L-iduronidase activity)\n", + " \n", + " \n", + " Concentration or activity of alpha-L-iduronidase (IDUA; EC 3.2.1.76) below the lower limit of normal. FECH enzyme can be measured in multiple tissues including cultured fibroblasts and leukocytes.\n", + " definition of HP:6000910 (Diminished tissue alpha-L-iduronidase activity)\n", + " \n", + " \n", + " Reduced circulating alpha-L-fucosidase activity\n", + " definition of HP:0034727 (Reduced circulating alpha-L-fucosidase activity)\n", + " \n", + " \n", + " Activity of the enzyme alpha-L-fucosidase below the lower limit of normal.\n", + " definition of HP:0034727 (Reduced circulating alpha-L-fucosidase activity)\n", + " \n", + " \n", + " Abnormal amniotic fluid protein concentration\n", + " definition of HP:0034899 (Abnormal amniotic fluid protein concentration)\n", + " \n", + " \n", + " Any deviation of the concentration of a protein in the amniotic fluid from normal limits\n", + " definition of HP:0034899 (Abnormal amniotic fluid protein concentration)\n", + " \n", + " \n", + " Abnormal pineal melatonin secretion\n", + " definition of HP:0012689 (Abnormal pineal melatonin secretion)\n", + " \n", + " \n", + " An anomaly in the amount or timing of melatonin secretion by the pineal gland. Note that melatonin is also synthesized by multiple tissues outside of the pineal gland.\n", + " definition of HP:0012689 (Abnormal pineal melatonin secretion)\n", + " \n", + " \n", + " Fragmentation of the epiphysis of the middle phalanx of the 4th finger\n", + " definition of HP:0009218 (Fragmentation of the epiphysis of the middle phalanx of the 4th finger)\n", + " \n", + " \n", + " Fragmented appearance of the epiphysis of the middle phalanx of the 4th finger.\n", + " definition of HP:0009218 (Fragmentation of the epiphysis of the middle phalanx of the 4th finger)\n", + " \n", + " \n", + " #Fragmentation of end part of the middle bone of the ring finger\n", + " definition of HP:0009218 (Fragmentation of the epiphysis of the middle phalanx of the 4th finger)\n", + " \n", + " \n", + " Sarcoma\n", + " definition of HP:0100242 (Sarcoma)\n", + " \n", + " \n", + " A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant.\n", + " definition of HP:0100242 (Sarcoma)\n", + " \n", + " \n", + " #Cancer of connective tissue #Malignant connective tissue tumor #Malignant connective tissue tumour\n", + " definition of HP:0100242 (Sarcoma)\n", + " \n", + " \n", + " Generalized distal tubular acidosis\n", + " definition of HP:0004916 (Generalized distal tubular acidosis)\n", + " \n", + " \n", + " #Generalised distal tubular acidosis\n", + " definition of HP:0004916 (Generalized distal tubular acidosis)\n", + " \n", + " \n", + " Scapuloperoneal amyotrophy\n", + " definition of HP:0003697 (Scapuloperoneal amyotrophy)\n", + " \n", + " \n", + " Muscular atrophy in the distribution of shoulder girdle and peroneal muscles.\n", + " definition of HP:0003697 (Scapuloperoneal amyotrophy)\n", + " \n", + " \n", + " #Scapuloperoneal atrophy\n", + " definition of HP:0003697 (Scapuloperoneal amyotrophy)\n", + " \n", + " \n", + " Tarlov cyst\n", + " definition of HP:0025643 (Tarlov cyst)\n", + " \n", + " \n", + " A cerebrospinal fluid-filled nerve root cyst most often localized in the sacral spine.\n", + " definition of HP:0025643 (Tarlov cyst)\n", + " \n", + " \n", + " #Perineural cyst\n", + " definition of HP:0025643 (Tarlov cyst)\n", + " \n", + " \n", + " Abnormal timing of light-adapted flicker electroretinogram\n", + " definition of HP:0030480 (Abnormal timing of light-adapted flicker electroretinogram)\n", + " \n", + " \n", + " Crescentic glomerulonephritis\n", + " definition of HP:0008653 (Crescentic glomerulonephritis)\n", + " \n", + " \n", + " A type of extracapillary glomerulonephritis characterized by the formation of crescent-like cellular proliferation.\n", + " definition of HP:0008653 (Crescentic glomerulonephritis)\n", + " \n", + " \n", + " Irregular epiphysis of the middle phalanx of the 2nd finger\n", + " definition of HP:0009518 (Irregular epiphysis of the middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Irregular end part of the middle long bone of the index finger\n", + " definition of HP:0009518 (Irregular epiphysis of the middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " Wrist drop\n", + " definition of HP:0031189 (Wrist drop)\n", + " \n", + " \n", + " A condition in which the affected individual cannot extend the wrist, which hangs flaccidly.\n", + " definition of HP:0031189 (Wrist drop)\n", + " \n", + " \n", + " Breast mass\n", + " definition of HP:0032408 (Breast mass)\n", + " \n", + " \n", + " A breast lump is any discrete mass in a breast noticed by the patient, significant other, or physician.\n", + " definition of HP:0032408 (Breast mass)\n", + " \n", + " \n", + " #Breast lump\n", + " definition of HP:0032408 (Breast mass)\n", + " \n", + " \n", + " Chorioretinal dystrophy\n", + " definition of HP:0001135 (Chorioretinal dystrophy)\n", + " \n", + " \n", + " Inattentiveness illusion\n", + " definition of HP:5200207 (Inattentiveness illusion)\n", + " \n", + " \n", + " Instances in which individuals fail to perceive or notice salient or significant stimuli in their visual field due to a lack of attention.\n", + " definition of HP:5200207 (Inattentiveness illusion)\n", + " \n", + " \n", + " Abnormality of the Leydig cells\n", + " definition of HP:0010789 (Abnormality of the Leydig cells)\n", + " \n", + " \n", + " Peripheral demyelination\n", + " definition of HP:0011096 (Peripheral demyelination)\n", + " \n", + " \n", + " A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.\n", + " definition of HP:0011096 (Peripheral demyelination)\n", + " \n", + " \n", + " #Demyelination\n", + " definition of HP:0011096 (Peripheral demyelination)\n", + " \n", + " \n", + " Axonal spheroids\n", + " definition of HP:6000717 (Axonal spheroids)\n", + " \n", + " \n", + " During neurodegeneration, bubble-like swellings form along the length of the axon, a primary and early effect of dynamic axonal deformation. These varicosities, spheroids, or swellings have been described as beads on a string and branches bearing fruit, and they frequently appear on degenerating axons.\n", + " definition of HP:6000717 (Axonal spheroids)\n", + " \n", + " \n", + " Hyperpigmentation of the skin\n", + " definition of HP:0000953 (Hyperpigmentation of the skin)\n", + " \n", + " \n", + " A darkening of the skin related to an increase in melanin production and deposition.\n", + " definition of HP:0000953 (Hyperpigmentation of the skin)\n", + " \n", + " \n", + " #Cutaneous hyperpigmentation #Hyperpigmented lesion #Increased skin pigmentation #Patchy darkened skin #Skin hyperpigmentation\n", + " definition of HP:0000953 (Hyperpigmentation of the skin)\n", + " \n", + " \n", + " Abnormal sex determination\n", + " definition of HP:0012244 (Abnormal sex determination)\n", + " \n", + " \n", + " Anomaly of primary or secondary sexual development or characteristics.\n", + " definition of HP:0012244 (Abnormal sex determination)\n", + " \n", + " \n", + " Eclabion\n", + " definition of HP:0012472 (Eclabion)\n", + " \n", + " \n", + " A turning outward of the lip or lips, that is, eversion of the lips.\n", + " definition of HP:0012472 (Eclabion)\n", + " \n", + " \n", + " #Eclabium #Everted lips #Outward turned lips\n", + " definition of HP:0012472 (Eclabion)\n", + " \n", + " \n", + " Pes valgus\n", + " definition of HP:0008081 (Pes valgus)\n", + " \n", + " \n", + " An outward deviation of the foot at the talocalcaneal or subtalar joint.\n", + " definition of HP:0008081 (Pes valgus)\n", + " \n", + " \n", + " #Valgus foot deformity\n", + " definition of HP:0008081 (Pes valgus)\n", + " \n", + " \n", + " Atypical scarring of skin\n", + " definition of HP:0000987 (Atypical scarring of skin)\n", + " \n", + " \n", + " Atypically scarred skin .\n", + " definition of HP:0000987 (Atypical scarring of skin)\n", + " \n", + " \n", + " #Atypical scarring #Atypical scarring of skin\n", + " definition of HP:0000987 (Atypical scarring of skin)\n", + " \n", + " \n", + " Decreased activity of the pyruvate dehydrogenase complex\n", + " definition of HP:0002928 (Decreased activity of the pyruvate dehydrogenase complex)\n", + " \n", + " \n", + " #Decreased activity of the PDH complex #Pyruvate dehydrogenase complex deficiency\n", + " definition of HP:0002928 (Decreased activity of the pyruvate dehydrogenase complex)\n", + " \n", + " \n", + " Partially accomodative esotropia\n", + " definition of HP:0031765 (Partially accomodative esotropia)\n", + " \n", + " \n", + " A form of constant esotropia in which the angle of deviation is partially affected by accommodative effort. Typically there is esotropia at near and distance with hypermetropic correction and the angle of deviation increases without glasses.\n", + " definition of HP:0031765 (Partially accomodative esotropia)\n", + " \n", + " \n", + " #Constant esotropia with an accommodative component #Constant esotropia with an accommodative element\n", + " definition of HP:0031765 (Partially accomodative esotropia)\n", + " \n", + " \n", + " Abnormality of dorsoventral patterning of the limbs\n", + " definition of HP:0100270 (Abnormality of dorsoventral patterning of the limbs)\n", + " \n", + " \n", + " An abnormality resulting from a defect or disruption of dorsoventral patterning that normally happens during early development of the limbs. A disruption of the normal development of the dorsoventral axis may lead to a variable spectrum of different phenotypic abnormalities that may affect the nails and or palmar and dorsal side of the hands and/or feet, ultimately changing the normal dorsoventral appearance of the affected limbs.\n", + " definition of HP:0100270 (Abnormality of dorsoventral patterning of the limbs)\n", + " \n", + " \n", + " Abnormal cardiomyocyte connexin43 staining\n", + " definition of HP:0031337 (Abnormal cardiomyocyte connexin43 staining)\n", + " \n", + " \n", + " Anomalous staining of Connexin43 in cardiomyocytes. Connexin43 (Cx43) is the primary gap junction protein in the working myocardium. Cx43 exhibits increased localization at the lateral membranes of cardiomyocytes in a variety of heart diseases.\n", + " definition of HP:0031337 (Abnormal cardiomyocyte connexin43 staining)\n", + " \n", + " \n", + " Increased mitochondrial number\n", + " definition of HP:0040014 (Increased mitochondrial number)\n", + " \n", + " \n", + " Elevated circulating soluble FASL concentration\n", + " definition of HP:6000017 (Elevated circulating soluble FASL concentration)\n", + " \n", + " \n", + " The concentration of soluble FASL in the blood circulation is above the upper limit of normal. The first apoptosis signal receptor (FAS) pathway regulates apoptosis and is critical for proper development and functioning of the immune system. FAS ligand (FASL) can bind to FAS receptors.\n", + " definition of HP:6000017 (Elevated circulating soluble FASL concentration)\n", + " \n", + " \n", + " Hyperchloremic metabolic acidosis\n", + " definition of HP:0004918 (Hyperchloremic metabolic acidosis)\n", + " \n", + " \n", + " A form of metabolic acidosis with increased serum chloride levels.\n", + " definition of HP:0004918 (Hyperchloremic metabolic acidosis)\n", + " \n", + " \n", + " #Non-gap acidosis\n", + " definition of HP:0004918 (Hyperchloremic metabolic acidosis)\n", + " \n", + " \n", + " Aplasia cutis congenita\n", + " definition of HP:0001057 (Aplasia cutis congenita)\n", + " \n", + " \n", + " A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs.\n", + " definition of HP:0001057 (Aplasia cutis congenita)\n", + " \n", + " \n", + " #Absence of part of skin at birth #Congenital absence of skin #Cutis aplasia\n", + " definition of HP:0001057 (Aplasia cutis congenita)\n", + " \n", + " \n", + " Glomerular parietal epithelial cell hypertrophy\n", + " definition of HP:0033225 (Glomerular parietal epithelial cell hypertrophy)\n", + " \n", + " \n", + " An abnormality of the glomerular parietal epithelial cells characterized by (1) Increased parietal epithelial cell size, with or without cytoplasmic protein droplets; or (2) enlarged nuclei with prominent nucleoli. Both features can be present\n", + " definition of HP:0033225 (Glomerular parietal epithelial cell hypertrophy)\n", + " \n", + " \n", + " #Hypertrophy of the glomerular parietal epithelial cell\n", + " definition of HP:0033225 (Glomerular parietal epithelial cell hypertrophy)\n", + " \n", + " \n", + " Atrophic superior cerebellar peduncle\n", + " definition of HP:0030286 (Atrophic superior cerebellar peduncle)\n", + " \n", + " \n", + " Atrophy of the superior cerebellar peduncle.\n", + " definition of HP:0030286 (Atrophic superior cerebellar peduncle)\n", + " \n", + " \n", + " Frequent Giardia lamblia infestation\n", + " definition of HP:0005215 (Frequent Giardia lamblia infestation)\n", + " \n", + " \n", + " Increased susceptibility to Giardia lamblia infection of the intestine, as manifested by a medical history of multiple episodes of Giardia lamblia intestinal infection.\n", + " definition of HP:0005215 (Frequent Giardia lamblia infestation)\n", + " \n", + " \n", + " Duffy blood group\n", + " definition of HP:0032373 (Duffy blood group)\n", + " \n", + " \n", + " The Duffy blood group system is based on the presence of a glycoprotein termed Fy that is on the surface of erythrocytes and some other cells. There are two Duffy antigens named Fya and Fyb, and thus there are four Duffy phenotypes: a+b+, a+b-, a-b+,a-b-.\n", + " definition of HP:0032373 (Duffy blood group)\n", + " \n", + " \n", + " Anterior encephalocele\n", + " definition of HP:0007035 (Anterior encephalocele)\n", + " \n", + " \n", + " A type of congenital malformation in which brain tissue protrudes through a defect in the anterior (front) part of the skull.\n", + " definition of HP:0007035 (Anterior encephalocele)\n", + " \n", + " \n", + " #Sincipital encephalocele\n", + " definition of HP:0007035 (Anterior encephalocele)\n", + " \n", + " \n", + " Anti-neurexin-3alpha antibody positivity\n", + " definition of HP:5000026 (Anti-neurexin-3alpha antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neurexin-3alpha.\n", + " definition of HP:5000026 (Anti-neurexin-3alpha antibody positivity)\n", + " \n", + " \n", + " #Anti-neurexin-3alpha antibody\n", + " definition of HP:5000026 (Anti-neurexin-3alpha antibody positivity)\n", + " \n", + " \n", + " Dyspepsia\n", + " definition of HP:0410281 (Dyspepsia)\n", + " \n", + " \n", + " A heterogeneous group of symptoms that are localized in the epigastric region. Typical dyspeptic symptoms include postprandial fullness, early satiation, epigastric pain and epigastric burning, but other upper gastrointestinal symptoms such as nausea, belching or abdominal bloating often occur.\n", + " definition of HP:0410281 (Dyspepsia)\n", + " \n", + " \n", + " #Indigestion\n", + " definition of HP:0410281 (Dyspepsia)\n", + " \n", + " \n", + " Poor recognition of injustice\n", + " definition of HP:5200117 (Poor recognition of injustice)\n", + " \n", + " \n", + " Widening of cervical spinal canal\n", + " definition of HP:0004571 (Widening of cervical spinal canal)\n", + " \n", + " \n", + " Beaten bronze macular sheen\n", + " definition of HP:0025147 (Beaten bronze macular sheen)\n", + " \n", + " \n", + " A shiny appearance of the macula, which is often called a beaten bronze appearance.\n", + " definition of HP:0025147 (Beaten bronze macular sheen)\n", + " \n", + " \n", + " #Beaten metal macular appearance #Beaten-bronze macular appearance #Beaten-bronze macular sheen\n", + " definition of HP:0025147 (Beaten bronze macular sheen)\n", + " \n", + " \n", + " Elevated circulating stearoylcarnitine concentration\n", + " definition of HP:0033381 (Elevated circulating stearoylcarnitine concentration)\n", + " \n", + " \n", + " Abnormally increased concentration of O-stearoylcarnitine in the blood circulation.\n", + " definition of HP:0033381 (Elevated circulating stearoylcarnitine concentration)\n", + " \n", + " \n", + " #Elevated circulating C18:0 acylcarnitine concentration\n", + " definition of HP:0033381 (Elevated circulating stearoylcarnitine concentration)\n", + " \n", + " \n", + " Increased CSF lactate\n", + " definition of HP:0002490 (Increased CSF lactate)\n", + " \n", + " \n", + " Increased concentration of lactate in the cerebrospinal fluid.\n", + " definition of HP:0002490 (Increased CSF lactate)\n", + " \n", + " \n", + " #Hyperlactatorachia #Increased cerebrospinal fluid lactate #Increased CSF lactic acid\n", + " definition of HP:0002490 (Increased CSF lactate)\n", + " \n", + " \n", + " Short proximal phalanx of the 5th toe\n", + " definition of HP:0100397 (Short proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " Developmental hypoplasia of the proximal phalanx of fifth toe.\n", + " definition of HP:0100397 (Short proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " #Hypoplastic/small proximal phalanx of the 5th toe #Short innermost bone of little toe #Short innermost bone of pinkie toe #Short innermost bone of pinky toe #Short proximal phalanx of the fifth toe\n", + " definition of HP:0100397 (Short proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " Upper limb asymmetry\n", + " definition of HP:0100560 (Upper limb asymmetry)\n", + " \n", + " \n", + " Difference in length or size between the right and left arm.\n", + " definition of HP:0100560 (Upper limb asymmetry)\n", + " \n", + " \n", + " #Unequal size of arms\n", + " definition of HP:0100560 (Upper limb asymmetry)\n", + " \n", + " \n", + " Pterygium\n", + " definition of HP:0001059 (Pterygium)\n", + " \n", + " \n", + " Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits.\n", + " definition of HP:0001059 (Pterygium)\n", + " \n", + " \n", + " #Pterygia\n", + " definition of HP:0001059 (Pterygium)\n", + " \n", + " \n", + " Vaginal fistula\n", + " definition of HP:0004320 (Vaginal fistula)\n", + " \n", + " \n", + " The presence of a fistula of the vagina.\n", + " definition of HP:0004320 (Vaginal fistula)\n", + " \n", + " \n", + " Fused labia majora\n", + " definition of HP:0025486 (Fused labia majora)\n", + " \n", + " \n", + " The outer labia are sealed together.\n", + " definition of HP:0025486 (Fused labia majora)\n", + " \n", + " \n", + " Epiphora\n", + " definition of HP:0009926 (Epiphora)\n", + " \n", + " \n", + " Abnormally increased lacrimation, that is, excessive tearing (watering eye).\n", + " definition of HP:0009926 (Epiphora)\n", + " \n", + " \n", + " #Increased lacrimation #Increased tears #Tearing #Watery eyes\n", + " definition of HP:0009926 (Epiphora)\n", + " \n", + " \n", + " Ameliorated by thiamine\n", + " definition of HP:0034538 (Ameliorated by thiamine)\n", + " \n", + " \n", + " Applies to a sign or symptom that is improved or made more bearable by treatment with thiamine.\n", + " definition of HP:0034538 (Ameliorated by thiamine)\n", + " \n", + " \n", + " #Thiamine: positive response\n", + " definition of HP:0034538 (Ameliorated by thiamine)\n", + " \n", + " \n", + " Gastrocnemius contracture\n", + " definition of HP:6000366 (Gastrocnemius contracture)\n", + " \n", + " \n", + " Limitation of simultaneous ankle dorsiflexion and knee extension during mid-stance of gait.\n", + " definition of HP:6000366 (Gastrocnemius contracture)\n", + " \n", + " \n", + " Episodic eosinophilia\n", + " definition of HP:0032151 (Episodic eosinophilia)\n", + " \n", + " \n", + " Recurrent episodes of marked eosinophilia that resolve spontaneously.\n", + " definition of HP:0032151 (Episodic eosinophilia)\n", + " \n", + " \n", + " Bone marrow myeloid vacuolization\n", + " definition of HP:0034636 (Bone marrow myeloid vacuolization)\n", + " \n", + " \n", + " Formation of vacuoles (a space within a cell that is empty of cytoplasm, lined with a membrane, and filled with fluid) in the cytoplasm of myeloid precursors in the bone marrow.\n", + " definition of HP:0034636 (Bone marrow myeloid vacuolization)\n", + " \n", + " \n", + " #Bone marrow: myeloid vacuolization #Vacuolization of bone marrow myeloid precursors\n", + " definition of HP:0034636 (Bone marrow myeloid vacuolization)\n", + " \n", + " \n", + " Facial expressions that do not match the context\n", + " definition of HP:4000088 (Facial expressions that do not match the context)\n", + " \n", + " \n", + " Production of facial expressions that are misaligned with the social context.\n", + " definition of HP:4000088 (Facial expressions that do not match the context)\n", + " \n", + " \n", + " Bronchocele\n", + " definition of HP:0033653 (Bronchocele)\n", + " \n", + " \n", + " A bronchocele is bronchial dilatation due to retained secretions (mucoid impaction) usually caused by proximal obstruction, either congenital (eg, bronchial atresia) or acquired (eg, obstructing cancer). A bronchocele is a tubular or branching Y-or V-shaped structure that may resemble a gloved finger. The CT attenuation of the mucus is generally that of soft tissue but may be modified by its composition (eg, high-attenuation material in allergic bronchopulmonary aspergillosis). In the case of bronchial atresia, the surrounding lung may be of decreased attenuation because of reduced ventilation and, thus, perfusion.\n", + " definition of HP:0033653 (Bronchocele)\n", + " \n", + " \n", + " Dichromacy\n", + " definition of HP:0011518 (Dichromacy)\n", + " \n", + " \n", + " Individuals affected by dichromacy possess only two types of cones, instead of three.\n", + " definition of HP:0011518 (Dichromacy)\n", + " \n", + " \n", + " Abnormality of umbilical vein blood flow\n", + " definition of HP:0010949 (Abnormality of umbilical vein blood flow)\n", + " \n", + " \n", + " A first-trimester prenatal ultrasound finding of abnormal blood flow in the umbilical vein.\n", + " definition of HP:0010949 (Abnormality of umbilical vein blood flow)\n", + " \n", + " \n", + " Increased anti-plant product IgE antibody level\n", + " definition of HP:0410238 (Increased anti-plant product IgE antibody level)\n", + " \n", + " \n", + " Increased level of IgE antibody against antigens from plants and products derived from plants, such as wood or pollen.\n", + " definition of HP:0410238 (Increased anti-plant product IgE antibody level)\n", + " \n", + " \n", + " Upper-limb joint contracture\n", + " definition of HP:0100360 (Upper-limb joint contracture)\n", + " \n", + " \n", + " A limitation in the passive range of motion of a joint of the upper limb resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin.\n", + " definition of HP:0100360 (Upper-limb joint contracture)\n", + " \n", + " \n", + " #Contractures of the joints of the upper limbs\n", + " definition of HP:0100360 (Upper-limb joint contracture)\n", + " \n", + " \n", + " Sparse eyelashes\n", + " definition of HP:0000653 (Sparse eyelashes)\n", + " \n", + " \n", + " Decreased density/number of eyelashes.\n", + " definition of HP:0000653 (Sparse eyelashes)\n", + " \n", + " \n", + " #Hypotrichosis of eyelashes #Partial absence of eyelashes #Scant eyelashes #Scanty eyelashes #Sparse eyelashes #Thin eyelashes\n", + " definition of HP:0000653 (Sparse eyelashes)\n", + " \n", + " \n", + " Adrenocortical hyperplasia\n", + " definition of HP:6000152 (Adrenocortical hyperplasia)\n", + " \n", + " \n", + " A non-malignant growth, or enlargement, of the adrenal glands, specifically the cortex, although the cortex cannot be definitively identified by conventional imaging. Adrenal cortical hyperplasia is defined radiologically as a non-malignant growth, or enlargement, of the adrenal glands.\n", + " definition of HP:6000152 (Adrenocortical hyperplasia)\n", + " \n", + " \n", + " Intermittent hypothermia\n", + " definition of HP:0005964 (Intermittent hypothermia)\n", + " \n", + " \n", + " Episodes of reduced body temperature.\n", + " definition of HP:0005964 (Intermittent hypothermia)\n", + " \n", + " \n", + " #Intermittent abnormally low body temperature #Intermittent hypothermia\n", + " definition of HP:0005964 (Intermittent hypothermia)\n", + " \n", + " \n", + " Hypoplasia of the diaphragm\n", + " definition of HP:0040044 (Hypoplasia of the diaphragm)\n", + " \n", + " \n", + " #Underdeveloped diaphragm\n", + " definition of HP:0040044 (Hypoplasia of the diaphragm)\n", + " \n", + " \n", + " Ivory epiphyses of the 4th finger\n", + " definition of HP:0009399 (Ivory epiphyses of the 4th finger)\n", + " \n", + " \n", + " Sclerosis of the epiphyses of the 4th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.\n", + " definition of HP:0009399 (Ivory epiphyses of the 4th finger)\n", + " \n", + " \n", + " #Increased bone density of end part of the ring finger bone\n", + " definition of HP:0009399 (Ivory epiphyses of the 4th finger)\n", + " \n", + " \n", + " Tibiotalar synostosis\n", + " definition of HP:6001052 (Tibiotalar synostosis)\n", + " \n", + " \n", + " Fusion of the junction between the distal tibia, fibula and the talus.\n", + " definition of HP:6001052 (Tibiotalar synostosis)\n", + " \n", + " \n", + " Corpus callosum atrophy\n", + " definition of HP:0007371 (Corpus callosum atrophy)\n", + " \n", + " \n", + " The presence of atrophy (wasting) of the corpus callosum.\n", + " definition of HP:0007371 (Corpus callosum atrophy)\n", + " \n", + " \n", + " #Atrophic corpus callosum #Atrophy of the corpus callosum #Atrophy/Degeneration of the corpus callosum\n", + " definition of HP:0007371 (Corpus callosum atrophy)\n", + " \n", + " \n", + " Prominent nasolabial fold\n", + " definition of HP:0005272 (Prominent nasolabial fold)\n", + " \n", + " \n", + " Exaggerated bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion, or commissure).\n", + " definition of HP:0005272 (Prominent nasolabial fold)\n", + " \n", + " \n", + " #Deep laugh lines #Deep nasolabial crease #Deep nasolabial fold #Deep nasolabial groove #Deep smile lines #Nasolabial crease, prominent #Prominent laugh lines #Prominent nasolabial groove #Prominent smile lines\n", + " definition of HP:0005272 (Prominent nasolabial fold)\n", + " \n", + " \n", + " Abnormality of the epiphysis of the middle phalanx of the 2nd finger\n", + " definition of HP:0009500 (Abnormality of the epiphysis of the middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Abnormality of end part of the middle bone of the index finger #Epiphyseal abnormality of middle phalanx of the 2nd finger\n", + " definition of HP:0009500 (Abnormality of the epiphysis of the middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " Abnormality of levator labii superioris\n", + " definition of HP:3000071 (Abnormality of levator labii superioris)\n", + " \n", + " \n", + " An abnormality of a levator labii superioris.\n", + " definition of HP:3000071 (Abnormality of levator labii superioris)\n", + " \n", + " \n", + " Oligomenorrhea\n", + " definition of HP:0000876 (Oligomenorrhea)\n", + " \n", + " \n", + " Infrequent menses (less than 6 per year or more than 35 days between cycles).\n", + " definition of HP:0000876 (Oligomenorrhea)\n", + " \n", + " \n", + " #Light or infrequent menstrual periods\n", + " definition of HP:0000876 (Oligomenorrhea)\n", + " \n", + " \n", + " Cone-shaped epiphysis of the distal phalanx of the 2nd toe\n", + " definition of HP:0100102 (Cone-shaped epiphysis of the distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Cone-shaped end part of the outermost bone of the 2nd toe\n", + " definition of HP:0100102 (Cone-shaped epiphysis of the distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Abnormal circulating fetuin A concentration\n", + " definition of HP:0033305 (Abnormal circulating fetuin A concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of fetuin A in the blood circulation.\n", + " definition of HP:0033305 (Abnormal circulating fetuin A concentration)\n", + " \n", + " \n", + " Lipedema\n", + " definition of HP:0100695 (Lipedema)\n", + " \n", + " \n", + " Excess deposit and expansion of adipose tissue in an unusual pattern which cannot be lost through diet and exercise .\n", + " definition of HP:0100695 (Lipedema)\n", + " \n", + " \n", + " Cortical tubers\n", + " definition of HP:0009717 (Cortical tubers)\n", + " \n", + " \n", + " Cortical tubers in the brain are hamartomatous lesions typically located at the gray-white matter interface, commonly in the frontal and parietal lobes. Cortical tubers are composed of abnormal glial and neural cells, and the size, number, and location vary among patients.\n", + " definition of HP:0009717 (Cortical tubers)\n", + " \n", + " \n", + " Increased globoside Gb4 level\n", + " definition of HP:0410366 (Increased globoside Gb4 level)\n", + " \n", + " \n", + " An abnormal increase in the concentration of globoside Gb4.\n", + " definition of HP:0410366 (Increased globoside Gb4 level)\n", + " \n", + " \n", + " #Increased globoside Gb4 concentration\n", + " definition of HP:0410366 (Increased globoside Gb4 level)\n", + " \n", + " \n", + " Single second heart sound\n", + " definition of HP:6000225 (Single second heart sound)\n", + " \n", + " \n", + " The second sound can remain single throughout the respiratory cycle due to either absence of one component or to synchronous occurrence of the two components. Since the pulmonary vascular impedance increases with age, many normal patients over age 50 have a single S2 or at most a narrow physiologic split on inspiration because P2 occurs early. A single second sound, however, is usually due to inability to auscultate a relatively soft pulmonic component. Such inability is rare in healthy infants, children, and young adults and is uncommon even in older persons under good auscultatory conditions using a rigid stethoscopic diaphragm.\n", + " definition of HP:6000225 (Single second heart sound)\n", + " \n", + " \n", + " Excessive bleeding after a venipuncture\n", + " definition of HP:0030139 (Excessive bleeding after a venipuncture)\n", + " \n", + " \n", + " An abnormal high amount of bleeding following the procedure of taking a blood sample.\n", + " definition of HP:0030139 (Excessive bleeding after a venipuncture)\n", + " \n", + " \n", + " Absent thumb\n", + " definition of HP:0009777 (Absent thumb)\n", + " \n", + " \n", + " Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues.\n", + " definition of HP:0009777 (Absent thumb)\n", + " \n", + " \n", + " #Absent thumb #Absent thumbs #Aplasia of the thumb #Thumb aplasia\n", + " definition of HP:0009777 (Absent thumb)\n", + " \n", + " \n", + " Air crescent sign\n", + " definition of HP:0032172 (Air crescent sign)\n", + " \n", + " \n", + " A crescent of air surrounding a soft-tissue mass in a pulmonary cavity and can be seen in both plain X-ray and CT scan.\n", + " definition of HP:0032172 (Air crescent sign)\n", + " \n", + " \n", + " Ameliorated by immunosuppresion\n", + " definition of HP:0032522 (Ameliorated by immunosuppresion)\n", + " \n", + " \n", + " Applies to a sign or symptom that is improved or made more bearable by treatment with immunosuppresive medication.\n", + " definition of HP:0032522 (Ameliorated by immunosuppresion)\n", + " \n", + " \n", + " #Immunosupressive therapy improves condition\n", + " definition of HP:0032522 (Ameliorated by immunosuppresion)\n", + " \n", + " \n", + " Abnormal sialylation of O-linked protein glycosylation\n", + " definition of HP:0012362 (Abnormal sialylation of O-linked protein glycosylation)\n", + " \n", + " \n", + " An anomaly of the addition of sialic acids to O-linked glycans.\n", + " definition of HP:0012362 (Abnormal sialylation of O-linked protein glycosylation)\n", + " \n", + " \n", + " Right aortic arch with mirror image branching\n", + " definition of HP:0002627 (Right aortic arch with mirror image branching)\n", + " \n", + " \n", + " The aortic arch crosses the right mainstem bronchus and not the left mainstem bronchus, but does not result in the creation of a vascular ring. The first branch is the left brachiocephalic artery which divides into the left carotid artery and left subclavian artery, the second branch is the right carotid artery, the third branch is the right subclavian artery.\n", + " definition of HP:0002627 (Right aortic arch with mirror image branching)\n", + " \n", + " \n", + " Abnormal brain choline/creatine ratio by MRS\n", + " definition of HP:0012709 (Abnormal brain choline/creatine ratio by MRS)\n", + " \n", + " \n", + " A deviation from normal in the ratio of choline to creatine in the brain identified by magnetic resonance spectroscopy (MRS).\n", + " definition of HP:0012709 (Abnormal brain choline/creatine ratio by MRS)\n", + " \n", + " \n", + " Retractile testis\n", + " definition of HP:0012646 (Retractile testis)\n", + " \n", + " \n", + " A testis that is located at the upper scrotum or lower inguinal canal and that can be made to descend completely into the scrotum without resistance by manual reduction but returns to its original position by the cremasteric reflex.\n", + " definition of HP:0012646 (Retractile testis)\n", + " \n", + " \n", + " #Retractile testicle\n", + " definition of HP:0012646 (Retractile testis)\n", + " \n", + " \n", + " Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger\n", + " definition of HP:0009528 (Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Fragmentation of end part of innermost long bone of index finger\n", + " definition of HP:0009528 (Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Pleural effusion\n", + " definition of HP:0002202 (Pleural effusion)\n", + " \n", + " \n", + " The presence of an excessive amount of fluid in the pleural cavity.\n", + " definition of HP:0002202 (Pleural effusion)\n", + " \n", + " \n", + " #Fluid around lungs\n", + " definition of HP:0002202 (Pleural effusion)\n", + " \n", + " \n", + " Complete duplication of the middle phalanx of the 5th toe\n", + " definition of HP:0100412 (Complete duplication of the middle phalanx of the 5th toe)\n", + " \n", + " \n", + " Complete duplication of the middle phalanx of the 5th toe.\n", + " definition of HP:0100412 (Complete duplication of the middle phalanx of the 5th toe)\n", + " \n", + " \n", + " #Complete duplication of the middle bone of the little toe #Complete duplication of the middle bone of the pinkie toe #Complete duplication of the middle bone of the pinky toe #Complete duplication of the middle phalanx of the fifth toe\n", + " definition of HP:0100412 (Complete duplication of the middle phalanx of the 5th toe)\n", + " \n", + " \n", + " Exstrophy\n", + " definition of HP:0100548 (Exstrophy)\n", + " \n", + " \n", + " Eversion of a hollow organ and exposure, inside out, and protruded through the abdominal wall.\n", + " definition of HP:0100548 (Exstrophy)\n", + " \n", + " \n", + " Partial IgA deficiency\n", + " definition of HP:0011837 (Partial IgA deficiency)\n", + " \n", + " \n", + " Detectable but decreased IgA levels that are more than 2 standard deviations below normal age-adjusted means.\n", + " definition of HP:0011837 (Partial IgA deficiency)\n", + " \n", + " \n", + " Phlebolith\n", + " definition of HP:6000661 (Phlebolith)\n", + " \n", + " \n", + " A calcified structure that forms within a vein. The pathogenesis of phleboliths is thought to involve an organized thrombus produced when the peripheral blood flow slows. The thrombus calcifies, form- ing the core of the phlebolith. Then, the fibrinous com- ponent undergoes secondary calcification and becomes attached. Repetition of this process causes enlargement of the phlebolith.\n", + " definition of HP:6000661 (Phlebolith)\n", + " \n", + " \n", + " Increased annexin V binding to platelet phosphatidylserine\n", + " definition of HP:0031133 (Increased annexin V binding to platelet phosphatidylserine)\n", + " \n", + " \n", + " Elevated binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry.\n", + " definition of HP:0031133 (Increased annexin V binding to platelet phosphatidylserine)\n", + " \n", + " \n", + " Mottled pigmentation\n", + " definition of HP:0001070 (Mottled pigmentation)\n", + " \n", + " \n", + " Patchy and irregular skin pigmentation.\n", + " definition of HP:0001070 (Mottled pigmentation)\n", + " \n", + " \n", + " #Mottled skin coloring #Mottled skin colouring\n", + " definition of HP:0001070 (Mottled pigmentation)\n", + " \n", + " \n", + " Generalized hyperpigmentation\n", + " definition of HP:0007440 (Generalized hyperpigmentation)\n", + " \n", + " \n", + " #Generalised hyperpigmentation\n", + " definition of HP:0007440 (Generalized hyperpigmentation)\n", + " \n", + " \n", + " Carpal bone aplasia\n", + " definition of HP:0004231 (Carpal bone aplasia)\n", + " \n", + " \n", + " Congenital absence of a carpal bone.\n", + " definition of HP:0004231 (Carpal bone aplasia)\n", + " \n", + " \n", + " #Absent carpal bone #Absent carpal bones #Absent carpal ossification center #Absent carpal ossification centre #Aplastic carpal bone\n", + " definition of HP:0004231 (Carpal bone aplasia)\n", + " \n", + " \n", + " Tessier number 12 facial cleft\n", + " definition of HP:0031584 (Tessier number 12 facial cleft)\n", + " \n", + " \n", + " There is a soft tissue cleft medial to the inner canthus with a cleft of the root of the eyebrow. The frontal process of the maxilla is flat and broadened, and the ethmoid labyrinth is increased in transverse dimension, thereby producing orbital hypertelorism. The cribriform plate is of normal width. The frontal sinus is enlarged. Even though the frontal bone is flattened, bony clefts with encephalocele have not been observed. There is a lateral displacement of the inner canthus with a mild thinning, aplasia, or irregularity of the medial end of the eyebrow. There are no eyelid clefts. The soft tissue contour of the forehead is normal, with only a short downward prolongation of the paramedian frontal hairline to mark the superior extent of the soft tissue cleft. Flattening of the frontal process of the maxilla, an increase in the transverse dimension of the ethmoid sinus, and a laterally convex bowing of the medial orbital wall produce orbital hypertelorism. Superiorly there is a minor flattening of the frontal bone medially, and the nasofrontal angle is somewhat obtuse. The extensive pneumatization of the sinuses on the cleft side extends backward through the frontal and ethmoid sinuses and into the sphenoid sinus. The anatomy of the sphenoid, including the pterygoid processes, is otherwise normal. The anterior and middle cranial fossae floors are both broadened on the cleft side with minor widening of the cribriform plate.\n", + " definition of HP:0031584 (Tessier number 12 facial cleft)\n", + " \n", + " \n", + " Type 1 schizencephaly\n", + " definition of HP:0025702 (Type 1 schizencephaly)\n", + " \n", + " \n", + " A type of Schizencephaly in which there is a trans-mantle column of abnormal gray matter but no evidence of a CSF-containing cleft on MR imaging.\n", + " definition of HP:0025702 (Type 1 schizencephaly)\n", + " \n", + " \n", + " #Trans-mantle schizencephaly\n", + " definition of HP:0025702 (Type 1 schizencephaly)\n", + " \n", + " \n", + " Widened interpedicular distance\n", + " definition of HP:0012679 (Widened interpedicular distance)\n", + " \n", + " \n", + " An increase in the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces.\n", + " definition of HP:0012679 (Widened interpedicular distance)\n", + " \n", + " \n", + " Increased circulating vitamin A concentration\n", + " definition of HP:4000212 (Increased circulating vitamin A concentration)\n", + " \n", + " \n", + " Concentration of vitamin A above the upper limit of normal in the blood circulation.\n", + " definition of HP:4000212 (Increased circulating vitamin A concentration)\n", + " \n", + " \n", + " #Vitamin A high in blood\n", + " definition of HP:4000212 (Increased circulating vitamin A concentration)\n", + " \n", + " \n", + " Dysgerminoma\n", + " definition of HP:0100621 (Dysgerminoma)\n", + " \n", + " \n", + " The presence of a dysgerminoma, i.e., an undifferentiated germ cell tumor of the ovary.\n", + " definition of HP:0100621 (Dysgerminoma)\n", + " \n", + " \n", + " Type A brachydactyly\n", + " definition of HP:0009370 (Type A brachydactyly)\n", + " \n", + " \n", + " Hepatic agenesis\n", + " definition of HP:0100839 (Hepatic agenesis)\n", + " \n", + " \n", + " Absence of the liver owing to a failure of the liver to develop.\n", + " definition of HP:0100839 (Hepatic agenesis)\n", + " \n", + " \n", + " #Failed liver development #Liver agenesis\n", + " definition of HP:0100839 (Hepatic agenesis)\n", + " \n", + " \n", + " Reduced holocarboxylase synthetase activity in cultured fibroblasts\n", + " definition of HP:4000200 (Reduced holocarboxylase synthetase activity in cultured fibroblasts)\n", + " \n", + " \n", + " Concentration or activity of holocarboxylase synthetase (EC 6.3.4.10) as measured in cultured fibroblasts is below the limits of normal.\n", + " definition of HP:4000200 (Reduced holocarboxylase synthetase activity in cultured fibroblasts)\n", + " \n", + " \n", + " Ruffled acrosome\n", + " definition of HP:6000501 (Ruffled acrosome)\n", + " \n", + " \n", + " An irregular wavy appearance of sperm acrosomes.\n", + " definition of HP:6000501 (Ruffled acrosome)\n", + " \n", + " \n", + " Photopsia\n", + " definition of HP:0030786 (Photopsia)\n", + " \n", + " \n", + " Perceived flashes of light.\n", + " definition of HP:0030786 (Photopsia)\n", + " \n", + " \n", + " Peau d'orange\n", + " definition of HP:0025533 (Peau d'orange)\n", + " \n", + " \n", + " Reduced leukocyte cathepsin D activity\n", + " definition of HP:4000192 (Reduced leukocyte cathepsin D activity)\n", + " \n", + " \n", + " Concentration or activity of cathepsin D as measured in leukocytes is below the limits of normal. The reduction in cathepsin D activity can also be measured in fibroblasts.\n", + " definition of HP:4000192 (Reduced leukocyte cathepsin D activity)\n", + " \n", + " \n", + " Immediate-type hypersensitivity drug reaction\n", + " definition of HP:0032378 (Immediate-type hypersensitivity drug reaction)\n", + " \n", + " \n", + " Hypersensitivity that is observed within 1 hr of exposures. A variety of adverse reactions can occur within minutes to hours of exposure to a drug. Some can be related to the pharmacological action of the drug (WHO Adverse Reaction Terminology type A for augmented) and usually have a low mortality. Others are not readily predictable based on the structure and pharmacological action of the drug and have a relatively high mortality risk (Type B for bizarre). The most serious form of immediate onset drug hypersensitivity reaction, anaphylaxis. Other reactions including itching, dizziness/light-headedness, nausea, chest discomfort but without any objective skin features, physical signs or physiological compromise. Skin only reactions include generalized erythema, urticaria or angioedema without any sentinel features (see below) of other organ involvement.\n", + " definition of HP:0032378 (Immediate-type hypersensitivity drug reaction)\n", + " \n", + " \n", + " Hemothorax\n", + " definition of HP:0012151 (Hemothorax)\n", + " \n", + " \n", + " The presence of blood in the pleural space.\n", + " definition of HP:0012151 (Hemothorax)\n", + " \n", + " \n", + " Macular hemorrhage\n", + " definition of HP:0025574 (Macular hemorrhage)\n", + " \n", + " \n", + " Bleeding occurring within the macula lutea of the retina.\n", + " definition of HP:0025574 (Macular hemorrhage)\n", + " \n", + " \n", + " #Macular haemorrhage\n", + " definition of HP:0025574 (Macular hemorrhage)\n", + " \n", + " \n", + " Reduced epidermal keratin 14 protein expression\n", + " definition of HP:0035003 (Reduced epidermal keratin 14 protein expression)\n", + " \n", + " \n", + " Amount of keratin 14 in the epidermis below the lower limit of normal. The findiong is typically ascertained by immunofluorescent microscopy.\n", + " definition of HP:0035003 (Reduced epidermal keratin 14 protein expression)\n", + " \n", + " \n", + " Intrauterine growth retardation\n", + " definition of HP:0001511 (Intrauterine growth retardation)\n", + " \n", + " \n", + " An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.\n", + " definition of HP:0001511 (Intrauterine growth retardation)\n", + " \n", + " \n", + " #In utero growth retardation #Intrauterine growth failure #Intrauterine growth restriction #Intrauterine growth retardation, IUGR #Intrauterine retardation #IUGR #Prenatal growth deficiency #Prenatal growth failure #Prenatal growth retardation #Prenatal onset growth retardation #Prenatal-onset growth retardation #Small for gestational age infant\n", + " definition of HP:0001511 (Intrauterine growth retardation)\n", + " \n", + " \n", + " Long-segment aganglionic megacolon\n", + " definition of HP:0011285 (Long-segment aganglionic megacolon)\n", + " \n", + " \n", + " A type of aganglionic megacolon in which the aganglionic segment extends proximal to the sigmoid.\n", + " definition of HP:0011285 (Long-segment aganglionic megacolon)\n", + " \n", + " \n", + " Short N1 sleep\n", + " definition of HP:5200304 (Short N1 sleep)\n", + " \n", + " \n", + " Decreased duration of phase N1 of nonrapid eye movement (NREM) sleep.\n", + " definition of HP:5200304 (Short N1 sleep)\n", + " \n", + " \n", + " #Short light sleep of NREM\n", + " definition of HP:5200304 (Short N1 sleep)\n", + " \n", + " \n", + " Schizencephaly\n", + " definition of HP:0010636 (Schizencephaly)\n", + " \n", + " \n", + " The presence of a cleft in the cerebral cortex unilaterally or bilaterally, usually located in the frontal area.\n", + " definition of HP:0010636 (Schizencephaly)\n", + " \n", + " \n", + " Abnormality of skeletal maturation\n", + " definition of HP:0000927 (Abnormality of skeletal maturation)\n", + " \n", + " \n", + " The bones of the skeleton undergo a series of characteristic changes in size, shape, and calcification from fetal life until puberty. An abnormality of this process can include delayed or accelerated skeletal maturation, or deviation of some, but not all bones from the expected patterns of maturation.\n", + " definition of HP:0000927 (Abnormality of skeletal maturation)\n", + " \n", + " \n", + " #Abnormality of skeletal maturation\n", + " definition of HP:0000927 (Abnormality of skeletal maturation)\n", + " \n", + " \n", + " Pancreatic hyperplasia\n", + " definition of HP:0006277 (Pancreatic hyperplasia)\n", + " \n", + " \n", + " Hyperplasia of the pancreas.\n", + " definition of HP:0006277 (Pancreatic hyperplasia)\n", + " \n", + " \n", + " Abnormal tarsal bone mineral density\n", + " definition of HP:0009132 (Abnormal tarsal bone mineral density)\n", + " \n", + " \n", + " This term applies to all changes in bone mineral density of the tarsal bones, which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone.\n", + " definition of HP:0009132 (Abnormal tarsal bone mineral density)\n", + " \n", + " \n", + " #Abnormality of bone mineral density involving tarsal bones\n", + " definition of HP:0009132 (Abnormal tarsal bone mineral density)\n", + " \n", + " \n", + " Beaded bile ducts\n", + " definition of HP:6000846 (Beaded bile ducts)\n", + " \n", + " \n", + " Multifocal intra- and extra-hepatic bile duct strictures alternating with normal caliber or slightly dilated segments, resembling beads on a string.\n", + " definition of HP:6000846 (Beaded bile ducts)\n", + " \n", + " \n", + " Slurred speech\n", + " definition of HP:0001350 (Slurred speech)\n", + " \n", + " \n", + " Abnormal coordination of muscles involved in speech.\n", + " definition of HP:0001350 (Slurred speech)\n", + " \n", + " \n", + " #Slurred speech\n", + " definition of HP:0001350 (Slurred speech)\n", + " \n", + " \n", + " Nephritis\n", + " definition of HP:0000123 (Nephritis)\n", + " \n", + " \n", + " The presence of inflammation affecting the kidney.\n", + " definition of HP:0000123 (Nephritis)\n", + " \n", + " \n", + " #Kidney inflammation\n", + " definition of HP:0000123 (Nephritis)\n", + " \n", + " \n", + " Redundant skin in infancy\n", + " definition of HP:0007595 (Redundant skin in infancy)\n", + " \n", + " \n", + " #Excess skin in infancy\n", + " definition of HP:0007595 (Redundant skin in infancy)\n", + " \n", + " \n", + " Hyperhistidinemia\n", + " definition of HP:0010906 (Hyperhistidinemia)\n", + " \n", + " \n", + " An increased concentration of histidine in the blood.\n", + " definition of HP:0010906 (Hyperhistidinemia)\n", + " \n", + " \n", + " #High blood histidine level\n", + " definition of HP:0010906 (Hyperhistidinemia)\n", + " \n", + " \n", + " Generalized tonic seizure\n", + " definition of HP:0010818 (Generalized tonic seizure)\n", + " \n", + " \n", + " A generalized tonic seizure is a type of generalized motor seizure characterized by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities.\n", + " definition of HP:0010818 (Generalized tonic seizure)\n", + " \n", + " \n", + " #Generalised hypertonic seizure #Generalised tonic seizure #Generalised tonic seizures #Generalized hypertonic seizure #Generalized tonic seizures\n", + " definition of HP:0010818 (Generalized tonic seizure)\n", + " \n", + " \n", + " Abnormal circulating iron concentration\n", + " definition of HP:0040130 (Abnormal circulating iron concentration)\n", + " \n", + " \n", + " The concentration of iron in the blood circulation is outside the limits of normal.\n", + " definition of HP:0040130 (Abnormal circulating iron concentration)\n", + " \n", + " \n", + " #Abnormal serum iron concentration\n", + " definition of HP:0040130 (Abnormal circulating iron concentration)\n", + " \n", + " \n", + " Dissociated horizontal deviation\n", + " definition of HP:0500075 (Dissociated horizontal deviation)\n", + " \n", + " \n", + " A change in horizontal ocular alignment, unrelated to accommodation, that is brought about solely by a change in the balance of visual input from the two eyes.\n", + " definition of HP:0500075 (Dissociated horizontal deviation)\n", + " \n", + " \n", + " Complete heart block with broad QRS complexes\n", + " definition of HP:0005170 (Complete heart block with broad QRS complexes)\n", + " \n", + " \n", + " A type of third degree heart block in which the escape rhythm arises at a relatively low part of the conduction system (below the atrioventricular node), which produces a wide QRS complex.\n", + " definition of HP:0005170 (Complete heart block with broad QRS complexes)\n", + " \n", + " \n", + " Stable\n", + " definition of HP:0031915 (Stable)\n", + " \n", + " \n", + " This modifier can be applied to a phenotypic feature that does not vary in severity or amount over time.\n", + " definition of HP:0031915 (Stable)\n", + " \n", + " \n", + " Alternating esotropia\n", + " definition of HP:0001137 (Alternating esotropia)\n", + " \n", + " \n", + " Esotropia in which either eye may be used for fixation.\n", + " definition of HP:0001137 (Alternating esotropia)\n", + " \n", + " \n", + " #Alternating cross eyes\n", + " definition of HP:0001137 (Alternating esotropia)\n", + " \n", + " \n", + " Bullet-shaped proximal phalanges of the hand\n", + " definition of HP:0009853 (Bullet-shaped proximal phalanges of the hand)\n", + " \n", + " \n", + " Short and wide proximal phalanges that taper distally . Bullet-shaped phalanges lack the normal diaphyseal constriction.\n", + " definition of HP:0009853 (Bullet-shaped proximal phalanges of the hand)\n", + " \n", + " \n", + " #Bullet-shaped innermost finger bones of the hand\n", + " definition of HP:0009853 (Bullet-shaped proximal phalanges of the hand)\n", + " \n", + " \n", + " Small flat posterior fossa\n", + " definition of HP:0005759 (Small flat posterior fossa)\n", + " \n", + " \n", + " An abnormally small and flat configuration of the posterior cranial fossa.\n", + " definition of HP:0005759 (Small flat posterior fossa)\n", + " \n", + " \n", + " #Small and flat posterior fossa of skull #Small and flat posterior skull bones\n", + " definition of HP:0005759 (Small flat posterior fossa)\n", + " \n", + " \n", + " Contracture of the proximal interphalangeal joint of the 5th finger\n", + " definition of HP:0009185 (Contracture of the proximal interphalangeal joint of the 5th finger)\n", + " \n", + " \n", + " Proximal interphalangeal (PIP) flexion deformity of the little finger. That is, the PIP joint of a little finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.\n", + " definition of HP:0009185 (Contracture of the proximal interphalangeal joint of the 5th finger)\n", + " \n", + " \n", + " #Camptodactyly of 5th finger #Camptodactyly of the fifth finger\n", + " definition of HP:0009185 (Contracture of the proximal interphalangeal joint of the 5th finger)\n", + " \n", + " \n", + " Monoclonal elevation of IgG light chain\n", + " definition of HP:0032292 (Monoclonal elevation of IgG light chain)\n", + " \n", + " \n", + " A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a light chain but not a heavy chain.\n", + " definition of HP:0032292 (Monoclonal elevation of IgG light chain)\n", + " \n", + " \n", + " Reduced neutrophil myeloperoxidase activity\n", + " definition of HP:6000375 (Reduced neutrophil myeloperoxidase activity)\n", + " \n", + " \n", + " Concentration or activity of myeloperoxidase (EC 1.11.1.7) as measured in neutrophils is below the limits of normal.\n", + " definition of HP:6000375 (Reduced neutrophil myeloperoxidase activity)\n", + " \n", + " \n", + " Disseminated viral infection\n", + " definition of HP:0031696 (Disseminated viral infection)\n", + " \n", + " \n", + " A viral infection that fails to be contained by the immune system and spreads throughout the body.\n", + " definition of HP:0031696 (Disseminated viral infection)\n", + " \n", + " \n", + " Increased circulating apolipoprotein circulation\n", + " definition of HP:0033460 (Increased circulating apolipoprotein circulation)\n", + " \n", + " \n", + " Elevated concentration in the blood circulation of a lipid-transport protein (apoliprotein).\n", + " definition of HP:0033460 (Increased circulating apolipoprotein circulation)\n", + " \n", + " \n", + " Postprandial hyperglycemia\n", + " definition of HP:0011998 (Postprandial hyperglycemia)\n", + " \n", + " \n", + " An increased concentration of glucose in the blood following a meal.\n", + " definition of HP:0011998 (Postprandial hyperglycemia)\n", + " \n", + " \n", + " Distal renal tubular acidosis\n", + " definition of HP:0008341 (Distal renal tubular acidosis)\n", + " \n", + " \n", + " A type of renal tubular acidosis characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. The urine cannot be acidified below a pH of 5.3, associated with acidemia and hypokalemia.\n", + " definition of HP:0008341 (Distal renal tubular acidosis)\n", + " \n", + " \n", + " #Renal tubular acidosis, type I\n", + " definition of HP:0008341 (Distal renal tubular acidosis)\n", + " \n", + " \n", + " Elevated red cell adenosine deaminase activity\n", + " definition of HP:0030270 (Elevated red cell adenosine deaminase activity)\n", + " \n", + " \n", + " Increase in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine.\n", + " definition of HP:0030270 (Elevated red cell adenosine deaminase activity)\n", + " \n", + " \n", + " Anterior neck swelling\n", + " definition of HP:6000176 (Anterior neck swelling)\n", + " \n", + " \n", + " Abormal enlargement of the front part of the neck owing to accumulation of fluid.\n", + " definition of HP:6000176 (Anterior neck swelling)\n", + " \n", + " \n", + " Chylothorax\n", + " definition of HP:0010310 (Chylothorax)\n", + " \n", + " \n", + " Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity.\n", + " definition of HP:0010310 (Chylothorax)\n", + " \n", + " \n", + " Sclerosis of proximal finger phalanx\n", + " definition of HP:0100917 (Sclerosis of proximal finger phalanx)\n", + " \n", + " \n", + " An elevation in bone density in one or more proximal phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity.\n", + " definition of HP:0100917 (Sclerosis of proximal finger phalanx)\n", + " \n", + " \n", + " #Increased bone density in innermost finger bone #Sclerosis of the proximal phalanges of the hand\n", + " definition of HP:0100917 (Sclerosis of proximal finger phalanx)\n", + " \n", + " \n", + " Abnormal conjugate eye movement\n", + " definition of HP:0000549 (Abnormal conjugate eye movement)\n", + " \n", + " \n", + " Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object.\n", + " definition of HP:0000549 (Abnormal conjugate eye movement)\n", + " \n", + " \n", + " #Disconjugate eye movements\n", + " definition of HP:0000549 (Abnormal conjugate eye movement)\n", + " \n", + " \n", + " Cortical radial artery intimal mucoid edema\n", + " definition of HP:0033960 (Cortical radial artery intimal mucoid edema)\n", + " \n", + " \n", + " Accumulation of edematous extracellular matrix in the intima of the cortical radial artery (also known as the interlobular artery) of the kidney. This material resembles mucus and stains pale blue on hematoxylin and eosin staining.\n", + " definition of HP:0033960 (Cortical radial artery intimal mucoid edema)\n", + " \n", + " \n", + " #Intimal mucoid edema within interlobular arterial intima/media #Intimal mucoid oedema within interlobular arterial intima/media\n", + " definition of HP:0033960 (Cortical radial artery intimal mucoid edema)\n", + " \n", + " \n", + " Reduced haptoglobin level\n", + " definition of HP:0020181 (Reduced haptoglobin level)\n", + " \n", + " \n", + " An abnormally low concentration of haptoglobin in the blood circulation. Decreased haptoglobin in conjunction with increased reticulocyte count and anemia may indicate hemolysis. Decreased haptoglobin levels can also occur in the absence of hemolysis, due to cirrhosis of the liver, disseminated ovarian carcinomatosis, pulmonary sarcoidosis, and elevated estrogen state.\n", + " definition of HP:0020181 (Reduced haptoglobin level)\n", + " \n", + " \n", + " Beaded septum sign\n", + " definition of HP:0033654 (Beaded septum sign)\n", + " \n", + " \n", + " Irregular and nodular thickening of interlobular septa reminiscent of a row of beads.\n", + " definition of HP:0033654 (Beaded septum sign)\n", + " \n", + " \n", + " Periarticular soft-tissue mass\n", + " definition of HP:0020127 (Periarticular soft-tissue mass)\n", + " \n", + " \n", + " A lump detected in the region that surrounds a joint. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction.\n", + " definition of HP:0020127 (Periarticular soft-tissue mass)\n", + " \n", + " \n", + " Abnormal CSF glycine concentration\n", + " definition of HP:0500229 (Abnormal CSF glycine concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of glycine in the cerebrospinal fluid.\n", + " definition of HP:0500229 (Abnormal CSF glycine concentration)\n", + " \n", + " \n", + " #Abnormal glycine levels in cerebrospinal fluid\n", + " definition of HP:0500229 (Abnormal CSF glycine concentration)\n", + " \n", + " \n", + " 5-minute APGAR score of 2\n", + " definition of HP:0030922 (5-minute APGAR score of 2)\n", + " \n", + " \n", + " Glioma\n", + " definition of HP:0009733 (Glioma)\n", + " \n", + " \n", + " The presence of a glioma, which is a neoplasm of the central nervous system originating from a glial cell (astrocytes or oligodendrocytes).\n", + " definition of HP:0009733 (Glioma)\n", + " \n", + " \n", + " Atrophic pituitary gland\n", + " definition of HP:0410279 (Atrophic pituitary gland)\n", + " \n", + " \n", + " Partial or complete wasting (loss) of the pituitary gland.\n", + " definition of HP:0410279 (Atrophic pituitary gland)\n", + " \n", + " \n", + " #Atrophic pituitary #Pituitary gland atrophy\n", + " definition of HP:0410279 (Atrophic pituitary gland)\n", + " \n", + " \n", + " Female external genitalia in individual with 46,XY karyotype\n", + " definition of HP:0008730 (Female external genitalia in individual with 46,XY karyotype)\n", + " \n", + " \n", + " The presence of female external genitalia in a person with a male karyotype.\n", + " definition of HP:0008730 (Female external genitalia in individual with 46,XY karyotype)\n", + " \n", + " \n", + " #Males with female external genitalia\n", + " definition of HP:0008730 (Female external genitalia in individual with 46,XY karyotype)\n", + " \n", + " \n", + " Abdominal organ duplication\n", + " definition of HP:0005217 (Abdominal organ duplication)\n", + " \n", + " \n", + " A congenital malformation characterized by the development of an additional organ or organ-like structure, i.e., an extra copy of the organ normally located in the abdomen.\n", + " definition of HP:0005217 (Abdominal organ duplication)\n", + " \n", + " \n", + " Anti-neuronal intermediate filament antibody positivity\n", + " definition of HP:6001058 (Anti-neuronal intermediate filament antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neuronal intermediate filament.\n", + " definition of HP:6001058 (Anti-neuronal intermediate filament antibody positivity)\n", + " \n", + " \n", + " Abnormal alveolar macrophage morphology\n", + " definition of HP:0032984 (Abnormal alveolar macrophage morphology)\n", + " \n", + " \n", + " Alveolar macrophages usually make up the majority of cells in the bronchoalveolar space (over 80%). The may contain intracellular material depending on underlying diseases or due to exposition to inhaled particles.\n", + " definition of HP:0032984 (Abnormal alveolar macrophage morphology)\n", + " \n", + " \n", + " Absent epiphysis of the distal phalanx of the 4th finger\n", + " definition of HP:0009250 (Absent epiphysis of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " Absence of the epiphysis located at the proximal end of the distal phalanx of the 4th finger.\n", + " definition of HP:0009250 (Absent epiphysis of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " #Absent end part of the outermost bone of the ring finger\n", + " definition of HP:0009250 (Absent epiphysis of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " Abnormal circulating CC chemokine concentration\n", + " definition of HP:6000446 (Abnormal circulating CC chemokine concentration)\n", + " \n", + " \n", + " The concentration in the blood circulation of a member of the CC chemokine family is outside of normal limits.\n", + " definition of HP:6000446 (Abnormal circulating CC chemokine concentration)\n", + " \n", + " \n", + " Ainhum\n", + " definition of HP:0031009 (Ainhum)\n", + " \n", + " \n", + " Development of a fibrotic constriction ring involving the base of one or more toes, conditioning eversion and absorption of distal structures, possibly progressing to spontaneous amputation.\n", + " definition of HP:0031009 (Ainhum)\n", + " \n", + " \n", + " #Dactylolysis spontanea\n", + " definition of HP:0031009 (Ainhum)\n", + " \n", + " \n", + " Juxtaductal coarctation of the aorta\n", + " definition of HP:0011646 (Juxtaductal coarctation of the aorta)\n", + " \n", + " \n", + " Narrowing or constriction of the aorta localized at the insertion of the ductus arteriosus, i.e., to the juxtaductal region of aortic arch.\n", + " definition of HP:0011646 (Juxtaductal coarctation of the aorta)\n", + " \n", + " \n", + " Snoring\n", + " definition of HP:0025267 (Snoring)\n", + " \n", + " \n", + " Deep, noisy breathing during sleep, accompanied by hoarse or harsh sounds, is caused by the vibration of respiratory structures, especially the soft palate. This vibration results in sound due to obstructed air movement during breathing while sleeping.\n", + " definition of HP:0025267 (Snoring)\n", + " \n", + " \n", + " #Snore #Snores #Snoring symptoms\n", + " definition of HP:0025267 (Snoring)\n", + " \n", + " \n", + " Pinhole visual acuity 0.6 LogMAR\n", + " definition of HP:0030574 (Pinhole visual acuity 0.6 LogMAR)\n", + " \n", + " \n", + " Enlarged epiphysis of the middle phalanx of the 4th toe\n", + " definition of HP:0100183 (Enlarged epiphysis of the middle phalanx of the 4th toe)\n", + " \n", + " \n", + " #Enlarged end part of the middle bone of the 4th toe\n", + " definition of HP:0100183 (Enlarged epiphysis of the middle phalanx of the 4th toe)\n", + " \n", + " \n", + " Late inspiratory crackles\n", + " definition of HP:0031998 (Late inspiratory crackles)\n", + " \n", + " \n", + " Crackles that appear any time after the beginning of inspiration and last till the end of inspiration.\n", + " definition of HP:0031998 (Late inspiratory crackles)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the cochlea\n", + " definition of HP:0011395 (Aplasia/Hypoplasia of the cochlea)\n", + " \n", + " \n", + " Absence or underdevelopment of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect.\n", + " definition of HP:0011395 (Aplasia/Hypoplasia of the cochlea)\n", + " \n", + " \n", + " #Absent/small cochlea #Absent/underdeveloped cochlea\n", + " definition of HP:0011395 (Aplasia/Hypoplasia of the cochlea)\n", + " \n", + " \n", + " Abnormal circulating ethanolamine concentration\n", + " definition of HP:0500249 (Abnormal circulating ethanolamine concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of ethanolamine in circulation.\n", + " definition of HP:0500249 (Abnormal circulating ethanolamine concentration)\n", + " \n", + " \n", + " #Abnormal ethanolamine levels in the blood\n", + " definition of HP:0500249 (Abnormal circulating ethanolamine concentration)\n", + " \n", + " \n", + " Healthy\n", + " definition of HP:0032322 (Healthy)\n", + " \n", + " \n", + " No history of any serious disease, including the disease being investigated in the proband.\n", + " definition of HP:0032322 (Healthy)\n", + " \n", + " \n", + " Increased neutrophil mitochondria\n", + " definition of HP:0041045 (Increased neutrophil mitochondria)\n", + " \n", + " \n", + " An increased number of mitochondria detected in neutrophils.\n", + " definition of HP:0041045 (Increased neutrophil mitochondria)\n", + " \n", + " \n", + " Synovial cyst\n", + " definition of HP:6000364 (Synovial cyst)\n", + " \n", + " \n", + " A fluid-filled sac or pouch-like mass that is a distention of a preexisting bursa in a joint, tendon sheaths or bursae. Synovial cysts contain synovial fluid and are lined by synovial membrane.\n", + " definition of HP:6000364 (Synovial cyst)\n", + " \n", + " \n", + " Methylmalonic acidemia\n", + " definition of HP:0002912 (Methylmalonic acidemia)\n", + " \n", + " \n", + " Increased concentration of methylmalonic acid in the blood.\n", + " definition of HP:0002912 (Methylmalonic acidemia)\n", + " \n", + " \n", + " #Elevated circulating methylmalonic acid concentration\n", + " definition of HP:0002912 (Methylmalonic acidemia)\n", + " \n", + " \n", + " Celiac artery compression\n", + " definition of HP:0012327 (Celiac artery compression)\n", + " \n", + " \n", + " Compression of the celiac artery.\n", + " definition of HP:0012327 (Celiac artery compression)\n", + " \n", + " \n", + " #Coeliac artery compression\n", + " definition of HP:0012327 (Celiac artery compression)\n", + " \n", + " \n", + " Elevated circulating pipecolic acid concentration\n", + " definition of HP:6000268 (Elevated circulating pipecolic acid concentration)\n", + " \n", + " \n", + " The concentration of pipecolic acid in the blood circulation is above the upper limit of normal.\n", + " definition of HP:6000268 (Elevated circulating pipecolic acid concentration)\n", + " \n", + " \n", + " #Hyperpipecolatemia #Pipecolic acid high in blood\n", + " definition of HP:6000268 (Elevated circulating pipecolic acid concentration)\n", + " \n", + " \n", + " Hypodipsia\n", + " definition of HP:0025382 (Hypodipsia)\n", + " \n", + " \n", + " Reduced fluid intake (drinking) in a clinical situation where the plasma molarity or sodium concentration normally would induce greater fluid intake.\n", + " definition of HP:0025382 (Hypodipsia)\n", + " \n", + " \n", + " Cicatricial entropion\n", + " definition of HP:0031737 (Cicatricial entropion)\n", + " \n", + " \n", + " Abnormal inversion (turning inward) of the eyelid towards the globe associated with scarring that vertically shortens the posterior lamella of the eyelid.\n", + " definition of HP:0031737 (Cicatricial entropion)\n", + " \n", + " \n", + " White oral mucosal macule\n", + " definition of HP:0033026 (White oral mucosal macule)\n", + " \n", + " \n", + " A small circumscribed whitish change in the color of the oral mucosa that is neither elevated nor depressed.\n", + " definition of HP:0033026 (White oral mucosal macule)\n", + " \n", + " \n", + " Abnormal location of the eyebrow\n", + " definition of HP:0040296 (Abnormal location of the eyebrow)\n", + " \n", + " \n", + " Anomalous anatomical placement of the eyebrow.\n", + " definition of HP:0040296 (Abnormal location of the eyebrow)\n", + " \n", + " \n", + " #Abnormal location of eyebrows #Abnormally placed eyebrows\n", + " definition of HP:0040296 (Abnormal location of the eyebrow)\n", + " \n", + " \n", + " Lymph-node follicular sclerosis\n", + " definition of HP:0020267 (Lymph-node follicular sclerosis)\n", + " \n", + " \n", + " Collagen deposition, typically with decreased cellularity, within lymph-node follicles.\n", + " definition of HP:0020267 (Lymph-node follicular sclerosis)\n", + " \n", + " \n", + " #Follicular sclerosis\n", + " definition of HP:0020267 (Lymph-node follicular sclerosis)\n", + " \n", + " \n", + " Generalized lipodystrophy\n", + " definition of HP:0009064 (Generalized lipodystrophy)\n", + " \n", + " \n", + " Generalized degenerative changes of the fat tissue.\n", + " definition of HP:0009064 (Generalized lipodystrophy)\n", + " \n", + " \n", + " #Generalised lipodystrophy #Lipodystrophy, generalised #Lipodystrophy, generalized\n", + " definition of HP:0009064 (Generalized lipodystrophy)\n", + " \n", + " \n", + " Increased cerebral lipofuscin\n", + " definition of HP:0011813 (Increased cerebral lipofuscin)\n", + " \n", + " \n", + " Lipofuscin (age pigment) is a brown-yellow, electron-dense, autofluorescent material that accumulates progressively over time in lysosomes of postmitotic cells, such as neurons and cardiac myocytes. This term pertains if there is an increase in the accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.\n", + " definition of HP:0011813 (Increased cerebral lipofuscin)\n", + " \n", + " \n", + " Bicarbonaturia\n", + " definition of HP:0003646 (Bicarbonaturia)\n", + " \n", + " \n", + " Abnormally increased concentration of hydrogencarbonate in the urine.\n", + " definition of HP:0003646 (Bicarbonaturia)\n", + " \n", + " \n", + " #Increased urine bicarbonate concentration #Increased urine HCO3 concentration\n", + " definition of HP:0003646 (Bicarbonaturia)\n", + " \n", + " \n", + " Slender forearm bones\n", + " definition of HP:0003969 (Slender forearm bones)\n", + " \n", + " \n", + " Radial deviation of thumb terminal phalanx\n", + " definition of HP:0005895 (Radial deviation of thumb terminal phalanx)\n", + " \n", + " \n", + " Pseudoepiphyses of the 2nd toe\n", + " definition of HP:0100051 (Pseudoepiphyses of the 2nd toe)\n", + " \n", + " \n", + " Congenital stationary night blindness\n", + " definition of HP:0007642 (Congenital stationary night blindness)\n", + " \n", + " \n", + " A nonprogressive (i.e., stationary) form of difficulties with night blindness with congenital onset.\n", + " definition of HP:0007642 (Congenital stationary night blindness)\n", + " \n", + " \n", + " #Congenital night blindness #Night blindness since birth #Static congenital hemeralopia\n", + " definition of HP:0007642 (Congenital stationary night blindness)\n", + " \n", + " \n", + " Frontal cutaneous lipoma\n", + " definition of HP:0007541 (Frontal cutaneous lipoma)\n", + " \n", + " \n", + " Presence of a cutaneous lipoma on the forehead.\n", + " definition of HP:0007541 (Frontal cutaneous lipoma)\n", + " \n", + " \n", + " Positive Phalen test\n", + " definition of HP:0033673 (Positive Phalen test)\n", + " \n", + " \n", + " The Phalen maneuver is performed by having the patient hold both wrists in complete and forced flexion (pushing the dorsal surfaces of both hands together) for 30-60 seconds. This can increase the pressure in the carpal tunnel. The test is positive (abnormal) if the patient experiences characteristic symptoms of carpal tunnel syndrome (pain and paresthesias along the distribution of the median nerve, i.e., thumb, index finger, and middle finger).\n", + " definition of HP:0033673 (Positive Phalen test)\n", + " \n", + " \n", + " #Phalen maneuver #Phalen manoeuvre\n", + " definition of HP:0033673 (Positive Phalen test)\n", + " \n", + " \n", + " Increased bone density with cystic changes\n", + " definition of HP:0005700 (Increased bone density with cystic changes)\n", + " \n", + " \n", + " Hypoplastic philtrum\n", + " definition of HP:0005326 (Hypoplastic philtrum)\n", + " \n", + " \n", + " Underdevelopment of the philtrum.\n", + " definition of HP:0005326 (Hypoplastic philtrum)\n", + " \n", + " \n", + " #Small philtrum\n", + " definition of HP:0005326 (Hypoplastic philtrum)\n", + " \n", + " \n", + " Depressed nasal ridge\n", + " definition of HP:0000457 (Depressed nasal ridge)\n", + " \n", + " \n", + " Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge.\n", + " definition of HP:0000457 (Depressed nasal ridge)\n", + " \n", + " \n", + " #Depressed dorsum of nose #Depressed nasal dorsum #Flat dorsum of nose #Flat nasal dorsum #Flat nose #Recessed dorsum of nose #Recessed nasal dorsum #Recessed nasal ridge #Retruded dorsum of nose #Retruded nasal dorsum #Retruded nasal ridge\n", + " definition of HP:0000457 (Depressed nasal ridge)\n", + " \n", + " \n", + " Adrenocorticotropic hormone excess\n", + " definition of HP:0011749 (Adrenocorticotropic hormone excess)\n", + " \n", + " \n", + " Overproduction of adrenocorticotropic hormone (ACTH), which generally leads secondarily to overproduction of cortisol by the adrenal cortex.\n", + " definition of HP:0011749 (Adrenocorticotropic hormone excess)\n", + " \n", + " \n", + " #ACTH excess\n", + " definition of HP:0011749 (Adrenocorticotropic hormone excess)\n", + " \n", + " \n", + " Impaired nasal mucociliary clearance\n", + " definition of HP:0031603 (Impaired nasal mucociliary clearance)\n", + " \n", + " \n", + " An abnormally increased amount of time required to clear mucus (and substances contained in the mucus) from the nasal mucosa. The nasal mucociliary clearance (NMC) system functions to transport the mucous layer lining the nasal epithelium towards the naso pharynx by ciliary beating in a metachronous fashion at a frequency of 7-16 Hz. NMC depends upon two principal components: physicochemical qualities and quantities of mucus and the properties of cilia that propel it. NMC is considered to be representative of pulmonary clearance. normal NMC time is determined to be up to 20 minutes. Duration of 30 minutes is considered as the cutoff point that discriminates normal subjects from subjects with impaired NMC. NMC can be measured by determination of the transport time of markers that are placed on the nasal mucosa including saccharine, radioactive markers, and dyes.\n", + " definition of HP:0031603 (Impaired nasal mucociliary clearance)\n", + " \n", + " \n", + " Narrow nasal ridge\n", + " definition of HP:0000418 (Narrow nasal ridge)\n", + " \n", + " \n", + " Decreased width of the nasal ridge.\n", + " definition of HP:0000418 (Narrow nasal ridge)\n", + " \n", + " \n", + " #Decreased width of dorsum of nose #Decreased width of nasal dorsum #Decreased width of nasal ridge #Narrow dorsum of nose #Narrow nasal dorsum #Narrow nasal ridge #Pinched nose #Thin dorsum of nose #Thin nasal dorsum #Thin nasal ridge\n", + " definition of HP:0000418 (Narrow nasal ridge)\n", + " \n", + " \n", + " Lack of facial subcutaneous fat\n", + " definition of HP:0005320 (Lack of facial subcutaneous fat)\n", + " \n", + " \n", + " #Lack of facial fat below the skin\n", + " definition of HP:0005320 (Lack of facial subcutaneous fat)\n", + " \n", + " \n", + " Anisocoria\n", + " definition of HP:0009916 (Anisocoria)\n", + " \n", + " \n", + " Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease.\n", + " definition of HP:0009916 (Anisocoria)\n", + " \n", + " \n", + " #Asymmetric pupil sizes #Asymmetry of the pupils #Unequal pupil dilatation #Unequal pupil size\n", + " definition of HP:0009916 (Anisocoria)\n", + " \n", + " \n", + " Rhomboid or triangular shaped 5th finger proximal phalanx\n", + " definition of HP:0009236 (Rhomboid or triangular shaped 5th finger proximal phalanx)\n", + " \n", + " \n", + " Rhomboid or triangular shaped 5th (little) finger proximal phalanx.\n", + " definition of HP:0009236 (Rhomboid or triangular shaped 5th finger proximal phalanx)\n", + " \n", + " \n", + " #Rhomboid or triangular shaped innermost bone of little finger #Rhomboid or triangular shaped innermost bone of pinkie finger #Rhomboid or triangular shaped innermost bone of pinky finger\n", + " definition of HP:0009236 (Rhomboid or triangular shaped 5th finger proximal phalanx)\n", + " \n", + " \n", + " Tree-in-bud pattern\n", + " definition of HP:0032174 (Tree-in-bud pattern)\n", + " \n", + " \n", + " The tree-in-bud pattern represents centrilobular branching structures that resemble a budding tree. The pattern reflects a spectrum of endo- and peribronchiolar disorders, including mucoid impaction, inflammation, and/or fibrosis (See Figure 70 of PMID:18195376).\n", + " definition of HP:0032174 (Tree-in-bud pattern)\n", + " \n", + " \n", + " Miliary\n", + " definition of HP:0033817 (Miliary)\n", + " \n", + " \n", + " Characterized by numerous small lesions said to resemble millet seed.\n", + " definition of HP:0033817 (Miliary)\n", + " \n", + " \n", + " Atypical teratoid/rhabdoid tumor\n", + " definition of HP:0034401 (Atypical teratoid/rhabdoid tumor)\n", + " \n", + " \n", + " An aggressive malignant embryonal neoplasm arising from the central nervous system. It is composed of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. Mutations of the SMARCB1 gene or very rarely SMARCA4 (BRG1) gene are present. The vast majority of cases occur in childhood. Symptoms include lethargy, vomiting, cranial nerve palsy, headache, and hemiplegia.\n", + " definition of HP:0034401 (Atypical teratoid/rhabdoid tumor)\n", + " \n", + " \n", + " Abnormal glossopharyngeal nerve morphology\n", + " definition of HP:3000047 (Abnormal glossopharyngeal nerve morphology)\n", + " \n", + " \n", + " Any structural anomaly of the glossopharyngeal nerve, the ninth paired cranial nerve (CN IX).\n", + " definition of HP:3000047 (Abnormal glossopharyngeal nerve morphology)\n", + " \n", + " \n", + " #Abnormality of glossopharyngeal nerve\n", + " definition of HP:3000047 (Abnormal glossopharyngeal nerve morphology)\n", + " \n", + " \n", + " Positive oropharangeal infectious agent test\n", + " definition of HP:6000579 (Positive oropharangeal infectious agent test)\n", + " \n", + " \n", + " Any kind of test for an infectious agent in the oropharynx positive. The oropharynx is defined as the middle part of the throat and includes the soft palate, the side and back walls of the throat, the tonsils, and the posterior one-third of the tongue.\n", + " definition of HP:6000579 (Positive oropharangeal infectious agent test)\n", + " \n", + " \n", + " Pruritis on abdomen\n", + " definition of HP:0030898 (Pruritis on abdomen)\n", + " \n", + " \n", + " Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the abdomen.\n", + " definition of HP:0030898 (Pruritis on abdomen)\n", + " \n", + " \n", + " Abnormality of the pancreas\n", + " definition of HP:0001732 (Abnormality of the pancreas)\n", + " \n", + " \n", + " An abnormality of the pancreas.\n", + " definition of HP:0001732 (Abnormality of the pancreas)\n", + " \n", + " \n", + " #Abnormality of the pancreas\n", + " definition of HP:0001732 (Abnormality of the pancreas)\n", + " \n", + " \n", + " Abnormal larynx physiology\n", + " definition of HP:0025424 (Abnormal larynx physiology)\n", + " \n", + " \n", + " Any anomaly of the function of the larynx.\n", + " definition of HP:0025424 (Abnormal larynx physiology)\n", + " \n", + " \n", + " Duplication of phalanx of 2nd finger\n", + " definition of HP:0009945 (Duplication of phalanx of 2nd finger)\n", + " \n", + " \n", + " This term applies if one or more of the phalanges of the 2nd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.\n", + " definition of HP:0009945 (Duplication of phalanx of 2nd finger)\n", + " \n", + " \n", + " #Duplication of the bones of index finger #Partial/complete duplication of phalanges of the 2nd finger\n", + " definition of HP:0009945 (Duplication of phalanx of 2nd finger)\n", + " \n", + " \n", + " Deviation of the 2nd toe\n", + " definition of HP:0010326 (Deviation of the 2nd toe)\n", + " \n", + " \n", + " #Displacement of the 2nd toe\n", + " definition of HP:0010326 (Deviation of the 2nd toe)\n", + " \n", + " \n", + " Positive bloodstream adenovirus nucleic acid test\n", + " definition of HP:6000739 (Positive bloodstream adenovirus nucleic acid test)\n", + " \n", + " \n", + " Detection of nucleic acid of an adenovirus in the blood circulation by a methiod such as polymerase chain reaction (PCR).\n", + " definition of HP:6000739 (Positive bloodstream adenovirus nucleic acid test)\n", + " \n", + " \n", + " Enlarged epiphysis of the distal phalanx of the 4th toe\n", + " definition of HP:0100172 (Enlarged epiphysis of the distal phalanx of the 4th toe)\n", + " \n", + " \n", + " #Enlarged end part of the outermost bone of the 4th toe\n", + " definition of HP:0100172 (Enlarged epiphysis of the distal phalanx of the 4th toe)\n", + " \n", + " \n", + " Albuminuria\n", + " definition of HP:0012592 (Albuminuria)\n", + " \n", + " \n", + " Increased concentration of albumin in the urine.\n", + " definition of HP:0012592 (Albuminuria)\n", + " \n", + " \n", + " Paresthesia\n", + " definition of HP:0003401 (Paresthesia)\n", + " \n", + " \n", + " Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.\n", + " definition of HP:0003401 (Paresthesia)\n", + " \n", + " \n", + " #Paresthesias #Pins and needles feeling #Tingling\n", + " definition of HP:0003401 (Paresthesia)\n", + " \n", + " \n", + " Abnormal cortical peritubular capillary morphology\n", + " definition of HP:0033860 (Abnormal cortical peritubular capillary morphology)\n", + " \n", + " \n", + " Anomalous structure of the peritubular capillaries located in the cortex of the kidney.\n", + " definition of HP:0033860 (Abnormal cortical peritubular capillary morphology)\n", + " \n", + " \n", + " Abnormal CSF threonine concentration\n", + " definition of HP:0500211 (Abnormal CSF threonine concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of threonine in the cerebrospinal fluid.\n", + " definition of HP:0500211 (Abnormal CSF threonine concentration)\n", + " \n", + " \n", + " #Abnormal threonine levels in cerebrospinal fluid\n", + " definition of HP:0500211 (Abnormal CSF threonine concentration)\n", + " \n", + " \n", + " Clinical course\n", + " definition of HP:0031797 (Clinical course)\n", + " \n", + " \n", + " The course a disease typically takes from its onset, progression in time, and eventual resolution or death of the affected individual.\n", + " definition of HP:0031797 (Clinical course)\n", + " \n", + " \n", + " Sinoatrial block\n", + " definition of HP:0012723 (Sinoatrial block)\n", + " \n", + " \n", + " Disturbance in the atrial activation that is caused by transient failure of impulse conduction from the sinoatrial node to the cardiac atria.\n", + " definition of HP:0012723 (Sinoatrial block)\n", + " \n", + " \n", + " Best corrected visual acuity 1.3 LogMAR\n", + " definition of HP:0030566 (Best corrected visual acuity 1.3 LogMAR)\n", + " \n", + " \n", + " Mononeuropathy\n", + " definition of HP:0009831 (Mononeuropathy)\n", + " \n", + " \n", + " A focal lesion of a single peripheral nerve. Damage to a sensory nerve is accompanied by sensory impairment of all modalities in the affected anatomic distribution.\n", + " definition of HP:0009831 (Mononeuropathy)\n", + " \n", + " \n", + " #Single damaged nerve\n", + " definition of HP:0009831 (Mononeuropathy)\n", + " \n", + " \n", + " Abnormality of limbs\n", + " definition of HP:0040064 (Abnormality of limbs)\n", + " \n", + " \n", + " #Abnormal limbs #Abnormality of limbs #Limb anomaly\n", + " definition of HP:0040064 (Abnormality of limbs)\n", + " \n", + " \n", + " Aplasia of the vestibular nerve.\n", + " definition of HP:0011393 (Aplasia of the vestibular nerve.)\n", + " \n", + " \n", + " Absence of the vestibular nerve\n", + " definition of HP:0011393 (Aplasia of the vestibular nerve.)\n", + " \n", + " \n", + " #Absent cranial nerve viii #Absent the eighth cranial nerve #Absent vestribular nerve #Aplasia of the eighth cranial nerve\n", + " definition of HP:0011393 (Aplasia of the vestibular nerve.)\n", + " \n", + " \n", + " Bladder fistula\n", + " definition of HP:0004321 (Bladder fistula)\n", + " \n", + " \n", + " The presence of a fistula connecting the urinary bladder to another organ or the skin. The fistula can involve the bowel, the vagina, or rarely, the skin.\n", + " definition of HP:0004321 (Bladder fistula)\n", + " \n", + " \n", + " Pugilistic facies\n", + " definition of HP:0000339 (Pugilistic facies)\n", + " \n", + " \n", + " Coarse facial features reminiscent of those of a boxer.\n", + " definition of HP:0000339 (Pugilistic facies)\n", + " \n", + " \n", + " #Boxer-like facial appearance #Pugilistic facial appearance\n", + " definition of HP:0000339 (Pugilistic facies)\n", + " \n", + " \n", + " Laryngeal cleft\n", + " definition of HP:0008751 (Laryngeal cleft)\n", + " \n", + " \n", + " Presence of a gap in the posterior laryngotracheal wall with a continuity between the larynx and the esophagus.\n", + " definition of HP:0008751 (Laryngeal cleft)\n", + " \n", + " \n", + " #Laryngotracheal cleft #Laryngotracheoesophageal cleft i\n", + " definition of HP:0008751 (Laryngeal cleft)\n", + " \n", + " \n", + " Graves disease\n", + " definition of HP:0100647 (Graves disease)\n", + " \n", + " \n", + " An autoimmune disease where the thyroid is overactive, producing an excessive amount of thyroid hormones (a serious metabolic imbalance known as hyperthyroidism and thyrotoxicosis). This is caused by autoantibodies to the TSH-receptor (TSHR-Ab) that activate that TSH-receptor (TSHR), thereby stimulating thyroid hormone synthesis and secretion, and thyroid growth (causing a diffusely enlarged goiter). The resulting state of hyperthyroidism can cause a dramatic constellation of neuropsychological and physical signs and symptoms, which can severely compromise the patients.\n", + " definition of HP:0100647 (Graves disease)\n", + " \n", + " \n", + " #Morbus Basedow\n", + " definition of HP:0100647 (Graves disease)\n", + " \n", + " \n", + " Renal Fanconi syndrome\n", + " definition of HP:0001994 (Renal Fanconi syndrome)\n", + " \n", + " \n", + " An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water.\n", + " definition of HP:0001994 (Renal Fanconi syndrome)\n", + " \n", + " \n", + " #De toni-fanconi-debre syndrome #Renal tubular fanconi syndrome\n", + " definition of HP:0001994 (Renal Fanconi syndrome)\n", + " \n", + " \n", + " Hemopericardium\n", + " definition of HP:0011851 (Hemopericardium)\n", + " \n", + " \n", + " Accumulation of blood within the pericardial sac.\n", + " definition of HP:0011851 (Hemopericardium)\n", + " \n", + " \n", + " Cortical irregularity\n", + " definition of HP:0005731 (Cortical irregularity)\n", + " \n", + " \n", + " An abnormal irregularity of cortical bone.\n", + " definition of HP:0005731 (Cortical irregularity)\n", + " \n", + " \n", + " Sclerosis of the distal phalanx of the 2nd toe\n", + " definition of HP:0100939 (Sclerosis of the distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Increased bone density in the outermost bone of the 2nd toe\n", + " definition of HP:0100939 (Sclerosis of the distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Diet-resistant subcutaneous adipose tissue below waist\n", + " definition of HP:0025385 (Diet-resistant subcutaneous adipose tissue below waist)\n", + " \n", + " \n", + " Areas of subcutanous fat tissue below the waist that are resistant to (do not respond as expected to) diet, life-style alteration, or bariatric surgery.\n", + " definition of HP:0025385 (Diet-resistant subcutaneous adipose tissue below waist)\n", + " \n", + " \n", + " Cerebellar agenesis\n", + " definition of HP:0012642 (Cerebellar agenesis)\n", + " \n", + " \n", + " Cerebellar agenesis is defined by the near complete absence of cerebellar tissue with only remnants of the anterior vermis, flocculus, and/or middle cerebellar peduncles.\n", + " definition of HP:0012642 (Cerebellar agenesis)\n", + " \n", + " \n", + " Elevated urinary inosine level\n", + " definition of HP:0040422 (Elevated urinary inosine level)\n", + " \n", + " \n", + " The amount of inosine in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:0040422 (Elevated urinary inosine level)\n", + " \n", + " \n", + " Abnormality of ophthalmic artery\n", + " definition of HP:0410006 (Abnormality of ophthalmic artery)\n", + " \n", + " \n", + " Abnormality of the first branch of the internal carotid artery.\n", + " definition of HP:0410006 (Abnormality of ophthalmic artery)\n", + " \n", + " \n", + " #Ophthalmic artery anomaly\n", + " definition of HP:0410006 (Abnormality of ophthalmic artery)\n", + " \n", + " \n", + " Increased circulating ceruloplasmin concentration\n", + " definition of HP:0033145 (Increased circulating ceruloplasmin concentration)\n", + " \n", + " \n", + " Elevated concentration of ceruloplasmin in the blood circulation.\n", + " definition of HP:0033145 (Increased circulating ceruloplasmin concentration)\n", + " \n", + " \n", + " Red desaturation\n", + " definition of HP:0030585 (Red desaturation)\n", + " \n", + " \n", + " Abnormality of the os naviculare pedis\n", + " definition of HP:0100339 (Abnormality of the os naviculare pedis)\n", + " \n", + " \n", + " Distal tibial bowing\n", + " definition of HP:0006414 (Distal tibial bowing)\n", + " \n", + " \n", + " A bending or abnormal curvature of the distal portion of the tibia.\n", + " definition of HP:0006414 (Distal tibial bowing)\n", + " \n", + " \n", + " #Bowing of the distal tibia #Tibial bowing at ankle\n", + " definition of HP:0006414 (Distal tibial bowing)\n", + " \n", + " \n", + " Elevated circulating follicle stimulating hormone level\n", + " definition of HP:0008232 (Elevated circulating follicle stimulating hormone level)\n", + " \n", + " \n", + " An elevated concentration of follicle-stimulating hormone in the blood.\n", + " definition of HP:0008232 (Elevated circulating follicle stimulating hormone level)\n", + " \n", + " \n", + " #Elevated follicle stimulating hormone #Elevated follicle-stimulating hormone #Elevated FSH level #Elevated plasma follicle stimulating hormone #Increased circulating follicle stimulating hormone level\n", + " definition of HP:0008232 (Elevated circulating follicle stimulating hormone level)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the middle ear\n", + " definition of HP:0008773 (Aplasia/Hypoplasia of the middle ear)\n", + " \n", + " \n", + " Aplasia or developmental hypoplasia of all or part of the middle ear.\n", + " definition of HP:0008773 (Aplasia/Hypoplasia of the middle ear)\n", + " \n", + " \n", + " #Absent/small middle ear #Absent/underdeveloped middle ear #Hypoplastic/aplastic middle ear structures #Middle ear hypoplasia/aplasia\n", + " definition of HP:0008773 (Aplasia/Hypoplasia of the middle ear)\n", + " \n", + " \n", + " Reduced factor XIII activity\n", + " definition of HP:0008357 (Reduced factor XIII activity)\n", + " \n", + " \n", + " Decreased activity of coagulation factor XIII (also known as fibrin stabilizing factor). Activated Factor XIII cross-links fibrin polymers solidifying the clot.\n", + " definition of HP:0008357 (Reduced factor XIII activity)\n", + " \n", + " \n", + " Postaxial polydactyly type A\n", + " definition of HP:0005696 (Postaxial polydactyly type A)\n", + " \n", + " \n", + " Supernumerary digits located at the ulnar side of the hand with a complete extra finger and extra metacarpal.\n", + " definition of HP:0005696 (Postaxial polydactyly type A)\n", + " \n", + " \n", + " Wide nasal ridge\n", + " definition of HP:0012811 (Wide nasal ridge)\n", + " \n", + " \n", + " Increased width of the nasal ridge.\n", + " definition of HP:0012811 (Wide nasal ridge)\n", + " \n", + " \n", + " #Broad dorsum of nose #Broad nasal dorsum #Increased width of dorsum of nose #Increased width of nasal dorsum #Increased width of nasal ridge #Nasal ridge, wide #Wide dorsum of nose #Wide nasal dorsum #Wide nasal ridge\n", + " definition of HP:0012811 (Wide nasal ridge)\n", + " \n", + " \n", + " Elevated circulating C16 acylcarnitine concentration\n", + " definition of HP:0035021 (Elevated circulating C16 acylcarnitine concentration)\n", + " \n", + " \n", + " Concentration of C16 acylcarnitines in the blood circulation above the upper limit of normal. C16 acylcarnitines have a sixteen-carbon acyl chain.\n", + " definition of HP:0035021 (Elevated circulating C16 acylcarnitine concentration)\n", + " \n", + " \n", + " Sorbitol ingestion\n", + " definition of HP:6000953 (Sorbitol ingestion)\n", + " \n", + " \n", + " A history of ingestion of a relatively high amount of foods containing sorbitol.\n", + " definition of HP:6000953 (Sorbitol ingestion)\n", + " \n", + " \n", + " Microcornea\n", + " definition of HP:0000482 (Microcornea)\n", + " \n", + " \n", + " A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.\n", + " definition of HP:0000482 (Microcornea)\n", + " \n", + " \n", + " #Cornea of eye less than 10mm in diameter #Decreased corneal diameter\n", + " definition of HP:0000482 (Microcornea)\n", + " \n", + " \n", + " Inappropriate absence of fever\n", + " definition of HP:0033104 (Inappropriate absence of fever)\n", + " \n", + " \n", + " Failure to develop fever in the presence of an infection that normally would be expected to elicit a febrile response.\n", + " definition of HP:0033104 (Inappropriate absence of fever)\n", + " \n", + " \n", + " Cervical spinal canal stenosis\n", + " definition of HP:0008445 (Cervical spinal canal stenosis)\n", + " \n", + " \n", + " An abnormal narrowing of the cervical spinal canal.\n", + " definition of HP:0008445 (Cervical spinal canal stenosis)\n", + " \n", + " \n", + " #Narrow cervical spinal canal\n", + " definition of HP:0008445 (Cervical spinal canal stenosis)\n", + " \n", + " \n", + " Anomalous origin of right coronary artery from the pulmonary artery\n", + " definition of HP:0011639 (Anomalous origin of right coronary artery from the pulmonary artery)\n", + " \n", + " \n", + " Right coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the right cusp of the aortic valve.\n", + " definition of HP:0011639 (Anomalous origin of right coronary artery from the pulmonary artery)\n", + " \n", + " \n", + " Blood xenobiotic\n", + " definition of HP:0410172 (Blood xenobiotic)\n", + " \n", + " \n", + " The presence of a xenobiotic in blood.\n", + " definition of HP:0410172 (Blood xenobiotic)\n", + " \n", + " \n", + " Abnormal duodenum morphology\n", + " definition of HP:0002246 (Abnormal duodenum morphology)\n", + " \n", + " \n", + " An abnormality of the duodenum, i.e., the first section of the small intestine.\n", + " definition of HP:0002246 (Abnormal duodenum morphology)\n", + " \n", + " \n", + " #Abnormality of the duodenum\n", + " definition of HP:0002246 (Abnormal duodenum morphology)\n", + " \n", + " \n", + " Motor tics\n", + " definition of HP:0100034 (Motor tics)\n", + " \n", + " \n", + " Movement-based tics affecting discrete muscle groups.\n", + " definition of HP:0100034 (Motor tics)\n", + " \n", + " \n", + " Permanent atrial fibrillation\n", + " definition of HP:0004754 (Permanent atrial fibrillation)\n", + " \n", + " \n", + " Atrial fibrillation (AF) that cannot be successfully terminated by cardioversion, and longstanding (more than 1 year) AF, where cardioversion is not indicated or has not been attempted, is termed permanent.\n", + " definition of HP:0004754 (Permanent atrial fibrillation)\n", + " \n", + " \n", + " Pregnancy history\n", + " definition of HP:0002686 (Pregnancy history)\n", + " \n", + " \n", + " Medical history of maternal diseases, exposures, or other relevant findings during the pregnancy of which the index person was the product.\n", + " definition of HP:0002686 (Pregnancy history)\n", + " \n", + " \n", + " #Prenatal maternal abnormality\n", + " definition of HP:0002686 (Pregnancy history)\n", + " \n", + " \n", + " Microblepharia\n", + " definition of HP:0430010 (Microblepharia)\n", + " \n", + " \n", + " Abnormal shortness of the vertical dimensions of the eyelids.\n", + " definition of HP:0430010 (Microblepharia)\n", + " \n", + " \n", + " #Abnormally small eyelid\n", + " definition of HP:0430010 (Microblepharia)\n", + " \n", + " \n", + " Irregular epiphyses of the 2nd finger\n", + " definition of HP:0009493 (Irregular epiphyses of the 2nd finger)\n", + " \n", + " \n", + " Irregular radiographic opacity of the epiphyses of the 2nd finger.\n", + " definition of HP:0009493 (Irregular epiphyses of the 2nd finger)\n", + " \n", + " \n", + " #Irregular end part of the index finger\n", + " definition of HP:0009493 (Irregular epiphyses of the 2nd finger)\n", + " \n", + " \n", + " CNS hypomyelination\n", + " definition of HP:0003429 (CNS hypomyelination)\n", + " \n", + " \n", + " Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis.\n", + " definition of HP:0003429 (CNS hypomyelination)\n", + " \n", + " \n", + " Endogenous lipoid pneumonia\n", + " definition of HP:0033365 (Endogenous lipoid pneumonia)\n", + " \n", + " \n", + " A type of lipoid pneumonia in which the source of the lipids is the body itself. When an airway is obstructed, it is often the case that distal to the obstruction, lipid-laden macrophages and giant cells fill the lumen of the disconnected airspace.\n", + " definition of HP:0033365 (Endogenous lipoid pneumonia)\n", + " \n", + " \n", + " Synostosis of the proximal phalanx of the thumb with the 1st metacarpal\n", + " definition of HP:0009640 (Synostosis of the proximal phalanx of the thumb with the 1st metacarpal)\n", + " \n", + " \n", + " Fusion of the proximal phalanx of the thumb with the 1st metacarpal.\n", + " definition of HP:0009640 (Synostosis of the proximal phalanx of the thumb with the 1st metacarpal)\n", + " \n", + " \n", + " #Ankylosis of the metacarpophalangeal joint of the thumb #Fusion of the innermost bone of the thumb with the 1st long bone of hand\n", + " definition of HP:0009640 (Synostosis of the proximal phalanx of the thumb with the 1st metacarpal)\n", + " \n", + " \n", + " Anterior mediastinal mass\n", + " definition of HP:0033827 (Anterior mediastinal mass)\n", + " \n", + " \n", + " A type of inferior mediastinal mass that is located in front of the pericardium.\n", + " definition of HP:0033827 (Anterior mediastinal mass)\n", + " \n", + " \n", + " Long upper lip\n", + " definition of HP:0011341 (Long upper lip)\n", + " \n", + " \n", + " Increased width of the upper lip.\n", + " definition of HP:0011341 (Long upper lip)\n", + " \n", + " \n", + " #Elongation of upper lip #Increased height of upper lip #Increased vertical length of upper lip #Long upper lip\n", + " definition of HP:0011341 (Long upper lip)\n", + " \n", + " \n", + " Metabolic ketoacidosis\n", + " definition of HP:0005979 (Metabolic ketoacidosis)\n", + " \n", + " \n", + " A metabolic acidosis due to accumulation of ketone bodies generally observed in the setting of poor nutritional intake.\n", + " definition of HP:0005979 (Metabolic ketoacidosis)\n", + " \n", + " \n", + " #Starvation ketoacidosis\n", + " definition of HP:0005979 (Metabolic ketoacidosis)\n", + " \n", + " \n", + " Impaired executive functioning\n", + " definition of HP:0033051 (Impaired executive functioning)\n", + " \n", + " \n", + " A disturbance of executive functioning, which is broadly defined as the set of abilities that allow for the planning, executing, monitoring, and self-correcting of goal-directed behavior while inhibiting task-irrelevant behavior. At least some degree of executive skill is needed to complete most cognitive tasks, and deficits in executive abilities are central to many clinical conditions, including fronto-temporal dementia.\n", + " definition of HP:0033051 (Impaired executive functioning)\n", + " \n", + " \n", + " Spinal dysplasia\n", + " definition of HP:0008423 (Spinal dysplasia)\n", + " \n", + " \n", + " The presence of developmental dysplasia of the vertebral column.\n", + " definition of HP:0008423 (Spinal dysplasia)\n", + " \n", + " \n", + " Abnormal cardiac biomarker test\n", + " definition of HP:0500020 (Abnormal cardiac biomarker test)\n", + " \n", + " \n", + " Abnormal blood test results measuring creatine kinase (CK), CK-MB, troponin (TROPI), myoglobin, and/or cardiac enzymes.\n", + " definition of HP:0500020 (Abnormal cardiac biomarker test)\n", + " \n", + " \n", + " Focal impaired awareness hemifacial clonic seizure\n", + " definition of HP:0032847 (Focal impaired awareness hemifacial clonic seizure)\n", + " \n", + " \n", + " Focal seizure characterized at onset by clonic movements affecting half of the face with impairment of awareness in which awareness is impaired at some point during the seizure.\n", + " definition of HP:0032847 (Focal impaired awareness hemifacial clonic seizure)\n", + " \n", + " \n", + " Advanced eruption of teeth\n", + " definition of HP:0006288 (Advanced eruption of teeth)\n", + " \n", + " \n", + " Premature tooth eruption, which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age.\n", + " definition of HP:0006288 (Advanced eruption of teeth)\n", + " \n", + " \n", + " #Advanced dental eruption #Advanced tooth eruption #Early dental eruption #Early eruption of teeth #Eruption, advanced #Premature dental eruption #Premature eruption of teeth #Premature tooth eruption\n", + " definition of HP:0006288 (Advanced eruption of teeth)\n", + " \n", + " \n", + " Cerebellar hemisphere hypoplasia\n", + " definition of HP:0100307 (Cerebellar hemisphere hypoplasia)\n", + " \n", + " \n", + " Frequent falls\n", + " definition of HP:0002359 (Frequent falls)\n", + " \n", + " \n", + " #Frequent falls\n", + " definition of HP:0002359 (Frequent falls)\n", + " \n", + " \n", + " Increased dermatoglyphic whorls\n", + " definition of HP:0005875 (Increased dermatoglyphic whorls)\n", + " \n", + " \n", + " Retinopathy of prematurity plus\n", + " definition of HP:0500062 (Retinopathy of prematurity plus)\n", + " \n", + " \n", + " Venous dilatation and arteriolar tortuosity of the posterior retinal vessels and may later increase in severity to include iris vascular engorgement, poor pupillary dilatation (rigid pupil), and vitreous haze. This definition has been further refined in the later clinical trials in which the diagnosis of plus disease could be made if sufficient vascular dilatation and tortuosity are present in at least 2 quadrants of the eye.\n", + " definition of HP:0500062 (Retinopathy of prematurity plus)\n", + " \n", + " \n", + " #ROP plus\n", + " definition of HP:0500062 (Retinopathy of prematurity plus)\n", + " \n", + " \n", + " Femoral hernia\n", + " definition of HP:0100541 (Femoral hernia)\n", + " \n", + " \n", + " A hernia which occurs just below the inguinal ligament, where abdominal contents pass through a naturally occurring weakness called the femoral canal.\n", + " definition of HP:0100541 (Femoral hernia)\n", + " \n", + " \n", + " #Crural hernia\n", + " definition of HP:0100541 (Femoral hernia)\n", + " \n", + " \n", + " Abnormal autonomic nervous system morphology\n", + " definition of HP:0012331 (Abnormal autonomic nervous system morphology)\n", + " \n", + " \n", + " A structural abnormality of the autonomic nervous system.\n", + " definition of HP:0012331 (Abnormal autonomic nervous system morphology)\n", + " \n", + " \n", + " Aortic tortuosity\n", + " definition of HP:0006687 (Aortic tortuosity)\n", + " \n", + " \n", + " Abnormal tortuous (i.e., twisted) form of the aorta.\n", + " definition of HP:0006687 (Aortic tortuosity)\n", + " \n", + " \n", + " Hobby horse gait\n", + " definition of HP:0031856 (Hobby horse gait)\n", + " \n", + " \n", + " An abnormal gait characterized by toe walking, stiff legs, and skipping. The gait pattern has some resemblance to cock-walk gait, but affected individuals are able to improve their dystonic gait by walking backward.\n", + " definition of HP:0031856 (Hobby horse gait)\n", + " \n", + " \n", + " Reduced number of corneal endothelial cells\n", + " definition of HP:0011491 (Reduced number of corneal endothelial cells)\n", + " \n", + " \n", + " A reduction in the number of corneal endothelial cells.\n", + " definition of HP:0011491 (Reduced number of corneal endothelial cells)\n", + " \n", + " \n", + " Abnormal palmar dermal ridges\n", + " definition of HP:0007608 (Abnormal palmar dermal ridges)\n", + " \n", + " \n", + " Congenital miosis\n", + " definition of HP:0007728 (Congenital miosis)\n", + " \n", + " \n", + " Abnormal (non-physiological) constriction of the pupil of congenital onset.\n", + " definition of HP:0007728 (Congenital miosis)\n", + " \n", + " \n", + " Parafoveal fixation\n", + " definition of HP:0031768 (Parafoveal fixation)\n", + " \n", + " \n", + " Fixation of an object in the area adjacent to the fovea.\n", + " definition of HP:0031768 (Parafoveal fixation)\n", + " \n", + " \n", + " Palmar pruritus\n", + " definition of HP:0031248 (Palmar pruritus)\n", + " \n", + " \n", + " Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the palm(s) of the hand.\n", + " definition of HP:0031248 (Palmar pruritus)\n", + " \n", + " \n", + " #Itchy palm\n", + " definition of HP:0031248 (Palmar pruritus)\n", + " \n", + " \n", + " Microdontia of primary teeth\n", + " definition of HP:0006347 (Microdontia of primary teeth)\n", + " \n", + " \n", + " Decreased size of the primary teeth.\n", + " definition of HP:0006347 (Microdontia of primary teeth)\n", + " \n", + " \n", + " #Decreased width of baby teeth #Decreased width of deciduous teeth #Decreased width of milk teeth #Decreased width of primary tooth #Microdontia of deciduous teeth #Small deciduous teeth\n", + " definition of HP:0006347 (Microdontia of primary teeth)\n", + " \n", + " \n", + " Positive tissue coccidioidomycosis culture\n", + " definition of HP:6000965 (Positive tissue coccidioidomycosis culture)\n", + " \n", + " \n", + " Growth of coccidioidomycosis in a culture derived from skin or an organ.\n", + " definition of HP:6000965 (Positive tissue coccidioidomycosis culture)\n", + " \n", + " \n", + " Hip flexor weakness\n", + " definition of HP:0012515 (Hip flexor weakness)\n", + " \n", + " \n", + " Reduced ability to flex the femur, that is, to pull the knee upward.\n", + " definition of HP:0012515 (Hip flexor weakness)\n", + " \n", + " \n", + " Abnormal circulating B-type natriuretic peptide concentration\n", + " definition of HP:0031138 (Abnormal circulating B-type natriuretic peptide concentration)\n", + " \n", + " \n", + " A deviation from the normal circulating concentration of B-type natriuretic peptide (BNP).\n", + " definition of HP:0031138 (Abnormal circulating B-type natriuretic peptide concentration)\n", + " \n", + " \n", + " #Abnormal B-type natriuretic peptide level\n", + " definition of HP:0031138 (Abnormal circulating B-type natriuretic peptide concentration)\n", + " \n", + " \n", + " Reduced tissue galactocerebrosidase activity\n", + " definition of HP:0034322 (Reduced tissue galactocerebrosidase activity)\n", + " \n", + " \n", + " Concentration or activity of galactocerebrosidase (EC 3.2.1.46) below the lower limit of normal. This enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts.\n", + " definition of HP:0034322 (Reduced tissue galactocerebrosidase activity)\n", + " \n", + " \n", + " Preaxial polydactyly\n", + " definition of HP:0100258 (Preaxial polydactyly)\n", + " \n", + " \n", + " A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe.\n", + " definition of HP:0100258 (Preaxial polydactyly)\n", + " \n", + " \n", + " #Polydactyly, preaxial\n", + " definition of HP:0100258 (Preaxial polydactyly)\n", + " \n", + " \n", + " Epiphyseal streaking\n", + " definition of HP:0004990 (Epiphyseal streaking)\n", + " \n", + " \n", + " Abnormal synovial membrane morphology\n", + " definition of HP:0005262 (Abnormal synovial membrane morphology)\n", + " \n", + " \n", + " Any structural anomaly of the synovium, which is a membrane that lines the cavity of synovial joints and consists of a lining layer of macrophage-like synoviocytes and fibroblast-like synoviocytes, as well as a sublining of connective tissue. Synovial cells are thought to contribute to joint homeostasis by secreting various factors such as hyaluronic acid and lubricin important for joint lubrication and function, as well as disposing of the waste products.\n", + " definition of HP:0005262 (Abnormal synovial membrane morphology)\n", + " \n", + " \n", + " Superficial episcleral hyperemia\n", + " definition of HP:0025339 (Superficial episcleral hyperemia)\n", + " \n", + " \n", + " Prominence of blood vessels of the superficial episcleral tissues.\n", + " definition of HP:0025339 (Superficial episcleral hyperemia)\n", + " \n", + " \n", + " #Superficial episcleral hypaeremia\n", + " definition of HP:0025339 (Superficial episcleral hyperemia)\n", + " \n", + " \n", + " Recurrent pyelonephritis\n", + " definition of HP:0012787 (Recurrent pyelonephritis)\n", + " \n", + " \n", + " Repeated episodes of pyelonephritis.\n", + " definition of HP:0012787 (Recurrent pyelonephritis)\n", + " \n", + " \n", + " Rete ridge elongation\n", + " definition of HP:0034768 (Rete ridge elongation)\n", + " \n", + " \n", + " Increased length of the rete rdiges of the epidermis.\n", + " definition of HP:0034768 (Rete ridge elongation)\n", + " \n", + " \n", + " #Elongation of rete ridges #Rete ridges elongated\n", + " definition of HP:0034768 (Rete ridge elongation)\n", + " \n", + " \n", + " Pinhole visual acuity 1.2 LogMAR\n", + " definition of HP:0030580 (Pinhole visual acuity 1.2 LogMAR)\n", + " \n", + " \n", + " Food allergy\n", + " definition of HP:0500093 (Food allergy)\n", + " \n", + " \n", + " Primary food allergies primarily occur as a result (most likely) of gastrointestinal sensitization to predominantly stable food allergens (glycoproteins). A secondary food allergy develops after primary sensitization to airborne allergens (e. g., pollen allergens) with subsequent reactions (due to cross-reactivity) to structurally related often labile allergens in (plant) foods.\n", + " definition of HP:0500093 (Food allergy)\n", + " \n", + " \n", + " #Food allergy #IgE-mediated food allergy #Immunoglobulin E-mediated food allergy\n", + " definition of HP:0500093 (Food allergy)\n", + " \n", + " \n", + " Elevated blink rate\n", + " definition of HP:0034776 (Elevated blink rate)\n", + " \n", + " \n", + " The frequecy with which the eye is blinked is above the upper limit of normal.\n", + " definition of HP:0034776 (Elevated blink rate)\n", + " \n", + " \n", + " Hyperperistalsis\n", + " definition of HP:0100770 (Hyperperistalsis)\n", + " \n", + " \n", + " Excessively active peristalsis (wave of contraction of the tubular organs of the gastrointestinal tract) marked by excessive rapidity of the passage of food through the stomach and intestine.\n", + " definition of HP:0100770 (Hyperperistalsis)\n", + " \n", + " \n", + " Modic type II vertebral endplate changes\n", + " definition of HP:0030777 (Modic type II vertebral endplate changes)\n", + " \n", + " \n", + " An abnormal magnetic resonance tomography signal from a vertebral endplate with a high signal on T1-weighted sequences and high- or isointense signal on T2 sequences. Modic type II signals are thought to indicate fatty replacement in the bone marrow.\n", + " definition of HP:0030777 (Modic type II vertebral endplate changes)\n", + " \n", + " \n", + " #Modic type 2 vertebral endplate changes\n", + " definition of HP:0030777 (Modic type II vertebral endplate changes)\n", + " \n", + " \n", + " Fingernail dysplasia\n", + " definition of HP:0100798 (Fingernail dysplasia)\n", + " \n", + " \n", + " An abnormality of the development of the fingernails.\n", + " definition of HP:0100798 (Fingernail dysplasia)\n", + " \n", + " \n", + " #Abnormal fingernail development #Dysplastic fingernails\n", + " definition of HP:0100798 (Fingernail dysplasia)\n", + " \n", + " \n", + " Elevated circulating Angiotensin-converting enzyme concentration\n", + " definition of HP:6000213 (Elevated circulating Angiotensin-converting enzyme concentration)\n", + " \n", + " \n", + " Concentration of angiotensin-converting enzyme (ACE) in the blood circulation above the upper limit of normal.\n", + " definition of HP:6000213 (Elevated circulating Angiotensin-converting enzyme concentration)\n", + " \n", + " \n", + " #Angiotensin-converting enzyme (ACE) high in blood\n", + " definition of HP:6000213 (Elevated circulating Angiotensin-converting enzyme concentration)\n", + " \n", + " \n", + " Abnormal atrial arrangement\n", + " definition of HP:0011535 (Abnormal atrial arrangement)\n", + " \n", + " \n", + " Abnormality of the spatial relationship of the atria to other components of the heart.\n", + " definition of HP:0011535 (Abnormal atrial arrangement)\n", + " \n", + " \n", + " #Abnormal location of heart atrium\n", + " definition of HP:0011535 (Abnormal atrial arrangement)\n", + " \n", + " \n", + " Decreased HDL2b concentration\n", + " definition of HP:0032423 (Decreased HDL2b concentration)\n", + " \n", + " \n", + " A reduction below the normal concentration of the HDL2b subfraction in the blood circulation. An HDL2b particle is defined as an HDL particle with a size of 9.7-12 nm.\n", + " definition of HP:0032423 (Decreased HDL2b concentration)\n", + " \n", + " \n", + " Pelvic arteriovenous malformation\n", + " definition of HP:0031344 (Pelvic arteriovenous malformation)\n", + " \n", + " \n", + " An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the pelvis.\n", + " definition of HP:0031344 (Pelvic arteriovenous malformation)\n", + " \n", + " \n", + " Muscle fiber necrosis\n", + " definition of HP:0003713 (Muscle fiber necrosis)\n", + " \n", + " \n", + " Abnormal cell death involving muscle fibers usually associated with break in, or absence of, muscle surface fiber membrane and resulting in irreversible damage to muscle fibers.\n", + " definition of HP:0003713 (Muscle fiber necrosis)\n", + " \n", + " \n", + " #Muscle fibre necrosis\n", + " definition of HP:0003713 (Muscle fiber necrosis)\n", + " \n", + " \n", + " Verruca plana\n", + " definition of HP:0550004 (Verruca plana)\n", + " \n", + " \n", + " Slightly raised wart 2-5 mm in diameter often associated with viral infections, commonly persistent in immunodeficient individuals.\n", + " definition of HP:0550004 (Verruca plana)\n", + " \n", + " \n", + " #Flat wart\n", + " definition of HP:0550004 (Verruca plana)\n", + " \n", + " \n", + " Supramitral ring\n", + " definition of HP:0011572 (Supramitral ring)\n", + " \n", + " \n", + " A congenital stenotic mitral valvular anomaly with a ring of tissue above the mitral valve.\n", + " definition of HP:0011572 (Supramitral ring)\n", + " \n", + " \n", + " #Membranous supravalvular mitral stenosis #Supravalvular mitral ring\n", + " definition of HP:0011572 (Supramitral ring)\n", + " \n", + " \n", + " Acral\n", + " definition of HP:0025292 (Acral)\n", + " \n", + " \n", + " Applies to an abnormality that affects the distal portions of limbs (hand, foot) and head (ears, nose).\n", + " definition of HP:0025292 (Acral)\n", + " \n", + " \n", + " Partial fusion of proximal row of carpal bones\n", + " definition of HP:0005694 (Partial fusion of proximal row of carpal bones)\n", + " \n", + " \n", + " Best corrected visual acuity 1.1 LogMAR\n", + " definition of HP:0030564 (Best corrected visual acuity 1.1 LogMAR)\n", + " \n", + " \n", + " Juvenile cataract\n", + " definition of HP:0001118 (Juvenile cataract)\n", + " \n", + " \n", + " A type of cataract that is not apparent at birth but that arises in childhood or adolescence.\n", + " definition of HP:0001118 (Juvenile cataract)\n", + " \n", + " \n", + " Abnormal circulating calcitonin concentration\n", + " definition of HP:0034902 (Abnormal circulating calcitonin concentration)\n", + " \n", + " \n", + " Concentration of calcitonin, a 32-amino acid polypeptide hormone that is produced primarily by the parafollicular cells of the thyroid, in the blood circulation outside of normal limits.\n", + " definition of HP:0034902 (Abnormal circulating calcitonin concentration)\n", + " \n", + " \n", + " Synostosis involving the 1st metacarpal\n", + " definition of HP:0009703 (Synostosis involving the 1st metacarpal)\n", + " \n", + " \n", + " Fusion of the 1st metacarpal with another bone. In contrast to the proximal phalanges of the digits 2 to 5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.\n", + " definition of HP:0009703 (Synostosis involving the 1st metacarpal)\n", + " \n", + " \n", + " #First metacarpophalangeal joint synostosis #Fusion involving 1st long bone of hand #Symphalangism affecting the 1st metacarpal\n", + " definition of HP:0009703 (Synostosis involving the 1st metacarpal)\n", + " \n", + " \n", + " Pleuropulmonary blastoma\n", + " definition of HP:0100528 (Pleuropulmonary blastoma)\n", + " \n", + " \n", + " A rare cancer originating in the lung or pleural cavity that occurs most often in infants and young children but also has been reported in adults. Pleuropulmonary blastoma is regarded as malignant.\n", + " definition of HP:0100528 (Pleuropulmonary blastoma)\n", + " \n", + " \n", + " Interhypothalamic adhesion\n", + " definition of HP:0033105 (Interhypothalamic adhesion)\n", + " \n", + " \n", + " An abnormal parenchymal band connecting the medial margins of the left and right hypothalami across the third ventricle.\n", + " definition of HP:0033105 (Interhypothalamic adhesion)\n", + " \n", + " \n", + " #Hypothalamic adhesion\n", + " definition of HP:0033105 (Interhypothalamic adhesion)\n", + " \n", + " \n", + " Unaided visual acuity 1.0 LogMAR\n", + " definition of HP:0030545 (Unaided visual acuity 1.0 LogMAR)\n", + " \n", + " \n", + " Focal cognitive seizure with memory impairment\n", + " definition of HP:0032687 (Focal cognitive seizure with memory impairment)\n", + " \n", + " \n", + " A focal cognitive seizure characterized by transient memory impairment as the initial semiological manifestation whilst other cognitive functions and awareness are preserved at seizure onset. The memory impairment may be an inability to recall events occurring prior to the seizure (retrograde amnesia), or failure to encode new memories for events occurring during the seizure (anterograde amnesia).\n", + " definition of HP:0032687 (Focal cognitive seizure with memory impairment)\n", + " \n", + " \n", + " #Amnestic aura #Amnestic seizure\n", + " definition of HP:0032687 (Focal cognitive seizure with memory impairment)\n", + " \n", + " \n", + " Anti-Kelch like protein 11 antibody positivity\n", + " definition of HP:5000019 (Anti-Kelch like protein 11 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against kelch-like protein 11 (KLHL11).\n", + " definition of HP:5000019 (Anti-Kelch like protein 11 antibody positivity)\n", + " \n", + " \n", + " #Anti-KLHL11 antibody\n", + " definition of HP:5000019 (Anti-Kelch like protein 11 antibody positivity)\n", + " \n", + " \n", + " Pallidal degeneration\n", + " definition of HP:0007132 (Pallidal degeneration)\n", + " \n", + " \n", + " Neurodegeneration involving the globus pallidus,a part of the basal ganglia that is involved in the regulation of voluntary movement.\n", + " definition of HP:0007132 (Pallidal degeneration)\n", + " \n", + " \n", + " Glomerular capillary microaneurysm\n", + " definition of HP:0033271 (Glomerular capillary microaneurysm)\n", + " \n", + " \n", + " Glomerular capillary dilatation due to loosening/detachment of the glomerular basement membrane (GBM) from its anchoring points, usually in the context of mesangiolysis or nodular glomerulosclerosis.\n", + " definition of HP:0033271 (Glomerular capillary microaneurysm)\n", + " \n", + " \n", + " Hypersplenism\n", + " definition of HP:0001971 (Hypersplenism)\n", + " \n", + " \n", + " A malfunctioning of the spleen in which it prematurely destroys red blood cells.\n", + " definition of HP:0001971 (Hypersplenism)\n", + " \n", + " \n", + " Synostosis involving bones of the hand\n", + " definition of HP:0004278 (Synostosis involving bones of the hand)\n", + " \n", + " \n", + " An abnormal union between bones or parts of bones of the hand.\n", + " definition of HP:0004278 (Synostosis involving bones of the hand)\n", + " \n", + " \n", + " Cardiomyocyte hyaline bodies\n", + " definition of HP:0034796 (Cardiomyocyte hyaline bodies)\n", + " \n", + " \n", + " Subsarcolemmal, eosinophilic glass-like regions within the cytoplasm of cardiomyocytes.\n", + " definition of HP:0034796 (Cardiomyocyte hyaline bodies)\n", + " \n", + " \n", + " GM2-ganglioside accumulation\n", + " definition of HP:0003495 (GM2-ganglioside accumulation)\n", + " \n", + " \n", + " Cellular accumulation of GM2 gangliosides.\n", + " definition of HP:0003495 (GM2-ganglioside accumulation)\n", + " \n", + " \n", + " Elevated urinary uroporphyrin level\n", + " definition of HP:6000805 (Elevated urinary uroporphyrin level)\n", + " \n", + " \n", + " The amount of uroporphyrin in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000805 (Elevated urinary uroporphyrin level)\n", + " \n", + " \n", + " Sacrococcygeal pilonidal abnormality\n", + " definition of HP:0010767 (Sacrococcygeal pilonidal abnormality)\n", + " \n", + " \n", + " The presence of a cyst, fistula, or abscess in the sacrococcygeal region (gluteal crease) characteristically accompanied by hair and skin folds.\n", + " definition of HP:0010767 (Sacrococcygeal pilonidal abnormality)\n", + " \n", + " \n", + " Cutis marmorata\n", + " definition of HP:0000965 (Cutis marmorata)\n", + " \n", + " \n", + " A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather.\n", + " definition of HP:0000965 (Cutis marmorata)\n", + " \n", + " \n", + " Bite cells\n", + " definition of HP:0020122 (Bite cells)\n", + " \n", + " \n", + " Red blood cells that appear to have parts of them bitten away.\n", + " definition of HP:0020122 (Bite cells)\n", + " \n", + " \n", + " #Blister cells #Degmacytes\n", + " definition of HP:0020122 (Bite cells)\n", + " \n", + " \n", + " Pelvic girdle muscle atrophy\n", + " definition of HP:0008988 (Pelvic girdle muscle atrophy)\n", + " \n", + " \n", + " Muscular atrophy affecting the muscles that attach to the pelvic girdle (the gluteal muscles, the lateral rotators, adductor magnus, adductor brevis, adductor longus, pectineus, and gracilis muscles).\n", + " definition of HP:0008988 (Pelvic girdle muscle atrophy)\n", + " \n", + " \n", + " #Pelvic girdle muscle wasting\n", + " definition of HP:0008988 (Pelvic girdle muscle atrophy)\n", + " \n", + " \n", + " Addictive methylphenidate use\n", + " definition of HP:0033518 (Addictive methylphenidate use)\n", + " \n", + " \n", + " Addiction to methylphenidate.\n", + " definition of HP:0033518 (Addictive methylphenidate use)\n", + " \n", + " \n", + " #Methylphenidate addiction #Methylphenidate dependence\n", + " definition of HP:0033518 (Addictive methylphenidate use)\n", + " \n", + " \n", + " Skin-colored papule\n", + " definition of HP:0025512 (Skin-colored papule)\n", + " \n", + " \n", + " A papule with the same color as the surrounding skin.\n", + " definition of HP:0025512 (Skin-colored papule)\n", + " \n", + " \n", + " #Flesh-colored papule\n", + " definition of HP:0025512 (Skin-colored papule)\n", + " \n", + " \n", + " Narcolepsy\n", + " definition of HP:0030050 (Narcolepsy)\n", + " \n", + " \n", + " An abnormal phenomenon characterized by a classic tetrad of excessive daytime sleepiness with irresistible sleep attacks, cataplexy (sudden bilateral loss of muscle tone), hypnagogic hallucinations, and sleep paralysis.\n", + " definition of HP:0030050 (Narcolepsy)\n", + " \n", + " \n", + " Skin fragility with non-scarring blistering\n", + " definition of HP:0007585 (Skin fragility with non-scarring blistering)\n", + " \n", + " \n", + " Global brain atrophy\n", + " definition of HP:0002283 (Global brain atrophy)\n", + " \n", + " \n", + " Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size.\n", + " definition of HP:0002283 (Global brain atrophy)\n", + " \n", + " \n", + " #Diffuse brain atrophy #Generalised brain atrophy #Generalised brain degeneration #Generalised cerebral atrophy #Generalized brain atrophy #Generalized brain degeneration #Generalized cerebral atrophy\n", + " definition of HP:0002283 (Global brain atrophy)\n", + " \n", + " \n", + " Saccadic intrusion\n", + " definition of HP:0032114 (Saccadic intrusion)\n", + " \n", + " \n", + " An involuntary abnormality of fixation in which there is an abnormal saccade away from fixation followed by a delayed corrective saccade.\n", + " definition of HP:0032114 (Saccadic intrusion)\n", + " \n", + " \n", + " Ivory epiphysis of the distal phalanx of the hallux\n", + " definition of HP:0010144 (Ivory epiphysis of the distal phalanx of the hallux)\n", + " \n", + " \n", + " #Increased bone density of end part of the outermost bone of the big toe\n", + " definition of HP:0010144 (Ivory epiphysis of the distal phalanx of the hallux)\n", + " \n", + " \n", + " Central corneal dystrophy\n", + " definition of HP:0007881 (Central corneal dystrophy)\n", + " \n", + " \n", + " Reduced red cell adenosine deaminase level\n", + " definition of HP:0030273 (Reduced red cell adenosine deaminase level)\n", + " \n", + " \n", + " Decrease in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine.\n", + " definition of HP:0030273 (Reduced red cell adenosine deaminase level)\n", + " \n", + " \n", + " Absence of intrinsic factor\n", + " definition of HP:0005219 (Absence of intrinsic factor)\n", + " \n", + " \n", + " Absence of gastric intrinsic factor, which is normally produced by the parietal cells of the stomach, and is required for the absorption of vitamin B12.\n", + " definition of HP:0005219 (Absence of intrinsic factor)\n", + " \n", + " \n", + " #Intrinsic factor absent from gastric juice\n", + " definition of HP:0005219 (Absence of intrinsic factor)\n", + " \n", + " \n", + " Low alkaline phosphatase of hepatic origin\n", + " definition of HP:0010686 (Low alkaline phosphatase of hepatic origin)\n", + " \n", + " \n", + " An abnormally reduced level of liver isoforms of alkaline phosphatase in the blood.\n", + " definition of HP:0010686 (Low alkaline phosphatase of hepatic origin)\n", + " \n", + " \n", + " #Low ALP of hepatic origin\n", + " definition of HP:0010686 (Low alkaline phosphatase of hepatic origin)\n", + " \n", + " \n", + " Bullet-shaped middle phalanx of the 3rd finger\n", + " definition of HP:0009431 (Bullet-shaped middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 3rd finger is affected.\n", + " definition of HP:0009431 (Bullet-shaped middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Bullet-shaped middle bone of middle finger\n", + " definition of HP:0009431 (Bullet-shaped middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " Inflammatory arteriopathy\n", + " definition of HP:0005291 (Inflammatory arteriopathy)\n", + " \n", + " \n", + " Bilious emesis\n", + " definition of HP:0034754 (Bilious emesis)\n", + " \n", + " \n", + " Vomiting whereby the vomit has the color of bile, yellowish-green.\n", + " definition of HP:0034754 (Bilious emesis)\n", + " \n", + " \n", + " Multilobulated spleen\n", + " definition of HP:0020186 (Multilobulated spleen)\n", + " \n", + " \n", + " The fetal spleen is lobulated, and these lobules normally disappear before the birth. Lobulation of the spleen may persist into adult life and be typically seen along the medial part of the spleen. A persisting lobule results in a variation in shape of the spleen.\n", + " definition of HP:0020186 (Multilobulated spleen)\n", + " \n", + " \n", + " #Multi-lobulated spleen\n", + " definition of HP:0020186 (Multilobulated spleen)\n", + " \n", + " \n", + " Elevated urinary delta-aminolevulinic acid\n", + " definition of HP:0003163 (Elevated urinary delta-aminolevulinic acid)\n", + " \n", + " \n", + " An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine.\n", + " definition of HP:0003163 (Elevated urinary delta-aminolevulinic acid)\n", + " \n", + " \n", + " #Elevated urinary delta-aminolevulinic acid\n", + " definition of HP:0003163 (Elevated urinary delta-aminolevulinic acid)\n", + " \n", + " \n", + " Small placenta\n", + " definition of HP:0006266 (Small placenta)\n", + " \n", + " \n", + " Reduced size of the placenta.\n", + " definition of HP:0006266 (Small placenta)\n", + " \n", + " \n", + " #Small placenta\n", + " definition of HP:0006266 (Small placenta)\n", + " \n", + " \n", + " Perivascular cardiac fibrosis\n", + " definition of HP:0031328 (Perivascular cardiac fibrosis)\n", + " \n", + " \n", + " A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in perivascular spaces.\n", + " definition of HP:0031328 (Perivascular cardiac fibrosis)\n", + " \n", + " \n", + " Impaired toe-walking ability\n", + " definition of HP:0034052 (Impaired toe-walking ability)\n", + " \n", + " \n", + " Difficulty or reduced ability to walk on toes. Toe-walking can be tested as a part of the neurological examination. Foot plantar flexion weakness leads to difficulties in walking on toes.\n", + " definition of HP:0034052 (Impaired toe-walking ability)\n", + " \n", + " \n", + " Schwannoma\n", + " definition of HP:0100008 (Schwannoma)\n", + " \n", + " \n", + " A benign nerve sheath tumor composed of Schwann cells.\n", + " definition of HP:0100008 (Schwannoma)\n", + " \n", + " \n", + " #Neurilemmoma #Neurinoma #Neurolemmoma #Schwann cell tumor #Schwann cell tumour\n", + " definition of HP:0100008 (Schwannoma)\n", + " \n", + " \n", + " Dilatation of the ductus arteriosus\n", + " definition of HP:0030745 (Dilatation of the ductus arteriosus)\n", + " \n", + " \n", + " Ductus arteriosus aneurysm (DAA) is a saccular dilatation of the ductus arteriosus. DAA can be either congenital or acquired (e.g. as a complication of surgical closure of a patent ductus arteriosus). Although the majority of patients with congenital DAA are asymptomatic and have a benign course, severe complications, such as rupture or thromboembolism, can occur. DAA is likely to emerge in the third trimester from the aortic junction of the DA, extending towards its pulmonary end.\n", + " definition of HP:0030745 (Dilatation of the ductus arteriosus)\n", + " \n", + " \n", + " #Aneurysm of the ductus arteriosus\n", + " definition of HP:0030745 (Dilatation of the ductus arteriosus)\n", + " \n", + " \n", + " Proximal esophageal atresia\n", + " definition of HP:0004403 (Proximal esophageal atresia)\n", + " \n", + " \n", + " Pericardial late gadolinium enhancement\n", + " definition of HP:4000005 (Pericardial late gadolinium enhancement)\n", + " \n", + " \n", + " Areas of high signal intensity in magnetic resonance imaging of the pericardium appearing around 10 minutes after injection of the intercellular contrast agent gadolinium.\n", + " definition of HP:4000005 (Pericardial late gadolinium enhancement)\n", + " \n", + " \n", + " Increased urinary sulfate\n", + " definition of HP:0012613 (Increased urinary sulfate)\n", + " \n", + " \n", + " Elevated concentration of SO4(2-), i.e., sulfate, in the urine.\n", + " definition of HP:0012613 (Increased urinary sulfate)\n", + " \n", + " \n", + " #Increased urinary sulphate\n", + " definition of HP:0012613 (Increased urinary sulfate)\n", + " \n", + " \n", + " Accessory ectopic thyroid tissue\n", + " definition of HP:0100030 (Accessory ectopic thyroid tissue)\n", + " \n", + " \n", + " Accessory ectopic thyroid tissue arising from remnants of the thyroglossal duct anywhere along the path of the thyroglossal duct tract.\n", + " definition of HP:0100030 (Accessory ectopic thyroid tissue)\n", + " \n", + " \n", + " Absent fifth fingernail\n", + " definition of HP:0200104 (Absent fifth fingernail)\n", + " \n", + " \n", + " Absence of nail of little finger.\n", + " definition of HP:0200104 (Absent fifth fingernail)\n", + " \n", + " \n", + " #Absent fifth fingernail #Absent nail of fifth finger\n", + " definition of HP:0200104 (Absent fifth fingernail)\n", + " \n", + " \n", + " Intestinal duplication\n", + " definition of HP:0100668 (Intestinal duplication)\n", + " \n", + " \n", + " A developmental disorder in which there is a duplication the entire intestine or of a portion of the intestine.\n", + " definition of HP:0100668 (Intestinal duplication)\n", + " \n", + " \n", + " #Bowel duplication\n", + " definition of HP:0100668 (Intestinal duplication)\n", + " \n", + " \n", + " Impaired phorbol myristate acetate-induced platelet aggregation\n", + " definition of HP:0031129 (Impaired phorbol myristate acetate-induced platelet aggregation)\n", + " \n", + " \n", + " Abnormal response to phorbol myristate acetate (PMA) as manifested by reduced or lacking aggregation of platelets upon addition of PMA.\n", + " definition of HP:0031129 (Impaired phorbol myristate acetate-induced platelet aggregation)\n", + " \n", + " \n", + " Anti-PM-Scl100 antibody positivity\n", + " definition of HP:0034085 (Anti-PM-Scl100 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against PM-Scl100.\n", + " definition of HP:0034085 (Anti-PM-Scl100 antibody positivity)\n", + " \n", + " \n", + " Dental malocclusion\n", + " definition of HP:0000689 (Dental malocclusion)\n", + " \n", + " \n", + " Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns.\n", + " definition of HP:0000689 (Dental malocclusion)\n", + " \n", + " \n", + " #Bad bite #Bilateral crossbite #Bilateral crossbite malocclusion #Incorrect relation between upper and lower dental arches #Malalignment of upper and lower dental arches #Malocclusion #Malocclusion of teeth #Misalignment of upper and lower dental arches #Occlusion anomaly\n", + " definition of HP:0000689 (Dental malocclusion)\n", + " \n", + " \n", + " Cortical radial artery medial/intimal granulomatous arteriitis\n", + " definition of HP:0033962 (Cortical radial artery medial/intimal granulomatous arteriitis)\n", + " \n", + " \n", + " A type of cortical radial artery medial/intimal arteriitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries.\n", + " definition of HP:0033962 (Cortical radial artery medial/intimal granulomatous arteriitis)\n", + " \n", + " \n", + " Juvenile rheumatoid arthritis\n", + " definition of HP:0005681 (Juvenile rheumatoid arthritis)\n", + " \n", + " \n", + " #Juvenile idiopathic arthritis #Juvenile RA #Rheumatoid arthritis, juvenile\n", + " definition of HP:0005681 (Juvenile rheumatoid arthritis)\n", + " \n", + " \n", + " Elevated urinary 2-oxoisocaproic level\n", + " definition of HP:6000599 (Elevated urinary 2-oxoisocaproic level)\n", + " \n", + " \n", + " The amount of 2-oxoisocaproic in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000599 (Elevated urinary 2-oxoisocaproic level)\n", + " \n", + " \n", + " Stippling of the epiphysis of the distal phalanx of the 2nd finger\n", + " definition of HP:0009511 (Stippling of the epiphysis of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd finger.\n", + " definition of HP:0009511 (Stippling of the epiphysis of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Speckled calcifications in end part of the outermost bone of the index finger\n", + " definition of HP:0009511 (Stippling of the epiphysis of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Sclerotic forearm bones\n", + " definition of HP:0003967 (Sclerotic forearm bones)\n", + " \n", + " \n", + " #Increased bone density of forearm bones\n", + " definition of HP:0003967 (Sclerotic forearm bones)\n", + " \n", + " \n", + " Onychogryposis of toenails\n", + " definition of HP:0008401 (Onychogryposis of toenails)\n", + " \n", + " \n", + " Thickened toenails.\n", + " definition of HP:0008401 (Onychogryposis of toenails)\n", + " \n", + " \n", + " #Overgrowth and curving of toenails\n", + " definition of HP:0008401 (Onychogryposis of toenails)\n", + " \n", + " \n", + " Anti-Complement factor H antibody positivity\n", + " definition of HP:0034001 (Anti-Complement factor H antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against complement factor H.\n", + " definition of HP:0034001 (Anti-Complement factor H antibody positivity)\n", + " \n", + " \n", + " #CFH autoantibodies\n", + " definition of HP:0034001 (Anti-Complement factor H antibody positivity)\n", + " \n", + " \n", + " Deviated nasal septum\n", + " definition of HP:0004411 (Deviated nasal septum)\n", + " \n", + " \n", + " Positioning of the nasal septum to the right or left in contrast to the normal midline position of the nasal septum.\n", + " definition of HP:0004411 (Deviated nasal septum)\n", + " \n", + " \n", + " #Crooked nasal septum #Crooked septum of nose #Deviated nasal septum #Deviated septum of nose\n", + " definition of HP:0004411 (Deviated nasal septum)\n", + " \n", + " \n", + " Aortopulmonary collateral arteries\n", + " definition of HP:0031834 (Aortopulmonary collateral arteries)\n", + " \n", + " \n", + " Small ectopic arteries or arterial branches that connect the aorta, aortic branches and/or subclavian artery regions directly to the lung parenchyma, usually seen in conjunction with pulmonary atresia, ventricular septal defect (VSD) and/or closed ductus arteriosus.\n", + " definition of HP:0031834 (Aortopulmonary collateral arteries)\n", + " \n", + " \n", + " Fetal tetracycline exposure\n", + " definition of HP:0034848 (Fetal tetracycline exposure)\n", + " \n", + " \n", + " A history of exposure during pregnancy of the mother of a fetus or child to tetracycline.\n", + " definition of HP:0034848 (Fetal tetracycline exposure)\n", + " \n", + " \n", + " #Maternal tetracycline exposure #Tetracycline exposure during gestation\n", + " definition of HP:0034848 (Fetal tetracycline exposure)\n", + " \n", + " \n", + " Hypoplastic pulmonary veins\n", + " definition of HP:0005304 (Hypoplastic pulmonary veins)\n", + " \n", + " \n", + " #Underdeveloped lung veins\n", + " definition of HP:0005304 (Hypoplastic pulmonary veins)\n", + " \n", + " \n", + " Juvenile posterior subcapsular lenticular opacities\n", + " definition of HP:0007935 (Juvenile posterior subcapsular lenticular opacities)\n", + " \n", + " \n", + " Exaggerated startle response\n", + " definition of HP:0002267 (Exaggerated startle response)\n", + " \n", + " \n", + " An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face.\n", + " definition of HP:0002267 (Exaggerated startle response)\n", + " \n", + " \n", + " #Exaggerated acoustic startle response #Increased startle response\n", + " definition of HP:0002267 (Exaggerated startle response)\n", + " \n", + " \n", + " Curved proximal phalanges of the hand\n", + " definition of HP:0009854 (Curved proximal phalanges of the hand)\n", + " \n", + " \n", + " #Curved innermost finger bones of the hand\n", + " definition of HP:0009854 (Curved proximal phalanges of the hand)\n", + " \n", + " \n", + " Decreased proportion of CD4-positive helper T cells\n", + " definition of HP:0005407 (Decreased proportion of CD4-positive helper T cells)\n", + " \n", + " \n", + " A decreased proportion of circulating CD4-positive helper T cells relative to total T cell count.\n", + " definition of HP:0005407 (Decreased proportion of CD4-positive helper T cells)\n", + " \n", + " \n", + " #Abnormality of CD4+ T cells #CD4 T cell lymphopenia #CD4+ T-cell lymphopenia\n", + " definition of HP:0005407 (Decreased proportion of CD4-positive helper T cells)\n", + " \n", + " \n", + " Absent trapezium\n", + " definition of HP:0004253 (Absent trapezium)\n", + " \n", + " \n", + " #Absent trapezium bone\n", + " definition of HP:0004253 (Absent trapezium)\n", + " \n", + " \n", + " Increased urine glutamate level\n", + " definition of HP:0033094 (Increased urine glutamate level)\n", + " \n", + " \n", + " An increased concentration of glutamate in the urine.\n", + " definition of HP:0033094 (Increased urine glutamate level)\n", + " \n", + " \n", + " #Increased glutamic acid in urine\n", + " definition of HP:0033094 (Increased urine glutamate level)\n", + " \n", + " \n", + " Stratum basale cleavage\n", + " definition of HP:0034193 (Stratum basale cleavage)\n", + " \n", + " \n", + " Cleavage within the epidermal keratinocytes, which is the innermost layer of the epidermis and consists of proliferating cells that give rise to the outer layers of the epidermis.\n", + " definition of HP:0034193 (Stratum basale cleavage)\n", + " \n", + " \n", + " #Blistering with cleavage within basal keratinocytes #Cleavage within the basal keratinocyte layer\n", + " definition of HP:0034193 (Stratum basale cleavage)\n", + " \n", + " \n", + " Paraseptal\n", + " definition of HP:0033814 (Paraseptal)\n", + " \n", + " \n", + " Characterized by predominant involvement of the distal alveoli and their ducts and sacs. It is characteristically bounded by any pleural surface and the interlobular septa.\n", + " definition of HP:0033814 (Paraseptal)\n", + " \n", + " \n", + " Adult onset\n", + " definition of HP:0003581 (Adult onset)\n", + " \n", + " \n", + " Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later.\n", + " definition of HP:0003581 (Adult onset)\n", + " \n", + " \n", + " #Onset in adulthood #Onset in early adulthood #Symptoms begin in adulthood\n", + " definition of HP:0003581 (Adult onset)\n", + " \n", + " \n", + " Tetralogy of Fallot with absent pulmonary valve\n", + " definition of HP:0011659 (Tetralogy of Fallot with absent pulmonary valve)\n", + " \n", + " \n", + " Features of tetralogy of Fallot with either rudimentary ridges or the complete absence of pulmonic valve tissue.\n", + " definition of HP:0011659 (Tetralogy of Fallot with absent pulmonary valve)\n", + " \n", + " \n", + " #Tetralogy of Fallot with absent pulmonary valve syndrome\n", + " definition of HP:0011659 (Tetralogy of Fallot with absent pulmonary valve)\n", + " \n", + " \n", + " Tracheomalacia\n", + " definition of HP:0002779 (Tracheomalacia)\n", + " \n", + " \n", + " #Floppy windpipe\n", + " definition of HP:0002779 (Tracheomalacia)\n", + " \n", + " \n", + " Generalized periodontitis\n", + " definition of HP:0011058 (Generalized periodontitis)\n", + " \n", + " \n", + " A generalized form of periodontitis.\n", + " definition of HP:0011058 (Generalized periodontitis)\n", + " \n", + " \n", + " #Generalised periodontal disease #Generalised periodontitis #Generalized periodontal disease\n", + " definition of HP:0011058 (Generalized periodontitis)\n", + " \n", + " \n", + " Duodenal ulcer\n", + " definition of HP:0002588 (Duodenal ulcer)\n", + " \n", + " \n", + " An erosion of the mucous membrane in a portion of the duodenum.\n", + " definition of HP:0002588 (Duodenal ulcer)\n", + " \n", + " \n", + " Keratinocyte vacuolization\n", + " definition of HP:0034703 (Keratinocyte vacuolization)\n", + " \n", + " \n", + " Increased number of vacuoles (membrane-bound organelles that areempty of cytoplasm, lined with a membrane, and filled with fluid) in keratinocytes.\n", + " definition of HP:0034703 (Keratinocyte vacuolization)\n", + " \n", + " \n", + " #Keratinocyte vacuolation #Vacuolated keratinocytes\n", + " definition of HP:0034703 (Keratinocyte vacuolization)\n", + " \n", + " \n", + " Abnormal esterified to free carnitine ratio\n", + " definition of HP:0033502 (Abnormal esterified to free carnitine ratio)\n", + " \n", + " \n", + " Any deviation from the normal ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine.\n", + " definition of HP:0033502 (Abnormal esterified to free carnitine ratio)\n", + " \n", + " \n", + " Hemiplegia\n", + " definition of HP:0002301 (Hemiplegia)\n", + " \n", + " \n", + " Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body.\n", + " definition of HP:0002301 (Hemiplegia)\n", + " \n", + " \n", + " #Paralysis on one side of body\n", + " definition of HP:0002301 (Hemiplegia)\n", + " \n", + " \n", + " Anti-factor X antibody positivity\n", + " definition of HP:6000496 (Anti-factor X antibody positivity)\n", + " \n", + " \n", + " The presence of an antibody in the blood circulation that is directed against factor X.\n", + " definition of HP:6000496 (Anti-factor X antibody positivity)\n", + " \n", + " \n", + " #Anti-FX antibody positivity\n", + " definition of HP:6000496 (Anti-factor X antibody positivity)\n", + " \n", + " \n", + " Anti-GT1a antibody positivity\n", + " definition of HP:0034128 (Anti-GT1a antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against T1a ganglioside.\n", + " definition of HP:0034128 (Anti-GT1a antibody positivity)\n", + " \n", + " \n", + " Sialadenitis\n", + " definition of HP:0031281 (Sialadenitis)\n", + " \n", + " \n", + " Inflammation of a salivary gland.\n", + " definition of HP:0031281 (Sialadenitis)\n", + " \n", + " \n", + " Reduced erythrocyte adenylate kinase activity\n", + " definition of HP:6000558 (Reduced erythrocyte adenylate kinase activity)\n", + " \n", + " \n", + " Activity or concentration of in the level of adenylate kinase (EC 2.7.4.3) in erythrocytes below the lower limit of normal. Adenylate kinase is a ubiquitous monomeric enzyme that catalyzes the reversible conversion of MgATP plus AMP to MgADP plus ADP and contributes to homeostasis of the adenine nucleotide composition in the cell.\n", + " definition of HP:6000558 (Reduced erythrocyte adenylate kinase activity)\n", + " \n", + " \n", + " Complete duplication of the proximal phalanx of the 5th toe\n", + " definition of HP:0100415 (Complete duplication of the proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " Complete duplication of the proximal phalanx of fifth toe.\n", + " definition of HP:0100415 (Complete duplication of the proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " #Complete duplication of the innermost bone of the little toe #Complete duplication of the innermost bone of the pinkie toe #Complete duplication of the innermost bone of the pinky toe #Complete duplication of the proximal phalanx of the fifth toe\n", + " definition of HP:0100415 (Complete duplication of the proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines\n", + " definition of HP:0007402 (Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines)\n", + " \n", + " \n", + " Scleral thickening\n", + " definition of HP:0030823 (Scleral thickening)\n", + " \n", + " \n", + " Increased dimension of the sclera in the anterior-posterior axis.\n", + " definition of HP:0030823 (Scleral thickening)\n", + " \n", + " \n", + " #Thick sclera\n", + " definition of HP:0030823 (Scleral thickening)\n", + " \n", + " \n", + " Cone-shaped epiphysis of the proximal phalanx of the hallux\n", + " definition of HP:0010129 (Cone-shaped epiphysis of the proximal phalanx of the hallux)\n", + " \n", + " \n", + " #Cone-shaped end part of the innermost bone of the big toe\n", + " definition of HP:0010129 (Cone-shaped epiphysis of the proximal phalanx of the hallux)\n", + " \n", + " \n", + " Pulmonary cavity\n", + " definition of HP:0033655 (Pulmonary cavity)\n", + " \n", + " \n", + " A gas-filled space, seen as lucency or low-attenuation area, within a nodule, mass or area of parenchymal consolidations. It has a clearly defined wall over 4 mm thick.\n", + " definition of HP:0033655 (Pulmonary cavity)\n", + " \n", + " \n", + " #Pulmonary cavern #Pulmonary cavitation\n", + " definition of HP:0033655 (Pulmonary cavity)\n", + " \n", + " \n", + " Silver-gray hair\n", + " definition of HP:0002218 (Silver-gray hair)\n", + " \n", + " \n", + " Hypopigmented hair that appears silver-gray.\n", + " definition of HP:0002218 (Silver-gray hair)\n", + " \n", + " \n", + " #Silver-gray hair #Silver-gray hair color #Silver-gray hair colour #Silvery-gray hair\n", + " definition of HP:0002218 (Silver-gray hair)\n", + " \n", + " \n", + " Leydig cell insensitivity to gonadotropin\n", + " definition of HP:0002929 (Leydig cell insensitivity to gonadotropin)\n", + " \n", + " \n", + " Pinhole visual acuity 1.1 LogMAR\n", + " definition of HP:0030579 (Pinhole visual acuity 1.1 LogMAR)\n", + " \n", + " \n", + " Foveal degeneration\n", + " definition of HP:0025146 (Foveal degeneration)\n", + " \n", + " \n", + " Deterioration of the tissue of the fovea, i.e.,the region of sharpest vision within the macula of the retina.\n", + " definition of HP:0025146 (Foveal degeneration)\n", + " \n", + " \n", + " Astereognosis\n", + " definition of HP:0010527 (Astereognosis)\n", + " \n", + " \n", + " Tactile agnosia refers to the inability to recognize objects by touch, while the inability to discriminate shape and size by touch is also a related condition.\n", + " definition of HP:0010527 (Astereognosis)\n", + " \n", + " \n", + " #Astereognosis #Somatosensory agnosia\n", + " definition of HP:0010527 (Astereognosis)\n", + " \n", + " \n", + " Stippling of the epiphysis of the middle phalanx of the 4th finger\n", + " definition of HP:0009223 (Stippling of the epiphysis of the middle phalanx of the 4th finger)\n", + " \n", + " \n", + " The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 4th finger.\n", + " definition of HP:0009223 (Stippling of the epiphysis of the middle phalanx of the 4th finger)\n", + " \n", + " \n", + " #Speckled calcifications in end part of the middle bone of the ring finger\n", + " definition of HP:0009223 (Stippling of the epiphysis of the middle phalanx of the 4th finger)\n", + " \n", + " \n", + " Abnormal urine carbohydrate level\n", + " definition of HP:0031979 (Abnormal urine carbohydrate level)\n", + " \n", + " \n", + " Any deviation from the normal concentration of a carbohydrate in the urine.\n", + " definition of HP:0031979 (Abnormal urine carbohydrate level)\n", + " \n", + " \n", + " Delayed umbilical cord separation\n", + " definition of HP:0032434 (Delayed umbilical cord separation)\n", + " \n", + " \n", + " Separation of the umbilical cord occurs at an abnormally late timepoint.\n", + " definition of HP:0032434 (Delayed umbilical cord separation)\n", + " \n", + " \n", + " #Delayed separation of umbilical cord\n", + " definition of HP:0032434 (Delayed umbilical cord separation)\n", + " \n", + " \n", + " Elevated serum bicarbonate concentration\n", + " definition of HP:0032067 (Elevated serum bicarbonate concentration)\n", + " \n", + " \n", + " An abnormal increase in the concentration of bicarbonate, HCO3[-], in the circulation.\n", + " definition of HP:0032067 (Elevated serum bicarbonate concentration)\n", + " \n", + " \n", + " #Elevated serum HCO3 concentration\n", + " definition of HP:0032067 (Elevated serum bicarbonate concentration)\n", + " \n", + " \n", + " Cervical C2/C3 vertebral fusion\n", + " definition of HP:0004602 (Cervical C2/C3 vertebral fusion)\n", + " \n", + " \n", + " Fusion of cervical vertebrae at C2 and C3, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development, leading to a short neck with a low hairline at the back of the head, and restricted mobility of the upper spine.\n", + " definition of HP:0004602 (Cervical C2/C3 vertebral fusion)\n", + " \n", + " \n", + " #Fusion of cervical vertebrae c2-3 #Klippel-Feil anomaly #Klippel-Feil syndrome\n", + " definition of HP:0004602 (Cervical C2/C3 vertebral fusion)\n", + " \n", + " \n", + " Gemination\n", + " definition of HP:0011091 (Gemination)\n", + " \n", + " \n", + " The development of two teeth from a single tooth bud, leading to a larger fused tooth.\n", + " definition of HP:0011091 (Gemination)\n", + " \n", + " \n", + " #Gemination of tooth #Splitting of crown of tooth\n", + " definition of HP:0011091 (Gemination)\n", + " \n", + " \n", + " Abnormal renal arteriole morphology\n", + " definition of HP:0033889 (Abnormal renal arteriole morphology)\n", + " \n", + " \n", + " Any structural anomaly of the glomerular arterioles. The interlobar arteries of the kidney branch into arcuate arteries, cortical radiate arteries, and then into afferent arterioles. After passing through the renal corpuscle, the capillaries form the efferent arteriole. The afferent and efferent arterioles are difficult to distinguish histologically and are thus both included in this term and its descendents.\n", + " definition of HP:0033889 (Abnormal renal arteriole morphology)\n", + " \n", + " \n", + " Schistocytosis\n", + " definition of HP:0001981 (Schistocytosis)\n", + " \n", + " \n", + " The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood.\n", + " definition of HP:0001981 (Schistocytosis)\n", + " \n", + " \n", + " #Schistocytes\n", + " definition of HP:0001981 (Schistocytosis)\n", + " \n", + " \n", + " Elongated radius\n", + " definition of HP:0006424 (Elongated radius)\n", + " \n", + " \n", + " Increased length of the radius.\n", + " definition of HP:0006424 (Elongated radius)\n", + " \n", + " \n", + " Contracture of proximal interphalangeal joints of 2nd-5th fingers\n", + " definition of HP:0030675 (Contracture of proximal interphalangeal joints of 2nd-5th fingers)\n", + " \n", + " \n", + " Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd, 3rd, 4th, and 5th fingers due to structural changes in non-bony tissue.\n", + " definition of HP:0030675 (Contracture of proximal interphalangeal joints of 2nd-5th fingers)\n", + " \n", + " \n", + " Fasciitis\n", + " definition of HP:0100537 (Fasciitis)\n", + " \n", + " \n", + " Inflammation of fascia, the tissue under the skin and over the muscle.\n", + " definition of HP:0100537 (Fasciitis)\n", + " \n", + " \n", + " #Inflammation of the fascia\n", + " definition of HP:0100537 (Fasciitis)\n", + " \n", + " \n", + " Abnormal monocyte morphology\n", + " definition of HP:0012144 (Abnormal monocyte morphology)\n", + " \n", + " \n", + " Any structural anomaly of a myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells.\n", + " definition of HP:0012144 (Abnormal monocyte morphology)\n", + " \n", + " \n", + " Fetal extra-axial hemorrhage\n", + " definition of HP:0034212 (Fetal extra-axial hemorrhage)\n", + " \n", + " \n", + " A type of fetal intracranial hemorrhage with bleeding that occurs within the skull but outside of the brain tissue itself (into the epidural, subdural, or arachnoid space).\n", + " definition of HP:0034212 (Fetal extra-axial hemorrhage)\n", + " \n", + " \n", + " Abnormal semantics\n", + " definition of HP:0025773 (Abnormal semantics)\n", + " \n", + " \n", + " Odd use of words that are out of context and inappropriate for the social situation.\n", + " definition of HP:0025773 (Abnormal semantics)\n", + " \n", + " \n", + " Lester's sign\n", + " definition of HP:0009781 (Lester's sign)\n", + " \n", + " \n", + " A zone of darker pigmentation around the central part of the iris with a roughly cloverleaf or flower shape.\n", + " definition of HP:0009781 (Lester's sign)\n", + " \n", + " \n", + " Enlarged epiphysis of the distal phalanx of the thumb\n", + " definition of HP:0009678 (Enlarged epiphysis of the distal phalanx of the thumb)\n", + " \n", + " \n", + " Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms.\n", + " definition of HP:0009678 (Enlarged epiphysis of the distal phalanx of the thumb)\n", + " \n", + " \n", + " #Enlarged end part of thumb outermost long bone #Large terminal thumb phalanx epiphysis\n", + " definition of HP:0009678 (Enlarged epiphysis of the distal phalanx of the thumb)\n", + " \n", + " \n", + " Arcuate artery endoarterial hypercellularity\n", + " definition of HP:0033903 (Arcuate artery endoarterial hypercellularity)\n", + " \n", + " \n", + " Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the arcuate arteries of the kidney.\n", + " definition of HP:0033903 (Arcuate artery endoarterial hypercellularity)\n", + " \n", + " \n", + " #Endoarterial hypercellularity within arcuate artery\n", + " definition of HP:0033903 (Arcuate artery endoarterial hypercellularity)\n", + " \n", + " \n", + " Sclerosis of 5th toe phalanx\n", + " definition of HP:0100929 (Sclerosis of 5th toe phalanx)\n", + " \n", + " \n", + " An elevation in bone density in one or more phalanges of the fifth toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.\n", + " definition of HP:0100929 (Sclerosis of 5th toe phalanx)\n", + " \n", + " \n", + " #Increased bone density in little toe bone #Increased bone density in pinkie toe bone #Increased bone density in pinky toe bone #Sclerosis of the phalanges of the 5th toe\n", + " definition of HP:0100929 (Sclerosis of 5th toe phalanx)\n", + " \n", + " \n", + " Anosmia\n", + " definition of HP:0000458 (Anosmia)\n", + " \n", + " \n", + " An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell.\n", + " definition of HP:0000458 (Anosmia)\n", + " \n", + " \n", + " #Loss of smell #Lost smell\n", + " definition of HP:0000458 (Anosmia)\n", + " \n", + " \n", + " Elevated circulating alpha-aminoadipic semialdehyde concentration\n", + " definition of HP:0034365 (Elevated circulating alpha-aminoadipic semialdehyde concentration)\n", + " \n", + " \n", + " Increased concentration of alpha-aminoadipic semialdehyde in the blood circulation.\n", + " definition of HP:0034365 (Elevated circulating alpha-aminoadipic semialdehyde concentration)\n", + " \n", + " \n", + " #Elevated circulating piperideine-6-carboxylic acid concentration\n", + " definition of HP:0034365 (Elevated circulating alpha-aminoadipic semialdehyde concentration)\n", + " \n", + " \n", + " Abnormal 3rd finger phalanx morphology\n", + " definition of HP:0009316 (Abnormal 3rd finger phalanx morphology)\n", + " \n", + " \n", + " Abnormality of the phalanges of the 3rd (middle) finger.\n", + " definition of HP:0009316 (Abnormal 3rd finger phalanx morphology)\n", + " \n", + " \n", + " #Abnormality of 3rd finger phalanges #Abnormality of middle finger phalanges #Abnormality of the middle finger bones #Abnormality of the phalanges of the 3rd finger\n", + " definition of HP:0009316 (Abnormal 3rd finger phalanx morphology)\n", + " \n", + " \n", + " Isolated systolic hypertension\n", + " definition of HP:0500106 (Isolated systolic hypertension)\n", + " \n", + " \n", + " Elevated systolic blood pressure without an elevated blood pressure.\n", + " definition of HP:0500106 (Isolated systolic hypertension)\n", + " \n", + " \n", + " Reduced maximal expiratory pressure\n", + " definition of HP:0012497 (Reduced maximal expiratory pressure)\n", + " \n", + " \n", + " A decrease in the maximum amount of pressure of expired air achieved by a person after a full inspiration.\n", + " definition of HP:0012497 (Reduced maximal expiratory pressure)\n", + " \n", + " \n", + " Pyramidal skinfold extending from the base to the top of the nails\n", + " definition of HP:0009758 (Pyramidal skinfold extending from the base to the top of the nails)\n", + " \n", + " \n", + " Pyramidal skinfold extending from the base to the top of the nails is a rare and distinctive anomaly seen in popliteal pterygia syndrome.\n", + " definition of HP:0009758 (Pyramidal skinfold extending from the base to the top of the nails)\n", + " \n", + " \n", + " Closed neural tube defect\n", + " definition of HP:0034238 (Closed neural tube defect)\n", + " \n", + " \n", + " A type of neural tube defect that is covered by skin.\n", + " definition of HP:0034238 (Closed neural tube defect)\n", + " \n", + " \n", + " Abnormal eyelid physiology\n", + " definition of HP:0031879 (Abnormal eyelid physiology)\n", + " \n", + " \n", + " Any functional abnormality of the eyelid.\n", + " definition of HP:0031879 (Abnormal eyelid physiology)\n", + " \n", + " \n", + " Reduced muscle phosphoglycerate kinase activity\n", + " definition of HP:0034527 (Reduced muscle phosphoglycerate kinase activity)\n", + " \n", + " \n", + " Reduced activity of phosphoglycerate kinase (PGK) in muscle tissue. PGK is a glycolytic enzyme that catalyzes one of the two ATP-producing reactions in the glycolytic pathway, through the conversion of 1,3-bisphosphoglycerate to 3-phosphoglycerate.\n", + " definition of HP:0034527 (Reduced muscle phosphoglycerate kinase activity)\n", + " \n", + " \n", + " Posterior predominant thick cortex pachygyria\n", + " definition of HP:0020189 (Posterior predominant thick cortex pachygyria)\n", + " \n", + " \n", + " Pachygyria with cortical thickness above 10 mm with and a posterior predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria.\n", + " definition of HP:0020189 (Posterior predominant thick cortex pachygyria)\n", + " \n", + " \n", + " #Occipital predomimant classic pachygyria #Pachygyria with cortical thickness over 10 mm posterior predominant\n", + " definition of HP:0020189 (Posterior predominant thick cortex pachygyria)\n", + " \n", + " \n", + " Triggered by ethanol ingestion\n", + " definition of HP:0025211 (Triggered by ethanol ingestion)\n", + " \n", + " \n", + " Applies to a sign or symptom that is provoked or brought about by drinking or otherwise ingesting ethanol.\n", + " definition of HP:0025211 (Triggered by ethanol ingestion)\n", + " \n", + " \n", + " #Ethanol ingestion triggered symptoms\n", + " definition of HP:0025211 (Triggered by ethanol ingestion)\n", + " \n", + " \n", + " Schmorl's node\n", + " definition of HP:0030041 (Schmorl's node)\n", + " \n", + " \n", + " A Schmorl's node is the herniation of nucleus pulposus through the cartilaginous and bony end plate into the body of the adjacent vertebra.\n", + " definition of HP:0030041 (Schmorl's node)\n", + " \n", + " \n", + " #Schmorl's nodes\n", + " definition of HP:0030041 (Schmorl's node)\n", + " \n", + " \n", + " Osteolytic defects of the middle phalanx of the 5th finger\n", + " definition of HP:0009170 (Osteolytic defects of the middle phalanx of the 5th finger)\n", + " \n", + " \n", + " Dissolution or degeneration of bone tissue of the middle phalanx of the 5th finger.\n", + " definition of HP:0009170 (Osteolytic defects of the middle phalanx of the 5th finger)\n", + " \n", + " \n", + " Bladder outlet obstruction\n", + " definition of HP:0041047 (Bladder outlet obstruction)\n", + " \n", + " \n", + " A compression or resistance upon the bladder outflow channel at any location from the bladder neck to urethral meatus, which usually causes lower urinary tract symptoms (LUTS).\n", + " definition of HP:0041047 (Bladder outlet obstruction)\n", + " \n", + " \n", + " #Obstruction of bladder outlet\n", + " definition of HP:0041047 (Bladder outlet obstruction)\n", + " \n", + " \n", + " Intratubular calcium phosphate casts\n", + " definition of HP:0032960 (Intratubular calcium phosphate casts)\n", + " \n", + " \n", + " Purple and finely granular/laminated calcium- and phosphate-containing casts located within the tubuli of the kidney.\n", + " definition of HP:0032960 (Intratubular calcium phosphate casts)\n", + " \n", + " \n", + " Increased circulating beta-2-microglobulin level\n", + " definition of HP:0025346 (Increased circulating beta-2-microglobulin level)\n", + " \n", + " \n", + " Elevated concentration of beta-2-microglobulin in the blood.\n", + " definition of HP:0025346 (Increased circulating beta-2-microglobulin level)\n", + " \n", + " \n", + " #Elevated circulating beta-2-microglobulin level\n", + " definition of HP:0025346 (Increased circulating beta-2-microglobulin level)\n", + " \n", + " \n", + " Pseudoepiphysis of the proximal phalanx of the thumb\n", + " definition of HP:0009671 (Pseudoepiphysis of the proximal phalanx of the thumb)\n", + " \n", + " \n", + " A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of the proximal phalanx of the thumb.\n", + " definition of HP:0009671 (Pseudoepiphysis of the proximal phalanx of the thumb)\n", + " \n", + " \n", + " Absent middle phalanx of 2nd finger\n", + " definition of HP:0009576 (Absent middle phalanx of 2nd finger)\n", + " \n", + " \n", + " Absence of the middle phalanx of the index (2nd) finger.\n", + " definition of HP:0009576 (Absent middle phalanx of 2nd finger)\n", + " \n", + " \n", + " #Absent middle bone of index finger #Absent middle phalanx of index finger #Aplasia of the middle phalanx of the 2nd finger\n", + " definition of HP:0009576 (Absent middle phalanx of 2nd finger)\n", + " \n", + " \n", + " Meconium ileus\n", + " definition of HP:0004401 (Meconium ileus)\n", + " \n", + " \n", + " Obstruction of the intestine due to abnormally thick meconium.\n", + " definition of HP:0004401 (Meconium ileus)\n", + " \n", + " \n", + " #Meconium ileus in neonates\n", + " definition of HP:0004401 (Meconium ileus)\n", + " \n", + " \n", + " Reduced leukocyte arylsulfatase A activity\n", + " definition of HP:0034863 (Reduced leukocyte arylsulfatase A activity)\n", + " \n", + " \n", + " Concentration or activity of the lysosomal enzyme arylsulfatase A (EC 3.1.6.8) as measured in leukocytes is below the limits of normal.\n", + " definition of HP:0034863 (Reduced leukocyte arylsulfatase A activity)\n", + " \n", + " \n", + " Hypernasal speech\n", + " definition of HP:0001611 (Hypernasal speech)\n", + " \n", + " \n", + " A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages.\n", + " definition of HP:0001611 (Hypernasal speech)\n", + " \n", + " \n", + " #Hypernasal voice #Nasal speech #Nasal voice\n", + " definition of HP:0001611 (Hypernasal speech)\n", + " \n", + " \n", + " Y-linked inheritance\n", + " definition of HP:0001450 (Y-linked inheritance)\n", + " \n", + " \n", + " A mode of inheritance that is observed for traits related to a gene encoded on the Y chromosome.\n", + " definition of HP:0001450 (Y-linked inheritance)\n", + " \n", + " \n", + " #monoallelic_Y_hemizygous #Y-linked\n", + " definition of HP:0001450 (Y-linked inheritance)\n", + " \n", + " \n", + " Portal inflammation\n", + " definition of HP:0033196 (Portal inflammation)\n", + " \n", + " \n", + " Infiltration of portal fields by inflammatory cells.\n", + " definition of HP:0033196 (Portal inflammation)\n", + " \n", + " \n", + " #Hepatic portal inflammation\n", + " definition of HP:0033196 (Portal inflammation)\n", + " \n", + " \n", + " Carnitinuria\n", + " definition of HP:0020077 (Carnitinuria)\n", + " \n", + " \n", + " An elevated level of carnitine in the urine.\n", + " definition of HP:0020077 (Carnitinuria)\n", + " \n", + " \n", + " #Carnitine high in urine\n", + " definition of HP:0020077 (Carnitinuria)\n", + " \n", + " \n", + " Umbilical cord knot\n", + " definition of HP:0030655 (Umbilical cord knot)\n", + " \n", + " \n", + " An entwining of a segment of umbilical cord, usually without obstructing fetal circulation and commonly result from fetal slippage through a loop of the cord.\n", + " definition of HP:0030655 (Umbilical cord knot)\n", + " \n", + " \n", + " Superior rectus muscle weakness\n", + " definition of HP:0031744 (Superior rectus muscle weakness)\n", + " \n", + " \n", + " Decreased strength of the superior rectus muscle.\n", + " definition of HP:0031744 (Superior rectus muscle weakness)\n", + " \n", + " \n", + " Axial malrotation of the kidney\n", + " definition of HP:0004717 (Axial malrotation of the kidney)\n", + " \n", + " \n", + " An abnormality of the normal developmental rotation of the kidney leading to an abnormal axial orientation of the kidney.\n", + " definition of HP:0004717 (Axial malrotation of the kidney)\n", + " \n", + " \n", + " Increased cellular sensitivity to UV light\n", + " definition of HP:0003224 (Increased cellular sensitivity to UV light)\n", + " \n", + " \n", + " Thymic carcinoid tumor\n", + " definition of HP:0034954 (Thymic carcinoid tumor)\n", + " \n", + " \n", + " A primary thymic neuroendocrine tumor.\n", + " definition of HP:0034954 (Thymic carcinoid tumor)\n", + " \n", + " \n", + " Perifoveal ring of hyperautofluorescence\n", + " definition of HP:0030629 (Perifoveal ring of hyperautofluorescence)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the vagina\n", + " definition of HP:0011026 (Aplasia/Hypoplasia of the vagina)\n", + " \n", + " \n", + " Aplasia or developmental hypoplasia of the vagina.\n", + " definition of HP:0011026 (Aplasia/Hypoplasia of the vagina)\n", + " \n", + " \n", + " #Absent/small vagina #Absent/underdeveloped vagina\n", + " definition of HP:0011026 (Aplasia/Hypoplasia of the vagina)\n", + " \n", + " \n", + " Gustatory lacrimation\n", + " definition of HP:0100274 (Gustatory lacrimation)\n", + " \n", + " \n", + " Gustatory lacrimation results from an aberrant innervation of fibers from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal.\n", + " definition of HP:0100274 (Gustatory lacrimation)\n", + " \n", + " \n", + " Posterior blepharitis\n", + " definition of HP:0025610 (Posterior blepharitis)\n", + " \n", + " \n", + " A type of blepharitis that affects the meibomian glands and meibomian gland orifices. This abnormality can be associated with a spectrum of appearances ranging from meibomian seborrhoea (foaming meibomian gland secretions) and meibomianitis (inflamed meibomian glands), to chalazia.\n", + " definition of HP:0025610 (Posterior blepharitis)\n", + " \n", + " \n", + " #Meibomian gland dysfunction\n", + " definition of HP:0025610 (Posterior blepharitis)\n", + " \n", + " \n", + " Retinal neovascularization\n", + " definition of HP:0030666 (Retinal neovascularization)\n", + " \n", + " \n", + " In wound repair, neovascularization (NV) involves the sprouting of new vessels from pre-existent vessels to repair or replace damaged vessels. In the retina, NV is a response to ischemia. The NV adheres to the inner surface of the retina and outer surface of the vitreous. NV are deficient in tight junctions and hence leak plasma into surrounding tissue including the vitreous. Plasma causes the vitreous gel to degenerate, contract, and eventually collapse which pulls on the retina. Since retinal NV is adherent to both retina and vitreous, as the vitreous contracts the NV may be sheared resulting in vitreous hemorrhage or the NV may remain intact and pull the retina with the vitreous resulting in retinal elevation referred to as traction retinal detachment.\n", + " definition of HP:0030666 (Retinal neovascularization)\n", + " \n", + " \n", + " #Retinal neovascularisation\n", + " definition of HP:0030666 (Retinal neovascularization)\n", + " \n", + " \n", + " Thickened glomerular basement membrane\n", + " definition of HP:0004722 (Thickened glomerular basement membrane)\n", + " \n", + " \n", + " Prominent glomerular basement membrane (GBM), reflecting an increase in thickness (subjective estimate) of the basal lamina of the glomerulus of the kidney.\n", + " definition of HP:0004722 (Thickened glomerular basement membrane)\n", + " \n", + " \n", + " Mild malformation of cortical development\n", + " definition of HP:0032059 (Mild malformation of cortical development)\n", + " \n", + " \n", + " A malformation of cortical development characterized by mild abnormalities of the cortex: excessive heterotopic neurons in Layer 1 or microscopic neuronal clusters or excess of single neurons of normal morphology in deep white matter.\n", + " definition of HP:0032059 (Mild malformation of cortical development)\n", + " \n", + " \n", + " Focal aware sexual automatism seizure\n", + " definition of HP:0032917 (Focal aware sexual automatism seizure)\n", + " \n", + " \n", + " A type of focal automatism seizure characterized by involuntary sexual behavior at onset and during which awareness is fully retained throughout.\n", + " definition of HP:0032917 (Focal aware sexual automatism seizure)\n", + " \n", + " \n", + " Abnormal pons morphology\n", + " definition of HP:0007361 (Abnormal pons morphology)\n", + " \n", + " \n", + " A structural abnormality of the pons.\n", + " definition of HP:0007361 (Abnormal pons morphology)\n", + " \n", + " \n", + " #Abnormality of the pons\n", + " definition of HP:0007361 (Abnormal pons morphology)\n", + " \n", + " \n", + " Paraproteinemia\n", + " definition of HP:0031047 (Paraproteinemia)\n", + " \n", + " \n", + " An abnormal immunoglobulin or part of an Ig (light chain) in the circulation. Paraproteins are typically produced by a clonal population of B-cell derived plasma cells.\n", + " definition of HP:0031047 (Paraproteinemia)\n", + " \n", + " \n", + " #Monoclonal hypergammaglobulinemia\n", + " definition of HP:0031047 (Paraproteinemia)\n", + " \n", + " \n", + " Short 4th finger\n", + " definition of HP:0009280 (Short 4th finger)\n", + " \n", + " \n", + " Hypoplasia (congenital reduction in size) of the fourth finger, also known as the ring finger.\n", + " definition of HP:0009280 (Short 4th finger)\n", + " \n", + " \n", + " #Hypoplastic/small 4th finger #Short ring finger\n", + " definition of HP:0009280 (Short 4th finger)\n", + " \n", + " \n", + " Pseudoautosomal recessive inheritance\n", + " definition of HP:0034341 (Pseudoautosomal recessive inheritance)\n", + " \n", + " \n", + " A type of pseudoautosomal inheritance that is recessive and in which biallelic males and females both manifest a disease phenotype.\n", + " definition of HP:0034341 (Pseudoautosomal recessive inheritance)\n", + " \n", + " \n", + " #biallelic_PAR\n", + " definition of HP:0034341 (Pseudoautosomal recessive inheritance)\n", + " \n", + " \n", + " Pericarditis\n", + " definition of HP:0001701 (Pericarditis)\n", + " \n", + " \n", + " Inflammation of the sac-like covering around the heart (pericardium).\n", + " definition of HP:0001701 (Pericarditis)\n", + " \n", + " \n", + " #Swelling or irritation of membrane around heart\n", + " definition of HP:0001701 (Pericarditis)\n", + " \n", + " \n", + " Exacerbated by aspirin exposure\n", + " definition of HP:0032365 (Exacerbated by aspirin exposure)\n", + " \n", + " \n", + " Applied to a sign or symptom that is worsened by ingestion of aspirin.\n", + " definition of HP:0032365 (Exacerbated by aspirin exposure)\n", + " \n", + " \n", + " Facet joint arthrosis\n", + " definition of HP:0030871 (Facet joint arthrosis)\n", + " \n", + " \n", + " Osteoarthritis of facet joints in the spine. Degeneration of cartilage in the facet joints results in bone rubbing on bone and reactive new bone formation visible on X-ray.\n", + " definition of HP:0030871 (Facet joint arthrosis)\n", + " \n", + " \n", + " #Facet arthritis\n", + " definition of HP:0030871 (Facet joint arthrosis)\n", + " \n", + " \n", + " Hypermobility of distal interphalangeal joints\n", + " definition of HP:0006201 (Hypermobility of distal interphalangeal joints)\n", + " \n", + " \n", + " #Increased mobility of outermost hinge joint\n", + " definition of HP:0006201 (Hypermobility of distal interphalangeal joints)\n", + " \n", + " \n", + " Fetal vascular malperfusion\n", + " definition of HP:0025729 (Fetal vascular malperfusion)\n", + " \n", + " \n", + " The term fetal vascular malperfusion (FVM) is used to describe placental pathology that is thought to result from an obstruction in fetal blood flow that could result from a number of conditions (eg, umbilical cord lesions, hypercoagulability, complications of fetal cardiac dysfunction, such as hypoxia, etc.).\n", + " definition of HP:0025729 (Fetal vascular malperfusion)\n", + " \n", + " \n", + " Myelin-dependent gliosis\n", + " definition of HP:0006990 (Myelin-dependent gliosis)\n", + " \n", + " \n", + " A type of gliosis that occurs in the vicinity of injured neurons.\n", + " definition of HP:0006990 (Myelin-dependent gliosis)\n", + " \n", + " \n", + " P wave inversion\n", + " definition of HP:0031600 (P wave inversion)\n", + " \n", + " \n", + " P wave below instead of above the baseline. P-wave inversion in the inferior leads may indicate a non-sinus origin of the P waves.\n", + " definition of HP:0031600 (P wave inversion)\n", + " \n", + " \n", + " Dark yellow urine\n", + " definition of HP:0040321 (Dark yellow urine)\n", + " \n", + " \n", + " An abnormal dark-yellow color of the urine.\n", + " definition of HP:0040321 (Dark yellow urine)\n", + " \n", + " \n", + " Prominent digit pad\n", + " definition of HP:0011298 (Prominent digit pad)\n", + " \n", + " \n", + " A soft tissue prominence of the ventral aspects of the fingertips or toe tips.\n", + " definition of HP:0011298 (Prominent digit pad)\n", + " \n", + " \n", + " #Prominent digit pad\n", + " definition of HP:0011298 (Prominent digit pad)\n", + " \n", + " \n", + " Short femur\n", + " definition of HP:0003097 (Short femur)\n", + " \n", + " \n", + " An abnormal shortening of the femur.\n", + " definition of HP:0003097 (Short femur)\n", + " \n", + " \n", + " #Femoral hypoplasia #Hypoplasia of the femora #Short femurs #Short thighbone\n", + " definition of HP:0003097 (Short femur)\n", + " \n", + " \n", + " Abnormal proportion of CD8-positive, alpha-beta memory T cells\n", + " definition of HP:0410380 (Abnormal proportion of CD8-positive, alpha-beta memory T cells)\n", + " \n", + " \n", + " An abnormal proportion of CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. A CD8-positive, alpha-beta T cell with memory phenotype is CD45RO and CD127-positive. This cell type is also described as being CD25-negative, CD44-high, and CD122-high.\n", + " definition of HP:0410380 (Abnormal proportion of CD8-positive, alpha-beta memory T cells)\n", + " \n", + " \n", + " Bifid distal phalanx of toe\n", + " definition of HP:0001853 (Bifid distal phalanx of toe)\n", + " \n", + " \n", + " #Bifid distal phalanges of toes #Bifid terminal phalanx of toe #Notched outermost bones of toes\n", + " definition of HP:0001853 (Bifid distal phalanx of toe)\n", + " \n", + " \n", + " Reduced maximal inspiratory pressure\n", + " definition of HP:0012496 (Reduced maximal inspiratory pressure)\n", + " \n", + " \n", + " A decrease in the maximum amount of negative pressure a person can generate during an inhalation.\n", + " definition of HP:0012496 (Reduced maximal inspiratory pressure)\n", + " \n", + " \n", + " Perioral hyperpigmentation\n", + " definition of HP:0010802 (Perioral hyperpigmentation)\n", + " \n", + " \n", + " Increased pigmentation, either focal or generalized, of the skin surrounding the vermilion of the lips.\n", + " definition of HP:0010802 (Perioral hyperpigmentation)\n", + " \n", + " \n", + " #Darkening of skin around the mouth #Increased pigmentation around the mouth\n", + " definition of HP:0010802 (Perioral hyperpigmentation)\n", + " \n", + " \n", + " Reduced xanthine dehydrogenase level\n", + " definition of HP:0003534 (Reduced xanthine dehydrogenase level)\n", + " \n", + " \n", + " An abnormal reduction in xanthine dehydrogenase level.\n", + " definition of HP:0003534 (Reduced xanthine dehydrogenase level)\n", + " \n", + " \n", + " Gonadotropin deficiency\n", + " definition of HP:0008213 (Gonadotropin deficiency)\n", + " \n", + " \n", + " A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH).\n", + " definition of HP:0008213 (Gonadotropin deficiency)\n", + " \n", + " \n", + " #Pituitary gonadotropin deficiency\n", + " definition of HP:0008213 (Gonadotropin deficiency)\n", + " \n", + " \n", + " Salivary gland neoplasm\n", + " definition of HP:0100684 (Salivary gland neoplasm)\n", + " \n", + " \n", + " A tumor (abnormal growth of tissue) of a salivary gland.\n", + " definition of HP:0100684 (Salivary gland neoplasm)\n", + " \n", + " \n", + " #Salivary gland neoplasia\n", + " definition of HP:0100684 (Salivary gland neoplasm)\n", + " \n", + " \n", + " Perisylvian FDG hypermetabolism\n", + " definition of HP:0025699 (Perisylvian FDG hypermetabolism)\n", + " \n", + " \n", + " 18F-fluorodeoxyglucose (FDG) positron emission tomography and computed tomography (FDG-PET/CT) evaluates the glucose metabolism of the brain. FDG uptake is interpreted to represent glycolysis. This term therefore represents an abnormally increased FDG uptake (increased glucose metabolism) in the region of the brain that surrounds the Sylvian fissure.\n", + " definition of HP:0025699 (Perisylvian FDG hypermetabolism)\n", + " \n", + " \n", + " #Perisylvian hypermetabolism in FDG PET\n", + " definition of HP:0025699 (Perisylvian FDG hypermetabolism)\n", + " \n", + " \n", + " Abnormal uterine cervix morphology\n", + " definition of HP:0012888 (Abnormal uterine cervix morphology)\n", + " \n", + " \n", + " An anomaly of the neck of the uterus (lower part of the uterus), called the uterine cervix.\n", + " definition of HP:0012888 (Abnormal uterine cervix morphology)\n", + " \n", + " \n", + " #Abnormality of the uterine cervix\n", + " definition of HP:0012888 (Abnormal uterine cervix morphology)\n", + " \n", + " \n", + " Abnormal circulating fibroblast growth factor 23 concentration\n", + " definition of HP:6000489 (Abnormal circulating fibroblast growth factor 23 concentration)\n", + " \n", + " \n", + " The concentration of fibroblast growth factor 23 in the blood circulation is outside of the limits of normal.\n", + " definition of HP:6000489 (Abnormal circulating fibroblast growth factor 23 concentration)\n", + " \n", + " \n", + " Abnormality of nail color\n", + " definition of HP:0100643 (Abnormality of nail color)\n", + " \n", + " \n", + " An anomaly of the color of the nail.\n", + " definition of HP:0100643 (Abnormality of nail color)\n", + " \n", + " \n", + " #Abnormality of nail color #Nail dyschromia\n", + " definition of HP:0100643 (Abnormality of nail color)\n", + " \n", + " \n", + " History of bone marrow transplant\n", + " definition of HP:0032557 (History of bone marrow transplant)\n", + " \n", + " \n", + " A past medical history of hematopoietic stem cell transplantation involving myeloablative chemoradiotherapy followed by stem cell rescue with autologous or human leukocyte antigen (HLA)-matched stem cells derived from a donor.\n", + " definition of HP:0032557 (History of bone marrow transplant)\n", + " \n", + " \n", + " #Status post haematopoietic stem cell transplantation #Status post hematopoietic stem cell transplantation\n", + " definition of HP:0032557 (History of bone marrow transplant)\n", + " \n", + " \n", + " Bifid humerus\n", + " definition of HP:0003864 (Bifid humerus)\n", + " \n", + " \n", + " Clefting affecting the humerus.\n", + " definition of HP:0003864 (Bifid humerus)\n", + " \n", + " \n", + " #Notched long bone in upper arm\n", + " definition of HP:0003864 (Bifid humerus)\n", + " \n", + " \n", + " Abnormal Esterman grid perimetry test\n", + " definition of HP:0030599 (Abnormal Esterman grid perimetry test)\n", + " \n", + " \n", + " The Esterman grid test assays scores visual acuity. The grid consists of 100 units whose unequal size and distribution reflect the unequal functional value of different parts of the field-in effect a weighted or relative-value scale. Because each unit equals 1 percent, a simple count of units yields the functional score in percent.\n", + " definition of HP:0030599 (Abnormal Esterman grid perimetry test)\n", + " \n", + " \n", + " Maceration\n", + " definition of HP:0032007 (Maceration)\n", + " \n", + " \n", + " A softening and breaking down of skin resulting from prolonged exposure to moisture. Macerated skin becomes soft and wrinkly and takes on a whitish hue.\n", + " definition of HP:0032007 (Maceration)\n", + " \n", + " \n", + " #Maceration of the skin #Skin maceration\n", + " definition of HP:0032007 (Maceration)\n", + " \n", + " \n", + " Increased serine family amino acid in urine\n", + " definition of HP:0033099 (Increased serine family amino acid in urine)\n", + " \n", + " \n", + " An increased level of a serine family amino acid in the urine.\n", + " definition of HP:0033099 (Increased serine family amino acid in urine)\n", + " \n", + " \n", + " APUdoma\n", + " definition of HP:0040192 (APUdoma)\n", + " \n", + " \n", + " An endocrine tumor arising from an APUD cell.\n", + " definition of HP:0040192 (APUdoma)\n", + " \n", + " \n", + " #amine precursor uptake and decarboxylation tumors #amine precursor uptake and decarboxylation tumours\n", + " definition of HP:0040192 (APUdoma)\n", + " \n", + " \n", + " Acute emergence over days\n", + " definition of HP:0025308 (Acute emergence over days)\n", + " \n", + " \n", + " Acute appearance of disease manifestations in a period of days.\n", + " definition of HP:0025308 (Acute emergence over days)\n", + " \n", + " \n", + " Stiff skin\n", + " definition of HP:0030053 (Stiff skin)\n", + " \n", + " \n", + " An induration (hardening) of the skin\n", + " definition of HP:0030053 (Stiff skin)\n", + " \n", + " \n", + " #Indurated skin #Stiff skin\n", + " definition of HP:0030053 (Stiff skin)\n", + " \n", + " \n", + " Aplasia/Hypoplasia affecting the fundus\n", + " definition of HP:0008057 (Aplasia/Hypoplasia affecting the fundus)\n", + " \n", + " \n", + " #Absent/small fundus\n", + " definition of HP:0008057 (Aplasia/Hypoplasia affecting the fundus)\n", + " \n", + " \n", + " High forehead\n", + " definition of HP:0000348 (High forehead)\n", + " \n", + " \n", + " An abnormally increased height of the forehead.\n", + " definition of HP:0000348 (High forehead)\n", + " \n", + " \n", + " #High forehead\n", + " definition of HP:0000348 (High forehead)\n", + " \n", + " \n", + " Abnormal arcuate artery intima/media morphology\n", + " definition of HP:0033886 (Abnormal arcuate artery intima/media morphology)\n", + " \n", + " \n", + " Anomalous structure of the inner or middle layer of the arc-shaped arteries located at the border of the renal cortex and renal medulla.\n", + " definition of HP:0033886 (Abnormal arcuate artery intima/media morphology)\n", + " \n", + " \n", + " #Abnormalities of the arcuate arterial intima/media\n", + " definition of HP:0033886 (Abnormal arcuate artery intima/media morphology)\n", + " \n", + " \n", + " Effaced lymph-node architecture\n", + " definition of HP:0020235 (Effaced lymph-node architecture)\n", + " \n", + " \n", + " Effacement of architecture typically refers to a cellular infiltrate destroying the normal follicular architecture of a lymph node. This effacement may result in sheets of cells that do not form clear architecture (seen in many lymphomas) or may lead to replacement of the normal architecture by atypical architecture, for example effacement of normal lymph node architecture (including normal follicles and patent lymph node sinuses) by many abnormal follicles in follicular lymphoma.\n", + " definition of HP:0020235 (Effaced lymph-node architecture)\n", + " \n", + " \n", + " Proximal/middle symphalangism of 2nd toe\n", + " definition of HP:0100489 (Proximal/middle symphalangism of 2nd toe)\n", + " \n", + " \n", + " Bony fusion of the middle and proximal phalanges of the 2nd toe.\n", + " definition of HP:0100489 (Proximal/middle symphalangism of 2nd toe)\n", + " \n", + " \n", + " #Fused middle and innermost bones of 2nd toe #Symphalangism of the middle and proximal phalanges of the 2nd toe\n", + " definition of HP:0100489 (Proximal/middle symphalangism of 2nd toe)\n", + " \n", + " \n", + " Pseudoepiphysis of the middle phalanx of the 3rd finger\n", + " definition of HP:0009328 (Pseudoepiphysis of the middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " A secondary ossification center in the middle phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.\n", + " definition of HP:0009328 (Pseudoepiphysis of the middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Pseudoepiphyses of middle phalanx of middle-finger\n", + " definition of HP:0009328 (Pseudoepiphysis of the middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " Anteroposteriorly shortened larynx\n", + " definition of HP:0005956 (Anteroposteriorly shortened larynx)\n", + " \n", + " \n", + " Abnormal shortening of the larynx in the anteroposterior (front to back) axis.\n", + " definition of HP:0005956 (Anteroposteriorly shortened larynx)\n", + " \n", + " \n", + " Hemoglobinuria\n", + " definition of HP:0003641 (Hemoglobinuria)\n", + " \n", + " \n", + " The presence of free hemoglobin in the urine.\n", + " definition of HP:0003641 (Hemoglobinuria)\n", + " \n", + " \n", + " #Haemoglobin in urine #Hemoglobin in urine\n", + " definition of HP:0003641 (Hemoglobinuria)\n", + " \n", + " \n", + " Palmoplantar erythema\n", + " definition of HP:0025493 (Palmoplantar erythema)\n", + " \n", + " \n", + " Redness of the skin of the palm of the hand and the sole of the foot caused by hyperemia of the capillaries in the lower layers of the skin.\n", + " definition of HP:0025493 (Palmoplantar erythema)\n", + " \n", + " \n", + " Sclerotic foci within carpal bones\n", + " definition of HP:0004240 (Sclerotic foci within carpal bones)\n", + " \n", + " \n", + " Enuresis diurna\n", + " definition of HP:0010678 (Enuresis diurna)\n", + " \n", + " \n", + " Enuresis occurring during waking hours of the day.\n", + " definition of HP:0010678 (Enuresis diurna)\n", + " \n", + " \n", + " Elevated tissue alpha-N-acetylglucosaminidase activity\n", + " definition of HP:6000971 (Elevated tissue alpha-N-acetylglucosaminidase activity)\n", + " \n", + " \n", + " Concentration or activity of alpha-N-acetylglucosaminidase (EC 3.2.1.50) above the upper limit of normal. This enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts. It is also known as alpha-acetylglucosaminidase, N-acetyl-alpha-D-glucosaminidase, N-acetyl-alpha-glucosaminidase, and alpha-D-2-acetamido-2-deoxyglucosidase.\n", + " definition of HP:6000971 (Elevated tissue alpha-N-acetylglucosaminidase activity)\n", + " \n", + " \n", + " Thoracic kyphoscoliosis\n", + " definition of HP:0005659 (Thoracic kyphoscoliosis)\n", + " \n", + " \n", + " Patchy sclerosis of the proximal phalanx of the 2nd toe\n", + " definition of HP:0010400 (Patchy sclerosis of the proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Uneven increase in bone density in the innermost bone of the 2nd toe\n", + " definition of HP:0010400 (Patchy sclerosis of the proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Multiple exostoses\n", + " definition of HP:0002762 (Multiple exostoses)\n", + " \n", + " \n", + " Presence of more than one exostosis. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.\n", + " definition of HP:0002762 (Multiple exostoses)\n", + " \n", + " \n", + " Enlarged gastric folds\n", + " definition of HP:6000249 (Enlarged gastric folds)\n", + " \n", + " \n", + " Giant gastric folds are recognized at endoscopy as an increase in the size of the gastric rugae and a lack of flattening.\n", + " definition of HP:6000249 (Enlarged gastric folds)\n", + " \n", + " \n", + " #Giant gastric folds\n", + " definition of HP:6000249 (Enlarged gastric folds)\n", + " \n", + " \n", + " Global developmental delay\n", + " definition of HP:0001263 (Global developmental delay)\n", + " \n", + " \n", + " A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.\n", + " definition of HP:0001263 (Global developmental delay)\n", + " \n", + " \n", + " #Delayed cognitive development #Delayed development #Delayed developmental milestones #Delayed intellectual development #Delayed milestones #Delayed psychomotor development #Developmental delay #Developmental delay in early childhood #Developmental delay, global #Developmental retardation #GDD #Lack of psychomotor development #Motor and developmental delay #Motormental retardation #Psychomotor delay #Psychomotor development deficiency #Psychomotor development failure #Psychomotor developmental delay #Retarded development #Retarded mental development #Retarded psychomotor development\n", + " definition of HP:0001263 (Global developmental delay)\n", + " \n", + " \n", + " Decreased miniature endplate potentials\n", + " definition of HP:0003402 (Decreased miniature endplate potentials)\n", + " \n", + " \n", + " An abnormal reduction in the amplitude of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction.\n", + " definition of HP:0003402 (Decreased miniature endplate potentials)\n", + " \n", + " \n", + " #Decreased MEPP #Small miniature endplate currents #Small miniature endplate potentials\n", + " definition of HP:0003402 (Decreased miniature endplate potentials)\n", + " \n", + " \n", + " Delayed eruption of permanent teeth\n", + " definition of HP:0000696 (Delayed eruption of permanent teeth)\n", + " \n", + " \n", + " Delayed tooth eruption affecting the secondary dentition.\n", + " definition of HP:0000696 (Delayed eruption of permanent teeth)\n", + " \n", + " \n", + " #Delayed eruption of adult teeth #Delayed eruption of permanent teeth #Delayed eruption of secondary dentition #Delayed eruption of secondary teeth #Delayed permanent dentition\n", + " definition of HP:0000696 (Delayed eruption of permanent teeth)\n", + " \n", + " \n", + " Occupational exposure to raw nonsynthetic textiles\n", + " definition of HP:6000449 (Occupational exposure to raw nonsynthetic textiles)\n", + " \n", + " \n", + " A history of exposure by inhalation of airborne particles generated during the processing of raw, nonsynthetic textiles, particularly cotton. Classically, exposure to cotton dust during the spinning and manufacturing process causes byssinosis. However, exposure to jute, flax, and hemp fibers has also been implicated in its development.\n", + " definition of HP:6000449 (Occupational exposure to raw nonsynthetic textiles)\n", + " \n", + " \n", + " Abnormal hand epiphysis morphology\n", + " definition of HP:0005924 (Abnormal hand epiphysis morphology)\n", + " \n", + " \n", + " Any abnormality of the epiphyses of the phalanges or metacarpal bones.\n", + " definition of HP:0005924 (Abnormal hand epiphysis morphology)\n", + " \n", + " \n", + " #Abnormality of the end part of the hand bone #Abnormality of the end part of the hand bones #Abnormality of the epiphyses of the fingers #Abnormality of the epiphyses of the hand #Abnormality of the epiphyses of the phalanges of the hand\n", + " definition of HP:0005924 (Abnormal hand epiphysis morphology)\n", + " \n", + " \n", + " Rib segmentation abnormalities\n", + " definition of HP:0006655 (Rib segmentation abnormalities)\n", + " \n", + " \n", + " Shortening of all middle phalanges of the toes\n", + " definition of HP:0006239 (Shortening of all middle phalanges of the toes)\n", + " \n", + " \n", + " Abnormal shortening of all middle phalanges of toes.\n", + " definition of HP:0006239 (Shortening of all middle phalanges of the toes)\n", + " \n", + " \n", + " #Brachymesophalangy of feet #Shortening of all the middle bones of the toes\n", + " definition of HP:0006239 (Shortening of all middle phalanges of the toes)\n", + " \n", + " \n", + " Abnormal intrarenal vein morphology\n", + " definition of HP:0033852 (Abnormal intrarenal vein morphology)\n", + " \n", + " \n", + " Abnormal structure of a vein located inside the kidney parenchyma.\n", + " definition of HP:0033852 (Abnormal intrarenal vein morphology)\n", + " \n", + " \n", + " Abnormal joint physiology\n", + " definition of HP:0034430 (Abnormal joint physiology)\n", + " \n", + " \n", + " Abnormality of the sphenoid sinus\n", + " definition of HP:0430022 (Abnormality of the sphenoid sinus)\n", + " \n", + " \n", + " An abnormality of the sphenoid sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The sphenoid sinus is located within the sphenoid bone.\n", + " definition of HP:0430022 (Abnormality of the sphenoid sinus)\n", + " \n", + " \n", + " #Abnormality of the sphenoidal sinus\n", + " definition of HP:0430022 (Abnormality of the sphenoid sinus)\n", + " \n", + " \n", + " CD38 expression\n", + " definition of HP:0430097 (CD38 expression)\n", + " \n", + " \n", + " Detection of the presence of CD38 on the cell(s) of interest with the use of anti-CD38 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry).\n", + " definition of HP:0430097 (CD38 expression)\n", + " \n", + " \n", + " Elevated urinary 4-hydroxybutyric acid\n", + " definition of HP:0032528 (Elevated urinary 4-hydroxybutyric acid)\n", + " \n", + " \n", + " An increased amount of 4-hydroxybutyric acid in the urine.\n", + " definition of HP:0032528 (Elevated urinary 4-hydroxybutyric acid)\n", + " \n", + " \n", + " Beau's lines\n", + " definition of HP:0041093 (Beau's lines)\n", + " \n", + " \n", + " A nail dystrophy that is preseents as grooved lines that run from side to side on the fingernail or the toenail that may look like indentations or ridges on the nail plate. They are caused by temporary disruption in the growth of proximal nail matrix. Trauma is usually the initiating factor such as infections, severe medical illnesses, major surgery/anesthesia, medication side effects, and autoimmune disease.\n", + " definition of HP:0041093 (Beau's lines)\n", + " \n", + " \n", + " #Beau lines #Ladder nail #Ladder nail sign\n", + " definition of HP:0041093 (Beau's lines)\n", + " \n", + " \n", + " Shoulder dimple\n", + " definition of HP:0010782 (Shoulder dimple)\n", + " \n", + " \n", + " A subtype of skin dimples occurring in the shoulder region.\n", + " definition of HP:0010782 (Shoulder dimple)\n", + " \n", + " \n", + " #Acromial dimple #Bi-acromial dimples #Shoulder dimples\n", + " definition of HP:0010782 (Shoulder dimple)\n", + " \n", + " \n", + " Decreased serum testosterone concentration\n", + " definition of HP:0040171 (Decreased serum testosterone concentration)\n", + " \n", + " \n", + " #Decreased serum testosterone level #Decreased serum testosterone levels #Low serum testosterone level #Low serum testosterone levels\n", + " definition of HP:0040171 (Decreased serum testosterone concentration)\n", + " \n", + " \n", + " Claw hand deformity\n", + " definition of HP:0034337 (Claw hand deformity)\n", + " \n", + " \n", + " An abnormality of the hand characterized by metacarpophalangeal (MCP) hyperextension and proximal interphalangeal (PIP) and distal interphalangeal (DIP) flexion. The position of the affected hand is said to resemble a claw.\n", + " definition of HP:0034337 (Claw hand deformity)\n", + " \n", + " \n", + " Pseudoepiphysis of the distal phalanx of the hallux\n", + " definition of HP:0010145 (Pseudoepiphysis of the distal phalanx of the hallux)\n", + " \n", + " \n", + " Abnormality of the temporomandibular joint\n", + " definition of HP:0010754 (Abnormality of the temporomandibular joint)\n", + " \n", + " \n", + " An anomaly of the temporomandibular joint.\n", + " definition of HP:0010754 (Abnormality of the temporomandibular joint)\n", + " \n", + " \n", + " #Abnormality of the jaw joint #Anomaly of the temporomandibular joint #Deformity of the jaw joint #Malformation of jaw joint\n", + " definition of HP:0010754 (Abnormality of the temporomandibular joint)\n", + " \n", + " \n", + " Absence of bactericidal oxidative respiratory burst in phagocytes\n", + " definition of HP:0002723 (Absence of bactericidal oxidative respiratory burst in phagocytes)\n", + " \n", + " \n", + " An absence of the phase of elevated metabolic activity, during which oxygen consumption increases, that occurs in neutrophils, monocytes, and macrophages shortly after phagocytosing material. An enhanced uptake of oxygen leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, which play a part in microbiocidal activity.\n", + " definition of HP:0002723 (Absence of bactericidal oxidative respiratory burst in phagocytes)\n", + " \n", + " \n", + " Mild intrauterine growth retardation\n", + " definition of HP:0008883 (Mild intrauterine growth retardation)\n", + " \n", + " \n", + " Intrauterine growth retardation that is at least 2 standard deviations (SD) below average, but not as low as 3 SD, corrected for sex and gestational age.\n", + " definition of HP:0008883 (Mild intrauterine growth retardation)\n", + " \n", + " \n", + " #Mild prenatal growth deficiency\n", + " definition of HP:0008883 (Mild intrauterine growth retardation)\n", + " \n", + " \n", + " Tracheal duplication cyst\n", + " definition of HP:0020143 (Tracheal duplication cyst)\n", + " \n", + " \n", + " A cyst in the trachea, whose wall is made up by tissue similar to the bronchial tree, including cartilage and smooth muscle, and is lined by secretory respiratory epithelium composed of cuboid or columnar ciliated epithelium.\n", + " definition of HP:0020143 (Tracheal duplication cyst)\n", + " \n", + " \n", + " Fractured left clavicle\n", + " definition of HP:0041116 (Fractured left clavicle)\n", + " \n", + " \n", + " A partial or complete breakage of the left clavicle.\n", + " definition of HP:0041116 (Fractured left clavicle)\n", + " \n", + " \n", + " #bone left clavicle\n", + " definition of HP:0041116 (Fractured left clavicle)\n", + " \n", + " \n", + " 1-3 toe syndactyly\n", + " definition of HP:0001459 (1-3 toe syndactyly)\n", + " \n", + " \n", + " Syndactyly with fusion of toes one to three.\n", + " definition of HP:0001459 (1-3 toe syndactyly)\n", + " \n", + " \n", + " #Webbed 1st-3rd toes\n", + " definition of HP:0001459 (1-3 toe syndactyly)\n", + " \n", + " \n", + " Intracranial cystic lesion\n", + " definition of HP:0010576 (Intracranial cystic lesion)\n", + " \n", + " \n", + " A cystic lesion originating within the brain.\n", + " definition of HP:0010576 (Intracranial cystic lesion)\n", + " \n", + " \n", + " #Cerebral cystic malformation\n", + " definition of HP:0010576 (Intracranial cystic lesion)\n", + " \n", + " \n", + " Reduced intraabdominal adipose tissue\n", + " definition of HP:0025128 (Reduced intraabdominal adipose tissue)\n", + " \n", + " \n", + " An abnormally reduced amount of adipose tissue in the abdominal cavity.\n", + " definition of HP:0025128 (Reduced intraabdominal adipose tissue)\n", + " \n", + " \n", + " Anti-Ma2 antibody positivity\n", + " definition of HP:5000022 (Anti-Ma2 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ma2.\n", + " definition of HP:5000022 (Anti-Ma2 antibody positivity)\n", + " \n", + " \n", + " #Anti-Ta antibody\n", + " definition of HP:5000022 (Anti-Ma2 antibody positivity)\n", + " \n", + " \n", + " Fractured scapula\n", + " definition of HP:0041244 (Fractured scapula)\n", + " \n", + " \n", + " A partial or complete breakage of the scapula.\n", + " definition of HP:0041244 (Fractured scapula)\n", + " \n", + " \n", + " #bone scapula\n", + " definition of HP:0041244 (Fractured scapula)\n", + " \n", + " \n", + " Increased DLCO\n", + " definition of HP:0045050 (Increased DLCO)\n", + " \n", + " \n", + " Increased ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test.\n", + " definition of HP:0045050 (Increased DLCO)\n", + " \n", + " \n", + " #Increased diffusing capacity\n", + " definition of HP:0045050 (Increased DLCO)\n", + " \n", + " \n", + " Metaphyseal chevron deformity\n", + " definition of HP:6000870 (Metaphyseal chevron deformity)\n", + " \n", + " \n", + " The chevron sign refers to an inverted V-shape metaphyses. It is most commonly seen in the distal femur and tends to disappear with age.\n", + " definition of HP:6000870 (Metaphyseal chevron deformity)\n", + " \n", + " \n", + " Abnormal blood inorganic cation concentration\n", + " definition of HP:0010927 (Abnormal blood inorganic cation concentration)\n", + " \n", + " \n", + " An abnormality of divalent inorganic cation homeostasis.\n", + " definition of HP:0010927 (Abnormal blood inorganic cation concentration)\n", + " \n", + " \n", + " #Abnormality of divalent inorganic cation homeostasis\n", + " definition of HP:0010927 (Abnormal blood inorganic cation concentration)\n", + " \n", + " \n", + " Wide mouth\n", + " definition of HP:0000154 (Wide mouth)\n", + " \n", + " \n", + " Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).\n", + " definition of HP:0000154 (Wide mouth)\n", + " \n", + " \n", + " #Broad mouth #Large mouth #Large oral aperture #Macrostomia #Wide mouth\n", + " definition of HP:0000154 (Wide mouth)\n", + " \n", + " \n", + " Arcuate vein lumen organized thrombi\n", + " definition of HP:0033878 (Arcuate vein lumen organized thrombi)\n", + " \n", + " \n", + " Thrombi containing fibrous tissue and capillary-like vascular channels located within the lumen of the arcuate veins of the kidney.\n", + " definition of HP:0033878 (Arcuate vein lumen organized thrombi)\n", + " \n", + " \n", + " #Organised thrombi within arcuate vein lumen #Organized thrombi within arcuate vein lumen\n", + " definition of HP:0033878 (Arcuate vein lumen organized thrombi)\n", + " \n", + " \n", + " Hip osteoarthritis\n", + " definition of HP:0008843 (Hip osteoarthritis)\n", + " \n", + " \n", + " #Osteoarthritis of hip\n", + " definition of HP:0008843 (Hip osteoarthritis)\n", + " \n", + " \n", + " Absent external genitalia\n", + " definition of HP:0000042 (Absent external genitalia)\n", + " \n", + " \n", + " Lack of external genitalia in a male or female individual.\n", + " definition of HP:0000042 (Absent external genitalia)\n", + " \n", + " \n", + " #Absent external genitalia\n", + " definition of HP:0000042 (Absent external genitalia)\n", + " \n", + " \n", + " Commissural lip pit\n", + " definition of HP:0002710 (Commissural lip pit)\n", + " \n", + " \n", + " A depression located at an oral commissure.\n", + " definition of HP:0002710 (Commissural lip pit)\n", + " \n", + " \n", + " #Commissural labial pits #Commissural pit #Lip pits at corners of the mouth #Pits at the corners of the lips\n", + " definition of HP:0002710 (Commissural lip pit)\n", + " \n", + " \n", + " Distal radial epiphyseal osteolysis\n", + " definition of HP:0006449 (Distal radial epiphyseal osteolysis)\n", + " \n", + " \n", + " Chronic villitis\n", + " definition of HP:0033552 (Chronic villitis)\n", + " \n", + " \n", + " Villitis of unknown etiology (synonymous with villitis of unknown etiology) is a histologic diagnosis and, although it may have a variable distribution, evidence indicates that 3 parenchymal blocks will identify 62% of villitis, reaching an asymptote of 6 and 7 blocks identifying 85% of villitis. Villitis of unknown etiology by definition excludes those cases where an etiology is identified, such as viral or acute infections, and thus is preferred to the term nonspecific chronic villitis. It is usually lymphohistiocytic: although the presence of rare plasma cells does not exclude the diagnosis, thorough evaluation for an infectious etiology, such as cytomegalovirus, is required in a predominantly plasma cell villitis.\n", + " definition of HP:0033552 (Chronic villitis)\n", + " \n", + " \n", + " #Chronic villitis (non-infectious) #Nonspecific chronic villitis #Villitis of unknown aetiology #Villitis of unknown etiology\n", + " definition of HP:0033552 (Chronic villitis)\n", + " \n", + " \n", + " Digestive system neoplasm\n", + " definition of HP:0034930 (Digestive system neoplasm)\n", + " \n", + " \n", + " A tumor (abnormal growth of tissue) of the digestive system.\n", + " definition of HP:0034930 (Digestive system neoplasm)\n", + " \n", + " \n", + " Fractured distal phalanx of manual digit 2\n", + " definition of HP:0041176 (Fractured distal phalanx of manual digit 2)\n", + " \n", + " \n", + " A partial or complete breakage of the distal phalanx of manual digit 2.\n", + " definition of HP:0041176 (Fractured distal phalanx of manual digit 2)\n", + " \n", + " \n", + " #bone distal phalanx of manual digit 2\n", + " definition of HP:0041176 (Fractured distal phalanx of manual digit 2)\n", + " \n", + " \n", + " Abnormality of the distal phalanx of the 5th finger\n", + " definition of HP:0004225 (Abnormality of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " Abnormality of the distal phalanx of the 5th (little) finger.\n", + " definition of HP:0004225 (Abnormality of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " #Abnormality of the distal phalanx of the little finger #Abnormality of the outermost little finger bone #Abnormality of the outermost pinkie finger bone #Abnormality of the outermost pinky finger bone #Abnormality of the terminal phalanx of the little finger\n", + " definition of HP:0004225 (Abnormality of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " Metaphyseal undermodelling\n", + " definition of HP:6001098 (Metaphyseal undermodelling)\n", + " \n", + " \n", + " Lack of the normal diaphyseal constriction (thinning of long bones toward the midshaft area) giving the submetaphyseal areas an abnormally wide appearance.\n", + " definition of HP:6001098 (Metaphyseal undermodelling)\n", + " \n", + " \n", + " #Metaphyseal modeling defect #Undermodelled metaphyses\n", + " definition of HP:6001098 (Metaphyseal undermodelling)\n", + " \n", + " \n", + " Hyperglycinuria\n", + " definition of HP:0003108 (Hyperglycinuria)\n", + " \n", + " \n", + " An increased concentration of glycine in the urine.\n", + " definition of HP:0003108 (Hyperglycinuria)\n", + " \n", + " \n", + " #Glycinuria #High urine glycine levels\n", + " definition of HP:0003108 (Hyperglycinuria)\n", + " \n", + " \n", + " Elevated urine phenylpropionylglycine level\n", + " definition of HP:0034651 (Elevated urine phenylpropionylglycine level)\n", + " \n", + " \n", + " Level of phenylpropionylglycine in urine above upper limit of normal.\n", + " definition of HP:0034651 (Elevated urine phenylpropionylglycine level)\n", + " \n", + " \n", + " #Phenylpropionylglycine present in urine\n", + " definition of HP:0034651 (Elevated urine phenylpropionylglycine level)\n", + " \n", + " \n", + " Positive hair barbiturate test\n", + " definition of HP:0410201 (Positive hair barbiturate test)\n", + " \n", + " \n", + " Detection of barbiturate metabolites such as phenobarbital in the hair.\n", + " definition of HP:0410201 (Positive hair barbiturate test)\n", + " \n", + " \n", + " Progressive fusion 2nd-5th pip joints\n", + " definition of HP:0006147 (Progressive fusion 2nd-5th pip joints)\n", + " \n", + " \n", + " Short humerus\n", + " definition of HP:0005792 (Short humerus)\n", + " \n", + " \n", + " Underdevelopment of the humerus.\n", + " definition of HP:0005792 (Short humerus)\n", + " \n", + " \n", + " #Humeral hypoplasia #Humeral shortening #Hypoplastic humerus #Short humeri #Short humerus #Short long bone of upper arm #Short upper arms\n", + " definition of HP:0005792 (Short humerus)\n", + " \n", + " \n", + " Ivory epiphysis of the 1st metatarsal\n", + " definition of HP:0010155 (Ivory epiphysis of the 1st metatarsal)\n", + " \n", + " \n", + " The epiphysis of the 1st metatarsal appears hard and dense like ivory. An ivory epiphysis has a uniformly dense appearance on radiographs.\n", + " definition of HP:0010155 (Ivory epiphysis of the 1st metatarsal)\n", + " \n", + " \n", + " #Increased bone density of end part of the 1st long bone of foot\n", + " definition of HP:0010155 (Ivory epiphysis of the 1st metatarsal)\n", + " \n", + " \n", + " Triggered by allopurinol\n", + " definition of HP:4000102 (Triggered by allopurinol)\n", + " \n", + " \n", + " Applies to a sign or symptom that is provoked or brought about by exposure to allopurinol.\n", + " definition of HP:4000102 (Triggered by allopurinol)\n", + " \n", + " \n", + " #Allopurinol exposure\n", + " definition of HP:4000102 (Triggered by allopurinol)\n", + " \n", + " \n", + " Multiple epiphyseal dysplasia\n", + " definition of HP:0002654 (Multiple epiphyseal dysplasia)\n", + " \n", + " \n", + " Scrotal hyperpigmentation\n", + " definition of HP:0012855 (Scrotal hyperpigmentation)\n", + " \n", + " \n", + " Increased pigmentation (skin color) of the scrotum.\n", + " definition of HP:0012855 (Scrotal hyperpigmentation)\n", + " \n", + " \n", + " #Hyperpigmentation of the scrotum #Hyperpigmented scrotum #Increased pigmentation in scrotum\n", + " definition of HP:0012855 (Scrotal hyperpigmentation)\n", + " \n", + " \n", + " Decreased platelet glycoprotein Ib-IX-V\n", + " definition of HP:0011879 (Decreased platelet glycoprotein Ib-IX-V)\n", + " \n", + " \n", + " Decreased cell membrane concentration of the glycoprotein complex Ib-IX-V.\n", + " definition of HP:0011879 (Decreased platelet glycoprotein Ib-IX-V)\n", + " \n", + " \n", + " Small abnormally formed scapulae\n", + " definition of HP:0006584 (Small abnormally formed scapulae)\n", + " \n", + " \n", + " #Small abnormally formed scapula #Small abnormally formed shoulder blade\n", + " definition of HP:0006584 (Small abnormally formed scapulae)\n", + " \n", + " \n", + " Acantholysis\n", + " definition of HP:0100792 (Acantholysis)\n", + " \n", + " \n", + " The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes.\n", + " definition of HP:0100792 (Acantholysis)\n", + " \n", + " \n", + " Paramedian facial cleft\n", + " definition of HP:0031571 (Paramedian facial cleft)\n", + " \n", + " \n", + " A type of facial cleft located near to but not directly on the midline of the face.\n", + " definition of HP:0031571 (Paramedian facial cleft)\n", + " \n", + " \n", + " Exudative pleural effusion\n", + " definition of HP:0011921 (Exudative pleural effusion)\n", + " \n", + " \n", + " A type of pleural effusion with a exudate (extravascular fluid that has exuded out of a tissue or its capillaries due to injury or inflammation). Pleural effusions can be classified as transudates or exudates based on Light's criteria, which classify an effusion as exudate if one or more of the following are present: (1) the ratio of pleural fluid protein to serum protein is greater than 0.5, (2) the ratio of pleural fluid lactate dehydrogenase (LDH) to serum LDH is greater than 0.6, or (3) the pleural fluid LDH level is greater than two thirds of the upper limit of normal for serum LDH.\n", + " definition of HP:0011921 (Exudative pleural effusion)\n", + " \n", + " \n", + " CSF pleocytosis\n", + " definition of HP:0012229 (CSF pleocytosis)\n", + " \n", + " \n", + " An increased white blood cell count in the cerebrospinal fluid.\n", + " definition of HP:0012229 (CSF pleocytosis)\n", + " \n", + " \n", + " #Cerebrospinal fluid pleocytosis #Increased leukocyte count in CSF\n", + " definition of HP:0012229 (CSF pleocytosis)\n", + " \n", + " \n", + " Joint contracture of the 5th finger\n", + " definition of HP:0009183 (Joint contracture of the 5th finger)\n", + " \n", + " \n", + " Chronic loss of joint motion in the 5th finger due to structural changes in non-bony tissue. The term camptodactyly of the 5th finger is used if the distal and/or proximal interphalangeal joints are affected.\n", + " definition of HP:0009183 (Joint contracture of the 5th finger)\n", + " \n", + " \n", + " Abnormal inferior vena cava morphology\n", + " definition of HP:0025576 (Abnormal inferior vena cava morphology)\n", + " \n", + " \n", + " Any structural anomaly of the principal vein draining blood from the lower portion of the body.\n", + " definition of HP:0025576 (Abnormal inferior vena cava morphology)\n", + " \n", + " \n", + " Asymmetric crying face\n", + " definition of HP:0011333 (Asymmetric crying face)\n", + " \n", + " \n", + " Asymmetry observed in the face of a neonate or infant whose face appears symmetric at rest and asymmetric during crying as the mouth is pulled downward on one side while not moving on the other side.\n", + " definition of HP:0011333 (Asymmetric crying face)\n", + " \n", + " \n", + " #Asymmetric crying face #Partial unilateral facial paresis\n", + " definition of HP:0011333 (Asymmetric crying face)\n", + " \n", + " \n", + " Increased antral follicle count\n", + " definition of HP:0033086 (Increased antral follicle count)\n", + " \n", + " \n", + " A count of antral follicles that is higher than normal for age.\n", + " definition of HP:0033086 (Increased antral follicle count)\n", + " \n", + " \n", + " Hydrosalpinx\n", + " definition of HP:6000146 (Hydrosalpinx)\n", + " \n", + " \n", + " Hydrosalpinx is a distension or dilatation of the fallopian tube in the presence of a distal tubal occlusion.\n", + " definition of HP:6000146 (Hydrosalpinx)\n", + " \n", + " \n", + " Calcification of falx cerebri\n", + " definition of HP:0005462 (Calcification of falx cerebri)\n", + " \n", + " \n", + " The presence of calcium deposition in the falx cerebri.\n", + " definition of HP:0005462 (Calcification of falx cerebri)\n", + " \n", + " \n", + " Aplasia of the middle phalanx of the hand\n", + " definition of HP:0010239 (Aplasia of the middle phalanx of the hand)\n", + " \n", + " \n", + " Absence of one or more middle phalanx of a finger.\n", + " definition of HP:0010239 (Aplasia of the middle phalanx of the hand)\n", + " \n", + " \n", + " #Absent middle bones of hand #Absent middle phalanges #Missing middle phalanges\n", + " definition of HP:0010239 (Aplasia of the middle phalanx of the hand)\n", + " \n", + " \n", + " Corticotropin-releasing hormone receptor defect\n", + " definition of HP:0011738 (Corticotropin-releasing hormone receptor defect)\n", + " \n", + " \n", + " Adrenal insufficiency secondary to a defect in the corticotropin-releasing hormone receptor.\n", + " definition of HP:0011738 (Corticotropin-releasing hormone receptor defect)\n", + " \n", + " \n", + " #CRHR defect\n", + " definition of HP:0011738 (Corticotropin-releasing hormone receptor defect)\n", + " \n", + " \n", + " First dorsal interossei muscle weakness\n", + " definition of HP:0003392 (First dorsal interossei muscle weakness)\n", + " \n", + " \n", + " Disseminated molluscum contagiosum\n", + " definition of HP:0032185 (Disseminated molluscum contagiosum)\n", + " \n", + " \n", + " The presence of molluscum contagiosum lesions across multiple areas of the body.\n", + " definition of HP:0032185 (Disseminated molluscum contagiosum)\n", + " \n", + " \n", + " Focal\n", + " definition of HP:0030650 (Focal)\n", + " \n", + " \n", + " Reduced CSF methionine concentration\n", + " definition of HP:0034740 (Reduced CSF methionine concentration)\n", + " \n", + " \n", + " Concentration of methionine in the cerebrospinal fluid below the lower limit of normal.\n", + " definition of HP:0034740 (Reduced CSF methionine concentration)\n", + " \n", + " \n", + " #Methionine low in CSF\n", + " definition of HP:0034740 (Reduced CSF methionine concentration)\n", + " \n", + " \n", + " Absent hallux epiphysis\n", + " definition of HP:0010113 (Absent hallux epiphysis)\n", + " \n", + " \n", + " Failure to form (agenesis) of one or more epiphyses of the big toe.\n", + " definition of HP:0010113 (Absent hallux epiphysis)\n", + " \n", + " \n", + " #Absent end part of big toe bone #Absent epiphyses of the hallux\n", + " definition of HP:0010113 (Absent hallux epiphysis)\n", + " \n", + " \n", + " Color vision test abnormality\n", + " definition of HP:0030584 (Color vision test abnormality)\n", + " \n", + " \n", + " #Colour vision test abnormality\n", + " definition of HP:0030584 (Color vision test abnormality)\n", + " \n", + " \n", + " Bathrocephaly\n", + " definition of HP:0034974 (Bathrocephaly)\n", + " \n", + " \n", + " A deformity of the posterior skull with bulging of the midportion of the occipital bone that is often associated with a benign variant of the mendosal suture.\n", + " definition of HP:0034974 (Bathrocephaly)\n", + " \n", + " \n", + " Positive urine opioid test\n", + " definition of HP:0500113 (Positive urine opioid test)\n", + " \n", + " \n", + " Detection of opioids or opioid metabolites in urine.\n", + " definition of HP:0500113 (Positive urine opioid test)\n", + " \n", + " \n", + " Abnormal pulmonary artery morphology\n", + " definition of HP:0030966 (Abnormal pulmonary artery morphology)\n", + " \n", + " \n", + " An abnormality of the structure of the pulmonary artery.\n", + " definition of HP:0030966 (Abnormal pulmonary artery morphology)\n", + " \n", + " \n", + " EMG: myotonic runs\n", + " definition of HP:0003730 (EMG: myotonic runs)\n", + " \n", + " \n", + " Spontaneous, repetitive electrical activity demonstrated by electromyography (EMG).\n", + " definition of HP:0003730 (EMG: myotonic runs)\n", + " \n", + " \n", + " Elevated circulating aspartylglucosamine concentration\n", + " definition of HP:6000282 (Elevated circulating aspartylglucosamine concentration)\n", + " \n", + " \n", + " Concentration of aspartylglucosamine in the blood circulation above the upper limit of normal.\n", + " definition of HP:6000282 (Elevated circulating aspartylglucosamine concentration)\n", + " \n", + " \n", + " #Aspartylglucosamine high in blood\n", + " definition of HP:6000282 (Elevated circulating aspartylglucosamine concentration)\n", + " \n", + " \n", + " Eruptive xanthomas\n", + " definition of HP:0001013 (Eruptive xanthomas)\n", + " \n", + " \n", + " Eruptive xanthomas are yellow-orange-to-red-brown papules that are often surrounded by an erythematous halo. They appear in crops on the buttocks, extensor surfaces of the extremities, and flexural creases. Acutely, variable amounts of pruritus and pain occur.\n", + " definition of HP:0001013 (Eruptive xanthomas)\n", + " \n", + " \n", + " Prolonged bleeding following procedure\n", + " definition of HP:0011890 (Prolonged bleeding following procedure)\n", + " \n", + " \n", + " Prolonged or protracted bleeding following an invasive procedure or intervention.\n", + " definition of HP:0011890 (Prolonged bleeding following procedure)\n", + " \n", + " \n", + " #Prolonged bleeding following procedure\n", + " definition of HP:0011890 (Prolonged bleeding following procedure)\n", + " \n", + " \n", + " Abnormal morphology of phalanx of the 2nd toe\n", + " definition of HP:0010324 (Abnormal morphology of phalanx of the 2nd toe)\n", + " \n", + " \n", + " An anomaly of a phalanx of second toe.\n", + " definition of HP:0010324 (Abnormal morphology of phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Abnormality of the 2nd toe bone\n", + " definition of HP:0010324 (Abnormal morphology of phalanx of the 2nd toe)\n", + " \n", + " \n", + " Abnormal red nucleus morphology\n", + " definition of HP:0033679 (Abnormal red nucleus morphology)\n", + " \n", + " \n", + " Any structural anomaly of the red nucleus, a part of the midbrain involved in control of movement.\n", + " definition of HP:0033679 (Abnormal red nucleus morphology)\n", + " \n", + " \n", + " Thick nasal septum\n", + " definition of HP:0009746 (Thick nasal septum)\n", + " \n", + " \n", + " Abnormally increased thickness of the nasal septum.\n", + " definition of HP:0009746 (Thick nasal septum)\n", + " \n", + " \n", + " #Broad nasal septum #Broad septum of nose #Thick nasal septum #Thick septum of nose #Wide nasal septum #Wide septum of nose\n", + " definition of HP:0009746 (Thick nasal septum)\n", + " \n", + " \n", + " Peripheral neuropathy\n", + " definition of HP:0009830 (Peripheral neuropathy)\n", + " \n", + " \n", + " Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.\n", + " definition of HP:0009830 (Peripheral neuropathy)\n", + " \n", + " \n", + " #Peripheral nerve damage #Peripheral neuritis\n", + " definition of HP:0009830 (Peripheral neuropathy)\n", + " \n", + " \n", + " Anti-mumps antibody positivity\n", + " definition of HP:6000903 (Anti-mumps antibody positivity)\n", + " \n", + " \n", + " The presence of antibodies in the blood circulation that react against a component of Mumps virus.\n", + " definition of HP:6000903 (Anti-mumps antibody positivity)\n", + " \n", + " \n", + " Eyelid myokymia\n", + " definition of HP:0031166 (Eyelid myokymia)\n", + " \n", + " \n", + " Involuntary, fine, continuous, undulating contractions of the eyelid.\n", + " definition of HP:0031166 (Eyelid myokymia)\n", + " \n", + " \n", + " #Myokymia orbicularis #Orbicularis myokymia\n", + " definition of HP:0031166 (Eyelid myokymia)\n", + " \n", + " \n", + " Meconium stained amniotic fluid\n", + " definition of HP:0012420 (Meconium stained amniotic fluid)\n", + " \n", + " \n", + " Amniotic fluid containing the earliest stools of a mammalian infant.\n", + " definition of HP:0012420 (Meconium stained amniotic fluid)\n", + " \n", + " \n", + " #Meconium staining of amniotic fluid #Meconium-stained amniotic fluid\n", + " definition of HP:0012420 (Meconium stained amniotic fluid)\n", + " \n", + " \n", + " Nummular eczema\n", + " definition of HP:0033120 (Nummular eczema)\n", + " \n", + " \n", + " A type of eczema characterized by pruritic coin-shaped patches on the skin. Nummular eczema most commonly occurs on the extremities, particularly the legs, but may occur anywhere on the trunk, hands, or feet\n", + " definition of HP:0033120 (Nummular eczema)\n", + " \n", + " \n", + " #Discoid eczema #Nummular dermatitis\n", + " definition of HP:0033120 (Nummular eczema)\n", + " \n", + " \n", + " Small epiphysis of the middle phalanx of the 2nd finger\n", + " definition of HP:0009521 (Small epiphysis of the middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Small end part of the innermost long bone of index finger\n", + " definition of HP:0009521 (Small epiphysis of the middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " Proximal\n", + " definition of HP:0012840 (Proximal)\n", + " \n", + " \n", + " Localized close to the central point of the body.\n", + " definition of HP:0012840 (Proximal)\n", + " \n", + " \n", + " Joint swelling\n", + " definition of HP:0001386 (Joint swelling)\n", + " \n", + " \n", + " #Joint swelling\n", + " definition of HP:0001386 (Joint swelling)\n", + " \n", + " \n", + " Bicarbonate-wasting renal tubular acidosis\n", + " definition of HP:0004910 (Bicarbonate-wasting renal tubular acidosis)\n", + " \n", + " \n", + " #HCO3-wasting renal tubular acidosis #Renal bicarbonate wasting\n", + " definition of HP:0004910 (Bicarbonate-wasting renal tubular acidosis)\n", + " \n", + " \n", + " Decreased erythrocyte nicotinamide adenine dinucleotide-cytochrome b5 reductase activity\n", + " definition of HP:6000133 (Decreased erythrocyte nicotinamide adenine dinucleotide-cytochrome b5 reductase activity)\n", + " \n", + " \n", + " The activity of nicotinamide adenine dinucleotide (NADH)-cytochrome b5 reductase in erythrocytes (red blood cells) is below the lower limit of normal.\n", + " definition of HP:6000133 (Decreased erythrocyte nicotinamide adenine dinucleotide-cytochrome b5 reductase activity)\n", + " \n", + " \n", + " #NADH-cytochrome b5 reductase low\n", + " definition of HP:6000133 (Decreased erythrocyte nicotinamide adenine dinucleotide-cytochrome b5 reductase activity)\n", + " \n", + " \n", + " Hypoisoleucinemia\n", + " definition of HP:0500144 (Hypoisoleucinemia)\n", + " \n", + " \n", + " A decreased amount of isoleucine in the blood.\n", + " definition of HP:0500144 (Hypoisoleucinemia)\n", + " \n", + " \n", + " #Decreased blood isoleucine concentration #Low blood isoleucine levels\n", + " definition of HP:0500144 (Hypoisoleucinemia)\n", + " \n", + " \n", + " Addictive video game use\n", + " definition of HP:5200336 (Addictive video game use)\n", + " \n", + " \n", + " The inability to regulate persistent gaming behavior is characterized by a heightened prioritization of gaming activities over regular daily tasks and responsibilities.\n", + " definition of HP:5200336 (Addictive video game use)\n", + " \n", + " \n", + " #Excessive video game playing #Video game addiction\n", + " definition of HP:5200336 (Addictive video game use)\n", + " \n", + " \n", + " Low back pain\n", + " definition of HP:0003419 (Low back pain)\n", + " \n", + " \n", + " An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back.\n", + " definition of HP:0003419 (Low back pain)\n", + " \n", + " \n", + " #Lower back pain #Lumbago\n", + " definition of HP:0003419 (Low back pain)\n", + " \n", + " \n", + " Small epiphysis of the proximal phalanx of the hallux\n", + " definition of HP:0010135 (Small epiphysis of the proximal phalanx of the hallux)\n", + " \n", + " \n", + " #Small end part of the innermost bone of the big toe\n", + " definition of HP:0010135 (Small epiphysis of the proximal phalanx of the hallux)\n", + " \n", + " \n", + " Fixated interest with abnormal intensity\n", + " definition of HP:4000078 (Fixated interest with abnormal intensity)\n", + " \n", + " \n", + " An abnormally intense interest in a topic or object that is not atypical for the social context of the affected person.\n", + " definition of HP:4000078 (Fixated interest with abnormal intensity)\n", + " \n", + " \n", + " EEG with periodic complexes\n", + " definition of HP:0010856 (EEG with periodic complexes)\n", + " \n", + " \n", + " Periodically occurring generalized periodic complexes.\n", + " definition of HP:0010856 (EEG with periodic complexes)\n", + " \n", + " \n", + " #EEG: periodic complexes #Radermecker complexes\n", + " definition of HP:0010856 (EEG with periodic complexes)\n", + " \n", + " \n", + " Long nasal bridge\n", + " definition of HP:0033142 (Long nasal bridge)\n", + " \n", + " \n", + " Increased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose.\n", + " definition of HP:0033142 (Long nasal bridge)\n", + " \n", + " \n", + " Fused nails\n", + " definition of HP:0011312 (Fused nails)\n", + " \n", + " \n", + " A nail plate that has a longitudinal separation with partially separated nails, each with a separate lateral radius of curvature.\n", + " definition of HP:0011312 (Fused nails)\n", + " \n", + " \n", + " #Fused nails\n", + " definition of HP:0011312 (Fused nails)\n", + " \n", + " \n", + " Fibular metaphyseal irregularity\n", + " definition of HP:0030293 (Fibular metaphyseal irregularity)\n", + " \n", + " \n", + " Irregularity of the normally smooth surface of a metaphysis of a fibula.\n", + " definition of HP:0030293 (Fibular metaphyseal irregularity)\n", + " \n", + " \n", + " #Irregularity of wide portion of calf bone\n", + " definition of HP:0030293 (Fibular metaphyseal irregularity)\n", + " \n", + " \n", + " Best corrected visual acuity 0.3 LogMAR\n", + " definition of HP:0030556 (Best corrected visual acuity 0.3 LogMAR)\n", + " \n", + " \n", + " Neoplasm of the adrenal medulla\n", + " definition of HP:0100642 (Neoplasm of the adrenal medulla)\n", + " \n", + " \n", + " The presence of a neoplasm of the adrenal medulla.\n", + " definition of HP:0100642 (Neoplasm of the adrenal medulla)\n", + " \n", + " \n", + " #Medullar adrenal neoplasia\n", + " definition of HP:0100642 (Neoplasm of the adrenal medulla)\n", + " \n", + " \n", + " Elevated urinary N-methylhistamine level\n", + " definition of HP:6000533 (Elevated urinary N-methylhistamine level)\n", + " \n", + " \n", + " The amount of N-methylhistamine in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000533 (Elevated urinary N-methylhistamine level)\n", + " \n", + " \n", + " Decreased circulating iron concentration\n", + " definition of HP:0040303 (Decreased circulating iron concentration)\n", + " \n", + " \n", + " The concentration of iron in the blood circulation is below the lower limit of normal.\n", + " definition of HP:0040303 (Decreased circulating iron concentration)\n", + " \n", + " \n", + " #Decreased serum iron #Hypoferremia #Low serum iron\n", + " definition of HP:0040303 (Decreased circulating iron concentration)\n", + " \n", + " \n", + " Unilateral narrow palpebral fissure\n", + " definition of HP:0007946 (Unilateral narrow palpebral fissure)\n", + " \n", + " \n", + " A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures on one side only.\n", + " definition of HP:0007946 (Unilateral narrow palpebral fissure)\n", + " \n", + " \n", + " #Narrow palpebral fissure, unilateral\n", + " definition of HP:0007946 (Unilateral narrow palpebral fissure)\n", + " \n", + " \n", + " Impulsivity\n", + " definition of HP:0100710 (Impulsivity)\n", + " \n", + " \n", + " Acting on the spur of the moment or on a momentary basis without consideration of outcomes; having difficulty establishing or following plans; experiencing a sense of urgency and engaging in behavior that is uninhibited, cannot be inhibited, and is uncontrolled. The possibility of repression is inconceivable.\n", + " definition of HP:0100710 (Impulsivity)\n", + " \n", + " \n", + " #Impulsive #Impulsivity\n", + " definition of HP:0100710 (Impulsivity)\n", + " \n", + " \n", + " Positive CSF Borrelia burgdorferi nucleic acid test\n", + " definition of HP:6000548 (Positive CSF Borrelia burgdorferi nucleic acid test)\n", + " \n", + " \n", + " Detection of Borrelia burgdorferi nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction.\n", + " definition of HP:6000548 (Positive CSF Borrelia burgdorferi nucleic acid test)\n", + " \n", + " \n", + " Hyperplasia of the femoral trochanters\n", + " definition of HP:0002822 (Hyperplasia of the femoral trochanters)\n", + " \n", + " \n", + " #Hyperplastic femoral trochanters\n", + " definition of HP:0002822 (Hyperplasia of the femoral trochanters)\n", + " \n", + " \n", + " Pectoralis major hypoplasia\n", + " definition of HP:0008953 (Pectoralis major hypoplasia)\n", + " \n", + " \n", + " Underdevelopment of the pectoralis major.\n", + " definition of HP:0008953 (Pectoralis major hypoplasia)\n", + " \n", + " \n", + " #Pectoralis major muscle hypoplasia\n", + " definition of HP:0008953 (Pectoralis major hypoplasia)\n", + " \n", + " \n", + " Slowed horizontal saccades\n", + " definition of HP:0007885 (Slowed horizontal saccades)\n", + " \n", + " \n", + " An abnormally slow velocity of horizontal saccadic eye movements.\n", + " definition of HP:0007885 (Slowed horizontal saccades)\n", + " \n", + " \n", + " Snowflake vitreoretinal degeneration\n", + " definition of HP:0011533 (Snowflake vitreoretinal degeneration)\n", + " \n", + " \n", + " The appearance of yellow/white crystalline-like (hence the name) spots in the retina and thickening of the peripheral part of the vitreous.\n", + " definition of HP:0011533 (Snowflake vitreoretinal degeneration)\n", + " \n", + " \n", + " #Snowflake retinal degeneration\n", + " definition of HP:0011533 (Snowflake vitreoretinal degeneration)\n", + " \n", + " \n", + " Subretinal exudate\n", + " definition of HP:0011532 (Subretinal exudate)\n", + " \n", + " \n", + " A type of retinal exudate located in the subretinal space between the sensory retina and the retinal pigment epithelium.\n", + " definition of HP:0011532 (Subretinal exudate)\n", + " \n", + " \n", + " Decreased urine urobilinogen\n", + " definition of HP:0032473 (Decreased urine urobilinogen)\n", + " \n", + " \n", + " An abnormally reduced concentration of urobilinogen in the urine.\n", + " definition of HP:0032473 (Decreased urine urobilinogen)\n", + " \n", + " \n", + " Differential cyanosis\n", + " definition of HP:0034034 (Differential cyanosis)\n", + " \n", + " \n", + " Differential degree of bluish discoloration between the upper and lower extremities.\n", + " definition of HP:0034034 (Differential cyanosis)\n", + " \n", + " \n", + " Abnormal rete ridge morphology\n", + " definition of HP:0034767 (Abnormal rete ridge morphology)\n", + " \n", + " \n", + " Abnormal structure of the rete ridges (also known as rete pegs), which are downward projections of epithelium surrounding the connective tissue papillae in between the dermal papillae.\n", + " definition of HP:0034767 (Abnormal rete ridge morphology)\n", + " \n", + " \n", + " Increased anti-bacteria IgE antibody level\n", + " definition of HP:0410224 (Increased anti-bacteria IgE antibody level)\n", + " \n", + " \n", + " Increased level of IgE antibody against bacteria.\n", + " definition of HP:0410224 (Increased anti-bacteria IgE antibody level)\n", + " \n", + " \n", + " #Increased level of anti-bacteria IgE antibody\n", + " definition of HP:0410224 (Increased anti-bacteria IgE antibody level)\n", + " \n", + " \n", + " Hypotension\n", + " definition of HP:0002615 (Hypotension)\n", + " \n", + " \n", + " Low Blood Pressure, vascular hypotension.\n", + " definition of HP:0002615 (Hypotension)\n", + " \n", + " \n", + " #Arterial hypotension #Low blood pressure\n", + " definition of HP:0002615 (Hypotension)\n", + " \n", + " \n", + " Medial rotation of the medial malleolus\n", + " definition of HP:0008132 (Medial rotation of the medial malleolus)\n", + " \n", + " \n", + " Neck pterygia\n", + " definition of HP:0009759 (Neck pterygia)\n", + " \n", + " \n", + " Pterygia affecting the neck.\n", + " definition of HP:0009759 (Neck pterygia)\n", + " \n", + " \n", + " #Neck pterygium\n", + " definition of HP:0009759 (Neck pterygia)\n", + " \n", + " \n", + " Hordeolum\n", + " definition of HP:0010606 (Hordeolum)\n", + " \n", + " \n", + " An acute purulent infection of the sebaceous glands of Zeis at the base of the eyelashes, of the apocrine sweat glands of Moll or the meibomian sebacious glands often caused by staphylococcus infections. Hordeola can either occur as Hordeola externa affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll or as Hordeola interna affecting the meibomian sebacious glands. In contrast to chalazia, hordeola are extremely painful and can cause extreme local swelling.\n", + " definition of HP:0010606 (Hordeolum)\n", + " \n", + " \n", + " #Stye of eyelid\n", + " definition of HP:0010606 (Hordeolum)\n", + " \n", + " \n", + " Hot cross bun sign\n", + " definition of HP:0041056 (Hot cross bun sign)\n", + " \n", + " \n", + " A cruciform-shaped hyperintensity within the pons found on T2-weighted magnetic resonance imaging (MRI).\n", + " definition of HP:0041056 (Hot cross bun sign)\n", + " \n", + " \n", + " Agenesis of pineal gland\n", + " definition of HP:0012687 (Agenesis of pineal gland)\n", + " \n", + " \n", + " Failure to develop of the pineal gland, defined clinically as the absence of the pineal gland with no indication of the pineal gland even having been present.\n", + " definition of HP:0012687 (Agenesis of pineal gland)\n", + " \n", + " \n", + " Euthyroid hyperthyroxinemia\n", + " definition of HP:0008247 (Euthyroid hyperthyroxinemia)\n", + " \n", + " \n", + " Increased levels of thyroxine without evidence of clinical thyroid disease.\n", + " definition of HP:0008247 (Euthyroid hyperthyroxinemia)\n", + " \n", + " \n", + " #Asymptomatic hyperthyroxinemia\n", + " definition of HP:0008247 (Euthyroid hyperthyroxinemia)\n", + " \n", + " \n", + " Exaggerated facial expression\n", + " definition of HP:5200014 (Exaggerated facial expression)\n", + " \n", + " \n", + " A tendency to make facial expressions that are exaggerated and a failure to make subtle facial expressions in a social context when a subtle expression is more appropriate.\n", + " definition of HP:5200014 (Exaggerated facial expression)\n", + " \n", + " \n", + " Abnormal anterior semicircular canal morphology\n", + " definition of HP:0040108 (Abnormal anterior semicircular canal morphology)\n", + " \n", + " \n", + " #Morphological abnormality of the anterior semicircular canal\n", + " definition of HP:0040108 (Abnormal anterior semicircular canal morphology)\n", + " \n", + " \n", + " Small epiphysis of the proximal phalanx of the 2nd finger\n", + " definition of HP:0009532 (Small epiphysis of the proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Small end part of proximal long bond of index finger\n", + " definition of HP:0009532 (Small epiphysis of the proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Triggered by overhead motions\n", + " definition of HP:6000683 (Triggered by overhead motions)\n", + " \n", + " \n", + " Applies to a sign or symptom that is induced by repeatedly performing overhead motions, such as painting a ceiling or working on objects located above the head, or some types of athletics.\n", + " definition of HP:6000683 (Triggered by overhead motions)\n", + " \n", + " \n", + " #Triggered by overhead activity\n", + " definition of HP:6000683 (Triggered by overhead motions)\n", + " \n", + " \n", + " Medullary nephrocalcinosis\n", + " definition of HP:0012408 (Medullary nephrocalcinosis)\n", + " \n", + " \n", + " The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney).\n", + " definition of HP:0012408 (Medullary nephrocalcinosis)\n", + " \n", + " \n", + " Diaphragmatic eventration\n", + " definition of HP:0009110 (Diaphragmatic eventration)\n", + " \n", + " \n", + " A congenital failure of muscular development of part or all of one or both hemidiaphragms, resulting in superior displacement of abdominal viscera and altered lung development.\n", + " definition of HP:0009110 (Diaphragmatic eventration)\n", + " \n", + " \n", + " Hypoglycemia\n", + " definition of HP:0001943 (Hypoglycemia)\n", + " \n", + " \n", + " A decreased concentration of glucose in the blood.\n", + " definition of HP:0001943 (Hypoglycemia)\n", + " \n", + " \n", + " #Hypoglycaemia #Low blood sugar\n", + " definition of HP:0001943 (Hypoglycemia)\n", + " \n", + " \n", + " Gordon reflex\n", + " definition of HP:0030181 (Gordon reflex)\n", + " \n", + " \n", + " Dorsal extension of the big toe, sometimes accompanied by fanning of the other toes, elicited by compressing the calf muscles (a normal response is no movement of the big toe).\n", + " definition of HP:0030181 (Gordon reflex)\n", + " \n", + " \n", + " #Gordon sign\n", + " definition of HP:0030181 (Gordon reflex)\n", + " \n", + " \n", + " Incisional hernia\n", + " definition of HP:0004872 (Incisional hernia)\n", + " \n", + " \n", + " An abdominal hernia that occurs at a site of weakness in the abdominal wall resulting from an incompletely-healed surgical wound.\n", + " definition of HP:0004872 (Incisional hernia)\n", + " \n", + " \n", + " #Recurrent abdominal hernia\n", + " definition of HP:0004872 (Incisional hernia)\n", + " \n", + " \n", + " Fasciculations\n", + " definition of HP:0002380 (Fasciculations)\n", + " \n", + " \n", + " Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units.\n", + " definition of HP:0002380 (Fasciculations)\n", + " \n", + " \n", + " #Fasciculation #Muscle fasciculation #Muscle twitch\n", + " definition of HP:0002380 (Fasciculations)\n", + " \n", + " \n", + " Small yellow foveal lesion with surrounding gray zone\n", + " definition of HP:0031420 (Small yellow foveal lesion with surrounding gray zone)\n", + " \n", + " \n", + " A lesion that is observed following light damage to the macula. Damage to the retinal by exposure to intense visible light, usually the sun. Intense light exposure such as staring at the sun causes fine structural anomalies in the outer segments of the photoreceptors and the retinal pigment epithelium (RPE) cells of the macula. Symptoms usually develop within 1 to 4 h after exposure and include decreased vision, metamorphopsia, micropsia, and central or paracentral scotomas. Fundus examination typically shows a small yellow spot with a surrounding gray zone in the foveolar or parafoveolar area. Spontaneous evolution leads to the improvement of visual acuity.\n", + " definition of HP:0031420 (Small yellow foveal lesion with surrounding gray zone)\n", + " \n", + " \n", + " #Small yellow foveal lesion with surrounding grey zone\n", + " definition of HP:0031420 (Small yellow foveal lesion with surrounding gray zone)\n", + " \n", + " \n", + " Epiblepharon of lower lid\n", + " definition of HP:0040151 (Epiblepharon of lower lid)\n", + " \n", + " \n", + " Poorly defined primary lymph-node follicles\n", + " definition of HP:0020261 (Poorly defined primary lymph-node follicles)\n", + " \n", + " \n", + " Lack of the typical easily recognized delineation of primary follicles within lymph nodes.\n", + " definition of HP:0020261 (Poorly defined primary lymph-node follicles)\n", + " \n", + " \n", + " Recurrent vulvovaginal candidiasis\n", + " definition of HP:0012204 (Recurrent vulvovaginal candidiasis)\n", + " \n", + " \n", + " Recurrent infection involving the vulva, vagina, and adjacent crural areas, whereby the causative agent belongs to the genus Candida.\n", + " definition of HP:0012204 (Recurrent vulvovaginal candidiasis)\n", + " \n", + " \n", + " Nail dystrophy\n", + " definition of HP:0008404 (Nail dystrophy)\n", + " \n", + " \n", + " Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.\n", + " definition of HP:0008404 (Nail dystrophy)\n", + " \n", + " \n", + " #Dystrophic nails #Onychodystrophy #Poor nail formation\n", + " definition of HP:0008404 (Nail dystrophy)\n", + " \n", + " \n", + " Hyperactive Achilles reflex\n", + " definition of HP:0033206 (Hyperactive Achilles reflex)\n", + " \n", + " \n", + " Increased intensity of the Achilles reflex.\n", + " definition of HP:0033206 (Hyperactive Achilles reflex)\n", + " \n", + " \n", + " #Hyperactive ankle jerk reflex #Hyperactive ankle reflex\n", + " definition of HP:0033206 (Hyperactive Achilles reflex)\n", + " \n", + " \n", + " Bronchial artery hypertrophy\n", + " definition of HP:0033391 (Bronchial artery hypertrophy)\n", + " \n", + " \n", + " Increase in the volume of bronchial artery wall due to the enlargement of its component cells.\n", + " definition of HP:0033391 (Bronchial artery hypertrophy)\n", + " \n", + " \n", + " Middle cerebral artery calcification\n", + " definition of HP:0031311 (Middle cerebral artery calcification)\n", + " \n", + " \n", + " An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the middle cerebral artery.\n", + " definition of HP:0031311 (Middle cerebral artery calcification)\n", + " \n", + " \n", + " Granulomatosis\n", + " definition of HP:0002955 (Granulomatosis)\n", + " \n", + " \n", + " A granulomatous inflammation leading to multiple granuloma formation, which is a specific type of inflammation. A granuloma is a focal compact collection of inflammatory cells, mononuclear cells predominating, usually as a result of the persistence of a non-degradable product and of active cell mediated hypersensitivity.\n", + " definition of HP:0002955 (Granulomatosis)\n", + " \n", + " \n", + " Abnormal circulating aspartic acid concentration\n", + " definition of HP:0500158 (Abnormal circulating aspartic acid concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of aspartate in the blood circulation.\n", + " definition of HP:0500158 (Abnormal circulating aspartic acid concentration)\n", + " \n", + " \n", + " #Abnormal circulating aspartate concentration\n", + " definition of HP:0500158 (Abnormal circulating aspartic acid concentration)\n", + " \n", + " \n", + " Abnormality of the adrenal glands\n", + " definition of HP:0000834 (Abnormality of the adrenal glands)\n", + " \n", + " \n", + " Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys.\n", + " definition of HP:0000834 (Abnormality of the adrenal glands)\n", + " \n", + " \n", + " #Adrenal abnormalities\n", + " definition of HP:0000834 (Abnormality of the adrenal glands)\n", + " \n", + " \n", + " Abnormal muscle fiber merosin expression\n", + " definition of HP:0030090 (Abnormal muscle fiber merosin expression)\n", + " \n", + " \n", + " An anomalous amount of merosin in muscle fibers. Merosin is a basement membrane-associated protein found in placenta, striated muscle, and peripheral nerve.\n", + " definition of HP:0030090 (Abnormal muscle fiber merosin expression)\n", + " \n", + " \n", + " #Abnormal muscle fibre merosin expression\n", + " definition of HP:0030090 (Abnormal muscle fiber merosin expression)\n", + " \n", + " \n", + " Patchy sclerosis of distal phalanx of finger\n", + " definition of HP:0009840 (Patchy sclerosis of distal phalanx of finger)\n", + " \n", + " \n", + " Uneven (irregular) increase in bone density of the distal phalanges of the hand.\n", + " definition of HP:0009840 (Patchy sclerosis of distal phalanx of finger)\n", + " \n", + " \n", + " #Patchy sclerosis of the distal phalanges of the hand #Uneven increase in bone density in outermost finger bone\n", + " definition of HP:0009840 (Patchy sclerosis of distal phalanx of finger)\n", + " \n", + " \n", + " Exacerbated by heat\n", + " definition of HP:6001076 (Exacerbated by heat)\n", + " \n", + " \n", + " Applied to a sign or symptom that is made worse by exposure to heat (high ambient temperatures).\n", + " definition of HP:6001076 (Exacerbated by heat)\n", + " \n", + " \n", + " #Aggravated by high temperatures\n", + " definition of HP:6001076 (Exacerbated by heat)\n", + " \n", + " \n", + " Chest tightness\n", + " definition of HP:0031352 (Chest tightness)\n", + " \n", + " \n", + " An unpleasant sensation of tightness or pressure in the chest.\n", + " definition of HP:0031352 (Chest tightness)\n", + " \n", + " \n", + " #Tightness in chest #Tightness of chest\n", + " definition of HP:0031352 (Chest tightness)\n", + " \n", + " \n", + " Abnormal frontalis muscle physiology\n", + " definition of HP:3000004 (Abnormal frontalis muscle physiology)\n", + " \n", + " \n", + " Abnormal function of the frontalis muscle, which covers parts of the forehead and is responsible for raising the eyebrows.\n", + " definition of HP:3000004 (Abnormal frontalis muscle physiology)\n", + " \n", + " \n", + " Vertebral clefting\n", + " definition of HP:0008428 (Vertebral clefting)\n", + " \n", + " \n", + " Schisis (cleft or cleavage) of vertebral bodies.\n", + " definition of HP:0008428 (Vertebral clefting)\n", + " \n", + " \n", + " #Vertebral clefts\n", + " definition of HP:0008428 (Vertebral clefting)\n", + " \n", + " \n", + " Anomalous trichromacy\n", + " definition of HP:0011519 (Anomalous trichromacy)\n", + " \n", + " \n", + " Individuals with anomalous trichromacy possess three types of cones, but one of the three types of cones has an abnormal spectral sensitivity compared to normal cones.\n", + " definition of HP:0011519 (Anomalous trichromacy)\n", + " \n", + " \n", + " Complete duplication of the proximal phalanx of the 3rd finger\n", + " definition of HP:0009967 (Complete duplication of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Complete duplication of the third proximal phalanx of hand.\n", + " definition of HP:0009967 (Complete duplication of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Complete duplication of the innermost bone of the 3rd finger\n", + " definition of HP:0009967 (Complete duplication of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Short uvula\n", + " definition of HP:0010812 (Short uvula)\n", + " \n", + " \n", + " Decreased length of the uvula.\n", + " definition of HP:0010812 (Short uvula)\n", + " \n", + " \n", + " #Hypoplastic uvula #Short palatine uvula\n", + " definition of HP:0010812 (Short uvula)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the middle phalanx of the 2nd toe\n", + " definition of HP:0010404 (Aplasia/Hypoplasia of the middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Absent/small middle bone of 2nd toe #Absent/underdeveloped middle bone of 2nd toe\n", + " definition of HP:0010404 (Aplasia/Hypoplasia of the middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " Freckling\n", + " definition of HP:0001480 (Freckling)\n", + " \n", + " \n", + " The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.\n", + " definition of HP:0001480 (Freckling)\n", + " \n", + " \n", + " #Freckling\n", + " definition of HP:0001480 (Freckling)\n", + " \n", + " \n", + " Fallopian tube carcinoma\n", + " definition of HP:0030394 (Fallopian tube carcinoma)\n", + " \n", + " \n", + " Carcinoma that originates in the Fallopian tube. It may be located in the wall or within the lumen as a growth attached to the wall by a stalk.\n", + " definition of HP:0030394 (Fallopian tube carcinoma)\n", + " \n", + " \n", + " Triggered by high-fat diet\n", + " definition of HP:0025217 (Triggered by high-fat diet)\n", + " \n", + " \n", + " Applies to a sign or symptom that is provoked or brought about by eating a diet high in lipids.\n", + " definition of HP:0025217 (Triggered by high-fat diet)\n", + " \n", + " \n", + " #High-fat diet triggered symptoms #Triggered by high-fat diet\n", + " definition of HP:0025217 (Triggered by high-fat diet)\n", + " \n", + " \n", + " Absent mastoid\n", + " definition of HP:0012761 (Absent mastoid)\n", + " \n", + " \n", + " A developmental anomaly in which the mastoid process fails to form and is thus found to be congenitally absent.\n", + " definition of HP:0012761 (Absent mastoid)\n", + " \n", + " \n", + " #Absent mastoids #Failure of development of mastoid #Mastoid agenesis\n", + " definition of HP:0012761 (Absent mastoid)\n", + " \n", + " \n", + " Abnormal gastric mucosa morphology\n", + " definition of HP:0004295 (Abnormal gastric mucosa morphology)\n", + " \n", + " \n", + " An abnormality of the gastric mucous membrane.\n", + " definition of HP:0004295 (Abnormal gastric mucosa morphology)\n", + " \n", + " \n", + " #Abnormality of the gastric mucosa #Abnormality of the mucous membrane layer of stomach\n", + " definition of HP:0004295 (Abnormal gastric mucosa morphology)\n", + " \n", + " \n", + " Fatty casts\n", + " definition of HP:0031203 (Fatty casts)\n", + " \n", + " \n", + " A type of acellular urinary casts that contain lipid droplets, oval fat bodies or cholesterol crystals, and are often associated with the free forms of these elements. Their identification may require the use of polarized light microscopy, under which fatty particles embedded into the cast matrix appear as Maltese crosses.\n", + " definition of HP:0031203 (Fatty casts)\n", + " \n", + " \n", + " Decreased circulating vitamin B1 concentration\n", + " definition of HP:0100503 (Decreased circulating vitamin B1 concentration)\n", + " \n", + " \n", + " The concentration of vitamin B1 in the blood circulation is below the lower limit of normal.\n", + " definition of HP:0100503 (Decreased circulating vitamin B1 concentration)\n", + " \n", + " \n", + " #Low levels of vitamin B1 #Reduced blood thiamine level #Vitamin B1 deficiency\n", + " definition of HP:0100503 (Decreased circulating vitamin B1 concentration)\n", + " \n", + " \n", + " Abnormal humerus morphology\n", + " definition of HP:0031095 (Abnormal humerus morphology)\n", + " \n", + " \n", + " Any anomaly of the structure of the humerus.\n", + " definition of HP:0031095 (Abnormal humerus morphology)\n", + " \n", + " \n", + " Fragmentation of the epiphysis of the middle phalanx of the 2nd toe\n", + " definition of HP:0100115 (Fragmentation of the epiphysis of the middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Fragmentation of the end part of the middle bone of the 2nd toe\n", + " definition of HP:0100115 (Fragmentation of the epiphysis of the middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " Elevated myocardial native T2\n", + " definition of HP:4000003 (Elevated myocardial native T2)\n", + " \n", + " \n", + " Increased duration of myocardial T2 time without gadolinium contrast. Elevated T2, which can detect myocardial edema.\n", + " definition of HP:4000003 (Elevated myocardial native T2)\n", + " \n", + " \n", + " Cartilaginous ossification of nose\n", + " definition of HP:0005275 (Cartilaginous ossification of nose)\n", + " \n", + " \n", + " #Cartilaginous nasal ossification\n", + " definition of HP:0005275 (Cartilaginous ossification of nose)\n", + " \n", + " \n", + " Abnormal sperm tail morphology\n", + " definition of HP:0012868 (Abnormal sperm tail morphology)\n", + " \n", + " \n", + " A structural abnormality of the sperm tail.\n", + " definition of HP:0012868 (Abnormal sperm tail morphology)\n", + " \n", + " \n", + " #Sperm tail anomaly\n", + " definition of HP:0012868 (Abnormal sperm tail morphology)\n", + " \n", + " \n", + " Abnormal circulating lysine concentration\n", + " definition of HP:0010908 (Abnormal circulating lysine concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of lysine in the blood circulation.\n", + " definition of HP:0010908 (Abnormal circulating lysine concentration)\n", + " \n", + " \n", + " #Abnormality of lysine metabolism\n", + " definition of HP:0010908 (Abnormal circulating lysine concentration)\n", + " \n", + " \n", + " Red-brown urine\n", + " definition of HP:0040320 (Red-brown urine)\n", + " \n", + " \n", + " An abnormal red-brown color of the urine.\n", + " definition of HP:0040320 (Red-brown urine)\n", + " \n", + " \n", + " #red brown urine\n", + " definition of HP:0040320 (Red-brown urine)\n", + " \n", + " \n", + " Esophageal diverticulum\n", + " definition of HP:0100628 (Esophageal diverticulum)\n", + " \n", + " \n", + " The presence of a diverticulum of the esophagus.\n", + " definition of HP:0100628 (Esophageal diverticulum)\n", + " \n", + " \n", + " #Esophageal pouch\n", + " definition of HP:0100628 (Esophageal diverticulum)\n", + " \n", + " \n", + " Prenatal movement abnormality\n", + " definition of HP:0001557 (Prenatal movement abnormality)\n", + " \n", + " \n", + " An abnormality of fetal movement.\n", + " definition of HP:0001557 (Prenatal movement abnormality)\n", + " \n", + " \n", + " #Abnormal intrauterine movements\n", + " definition of HP:0001557 (Prenatal movement abnormality)\n", + " \n", + " \n", + " Abnormally straight spine\n", + " definition of HP:0100795 (Abnormally straight spine)\n", + " \n", + " \n", + " The absence of the normal curvature of the vertebral column.\n", + " definition of HP:0100795 (Abnormally straight spine)\n", + " \n", + " \n", + " #Abnormally straight spine\n", + " definition of HP:0100795 (Abnormally straight spine)\n", + " \n", + " \n", + " Asymmetry of the breasts\n", + " definition of HP:0010312 (Asymmetry of the breasts)\n", + " \n", + " \n", + " The presence of asymmetrical breasts.\n", + " definition of HP:0010312 (Asymmetry of the breasts)\n", + " \n", + " \n", + " Bifid femur\n", + " definition of HP:0010443 (Bifid femur)\n", + " \n", + " \n", + " A bifid or bifurcated appearance of the femur as seen on x-rays, possible appearing as a more or less severe bowing of the upper leg. Might be associated with hip dysplasia on the affected side.\n", + " definition of HP:0010443 (Bifid femur)\n", + " \n", + " \n", + " #Notched thighbone #Split thighbone\n", + " definition of HP:0010443 (Bifid femur)\n", + " \n", + " \n", + " Fragmentation of the epiphyses of the 3rd toe\n", + " definition of HP:0100059 (Fragmentation of the epiphyses of the 3rd toe)\n", + " \n", + " \n", + " #Fragmentation of the end part of the 3rd toe bone\n", + " definition of HP:0100059 (Fragmentation of the epiphyses of the 3rd toe)\n", + " \n", + " \n", + " Thymus hyperplasia\n", + " definition of HP:0010516 (Thymus hyperplasia)\n", + " \n", + " \n", + " Enlargement of the thymus.\n", + " definition of HP:0010516 (Thymus hyperplasia)\n", + " \n", + " \n", + " #Enlarged thymus #Thymic hyperplasia\n", + " definition of HP:0010516 (Thymus hyperplasia)\n", + " \n", + " \n", + " Excessive eructation\n", + " definition of HP:6000064 (Excessive eructation)\n", + " \n", + " \n", + " Abnormally frequent belching (expelling gas noisily from the stomach through the mouth).\n", + " definition of HP:6000064 (Excessive eructation)\n", + " \n", + " \n", + " #Excessive belching #Excessive burping\n", + " definition of HP:6000064 (Excessive eructation)\n", + " \n", + " \n", + " Dextrotransposition of the great arteries\n", + " definition of HP:0031348 (Dextrotransposition of the great arteries)\n", + " \n", + " \n", + " A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the right of the pulmonary artery. This is the most common kind of TGA.\n", + " definition of HP:0031348 (Dextrotransposition of the great arteries)\n", + " \n", + " \n", + " #D-loop transposition of the great arteries #D-TGA\n", + " definition of HP:0031348 (Dextrotransposition of the great arteries)\n", + " \n", + " \n", + " Abnormal nasolacrimal system morphology\n", + " definition of HP:0000614 (Abnormal nasolacrimal system morphology)\n", + " \n", + " \n", + " An abnormality of the nasolacrimal drainage system, which serves as a conduit for tear flow from the external eye to the nasal cavity.\n", + " definition of HP:0000614 (Abnormal nasolacrimal system morphology)\n", + " \n", + " \n", + " #Abnormality of the nasolacrimal system\n", + " definition of HP:0000614 (Abnormal nasolacrimal system morphology)\n", + " \n", + " \n", + " Praxis-induced seizure\n", + " definition of HP:0020210 (Praxis-induced seizure)\n", + " \n", + " \n", + " A seizure precipitated by complex, cognition-guided tasks often involving visuomotor coordination and decision-making.\n", + " definition of HP:0020210 (Praxis-induced seizure)\n", + " \n", + " \n", + " Increased overbite\n", + " definition of HP:0011094 (Increased overbite)\n", + " \n", + " \n", + " Maxillary teeth cover the mandibular teeth when biting to an increased degree. The feature is defined as a vertical overlap of the maxillary incisors over the mandibular incisors that exceeds 2 mm.\n", + " definition of HP:0011094 (Increased overbite)\n", + " \n", + " \n", + " #Increased overlap of upper and lower incisors #Overbite #Supraocclusion\n", + " definition of HP:0011094 (Increased overbite)\n", + " \n", + " \n", + " Decreased lymphocyte apoptosis\n", + " definition of HP:0002731 (Decreased lymphocyte apoptosis)\n", + " \n", + " \n", + " A reduction in the rate of apoptosis in lymphocytes.\n", + " definition of HP:0002731 (Decreased lymphocyte apoptosis)\n", + " \n", + " \n", + " #Defective lymphocyte apoptosis\n", + " definition of HP:0002731 (Decreased lymphocyte apoptosis)\n", + " \n", + " \n", + " Decreased motor nerve conduction velocity\n", + " definition of HP:0003431 (Decreased motor nerve conduction velocity)\n", + " \n", + " \n", + " A type of decreased nerve conduction velocity that affects the motor neuron.\n", + " definition of HP:0003431 (Decreased motor nerve conduction velocity)\n", + " \n", + " \n", + " #Decreased motor NCV #Decreased motor nerve conduction velocities #Reduced motor nerve conduction velocity\n", + " definition of HP:0003431 (Decreased motor nerve conduction velocity)\n", + " \n", + " \n", + " Endocrine-type tubular atrophy\n", + " definition of HP:0032609 (Endocrine-type tubular atrophy)\n", + " \n", + " \n", + " A type of renal tubular atrophy characterized by endocrine-like appearance of tubules, which are small and have narrow lumina, clear cells, and relatively thin basement membranes.\n", + " definition of HP:0032609 (Endocrine-type tubular atrophy)\n", + " \n", + " \n", + " #Endocrinization pattern of tubular atrophy #Renal tubular atrophy, endocrine-type\n", + " definition of HP:0032609 (Endocrine-type tubular atrophy)\n", + " \n", + " \n", + " Pain in head and neck region\n", + " definition of HP:0046506 (Pain in head and neck region)\n", + " \n", + " \n", + " Butterfly vertebral arch\n", + " definition of HP:0004617 (Butterfly vertebral arch)\n", + " \n", + " \n", + " Butterfly vertebrae have a cleft through the body of the vertebrae and a funnel shape at the ends.\n", + " definition of HP:0004617 (Butterfly vertebral arch)\n", + " \n", + " \n", + " Cicatricial ectropion\n", + " definition of HP:0025608 (Cicatricial ectropion)\n", + " \n", + " \n", + " An outward turning (eversion) or rotation of the eyelid margin (i.e., ectropion) caused by shortening or contraction of the anterior or middle lamellae related to scarring.\n", + " definition of HP:0025608 (Cicatricial ectropion)\n", + " \n", + " \n", + " Short upper eyelashes\n", + " definition of HP:0040054 (Short upper eyelashes)\n", + " \n", + " \n", + " #Decreased length of upper eyelashes #Short upper eyelashes\n", + " definition of HP:0040054 (Short upper eyelashes)\n", + " \n", + " \n", + " Hyperactive bowel sounds\n", + " definition of HP:0030143 (Hyperactive bowel sounds)\n", + " \n", + " \n", + " Abnormally increased gurgling/rumbling sounds made by the movement of fluid and gas in the intestines.\n", + " definition of HP:0030143 (Hyperactive bowel sounds)\n", + " \n", + " \n", + " #Borborygmi #Increased bowel sounds\n", + " definition of HP:0030143 (Hyperactive bowel sounds)\n", + " \n", + " \n", + " Cerebral inclusion bodies\n", + " definition of HP:0100314 (Cerebral inclusion bodies)\n", + " \n", + " \n", + " Nuclear or cytoplasmic aggregates of stainable substances within cells of the brain.\n", + " definition of HP:0100314 (Cerebral inclusion bodies)\n", + " \n", + " \n", + " Contracture of the distal interphalangeal joint of the 3rd toe\n", + " definition of HP:0100353 (Contracture of the distal interphalangeal joint of the 3rd toe)\n", + " \n", + " \n", + " The distal interphalangeal joint of the 3rd toe cannot be straightened actively or passively.\n", + " definition of HP:0100353 (Contracture of the distal interphalangeal joint of the 3rd toe)\n", + " \n", + " \n", + " Coronary-pulmonary artery fistula\n", + " definition of HP:0025516 (Coronary-pulmonary artery fistula)\n", + " \n", + " \n", + " A congenital malformation with abnormal connection between one of the coronary arteries and the pulmonary artery.\n", + " definition of HP:0025516 (Coronary-pulmonary artery fistula)\n", + " \n", + " \n", + " Spontaneous conjunctival filtering bleb\n", + " definition of HP:0020125 (Spontaneous conjunctival filtering bleb)\n", + " \n", + " \n", + " Avascular cystic elevations of the superior conjunctiva not related to ocular surgery or trauma.\n", + " definition of HP:0020125 (Spontaneous conjunctival filtering bleb)\n", + " \n", + " \n", + " #Conjunctival avascular cysts (filtering blebs) #Spontaneous filtering bleb\n", + " definition of HP:0020125 (Spontaneous conjunctival filtering bleb)\n", + " \n", + " \n", + " Renal insufficiency\n", + " definition of HP:0000083 (Renal insufficiency)\n", + " \n", + " \n", + " A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.\n", + " definition of HP:0000083 (Renal insufficiency)\n", + " \n", + " \n", + " #Renal failure #Renal failure in adulthood\n", + " definition of HP:0000083 (Renal insufficiency)\n", + " \n", + " \n", + " Central nail canal\n", + " definition of HP:0030818 (Central nail canal)\n", + " \n", + " \n", + " The presence of a depressed line (canal) in the center of the nail.\n", + " definition of HP:0030818 (Central nail canal)\n", + " \n", + " \n", + " #Median nail dystrophy\n", + " definition of HP:0030818 (Central nail canal)\n", + " \n", + " \n", + " Optically empty vitreous\n", + " definition of HP:0030663 (Optically empty vitreous)\n", + " \n", + " \n", + " Vestigial vitreous gel occupying the immediate retrolental space and minimal to no discernible gel in the central vitreous cavity, giving the appearance of an empty vitreous cavity.\n", + " definition of HP:0030663 (Optically empty vitreous)\n", + " \n", + " \n", + " Elevated circulating hepatic transaminase concentration\n", + " definition of HP:0002910 (Elevated circulating hepatic transaminase concentration)\n", + " \n", + " \n", + " Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.\n", + " definition of HP:0002910 (Elevated circulating hepatic transaminase concentration)\n", + " \n", + " \n", + " #Abnormal liver enzymes #Abnormal liver function #Abnormal liver function tests #Elevated circulating hepatic transaminase activity #Elevated liver enzymes #Elevated serum transaminases #Elevated transaminases #High liver enzymes #Increased liver enzymes #Increased liver function tests #Increased transaminases #Raised liver enzymes #Subclinical abnormal liver function tests\n", + " definition of HP:0002910 (Elevated circulating hepatic transaminase concentration)\n", + " \n", + " \n", + " Prominent umbilicus\n", + " definition of HP:0001544 (Prominent umbilicus)\n", + " \n", + " \n", + " Abnormally prominent umbilicus (belly button).\n", + " definition of HP:0001544 (Prominent umbilicus)\n", + " \n", + " \n", + " #Prominent belly button #Prominent navel\n", + " definition of HP:0001544 (Prominent umbilicus)\n", + " \n", + " \n", + " Reduced epidermal bullous pemphigoid antigen 1 protein expression\n", + " definition of HP:0034576 (Reduced epidermal bullous pemphigoid antigen 1 protein expression)\n", + " \n", + " \n", + " Lower than normal amount of bullous pemphigoid antigen 1 (BP230) in the epidermis.\n", + " definition of HP:0034576 (Reduced epidermal bullous pemphigoid antigen 1 protein expression)\n", + " \n", + " \n", + " #Skin biopsy: BPAG1-e antibody staining abnormal or absent\n", + " definition of HP:0034576 (Reduced epidermal bullous pemphigoid antigen 1 protein expression)\n", + " \n", + " \n", + " Anterior blepharitis\n", + " definition of HP:0025609 (Anterior blepharitis)\n", + " \n", + " \n", + " A type of blepharitis that affects the eyelid skin, base of the eyelashes, and the eyelash follicles.\n", + " definition of HP:0025609 (Anterior blepharitis)\n", + " \n", + " \n", + " Duplication of the proximal phalanx of hand\n", + " definition of HP:0010006 (Duplication of the proximal phalanx of hand)\n", + " \n", + " \n", + " This term applies if one or more of the proximal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.\n", + " definition of HP:0010006 (Duplication of the proximal phalanx of hand)\n", + " \n", + " \n", + " #Duplication of the innermost bones of hand #Partial/complete duplication of the proximal phalanges of the hand\n", + " definition of HP:0010006 (Duplication of the proximal phalanx of hand)\n", + " \n", + " \n", + " Incomplete ossification of pubis\n", + " definition of HP:0030042 (Incomplete ossification of pubis)\n", + " \n", + " \n", + " Failure to complete ossification (maturation and calcification) of the pubic bone.\n", + " definition of HP:0030042 (Incomplete ossification of pubis)\n", + " \n", + " \n", + " Extremely preterm birth\n", + " definition of HP:0025665 (Extremely preterm birth)\n", + " \n", + " \n", + " Birth before 28 completed weeks of gestation (up to and including 27 weeks and 6 days of gestation).\n", + " definition of HP:0025665 (Extremely preterm birth)\n", + " \n", + " \n", + " Pharyngalgia\n", + " definition of HP:0033050 (Pharyngalgia)\n", + " \n", + " \n", + " An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the throat.\n", + " definition of HP:0033050 (Pharyngalgia)\n", + " \n", + " \n", + " #Pharyngodynia #Sore throat #Throat discomfort #Throat pain\n", + " definition of HP:0033050 (Pharyngalgia)\n", + " \n", + " \n", + " Clasp-knife sign\n", + " definition of HP:0031866 (Clasp-knife sign)\n", + " \n", + " \n", + " Clasp-knife phenomenon refers to increased muscle tone while bending or stretching a limb, whereby there is a sudden relaxation (decrease in resistance) as the muscle continues to be stretched. This phenomenon has been likened to opening a clasp knife.\n", + " definition of HP:0031866 (Clasp-knife sign)\n", + " \n", + " \n", + " Osteolytic defects of the phalanges of the 2nd finger\n", + " definition of HP:0009550 (Osteolytic defects of the phalanges of the 2nd finger)\n", + " \n", + " \n", + " #Lytic defect in index finger phalanges\n", + " definition of HP:0009550 (Osteolytic defects of the phalanges of the 2nd finger)\n", + " \n", + " \n", + " Diplopia\n", + " definition of HP:0000651 (Diplopia)\n", + " \n", + " \n", + " Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.\n", + " definition of HP:0000651 (Diplopia)\n", + " \n", + " \n", + " #Double vision\n", + " definition of HP:0000651 (Diplopia)\n", + " \n", + " \n", + " Abnormal rib ossification\n", + " definition of HP:0012306 (Abnormal rib ossification)\n", + " \n", + " \n", + " An anomaly of the process of rib bone formation.\n", + " definition of HP:0012306 (Abnormal rib ossification)\n", + " \n", + " \n", + " Advanced ossification of carpal bones\n", + " definition of HP:0004233 (Advanced ossification of carpal bones)\n", + " \n", + " \n", + " Ossification of carpal bones at an abnormally early age.\n", + " definition of HP:0004233 (Advanced ossification of carpal bones)\n", + " \n", + " \n", + " #Accelerated carpal bone maturation #Advanced carpal bone age #Advanced carpal ossification #Precociously ossified carpal bones\n", + " definition of HP:0004233 (Advanced ossification of carpal bones)\n", + " \n", + " \n", + " Cardiac tamponade\n", + " definition of HP:0033415 (Cardiac tamponade)\n", + " \n", + " \n", + " The accumulation of pericardial fluid with subsequent compression of all cardiac chambers which prevents cardiac filling.\n", + " definition of HP:0033415 (Cardiac tamponade)\n", + " \n", + " \n", + " Decreased eosinophil count\n", + " definition of HP:0031891 (Decreased eosinophil count)\n", + " \n", + " \n", + " Abnormal reduction in the count of eosinophils in the blood per volume.\n", + " definition of HP:0031891 (Decreased eosinophil count)\n", + " \n", + " \n", + " Coarse hair\n", + " definition of HP:0002208 (Coarse hair)\n", + " \n", + " \n", + " Hair shafts are rough in texture.\n", + " definition of HP:0002208 (Coarse hair)\n", + " \n", + " \n", + " #Coarse hair #Coarse hair texture\n", + " definition of HP:0002208 (Coarse hair)\n", + " \n", + " \n", + " Abnormality of the epiphysis of the distal phalanx of the 2nd toe\n", + " definition of HP:0100088 (Abnormality of the epiphysis of the distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Abnormality of the end part of the outermost bone of the 2nd toe\n", + " definition of HP:0100088 (Abnormality of the epiphysis of the distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Abnormal urine potassium concentration\n", + " definition of HP:0012598 (Abnormal urine potassium concentration)\n", + " \n", + " \n", + " An abnormal concentration of potassium(1+) in the urine.\n", + " definition of HP:0012598 (Abnormal urine potassium concentration)\n", + " \n", + " \n", + " #Abnormal urine K concentration\n", + " definition of HP:0012598 (Abnormal urine potassium concentration)\n", + " \n", + " \n", + " Hand pain\n", + " definition of HP:0046505 (Hand pain)\n", + " \n", + " \n", + " An unpleasant sensation characterized by physical discomfort localized to the hand.\n", + " definition of HP:0046505 (Hand pain)\n", + " \n", + " \n", + " Increased complex N-glycan level\n", + " definition of HP:0410352 (Increased complex N-glycan level)\n", + " \n", + " \n", + " An abnormal increase in the concentration of complex N-glycans on glycoproteins.\n", + " definition of HP:0410352 (Increased complex N-glycan level)\n", + " \n", + " \n", + " #Increased concentration of complex N-glycans on glycoproteins\n", + " definition of HP:0410352 (Increased complex N-glycan level)\n", + " \n", + " \n", + " Hypochromic microcytic anemia\n", + " definition of HP:0004840 (Hypochromic microcytic anemia)\n", + " \n", + " \n", + " A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes.\n", + " definition of HP:0004840 (Hypochromic microcytic anemia)\n", + " \n", + " \n", + " #Hypochromic microcytic anaemia #Hypochromic, microcytic anaemia #Hypochromic, microcytic anemia\n", + " definition of HP:0004840 (Hypochromic microcytic anemia)\n", + " \n", + " \n", + " Transitional atrioventricular canal defect\n", + " definition of HP:0011578 (Transitional atrioventricular canal defect)\n", + " \n", + " \n", + " A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and an inlet ventricular septal defect. There are two valve annuli and two valve orifices.\n", + " definition of HP:0011578 (Transitional atrioventricular canal defect)\n", + " \n", + " \n", + " Febrile seizure (within the age range of 3 months to 6 years)\n", + " definition of HP:0002373 (Febrile seizure (within the age range of 3 months to 6 years))\n", + " \n", + " \n", + " A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years.\n", + " definition of HP:0002373 (Febrile seizure (within the age range of 3 months to 6 years))\n", + " \n", + " \n", + " #Febrile convulsion #Febrile seizures #Fever induced seizures #Seizures, febrile, in early childhood #Seizures, generalized, associated with fever\n", + " definition of HP:0002373 (Febrile seizure (within the age range of 3 months to 6 years))\n", + " \n", + " \n", + " Impairment of the reflex of the tensor tympani muscle\n", + " definition of HP:0040123 (Impairment of the reflex of the tensor tympani muscle)\n", + " \n", + " \n", + " Renal arteriole leukocytic endoarterial hypercellularity\n", + " definition of HP:0033922 (Renal arteriole leukocytic endoarterial hypercellularity)\n", + " \n", + " \n", + " A type of renal arteriole endoarterial hypercellularity due to increased number of white blood cells (leukocytes).\n", + " definition of HP:0033922 (Renal arteriole leukocytic endoarterial hypercellularity)\n", + " \n", + " \n", + " Tibialis anterior muscle atrophy\n", + " definition of HP:0011399 (Tibialis anterior muscle atrophy)\n", + " \n", + " \n", + " Wasting of the tibialis anterior muscle.\n", + " definition of HP:0011399 (Tibialis anterior muscle atrophy)\n", + " \n", + " \n", + " #Sharp shin sign #Tibialis anterior amyotrophy #Tibialis muscle degeneration\n", + " definition of HP:0011399 (Tibialis anterior muscle atrophy)\n", + " \n", + " \n", + " Glue ear\n", + " definition of HP:0040262 (Glue ear)\n", + " \n", + " \n", + " Middle ear is filled with glue-like fluid instead of air.\n", + " definition of HP:0040262 (Glue ear)\n", + " \n", + " \n", + " Low tissue non-specific alkaline phosphatase\n", + " definition of HP:0010683 (Low tissue non-specific alkaline phosphatase)\n", + " \n", + " \n", + " An abnormally reduced level of alkaline phosphatase, tissue-nonspecific isozyme in the blood.\n", + " definition of HP:0010683 (Low tissue non-specific alkaline phosphatase)\n", + " \n", + " \n", + " #Low tissue non-specific ALP\n", + " definition of HP:0010683 (Low tissue non-specific alkaline phosphatase)\n", + " \n", + " \n", + " Grade I preterm intraventricular hemorrhage\n", + " definition of HP:0030748 (Grade I preterm intraventricular hemorrhage)\n", + " \n", + " \n", + " Intraventricular hemorrhage that occurs in a preterm infant and that is restricted to subependymal region/germline matrix which is seen in the caudothalamic groove.\n", + " definition of HP:0030748 (Grade I preterm intraventricular hemorrhage)\n", + " \n", + " \n", + " #Germinal matrix haemorrhage #Germinal matrix hemorrhage #Grade I preterm intraventricular haemorrhage\n", + " definition of HP:0030748 (Grade I preterm intraventricular hemorrhage)\n", + " \n", + " \n", + " Abnormal immune system morphology\n", + " definition of HP:0032251 (Abnormal immune system morphology)\n", + " \n", + " \n", + " Distributed along skin tension lines\n", + " definition of HP:0034433 (Distributed along skin tension lines)\n", + " \n", + " \n", + " Applies to the localization of a skin lesion that correspond to skin tension lines, which are linear clefts in the skin that indicate the direction of orientation of the underlying collagen fibers. Skin tension lines are also known as Langer's lines or lines of cleavage.\n", + " definition of HP:0034433 (Distributed along skin tension lines)\n", + " \n", + " \n", + " #Distributed along Langer's lines #Lesions follow lines of cleavage\n", + " definition of HP:0034433 (Distributed along skin tension lines)\n", + " \n", + " \n", + " Elevated urinary thymine level\n", + " definition of HP:6000331 (Elevated urinary thymine level)\n", + " \n", + " \n", + " The amount of thymine in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000331 (Elevated urinary thymine level)\n", + " \n", + " \n", + " Feeding difficulties\n", + " definition of HP:0011968 (Feeding difficulties)\n", + " \n", + " \n", + " Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.\n", + " definition of HP:0011968 (Feeding difficulties)\n", + " \n", + " \n", + " #Feeding difficulties #Feeding problems #Poor feeding\n", + " definition of HP:0011968 (Feeding difficulties)\n", + " \n", + " \n", + " Neonatal alloimmune thrombocytopenia\n", + " definition of HP:0004809 (Neonatal alloimmune thrombocytopenia)\n", + " \n", + " \n", + " Low platelet count associated with maternal platelet-specific alloantibodies.\n", + " definition of HP:0004809 (Neonatal alloimmune thrombocytopenia)\n", + " \n", + " \n", + " Primum atrial septal defect\n", + " definition of HP:0010445 (Primum atrial septal defect)\n", + " \n", + " \n", + " An ostium primum atrial septal defect is located in the most anterior and inferior aspect of the atrial septum. The ostium primum refers to an anterior and inferior opening (ostium) within the septum primum, which divides the rudimentary atrium during fetal development. The ostium primum is normally sealed by fusion of the superior and inferior endocardial cushions around 5 weeks' gestation. Ostium primum defects result from a failure of the fusion of the embryologic endocardial cushion and septum primum.\n", + " definition of HP:0010445 (Primum atrial septal defect)\n", + " \n", + " \n", + " #Atrial septal defect, primum type #Ostium primum atrial septal defect #Primum atrioventricular canal defect #Septum primum defect\n", + " definition of HP:0010445 (Primum atrial septal defect)\n", + " \n", + " \n", + " Porencephalic cyst\n", + " definition of HP:0002132 (Porencephalic cyst)\n", + " \n", + " \n", + " A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system.\n", + " definition of HP:0002132 (Porencephalic cyst)\n", + " \n", + " \n", + " #Cavity within brain\n", + " definition of HP:0002132 (Porencephalic cyst)\n", + " \n", + " \n", + " Prominent palatine ridges\n", + " definition of HP:0010291 (Prominent palatine ridges)\n", + " \n", + " \n", + " Increased size and/or number of soft tissue folds on the palatal side of the maxillary alveolar ridge.\n", + " definition of HP:0010291 (Prominent palatine ridges)\n", + " \n", + " \n", + " #Large lateral palatal folds #Large lateral palatal ridges #Prominent lateral palatal folds #Prominent lateral palatal ridges #Prominent palatine folds\n", + " definition of HP:0010291 (Prominent palatine ridges)\n", + " \n", + " \n", + " Dysphagia\n", + " definition of HP:0002015 (Dysphagia)\n", + " \n", + " \n", + " Difficulty in swallowing.\n", + " definition of HP:0002015 (Dysphagia)\n", + " \n", + " \n", + " #Difficulty swallowing #Poor swallowing #Swallowing difficulties #Swallowing difficulty\n", + " definition of HP:0002015 (Dysphagia)\n", + " \n", + " \n", + " Dysfunctional alternative complement pathway\n", + " definition of HP:0005423 (Dysfunctional alternative complement pathway)\n", + " \n", + " \n", + " An abnormality of the functioning of any aspect of the alternative complement pathway.\n", + " definition of HP:0005423 (Dysfunctional alternative complement pathway)\n", + " \n", + " \n", + " Triangular epiphysis of the proximal phalanx of the 2nd finger\n", + " definition of HP:0009534 (Triangular epiphysis of the proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Triangular end part of innermost long bone of index finger #Triangular epiphysis of proximal index finger phalanx\n", + " definition of HP:0009534 (Triangular epiphysis of the proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Splenogonadal fusion\n", + " definition of HP:0025410 (Splenogonadal fusion)\n", + " \n", + " \n", + " Joining of the spleen and a gonad during embryological development.\n", + " definition of HP:0025410 (Splenogonadal fusion)\n", + " \n", + " \n", + " Monoclonal elevated circulating IgE concentration\n", + " definition of HP:0032337 (Monoclonal elevated circulating IgE concentration)\n", + " \n", + " \n", + " An increase in circulating IgE characterized by one predominant band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.\n", + " definition of HP:0032337 (Monoclonal elevated circulating IgE concentration)\n", + " \n", + " \n", + " #Monoclonal elevation of circulating IgE\n", + " definition of HP:0032337 (Monoclonal elevated circulating IgE concentration)\n", + " \n", + " \n", + " Open operculum\n", + " definition of HP:0100954 (Open operculum)\n", + " \n", + " \n", + " Underdevelopment of the operculum.\n", + " definition of HP:0100954 (Open operculum)\n", + " \n", + " \n", + " Abnormal olecranon morphology\n", + " definition of HP:0004032 (Abnormal olecranon morphology)\n", + " \n", + " \n", + " Any structural abnormality of the olecranon, a bony eminence of the proximal ulna.\n", + " definition of HP:0004032 (Abnormal olecranon morphology)\n", + " \n", + " \n", + " #Abnormality of the olecranon\n", + " definition of HP:0004032 (Abnormal olecranon morphology)\n", + " \n", + " \n", + " Severe varicella zoster infection\n", + " definition of HP:0032170 (Severe varicella zoster infection)\n", + " \n", + " \n", + " An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterized by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestations including VZV pneumonia, hepatitis, meningitis, and disseminated varicella.\n", + " definition of HP:0032170 (Severe varicella zoster infection)\n", + " \n", + " \n", + " Vaginal lymphocele\n", + " definition of HP:0100676 (Vaginal lymphocele)\n", + " \n", + " \n", + " Megakaryocyte dysplasia\n", + " definition of HP:0031689 (Megakaryocyte dysplasia)\n", + " \n", + " \n", + " The presence of micro-megakaryocytes, hypo-lobed, or non-lobed nuclei in megakaryocytes of all sizes and multiple, widely-separated nuclei.\n", + " definition of HP:0031689 (Megakaryocyte dysplasia)\n", + " \n", + " \n", + " #Dysmegakaryopoiesis\n", + " definition of HP:0031689 (Megakaryocyte dysplasia)\n", + " \n", + " \n", + " Nonspherocytic hemolytic anemia\n", + " definition of HP:0001930 (Nonspherocytic hemolytic anemia)\n", + " \n", + " \n", + " #Nonspherocytic hemolytic anaemia\n", + " definition of HP:0001930 (Nonspherocytic hemolytic anemia)\n", + " \n", + " \n", + " T-wave inversion\n", + " definition of HP:0010872 (T-wave inversion)\n", + " \n", + " \n", + " An inversion of the T-wave (which is normally positive).\n", + " definition of HP:0010872 (T-wave inversion)\n", + " \n", + " \n", + " #EKG: T-wave inversion\n", + " definition of HP:0010872 (T-wave inversion)\n", + " \n", + " \n", + " Aplasia of the proximal phalanx of the 3rd finger\n", + " definition of HP:0009458 (Aplasia of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Absence of the proximal phalanx of the 3rd finger.\n", + " definition of HP:0009458 (Aplasia of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Absent innermost bone of middle finger\n", + " definition of HP:0009458 (Aplasia of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Abnormality of the twelfth cranial nerve\n", + " definition of HP:0010826 (Abnormality of the twelfth cranial nerve)\n", + " \n", + " \n", + " Abnormality of the twelfth cranial nerve.\n", + " definition of HP:0010826 (Abnormality of the twelfth cranial nerve)\n", + " \n", + " \n", + " #Abnormality of cranial nerve 12 #Abnormality of cranial nerve xii #Abnormality of the hypoglossal nerve\n", + " definition of HP:0010826 (Abnormality of the twelfth cranial nerve)\n", + " \n", + " \n", + " Decreased activity of mitochondrial respiratory chain\n", + " definition of HP:0008972 (Decreased activity of mitochondrial respiratory chain)\n", + " \n", + " \n", + " Decreased activity of the mitochondrial respiratory chain.\n", + " definition of HP:0008972 (Decreased activity of mitochondrial respiratory chain)\n", + " \n", + " \n", + " Abnormal blood folate concentration\n", + " definition of HP:0040087 (Abnormal blood folate concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of folate in the blood circulation.\n", + " definition of HP:0040087 (Abnormal blood folate concentration)\n", + " \n", + " \n", + " #Abnormal serum folate #Abnormality of folate in blood\n", + " definition of HP:0040087 (Abnormal blood folate concentration)\n", + " \n", + " \n", + " Gallbladder mass\n", + " definition of HP:0034507 (Gallbladder mass)\n", + " \n", + " \n", + " An abnormal lesion or swelling seen on gallbladder imaging.\n", + " definition of HP:0034507 (Gallbladder mass)\n", + " \n", + " \n", + " Punding\n", + " definition of HP:0030218 (Punding)\n", + " \n", + " \n", + " Punding is a stereotypical motor behavior characterized by an intense fascination with repetitive, excessive and non-goal oriented handling, and examining of objects.\n", + " definition of HP:0030218 (Punding)\n", + " \n", + " \n", + " Upslanted palpebral fissure\n", + " definition of HP:0000582 (Upslanted palpebral fissure)\n", + " \n", + " \n", + " The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.\n", + " definition of HP:0000582 (Upslanted palpebral fissure)\n", + " \n", + " \n", + " #Mongoloid slant #Upslanting palpebral fissures #Upward slanted palpebral fissures #Upward slanting of palpebral fissures #Upward slanting of the opening between the eyelids #Upward slanting palpebral fissures\n", + " definition of HP:0000582 (Upslanted palpebral fissure)\n", + " \n", + " \n", + " Triggered by infection\n", + " definition of HP:0033184 (Triggered by infection)\n", + " \n", + " \n", + " Knee clonus\n", + " definition of HP:0011449 (Knee clonus)\n", + " \n", + " \n", + " Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Knee clonus can be tested by rapidly pushing the patella towards the toes.\n", + " definition of HP:0011449 (Knee clonus)\n", + " \n", + " \n", + " #Patellar clonus\n", + " definition of HP:0011449 (Knee clonus)\n", + " \n", + " \n", + " Autosomal dominant inheritance\n", + " definition of HP:0000006 (Autosomal dominant inheritance)\n", + " \n", + " \n", + " A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.\n", + " definition of HP:0000006 (Autosomal dominant inheritance)\n", + " \n", + " \n", + " #Autosomal dominant #monoallelic_autosomal\n", + " definition of HP:0000006 (Autosomal dominant inheritance)\n", + " \n", + " \n", + " Anisometropia\n", + " definition of HP:0012803 (Anisometropia)\n", + " \n", + " \n", + " Inequality of refractive power of the two eyes.\n", + " definition of HP:0012803 (Anisometropia)\n", + " \n", + " \n", + " Atypical pulmonary carcinoid tumor\n", + " definition of HP:0030446 (Atypical pulmonary carcinoid tumor)\n", + " \n", + " \n", + " #Atypical pulmonary carcinoid tumour\n", + " definition of HP:0030446 (Atypical pulmonary carcinoid tumor)\n", + " \n", + " \n", + " Asymmetry of the shape of the ears\n", + " definition of HP:0040092 (Asymmetry of the shape of the ears)\n", + " \n", + " \n", + " #Asymmetry of the shape of the ears\n", + " definition of HP:0040092 (Asymmetry of the shape of the ears)\n", + " \n", + " \n", + " Paralysis\n", + " definition of HP:0003470 (Paralysis)\n", + " \n", + " \n", + " Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement.\n", + " definition of HP:0003470 (Paralysis)\n", + " \n", + " \n", + " #Inability to move #Paralysis\n", + " definition of HP:0003470 (Paralysis)\n", + " \n", + " \n", + " Abnormality of hair growth rate\n", + " definition of HP:0011363 (Abnormality of hair growth rate)\n", + " \n", + " \n", + " Hair whose growth rate deviates from the norm.\n", + " definition of HP:0011363 (Abnormality of hair growth rate)\n", + " \n", + " \n", + " #Abnormality of hair growth rate #Abnormality of pace of hair growth #Abnormality of speed of hair growth\n", + " definition of HP:0011363 (Abnormality of hair growth rate)\n", + " \n", + " \n", + " Intrahepatic biliary dysgenesis\n", + " definition of HP:0001401 (Intrahepatic biliary dysgenesis)\n", + " \n", + " \n", + " Nephrogenic rest\n", + " definition of HP:0100880 (Nephrogenic rest)\n", + " \n", + " \n", + " Abnormally persistent clusters of embryonal cells, representing microscopic malformations (dysplasias) of the developing kidney.\n", + " definition of HP:0100880 (Nephrogenic rest)\n", + " \n", + " \n", + " Contracture of the distal interphalangeal joint of the fingers\n", + " definition of HP:0009697 (Contracture of the distal interphalangeal joint of the fingers)\n", + " \n", + " \n", + " Chronic loss of joint motion in one or more distal interphalangeal joints of the fingers.\n", + " definition of HP:0009697 (Contracture of the distal interphalangeal joint of the fingers)\n", + " \n", + " \n", + " Episodic metabolic acidosis\n", + " definition of HP:0004911 (Episodic metabolic acidosis)\n", + " \n", + " \n", + " Repeated transient episodes of metabolic acidosis, that is, of the buildup of acid or depletion of base due to accumulation of metabolic acids.\n", + " definition of HP:0004911 (Episodic metabolic acidosis)\n", + " \n", + " \n", + " #Recurrent episodes of acidosis\n", + " definition of HP:0004911 (Episodic metabolic acidosis)\n", + " \n", + " \n", + " Very long chain fatty acid accumulation\n", + " definition of HP:0008167 (Very long chain fatty acid accumulation)\n", + " \n", + " \n", + " Myoclonus\n", + " definition of HP:0001336 (Myoclonus)\n", + " \n", + " \n", + " Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.\n", + " definition of HP:0001336 (Myoclonus)\n", + " \n", + " \n", + " #Myoclonic jerks\n", + " definition of HP:0001336 (Myoclonus)\n", + " \n", + " \n", + " Heavy-chain paraproteinemia\n", + " definition of HP:0031049 (Heavy-chain paraproteinemia)\n", + " \n", + " \n", + " An abnormal immunoglobulin heavy chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells.\n", + " definition of HP:0031049 (Heavy-chain paraproteinemia)\n", + " \n", + " \n", + " Lymphoid cholangitis\n", + " definition of HP:0030989 (Lymphoid cholangitis)\n", + " \n", + " \n", + " Cholangitis characterized by a close association between duct branches, usually interlobular bile ducts, and lymphocytic aggregates, which may show a follicular arrangement.\n", + " definition of HP:0030989 (Lymphoid cholangitis)\n", + " \n", + " \n", + " Anticardiolipin IgG antibody positivity\n", + " definition of HP:0020136 (Anticardiolipin IgG antibody positivity)\n", + " \n", + " \n", + " The presence of circulating IgG autoantibodies to cardiolipin.\n", + " definition of HP:0020136 (Anticardiolipin IgG antibody positivity)\n", + " \n", + " \n", + " Trichoepithelioma\n", + " definition of HP:0025367 (Trichoepithelioma)\n", + " \n", + " \n", + " A benign hair follicle tumor whose tumor cells form rudimentary hair follicles but not actual hair shafts. A trichoepithelioma is usually less than one centimeter, firm, round, and shihy with yellow, pink, brown, or bluish color. They may occur multiply, usually on the face, and may gradually increase in number with age.\n", + " definition of HP:0025367 (Trichoepithelioma)\n", + " \n", + " \n", + " Abnormal hemoglobin concentration\n", + " definition of HP:0020061 (Abnormal hemoglobin concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of hemoglobin in the blood.\n", + " definition of HP:0020061 (Abnormal hemoglobin concentration)\n", + " \n", + " \n", + " #Abnormal haemoglobin concentration #Abnormal Hb concentration\n", + " definition of HP:0020061 (Abnormal hemoglobin concentration)\n", + " \n", + " \n", + " Delta brush pattern on EEG\n", + " definition of HP:6001051 (Delta brush pattern on EEG)\n", + " \n", + " \n", + " Delta brushes are transient patterns characterised by a slow delta wave with superimposed fast activity.\n", + " definition of HP:6001051 (Delta brush pattern on EEG)\n", + " \n", + " \n", + " Opportunistic bacterial infection\n", + " definition of HP:0032260 (Opportunistic bacterial infection)\n", + " \n", + " \n", + " An infection that is caused by a bacterium that would generally not be able to cause an infection in a host with a normal immune system. Such bacteria take advantage of the opportunity, so to speak, that is provided by a weakened immune system.\n", + " definition of HP:0032260 (Opportunistic bacterial infection)\n", + " \n", + " \n", + " 2-hydroxyglutarate aciduria\n", + " definition of HP:0032278 (2-hydroxyglutarate aciduria)\n", + " \n", + " \n", + " The concentration of 2-hydroxyglutaric acid in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:0032278 (2-hydroxyglutarate aciduria)\n", + " \n", + " \n", + " Increased airway neuroepithelial bodies\n", + " definition of HP:0033378 (Increased airway neuroepithelial bodies)\n", + " \n", + " \n", + " Presence of increased numbers of bombesin-immuno-positive neuroendocrine cell cluster (neuroepithelial bodies) in the alveolar ducts.\n", + " definition of HP:0033378 (Increased airway neuroepithelial bodies)\n", + " \n", + " \n", + " Vestibular areflexia\n", + " definition of HP:0008568 (Vestibular areflexia)\n", + " \n", + " \n", + " Vestibular areflexia can be measured as the absence of the caloric nystagmus response in electronystagmography.\n", + " definition of HP:0008568 (Vestibular areflexia)\n", + " \n", + " \n", + " Neonatal hypoglycemia\n", + " definition of HP:0001998 (Neonatal hypoglycemia)\n", + " \n", + " \n", + " #Low blood sugar in newborn\n", + " definition of HP:0001998 (Neonatal hypoglycemia)\n", + " \n", + " \n", + " Abnormality of the extraocular muscles\n", + " definition of HP:0008049 (Abnormality of the extraocular muscles)\n", + " \n", + " \n", + " An abnormality of an extraocular muscle.\n", + " definition of HP:0008049 (Abnormality of the extraocular muscles)\n", + " \n", + " \n", + " Atrial reentry tachycardia\n", + " definition of HP:0011699 (Atrial reentry tachycardia)\n", + " \n", + " \n", + " Urinary bladder wall hypertrophy\n", + " definition of HP:0008635 (Urinary bladder wall hypertrophy)\n", + " \n", + " \n", + " Increase in thickness of the wall of the urinary bladder. This finding may be seen in conditions such as bladder outlet obstruction and may be accompanied by increased trabeculation of the bladder wall musculature.\n", + " definition of HP:0008635 (Urinary bladder wall hypertrophy)\n", + " \n", + " \n", + " #Hypertrophic urinary bladder #Hypertrophy of the urinary bladder wall #Urinary bladder wall thickening\n", + " definition of HP:0008635 (Urinary bladder wall hypertrophy)\n", + " \n", + " \n", + " Dolichocephaly\n", + " definition of HP:0000268 (Dolichocephaly)\n", + " \n", + " \n", + " An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.\n", + " definition of HP:0000268 (Dolichocephaly)\n", + " \n", + " \n", + " #Long, narrow head #Tall and narrow skull\n", + " definition of HP:0000268 (Dolichocephaly)\n", + " \n", + " \n", + " Widened distal phalanges\n", + " definition of HP:0006200 (Widened distal phalanges)\n", + " \n", + " \n", + " #Widened outermost bone of limb\n", + " definition of HP:0006200 (Widened distal phalanges)\n", + " \n", + " \n", + " Bloodstream microfilaria\n", + " definition of HP:0034639 (Bloodstream microfilaria)\n", + " \n", + " \n", + " Presence of filaria in the blood stream. Filariasis is a common cause of elephantiasis in Coastal Districts of India. The initial manifestations are repeated episodes of fever with chills and rigor, lymphadenopathy which gradually progress to elephantiasis. In India filarial infestation is commonly caused by W. bancrofti and Brugia malayi, the former responsible for almost 98 percent of all cases.\n", + " definition of HP:0034639 (Bloodstream microfilaria)\n", + " \n", + " \n", + " Curved distal phalanx of the hallux\n", + " definition of HP:0010079 (Curved distal phalanx of the hallux)\n", + " \n", + " \n", + " A deviation from the normal straight form of the distal phalanx of the big toe.\n", + " definition of HP:0010079 (Curved distal phalanx of the hallux)\n", + " \n", + " \n", + " #Curved outermost bone of big toe\n", + " definition of HP:0010079 (Curved distal phalanx of the hallux)\n", + " \n", + " \n", + " Hypoplastic aortic arch\n", + " definition of HP:0012304 (Hypoplastic aortic arch)\n", + " \n", + " \n", + " Underdevelopment of the arch of aorta.\n", + " definition of HP:0012304 (Hypoplastic aortic arch)\n", + " \n", + " \n", + " #Aortic arch hypoplasia #Underdeveloped aortic arch\n", + " definition of HP:0012304 (Hypoplastic aortic arch)\n", + " \n", + " \n", + " Midnasal stenosis\n", + " definition of HP:0010644 (Midnasal stenosis)\n", + " \n", + " \n", + " Abnormal narrowing (stenosis) of the midnasal cavity, i.e., of the middle nasal meatus, which in neonates can cause respiratory distress.\n", + " definition of HP:0010644 (Midnasal stenosis)\n", + " \n", + " \n", + " #Midnasal atresia or stenosis\n", + " definition of HP:0010644 (Midnasal stenosis)\n", + " \n", + " \n", + " Reduced cerebral white matter volume\n", + " definition of HP:0034295 (Reduced cerebral white matter volume)\n", + " \n", + " \n", + " An abnormally low volume of the white matter of the brain.\n", + " definition of HP:0034295 (Reduced cerebral white matter volume)\n", + " \n", + " \n", + " Elevated circulating creatinine concentration\n", + " definition of HP:0003259 (Elevated circulating creatinine concentration)\n", + " \n", + " \n", + " An increased amount of creatinine in the blood.\n", + " definition of HP:0003259 (Elevated circulating creatinine concentration)\n", + " \n", + " \n", + " #Elevated creatinine #Elevated serum creatinine #High blood creatinine level #Increased creatinine #Increased serum creatinine\n", + " definition of HP:0003259 (Elevated circulating creatinine concentration)\n", + " \n", + " \n", + " Fracture blister\n", + " definition of HP:0034366 (Fracture blister)\n", + " \n", + " \n", + " Fracture blister is a type of blister that forms following acute bone fractures, typically near the ankle, wrist elbow or foot, where skin adheres tightly to bone with little subcutaneous fat cushioning. The blister that results resembles that of a second degree burn.\n", + " definition of HP:0034366 (Fracture blister)\n", + " \n", + " \n", + " Decreased need for sleep\n", + " definition of HP:5200276 (Decreased need for sleep)\n", + " \n", + " \n", + " There has been a noticeable decrease in the need for sleep, where individuals feel refreshed even with minimal or no sleep.\n", + " definition of HP:5200276 (Decreased need for sleep)\n", + " \n", + " \n", + " Aplasia/Hypoplasia involving the pelvis\n", + " definition of HP:0009103 (Aplasia/Hypoplasia involving the pelvis)\n", + " \n", + " \n", + " #Absent/small pelvis #Absent/underdeveloped pelvis\n", + " definition of HP:0009103 (Aplasia/Hypoplasia involving the pelvis)\n", + " \n", + " \n", + " Supernumerary pulmonary fissure\n", + " definition of HP:0032994 (Supernumerary pulmonary fissure)\n", + " \n", + " \n", + " Presence of a lung fissure that does not exist normally. Supernumerary fissures include the superior accessory fissure, the medial basal fissure, the left horizontal fissure, and the azygos fissure form supernumerary lobes.\n", + " definition of HP:0032994 (Supernumerary pulmonary fissure)\n", + " \n", + " \n", + " #increased pulmonary fissure count\n", + " definition of HP:0032994 (Supernumerary pulmonary fissure)\n", + " \n", + " \n", + " Decreased glucose-6-phosphate dehydrogenase level in dried blood spot\n", + " definition of HP:0410182 (Decreased glucose-6-phosphate dehydrogenase level in dried blood spot)\n", + " \n", + " \n", + " A decrease in the level of glucose-6-phosphate dehydrogenase in a dried blood spot.\n", + " definition of HP:0410182 (Decreased glucose-6-phosphate dehydrogenase level in dried blood spot)\n", + " \n", + " \n", + " #Decreased G6PD level in dried blood spot #Decreased glucose-6-phosphate dehydrogenase level in DBS\n", + " definition of HP:0410182 (Decreased glucose-6-phosphate dehydrogenase level in dried blood spot)\n", + " \n", + " \n", + " Comedo\n", + " definition of HP:0025249 (Comedo)\n", + " \n", + " \n", + " A clogged cutaneous sebaceous follicle, which is a cutaneous gland that secretes sebum (usually into a hair follicle).\n", + " definition of HP:0025249 (Comedo)\n", + " \n", + " \n", + " Starch intolerance\n", + " definition of HP:0041049 (Starch intolerance)\n", + " \n", + " \n", + " An inability to digest starch.\n", + " definition of HP:0041049 (Starch intolerance)\n", + " \n", + " \n", + " #Amylose-amylopectin intolerance #Starch intolerance\n", + " definition of HP:0041049 (Starch intolerance)\n", + " \n", + " \n", + " D-2-hydroxyglutaric aciduria\n", + " definition of HP:0012321 (D-2-hydroxyglutaric aciduria)\n", + " \n", + " \n", + " An increased concentration of 2-hydroxyglutaric acid in the urine.\n", + " definition of HP:0012321 (D-2-hydroxyglutaric aciduria)\n", + " \n", + " \n", + " Exacerbation of eyelid lesion by crying\n", + " definition of HP:6000058 (Exacerbation of eyelid lesion by crying)\n", + " \n", + " \n", + " Applies to an eyelid lesion such as hemangiomas or varices that swells upon crying.\n", + " definition of HP:6000058 (Exacerbation of eyelid lesion by crying)\n", + " \n", + " \n", + " Multiple enchondromatosis\n", + " definition of HP:0005701 (Multiple enchondromatosis)\n", + " \n", + " \n", + " Hepatic necrosis\n", + " definition of HP:0002605 (Hepatic necrosis)\n", + " \n", + " \n", + " The presence of cell death (necrosis) affecting the liver.\n", + " definition of HP:0002605 (Hepatic necrosis)\n", + " \n", + " \n", + " Cogwheel rigidity\n", + " definition of HP:0002396 (Cogwheel rigidity)\n", + " \n", + " \n", + " A type of rigidity in which a muscle responds with cogwheellike jerks to the use of constant force in bending the limb (i.e., it gives way in little, repeated jerks when the muscle is passively stretched).\n", + " definition of HP:0002396 (Cogwheel rigidity)\n", + " \n", + " \n", + " Abnormal perceptual state\n", + " definition of HP:5200216 (Abnormal perceptual state)\n", + " \n", + " \n", + " Temporary alteration of the awareness of reality or self-perception.\n", + " definition of HP:5200216 (Abnormal perceptual state)\n", + " \n", + " \n", + " Decreased urine bicarbonate concentration\n", + " definition of HP:0045011 (Decreased urine bicarbonate concentration)\n", + " \n", + " \n", + " Abnormally decreased concentration of hydrogencarbonate in the urine.\n", + " definition of HP:0045011 (Decreased urine bicarbonate concentration)\n", + " \n", + " \n", + " #Decreased urine HCO3 concentration\n", + " definition of HP:0045011 (Decreased urine bicarbonate concentration)\n", + " \n", + " \n", + " Vertical forehead creases\n", + " definition of HP:0011221 (Vertical forehead creases)\n", + " \n", + " \n", + " Vertical soft tissue creases in the midline of the forehead, often extending from the hairline to the brow, and seen with facial expression or when the face is at rest.\n", + " definition of HP:0011221 (Vertical forehead creases)\n", + " \n", + " \n", + " #Frontal creases of face #Vertical forehead creases #Vertical forehead rhytids #Vertical forehead wrinkles\n", + " definition of HP:0011221 (Vertical forehead creases)\n", + " \n", + " \n", + " Agenesis of maxillary premolar\n", + " definition of HP:0011052 (Agenesis of maxillary premolar)\n", + " \n", + " \n", + " Agenesis of maxillary premolar.\n", + " definition of HP:0011052 (Agenesis of maxillary premolar)\n", + " \n", + " \n", + " #Agenesis of maxillary bicuspid #Failure of development of maxillary bicuspid #Failure of development of maxillary premolar\n", + " definition of HP:0011052 (Agenesis of maxillary premolar)\n", + " \n", + " \n", + " Knee pain\n", + " definition of HP:0030839 (Knee pain)\n", + " \n", + " \n", + " An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee.\n", + " definition of HP:0030839 (Knee pain)\n", + " \n", + " \n", + " #Knee pain\n", + " definition of HP:0030839 (Knee pain)\n", + " \n", + " \n", + " Bilateral ptosis\n", + " definition of HP:0001488 (Bilateral ptosis)\n", + " \n", + " \n", + " #Drooping of both upper eyelids\n", + " definition of HP:0001488 (Bilateral ptosis)\n", + " \n", + " \n", + " Acute demyelinating polyneuropathy\n", + " definition of HP:0007131 (Acute demyelinating polyneuropathy)\n", + " \n", + " \n", + " Acute progressive areflexic weakness and mild sensory changes resulting from myelin breakdown and axonal degeneration.\n", + " definition of HP:0007131 (Acute demyelinating polyneuropathy)\n", + " \n", + " \n", + " Elevated circulating succinate\n", + " definition of HP:0020149 (Elevated circulating succinate)\n", + " \n", + " \n", + " An increase concentration of succinate in the blood circulation.\n", + " definition of HP:0020149 (Elevated circulating succinate)\n", + " \n", + " \n", + " Fetal distress\n", + " definition of HP:0025116 (Fetal distress)\n", + " \n", + " \n", + " An intrauterine state characterized by suboptimal values in the fetal heart rate, oxygenation of fetal blood, or other parameters indicative of compromise of the fetus. Signs of fetal distress include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile.\n", + " definition of HP:0025116 (Fetal distress)\n", + " \n", + " \n", + " #Foetal distress\n", + " definition of HP:0025116 (Fetal distress)\n", + " \n", + " \n", + " Scapular muscle atrophy\n", + " definition of HP:0009060 (Scapular muscle atrophy)\n", + " \n", + " \n", + " Atrophy of the muscles that are responsible for moving the scapula, which are the levator scapulae, the infraspinatus muscle, the teres major, the teres minor, and the supraspinatus muscle.\n", + " definition of HP:0009060 (Scapular muscle atrophy)\n", + " \n", + " \n", + " Punctate opacification of the cornea\n", + " definition of HP:0007856 (Punctate opacification of the cornea)\n", + " \n", + " \n", + " Punctate opacification (reduced transparency) of the corneal stroma.\n", + " definition of HP:0007856 (Punctate opacification of the cornea)\n", + " \n", + " \n", + " #Punctate corneal opacities\n", + " definition of HP:0007856 (Punctate opacification of the cornea)\n", + " \n", + " \n", + " Maxillary lateral incisor microdontia\n", + " definition of HP:0001593 (Maxillary lateral incisor microdontia)\n", + " \n", + " \n", + " Decreased size of the maxillary permanent incisor.\n", + " definition of HP:0001593 (Maxillary lateral incisor microdontia)\n", + " \n", + " \n", + " #Decreased width of upper lateral incisor\n", + " definition of HP:0001593 (Maxillary lateral incisor microdontia)\n", + " \n", + " \n", + " Purpura\n", + " definition of HP:0000979 (Purpura)\n", + " \n", + " \n", + " Purpura (from Latin: purpura, meaning purple) is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae.\n", + " definition of HP:0000979 (Purpura)\n", + " \n", + " \n", + " #Red or purple spots on the skin\n", + " definition of HP:0000979 (Purpura)\n", + " \n", + " \n", + " Neoplasm of the posterior pituitary\n", + " definition of HP:0011752 (Neoplasm of the posterior pituitary)\n", + " \n", + " \n", + " The presence of a neoplasm (tumor) in the neurohypophysis, which is also known as the posterior lobe of the hypophysis.\n", + " definition of HP:0011752 (Neoplasm of the posterior pituitary)\n", + " \n", + " \n", + " #Neoplasm of the neurohypophysis\n", + " definition of HP:0011752 (Neoplasm of the posterior pituitary)\n", + " \n", + " \n", + " Comminuted fracture\n", + " definition of HP:4000048 (Comminuted fracture)\n", + " \n", + " \n", + " A type of fracture in which the break is in three or more pieces and fragments are present at the fracture site.\n", + " definition of HP:4000048 (Comminuted fracture)\n", + " \n", + " \n", + " Impaired ability to bathe oneself\n", + " definition of HP:0031059 (Impaired ability to bathe oneself)\n", + " \n", + " \n", + " This term applies to an individual who requires help to bathe more than one part of the body, get in or out of the tub or shower, or who requires total bathing.\n", + " definition of HP:0031059 (Impaired ability to bathe oneself)\n", + " \n", + " \n", + " Elevated urine 4-methyl-2-oxopentanoic acid level\n", + " definition of HP:0033458 (Elevated urine 4-methyl-2-oxopentanoic acid level)\n", + " \n", + " \n", + " Increased amount of 4-methyl-2-oxopentanoic acid in the urine.\n", + " definition of HP:0033458 (Elevated urine 4-methyl-2-oxopentanoic acid level)\n", + " \n", + " \n", + " #Increased urine alpha-ketoisocaproic acid level\n", + " definition of HP:0033458 (Elevated urine 4-methyl-2-oxopentanoic acid level)\n", + " \n", + " \n", + " 1-minute APGAR score of 6\n", + " definition of HP:0030933 (1-minute APGAR score of 6)\n", + " \n", + " \n", + " Periumbilical depression\n", + " definition of HP:6000808 (Periumbilical depression)\n", + " \n", + " \n", + " The tissue that immediately surrounds the umbilicus is located below the normal plane of the abdomen.\n", + " definition of HP:6000808 (Periumbilical depression)\n", + " \n", + " \n", + " Abnormal third ventricle morphology\n", + " definition of HP:0010951 (Abnormal third ventricle morphology)\n", + " \n", + " \n", + " An abnormality of the third ventricle.\n", + " definition of HP:0010951 (Abnormal third ventricle morphology)\n", + " \n", + " \n", + " #Abnormality of the third ventricle\n", + " definition of HP:0010951 (Abnormal third ventricle morphology)\n", + " \n", + " \n", + " Idiosyncratic use of words\n", + " definition of HP:0025774 (Idiosyncratic use of words)\n", + " \n", + " \n", + " Words or phrases and their expression that are used in a manner that is not consistent with the current and accepted meaning for the context and social circumstance. This does not apply to peer or culture driven novel uses of words that are accepted within the given social circles.\n", + " definition of HP:0025774 (Idiosyncratic use of words)\n", + " \n", + " \n", + " #Ascribing novel meanings to words\n", + " definition of HP:0025774 (Idiosyncratic use of words)\n", + " \n", + " \n", + " Hemiparesis\n", + " definition of HP:0001269 (Hemiparesis)\n", + " \n", + " \n", + " Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength.\n", + " definition of HP:0001269 (Hemiparesis)\n", + " \n", + " \n", + " #Weakness of one side of body\n", + " definition of HP:0001269 (Hemiparesis)\n", + " \n", + " \n", + " Focal aware emotional seizure with pleasure\n", + " definition of HP:0032742 (Focal aware emotional seizure with pleasure)\n", + " \n", + " \n", + " Focal emotional seizure with pleasure in which awareness is retained throughout.\n", + " definition of HP:0032742 (Focal aware emotional seizure with pleasure)\n", + " \n", + " \n", + " Posttussive emesis\n", + " definition of HP:0034783 (Posttussive emesis)\n", + " \n", + " \n", + " Vomiting following a coughing spell.\n", + " definition of HP:0034783 (Posttussive emesis)\n", + " \n", + " \n", + " Scrotal hypospadias\n", + " definition of HP:0012853 (Scrotal hypospadias)\n", + " \n", + " \n", + " Hypospadias with location of the urethral meatus in the scrotum.\n", + " definition of HP:0012853 (Scrotal hypospadias)\n", + " \n", + " \n", + " Fibrotic non-specific interstitial pneumonia\n", + " definition of HP:0033585 (Fibrotic non-specific interstitial pneumonia)\n", + " \n", + " \n", + " A type of non-specific interstitial pneumonia in which interstitial thickening is due to uniform dense or loose fibrosis and mild chronic inflammation.\n", + " definition of HP:0033585 (Fibrotic non-specific interstitial pneumonia)\n", + " \n", + " \n", + " Gangliocytoma\n", + " definition of HP:0034952 (Gangliocytoma)\n", + " \n", + " \n", + " A low-grade central nervous system tumor composed of dysplastic ganglion cells, usually presenting in children or young adults and located in the cerebral hemispheres.\n", + " definition of HP:0034952 (Gangliocytoma)\n", + " \n", + " \n", + " Glomerular lipoprotein thrombus\n", + " definition of HP:0033294 (Glomerular lipoprotein thrombus)\n", + " \n", + " \n", + " Intracapillary silver-positive material that is finely vacuolated and laminated, and stains with oil red O on frozen sections.\n", + " definition of HP:0033294 (Glomerular lipoprotein thrombus)\n", + " \n", + " \n", + " Dystrophic fingernails\n", + " definition of HP:0008391 (Dystrophic fingernails)\n", + " \n", + " \n", + " The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate.\n", + " definition of HP:0008391 (Dystrophic fingernails)\n", + " \n", + " \n", + " #Poor fingernail formation\n", + " definition of HP:0008391 (Dystrophic fingernails)\n", + " \n", + " \n", + " Conjugated hyperbilirubinemia\n", + " definition of HP:0002908 (Conjugated hyperbilirubinemia)\n", + " \n", + " \n", + " #Direct hyperbilirubinemia\n", + " definition of HP:0002908 (Conjugated hyperbilirubinemia)\n", + " \n", + " \n", + " Asymmetry of the ears\n", + " definition of HP:0010722 (Asymmetry of the ears)\n", + " \n", + " \n", + " An asymmetriy, i.e., difference in size, shape or position between the left and right ear.\n", + " definition of HP:0010722 (Asymmetry of the ears)\n", + " \n", + " \n", + " #Asymmetric ears\n", + " definition of HP:0010722 (Asymmetry of the ears)\n", + " \n", + " \n", + " Gadolinium exposure\n", + " definition of HP:0034780 (Gadolinium exposure)\n", + " \n", + " \n", + " History of exposure to gadolinium, a contrast medium often used for magnetic resonance imaging.\n", + " definition of HP:0034780 (Gadolinium exposure)\n", + " \n", + " \n", + " Aorto-ventricular tunnel\n", + " definition of HP:0011627 (Aorto-ventricular tunnel)\n", + " \n", + " \n", + " Aorto-ventricular tunnel is a congenital, extracardiac channel which connects the ascending aorta above the sinotubular junction to the cavity of the left, or (less commonly) right ventricle.\n", + " definition of HP:0011627 (Aorto-ventricular tunnel)\n", + " \n", + " \n", + " Metaphyseal irregularity\n", + " definition of HP:0003025 (Metaphyseal irregularity)\n", + " \n", + " \n", + " Irregularity of the normally smooth surface of the metaphyses.\n", + " definition of HP:0003025 (Metaphyseal irregularity)\n", + " \n", + " \n", + " #Frayed, irregular metaphyses #Frayed, irregular, metaphyses #Irregular metaphyses #Irregular wide portion of a long bone #Metaphyseal fraying #Metaphyseal irregularities\n", + " definition of HP:0003025 (Metaphyseal irregularity)\n", + " \n", + " \n", + " Recurrent deep vein thrombosis\n", + " definition of HP:0004850 (Recurrent deep vein thrombosis)\n", + " \n", + " \n", + " Repeated episodes of the formation of a blot clot in a deep vein.\n", + " definition of HP:0004850 (Recurrent deep vein thrombosis)\n", + " \n", + " \n", + " #Recurrent deep vein blood clot #Recurrent venous thrombosis\n", + " definition of HP:0004850 (Recurrent deep vein thrombosis)\n", + " \n", + " \n", + " Cortical peritubular capillary lumen organized thrombi\n", + " definition of HP:0033874 (Cortical peritubular capillary lumen organized thrombi)\n", + " \n", + " \n", + " Thrombi containing fibrous tissue and capillary-like vascular channels located within the lumen of the peritubular capillaries of the cortex of the kidney.\n", + " definition of HP:0033874 (Cortical peritubular capillary lumen organized thrombi)\n", + " \n", + " \n", + " Second degree atrioventricular block\n", + " definition of HP:0011706 (Second degree atrioventricular block)\n", + " \n", + " \n", + " An intermittent atrioventricular block with failure of some atrial impulses to conduct to the ventricles, i.e., some but not all atrial impulses are conducted through the atrioventricular node and trigger ventricular contraction.\n", + " definition of HP:0011706 (Second degree atrioventricular block)\n", + " \n", + " \n", + " Anti-integrin antibody positivity\n", + " definition of HP:4000025 (Anti-integrin antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against an integrin. Integrins are a family of cell adhesion molecules with 24 known integrin heterodimers. Integrins transduce mechanical and biochemical signals from fibrotic extracellular matrix into the cell, activate latent TGFbeta, and subsequently modulate fibroblast adhesion, migration, and growth.\n", + " definition of HP:4000025 (Anti-integrin antibody positivity)\n", + " \n", + " \n", + " Pseudocoarctation of the aorta\n", + " definition of HP:0005295 (Pseudocoarctation of the aorta)\n", + " \n", + " \n", + " Pseudocoarctation is a congenital anomaly of kinking, or buckling, of the aorta without a pressure gradient across the lesion. It is characterized by elongation and kinking of the aorta at the level of the ligamentum arteriosum.\n", + " definition of HP:0005295 (Pseudocoarctation of the aorta)\n", + " \n", + " \n", + " Flexion limitation of toes\n", + " definition of HP:0008116 (Flexion limitation of toes)\n", + " \n", + " \n", + " Limitation of the ability to bend the toes.\n", + " definition of HP:0008116 (Flexion limitation of toes)\n", + " \n", + " \n", + " Position\n", + " definition of HP:0012830 (Position)\n", + " \n", + " \n", + " The anatomical localization of the specified phenotypic abnormality.\n", + " definition of HP:0012830 (Position)\n", + " \n", + " \n", + " Increased glucagon level\n", + " definition of HP:0030688 (Increased glucagon level)\n", + " \n", + " \n", + " An elevated concentration of glucagon in the blood circulation.\n", + " definition of HP:0030688 (Increased glucagon level)\n", + " \n", + " \n", + " Asteroid hyalosis\n", + " definition of HP:0030672 (Asteroid hyalosis)\n", + " \n", + " \n", + " The presence of small, white vitreous opacities consisting of calcium phosphate and complex, layered lipid deposits.\n", + " definition of HP:0030672 (Asteroid hyalosis)\n", + " \n", + " \n", + " Unusual gastrointestinal infection\n", + " definition of HP:0032166 (Unusual gastrointestinal infection)\n", + " \n", + " \n", + " #Unusual GI infection\n", + " definition of HP:0032166 (Unusual gastrointestinal infection)\n", + " \n", + " \n", + " Delayed spoken language comprehension\n", + " definition of HP:5200240 (Delayed spoken language comprehension)\n", + " \n", + " \n", + " #Delayed verbal comprehension\n", + " definition of HP:5200240 (Delayed spoken language comprehension)\n", + " \n", + " \n", + " Macrocytic dyserythropoietic anemia\n", + " definition of HP:0005532 (Macrocytic dyserythropoietic anemia)\n", + " \n", + " \n", + " #Macrocytic dyserythropoietic anaemia\n", + " definition of HP:0005532 (Macrocytic dyserythropoietic anemia)\n", + " \n", + " \n", + " Restlessness\n", + " definition of HP:0000711 (Restlessness)\n", + " \n", + " \n", + " A state of unease is characterized by diffuse motor activity or motion, which is subject to limited control, nonproductive, or disorganized behavior.\n", + " definition of HP:0000711 (Restlessness)\n", + " \n", + " \n", + " #Fidgetiness #Restiveness\n", + " definition of HP:0000711 (Restlessness)\n", + " \n", + " \n", + " Decreased circulating free T4 concentration\n", + " definition of HP:0033078 (Decreased circulating free T4 concentration)\n", + " \n", + " \n", + " A reduced concentration of free thyroxine (fT4) in the blood circulation.\n", + " definition of HP:0033078 (Decreased circulating free T4 concentration)\n", + " \n", + " \n", + " #Decreased circulating free T4 level\n", + " definition of HP:0033078 (Decreased circulating free T4 concentration)\n", + " \n", + " \n", + " Transient decreased circulating IgG3\n", + " definition of HP:0041071 (Transient decreased circulating IgG3)\n", + " \n", + " \n", + " A temporary reduction beneath the normal level of total immunoglobulin G3 (IgG3) in the blood circulation.\n", + " definition of HP:0041071 (Transient decreased circulating IgG3)\n", + " \n", + " \n", + " #Transient decreased IgG3 in blood\n", + " definition of HP:0041071 (Transient decreased circulating IgG3)\n", + " \n", + " \n", + " Hepatic hemophagocytosis\n", + " definition of HP:0034797 (Hepatic hemophagocytosis)\n", + " \n", + " \n", + " Phagocytosis of erythrocytes, lymphocytes or other hematopoietic precursors by histiocytes or macrophages observed in the liver.\n", + " definition of HP:0034797 (Hepatic hemophagocytosis)\n", + " \n", + " \n", + " Abnormal circulating glutamate concentration\n", + " definition of HP:0500148 (Abnormal circulating glutamate concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of glutamate in the blood circulation.\n", + " definition of HP:0500148 (Abnormal circulating glutamate concentration)\n", + " \n", + " \n", + " #Abnormality of glutamate metabolism\n", + " definition of HP:0500148 (Abnormal circulating glutamate concentration)\n", + " \n", + " \n", + " Limbal stem cell deficiency\n", + " definition of HP:0032107 (Limbal stem cell deficiency)\n", + " \n", + " \n", + " A condition characterized by a loss or deficiency of the stem cells in the limbus that are vital for re-population of the corneal epithelium and to the barrier function of the limbus.\n", + " definition of HP:0032107 (Limbal stem cell deficiency)\n", + " \n", + " \n", + " Short nasal septum\n", + " definition of HP:0000420 (Short nasal septum)\n", + " \n", + " \n", + " Reduced superior to inferior length of the nasal septum.\n", + " definition of HP:0000420 (Short nasal septum)\n", + " \n", + " \n", + " #Decreased length of nasal septum #Decreased length of septum of nose #Short nasal septum #Short septum of nose\n", + " definition of HP:0000420 (Short nasal septum)\n", + " \n", + " \n", + " Alveolar ridge overgrowth\n", + " definition of HP:0009085 (Alveolar ridge overgrowth)\n", + " \n", + " \n", + " Increased width of the alveolar ridges.\n", + " definition of HP:0009085 (Alveolar ridge overgrowth)\n", + " \n", + " \n", + " #Alveolar ridge excess #Enlarged alveolar ridge #Hyperplasia of alveolar process of jaw #Hyperplasia of alveolar ridge #Increased size of alveolar ridge #Overgrowth of alveolar ridge #Overgrowth of gum ridge #Thick alveolar ridges #Thickened alveolar ridges\n", + " definition of HP:0009085 (Alveolar ridge overgrowth)\n", + " \n", + " \n", + " Unilocular ovarian cyst\n", + " definition of HP:6000631 (Unilocular ovarian cyst)\n", + " \n", + " \n", + " An ovarian cyst without septa and a solid component.\n", + " definition of HP:6000631 (Unilocular ovarian cyst)\n", + " \n", + " \n", + " Lymphoma\n", + " definition of HP:0002665 (Lymphoma)\n", + " \n", + " \n", + " A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells.\n", + " definition of HP:0002665 (Lymphoma)\n", + " \n", + " \n", + " #Cancer of lymphatic system\n", + " definition of HP:0002665 (Lymphoma)\n", + " \n", + " \n", + " Low-molecular-weight proteinuria\n", + " definition of HP:0003126 (Low-molecular-weight proteinuria)\n", + " \n", + " \n", + " Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD).\n", + " definition of HP:0003126 (Low-molecular-weight proteinuria)\n", + " \n", + " \n", + " #Tubular proteinuria\n", + " definition of HP:0003126 (Low-molecular-weight proteinuria)\n", + " \n", + " \n", + " Hypersomnia\n", + " definition of HP:0100786 (Hypersomnia)\n", + " \n", + " \n", + " Excessive sleepiness or feeling of sleepiness, or difficulty staying awake despite having had adequate sleep, which persists over several days.\n", + " definition of HP:0100786 (Hypersomnia)\n", + " \n", + " \n", + " #Excessive sleep #Excessive sleepiness\n", + " definition of HP:0100786 (Hypersomnia)\n", + " \n", + " \n", + " Fetal barbiturate exposure\n", + " definition of HP:0034757 (Fetal barbiturate exposure)\n", + " \n", + " \n", + " A history of exposure during pregnancy of the mother of a fetus or child to barbiturate medications such as phenobarbital. Barbiturates are used medically as anxiolytics, hypnotics, and anticonvulsants.\n", + " definition of HP:0034757 (Fetal barbiturate exposure)\n", + " \n", + " \n", + " #Maternal barbiturate use\n", + " definition of HP:0034757 (Fetal barbiturate exposure)\n", + " \n", + " \n", + " Generalized ichthyosis\n", + " definition of HP:0007503 (Generalized ichthyosis)\n", + " \n", + " \n", + " #Generalised ichthyosis\n", + " definition of HP:0007503 (Generalized ichthyosis)\n", + " \n", + " \n", + " Pituitary adenoma\n", + " definition of HP:0002893 (Pituitary adenoma)\n", + " \n", + " \n", + " A benign epithelial tumor derived from intrinsic cells of the adenohypophysis (anterior pituitary).\n", + " definition of HP:0002893 (Pituitary adenoma)\n", + " \n", + " \n", + " #Noncancerous tumor in pituitary gland #Noncancerous tumour in pituitary gland #Pituitary gland adenoma\n", + " definition of HP:0002893 (Pituitary adenoma)\n", + " \n", + " \n", + " Increased level of allantoin in serum\n", + " definition of HP:0410052 (Increased level of allantoin in serum)\n", + " \n", + " \n", + " An increase in the level of allantoin in the serum.\n", + " definition of HP:0410052 (Increased level of allantoin in serum)\n", + " \n", + " \n", + " Cholecystitis\n", + " definition of HP:0001082 (Cholecystitis)\n", + " \n", + " \n", + " The presence of inflammatory changes in the gallbladder.\n", + " definition of HP:0001082 (Cholecystitis)\n", + " \n", + " \n", + " #Gallbladder inflammation\n", + " definition of HP:0001082 (Cholecystitis)\n", + " \n", + " \n", + " Abnormal globus pallidus morphology\n", + " definition of HP:0002453 (Abnormal globus pallidus morphology)\n", + " \n", + " \n", + " An abnormality of the globus pallidus.\n", + " definition of HP:0002453 (Abnormal globus pallidus morphology)\n", + " \n", + " \n", + " Prolonged euglobulin clot lysis time\n", + " definition of HP:0040243 (Prolonged euglobulin clot lysis time)\n", + " \n", + " \n", + " Abnormally increased length of time required for an in vitro clot to dissolve in the absence of the normal plasmin inhibitors. This test is a clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored.\n", + " definition of HP:0040243 (Prolonged euglobulin clot lysis time)\n", + " \n", + " \n", + " Connective tissue nevi\n", + " definition of HP:0100898 (Connective tissue nevi)\n", + " \n", + " \n", + " Connective tissue nevi are hamartomas in which one or several components of the dermis is altered.\n", + " definition of HP:0100898 (Connective tissue nevi)\n", + " \n", + " \n", + " Renal chloride wasting\n", + " definition of HP:0012602 (Renal chloride wasting)\n", + " \n", + " \n", + " High urine chloride in the presence of hypochloridemia.\n", + " definition of HP:0012602 (Renal chloride wasting)\n", + " \n", + " \n", + " #Kidney chloride wasting #Renal Cl wasting #Renal Cl- wasting\n", + " definition of HP:0012602 (Renal chloride wasting)\n", + " \n", + " \n", + " Focal atonic seizure\n", + " definition of HP:0020220 (Focal atonic seizure)\n", + " \n", + " \n", + " A focal seizure characterized at onset by sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic activity, typically lasting more than 500 ms but less than 2 seconds. It may involve the head, trunk, jaw or limb musculature.\n", + " definition of HP:0020220 (Focal atonic seizure)\n", + " \n", + " \n", + " #Localised atonic seizure #Localised hypotonic seizure #Localized atonic seizure #Localized hypotonic seizure #Partial atonic seizure #Partial hypotonic seizure #Segmental atonic seizure #Segmental hypotonic seizure\n", + " definition of HP:0020220 (Focal atonic seizure)\n", + " \n", + " \n", + " Abnormal vestibulo-spinal reflex\n", + " definition of HP:6001104 (Abnormal vestibulo-spinal reflex)\n", + " \n", + " \n", + " An abnormality of the vestibulospinal (VS) reflexes, which contribute to the control of postural orientation. In this task, they continuously collaborate with reflexes elicited by stimulation of visual and somatosensory receptors. Labyrinthine receptors are sensitive to modifications (i) of the head position with respect to the earth vertical or (ii) of the angular/linear velocity of head motion in space. This information can be used to monitor deviations from the maintained body position.\n", + " definition of HP:6001104 (Abnormal vestibulo-spinal reflex)\n", + " \n", + " \n", + " Low-set ears\n", + " definition of HP:0000369 (Low-set ears)\n", + " \n", + " \n", + " Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.\n", + " definition of HP:0000369 (Low-set ears)\n", + " \n", + " \n", + " #Low set ears #Low-set ears #Low-set pinnae #Lowset ears #Melotia\n", + " definition of HP:0000369 (Low-set ears)\n", + " \n", + " \n", + " Microform cleft of the upper lip\n", + " definition of HP:5201010 (Microform cleft of the upper lip)\n", + " \n", + " \n", + " Notch, groove, or scar of the upper lip without noticeable rupture of the lip.\n", + " definition of HP:5201010 (Microform cleft of the upper lip)\n", + " \n", + " \n", + " Increased circulating surfactant protein level\n", + " definition of HP:0032094 (Increased circulating surfactant protein level)\n", + " \n", + " \n", + " An increased concentration of a surfactant protein in the blood circulation. Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions. These two proteins are detectable in the bloodstream and an elevated level may reflect idiopathic pulmonary fibrosis.\n", + " definition of HP:0032094 (Increased circulating surfactant protein level)\n", + " \n", + " \n", + " #Increased serum surfactant protein level\n", + " definition of HP:0032094 (Increased circulating surfactant protein level)\n", + " \n", + " \n", + " Transient decreased circulating IgA\n", + " definition of HP:0033024 (Transient decreased circulating IgA)\n", + " \n", + " \n", + " A temporary reduction beneath the normal level of total immunoglobulin A (IgA) in the blood circulation.\n", + " definition of HP:0033024 (Transient decreased circulating IgA)\n", + " \n", + " \n", + " Abnormal circulating dehydroepiandrosterone concentration\n", + " definition of HP:0500022 (Abnormal circulating dehydroepiandrosterone concentration)\n", + " \n", + " \n", + " A deviation from the normal concentration of dehydroepiandrosterone in the circulation.\n", + " definition of HP:0500022 (Abnormal circulating dehydroepiandrosterone concentration)\n", + " \n", + " \n", + " #Abnormal serum androstenolone level #Abnormal serum dehydroepiandrosterone level #Abnormal serum DHEA\n", + " definition of HP:0500022 (Abnormal circulating dehydroepiandrosterone concentration)\n", + " \n", + " \n", + " EEG with central focal spikes\n", + " definition of HP:0012014 (EEG with central focal spikes)\n", + " \n", + " \n", + " EEG with focal sharp transient waves of a duration less than 80 msec in the central region.\n", + " definition of HP:0012014 (EEG with central focal spikes)\n", + " \n", + " \n", + " Pigment gallstones\n", + " definition of HP:0011981 (Pigment gallstones)\n", + " \n", + " \n", + " Gallstones composed primarily of bilirubin and calcium salts (calcium bilirubinate) with a low cholesterol concentration.\n", + " definition of HP:0011981 (Pigment gallstones)\n", + " \n", + " \n", + " Angina pectoris\n", + " definition of HP:0001681 (Angina pectoris)\n", + " \n", + " \n", + " Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia.\n", + " definition of HP:0001681 (Angina pectoris)\n", + " \n", + " \n", + " Purely bicuspid aortic valve\n", + " definition of HP:0031117 (Purely bicuspid aortic valve)\n", + " \n", + " \n", + " A type of bicuspid aortic valve (BAV) characterized by two equal-sized cusps, with no raphe and only two commissures. There is a lateral arrangement of the free edge of the cusps. Note that this differs from some other forms of BAV in which there are three commissures and two of the three cusps are joined by a raphe forming two functional leaflets. This type of BAV often is associated with aortic stenosis.\n", + " definition of HP:0031117 (Purely bicuspid aortic valve)\n", + " \n", + " \n", + " Low pulse pressure\n", + " definition of HP:0030851 (Low pulse pressure)\n", + " \n", + " \n", + " Reduced amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure).\n", + " definition of HP:0030851 (Low pulse pressure)\n", + " \n", + " \n", + " Obstruction of the superior vena cava\n", + " definition of HP:0031041 (Obstruction of the superior vena cava)\n", + " \n", + " \n", + " Blockage of blood flow through the superior vena cava (SVC). Because the venous drainage from the upper extremities, upper thorax and head is obstructed, SVC obstruction presents with symptoms related to engorgement of these areas. Both the degree of SVC compromise and the extent of collateral veins determine the varied clinical presentation, which can be as mild as slight facial and upper extremity edema or as dire as intracranial swelling, seizures, hemodynamic instability and tracheal obstruction.\n", + " definition of HP:0031041 (Obstruction of the superior vena cava)\n", + " \n", + " \n", + " #Superior vena cava obstruction\n", + " definition of HP:0031041 (Obstruction of the superior vena cava)\n", + " \n", + " \n", + " Increased carotid artery intimal medial thickness\n", + " definition of HP:0012273 (Increased carotid artery intimal medial thickness)\n", + " \n", + " \n", + " An increase in the combined thickness of the intima and media of the carotid artery.\n", + " definition of HP:0012273 (Increased carotid artery intimal medial thickness)\n", + " \n", + " \n", + " Type II cryptotia\n", + " definition of HP:0011254 (Type II cryptotia)\n", + " \n", + " \n", + " A type of cryptotia associated with reduction in size of the antihelix and inferior crus that are affected.\n", + " definition of HP:0011254 (Type II cryptotia)\n", + " \n", + " \n", + " #Type 2 cryptotia\n", + " definition of HP:0011254 (Type II cryptotia)\n", + " \n", + " \n", + " Jejunoileal ulceration\n", + " definition of HP:0005229 (Jejunoileal ulceration)\n", + " \n", + " \n", + " Focal impaired awareness sensory seizure with hot-cold sensations\n", + " definition of HP:0032853 (Focal impaired awareness sensory seizure with hot-cold sensations)\n", + " \n", + " \n", + " A focal sensory seizure with hot-cold sensations in which awareness is partially or fully impaired at some point during the seizure.\n", + " definition of HP:0032853 (Focal impaired awareness sensory seizure with hot-cold sensations)\n", + " \n", + " \n", + " Limb joint contracture\n", + " definition of HP:0003121 (Limb joint contracture)\n", + " \n", + " \n", + " A contracture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs.\n", + " definition of HP:0003121 (Limb joint contracture)\n", + " \n", + " \n", + " #Limb contractures\n", + " definition of HP:0003121 (Limb joint contracture)\n", + " \n", + " \n", + " Calcification of the small brain vessels\n", + " definition of HP:0002504 (Calcification of the small brain vessels)\n", + " \n", + " \n", + " Deposition of calcium salts within small blood vessels of the brain.\n", + " definition of HP:0002504 (Calcification of the small brain vessels)\n", + " \n", + " \n", + " Aplasia of the Eustachian tube\n", + " definition of HP:0040116 (Aplasia of the Eustachian tube)\n", + " \n", + " \n", + " #Absent eustachian tube\n", + " definition of HP:0040116 (Aplasia of the Eustachian tube)\n", + " \n", + " \n", + " Abnormality of globe size\n", + " definition of HP:0100887 (Abnormality of globe size)\n", + " \n", + " \n", + " An abnormality in the size of the ocular globe (eyeball).\n", + " definition of HP:0100887 (Abnormality of globe size)\n", + " \n", + " \n", + " #Abnormality of eyeball size #Eye size difference\n", + " definition of HP:0100887 (Abnormality of globe size)\n", + " \n", + " \n", + " Talon cusp\n", + " definition of HP:0011087 (Talon cusp)\n", + " \n", + " \n", + " Talon cusp is an accessory cusp located near the cingulum (the portion of the lingual or palatal aspect of the tooth that forms a convex protuberance at the cervical third of the anatomic crown).\n", + " definition of HP:0011087 (Talon cusp)\n", + " \n", + " \n", + " #Dens evaginatus #Talon cusps\n", + " definition of HP:0011087 (Talon cusp)\n", + " \n", + " \n", + " Unilateral microphthalmos\n", + " definition of HP:0011480 (Unilateral microphthalmos)\n", + " \n", + " \n", + " A developmental anomaly characterized by abnormal smallness of one eye.\n", + " definition of HP:0011480 (Unilateral microphthalmos)\n", + " \n", + " \n", + " #Abnormally small eyeball on one side\n", + " definition of HP:0011480 (Unilateral microphthalmos)\n", + " \n", + " \n", + " Absent cupid's bow\n", + " definition of HP:0010800 (Absent cupid's bow)\n", + " \n", + " \n", + " Lack of paramedian peaks and median notch of the upper lip vermilion.\n", + " definition of HP:0010800 (Absent cupid's bow)\n", + " \n", + " \n", + " #Absent cupid's bow #Agenesis of cupid's bow #Failure of development of cupid's bow #Lack of cupid's bow #Missing cupid's bow\n", + " definition of HP:0010800 (Absent cupid's bow)\n", + " \n", + " \n", + " Anti-GQ1b IgM antibody positivity\n", + " definition of HP:0034123 (Anti-GQ1b IgM antibody positivity)\n", + " \n", + " \n", + " The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside Q1b.\n", + " definition of HP:0034123 (Anti-GQ1b IgM antibody positivity)\n", + " \n", + " \n", + " Sudden death\n", + " definition of HP:0001699 (Sudden death)\n", + " \n", + " \n", + " Rapid and unexpected death.\n", + " definition of HP:0001699 (Sudden death)\n", + " \n", + " \n", + " Aplasia/Hypoplasia involving the musculature of the extremities\n", + " definition of HP:0009128 (Aplasia/Hypoplasia involving the musculature of the extremities)\n", + " \n", + " \n", + " #Absent/small muscles of extremities #Absent/underdeveloped muscles of extremities\n", + " definition of HP:0009128 (Aplasia/Hypoplasia involving the musculature of the extremities)\n", + " \n", + " \n", + " Focal absence of the external ear\n", + " definition of HP:0400003 (Focal absence of the external ear)\n", + " \n", + " \n", + " Absence of a localized portion of the ear that cannot be described by a more precise term (e.g., absent ear lobe).\n", + " definition of HP:0400003 (Focal absence of the external ear)\n", + " \n", + " \n", + " Anti-U11/U12 RNP antibody positivity\n", + " definition of HP:0034087 (Anti-U11/U12 RNP antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against U11/U12 RNP.\n", + " definition of HP:0034087 (Anti-U11/U12 RNP antibody positivity)\n", + " \n", + " \n", + " Persistent falcine venous sinus\n", + " definition of HP:6000295 (Persistent falcine venous sinus)\n", + " \n", + " \n", + " A falcine sinus that does not involute but persists beyond birth is defined as a persistent falcine sinus. In the 20-mm embryo stage, the primitive falx cerebri contains the sagittal plexus, a meshwork of anastomotic venous channels from which the superior sagittal sinus and straight sinus are thought to develop. A persistent falcine sinus represents a persistent channel of the caudal anastomotic loops of the sagittal plexus.\n", + " definition of HP:6000295 (Persistent falcine venous sinus)\n", + " \n", + " \n", + " History of abdominal surgery\n", + " definition of HP:6000311 (History of abdominal surgery)\n", + " \n", + " \n", + " A past medical history that indicates that the patient had a surgical procedure involving the abdomen.\n", + " definition of HP:6000311 (History of abdominal surgery)\n", + " \n", + " \n", + " Multiple cutaneous leiomyomas\n", + " definition of HP:0007437 (Multiple cutaneous leiomyomas)\n", + " \n", + " \n", + " The presence of multiple leiomyomas of the skin.\n", + " definition of HP:0007437 (Multiple cutaneous leiomyomas)\n", + " \n", + " \n", + " EMG: myotonic discharges\n", + " definition of HP:0100284 (EMG: myotonic discharges)\n", + " \n", + " \n", + " High frequency discharges in electromyography (EMG) that vary in amplitude and frequency, waxing and waning continuously with firing frequencies ranging from 150/second down to 20/second and producing a sound that has been referred to as a dive bomber sound.\n", + " definition of HP:0100284 (EMG: myotonic discharges)\n", + " \n", + " \n", + " Edema of the dorsum of hands\n", + " definition of HP:0007514 (Edema of the dorsum of hands)\n", + " \n", + " \n", + " An abnormal accumulation of fluid beneath the skin on the back of the hands.\n", + " definition of HP:0007514 (Edema of the dorsum of hands)\n", + " \n", + " \n", + " #Edema of dorsum of hands #Oedema of dorsum of hands #Oedema of the dorsum of hands\n", + " definition of HP:0007514 (Edema of the dorsum of hands)\n", + " \n", + " \n", + " High-frequency sensorineural hearing impairment\n", + " definition of HP:0001757 (High-frequency sensorineural hearing impairment)\n", + " \n", + " \n", + " A form of sensorineural hearing impairment that affects primarily the higher frequencies.\n", + " definition of HP:0001757 (High-frequency sensorineural hearing impairment)\n", + " \n", + " \n", + " #High frequency sensorineural hearing impairment #High-tone sensorineural deafness #High-tone sensorineural hearing impairment\n", + " definition of HP:0001757 (High-frequency sensorineural hearing impairment)\n", + " \n", + " \n", + " Superficial spreading melanoma\n", + " definition of HP:0012057 (Superficial spreading melanoma)\n", + " \n", + " \n", + " A type of melanoma that is flat and irregular in shape and color, with different shades of black and brown.\n", + " definition of HP:0012057 (Superficial spreading melanoma)\n", + " \n", + " \n", + " Neuroendocrine neoplasm\n", + " definition of HP:0100634 (Neuroendocrine neoplasm)\n", + " \n", + " \n", + " A tumor that originates from a neuroendocrine cell.\n", + " definition of HP:0100634 (Neuroendocrine neoplasm)\n", + " \n", + " \n", + " #Neuroendocrine neoplasia\n", + " definition of HP:0100634 (Neuroendocrine neoplasm)\n", + " \n", + " \n", + " Congenital stationary night blindness with normal fundus\n", + " definition of HP:0030638 (Congenital stationary night blindness with normal fundus)\n", + " \n", + " \n", + " Ectopic testis\n", + " definition of HP:6000460 (Ectopic testis)\n", + " \n", + " \n", + " Localization of the testis in an anatomic location other than the scrotum.\n", + " definition of HP:6000460 (Ectopic testis)\n", + " \n", + " \n", + " Diabetes insipidus\n", + " definition of HP:0000873 (Diabetes insipidus)\n", + " \n", + " \n", + " A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus).\n", + " definition of HP:0000873 (Diabetes insipidus)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the phalanges of the 4th toe\n", + " definition of HP:0010371 (Aplasia/Hypoplasia of the phalanges of the 4th toe)\n", + " \n", + " \n", + " #Absent/small bones of 4th toe #Absent/underdeveloped bones of 4th toe\n", + " definition of HP:0010371 (Aplasia/Hypoplasia of the phalanges of the 4th toe)\n", + " \n", + " \n", + " Absent circulating immunoglobulin kappa chain\n", + " definition of HP:6000261 (Absent circulating immunoglobulin kappa chain)\n", + " \n", + " \n", + " Nondetectable kappa chain in the blood circulation.\n", + " definition of HP:6000261 (Absent circulating immunoglobulin kappa chain)\n", + " \n", + " \n", + " Hemihypertrophy of upper limb\n", + " definition of HP:0100554 (Hemihypertrophy of upper limb)\n", + " \n", + " \n", + " Overgrowth of only one arm.\n", + " definition of HP:0100554 (Hemihypertrophy of upper limb)\n", + " \n", + " \n", + " #Overgrowth of one arm\n", + " definition of HP:0100554 (Hemihypertrophy of upper limb)\n", + " \n", + " \n", + " Interlobular septal thickening\n", + " definition of HP:0030879 (Interlobular septal thickening)\n", + " \n", + " \n", + " Presence of thickening of the interlobular septa of the lungs as seen on a CT scan.\n", + " definition of HP:0030879 (Interlobular septal thickening)\n", + " \n", + " \n", + " #Interlobular lines (pulmonary CT finding) #Peripheral lines (pulmonary CT finding) #Septal lines (pulmonary CT finding) #Septal thickening (pulmonary CT finding) #Short lines (pumonary CT finding)\n", + " definition of HP:0030879 (Interlobular septal thickening)\n", + " \n", + " \n", + " Salty tasting skin\n", + " definition of HP:6000725 (Salty tasting skin)\n", + " \n", + " \n", + " Skin tastes marked salty without an obvious explanation such as heat or exercise. This finding can be observed in infants with cystic fibrosis.\n", + " definition of HP:6000725 (Salty tasting skin)\n", + " \n", + " \n", + " Choroid plexus calcification\n", + " definition of HP:0006960 (Choroid plexus calcification)\n", + " \n", + " \n", + " The presence of calcium deposition in the choroid plexus.\n", + " definition of HP:0006960 (Choroid plexus calcification)\n", + " \n", + " \n", + " #Calcified choroid plexus\n", + " definition of HP:0006960 (Choroid plexus calcification)\n", + " \n", + " \n", + " Anti-coccidioidal antibody positivity\n", + " definition of HP:0430077 (Anti-coccidioidal antibody positivity)\n", + " \n", + " \n", + " The presence of antibodies in the blood circulation that react against a component of a fungus of the Coccidioides genus.\n", + " definition of HP:0430077 (Anti-coccidioidal antibody positivity)\n", + " \n", + " \n", + " #Coccidioidal antibodies present in blood\n", + " definition of HP:0430077 (Anti-coccidioidal antibody positivity)\n", + " \n", + " \n", + " Curved proximal phalanx of the hallux\n", + " definition of HP:0010088 (Curved proximal phalanx of the hallux)\n", + " \n", + " \n", + " A deviation from the normal straight form of the proximal phalanx of the big toe.\n", + " definition of HP:0010088 (Curved proximal phalanx of the hallux)\n", + " \n", + " \n", + " #Curved innermost bone of the big toe\n", + " definition of HP:0010088 (Curved proximal phalanx of the hallux)\n", + " \n", + " \n", + " Elevated circulating lysophosphatidylcholine concentration\n", + " definition of HP:6000403 (Elevated circulating lysophosphatidylcholine concentration)\n", + " \n", + " \n", + " The concentration of lysophosphatidylcholines in the blood circulation is above the upper limit of normal.\n", + " definition of HP:6000403 (Elevated circulating lysophosphatidylcholine concentration)\n", + " \n", + " \n", + " Delirium\n", + " definition of HP:0031258 (Delirium)\n", + " \n", + " \n", + " A state of sudden and severe confusion.\n", + " definition of HP:0031258 (Delirium)\n", + " \n", + " \n", + " #Altered consciousness or cognition\n", + " definition of HP:0031258 (Delirium)\n", + " \n", + " \n", + " Globus pallidus hypointensity on susceptibility-weighted imaging\n", + " definition of HP:0033049 (Globus pallidus hypointensity on susceptibility-weighted imaging)\n", + " \n", + " \n", + " Hypointence (dark) appearance of the globus pallidus inmagnetic resonance imaging using susceptibility weighted imaging (SWI).\n", + " definition of HP:0033049 (Globus pallidus hypointensity on susceptibility-weighted imaging)\n", + " \n", + " \n", + " Increased CSF ornithine concentration\n", + " definition of HP:0500244 (Increased CSF ornithine concentration)\n", + " \n", + " \n", + " Abnormally increased levels of ornithine in cerebrospinal fluid.\n", + " definition of HP:0500244 (Increased CSF ornithine concentration)\n", + " \n", + " \n", + " #High ornithine levels in cerebrospinal fluid\n", + " definition of HP:0500244 (Increased CSF ornithine concentration)\n", + " \n", + " \n", + " Oral mucosal papule\n", + " definition of HP:6000957 (Oral mucosal papule)\n", + " \n", + " \n", + " A small (less than 5 mm in diameter), elevated, circumscribed, solid, palpable mass located in thte mucosa of the oral cavity.\n", + " definition of HP:6000957 (Oral mucosal papule)\n", + " \n", + " \n", + " Reduced bone-marrow megakaryocyte size\n", + " definition of HP:0034541 (Reduced bone-marrow megakaryocyte size)\n", + " \n", + " \n", + " Decreased in average size (diameter) of megakaryocytes in the bone marrow. Megakaryocyte diameter can be assessed as using automated cellular imaging systems.\n", + " definition of HP:0034541 (Reduced bone-marrow megakaryocyte size)\n", + " \n", + " \n", + " Elliptocytosis\n", + " definition of HP:0004445 (Elliptocytosis)\n", + " \n", + " \n", + " The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear.\n", + " definition of HP:0004445 (Elliptocytosis)\n", + " \n", + " \n", + " #Ovalocytes #Ovalocytosis\n", + " definition of HP:0004445 (Elliptocytosis)\n", + " \n", + " \n", + " Trichilemmoma\n", + " definition of HP:0012844 (Trichilemmoma)\n", + " \n", + " \n", + " A benign tumor originating from the outer root sheath of the hair follicle.\n", + " definition of HP:0012844 (Trichilemmoma)\n", + " \n", + " \n", + " #Tricholemmoma\n", + " definition of HP:0012844 (Trichilemmoma)\n", + " \n", + " \n", + " Panuveitis\n", + " definition of HP:0012121 (Panuveitis)\n", + " \n", + " \n", + " Inflammation of the uveal tract in which inflammation affects the anterior chamber, vitreous, retina or choroid.\n", + " definition of HP:0012121 (Panuveitis)\n", + " \n", + " \n", + " Polychromasia\n", + " definition of HP:0034609 (Polychromasia)\n", + " \n", + " \n", + " Increased variation in the color of the erythrocytes (red blood cells), including pale red, normal or dark colors, indicating a highly variable hemoglobin concentration. Typically this indicates the release of immature erythrocytes in states of anemia.\n", + " definition of HP:0034609 (Polychromasia)\n", + " \n", + " \n", + " #Polychromasia on peripheral blood smear\n", + " definition of HP:0034609 (Polychromasia)\n", + " \n", + " \n", + " Agenesis of premolar\n", + " definition of HP:0011051 (Agenesis of premolar)\n", + " \n", + " \n", + " Agenesis of premolar tooth.\n", + " definition of HP:0011051 (Agenesis of premolar)\n", + " \n", + " \n", + " #Agenesis of bicuspid #Failure of development of bicuspid #Failure of development of premolar\n", + " definition of HP:0011051 (Agenesis of premolar)\n", + " \n", + " \n", + " Atherosclerotic lesion\n", + " definition of HP:0031678 (Atherosclerotic lesion)\n", + " \n", + " \n", + " A lesion associated with atherosclerosis, a multifactorial and multipart progressive disease manifested by the focal development within the arterial wall of lesions, that ranges from the development of a fatty streak, plaque progression, and plaque disruption. Atherosclerotic lesions demonstrate consistent morphological characteristics, which indicate that each type may stabilize temporarily or permanently and that progression to the next type may require an additional stimulus.\n", + " definition of HP:0031678 (Atherosclerotic lesion)\n", + " \n", + " \n", + " Abnormal experience of reality\n", + " definition of HP:5200423 (Abnormal experience of reality)\n", + " \n", + " \n", + " Subjective phenomena or perceptions that deviate from what is considered correct or are outside the range of normal human experiences.\n", + " definition of HP:5200423 (Abnormal experience of reality)\n", + " \n", + " \n", + " Incomplete bilateral cleft lip\n", + " definition of HP:5201012 (Incomplete bilateral cleft lip)\n", + " \n", + " \n", + " Bilateral cleft lip in which the cleft lip on both sides are incomplete (i.e. start from the bottom of the upper lip but do not reach the nasal cavity), or the cleft lip on one is incomplete and a microform on the other side.\n", + " definition of HP:5201012 (Incomplete bilateral cleft lip)\n", + " \n", + " \n", + " Prominent xiphoid process\n", + " definition of HP:0100893 (Prominent xiphoid process)\n", + " \n", + " \n", + " Increased prominence of the xiphoid process of the sternum.\n", + " definition of HP:0100893 (Prominent xiphoid process)\n", + " \n", + " \n", + " #Prominent xiphisternum\n", + " definition of HP:0100893 (Prominent xiphoid process)\n", + " \n", + " \n", + " Increased CD4:CD8 ratio\n", + " definition of HP:0033221 (Increased CD4:CD8 ratio)\n", + " \n", + " \n", + " An abnormal elevation of the relative proportion of CD4+ to CD8+ T cells.\n", + " definition of HP:0033221 (Increased CD4:CD8 ratio)\n", + " \n", + " \n", + " Elevated circulating decanoylcarnitine concentration\n", + " definition of HP:6000273 (Elevated circulating decanoylcarnitine concentration)\n", + " \n", + " \n", + " Concentration of decanoylcarnitine (C10:0) in the blood circulation above the upper limit of normal.\n", + " definition of HP:6000273 (Elevated circulating decanoylcarnitine concentration)\n", + " \n", + " \n", + " #C10: decanoylcarnitine high in blood #Elevated circulating C10:0 acylcarnitine concentration\n", + " definition of HP:6000273 (Elevated circulating decanoylcarnitine concentration)\n", + " \n", + " \n", + " Thickened cortex of the clavicle\n", + " definition of HP:6000936 (Thickened cortex of the clavicle)\n", + " \n", + " \n", + " Abnormal thickening of the cortex of the clavicle.\n", + " definition of HP:6000936 (Thickened cortex of the clavicle)\n", + " \n", + " \n", + " #Broad cortex of clavicle #Cortical thickening of the clavicle #Thickened cortices of clavicle\n", + " definition of HP:6000936 (Thickened cortex of the clavicle)\n", + " \n", + " \n", + " Abnormal urinary organic compound level\n", + " definition of HP:6000531 (Abnormal urinary organic compound level)\n", + " \n", + " \n", + " The amount of an organic compound in the urine, normalized for urine concentration, is outside the limits of normal. An organic compound is defined here as a chemical compound that contains a carbon-hydrogen or carbon-carbon bond, although some other definitions exist. Examples of organic compounds includes alkanes, alkenes, alkynes, aromatic compounds, alcohols, ketones, aldehydes, carboxylic acids, and esters.\n", + " definition of HP:6000531 (Abnormal urinary organic compound level)\n", + " \n", + " \n", + " Focal impaired awareness motor seizure with version\n", + " definition of HP:0032713 (Focal impaired awareness motor seizure with version)\n", + " \n", + " \n", + " A focal motor seizure with version characterized by impaired awareness at some point during the seizure.\n", + " definition of HP:0032713 (Focal impaired awareness motor seizure with version)\n", + " \n", + " \n", + " #Focal motor impaired awareness seizure with version\n", + " definition of HP:0032713 (Focal impaired awareness motor seizure with version)\n", + " \n", + " \n", + " Clonic seizure\n", + " definition of HP:0020221 (Clonic seizure)\n", + " \n", + " \n", + " A clonic seizure is a type of motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.\n", + " definition of HP:0020221 (Clonic seizure)\n", + " \n", + " \n", + " Abnormal circulating creatine concentration\n", + " definition of HP:0012113 (Abnormal circulating creatine concentration)\n", + " \n", + " \n", + " A deviation from the normal concentration of creatine in the blood circulation. Creatine is a derivative of glycine having methyl and amidino groups attached to the nitrogen. Creatine is naturally produced from amino acids, primarily in liver and kidney, and acts as an energy source for cells, primarily for muscle cells.\n", + " definition of HP:0012113 (Abnormal circulating creatine concentration)\n", + " \n", + " \n", + " #Abnormality of creatine metabolism\n", + " definition of HP:0012113 (Abnormal circulating creatine concentration)\n", + " \n", + " \n", + " Hypoplastic inferior ilia\n", + " definition of HP:0008821 (Hypoplastic inferior ilia)\n", + " \n", + " \n", + " Lateral rectus muscle weakness\n", + " definition of HP:0031750 (Lateral rectus muscle weakness)\n", + " \n", + " \n", + " Decreased strength (ability to move) of the lateral rectus muscle.\n", + " definition of HP:0031750 (Lateral rectus muscle weakness)\n", + " \n", + " \n", + " Bracket epiphysis of the 1st metacarpal\n", + " definition of HP:0010016 (Bracket epiphysis of the 1st metacarpal)\n", + " \n", + " \n", + " An epiphysis that curves around from its transverse orientation to a longitudinal one from proximal to distal along one side of the phalanx, thus resembling the letter 'C' and forming a bracket around the diaphysis. This results in a so called delta phalanx characterized by a triangular or trapezoidal shaped bone with a C-shaped epiphyseal plate.\n", + " definition of HP:0010016 (Bracket epiphysis of the 1st metacarpal)\n", + " \n", + " \n", + " #Bracket shaped end part of 1st long bone of hand\n", + " definition of HP:0010016 (Bracket epiphysis of the 1st metacarpal)\n", + " \n", + " \n", + " Abnormal spinal dura mater morphology\n", + " definition of HP:0009744 (Abnormal spinal dura mater morphology)\n", + " \n", + " \n", + " An abnormality of the spinal dura mater, which is the outermost of the three layers of the meninges surrounding the spinal cord.\n", + " definition of HP:0009744 (Abnormal spinal dura mater morphology)\n", + " \n", + " \n", + " #Abnormality of the spinal dura mater\n", + " definition of HP:0009744 (Abnormal spinal dura mater morphology)\n", + " \n", + " \n", + " Hypoargininemia\n", + " definition of HP:0005961 (Hypoargininemia)\n", + " \n", + " \n", + " A decreased concentration of arginine in the blood.\n", + " definition of HP:0005961 (Hypoargininemia)\n", + " \n", + " \n", + " #Low blood arginine levels\n", + " definition of HP:0005961 (Hypoargininemia)\n", + " \n", + " \n", + " Porokeratosis\n", + " definition of HP:0200044 (Porokeratosis)\n", + " \n", + " \n", + " A clonal disorder of keratinization with one or multiple atrophic patches surrounded by a clinically and histologically distinctive hyperkeratotic ridgelike border called the cornoid lamella.\n", + " definition of HP:0200044 (Porokeratosis)\n", + " \n", + " \n", + " Abnormality of the distal tibial epiphysis\n", + " definition of HP:0010592 (Abnormality of the distal tibial epiphysis)\n", + " \n", + " \n", + " #Abnormality of the end part of outermost shankbone #Abnormality of the end part of outermost shinbone\n", + " definition of HP:0010592 (Abnormality of the distal tibial epiphysis)\n", + " \n", + " \n", + " Polydipsia\n", + " definition of HP:0001959 (Polydipsia)\n", + " \n", + " \n", + " Excessive thirst manifested by excessive fluid intake.\n", + " definition of HP:0001959 (Polydipsia)\n", + " \n", + " \n", + " #Extreme thirst\n", + " definition of HP:0001959 (Polydipsia)\n", + " \n", + " \n", + " Neonatal intestinal obstruction\n", + " definition of HP:0005234 (Neonatal intestinal obstruction)\n", + " \n", + " \n", + " Hypoplasia of the ear cartilage\n", + " definition of HP:0100720 (Hypoplasia of the ear cartilage)\n", + " \n", + " \n", + " #Underdeveloped ear cartilage\n", + " definition of HP:0100720 (Hypoplasia of the ear cartilage)\n", + " \n", + " \n", + " Thickened ribs\n", + " definition of HP:0000900 (Thickened ribs)\n", + " \n", + " \n", + " Increased thickness (diameter) of ribs.\n", + " definition of HP:0000900 (Thickened ribs)\n", + " \n", + " \n", + " Chronic monilial nail infection\n", + " definition of HP:0008396 (Chronic monilial nail infection)\n", + " \n", + " \n", + " Chronic infection of the nails by Candida species.\n", + " definition of HP:0008396 (Chronic monilial nail infection)\n", + " \n", + " \n", + " #Fungal infection of the nail\n", + " definition of HP:0008396 (Chronic monilial nail infection)\n", + " \n", + " \n", + " Irregular menstruation\n", + " definition of HP:0000858 (Irregular menstruation)\n", + " \n", + " \n", + " Abnormally high variation in the amount of time between periods.\n", + " definition of HP:0000858 (Irregular menstruation)\n", + " \n", + " \n", + " #Irregular menses #Irregular periods #Menstrual irregularities #Menstrual irregularity\n", + " definition of HP:0000858 (Irregular menstruation)\n", + " \n", + " \n", + " ST segment depression\n", + " definition of HP:0012250 (ST segment depression)\n", + " \n", + " \n", + " An electrocardiographic anomaly in which the ST segment is observed to be located inferior to the isoelectric line.\n", + " definition of HP:0012250 (ST segment depression)\n", + " \n", + " \n", + " Lateral\n", + " definition of HP:0025275 (Lateral)\n", + " \n", + " \n", + " Applies to an abnormality that is located farther from the median plane or midline of the body or of the referenced structure.\n", + " definition of HP:0025275 (Lateral)\n", + " \n", + " \n", + " Decreased pineal volume\n", + " definition of HP:0012685 (Decreased pineal volume)\n", + " \n", + " \n", + " An abnormal reduction in the quantity of three-dimensional space taken up by the pineal gland.\n", + " definition of HP:0012685 (Decreased pineal volume)\n", + " \n", + " \n", + " Bullet-shaped middle phalanx of the 5th toe\n", + " definition of HP:0100436 (Bullet-shaped middle phalanx of the 5th toe)\n", + " \n", + " \n", + " An abnormal morphology of the middle phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.\n", + " definition of HP:0100436 (Bullet-shaped middle phalanx of the 5th toe)\n", + " \n", + " \n", + " #Bullet-shaped middle bone of the little toe #Bullet-shaped middle bone of the pinkie toe #Bullet-shaped middle bone of the pinky toe\n", + " definition of HP:0100436 (Bullet-shaped middle phalanx of the 5th toe)\n", + " \n", + " \n", + " Monoclonal elevation of circulating IgA\n", + " definition of HP:0032335 (Monoclonal elevation of circulating IgA)\n", + " \n", + " \n", + " An increase in circulating IgA characterized by one predominant band in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.\n", + " definition of HP:0032335 (Monoclonal elevation of circulating IgA)\n", + " \n", + " \n", + " Hemoglobin Barts\n", + " definition of HP:0005507 (Hemoglobin Barts)\n", + " \n", + " \n", + " Normal adult hemoglobin is composed of two chains each of alpha and beta globin. Hb Barts (Hemoglobin Barts) is a tetramer with four gamma globin chains, and is essentially pathognomonic for one or another form of alpha thalassemia. Hb Barts has an extremely high affinity for oxygen, resulting in almost no oxygen delivery to the tissues.\n", + " definition of HP:0005507 (Hemoglobin Barts)\n", + " \n", + " \n", + " #Haemoglobin Barts #Hb Barts\n", + " definition of HP:0005507 (Hemoglobin Barts)\n", + " \n", + " \n", + " Flattened moderately deformed vertebrae\n", + " definition of HP:0005752 (Flattened moderately deformed vertebrae)\n", + " \n", + " \n", + " Reduced alpha-aminoadipic semialdehyde synthase activity in cultured fibroblasts\n", + " definition of HP:6000081 (Reduced alpha-aminoadipic semialdehyde synthase activity in cultured fibroblasts)\n", + " \n", + " \n", + " Activity of alpha-aminoadipic semialdehyde synthase below the lower limit of normal in cultured fibroblasts.\n", + " definition of HP:6000081 (Reduced alpha-aminoadipic semialdehyde synthase activity in cultured fibroblasts)\n", + " \n", + " \n", + " #Alpha-aminoadipic semialdehyde synthase low in fibroblasts\n", + " definition of HP:6000081 (Reduced alpha-aminoadipic semialdehyde synthase activity in cultured fibroblasts)\n", + " \n", + " \n", + " Episodic upper airway obstruction\n", + " definition of HP:0012271 (Episodic upper airway obstruction)\n", + " \n", + " \n", + " Intermittent episodes of increased resistance to the passage of air in the upper airway.\n", + " definition of HP:0012271 (Episodic upper airway obstruction)\n", + " \n", + " \n", + " Minimal change glomerulonephritis\n", + " definition of HP:0012579 (Minimal change glomerulonephritis)\n", + " \n", + " \n", + " The presence of minimal changes visible by light microscopy but flattened and fused podocyte foot processes on electron microscopy in a person with nephrotic range proteinuria.\n", + " definition of HP:0012579 (Minimal change glomerulonephritis)\n", + " \n", + " \n", + " #Minimal change disease #Minimal change nephropathy\n", + " definition of HP:0012579 (Minimal change glomerulonephritis)\n", + " \n", + " \n", + " Right atrial enlargement\n", + " definition of HP:0030718 (Right atrial enlargement)\n", + " \n", + " \n", + " Increase in size of the right atrium.\n", + " definition of HP:0030718 (Right atrial enlargement)\n", + " \n", + " \n", + " #Dilated right atrium #Enlarged heart right atrium #Right atrial dilatation\n", + " definition of HP:0030718 (Right atrial enlargement)\n", + " \n", + " \n", + " Abnormality of mouth size\n", + " definition of HP:0011337 (Abnormality of mouth size)\n", + " \n", + " \n", + " #Abnormality of mouth size #Anomaly of mouth size\n", + " definition of HP:0011337 (Abnormality of mouth size)\n", + " \n", + " \n", + " Thinking-induced seizure\n", + " definition of HP:0020215 (Thinking-induced seizure)\n", + " \n", + " \n", + " Seizures induced by thinking and decision-making.\n", + " definition of HP:0020215 (Thinking-induced seizure)\n", + " \n", + " \n", + " #Cognition induced seizure\n", + " definition of HP:0020215 (Thinking-induced seizure)\n", + " \n", + " \n", + " Abnormal embryonic development\n", + " definition of HP:0033334 (Abnormal embryonic development)\n", + " \n", + " \n", + " An anomaly in the development of the embryo, that is, of the early developmental stage of development that follows the fertilization of an egg by sperm.\n", + " definition of HP:0033334 (Abnormal embryonic development)\n", + " \n", + " \n", + " Lip cyanosis\n", + " definition of HP:0034030 (Lip cyanosis)\n", + " \n", + " \n", + " Bluish discoloration of the lips.\n", + " definition of HP:0034030 (Lip cyanosis)\n", + " \n", + " \n", + " #Bluish lips #Cyanotic lips #Labial cyanosis\n", + " definition of HP:0034030 (Lip cyanosis)\n", + " \n", + " \n", + " Urethral diverticulum\n", + " definition of HP:0008722 (Urethral diverticulum)\n", + " \n", + " \n", + " The presence of a diverticulum (sac or pouch) in the wall of the urethra.\n", + " definition of HP:0008722 (Urethral diverticulum)\n", + " \n", + " \n", + " Periorbital ecchymosis with tarsal plate sparing\n", + " definition of HP:0025553 (Periorbital ecchymosis with tarsal plate sparing)\n", + " \n", + " \n", + " Subcutaneous bleeding with a diameter greater than 1 cm (ecchymosis). The bleeding does not extend into the tarsal plate (the comparatively thick, elongated plates of dense connective tissue within the eyelid) due to an anatomic structure called the orbital septum, which limits extravasation of blood beyond the tarsal plate.\n", + " definition of HP:0025553 (Periorbital ecchymosis with tarsal plate sparing)\n", + " \n", + " \n", + " #Raccoon eyes\n", + " definition of HP:0025553 (Periorbital ecchymosis with tarsal plate sparing)\n", + " \n", + " \n", + " Fibroadenoma of the breast\n", + " definition of HP:0010619 (Fibroadenoma of the breast)\n", + " \n", + " \n", + " A benign biphasic tumor of the breast with epithelial and stromal components.\n", + " definition of HP:0010619 (Fibroadenoma of the breast)\n", + " \n", + " \n", + " #Breast fibroadenoma #Breast fibroadenomas #Breast fibroadenosis #Fibroadenosis - breast #Fibroadenosis of breast\n", + " definition of HP:0010619 (Fibroadenoma of the breast)\n", + " \n", + " \n", + " Exacerbated by pronation\n", + " definition of HP:6000790 (Exacerbated by pronation)\n", + " \n", + " \n", + " Applied to a sign or symptom that is aggravated by (or made more painful by) pronation. Pronation of the hand involves the rotation of the forearm and wrist so that the palm of the hand faces downwards or towards the back (posteriorly).\n", + " definition of HP:6000790 (Exacerbated by pronation)\n", + " \n", + " \n", + " Abnormal lymphocyte count\n", + " definition of HP:0040088 (Abnormal lymphocyte count)\n", + " \n", + " \n", + " Any abnormality in the total number of lymphocytes in the blood.\n", + " definition of HP:0040088 (Abnormal lymphocyte count)\n", + " \n", + " \n", + " #Abnormal lymphocyte count #Abnormal lymphocyte counts #Abnormal number of lymphocytes #Abnormal numbers of lymphocytes #Abnormality of lymphocyte number\n", + " definition of HP:0040088 (Abnormal lymphocyte count)\n", + " \n", + " \n", + " Cyclic neutropenia\n", + " definition of HP:0040289 (Cyclic neutropenia)\n", + " \n", + " \n", + " Recurrent episodes of abnormally low levels of neutrophils in the body (neutropenia).\n", + " definition of HP:0040289 (Cyclic neutropenia)\n", + " \n", + " \n", + " #CyN\n", + " definition of HP:0040289 (Cyclic neutropenia)\n", + " \n", + " \n", + " Increased non-HDL cholesterol concentration\n", + " definition of HP:0033626 (Increased non-HDL cholesterol concentration)\n", + " \n", + " \n", + " Increase above normal levels of non-HDL cholesterol in the blood. Non-HDL cholesterol is total cholesterol minus high-density lipoprotein HDL-cholesterol (high-density lipoprotein-cholesterol).\n", + " definition of HP:0033626 (Increased non-HDL cholesterol concentration)\n", + " \n", + " \n", + " #Elevated non-HDL cholesterol concentration\n", + " definition of HP:0033626 (Increased non-HDL cholesterol concentration)\n", + " \n", + " \n", + " Dark choroid\n", + " definition of HP:0025148 (Dark choroid)\n", + " \n", + " \n", + " A fluorescein angiographic finding of absence of the normal background fluorescence (a dark choroid).\n", + " definition of HP:0025148 (Dark choroid)\n", + " \n", + " \n", + " Anti-HLA-A IgG3 antibody positivity\n", + " definition of HP:0034021 (Anti-HLA-A IgG3 antibody positivity)\n", + " \n", + " \n", + " The presence of IgG3 autoantibodies in the blood circulation that react against a human leukocyte antigen-A (HLA-A).\n", + " definition of HP:0034021 (Anti-HLA-A IgG3 antibody positivity)\n", + " \n", + " \n", + " Hypertrophic auricular cartilage\n", + " definition of HP:0008608 (Hypertrophic auricular cartilage)\n", + " \n", + " \n", + " Left aortic arch with right descending aorta and right ductus arteriosus\n", + " definition of HP:0011596 (Left aortic arch with right descending aorta and right ductus arteriosus)\n", + " \n", + " \n", + " The ring may be completed by the ductal ligament.\n", + " definition of HP:0011596 (Left aortic arch with right descending aorta and right ductus arteriosus)\n", + " \n", + " \n", + " Lower extremity joint dislocation\n", + " definition of HP:0030311 (Lower extremity joint dislocation)\n", + " \n", + " \n", + " Displacement or malalignment of one or more joints in the lower extremity (leg).\n", + " definition of HP:0030311 (Lower extremity joint dislocation)\n", + " \n", + " \n", + " #Dislocated leg joints\n", + " definition of HP:0030311 (Lower extremity joint dislocation)\n", + " \n", + " \n", + " Abnormal labia minora morphology\n", + " definition of HP:0012880 (Abnormal labia minora morphology)\n", + " \n", + " \n", + " An anomaly of the labia minora, the folds of skin between the outer labia.\n", + " definition of HP:0012880 (Abnormal labia minora morphology)\n", + " \n", + " \n", + " #Abnormality of the inner vaginal lips #Abnormality of the labia minora\n", + " definition of HP:0012880 (Abnormal labia minora morphology)\n", + " \n", + " \n", + " Cutaneous hamartoma\n", + " definition of HP:0031111 (Cutaneous hamartoma)\n", + " \n", + " \n", + " A hamartoma (tissue malformation consisting of an abnormal mixture of constitutive components) originating in the skin.\n", + " definition of HP:0031111 (Cutaneous hamartoma)\n", + " \n", + " \n", + " #Skin hamartoma\n", + " definition of HP:0031111 (Cutaneous hamartoma)\n", + " \n", + " \n", + " Complete or near-complete absence of specific antibody response to meningococcus vaccine\n", + " definition of HP:0410304 (Complete or near-complete absence of specific antibody response to meningococcus vaccine)\n", + " \n", + " \n", + " The inability to synthesize postvaccination antibodies against a meningococcus antigen, as measured by antibody titer determination following vaccination.\n", + " definition of HP:0410304 (Complete or near-complete absence of specific antibody response to meningococcus vaccine)\n", + " \n", + " \n", + " Focal sensory seizure with vestibular features\n", + " definition of HP:0032759 (Focal sensory seizure with vestibular features)\n", + " \n", + " \n", + " A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation as its first clinical manifestation.\n", + " definition of HP:0032759 (Focal sensory seizure with vestibular features)\n", + " \n", + " \n", + " #Focal vestibular seizure #Partial vestibular seizure #Vestibular aura\n", + " definition of HP:0032759 (Focal sensory seizure with vestibular features)\n", + " \n", + " \n", + " Abnormal humeral diaphysis morphology\n", + " definition of HP:0003926 (Abnormal humeral diaphysis morphology)\n", + " \n", + " \n", + " An anomaly of the humeral diaphysis.\n", + " definition of HP:0003926 (Abnormal humeral diaphysis morphology)\n", + " \n", + " \n", + " #Abnormality of shaft of long bone in upper arm #Abnormality of the humeral diaphysis\n", + " definition of HP:0003926 (Abnormal humeral diaphysis morphology)\n", + " \n", + " \n", + " Vitreous snowballs\n", + " definition of HP:0030661 (Vitreous snowballs)\n", + " \n", + " \n", + " Yellow-white inflammatory aggregates in the vitreous that are found in the midvitreous and inferior periphery.\n", + " definition of HP:0030661 (Vitreous snowballs)\n", + " \n", + " \n", + " Pulmonic regurgitation\n", + " definition of HP:0010444 (Pulmonic regurgitation)\n", + " \n", + " \n", + " The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole.\n", + " definition of HP:0010444 (Pulmonic regurgitation)\n", + " \n", + " \n", + " #Pulmonary incompetence #Pulmonary valve insufficiency #Pulmonary valve regurgitation #Puolmonary valve insufficiency\n", + " definition of HP:0010444 (Pulmonic regurgitation)\n", + " \n", + " \n", + " Prostatitis\n", + " definition of HP:0000024 (Prostatitis)\n", + " \n", + " \n", + " The presence of inflammation of the prostate.\n", + " definition of HP:0000024 (Prostatitis)\n", + " \n", + " \n", + " #Inflammation of the prostate\n", + " definition of HP:0000024 (Prostatitis)\n", + " \n", + " \n", + " Posterior fossa mass lesion\n", + " definition of HP:6001085 (Posterior fossa mass lesion)\n", + " \n", + " \n", + " An abnormal growth or accumulation of tissue in the posterior fossa, affecting the cerebellum or fourth ventricle. Typically a mass is an initial finding that will lead to additional workup.\n", + " definition of HP:6001085 (Posterior fossa mass lesion)\n", + " \n", + " \n", + " Hepatic bridging fibrosis\n", + " definition of HP:0012852 (Hepatic bridging fibrosis)\n", + " \n", + " \n", + " Hepatic fibrosis that reaches from a portal area to another portal area.\n", + " definition of HP:0012852 (Hepatic bridging fibrosis)\n", + " \n", + " \n", + " Focal aware cognitive seizure with auditory agnosia\n", + " definition of HP:0032684 (Focal aware cognitive seizure with auditory agnosia)\n", + " \n", + " \n", + " A focal cognitive seizure with auditory agnosia characterized by retained awareness throughout the seizure.\n", + " definition of HP:0032684 (Focal aware cognitive seizure with auditory agnosia)\n", + " \n", + " \n", + " Mandibular pain\n", + " definition of HP:0200025 (Mandibular pain)\n", + " \n", + " \n", + " An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the mandible.\n", + " definition of HP:0200025 (Mandibular pain)\n", + " \n", + " \n", + " #Lower jaw pain\n", + " definition of HP:0200025 (Mandibular pain)\n", + " \n", + " \n", + " Olanzapine exposure\n", + " definition of HP:6000780 (Olanzapine exposure)\n", + " \n", + " \n", + " History of having taken olanzapine.\n", + " definition of HP:6000780 (Olanzapine exposure)\n", + " \n", + " \n", + " Anterior plagiocephaly\n", + " definition of HP:0011326 (Anterior plagiocephaly)\n", + " \n", + " \n", + " Asymmetry of the anterior part of the skull.\n", + " definition of HP:0011326 (Anterior plagiocephaly)\n", + " \n", + " \n", + " #Anterior flat head syndrome #Deformational frontal plagiocephaly #Frontal plagiocephaly\n", + " definition of HP:0011326 (Anterior plagiocephaly)\n", + " \n", + " \n", + " Decreased level of thrombomodulin\n", + " definition of HP:0040229 (Decreased level of thrombomodulin)\n", + " \n", + " \n", + " Thrombomodulin is a cofactor in the thrombin induced activation of Protein C. In the case of deficiency there will be less Protein C and tendency to clot\n", + " definition of HP:0040229 (Decreased level of thrombomodulin)\n", + " \n", + " \n", + " Congenital diaphragmatic hernia\n", + " definition of HP:0000776 (Congenital diaphragmatic hernia)\n", + " \n", + " \n", + " The presence of a hernia of the diaphragm present at birth.\n", + " definition of HP:0000776 (Congenital diaphragmatic hernia)\n", + " \n", + " \n", + " #Diaphragmatic hernia\n", + " definition of HP:0000776 (Congenital diaphragmatic hernia)\n", + " \n", + " \n", + " Absent distal phalanx of the 3rd toe\n", + " definition of HP:0100378 (Absent distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Developmental aplasia of the distal phalanx of third toe.\n", + " definition of HP:0100378 (Absent distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Absent distal phalanx of the third toe #Absent outermost bone of the 3rd toe #Aplasia of the distal phalanx of the 3rd toe\n", + " definition of HP:0100378 (Absent distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Abnormal L-selectin shedding\n", + " definition of HP:0410251 (Abnormal L-selectin shedding)\n", + " \n", + " \n", + " An abnormality in the cleavage of L-selectin during the process of guiding neutrophils to the site of infection. Proteolytic cleavage of L-selectin results in rapid shedding from the cell surface, which has a role in neutrophil rolling and accumulation at the site of infection.\n", + " definition of HP:0410251 (Abnormal L-selectin shedding)\n", + " \n", + " \n", + " Coronal cleft vertebrae\n", + " definition of HP:0003417 (Coronal cleft vertebrae)\n", + " \n", + " \n", + " Frontal schisis (cleft or cleavage) of vertebral bodies.\n", + " definition of HP:0003417 (Coronal cleft vertebrae)\n", + " \n", + " \n", + " #coronal cleft of vertebrae #Coronal clefts #Coronal vertebral clefts #Vertebral coronal clefts\n", + " definition of HP:0003417 (Coronal cleft vertebrae)\n", + " \n", + " \n", + " Diverticulosis of trachea\n", + " definition of HP:0006509 (Diverticulosis of trachea)\n", + " \n", + " \n", + " Tracheal diverticula are blind-ended outpouchings arising from the trachea. They are usually an incidental finding. Occasionally they can mimic pneumomediastinum. Tracheal diverticula are either congenital or acquired, in the latter case the most common causes are prolonged increased intraluminal pressure, e.g. chronic cough, COPD, tracheomalacia, and iatrogenic (e.g. post-surgical).\n", + " definition of HP:0006509 (Diverticulosis of trachea)\n", + " \n", + " \n", + " #Tracheal diverticulosis #Tracheal diverticulum #Tracheocele\n", + " definition of HP:0006509 (Diverticulosis of trachea)\n", + " \n", + " \n", + " Abnormal morphology of the chest musculature\n", + " definition of HP:0410167 (Abnormal morphology of the chest musculature)\n", + " \n", + " \n", + " Any abnormality of the chest muscles.\n", + " definition of HP:0410167 (Abnormal morphology of the chest musculature)\n", + " \n", + " \n", + " #Abnormality of the chest musculature\n", + " definition of HP:0410167 (Abnormal morphology of the chest musculature)\n", + " \n", + " \n", + " Bracket metacarpal epiphyses\n", + " definition of HP:0200050 (Bracket metacarpal epiphyses)\n", + " \n", + " \n", + " #Bracket shaped end part of long bone of hand\n", + " definition of HP:0200050 (Bracket metacarpal epiphyses)\n", + " \n", + " \n", + " Pulmonary capillary hemangiomatosis\n", + " definition of HP:0005954 (Pulmonary capillary hemangiomatosis)\n", + " \n", + " \n", + " #Pulmonary hemangiomas\n", + " definition of HP:0005954 (Pulmonary capillary hemangiomatosis)\n", + " \n", + " \n", + " Abnormal CSF homovanillic acid concentration\n", + " definition of HP:0034200 (Abnormal CSF homovanillic acid concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine.\n", + " definition of HP:0034200 (Abnormal CSF homovanillic acid concentration)\n", + " \n", + " \n", + " Refractory anemia\n", + " definition of HP:0005505 (Refractory anemia)\n", + " \n", + " \n", + " #Refractory anaemia\n", + " definition of HP:0005505 (Refractory anemia)\n", + " \n", + " \n", + " Abnormal cerebellum morphology\n", + " definition of HP:0001317 (Abnormal cerebellum morphology)\n", + " \n", + " \n", + " Any structural abnormality of the cerebellum.\n", + " definition of HP:0001317 (Abnormal cerebellum morphology)\n", + " \n", + " \n", + " #Abnormality of the cerebellum #Cerebellar abnormalities #Cerebellar abnormality #Cerebellar anomaly #Cerebellar signs\n", + " definition of HP:0001317 (Abnormal cerebellum morphology)\n", + " \n", + " \n", + " Abnormal concentration of acylcarnitine in the urine\n", + " definition of HP:0500170 (Abnormal concentration of acylcarnitine in the urine)\n", + " \n", + " \n", + " An abnormal amount of acylcarnitine in the urine.\n", + " definition of HP:0500170 (Abnormal concentration of acylcarnitine in the urine)\n", + " \n", + " \n", + " Reduced leukocyte arylsulfatase B activity\n", + " definition of HP:0034861 (Reduced leukocyte arylsulfatase B activity)\n", + " \n", + " \n", + " Concentration or activity of an arylsulfatase B as measured in leukocytes is below the limits of normal.\n", + " definition of HP:0034861 (Reduced leukocyte arylsulfatase B activity)\n", + " \n", + " \n", + " Unusual CNS infection\n", + " definition of HP:0011450 (Unusual CNS infection)\n", + " \n", + " \n", + " A type of infection of the central nervous system that can be regarded as a sign of a pathological susceptibility to infection.\n", + " definition of HP:0011450 (Unusual CNS infection)\n", + " \n", + " \n", + " #Central nervous system infection\n", + " definition of HP:0011450 (Unusual CNS infection)\n", + " \n", + " \n", + " Flattened, squared-off epiphyses of tubular bones\n", + " definition of HP:0006172 (Flattened, squared-off epiphyses of tubular bones)\n", + " \n", + " \n", + " #Flattened, squared-off end part of tubular bones\n", + " definition of HP:0006172 (Flattened, squared-off epiphyses of tubular bones)\n", + " \n", + " \n", + " Broad ischia\n", + " definition of HP:0100865 (Broad ischia)\n", + " \n", + " \n", + " Increased width of the ischium, which forms the lower and back part of the hip bone.\n", + " definition of HP:0100865 (Broad ischia)\n", + " \n", + " \n", + " Low self-esteem\n", + " definition of HP:0031469 (Low self-esteem)\n", + " \n", + " \n", + " Persistent, excessively negative, and critical thoughts of one's personal abilities, attributes, or any feature related to the self and self-attitude. The affected individual believes they are a lesser being compared to others in their social peer group.\n", + " definition of HP:0031469 (Low self-esteem)\n", + " \n", + " \n", + " #Worthlessness\n", + " definition of HP:0031469 (Low self-esteem)\n", + " \n", + " \n", + " Epididymal neoplasm\n", + " definition of HP:0030421 (Epididymal neoplasm)\n", + " \n", + " \n", + " A tumor (abnormal growth of tissue) of the epididymis, an duct that transports spermatozoa from the testis to the vas deferens.\n", + " definition of HP:0030421 (Epididymal neoplasm)\n", + " \n", + " \n", + " Distal arthrogryposis\n", + " definition of HP:0005684 (Distal arthrogryposis)\n", + " \n", + " \n", + " An inherited primary limb malformation disorder characterized by congenital contractures of two or more different body areas and without primary neurologic and/or muscle disease that affects limb function.\n", + " definition of HP:0005684 (Distal arthrogryposis)\n", + " \n", + " \n", + " Anomalous origin of the circumflex artery from the right sinus of Valsalva\n", + " definition of HP:0025505 (Anomalous origin of the circumflex artery from the right sinus of Valsalva)\n", + " \n", + " \n", + " The circumflex coronary artery originates from the right aortic sinus of Valsalva.\n", + " definition of HP:0025505 (Anomalous origin of the circumflex artery from the right sinus of Valsalva)\n", + " \n", + " \n", + " Fetal cerebral parenchymal hemorrhage\n", + " definition of HP:0034211 (Fetal cerebral parenchymal hemorrhage)\n", + " \n", + " \n", + " A type of fetal intracranial hemorrhage with bleeding into the parenchyma (tissue) of the brain.\n", + " definition of HP:0034211 (Fetal cerebral parenchymal hemorrhage)\n", + " \n", + " \n", + " Reduced CSF asparagine concentration\n", + " definition of HP:6000408 (Reduced CSF asparagine concentration)\n", + " \n", + " \n", + " The concentration of asparagine in the cerebrospinal fluid (CSF) is below the lower limit of normal.\n", + " definition of HP:6000408 (Reduced CSF asparagine concentration)\n", + " \n", + " \n", + " Hemiretinal vein occlusion\n", + " definition of HP:0020167 (Hemiretinal vein occlusion)\n", + " \n", + " \n", + " A variant of central retinal vein occlusions that involves the superior or inferior half of the retina.\n", + " definition of HP:0020167 (Hemiretinal vein occlusion)\n", + " \n", + " \n", + " Focal aware atonic seizure\n", + " definition of HP:0020218 (Focal aware atonic seizure)\n", + " \n", + " \n", + " A type of focal atonic seizure during which awareness is fully retained throughout.\n", + " definition of HP:0020218 (Focal aware atonic seizure)\n", + " \n", + " \n", + " Emotional hypersensitivity\n", + " definition of HP:0041092 (Emotional hypersensitivity)\n", + " \n", + " \n", + " Heightened emotional reactivity to environmental stimuli, including the emotions of others.\n", + " definition of HP:0041092 (Emotional hypersensitivity)\n", + " \n", + " \n", + " #Emotional reactivity #Highly sensitive #Hypersensitivity #Overly sensitive\n", + " definition of HP:0041092 (Emotional hypersensitivity)\n", + " \n", + " \n", + " Abnormal spermatogenesis\n", + " definition of HP:0008669 (Abnormal spermatogenesis)\n", + " \n", + " \n", + " Incomplete maturation or aberrant formation of the male gametes.\n", + " definition of HP:0008669 (Abnormal spermatogenesis)\n", + " \n", + " \n", + " #Impaired spermatogenesis\n", + " definition of HP:0008669 (Abnormal spermatogenesis)\n", + " \n", + " \n", + " Abnormal preimplantation embryonic development\n", + " definition of HP:0033335 (Abnormal preimplantation embryonic development)\n", + " \n", + " \n", + " An anomaly in the development of the embryo in a stage prior to implantation.\n", + " definition of HP:0033335 (Abnormal preimplantation embryonic development)\n", + " \n", + " \n", + " Pruritis on hand\n", + " definition of HP:0030899 (Pruritis on hand)\n", + " \n", + " \n", + " Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the hand.\n", + " definition of HP:0030899 (Pruritis on hand)\n", + " \n", + " \n", + " Imbalanced hemoglobin synthesis\n", + " definition of HP:0005560 (Imbalanced hemoglobin synthesis)\n", + " \n", + " \n", + " Normal hemoglobin synthesis is characterized by production of equal amounts of alpha and beta globins. This term refers to a deviation from this pattern and is the main characteristic of the various forms of thalassemia.\n", + " definition of HP:0005560 (Imbalanced hemoglobin synthesis)\n", + " \n", + " \n", + " #Imbalanced haemoglobin synthesis #Imbalanced Hb synthesis\n", + " definition of HP:0005560 (Imbalanced hemoglobin synthesis)\n", + " \n", + " \n", + " Broad palm\n", + " definition of HP:0001169 (Broad palm)\n", + " \n", + " \n", + " For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length.\n", + " definition of HP:0001169 (Broad palm)\n", + " \n", + " \n", + " #Broad hand #Broad hands #Broad palm #Wide palm\n", + " definition of HP:0001169 (Broad palm)\n", + " \n", + " \n", + " Broad phalanges of the 4th finger\n", + " definition of HP:0009404 (Broad phalanges of the 4th finger)\n", + " \n", + " \n", + " Increased width of the phalanges of the 4th finger.\n", + " definition of HP:0009404 (Broad phalanges of the 4th finger)\n", + " \n", + " \n", + " #Broad bones of ring finger\n", + " definition of HP:0009404 (Broad phalanges of the 4th finger)\n", + " \n", + " \n", + " Renal magnesium wasting\n", + " definition of HP:0005567 (Renal magnesium wasting)\n", + " \n", + " \n", + " High urine magnesium in the presence of hypomagnesemia.\n", + " definition of HP:0005567 (Renal magnesium wasting)\n", + " \n", + " \n", + " Abnormal biliary tract physiology\n", + " definition of HP:0012439 (Abnormal biliary tract physiology)\n", + " \n", + " \n", + " A functional abnormality of the biliary tree.\n", + " definition of HP:0012439 (Abnormal biliary tract physiology)\n", + " \n", + " \n", + " Recurrent gram-negative bacterial infections\n", + " definition of HP:0005420 (Recurrent gram-negative bacterial infections)\n", + " \n", + " \n", + " Increased susceptibility to infection by gram-negative bacteria, as manifested by a medical history of repeated or frequent infections by these agents.\n", + " definition of HP:0005420 (Recurrent gram-negative bacterial infections)\n", + " \n", + " \n", + " Rheumatoid factor positive\n", + " definition of HP:0002923 (Rheumatoid factor positive)\n", + " \n", + " \n", + " The presence in the serum of an autoantibody directed against the Fc portion of IgG.\n", + " definition of HP:0002923 (Rheumatoid factor positive)\n", + " \n", + " \n", + " Elbow flexion contracture\n", + " definition of HP:0002987 (Elbow flexion contracture)\n", + " \n", + " \n", + " An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position.\n", + " definition of HP:0002987 (Elbow flexion contracture)\n", + " \n", + " \n", + " #Elbow flexion contractures #Elbow flexion deformity #Fixed flexion at the elbow joint\n", + " definition of HP:0002987 (Elbow flexion contracture)\n", + " \n", + " \n", + " Anti-GD1b IgG antibody positivity\n", + " definition of HP:0034126 (Anti-GD1b IgG antibody positivity)\n", + " \n", + " \n", + " The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against GD1b ganglioside.\n", + " definition of HP:0034126 (Anti-GD1b IgG antibody positivity)\n", + " \n", + " \n", + " Single raphe bicuspid aortic valve\n", + " definition of HP:0031118 (Single raphe bicuspid aortic valve)\n", + " \n", + " \n", + " A type of bicuspid aortic valvue (BAV) characterized by the presence of a single raphe that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps, resulting in two leaflets of unequal size.\n", + " definition of HP:0031118 (Single raphe bicuspid aortic valve)\n", + " \n", + " \n", + " Lower lip pit\n", + " definition of HP:0000196 (Lower lip pit)\n", + " \n", + " \n", + " Depression located on the vermilion of the lower lip, usually paramedian.\n", + " definition of HP:0000196 (Lower lip pit)\n", + " \n", + " \n", + " Lack of gonadotropin-releasing hormone pulsatility\n", + " definition of HP:0500013 (Lack of gonadotropin-releasing hormone pulsatility)\n", + " \n", + " \n", + " Secretion of gonadotropin-releasing hormone that does not occur in a pulsatile fashion.\n", + " definition of HP:0500013 (Lack of gonadotropin-releasing hormone pulsatility)\n", + " \n", + " \n", + " #Absence of GnRH pulsatility\n", + " definition of HP:0500013 (Lack of gonadotropin-releasing hormone pulsatility)\n", + " \n", + " \n", + " Neuromyotonia\n", + " definition of HP:0034351 (Neuromyotonia)\n", + " \n", + " \n", + " Peripheral nerve hyperexcitability manifesting as spontaneous discharges originating from motor axons or their terminals, lead to overactivity of muscles, typically manifesting as twitches, cramps and stiffness.\n", + " definition of HP:0034351 (Neuromyotonia)\n", + " \n", + " \n", + " #Peripheral nerve hyperexcitability\n", + " definition of HP:0034351 (Neuromyotonia)\n", + " \n", + " \n", + " Abnormal shape of the palpebral fissure\n", + " definition of HP:0200005 (Abnormal shape of the palpebral fissure)\n", + " \n", + " \n", + " The presence of an abnormal shape of the palpebral fissure.\n", + " definition of HP:0200005 (Abnormal shape of the palpebral fissure)\n", + " \n", + " \n", + " #Abnormal morphology of the palpebral fissure #Abnormal shape of the opening between the eyelids\n", + " definition of HP:0200005 (Abnormal shape of the palpebral fissure)\n", + " \n", + " \n", + " Aplasia of the semicircular canal\n", + " definition of HP:0011381 (Aplasia of the semicircular canal)\n", + " \n", + " \n", + " Absence of the semicircular canal.\n", + " definition of HP:0011381 (Aplasia of the semicircular canal)\n", + " \n", + " \n", + " #Absent semicircular canal\n", + " definition of HP:0011381 (Aplasia of the semicircular canal)\n", + " \n", + " \n", + " Dysgyria with thickened cortex\n", + " definition of HP:0032400 (Dysgyria with thickened cortex)\n", + " \n", + " \n", + " An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation and a thickened cortex intermediate between pachygyria and polymicrogyria.\n", + " definition of HP:0032400 (Dysgyria with thickened cortex)\n", + " \n", + " \n", + " Large posterior fontanelle\n", + " definition of HP:0004491 (Large posterior fontanelle)\n", + " \n", + " \n", + " An enlargement of the posterior fontanelle relative to age-dependent norms.\n", + " definition of HP:0004491 (Large posterior fontanelle)\n", + " \n", + " \n", + " #Large posterior fontanel\n", + " definition of HP:0004491 (Large posterior fontanelle)\n", + " \n", + " \n", + " Moderate generalized osteoporosis\n", + " definition of HP:0005653 (Moderate generalized osteoporosis)\n", + " \n", + " \n", + " Moderate osteoporosis.\n", + " definition of HP:0005653 (Moderate generalized osteoporosis)\n", + " \n", + " \n", + " #Moderate generalised osteoporosis\n", + " definition of HP:0005653 (Moderate generalized osteoporosis)\n", + " \n", + " \n", + " Abnormal genital pigmentation\n", + " definition of HP:0012293 (Abnormal genital pigmentation)\n", + " \n", + " \n", + " An abnormal pigmentation pattern of the external genitalia.\n", + " definition of HP:0012293 (Abnormal genital pigmentation)\n", + " \n", + " \n", + " Decreased middle cerebral artery pulsatility index\n", + " definition of HP:0041095 (Decreased middle cerebral artery pulsatility index)\n", + " \n", + " \n", + " Abnormally reduced blood flow pulsatility in in the middle cerebral artery (MCA). The pulsatility index (PI) is calculated using the following equation PI = (peak systolic velocity-end-diastolic velocity)/mean velocity.\n", + " definition of HP:0041095 (Decreased middle cerebral artery pulsatility index)\n", + " \n", + " \n", + " Femoral arterial calcification\n", + " definition of HP:0031303 (Femoral arterial calcification)\n", + " \n", + " \n", + " An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the femoral artery.\n", + " definition of HP:0031303 (Femoral arterial calcification)\n", + " \n", + " \n", + " Anti-carbonic anhydrase II antibody positivity\n", + " definition of HP:0033394 (Anti-carbonic anhydrase II antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against carbonic anhydrase II.\n", + " definition of HP:0033394 (Anti-carbonic anhydrase II antibody positivity)\n", + " \n", + " \n", + " Osteoporotic humerus\n", + " definition of HP:0003876 (Osteoporotic humerus)\n", + " \n", + " \n", + " Abnormality morphology of the macular vasculature\n", + " definition of HP:0030495 (Abnormality morphology of the macular vasculature)\n", + " \n", + " \n", + " Any structural anomaly of the blood vessels of the macula.\n", + " definition of HP:0030495 (Abnormality morphology of the macular vasculature)\n", + " \n", + " \n", + " #Abnormality of macular vasculature\n", + " definition of HP:0030495 (Abnormality morphology of the macular vasculature)\n", + " \n", + " \n", + " Intraventricular arachnoid cyst\n", + " definition of HP:0012488 (Intraventricular arachnoid cyst)\n", + " \n", + " \n", + " An arachnoid cyst located within the ventricular system.\n", + " definition of HP:0012488 (Intraventricular arachnoid cyst)\n", + " \n", + " \n", + " Generalized non-convulsive status epilepticus without coma\n", + " definition of HP:0032860 (Generalized non-convulsive status epilepticus without coma)\n", + " \n", + " \n", + " Generalized non-convulsive status epilepticus without coma is a type of status epilepticus without prominent motor signs, which is electrographically generalized. It is a prolonged absence seizure.\n", + " definition of HP:0032860 (Generalized non-convulsive status epilepticus without coma)\n", + " \n", + " \n", + " #Absence status epilepticus #Generalised non-convulsive status epilepticus without coma #Petit mal status epilepticus\n", + " definition of HP:0032860 (Generalized non-convulsive status epilepticus without coma)\n", + " \n", + " \n", + " Open bite\n", + " definition of HP:0010807 (Open bite)\n", + " \n", + " \n", + " Visible space between the dental arches in occlusion.\n", + " definition of HP:0010807 (Open bite)\n", + " \n", + " \n", + " #Absence of overlap of upper and lower teeth #Open bite #Open bite between upper and lower teeth\n", + " definition of HP:0010807 (Open bite)\n", + " \n", + " \n", + " Decreased circulating free fatty acid level\n", + " definition of HP:0040299 (Decreased circulating free fatty acid level)\n", + " \n", + " \n", + " #Low fatty acids level\n", + " definition of HP:0040299 (Decreased circulating free fatty acid level)\n", + " \n", + " \n", + " Increased level of D-threitol in plasma\n", + " definition of HP:0410057 (Increased level of D-threitol in plasma)\n", + " \n", + " \n", + " An increase in the level of D-threitol in the plasma.\n", + " definition of HP:0410057 (Increased level of D-threitol in plasma)\n", + " \n", + " \n", + " Wrist flexion contracture\n", + " definition of HP:0001239 (Wrist flexion contracture)\n", + " \n", + " \n", + " A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist.\n", + " definition of HP:0001239 (Wrist flexion contracture)\n", + " \n", + " \n", + " #Wrist contracture #Wrist flexion deformity\n", + " definition of HP:0001239 (Wrist flexion contracture)\n", + " \n", + " \n", + " Elevated urinary 2-hydroxybutyric acid\n", + " definition of HP:0033409 (Elevated urinary 2-hydroxybutyric acid)\n", + " \n", + " \n", + " An increased amount of 2-hydroxybutyric acid in the urine.\n", + " definition of HP:0033409 (Elevated urinary 2-hydroxybutyric acid)\n", + " \n", + " \n", + " Neutrophil nuclear clefts\n", + " definition of HP:0041043 (Neutrophil nuclear clefts)\n", + " \n", + " \n", + " An abnormality of the nucleus of neutrophils, which presents as either a type I nuclear cleft, where the nuclear cleft may show a transition into a round/oval shape. The second type nuclear cleft, which runs perpendicular to the nuclear surface, and this type of cleft might be related to nuclear lobe formation.\n", + " definition of HP:0041043 (Neutrophil nuclear clefts)\n", + " \n", + " \n", + " Head tremor\n", + " definition of HP:0002346 (Head tremor)\n", + " \n", + " \n", + " An unintentional, oscillating to-and-fro muscle movement affecting head movement.\n", + " definition of HP:0002346 (Head tremor)\n", + " \n", + " \n", + " #Head tremor\n", + " definition of HP:0002346 (Head tremor)\n", + " \n", + " \n", + " Propylthiouracil exposure\n", + " definition of HP:6000093 (Propylthiouracil exposure)\n", + " \n", + " \n", + " History of having been treated with propylthiouracil.\n", + " definition of HP:6000093 (Propylthiouracil exposure)\n", + " \n", + " \n", + " #Exposure to propylthiouracil\n", + " definition of HP:6000093 (Propylthiouracil exposure)\n", + " \n", + " \n", + " Sternocleidomastoid amyotrophy\n", + " definition of HP:0012036 (Sternocleidomastoid amyotrophy)\n", + " \n", + " \n", + " Wasting of the sternocleidomastoid muscle, the muscle in the anterior part of the neck that acts to flex and rotate the head.\n", + " definition of HP:0012036 (Sternocleidomastoid amyotrophy)\n", + " \n", + " \n", + " Abnormal skin morphology\n", + " definition of HP:0011121 (Abnormal skin morphology)\n", + " \n", + " \n", + " Any morphological abnormality of the skin.\n", + " definition of HP:0011121 (Abnormal skin morphology)\n", + " \n", + " \n", + " #Abnormal skin morphology #Abnormal skin structure #Abnormality of skin morphology\n", + " definition of HP:0011121 (Abnormal skin morphology)\n", + " \n", + " \n", + " Focal impaired awareness cognitive seizure with anomia\n", + " definition of HP:0032791 (Focal impaired awareness cognitive seizure with anomia)\n", + " \n", + " \n", + " A focal cognitive seizure with anomia characterized by impairment of awareness at some point during the seizure.\n", + " definition of HP:0032791 (Focal impaired awareness cognitive seizure with anomia)\n", + " \n", + " \n", + " Platystencephaly\n", + " definition of HP:0033011 (Platystencephaly)\n", + " \n", + " \n", + " Extreme width of the skull in the occipital region, with anterior narrowing and prognathism.\n", + " definition of HP:0033011 (Platystencephaly)\n", + " \n", + " \n", + " Absent mesencephalon\n", + " definition of HP:0007265 (Absent mesencephalon)\n", + " \n", + " \n", + " Agenesis of the midbrain.\n", + " definition of HP:0007265 (Absent mesencephalon)\n", + " \n", + " \n", + " Collectionism\n", + " definition of HP:0030212 (Collectionism)\n", + " \n", + " \n", + " Excessive or pathological tendency to save and collect possessions.\n", + " definition of HP:0030212 (Collectionism)\n", + " \n", + " \n", + " #Collecting #Compulsive hoarding #Hoarding\n", + " definition of HP:0030212 (Collectionism)\n", + " \n", + " \n", + " Subcutaneous neurofibroma\n", + " definition of HP:0100698 (Subcutaneous neurofibroma)\n", + " \n", + " \n", + " A neurofibroma (benign peripheral nerve sheath tumor) localized in the subcutis (subcutaneous region).\n", + " definition of HP:0100698 (Subcutaneous neurofibroma)\n", + " \n", + " \n", + " Ketonuria\n", + " definition of HP:0002919 (Ketonuria)\n", + " \n", + " \n", + " High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. Ketone bodies are insignificant in the blood and urine of normal individuals in the postprandial or overnight-fasted state.\n", + " definition of HP:0002919 (Ketonuria)\n", + " \n", + " \n", + " #Ketonaciduria #Ketone bodies in urine\n", + " definition of HP:0002919 (Ketonuria)\n", + " \n", + " \n", + " Abnormal incisor morphology\n", + " definition of HP:0011063 (Abnormal incisor morphology)\n", + " \n", + " \n", + " An abnormality of morphology of the incisor tooth.\n", + " definition of HP:0011063 (Abnormal incisor morphology)\n", + " \n", + " \n", + " #Abnormality of incisor morphology #Abnormality of shape of incisor\n", + " definition of HP:0011063 (Abnormal incisor morphology)\n", + " \n", + " \n", + " Elevated CSF N-carbamyl-beta-alanine concentration\n", + " definition of HP:6000210 (Elevated CSF N-carbamyl-beta-alanine concentration)\n", + " \n", + " \n", + " The concentration of N-carbamyl-beta-alanine in the cerebrospinal fluid is above the upper limit of normal.\n", + " definition of HP:6000210 (Elevated CSF N-carbamyl-beta-alanine concentration)\n", + " \n", + " \n", + " #N-carbamyl-beta-alanine high in CSF\n", + " definition of HP:6000210 (Elevated CSF N-carbamyl-beta-alanine concentration)\n", + " \n", + " \n", + " Tibial spur\n", + " definition of HP:0031173 (Tibial spur)\n", + " \n", + " \n", + " A bony projection (spur, osteophyte) originating from the tibia.\n", + " definition of HP:0031173 (Tibial spur)\n", + " \n", + " \n", + " #Spurring of tibiae\n", + " definition of HP:0031173 (Tibial spur)\n", + " \n", + " \n", + " Intracranial neurenteric cyst\n", + " definition of HP:0030727 (Intracranial neurenteric cyst)\n", + " \n", + " \n", + " A neurenteric cyst located within the skull.\n", + " definition of HP:0030727 (Intracranial neurenteric cyst)\n", + " \n", + " \n", + " Subacute\n", + " definition of HP:0011011 (Subacute)\n", + " \n", + " \n", + " Somewhat rapid onset and change of disease manifestations.\n", + " definition of HP:0011011 (Subacute)\n", + " \n", + " \n", + " Lymph-node hemophagocytosis\n", + " definition of HP:0034707 (Lymph-node hemophagocytosis)\n", + " \n", + " \n", + " Phagocytosis of erythrocytes, lymphocytes or other hematopoietic precursors by histiocytes or macrophages in a lymph node.\n", + " definition of HP:0034707 (Lymph-node hemophagocytosis)\n", + " \n", + " \n", + " Pontocerebellar atrophy\n", + " definition of HP:0006879 (Pontocerebellar atrophy)\n", + " \n", + " \n", + " Atrophy affecting the pons and the cerebellum.\n", + " definition of HP:0006879 (Pontocerebellar atrophy)\n", + " \n", + " \n", + " #Cerebellopontine atrophy\n", + " definition of HP:0006879 (Pontocerebellar atrophy)\n", + " \n", + " \n", + " Shortening of all distal phalanges of the fingers\n", + " definition of HP:0006118 (Shortening of all distal phalanges of the fingers)\n", + " \n", + " \n", + " Hypoplasia of all of the distal phalanx of finger.\n", + " definition of HP:0006118 (Shortening of all distal phalanges of the fingers)\n", + " \n", + " \n", + " #Shortening of all outermost bones of the fingers\n", + " definition of HP:0006118 (Shortening of all distal phalanges of the fingers)\n", + " \n", + " \n", + " Triangular epiphyses of the 5th toe\n", + " definition of HP:0100087 (Triangular epiphyses of the 5th toe)\n", + " \n", + " \n", + " #Triangular end part of the little toe bone #Triangular end part of the pinkie toe bone #Triangular end part of the pinky toe bone\n", + " definition of HP:0100087 (Triangular epiphyses of the 5th toe)\n", + " \n", + " \n", + " Delayed ossification of vertebral epiphysis\n", + " definition of HP:0012711 (Delayed ossification of vertebral epiphysis)\n", + " \n", + " \n", + " A delay in the process of formation and maturation of the epiphysis of one or more vertebrae.\n", + " definition of HP:0012711 (Delayed ossification of vertebral epiphysis)\n", + " \n", + " \n", + " Lower limb muscle weakness\n", + " definition of HP:0007340 (Lower limb muscle weakness)\n", + " \n", + " \n", + " Weakness of the muscles of the legs.\n", + " definition of HP:0007340 (Lower limb muscle weakness)\n", + " \n", + " \n", + " #Leg weakness #Lower extremity weakness #Lower limb muscle weakness #Lower limb weakness #Muscle weakness in lower limbs\n", + " definition of HP:0007340 (Lower limb muscle weakness)\n", + " \n", + " \n", + " Platelet antibody positive\n", + " definition of HP:0003454 (Platelet antibody positive)\n", + " \n", + " \n", + " The presence in the serum of autoantibodies directed against thrombocytes.\n", + " definition of HP:0003454 (Platelet antibody positive)\n", + " \n", + " \n", + " #Platelet antibody\n", + " definition of HP:0003454 (Platelet antibody positive)\n", + " \n", + " \n", + " Tracheal rupture\n", + " definition of HP:0034531 (Tracheal rupture)\n", + " \n", + " \n", + " A break or tear in the trachea.\n", + " definition of HP:0034531 (Tracheal rupture)\n", + " \n", + " \n", + " Cerebral vasculitis\n", + " definition of HP:0005318 (Cerebral vasculitis)\n", + " \n", + " \n", + " Inflammation of the blood vessels within the brain.\n", + " definition of HP:0005318 (Cerebral vasculitis)\n", + " \n", + " \n", + " Abnormality of urinary uric acid level\n", + " definition of HP:0012610 (Abnormality of urinary uric acid level)\n", + " \n", + " \n", + " Abnormal amount of urate in the urine.\n", + " definition of HP:0012610 (Abnormality of urinary uric acid level)\n", + " \n", + " \n", + " Bridged sella turcica\n", + " definition of HP:0005449 (Bridged sella turcica)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the phalanges of the 2nd finger\n", + " definition of HP:0009552 (Aplasia/Hypoplasia of the phalanges of the 2nd finger)\n", + " \n", + " \n", + " #Absent/small index finger bone #Absent/underdeveloped index finger bone\n", + " definition of HP:0009552 (Aplasia/Hypoplasia of the phalanges of the 2nd finger)\n", + " \n", + " \n", + " Natal tooth\n", + " definition of HP:0000695 (Natal tooth)\n", + " \n", + " \n", + " A tooth present at birth or erupting within the first month of life.\n", + " definition of HP:0000695 (Natal tooth)\n", + " \n", + " \n", + " #Born with teeth #Natal teeth #Neonatal teeth #Teeth present at birth\n", + " definition of HP:0000695 (Natal tooth)\n", + " \n", + " \n", + " Muscle fiber cytoplasmatic inclusion bodies\n", + " definition of HP:0100303 (Muscle fiber cytoplasmatic inclusion bodies)\n", + " \n", + " \n", + " The presence of inclusion bodies within the cytoplasm of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins.\n", + " definition of HP:0100303 (Muscle fiber cytoplasmatic inclusion bodies)\n", + " \n", + " \n", + " #Muscle fiber cytoplasmic bodies #Muscle fibre cytoplasmatic inclusion bodies #Muscle fibre cytoplasmic bodies\n", + " definition of HP:0100303 (Muscle fiber cytoplasmatic inclusion bodies)\n", + " \n", + " \n", + " Positive bloodstream Tropheryma whippelii nucleic acid test\n", + " definition of HP:6000802 (Positive bloodstream Tropheryma whippelii nucleic acid test)\n", + " \n", + " \n", + " Detection of nucleic acid of Tropheryma whippelii in the blood circulation by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR.\n", + " definition of HP:6000802 (Positive bloodstream Tropheryma whippelii nucleic acid test)\n", + " \n", + " \n", + " Metaphyseal enchondromatosis\n", + " definition of HP:0005868 (Metaphyseal enchondromatosis)\n", + " \n", + " \n", + " An enchondroma is a benign growth of cartilage that develops within the medullary cavity of bone. Enchondromatosis refers to the presence of multiple enchondromas, and this term refers to the presence of multiple enchondromas within the medulla of metaphyseal bone. Radiographically an enchondroma presents a an oval, linear, or pyramidal osteolytic (radiolucent) lesion with well defined margins.\n", + " definition of HP:0005868 (Metaphyseal enchondromatosis)\n", + " \n", + " \n", + " Increased red cell sickling tendency\n", + " definition of HP:0008346 (Increased red cell sickling tendency)\n", + " \n", + " \n", + " #Increased sickling of erythrocytes #Increased sickling of red cells\n", + " definition of HP:0008346 (Increased red cell sickling tendency)\n", + " \n", + " \n", + " Thyroid nodule\n", + " definition of HP:0025388 (Thyroid nodule)\n", + " \n", + " \n", + " A nodular lesion that develops in the thyroid gland. The term \\"thyroid nodule\\" refers to any abnormal growth that forms a lump in the thyroid gland.\n", + " definition of HP:0025388 (Thyroid nodule)\n", + " \n", + " \n", + " Enlarged epiphyses of the 2nd finger\n", + " definition of HP:0009491 (Enlarged epiphyses of the 2nd finger)\n", + " \n", + " \n", + " Abnormally large size of the epiphyses of the 2nd finger with respect to age-dependent norms.\n", + " definition of HP:0009491 (Enlarged epiphyses of the 2nd finger)\n", + " \n", + " \n", + " #Enlarged end part of the index finger\n", + " definition of HP:0009491 (Enlarged epiphyses of the 2nd finger)\n", + " \n", + " \n", + " Trachyonychia\n", + " definition of HP:0030804 (Trachyonychia)\n", + " \n", + " \n", + " Excessive longitudinal ridging that gives the surface of the nail plate a rough appearance. It results from multiple foci of defective keratinization of the proximal nail matrix.\n", + " definition of HP:0030804 (Trachyonychia)\n", + " \n", + " \n", + " Occipital cortical atrophy\n", + " definition of HP:0012105 (Occipital cortical atrophy)\n", + " \n", + " \n", + " Atrophy of the occipital cortex.\n", + " definition of HP:0012105 (Occipital cortical atrophy)\n", + " \n", + " \n", + " Periodic limb movements\n", + " definition of HP:5200295 (Periodic limb movements)\n", + " \n", + " \n", + " Repetitive limb movements during sleep can affect the quality of your sleep.\n", + " definition of HP:5200295 (Periodic limb movements)\n", + " \n", + " \n", + " #Rhythmic limb movements during sleep\n", + " definition of HP:5200295 (Periodic limb movements)\n", + " \n", + " \n", + " Irregular epiphyses of the 5th toe\n", + " definition of HP:0100082 (Irregular epiphyses of the 5th toe)\n", + " \n", + " \n", + " #Irregular end part of the little toe bone #Irregular end part of the pinkie toe bone #Irregular end part of the pinky toe bone\n", + " definition of HP:0100082 (Irregular epiphyses of the 5th toe)\n", + " \n", + " \n", + " Progressive bowing of long bones\n", + " definition of HP:0006383 (Progressive bowing of long bones)\n", + " \n", + " \n", + " Progressive bending or abnormal curvature of a long bone.\n", + " definition of HP:0006383 (Progressive bowing of long bones)\n", + " \n", + " \n", + " Focal perseverative automatism seizure\n", + " definition of HP:0032902 (Focal perseverative automatism seizure)\n", + " \n", + " \n", + " A type of focal automatism seizure characterized by inappropriate continuation of pre-seizure movement or behavior at onset.\n", + " definition of HP:0032902 (Focal perseverative automatism seizure)\n", + " \n", + " \n", + " Irregular epiphysis of the 1st metacarpal\n", + " definition of HP:0010020 (Irregular epiphysis of the 1st metacarpal)\n", + " \n", + " \n", + " Uneven radiographic opacity of the epiphysis of the 1st metacarpal.\n", + " definition of HP:0010020 (Irregular epiphysis of the 1st metacarpal)\n", + " \n", + " \n", + " #Irregular end part of the 1st long bone of hand\n", + " definition of HP:0010020 (Irregular epiphysis of the 1st metacarpal)\n", + " \n", + " \n", + " Linear IgA deposits along the epidermal basement membrane zone\n", + " definition of HP:0031539 (Linear IgA deposits along the epidermal basement membrane zone)\n", + " \n", + " \n", + " Presence of IgA antibodies in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy.\n", + " definition of HP:0031539 (Linear IgA deposits along the epidermal basement membrane zone)\n", + " \n", + " \n", + " Tritanomaly\n", + " definition of HP:0000552 (Tritanomaly)\n", + " \n", + " \n", + " Difficulty distinguishing between yellow and blue, possible related to dysfunction of the S photopigment.\n", + " definition of HP:0000552 (Tritanomaly)\n", + " \n", + " \n", + " #Blue yellow color blindness #Blue yellow colour blindness #Blue-yellow dyschromatopsia #Dyschromatopsia, blue-yellow\n", + " definition of HP:0000552 (Tritanomaly)\n", + " \n", + " \n", + " Osteoma\n", + " definition of HP:0100246 (Osteoma)\n", + " \n", + " \n", + " Osteomas are bony growths found most commonly on the skull and mandible; however, they may occur in any bone of the body. Osteomas do not usually cause clinical problems and do not become malignant.\n", + " definition of HP:0100246 (Osteoma)\n", + " \n", + " \n", + " Patchy sclerosis of the middle phalanx of the 4th toe\n", + " definition of HP:0100462 (Patchy sclerosis of the middle phalanx of the 4th toe)\n", + " \n", + " \n", + " Uneven increase in bone density of the middle phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.\n", + " definition of HP:0100462 (Patchy sclerosis of the middle phalanx of the 4th toe)\n", + " \n", + " \n", + " #Uneven increase in bone density in middle bone of the 4th toe\n", + " definition of HP:0100462 (Patchy sclerosis of the middle phalanx of the 4th toe)\n", + " \n", + " \n", + " Aciduria\n", + " definition of HP:0012072 (Aciduria)\n", + " \n", + " \n", + " Excretion of urine with an acid pH, i.e., having an increased hydrogen ion concentration.\n", + " definition of HP:0012072 (Aciduria)\n", + " \n", + " \n", + " #Acidic urine\n", + " definition of HP:0012072 (Aciduria)\n", + " \n", + " \n", + " Osteolytic defects of the distal phalanx of the 5th finger\n", + " definition of HP:0009242 (Osteolytic defects of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " Dissolution or degeneration of bone tissue of the distal phalanx of the 5th finger.\n", + " definition of HP:0009242 (Osteolytic defects of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " Subepithelial glomerular basement membrane electron dense deposits\n", + " definition of HP:0033501 (Subepithelial glomerular basement membrane electron dense deposits)\n", + " \n", + " \n", + " Prominent glomerular basement membrane (GBM) reflecting a diffuse and relatively uniform increase in thickness (subjective estimate) with exogenous material deposited between the outer (epithelial) aspect of the GBM and the visceral epithelial cell, with varying degrees of incorporation into the GBM.\n", + " definition of HP:0033501 (Subepithelial glomerular basement membrane electron dense deposits)\n", + " \n", + " \n", + " Abnormal morphology of bony orbit of skull\n", + " definition of HP:3000030 (Abnormal morphology of bony orbit of skull)\n", + " \n", + " \n", + " An abnormality of an orbit of skull.\n", + " definition of HP:3000030 (Abnormal morphology of bony orbit of skull)\n", + " \n", + " \n", + " #Abnormality of bones of the orbit of the skull #Abnormality of bony orbit of skull #Abnormality of the bony eye socket #Abnormality of the orbital bones of skull\n", + " definition of HP:3000030 (Abnormal morphology of bony orbit of skull)\n", + " \n", + " \n", + " Elevated urinary methylmalonylcarnitine level\n", + " definition of HP:6000392 (Elevated urinary methylmalonylcarnitine level)\n", + " \n", + " \n", + " The amount of methylmalonylcarnitine in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000392 (Elevated urinary methylmalonylcarnitine level)\n", + " \n", + " \n", + " Triangular shaped proximal phalanx of the 4th finger\n", + " definition of HP:0009315 (Triangular shaped proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " Triangular shaped proximal phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.\n", + " definition of HP:0009315 (Triangular shaped proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " #Triangular shaped innermost bone of the 4th finger #Triangular shaped innermost bone of the ring finger\n", + " definition of HP:0009315 (Triangular shaped proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " Congenital hypothyroidism\n", + " definition of HP:0000851 (Congenital hypothyroidism)\n", + " \n", + " \n", + " A type of hypothyroidism with congenital onset.\n", + " definition of HP:0000851 (Congenital hypothyroidism)\n", + " \n", + " \n", + " #Hypothyroidism, congenital #Underactive thyroid gland from birth\n", + " definition of HP:0000851 (Congenital hypothyroidism)\n", + " \n", + " \n", + " Anterior chamber cells grade 2+\n", + " definition of HP:0025564 (Anterior chamber cells grade 2+)\n", + " \n", + " \n", + " Anterior chamber cells with 16-25 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.\n", + " definition of HP:0025564 (Anterior chamber cells grade 2+)\n", + " \n", + " \n", + " Angular cheilitis\n", + " definition of HP:0030318 (Angular cheilitis)\n", + " \n", + " \n", + " A type of inflammation of the lips involving one or both of the corners of the mouth.\n", + " definition of HP:0030318 (Angular cheilitis)\n", + " \n", + " \n", + " #Angular cheilosis #Angular stomatitis #Commissural cheilitis #Inflammation of corners of the mouth #Inflammation of oral commisures #Red and sore corners of the mouth\n", + " definition of HP:0030318 (Angular cheilitis)\n", + " \n", + " \n", + " Absent ossification of calvaria\n", + " definition of HP:0005623 (Absent ossification of calvaria)\n", + " \n", + " \n", + " Acalvaria is an extremely rare congenital malformation characterized by an absence of flat bones of skull, dura mater, and associated muscles in the presence of normal cranial contents and facial bones.\n", + " definition of HP:0005623 (Absent ossification of calvaria)\n", + " \n", + " \n", + " #Absent bone maturation of skullcap #Absent ossification of skull vault #Acalvaria\n", + " definition of HP:0005623 (Absent ossification of calvaria)\n", + " \n", + " \n", + " Cavitating pulmonary nodule\n", + " definition of HP:0034015 (Cavitating pulmonary nodule)\n", + " \n", + " \n", + " Thick-walled abnormal gas-filled interstitial nodule within a lung.\n", + " definition of HP:0034015 (Cavitating pulmonary nodule)\n", + " \n", + " \n", + " Stenosis of the external auditory canal\n", + " definition of HP:0000402 (Stenosis of the external auditory canal)\n", + " \n", + " \n", + " An abnormal narrowing of the external auditory canal.\n", + " definition of HP:0000402 (Stenosis of the external auditory canal)\n", + " \n", + " \n", + " #External auditory canal stenosis #Narrow auditory canals #Narrow external auditory canals #Narrow external auditory meatus #Narrowing of passageway from outer ear to middle ear #Stenotic external auditory canal\n", + " definition of HP:0000402 (Stenosis of the external auditory canal)\n", + " \n", + " \n", + " Fractured knee\n", + " definition of HP:0041064 (Fractured knee)\n", + " \n", + " \n", + " A partial or complete breakage of the knee.\n", + " definition of HP:0041064 (Fractured knee)\n", + " \n", + " \n", + " #bone knee\n", + " definition of HP:0041064 (Fractured knee)\n", + " \n", + " \n", + " Exacerbated by tobacco use\n", + " definition of HP:0032500 (Exacerbated by tobacco use)\n", + " \n", + " \n", + " Applied to a sign or symptom that is worsened by smoking tobacco products.\n", + " definition of HP:0032500 (Exacerbated by tobacco use)\n", + " \n", + " \n", + " #Aggravated by tobacco use #Exacerbated by smoking #Smoking or tobacco use exacerbates symptoms\n", + " definition of HP:0032500 (Exacerbated by tobacco use)\n", + " \n", + " \n", + " Snapping sensation at metacarpophalangeal joint\n", + " definition of HP:6000298 (Snapping sensation at metacarpophalangeal joint)\n", + " \n", + " \n", + " A feeling of clicking or snapping at the knuckle (metacarpophalangeal joint) upon extension of flexion of the finger.\n", + " definition of HP:6000298 (Snapping sensation at metacarpophalangeal joint)\n", + " \n", + " \n", + " Anti-sp100 antibody positivity\n", + " definition of HP:0034155 (Anti-sp100 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against sp100. Autoantibodies causing the MND pattern are directed against sp100, sp140, promyelocytic leukemia nuclear body proteins (PML) or ubiquitin-like modifier (SUMO) proteins, while in the punctate nuclear envelope pattern, the target antigens are gp210, nucleoporin-62 or laminin B receptor proteins.\n", + " definition of HP:0034155 (Anti-sp100 antibody positivity)\n", + " \n", + " \n", + " Subclavian artery stenosis\n", + " definition of HP:6000038 (Subclavian artery stenosis)\n", + " \n", + " \n", + " Abnormal narrowing of the subclavian artery.\n", + " definition of HP:6000038 (Subclavian artery stenosis)\n", + " \n", + " \n", + " Drug-induced agranulocytosis\n", + " definition of HP:0012235 (Drug-induced agranulocytosis)\n", + " \n", + " \n", + " A type of agranulocytosis related to ingestion of a specific medication.\n", + " definition of HP:0012235 (Drug-induced agranulocytosis)\n", + " \n", + " \n", + " Susceptibility to coronavirus 229e\n", + " definition of HP:0005396 (Susceptibility to coronavirus 229e)\n", + " \n", + " \n", + " Increased susceptibility to coronavirus 229e, as manifested by recurrent episodes of coronavirus 229e.\n", + " definition of HP:0005396 (Susceptibility to coronavirus 229e)\n", + " \n", + " \n", + " Anti-factor XI antibody positivity\n", + " definition of HP:6000497 (Anti-factor XI antibody positivity)\n", + " \n", + " \n", + " The presence of an antibody in the blood circulation that is directed against factor XI.\n", + " definition of HP:6000497 (Anti-factor XI antibody positivity)\n", + " \n", + " \n", + " #Anti-FXI antibody positivity\n", + " definition of HP:6000497 (Anti-factor XI antibody positivity)\n", + " \n", + " \n", + " Slender long bone\n", + " definition of HP:0003100 (Slender long bone)\n", + " \n", + " \n", + " Reduced diameter of a long bone.\n", + " definition of HP:0003100 (Slender long bone)\n", + " \n", + " \n", + " #Gracile long bones #Long bones slender #Slender long bone #Slender, gracile long tubular bones #Thin long bones #Thin, gracile long bones\n", + " definition of HP:0003100 (Slender long bone)\n", + " \n", + " \n", + " Elevated circulating acetone concentration\n", + " definition of HP:0032533 (Elevated circulating acetone concentration)\n", + " \n", + " \n", + " An increased level of acetone in the blood circulation. Acetone is one of the predominant ketone bodies.\n", + " definition of HP:0032533 (Elevated circulating acetone concentration)\n", + " \n", + " \n", + " Dermatological manifestations of systemic disorders\n", + " definition of HP:0001005 (Dermatological manifestations of systemic disorders)\n", + " \n", + " \n", + " Weak extraocular muscles\n", + " definition of HP:0007715 (Weak extraocular muscles)\n", + " \n", + " \n", + " Erosive vitreoretinopathy\n", + " definition of HP:0030673 (Erosive vitreoretinopathy)\n", + " \n", + " \n", + " A form of vitreoretinopathy characterized by thinning (erosion) of the retinal pigment epithelium that permits increased visualization of the choroidal vessels.\n", + " definition of HP:0030673 (Erosive vitreoretinopathy)\n", + " \n", + " \n", + " Triggered by sudden movement\n", + " definition of HP:0025228 (Triggered by sudden movement)\n", + " \n", + " \n", + " Applies to a sign or symptom that is provoked or brought about by a sudden movement.\n", + " definition of HP:0025228 (Triggered by sudden movement)\n", + " \n", + " \n", + " #Kinesigenic #Sudden movement triggered symptoms #Triggered by sudden movement\n", + " definition of HP:0025228 (Triggered by sudden movement)\n", + " \n", + " \n", + " Disc kidney\n", + " definition of HP:0034233 (Disc kidney)\n", + " \n", + " \n", + " A type of cross fused renal ectopia in which kidneys fuse along their medial borders.\n", + " definition of HP:0034233 (Disc kidney)\n", + " \n", + " \n", + " #Type D cross fused renal ectopia\n", + " definition of HP:0034233 (Disc kidney)\n", + " \n", + " \n", + " Anti-HLA-A IgG1 antibody positivity\n", + " definition of HP:0034020 (Anti-HLA-A IgG1 antibody positivity)\n", + " \n", + " \n", + " The presence of IgG1 autoantibodies in the blood circulation that react against a human leukocyte antigen-A (HLA-A).\n", + " definition of HP:0034020 (Anti-HLA-A IgG1 antibody positivity)\n", + " \n", + " \n", + " Elevated circulating vasoactive intestinal peptide concentration\n", + " definition of HP:6000564 (Elevated circulating vasoactive intestinal peptide concentration)\n", + " \n", + " \n", + " The concentration of vasoactive intestinal peptide (VIP) in the blood circulation is above the upper limit of normal.\n", + " definition of HP:6000564 (Elevated circulating vasoactive intestinal peptide concentration)\n", + " \n", + " \n", + " Cutaneous stenosis of the external auditory canal\n", + " definition of HP:0040103 (Cutaneous stenosis of the external auditory canal)\n", + " \n", + " \n", + " Abnormality of fibrinolysis\n", + " definition of HP:0040224 (Abnormality of fibrinolysis)\n", + " \n", + " \n", + " Clinical phenotype characterized by delayed bleeding accelerated break down of blood clot (fibrinolysis)\n", + " definition of HP:0040224 (Abnormality of fibrinolysis)\n", + " \n", + " \n", + " #Abnormality of the fibrinolytic system\n", + " definition of HP:0040224 (Abnormality of fibrinolysis)\n", + " \n", + " \n", + " Superior rectus muscle overaction\n", + " definition of HP:0031745 (Superior rectus muscle overaction)\n", + " \n", + " \n", + " Excessive action of the superior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist.\n", + " definition of HP:0031745 (Superior rectus muscle overaction)\n", + " \n", + " \n", + " Symphalangism affecting the distal phalanx of the 3rd toe\n", + " definition of HP:0100476 (Symphalangism affecting the distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Fused outermost bone of 3rd toe\n", + " definition of HP:0100476 (Symphalangism affecting the distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Dalen Fuchs nodules\n", + " definition of HP:6000710 (Dalen Fuchs nodules)\n", + " \n", + " \n", + " Nodules (yellow-white subretinal pigment epithelium lesions) that form between Bruch's membrane and the retinal pigment epithelium.\n", + " definition of HP:6000710 (Dalen Fuchs nodules)\n", + " \n", + " \n", + " Impaired tandem gait\n", + " definition of HP:0031629 (Impaired tandem gait)\n", + " \n", + " \n", + " Reduced ability to walk in a straight line while placing the feet heel to toe.\n", + " definition of HP:0031629 (Impaired tandem gait)\n", + " \n", + " \n", + " #Clumsy tandem walking\n", + " definition of HP:0031629 (Impaired tandem gait)\n", + " \n", + " \n", + " Diastasis recti\n", + " definition of HP:0001540 (Diastasis recti)\n", + " \n", + " \n", + " A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba).\n", + " definition of HP:0001540 (Diastasis recti)\n", + " \n", + " \n", + " #Gap between large left and right abdominal muscles\n", + " definition of HP:0001540 (Diastasis recti)\n", + " \n", + " \n", + " Reduced factor X activity\n", + " definition of HP:0008321 (Reduced factor X activity)\n", + " \n", + " \n", + " Reduced activity of coagulation factor X. The extrinsic and intrinsic pathways converge at factor X (fX). The extrinsic pathway activates fX by means of d factor VII with its cofactor, tissue factor. The intrinsic pathway activates fX by means of the tenase complex (Ca2+ and factors VIIIa, IXa and X) on the surface of activated platelets. Factor Xa in turn activates prothrombin (factor II) to thrombin (factor IIa).\n", + " definition of HP:0008321 (Reduced factor X activity)\n", + " \n", + " \n", + " #Decreased factor x activity\n", + " definition of HP:0008321 (Reduced factor X activity)\n", + " \n", + " \n", + " Genu recurvatum\n", + " definition of HP:0002816 (Genu recurvatum)\n", + " \n", + " \n", + " An abnormally increased extension of the knee joint, so that the knee can bend backwards.\n", + " definition of HP:0002816 (Genu recurvatum)\n", + " \n", + " \n", + " #Back knee #Genu recurvata #Knee hyperextension\n", + " definition of HP:0002816 (Genu recurvatum)\n", + " \n", + " \n", + " Abnormality of carpal bone ossification\n", + " definition of HP:0006257 (Abnormality of carpal bone ossification)\n", + " \n", + " \n", + " #Abnormal wrist bone maturation\n", + " definition of HP:0006257 (Abnormality of carpal bone ossification)\n", + " \n", + " \n", + " Abnormality of the distal humeral epiphysis\n", + " definition of HP:0010599 (Abnormality of the distal humeral epiphysis)\n", + " \n", + " \n", + " Any abnormality of the distal epiphysis of the humerus.\n", + " definition of HP:0010599 (Abnormality of the distal humeral epiphysis)\n", + " \n", + " \n", + " #Abnormality of the end part of the outermost long bone in upper arm\n", + " definition of HP:0010599 (Abnormality of the distal humeral epiphysis)\n", + " \n", + " \n", + " Patchy sclerosis of finger phalanx\n", + " definition of HP:0009772 (Patchy sclerosis of finger phalanx)\n", + " \n", + " \n", + " Uneven (irregular) increase in bone density of one or more of the phalanges of the hand.\n", + " definition of HP:0009772 (Patchy sclerosis of finger phalanx)\n", + " \n", + " \n", + " #Patchy sclerosis of the phalanges of the hand #Phalangeal sclerosis #Uneven increase in bone density in finger bone\n", + " definition of HP:0009772 (Patchy sclerosis of finger phalanx)\n", + " \n", + " \n", + " Fructose intolerance\n", + " definition of HP:0005973 (Fructose intolerance)\n", + " \n", + " \n", + " Reduced intestinal absorption of fructose. Breath testing after ingestion of fructose has been widely adopted as a standard method of identifying fructose malabsorption and intolerance. A dose of 25 g of fructose dissolved in a 10% solution is generally accepted as the appropriate dose of fructose for clinical use of H2 and CH4 breath testing. High levels of hydrogen in exhaled breath subsequent hours indicate fructose intolerance. Presence of malabsorption and reproduction of symptoms during a breath test provides the best objective evidence and symptom correlation for fructose intolerance.\n", + " definition of HP:0005973 (Fructose intolerance)\n", + " \n", + " \n", + " #Fructose malabsorption\n", + " definition of HP:0005973 (Fructose intolerance)\n", + " \n", + " \n", + " Myelin tomacula\n", + " definition of HP:0030175 (Myelin tomacula)\n", + " \n", + " \n", + " The presence of multiple sausage-shaped swellings of the myelin sheath (The Latin tomaculum means sausage).\n", + " definition of HP:0030175 (Myelin tomacula)\n", + " \n", + " \n", + " #Tomacula\n", + " definition of HP:0030175 (Myelin tomacula)\n", + " \n", + " \n", + " C1-C2 subluxation\n", + " definition of HP:0003320 (C1-C2 subluxation)\n", + " \n", + " \n", + " A partial dislocation of the atlantoaxial joints.\n", + " definition of HP:0003320 (C1-C2 subluxation)\n", + " \n", + " \n", + " Increased urine neutrophil count\n", + " definition of HP:0020134 (Increased urine neutrophil count)\n", + " \n", + " \n", + " Abnormally increased count of neutrophils in urine.\n", + " definition of HP:0020134 (Increased urine neutrophil count)\n", + " \n", + " \n", + " Bilingual aphasia\n", + " definition of HP:0033849 (Bilingual aphasia)\n", + " \n", + " \n", + " The term bilingual aphasia is used to refer to aphasia in persons who speak two or more languages. When a multilingual speaker has aphasia following a stroke, the languages spoken premorbidly may show comparable or differential patterns of impairment. Differential patterns may manifest as greater impairment in one language compared to another, or as differences in the characteristics of aphasia. Clinical reports of bilingual aphasia show dissociations in the processing of the language learned first (L1) and and second (L2), with one language more impaired than the other. Other cases show a pattern of differential recovery where L2 is recovered only after L1. Another pattern is alternating antagonism; i.e., patients access one language in spontaneous speech and inhibit the other language for alternating periods. This term should be used for a type of aphasia in a person who speaks multiple languages in which the impairment is different for different languages.\n", + " definition of HP:0033849 (Bilingual aphasia)\n", + " \n", + " \n", + " Small epiphysis of the proximal phalanx of the 5th toe\n", + " definition of HP:0100232 (Small epiphysis of the proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " #Small end part of the innermost bone of the little toe #Small end part of the innermost bone of the pinkie toe #Small end part of the innermost bone of the pinky toe\n", + " definition of HP:0100232 (Small epiphysis of the proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " Juvenile type testicular granulosa cell tumor\n", + " definition of HP:0034380 (Juvenile type testicular granulosa cell tumor)\n", + " \n", + " \n", + " Juvenile granulosa cell tumor of the testis of neonates and infants is an uncommon lesion frequently associated with abnormal sex chromosome and ambiguous genitalia.\n", + " definition of HP:0034380 (Juvenile type testicular granulosa cell tumor)\n", + " \n", + " \n", + " Absent pituitary stalk\n", + " definition of HP:0034976 (Absent pituitary stalk)\n", + " \n", + " \n", + " A developmental defect characterized by failure to develop of the pituitary stalk. The pituitary stalk, also known as the infundibulum or infundibular stalk, is the connection between the hypothalamus and the pituitary gland.\n", + " definition of HP:0034976 (Absent pituitary stalk)\n", + " \n", + " \n", + " Focal lissencephaly\n", + " definition of HP:0007187 (Focal lissencephaly)\n", + " \n", + " \n", + " A congenital absence of the convolutions of the cerebral cortex and a poorly formed sylvian fissure that affects a particular part of the cortex.\n", + " definition of HP:0007187 (Focal lissencephaly)\n", + " \n", + " \n", + " Sclerosis of finger phalanx\n", + " definition of HP:0100899 (Sclerosis of finger phalanx)\n", + " \n", + " \n", + " An elevation in bone density in one or more phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity.\n", + " definition of HP:0100899 (Sclerosis of finger phalanx)\n", + " \n", + " \n", + " #Increased bone density in the finger bone #Sclerosis of the phalanges of the hand\n", + " definition of HP:0100899 (Sclerosis of finger phalanx)\n", + " \n", + " \n", + " Chronic decreased circulating IgG2\n", + " definition of HP:0041063 (Chronic decreased circulating IgG2)\n", + " \n", + " \n", + " A lasting decrease of immunoglobulin G2 (IgG2) in the blood.\n", + " definition of HP:0041063 (Chronic decreased circulating IgG2)\n", + " \n", + " \n", + " #Chronic decreased IgG2 in blood\n", + " definition of HP:0041063 (Chronic decreased circulating IgG2)\n", + " \n", + " \n", + " Elevated circulating glutathione concentration\n", + " definition of HP:0034456 (Elevated circulating glutathione concentration)\n", + " \n", + " \n", + " An abnormally increased level of glutathione in the blood circulation.\n", + " definition of HP:0034456 (Elevated circulating glutathione concentration)\n", + " \n", + " \n", + " #Glutathione high in blood\n", + " definition of HP:0034456 (Elevated circulating glutathione concentration)\n", + " \n", + " \n", + " Elevated fractional excretion of urate\n", + " definition of HP:6000746 (Elevated fractional excretion of urate)\n", + " \n", + " \n", + " Abnormally increased proportion of filtered urate that is excreted in the urine as calculated using the concentrations of urate and creatinine in both blood and urine. Clinically this manifests as uric acid wasting.\n", + " definition of HP:6000746 (Elevated fractional excretion of urate)\n", + " \n", + " \n", + " #Uric acid wasting\n", + " definition of HP:6000746 (Elevated fractional excretion of urate)\n", + " \n", + " \n", + " Absent muscle fiber calpain-3\n", + " definition of HP:0030120 (Absent muscle fiber calpain-3)\n", + " \n", + " \n", + " Western blot shows complete lack of calpain-3 protein in the muscle biopsy tissue.\n", + " definition of HP:0030120 (Absent muscle fiber calpain-3)\n", + " \n", + " \n", + " #Absent muscle fibre calpain-3\n", + " definition of HP:0030120 (Absent muscle fiber calpain-3)\n", + " \n", + " \n", + " Cone-shaped epiphysis of the distal phalanx of the 3rd finger\n", + " definition of HP:0009337 (Cone-shaped epiphysis of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " A cone-shaped appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.\n", + " definition of HP:0009337 (Cone-shaped epiphysis of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Cone-shaped end part of the outermost bone of the middle finger\n", + " definition of HP:0009337 (Cone-shaped epiphysis of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Myoclonic spasms\n", + " definition of HP:0003739 (Myoclonic spasms)\n", + " \n", + " \n", + " Paranoia\n", + " definition of HP:0011999 (Paranoia)\n", + " \n", + " \n", + " The feeling and belief that one is being targeted or is a focus of negative or untoward actions, overt or covert, from others. The affected individual expresses a concern that people are in general against the individual and are engaging in subtle behaviors to make things difficult for them. The origins of such thinking may arise from real events and become amplified over time. Paranoia may also arise in the absence of any action or interaction between the person and their environment.\n", + " definition of HP:0011999 (Paranoia)\n", + " \n", + " \n", + " #Paranoia\n", + " definition of HP:0011999 (Paranoia)\n", + " \n", + " \n", + " Progressive sensorineural hearing impairment\n", + " definition of HP:0000408 (Progressive sensorineural hearing impairment)\n", + " \n", + " \n", + " A progressive form of sensorineural hearing impairment.\n", + " definition of HP:0000408 (Progressive sensorineural hearing impairment)\n", + " \n", + " \n", + " #Bilateral progressive sensorineural hearing loss #Hearing loss, progressive sensorineural #Hearing loss, sensorineural, bilateral, progressive #Hearing loss, sensorineural, progressive #Progressive bilateral sensorineural hearing loss #Sensorineural hearing loss, progressive\n", + " definition of HP:0000408 (Progressive sensorineural hearing impairment)\n", + " \n", + " \n", + " Nodular-random pattern on pulmonary HRCT\n", + " definition of HP:0025400 (Nodular-random pattern on pulmonary HRCT)\n", + " \n", + " \n", + " A nodular pattern on pulmonary high-resolution computed tomography that has an apparently random pattern.\n", + " definition of HP:0025400 (Nodular-random pattern on pulmonary HRCT)\n", + " \n", + " \n", + " Osteolysis of talus\n", + " definition of HP:0008095 (Osteolysis of talus)\n", + " \n", + " \n", + " Osteolysis affecting the talus.\n", + " definition of HP:0008095 (Osteolysis of talus)\n", + " \n", + " \n", + " #Osteolysis of tali\n", + " definition of HP:0008095 (Osteolysis of talus)\n", + " \n", + " \n", + " Parietal cortical atrophy\n", + " definition of HP:0012104 (Parietal cortical atrophy)\n", + " \n", + " \n", + " Atrophy of the parietal cortex.\n", + " definition of HP:0012104 (Parietal cortical atrophy)\n", + " \n", + " \n", + " Inferior vena cava obstruction\n", + " definition of HP:6000417 (Inferior vena cava obstruction)\n", + " \n", + " \n", + " Physical invasion or compression of the inferior vena cava by a pathological process or by thrombosis within the vein itself.\n", + " definition of HP:6000417 (Inferior vena cava obstruction)\n", + " \n", + " \n", + " Slender metacarpals\n", + " definition of HP:0006236 (Slender metacarpals)\n", + " \n", + " \n", + " Decreased width of the metacarpal bones (that is, reduced diameter).\n", + " definition of HP:0006236 (Slender metacarpals)\n", + " \n", + " \n", + " #Slender long bones of hand\n", + " definition of HP:0006236 (Slender metacarpals)\n", + " \n", + " \n", + " Thick oral frenulum\n", + " definition of HP:0034414 (Thick oral frenulum)\n", + " \n", + " \n", + " Increased thickness of an oral frenulum, flaps of mucous membrane that extend from the midline gingiva to the upper or lower lip.\n", + " definition of HP:0034414 (Thick oral frenulum)\n", + " \n", + " \n", + " #oral frenulum, thick\n", + " definition of HP:0034414 (Thick oral frenulum)\n", + " \n", + " \n", + " Abnormal urinary odor\n", + " definition of HP:0012088 (Abnormal urinary odor)\n", + " \n", + " \n", + " A deviation from the normal odor of the urine.\n", + " definition of HP:0012088 (Abnormal urinary odor)\n", + " \n", + " \n", + " #Abnormal urinary odor #Abnormal urine smell\n", + " definition of HP:0012088 (Abnormal urinary odor)\n", + " \n", + " \n", + " Late systolic murmur\n", + " definition of HP:0031666 (Late systolic murmur)\n", + " \n", + " \n", + " A murmur that occurs in the latter phase of systole.\n", + " definition of HP:0031666 (Late systolic murmur)\n", + " \n", + " \n", + " Aplasia of the femoral neck\n", + " definition of HP:0100863 (Aplasia of the femoral neck)\n", + " \n", + " \n", + " #Absent neck of thighbone\n", + " definition of HP:0100863 (Aplasia of the femoral neck)\n", + " \n", + " \n", + " Abnormal circulating proteinogenic amino acid concentration\n", + " definition of HP:0033107 (Abnormal circulating proteinogenic amino acid concentration)\n", + " \n", + " \n", + " An elevated level of a proteinogenic amino acid in the blood circulation. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine.\n", + " definition of HP:0033107 (Abnormal circulating proteinogenic amino acid concentration)\n", + " \n", + " \n", + " Struvite nephrolithiasis\n", + " definition of HP:0030035 (Struvite nephrolithiasis)\n", + " \n", + " \n", + " Presence of struvite (magnesium ammonium phosphate) containing calculi (kidney stones).\n", + " definition of HP:0030035 (Struvite nephrolithiasis)\n", + " \n", + " \n", + " #Struvite kidney stones\n", + " definition of HP:0030035 (Struvite nephrolithiasis)\n", + " \n", + " \n", + " Potassium-wasting diuretic exposure\n", + " definition of HP:4000179 (Potassium-wasting diuretic exposure)\n", + " \n", + " \n", + " History of having been treated with a potassium-wasting diuretic such as thiazide (chlorothiazide, chlorthalidone, hydrochlorothiazide, indapamide, metolazone) and loop (bumetanide, ethacrynic acid, furosemide, torsemide) diuretics.\n", + " definition of HP:4000179 (Potassium-wasting diuretic exposure)\n", + " \n", + " \n", + " Reduced muscle glycogen phosphorylase activity\n", + " definition of HP:6000358 (Reduced muscle glycogen phosphorylase activity)\n", + " \n", + " \n", + " Activity of the enzyme glycogen phosphorylase in muscle tissue is below the lower limit of normal. Glycogen phosphorylase (EC 2.4.1.1) is also known as amylophosphorylase, muscle phosphorylase a and b, polyphosphorylase, and myophosphorylase.\n", + " definition of HP:6000358 (Reduced muscle glycogen phosphorylase activity)\n", + " \n", + " \n", + " Flared distal fibular metaphysis\n", + " definition of HP:0030309 (Flared distal fibular metaphysis)\n", + " \n", + " \n", + " The presence of a splayed (i.e.,flared) metaphyseal segment of the distal fibula.\n", + " definition of HP:0030309 (Flared distal fibular metaphysis)\n", + " \n", + " \n", + " #Flared outermost wide portion of of calf bone\n", + " definition of HP:0030309 (Flared distal fibular metaphysis)\n", + " \n", + " \n", + " Expiratory air trapping\n", + " definition of HP:0032968 (Expiratory air trapping)\n", + " \n", + " \n", + " Abnormal retention of gas within a lung or part of a lung, as a result of airway obstruction of abnormalities in lung compliance. In the classic presentation, the lung will appear normal at inspiration, but on exhalation, the diseased portions of the lung which have lost connective tissue recoil will remain lucent while the healthy portions of the lung will become more dense due to atelectasis. This helps distinguish it from mosaic attenuation due to patchy fibrosis, as occurs with nonspecific interstitial pneumonia, and in early usual interstitial pneumonitis (the hallmark imaging diagnosis of interstitial lung disease) in which there is no change with inspiration and expiration.\n", + " definition of HP:0032968 (Expiratory air trapping)\n", + " \n", + " \n", + " Torticollis\n", + " definition of HP:0000473 (Torticollis)\n", + " \n", + " \n", + " Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head.\n", + " definition of HP:0000473 (Torticollis)\n", + " \n", + " \n", + " #Cervical dystonia #Loxia #Spasmodic torticollis #Wry neck\n", + " definition of HP:0000473 (Torticollis)\n", + " \n", + " \n", + " Reduced CD95-induced lymphocyte apoptosis\n", + " definition of HP:0033278 (Reduced CD95-induced lymphocyte apoptosis)\n", + " \n", + " \n", + " Reduced amount of programmed cell death in peripheral blood lymphocytes following exposure to CD95 (APO-1/Fas), which is a member of the death receptor family, a subfamily of the TNF-R superfamily. Crosslinking of CD95 with its natural ligand CD95L (CD178) or with agonistic antibodies such as anti-APO-1 induces apoptosis in sensitive cells.\n", + " definition of HP:0033278 (Reduced CD95-induced lymphocyte apoptosis)\n", + " \n", + " \n", + " Greater auricular nerve thickening\n", + " definition of HP:0034347 (Greater auricular nerve thickening)\n", + " \n", + " \n", + " Increase in thickness of the great auricular nerve, a cutaneous nerve of the head. It originates from the cervical plexus, with branches of spinal nerves C2 and C3. Thickening may lead to the nerve being palpable or even visible in this region.\n", + " definition of HP:0034347 (Greater auricular nerve thickening)\n", + " \n", + " \n", + " #Palpable great auricular nerve\n", + " definition of HP:0034347 (Greater auricular nerve thickening)\n", + " \n", + " \n", + " Anti-TRIM9/TRIM67 antibody\n", + " definition of HP:5000036 (Anti-TRIM9/TRIM67 antibody)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against TRIM9/TRIM67.\n", + " definition of HP:5000036 (Anti-TRIM9/TRIM67 antibody)\n", + " \n", + " \n", + " Enlarged platelet dense granules\n", + " definition of HP:0033264 (Enlarged platelet dense granules)\n", + " \n", + " \n", + " Increased size of platelet dense granules.\n", + " definition of HP:0033264 (Enlarged platelet dense granules)\n", + " \n", + " \n", + " Abnormal renal calyx morphology\n", + " definition of HP:0011130 (Abnormal renal calyx morphology)\n", + " \n", + " \n", + " Any abnormality of the morphology of the major calices or minor calices of the kidney.\n", + " definition of HP:0011130 (Abnormal renal calyx morphology)\n", + " \n", + " \n", + " #Abnormality of renal calyx morphology\n", + " definition of HP:0011130 (Abnormal renal calyx morphology)\n", + " \n", + " \n", + " Abnormal circulating aspartate family amino acid concentration\n", + " definition of HP:0010899 (Abnormal circulating aspartate family amino acid concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of an aspartate family amino acid in the blood circulation.\n", + " definition of HP:0010899 (Abnormal circulating aspartate family amino acid concentration)\n", + " \n", + " \n", + " Focal impaired awareness motor seizure with negative myoclonus\n", + " definition of HP:0032858 (Focal impaired awareness motor seizure with negative myoclonus)\n", + " \n", + " \n", + " A focal motor seizure with negative myoclonus characterized by impairment of awareness at some point during the seizure.\n", + " definition of HP:0032858 (Focal impaired awareness motor seizure with negative myoclonus)\n", + " \n", + " \n", + " #Focal motor impaired awareness seizure with negative myoclonus\n", + " definition of HP:0032858 (Focal impaired awareness motor seizure with negative myoclonus)\n", + " \n", + " \n", + " Elevated circulating histamine concentration\n", + " definition of HP:0034446 (Elevated circulating histamine concentration)\n", + " \n", + " \n", + " Increased concentration of histamine in the blood circulation.\n", + " definition of HP:0034446 (Elevated circulating histamine concentration)\n", + " \n", + " \n", + " #Histamine high in blood\n", + " definition of HP:0034446 (Elevated circulating histamine concentration)\n", + " \n", + " \n", + " Dust particle inclusion in alveolar macrophages\n", + " definition of HP:0032985 (Dust particle inclusion in alveolar macrophages)\n", + " \n", + " \n", + " Accumulation of inhaled, nondigestable particles in macrophages.\n", + " definition of HP:0032985 (Dust particle inclusion in alveolar macrophages)\n", + " \n", + " \n", + " Short greater sciatic notch\n", + " definition of HP:0003185 (Short greater sciatic notch)\n", + " \n", + " \n", + " The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the height of the notch.\n", + " definition of HP:0003185 (Short greater sciatic notch)\n", + " \n", + " \n", + " #Short sacroiliac notch #Shortened sacroiliac notches #Small sacroiliac notch\n", + " definition of HP:0003185 (Short greater sciatic notch)\n", + " \n", + " \n", + " Chemosis\n", + " definition of HP:0012375 (Chemosis)\n", + " \n", + " \n", + " Edema (swelling) of the bulbar conjunctiva.\n", + " definition of HP:0012375 (Chemosis)\n", + " \n", + " \n", + " Abnormal humeral ossification\n", + " definition of HP:0012791 (Abnormal humeral ossification)\n", + " \n", + " \n", + " An anomaly of the process of formation of bone in the humerus.\n", + " definition of HP:0012791 (Abnormal humeral ossification)\n", + " \n", + " \n", + " #Abnormal maturation of long bone in upper arm\n", + " definition of HP:0012791 (Abnormal humeral ossification)\n", + " \n", + " \n", + " Elevated CSF neurofilament light chain concentration\n", + " definition of HP:0032928 (Elevated CSF neurofilament light chain concentration)\n", + " \n", + " \n", + " Neurofilament light chain (NfL) is a neuronal cytoplasmic protein highly expressed in large caliber myelinated axons. Its levels increase in cerebrospinal fluid (CSF) and blood proportionally to the degree of axonal damage in a variety of neurological disorders, including inflammatory, neurodegenerative, traumatic and cerebrovascular diseases.\n", + " definition of HP:0032928 (Elevated CSF neurofilament light chain concentration)\n", + " \n", + " \n", + " #Elevated CSF neurofilament light chain\n", + " definition of HP:0032928 (Elevated CSF neurofilament light chain concentration)\n", + " \n", + " \n", + " Abnormal parotid gland morphology\n", + " definition of HP:0000197 (Abnormal parotid gland morphology)\n", + " \n", + " \n", + " Any abnormality of the parotid glands, which are the salivary glands that are located in the subcutaneous tissues of the face overlying the mandibular ramus and anterior and inferior to the external ear.\n", + " definition of HP:0000197 (Abnormal parotid gland morphology)\n", + " \n", + " \n", + " #Abnormality of parotid gland #Anomaly of the parotid gland\n", + " definition of HP:0000197 (Abnormal parotid gland morphology)\n", + " \n", + " \n", + " Pretesticular azoospermia\n", + " definition of HP:0011963 (Pretesticular azoospermia)\n", + " \n", + " \n", + " Absence of any measurable level of sperm in his semen, due to a hypothalamic or pituitary abnormality diagnosed with hypo-gonadotropic-hypogonadism. The diagnosis is made on the basis of low LH and FSH levels and low or normal testosterone levels.\n", + " definition of HP:0011963 (Pretesticular azoospermia)\n", + " \n", + " \n", + " Toe extensor amyotrophy\n", + " definition of HP:0011916 (Toe extensor amyotrophy)\n", + " \n", + " \n", + " Atrophy of the extensor digitorum longus muscles, which mediate extension of the toes.\n", + " definition of HP:0011916 (Toe extensor amyotrophy)\n", + " \n", + " \n", + " EMG abnormality\n", + " definition of HP:0003457 (EMG abnormality)\n", + " \n", + " \n", + " Abnormal results of investigations using electromyography (EMG).\n", + " definition of HP:0003457 (EMG abnormality)\n", + " \n", + " \n", + " #Abnormal electromyography finding #Abnormal EMG #Electromyogram abnormal #EMG abnormalities\n", + " definition of HP:0003457 (EMG abnormality)\n", + " \n", + " \n", + " Aplasia of the distal phalanx of the 2nd finger\n", + " definition of HP:0009565 (Aplasia of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Absent outermost index finger bone #Absent terminal index finger phalanx\n", + " definition of HP:0009565 (Aplasia of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Elevated circulating palmitoleylcarnitine concentration\n", + " definition of HP:0031544 (Elevated circulating palmitoleylcarnitine concentration)\n", + " \n", + " \n", + " An elevated level of propionylcarnitine in the circulation. Propionylcarnitine is present in high abundance in the urine of patients with Methylmalonyl-CoA mutase (MUT) deficiency.\n", + " definition of HP:0031544 (Elevated circulating palmitoleylcarnitine concentration)\n", + " \n", + " \n", + " #Elevated circulating O-propionylcarnitine concentration #Elevated plasma palmitoleylcarnitine, C16:1 #Elevated plasma propionylcarnitine, C3:0 #Elevated propionylcarnitine level\n", + " definition of HP:0031544 (Elevated circulating palmitoleylcarnitine concentration)\n", + " \n", + " \n", + " Eye poking\n", + " definition of HP:0001483 (Eye poking)\n", + " \n", + " \n", + " Repetitive pressing, poking, and/or rubbing in the eyes.\n", + " definition of HP:0001483 (Eye poking)\n", + " \n", + " \n", + " #Blindism #Eye pressing #Ocular auto-stimulation #Oculodigital phenomenon\n", + " definition of HP:0001483 (Eye poking)\n", + " \n", + " \n", + " Elevated circulating o-phosphoserine concentration\n", + " definition of HP:0033356 (Elevated circulating o-phosphoserine concentration)\n", + " \n", + " \n", + " An abnormally increased level of o-phosphoserine in the blood circulation. o-phosphoserine is a derivative of serine.\n", + " definition of HP:0033356 (Elevated circulating o-phosphoserine concentration)\n", + " \n", + " \n", + " Bitemporal hemianopia\n", + " definition of HP:0030521 (Bitemporal hemianopia)\n", + " \n", + " \n", + " Hand apraxia\n", + " definition of HP:0032588 (Hand apraxia)\n", + " \n", + " \n", + " Inability to perform purposeful (learned) movements with the hand upon command, even though the command is understood and there is a willingness to perform the movement. Hand apraxia includes the inability to grasp, pick up, and hold large and small objects.\n", + " definition of HP:0032588 (Hand apraxia)\n", + " \n", + " \n", + " #Lack of purposeful hand use\n", + " definition of HP:0032588 (Hand apraxia)\n", + " \n", + " \n", + " Anomalous splenoportal venous system\n", + " definition of HP:0005201 (Anomalous splenoportal venous system)\n", + " \n", + " \n", + " Multifocal hypointensity of cerebral white matter on MRI\n", + " definition of HP:0040332 (Multifocal hypointensity of cerebral white matter on MRI)\n", + " \n", + " \n", + " Exercise-induced hemolysis\n", + " definition of HP:0005535 (Exercise-induced hemolysis)\n", + " \n", + " \n", + " A form of hemolytic anemia that can be triggered by exertion.\n", + " definition of HP:0005535 (Exercise-induced hemolysis)\n", + " \n", + " \n", + " Defective production of NFKB1-dependent cytokines\n", + " definition of HP:0011114 (Defective production of NFKB1-dependent cytokines)\n", + " \n", + " \n", + " An impairment in the production by leukocytes of NFKB1-dependent cytokines such as tumor necrosis factor-alpha and interferon-alpha.\n", + " definition of HP:0011114 (Defective production of NFKB1-dependent cytokines)\n", + " \n", + " \n", + " Midclavicular aplasia\n", + " definition of HP:0006638 (Midclavicular aplasia)\n", + " \n", + " \n", + " Developmental defect resulting in congenital absence of the middle portion of the clavicle.\n", + " definition of HP:0006638 (Midclavicular aplasia)\n", + " \n", + " \n", + " #Missing middle part of collarbone\n", + " definition of HP:0006638 (Midclavicular aplasia)\n", + " \n", + " \n", + " Vacuolated hepatocytes\n", + " definition of HP:0034718 (Vacuolated hepatocytes)\n", + " \n", + " \n", + " Presence of vacuoles (membrane-bound organelles that areempty of cytoplasm, lined with a membrane, and filled with fluid) in hepatocytes, which normally rarely contain vacuoles.\n", + " definition of HP:0034718 (Vacuolated hepatocytes)\n", + " \n", + " \n", + " #Hepatocyte vacuolization\n", + " definition of HP:0034718 (Vacuolated hepatocytes)\n", + " \n", + " \n", + " Common atrium\n", + " definition of HP:0011565 (Common atrium)\n", + " \n", + " \n", + " Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections.\n", + " definition of HP:0011565 (Common atrium)\n", + " \n", + " \n", + " #Single atrium\n", + " definition of HP:0011565 (Common atrium)\n", + " \n", + " \n", + " Abnormal radial metaphysis morphology\n", + " definition of HP:0004015 (Abnormal radial metaphysis morphology)\n", + " \n", + " \n", + " #Abnormality of radial metaphyses\n", + " definition of HP:0004015 (Abnormal radial metaphysis morphology)\n", + " \n", + " \n", + " Hemianopia\n", + " definition of HP:0012377 (Hemianopia)\n", + " \n", + " \n", + " Partial or complete loss of vision in one half of the visual field of one or both eyes.\n", + " definition of HP:0012377 (Hemianopia)\n", + " \n", + " \n", + " #Hemianopsia\n", + " definition of HP:0012377 (Hemianopia)\n", + " \n", + " \n", + " Double first metacarpals\n", + " definition of HP:0005894 (Double first metacarpals)\n", + " \n", + " \n", + " Duplication of the metacarpal I bones.\n", + " definition of HP:0005894 (Double first metacarpals)\n", + " \n", + " \n", + " #Double 1st long bones of hand\n", + " definition of HP:0005894 (Double first metacarpals)\n", + " \n", + " \n", + " Abnormal ciliary body morphology\n", + " definition of HP:0012776 (Abnormal ciliary body morphology)\n", + " \n", + " \n", + " A structural anomaly of the ciliary body.\n", + " definition of HP:0012776 (Abnormal ciliary body morphology)\n", + " \n", + " \n", + " #Abnormality of the ciliary body\n", + " definition of HP:0012776 (Abnormal ciliary body morphology)\n", + " \n", + " \n", + " Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level\n", + " definition of HP:0034565 (Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level)\n", + " \n", + " \n", + " Increased amount of 5-amino-4-imidazolecarboxamide(AICA)-riboside in the urine. AICA-riboside is the dephosphorylated counterpart of AICAR, an intermediate of de novo purine biosynthesis.\n", + " definition of HP:0034565 (Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level)\n", + " \n", + " \n", + " #Elevated urinary AICA-riboside level\n", + " definition of HP:0034565 (Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level)\n", + " \n", + " \n", + " Abnormal 5th finger morphology\n", + " definition of HP:0004207 (Abnormal 5th finger morphology)\n", + " \n", + " \n", + " An abnormality affecting one or both 5th fingers.\n", + " definition of HP:0004207 (Abnormal 5th finger morphology)\n", + " \n", + " \n", + " #Abnormality of the 5th finger #Abnormality of the little finger #Abnormality of the pinkie finger #Abnormality of the pinky finger\n", + " definition of HP:0004207 (Abnormal 5th finger morphology)\n", + " \n", + " \n", + " Abnormal lateral ventricle morphology\n", + " definition of HP:0030047 (Abnormal lateral ventricle morphology)\n", + " \n", + " \n", + " A morphological anomaly of the lateral ventricle.\n", + " definition of HP:0030047 (Abnormal lateral ventricle morphology)\n", + " \n", + " \n", + " #Abnormality of lateral ventricle\n", + " definition of HP:0030047 (Abnormal lateral ventricle morphology)\n", + " \n", + " \n", + " Reduced forced vital capacity\n", + " definition of HP:0032341 (Reduced forced vital capacity)\n", + " \n", + " \n", + " An abnormal reduction in the amount of air a person can expel following maximal inspiration.\n", + " definition of HP:0032341 (Reduced forced vital capacity)\n", + " \n", + " \n", + " #Decreased forced vital capacity #Reduced FVC\n", + " definition of HP:0032341 (Reduced forced vital capacity)\n", + " \n", + " \n", + " Fused lumbar vertebrae\n", + " definition of HP:0030040 (Fused lumbar vertebrae)\n", + " \n", + " \n", + " A congenital anomaly characterized by a joining (fusion) of two or more lumbar vertebral bodies with one another.\n", + " definition of HP:0030040 (Fused lumbar vertebrae)\n", + " \n", + " \n", + " Monostotic fibrous dysplasia\n", + " definition of HP:0010736 (Monostotic fibrous dysplasia)\n", + " \n", + " \n", + " Fibrous dysplasia of the bones were lesions are localized in only one bone.\n", + " definition of HP:0010736 (Monostotic fibrous dysplasia)\n", + " \n", + " \n", + " Avulsion fracture\n", + " definition of HP:4000052 (Avulsion fracture)\n", + " \n", + " \n", + " A type of fracture that is localied near to a a tendon or ligament and a small fragment of bone is separated from the main mass of bone as a result of physical trauma.\n", + " definition of HP:4000052 (Avulsion fracture)\n", + " \n", + " \n", + " Short 5th metacarpal\n", + " definition of HP:0010047 (Short 5th metacarpal)\n", + " \n", + " \n", + " Short fifth metacarpal bone.\n", + " definition of HP:0010047 (Short 5th metacarpal)\n", + " \n", + " \n", + " #Fifth metacarpal hypoplasia #Hypoplastic 5th metacarpal #Short fifth metacarpal #Short fifth metacarpals #Shortened 5th long bone of hand\n", + " definition of HP:0010047 (Short 5th metacarpal)\n", + " \n", + " \n", + " Streak gonad\n", + " definition of HP:0025733 (Streak gonad)\n", + " \n", + " \n", + " A type of gonadal dysgenesis in which the gonadal tissue is underdeveloped and appears as fibrous, streak-like structures instead of fully formed ovaries or testes.\n", + " definition of HP:0025733 (Streak gonad)\n", + " \n", + " \n", + " Allergic rhinitis\n", + " definition of HP:0003193 (Allergic rhinitis)\n", + " \n", + " \n", + " It is characterized by one or more symptoms including sneezing, itching, nasal congestion, and rhinorrhea.\n", + " definition of HP:0003193 (Allergic rhinitis)\n", + " \n", + " \n", + " #Hay fever #Hayfever\n", + " definition of HP:0003193 (Allergic rhinitis)\n", + " \n", + " \n", + " Congenital generalized lipodystrophy\n", + " definition of HP:0009059 (Congenital generalized lipodystrophy)\n", + " \n", + " \n", + " #Congenital generalised lipodystrophy\n", + " definition of HP:0009059 (Congenital generalized lipodystrophy)\n", + " \n", + " \n", + " Post-vaccination polio\n", + " definition of HP:0020090 (Post-vaccination polio)\n", + " \n", + " \n", + " Infection with live attenuated polio vaccine following vaccination. This is an extremely rare event that may indicate immunocompromise.\n", + " definition of HP:0020090 (Post-vaccination polio)\n", + " \n", + " \n", + " Distal lower limb muscle weakness\n", + " definition of HP:0009053 (Distal lower limb muscle weakness)\n", + " \n", + " \n", + " Reduced strength of the distal musculature of the legs.\n", + " definition of HP:0009053 (Distal lower limb muscle weakness)\n", + " \n", + " \n", + " #Distal muscle weakness in lower limbs #Muscle weakness, lower limb, distal\n", + " definition of HP:0009053 (Distal lower limb muscle weakness)\n", + " \n", + " \n", + " Patchy osteosclerosis\n", + " definition of HP:0005686 (Patchy osteosclerosis)\n", + " \n", + " \n", + " Patchy (irregular) increase in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays.\n", + " definition of HP:0005686 (Patchy osteosclerosis)\n", + " \n", + " \n", + " #Patchy increase of bone mineral density #Uneven increase in bone density\n", + " definition of HP:0005686 (Patchy osteosclerosis)\n", + " \n", + " \n", + " Flattened metacarpal heads\n", + " definition of HP:0011909 (Flattened metacarpal heads)\n", + " \n", + " \n", + " Abnormally flat shape of the heads of the metacarpal bones.\n", + " definition of HP:0011909 (Flattened metacarpal heads)\n", + " \n", + " \n", + " #Flattened head of long bone of hand\n", + " definition of HP:0011909 (Flattened metacarpal heads)\n", + " \n", + " \n", + " Intrahepatic bile duct cysts\n", + " definition of HP:0005209 (Intrahepatic bile duct cysts)\n", + " \n", + " \n", + " The presence of cyst of the intrahepatic bile duct.\n", + " definition of HP:0005209 (Intrahepatic bile duct cysts)\n", + " \n", + " \n", + " Positive urine infectious agent nucleic acid test\n", + " definition of HP:0034889 (Positive urine infectious agent nucleic acid test)\n", + " \n", + " \n", + " Detection of DNA and RNA originating from an infectious agent (bacteria, viruses, parasites and fungi) in the urine.\n", + " definition of HP:0034889 (Positive urine infectious agent nucleic acid test)\n", + " \n", + " \n", + " Papillary dermis eosinophilic hyaline material\n", + " definition of HP:6000656 (Papillary dermis eosinophilic hyaline material)\n", + " \n", + " \n", + " Accumulation of eosinophilic hyaline material observed around the papillary dermis and the blood vessels located in it. The papillary dermis is the uppermost layer of the dermis. It intertwines with the rete ridges of the epidermis and is composed of fine and loosely arranged collagen fibers.\n", + " definition of HP:6000656 (Papillary dermis eosinophilic hyaline material)\n", + " \n", + " \n", + " Absent metatarsal bone\n", + " definition of HP:0010744 (Absent metatarsal bone)\n", + " \n", + " \n", + " A developmental abnormality characterized by the absence (aplasia) of a metatarsal bone.\n", + " definition of HP:0010744 (Absent metatarsal bone)\n", + " \n", + " \n", + " #Absent long bone of foot #Aplasia of the metatarsal bones\n", + " definition of HP:0010744 (Absent metatarsal bone)\n", + " \n", + " \n", + " Bracket epiphysis of the middle phalanx of the 4th finger\n", + " definition of HP:0009215 (Bracket epiphysis of the middle phalanx of the 4th finger)\n", + " \n", + " \n", + " An abnormality of the middle phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.\n", + " definition of HP:0009215 (Bracket epiphysis of the middle phalanx of the 4th finger)\n", + " \n", + " \n", + " #Bracket shaped end part of the middle bone of the ring finger\n", + " definition of HP:0009215 (Bracket epiphysis of the middle phalanx of the 4th finger)\n", + " \n", + " \n", + " Aortopulmonary window\n", + " definition of HP:0011604 (Aortopulmonary window)\n", + " \n", + " \n", + " A congenital anomaly with an abnormal connection between the aorta and the main pulmonary artery resulting in an aortopulmonary shunt.\n", + " definition of HP:0011604 (Aortopulmonary window)\n", + " \n", + " \n", + " Precocious puberty in males\n", + " definition of HP:0008185 (Precocious puberty in males)\n", + " \n", + " \n", + " The onset of puberty before the age of 9 years in boys.\n", + " definition of HP:0008185 (Precocious puberty in males)\n", + " \n", + " \n", + " #Early onset of puberty in males #Male precocious puberty\n", + " definition of HP:0008185 (Precocious puberty in males)\n", + " \n", + " \n", + " Bidirectional ventricular tachycardia\n", + " definition of HP:0034040 (Bidirectional ventricular tachycardia)\n", + " \n", + " \n", + " Bidirectional ventricular tachycardia (BDVT) is a regular ventricular tachyarrhythmia (VT) with two different QRS morphologies alternating at a rate typically between 140 and 180 bpm.\n", + " definition of HP:0034040 (Bidirectional ventricular tachycardia)\n", + " \n", + " \n", + " Male infertility\n", + " definition of HP:0003251 (Male infertility)\n", + " \n", + " \n", + " #Male infertility\n", + " definition of HP:0003251 (Male infertility)\n", + " \n", + " \n", + " Lymphoid nodular hyperplasia\n", + " definition of HP:0032203 (Lymphoid nodular hyperplasia)\n", + " \n", + " \n", + " Lymphoid nodular hyperplasia (LNH) of the terminal ileum and colon has been considered a mucosal response to nonspecific stimuli, most often infections, and consequently has been regarded as a pathophysiologic phenomenon during infancy and childhood. LNH can be ascertained by colonoscopy, whereby a lymphoid nodule is defined as an extruding follicle with a diameter of not more than 2 mm, and LNH is defined as a cluster of not more than 10 of such extruding lymphoid nodules (see Figure 1 of PMID:17368236).\n", + " definition of HP:0032203 (Lymphoid nodular hyperplasia)\n", + " \n", + " \n", + " #Lymphonodular hyperplasia of the colon\n", + " definition of HP:0032203 (Lymphoid nodular hyperplasia)\n", + " \n", + " \n", + " Flared elbow metaphyses\n", + " definition of HP:0003950 (Flared elbow metaphyses)\n", + " \n", + " \n", + " #Flared wide portion of elbow bone\n", + " definition of HP:0003950 (Flared elbow metaphyses)\n", + " \n", + " \n", + " Extra fontanelles\n", + " definition of HP:0012367 (Extra fontanelles)\n", + " \n", + " \n", + " Bony defects situated along the cranial suture lines or at the junction of the bone plates of the skull.\n", + " definition of HP:0012367 (Extra fontanelles)\n", + " \n", + " \n", + " Dysplastic distal radial epiphyses\n", + " definition of HP:0005013 (Dysplastic distal radial epiphyses)\n", + " \n", + " \n", + " Abnormally developed (dysplastic) distal epiphysis of the radius.\n", + " definition of HP:0005013 (Dysplastic distal radial epiphyses)\n", + " \n", + " \n", + " Duplication of the distal phalanx of the 2nd finger\n", + " definition of HP:0009948 (Duplication of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Partial or complete duplication of the distal phalanx of index finger.\n", + " definition of HP:0009948 (Duplication of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Partial/complete duplication of the distal phalanx of the 2nd finger #Partial/complete duplication of the outermost bone of the index finger\n", + " definition of HP:0009948 (Duplication of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Rectourethral fistula\n", + " definition of HP:0025407 (Rectourethral fistula)\n", + " \n", + " \n", + " An abnormal connection (fistula) between the rectum and the urethra.\n", + " definition of HP:0025407 (Rectourethral fistula)\n", + " \n", + " \n", + " #Urethrorectal fistula\n", + " definition of HP:0025407 (Rectourethral fistula)\n", + " \n", + " \n", + " Elevated circulating heptacarboxylporphyrin concentration\n", + " definition of HP:6000698 (Elevated circulating heptacarboxylporphyrin concentration)\n", + " \n", + " \n", + " The concentration of heptacarboxylporphyrin in the blood circulation is above the upper limit of normal.\n", + " definition of HP:6000698 (Elevated circulating heptacarboxylporphyrin concentration)\n", + " \n", + " \n", + " Abnormality of the kinin-kallikrein system\n", + " definition of HP:0005559 (Abnormality of the kinin-kallikrein system)\n", + " \n", + " \n", + " Cystinuria\n", + " definition of HP:0003131 (Cystinuria)\n", + " \n", + " \n", + " An increased concentration of cystine in the urine.\n", + " definition of HP:0003131 (Cystinuria)\n", + " \n", + " \n", + " #High urine cystine levels\n", + " definition of HP:0003131 (Cystinuria)\n", + " \n", + " \n", + " Brachiocephalic artery aneurysm\n", + " definition of HP:0034324 (Brachiocephalic artery aneurysm)\n", + " \n", + " \n", + " An abnormal widening (dilatation) of the brachiocephalic artery\n", + " definition of HP:0034324 (Brachiocephalic artery aneurysm)\n", + " \n", + " \n", + " #Dilatated brachiocephalic artery #Innominate artery aneurysm\n", + " definition of HP:0034324 (Brachiocephalic artery aneurysm)\n", + " \n", + " \n", + " Hypoplastic fingernail\n", + " definition of HP:0001804 (Hypoplastic fingernail)\n", + " \n", + " \n", + " Underdevelopment of a fingernail.\n", + " definition of HP:0001804 (Hypoplastic fingernail)\n", + " \n", + " \n", + " #Small fingernail #Underdeveloped fingernail\n", + " definition of HP:0001804 (Hypoplastic fingernail)\n", + " \n", + " \n", + " Pointed chin\n", + " definition of HP:0000307 (Pointed chin)\n", + " \n", + " \n", + " A marked tapering of the lower face to the chin.\n", + " definition of HP:0000307 (Pointed chin)\n", + " \n", + " \n", + " #Pointed chin #Pointed mention region #Pointy chin #Small pointed chin #Witch's chin\n", + " definition of HP:0000307 (Pointed chin)\n", + " \n", + " \n", + " Cerebral white matter agenesis\n", + " definition of HP:0200017 (Cerebral white matter agenesis)\n", + " \n", + " \n", + " Congenital defect with failure of the development of the cerebral white matter.\n", + " definition of HP:0200017 (Cerebral white matter agenesis)\n", + " \n", + " \n", + " #Agenesis of the cerebral white matter #White matter agenesis\n", + " definition of HP:0200017 (Cerebral white matter agenesis)\n", + " \n", + " \n", + " Posterior helix pit\n", + " definition of HP:0008523 (Posterior helix pit)\n", + " \n", + " \n", + " Permanent indentation on the posteromedial aspect of the helix that may be sharply or indistinctly delineated.\n", + " definition of HP:0008523 (Posterior helix pit)\n", + " \n", + " \n", + " #Ear, posterior helical groove #Ear, posterior helical notch #Helix, posterior pit #Indentation in back of outer ear #Pits in posterior aspect of ear helices\n", + " definition of HP:0008523 (Posterior helix pit)\n", + " \n", + " \n", + " Dysmetric vertical saccades\n", + " definition of HP:0032014 (Dysmetric vertical saccades)\n", + " \n", + " \n", + " Inaccurate saccades (rapid movement of the eye between fixation points) in the vertical direction.\n", + " definition of HP:0032014 (Dysmetric vertical saccades)\n", + " \n", + " \n", + " Cornea verticillata\n", + " definition of HP:0500008 (Cornea verticillata)\n", + " \n", + " \n", + " Golden brown or gray deposits with a clockwise, whorl-like distribution in the inferior interpalpebal portion of the cornea.\n", + " definition of HP:0500008 (Cornea verticillata)\n", + " \n", + " \n", + " #Vortex keratopathy\n", + " definition of HP:0500008 (Cornea verticillata)\n", + " \n", + " \n", + " Ectopic ureteral orifice\n", + " definition of HP:6000413 (Ectopic ureteral orifice)\n", + " \n", + " \n", + " Drainage of the ureter on one or both sides into an abnormal location. Normally the ureter drains via the internal ureteral orifice at the trigone of the urinary bladder. Ectopic ureteral orifice can be either intravesical (bladder neck) or, more often, extravesical. Ectopia in women is more frequently found in the urethra and the vaginal vestibule; much less frequently in vagina and in uterus. In men it is mostly found in the posterior urethra; in the male genital tract is very rare.\n", + " definition of HP:6000413 (Ectopic ureteral orifice)\n", + " \n", + " \n", + " Soft, doughy skin\n", + " definition of HP:0001027 (Soft, doughy skin)\n", + " \n", + " \n", + " A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough.\n", + " definition of HP:0001027 (Soft, doughy skin)\n", + " \n", + " \n", + " #Soft, doughy skin\n", + " definition of HP:0001027 (Soft, doughy skin)\n", + " \n", + " \n", + " Metaphyseal spurs\n", + " definition of HP:0005054 (Metaphyseal spurs)\n", + " \n", + " \n", + " Bony outgrowths that extend laterally from the margin of the metaphysis.\n", + " definition of HP:0005054 (Metaphyseal spurs)\n", + " \n", + " \n", + " Choroid plexus cyst\n", + " definition of HP:0002190 (Choroid plexus cyst)\n", + " \n", + " \n", + " A cyst occurring within the choroid plexus within a cerebral ventricle.\n", + " definition of HP:0002190 (Choroid plexus cyst)\n", + " \n", + " \n", + " Short mandibular rami\n", + " definition of HP:0003778 (Short mandibular rami)\n", + " \n", + " \n", + " #Short body and ramus of mandible #Short mandibular ramus #Underdeveloped mandibular rami\n", + " definition of HP:0003778 (Short mandibular rami)\n", + " \n", + " \n", + " Contracture of the metatarsophalangeal joint of the 2nd toe\n", + " definition of HP:0100356 (Contracture of the metatarsophalangeal joint of the 2nd toe)\n", + " \n", + " \n", + " The joint between the second metatarsal and the proximal phalanx of the 2nd toe cannot be straightened actively or passively.\n", + " definition of HP:0100356 (Contracture of the metatarsophalangeal joint of the 2nd toe)\n", + " \n", + " \n", + " Reduced C27 3beta-HSD activity in cultured fibroblasts\n", + " definition of HP:6000825 (Reduced C27 3beta-HSD activity in cultured fibroblasts)\n", + " \n", + " \n", + " Concentration or activity of 3beta-hydroxy-delta5-C27-steroid oxidoreductase (C27 3beta-HSD) as measured in cultured fibroblasts is below the limits of normal.\n", + " definition of HP:6000825 (Reduced C27 3beta-HSD activity in cultured fibroblasts)\n", + " \n", + " \n", + " Abnormality of the middle phalanges of the toes\n", + " definition of HP:0010183 (Abnormality of the middle phalanges of the toes)\n", + " \n", + " \n", + " #Abnormal middle bones of toe\n", + " definition of HP:0010183 (Abnormality of the middle phalanges of the toes)\n", + " \n", + " \n", + " Incomplete partition of the cochlea type I\n", + " definition of HP:0011374 (Incomplete partition of the cochlea type I)\n", + " \n", + " \n", + " Incomplete partition I is also known as cystic cochleovestibular malformation, where the cochlea has no bony modiolus, resulting in an empty cystic cochlea. This is accompanied by a dilated cystic vestibule with developmental arrest at the fifth week of gestation.\n", + " definition of HP:0011374 (Incomplete partition of the cochlea type I)\n", + " \n", + " \n", + " Glomerular crescent formation\n", + " definition of HP:0033316 (Glomerular crescent formation)\n", + " \n", + " \n", + " Glomerular crescent refers hyperplastic lesions involving 10% or more of the circumference of Bowman's capsule. Crescents can be composed of a variable mixture of epithelial/leukocyte hypercellularity, fibrous matrix, and fibrin.\n", + " definition of HP:0033316 (Glomerular crescent formation)\n", + " \n", + " \n", + " Epignathus\n", + " definition of HP:0030767 (Epignathus)\n", + " \n", + " \n", + " Epignathus is a teratoma originating from the upper jaw, usually connected with the sphenoid bone or hard palate.\n", + " definition of HP:0030767 (Epignathus)\n", + " \n", + " \n", + " Unusual infection\n", + " definition of HP:0032101 (Unusual infection)\n", + " \n", + " \n", + " A type of infection that is regarded as a sign of a pathological susceptibility to infection. There are five general subtypes. (i) Opportunistic infection, meaning infection by a pathogen that is not normally able to cause infection in a healthy host (e.g., pneumonia by Pneumocystis jirovecii or CMV); (ii) Unusual location (focus) of an infection (e.g., an aspergillus brain abscess); (iii) a protracted course or lack of adequate response to treatment (e.g., chronic rhinosinusitis); (iv) Unusual severity or intensity of an infection; and (v) unusual recurrence of infections.\n", + " definition of HP:0032101 (Unusual infection)\n", + " \n", + " \n", + " Anti-thyroid antibody positivity\n", + " definition of HP:0430050 (Anti-thyroid antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against one or more components on the thyroid.\n", + " definition of HP:0430050 (Anti-thyroid antibody positivity)\n", + " \n", + " \n", + " #Antithyroid antibody positivity\n", + " definition of HP:0430050 (Anti-thyroid antibody positivity)\n", + " \n", + " \n", + " Elevated bronchoalveolar lavage fluid eosinophil proportion\n", + " definition of HP:0032987 (Elevated bronchoalveolar lavage fluid eosinophil proportion)\n", + " \n", + " \n", + " Usually, eosinophils make up less than 0.5% of all cells found in the broncho-alveloar lavage fluid. But in eosinophilic lung disease, the eosinophil cell proportion typically represents more than 25%. Comment: An elevated level of eosinophil cells are also a result of infections, or an allergic reaction or can be drug-induced.\n", + " definition of HP:0032987 (Elevated bronchoalveolar lavage fluid eosinophil proportion)\n", + " \n", + " \n", + " Abnormal CSF isoleucine concentration\n", + " definition of HP:0500192 (Abnormal CSF isoleucine concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of isoleucine in the cerebrospinal fluid.\n", + " definition of HP:0500192 (Abnormal CSF isoleucine concentration)\n", + " \n", + " \n", + " #Abnormal isoleucine levels in cerebrospinal fluid\n", + " definition of HP:0500192 (Abnormal CSF isoleucine concentration)\n", + " \n", + " \n", + " Anti-GT1a IgM antibody positivity\n", + " definition of HP:0034129 (Anti-GT1a IgM antibody positivity)\n", + " \n", + " \n", + " The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against T1a ganglioside.\n", + " definition of HP:0034129 (Anti-GT1a IgM antibody positivity)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the 3rd finger\n", + " definition of HP:0009318 (Aplasia/Hypoplasia of the 3rd finger)\n", + " \n", + " \n", + " A small/hypoplastic or absent/aplastic 3rd (middle) finger.\n", + " definition of HP:0009318 (Aplasia/Hypoplasia of the 3rd finger)\n", + " \n", + " \n", + " #Absent/small middle finger #Absent/underdeveloped middle finger\n", + " definition of HP:0009318 (Aplasia/Hypoplasia of the 3rd finger)\n", + " \n", + " \n", + " Small epiphyses of the 4th toe\n", + " definition of HP:0100074 (Small epiphyses of the 4th toe)\n", + " \n", + " \n", + " #Small end part of the 4th toe bone\n", + " definition of HP:0100074 (Small epiphyses of the 4th toe)\n", + " \n", + " \n", + " Abnormal incus morphology\n", + " definition of HP:0011453 (Abnormal incus morphology)\n", + " \n", + " \n", + " An abnormality of the incus, an ossicle in the middle ear.\n", + " definition of HP:0011453 (Abnormal incus morphology)\n", + " \n", + " \n", + " #Abnormality of the incus\n", + " definition of HP:0011453 (Abnormal incus morphology)\n", + " \n", + " \n", + " Gastroschisis\n", + " definition of HP:0001543 (Gastroschisis)\n", + " \n", + " \n", + " A type of congenital ventral incomplete closure of the abdominal wall in which the intestines and sometimes other organs extend freely into the amniotic fluid space through a small opening in the abdomen, usually to the right of the umbilicus.\n", + " definition of HP:0001543 (Gastroschisis)\n", + " \n", + " \n", + " Abnormal retinal vascular morphology\n", + " definition of HP:0008046 (Abnormal retinal vascular morphology)\n", + " \n", + " \n", + " A structural abnormality of retinal vasculature.\n", + " definition of HP:0008046 (Abnormal retinal vascular morphology)\n", + " \n", + " \n", + " #Abnormality of retina blood vessels #Abnormality of the retinal vasculature\n", + " definition of HP:0008046 (Abnormal retinal vascular morphology)\n", + " \n", + " \n", + " Decreased amniotic fluid alpha-fetoprotein concentration\n", + " definition of HP:0034900 (Decreased amniotic fluid alpha-fetoprotein concentration)\n", + " \n", + " \n", + " Concentration of alpha-fetoprotein in the amniotic fluid below lower limit of normal.\n", + " definition of HP:0034900 (Decreased amniotic fluid alpha-fetoprotein concentration)\n", + " \n", + " \n", + " Eyelid laxity\n", + " definition of HP:0031880 (Eyelid laxity)\n", + " \n", + " \n", + " Abnormally lax eyelid associated with tissue relaxation; it can be demonstrated by the eyelid distraction test and/or the eyelid snap test.\n", + " definition of HP:0031880 (Eyelid laxity)\n", + " \n", + " \n", + " #Lid laxity\n", + " definition of HP:0031880 (Eyelid laxity)\n", + " \n", + " \n", + " Paroxysmal tachycardia\n", + " definition of HP:0006688 (Paroxysmal tachycardia)\n", + " \n", + " \n", + " Asbestos exposure\n", + " definition of HP:4000111 (Asbestos exposure)\n", + " \n", + " \n", + " History of exposure to asbestos, a fibrous mineral with physical and chemical properties that make it resistant to heat and degradation.\n", + " definition of HP:4000111 (Asbestos exposure)\n", + " \n", + " \n", + " Large hamate bone\n", + " definition of HP:0004260 (Large hamate bone)\n", + " \n", + " \n", + " #Large unciform bone\n", + " definition of HP:0004260 (Large hamate bone)\n", + " \n", + " \n", + " Keratoacanthoma\n", + " definition of HP:0031525 (Keratoacanthoma)\n", + " \n", + " \n", + " Keratoacanthoma (KA) is a common benign epithelial tumor that originates from the pilosebaceous glands. In most cases, it is characterized by rapid evolution, followed by spontaneous resolution over 4 to 6 months. KA usually presents as a solitary flesh-coloured nodule with a central keratin plug on the sun-exposed skin of elderly individuals.\n", + " definition of HP:0031525 (Keratoacanthoma)\n", + " \n", + " \n", + " Reduced circulating 4-Hydroxyphenylpyruvate dioxygenase activity\n", + " definition of HP:0003637 (Reduced circulating 4-Hydroxyphenylpyruvate dioxygenase activity)\n", + " \n", + " \n", + " Activity or concentration of 4-hydroxyphenylpyruvate dioxygenase in the blood circulation below the lower limit of normal.\n", + " definition of HP:0003637 (Reduced circulating 4-Hydroxyphenylpyruvate dioxygenase activity)\n", + " \n", + " \n", + " #Reduced 4-Hydroxyphenylpyruvate dioxygenase level #Reducted HPPD activity\n", + " definition of HP:0003637 (Reduced circulating 4-Hydroxyphenylpyruvate dioxygenase activity)\n", + " \n", + " \n", + " Abnormality of the pharynx\n", + " definition of HP:0000600 (Abnormality of the pharynx)\n", + " \n", + " \n", + " An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly.\n", + " definition of HP:0000600 (Abnormality of the pharynx)\n", + " \n", + " \n", + " Symphalangism affecting the middle phalanx of the 4th toe\n", + " definition of HP:0100471 (Symphalangism affecting the middle phalanx of the 4th toe)\n", + " \n", + " \n", + " #Fused middle bones of 4th toe\n", + " definition of HP:0100471 (Symphalangism affecting the middle phalanx of the 4th toe)\n", + " \n", + " \n", + " Epiphyseal stippling of finger phalanges\n", + " definition of HP:0010237 (Epiphyseal stippling of finger phalanges)\n", + " \n", + " \n", + " The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the fingers.\n", + " definition of HP:0010237 (Epiphyseal stippling of finger phalanges)\n", + " \n", + " \n", + " #Speckled calcifications in end part of finger bones #Stippling of the epiphyses of the fingers #Stippling of the epiphyses of the phalanges of the hand\n", + " definition of HP:0010237 (Epiphyseal stippling of finger phalanges)\n", + " \n", + " \n", + " Electrical alternans\n", + " definition of HP:0025078 (Electrical alternans)\n", + " \n", + " \n", + " The QRS complexes of the electrocardiogram alternate in height.\n", + " definition of HP:0025078 (Electrical alternans)\n", + " \n", + " \n", + " Increased fucosylation of N-linked protein glycosylation\n", + " definition of HP:0012354 (Increased fucosylation of N-linked protein glycosylation)\n", + " \n", + " \n", + " Increased addition of fucose sugar units to N-linked glycans.\n", + " definition of HP:0012354 (Increased fucosylation of N-linked protein glycosylation)\n", + " \n", + " \n", + " Elevated circulating dodecenoylcarnitine concentration\n", + " definition of HP:0033153 (Elevated circulating dodecenoylcarnitine concentration)\n", + " \n", + " \n", + " An abnormally increased circulation of dodecenoylcarnitine, C12:1, in the blood circulation.\n", + " definition of HP:0033153 (Elevated circulating dodecenoylcarnitine concentration)\n", + " \n", + " \n", + " #Elevated plasma dodecenoylcarnitine concentration\n", + " definition of HP:0033153 (Elevated circulating dodecenoylcarnitine concentration)\n", + " \n", + " \n", + " Rapidly progressive\n", + " definition of HP:0003678 (Rapidly progressive)\n", + " \n", + " \n", + " Applies to a disease manifestation that quickly increases in scope or severity over the course of time.\n", + " definition of HP:0003678 (Rapidly progressive)\n", + " \n", + " \n", + " #Rapid progression #Worsening quickly\n", + " definition of HP:0003678 (Rapidly progressive)\n", + " \n", + " \n", + " Spontaneous neonatal pneumothorax\n", + " definition of HP:0004876 (Spontaneous neonatal pneumothorax)\n", + " \n", + " \n", + " Pneumothorax occurring neonatally without traumatic injury to the chest or lung.\n", + " definition of HP:0004876 (Spontaneous neonatal pneumothorax)\n", + " \n", + " \n", + " #Neonatal pneumothorax\n", + " definition of HP:0004876 (Spontaneous neonatal pneumothorax)\n", + " \n", + " \n", + " Abnormal cochlea morphology\n", + " definition of HP:0000375 (Abnormal cochlea morphology)\n", + " \n", + " \n", + " An abnormality of the cochlea.\n", + " definition of HP:0000375 (Abnormal cochlea morphology)\n", + " \n", + " \n", + " #Abnormality of cochlea\n", + " definition of HP:0000375 (Abnormal cochlea morphology)\n", + " \n", + " \n", + " Abnormal posterior circulating artery morphology\n", + " definition of HP:0031772 (Abnormal posterior circulating artery morphology)\n", + " \n", + " \n", + " Any structural anomaly of the posterior circulating artery (PCOM).\n", + " definition of HP:0031772 (Abnormal posterior circulating artery morphology)\n", + " \n", + " \n", + " Abnormality of neutrophils\n", + " definition of HP:0001874 (Abnormality of neutrophils)\n", + " \n", + " \n", + " A neutrophil abnormality.\n", + " definition of HP:0001874 (Abnormality of neutrophils)\n", + " \n", + " \n", + " #Abnormality of neutrophil #Abnormality of neutrophils #Abnormality of polymorphonuclear neutrophils\n", + " definition of HP:0001874 (Abnormality of neutrophils)\n", + " \n", + " \n", + " Fractured patella\n", + " definition of HP:0041237 (Fractured patella)\n", + " \n", + " \n", + " A partial or complete breakage of the patella.\n", + " definition of HP:0041237 (Fractured patella)\n", + " \n", + " \n", + " #bone patella\n", + " definition of HP:0041237 (Fractured patella)\n", + " \n", + " \n", + " Nasal ulcer\n", + " definition of HP:0033361 (Nasal ulcer)\n", + " \n", + " \n", + " An open sore of the nasal mucosa.\n", + " definition of HP:0033361 (Nasal ulcer)\n", + " \n", + " \n", + " Increased proportion of memory T cells\n", + " definition of HP:0032184 (Increased proportion of memory T cells)\n", + " \n", + " \n", + " An abnormally elevated proportion of memory T cells compared to the total number of T cells in the blood.\n", + " definition of HP:0032184 (Increased proportion of memory T cells)\n", + " \n", + " \n", + " #Increased proportion of CD4+CD29+ cells\n", + " definition of HP:0032184 (Increased proportion of memory T cells)\n", + " \n", + " \n", + " Forefoot supination contracture\n", + " definition of HP:0034679 (Forefoot supination contracture)\n", + " \n", + " \n", + " Increased airway neuroendocrine cells\n", + " definition of HP:0033377 (Increased airway neuroendocrine cells)\n", + " \n", + " \n", + " Presence of increased numbers of bombesin-immuno-positive neuroendocrine cells (NECs) within distal airways. There are no formal criteria for an increase (which is also dependent on the sensitivity of the staining method), findings of neuroendocrine cells in at least 70% of bronchioles by lung biopsy and at least 10% NECs in an individual airway are consistent with the diagnosis of Neuroendocrine cell hyperplasia of infancy in the appropriate clinical setting. Increases are also seen in other clinical settings. Neuroendocrine neoplasms of the lung encompass NE tumors (NETs), which split into typical and atypical carcinoids, and NE carcinomas (NECs).\n", + " definition of HP:0033377 (Increased airway neuroendocrine cells)\n", + " \n", + " \n", + " Abnormality of the urinary system\n", + " definition of HP:0000079 (Abnormality of the urinary system)\n", + " \n", + " \n", + " An abnormality of the urinary system.\n", + " definition of HP:0000079 (Abnormality of the urinary system)\n", + " \n", + " \n", + " #Urinary tract abnormalities #Urinary tract abnormality #Urinary tract anomalies\n", + " definition of HP:0000079 (Abnormality of the urinary system)\n", + " \n", + " \n", + " Persecutory delusion\n", + " definition of HP:5200415 (Persecutory delusion)\n", + " \n", + " \n", + " False beliefs (or judgements) that are held with extraordinary conviction and subjective certainty that are impervious to other experiences or counterarguments and the content is generally considered impossible for the context and circumstance. Delusional beliefs may arise meaningfully from personal or social experiences, yet are impossible, held with conviction, and irrefutable; more commonly they may be psychologically irreducible, appearing with no logical or meaningful connection to the individual experience.\n", + " definition of HP:5200415 (Persecutory delusion)\n", + " \n", + " \n", + " #Delusion of persecution\n", + " definition of HP:5200415 (Persecutory delusion)\n", + " \n", + " \n", + " Typical atrial flutter\n", + " definition of HP:0031671 (Typical atrial flutter)\n", + " \n", + " \n", + " Typical atrial flutter is an organized atrial tachycardia. It can also be defined as a macroreentrant tachycardia confined to the right atrium. This arrhythmia has a 200-260 ms cycle length, although it may fluctuate depending on patient's previous treatment or ablation, congenital heart disease, etc. Ventricular rate response will be limited by the atrioventricular node conductions, usually presenting a 2:1 or 3:1 response, during atrial flutter. Typical (counter clockwise) flutter is associated with the common flutter pattern: a regular continuous undulation with dominant negative deflections in inferior leads II, III and aVF, often described also as a saw tooth pattern, and flat atrial deflections in leads I and aVL. Atrial deflections in V1 can be positive, biphasic or negative.\n", + " definition of HP:0031671 (Typical atrial flutter)\n", + " \n", + " \n", + " Spasmus nutans\n", + " definition of HP:0010533 (Spasmus nutans)\n", + " \n", + " \n", + " The combination of pendular nystagmus, head nodding, and torticollis.\n", + " definition of HP:0010533 (Spasmus nutans)\n", + " \n", + " \n", + " Abnormality of the epiphysis of the proximal phalanx of the thumb\n", + " definition of HP:0009663 (Abnormality of the epiphysis of the proximal phalanx of the thumb)\n", + " \n", + " \n", + " This term applies if the epiphysis of the proximal phalanx of the thumb, which is located at the proximal end of the phalanx, does not appear in concordance with gender and age dependant norms as seen on x-rays. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.\n", + " definition of HP:0009663 (Abnormality of the epiphysis of the proximal phalanx of the thumb)\n", + " \n", + " \n", + " #Abnormality of end part of thumb innermost long bone\n", + " definition of HP:0009663 (Abnormality of the epiphysis of the proximal phalanx of the thumb)\n", + " \n", + " \n", + " Flame-shaped retinal hemorrhage\n", + " definition of HP:0025241 (Flame-shaped retinal hemorrhage)\n", + " \n", + " \n", + " A type of retinal hemorrhage that is located within the nerve fiber layer (NFL) of the retina and that exhibits a characteristic flame shape which results from constraints by the structure of the NFL (axons of the ganglion cells).\n", + " definition of HP:0025241 (Flame-shaped retinal hemorrhage)\n", + " \n", + " \n", + " #Feathered retinal heme #Flame-shaped retinal haemorrhage #Linear retina heme\n", + " definition of HP:0025241 (Flame-shaped retinal hemorrhage)\n", + " \n", + " \n", + " Reduced tissue aspartylglucosaminidase activity\n", + " definition of HP:6000573 (Reduced tissue aspartylglucosaminidase activity)\n", + " \n", + " \n", + " Activity of aspartylglucosaminidase (AGA; EC 3.5.1.26) in the tissues below the lower limit of normal. AGA activity can be measured in multiple tissues including leukocytes and cultured fibroblasts.\n", + " definition of HP:6000573 (Reduced tissue aspartylglucosaminidase activity)\n", + " \n", + " \n", + " Acute abdomen\n", + " definition of HP:0033400 (Acute abdomen)\n", + " \n", + " \n", + " A sudden onset of abdominal pain with associated nausea or vomiting. The acute abdomen may be caused by an infection, inflammation, vascular occlusion, or obstruction.\n", + " definition of HP:0033400 (Acute abdomen)\n", + " \n", + " \n", + " #Acute abdominal pain\n", + " definition of HP:0033400 (Acute abdomen)\n", + " \n", + " \n", + " Supernumerary tracheal bronchus\n", + " definition of HP:0033617 (Supernumerary tracheal bronchus)\n", + " \n", + " \n", + " Accessory bronchus which exits the trachea in addition to an anatomically normal branching upper lobe bronchus.\n", + " definition of HP:0033617 (Supernumerary tracheal bronchus)\n", + " \n", + " \n", + " Chronic hepatitis\n", + " definition of HP:0200123 (Chronic hepatitis)\n", + " \n", + " \n", + " Hepatitis that lasts for more than six months.\n", + " definition of HP:0200123 (Chronic hepatitis)\n", + " \n", + " \n", + " #Chronic liver inflammation\n", + " definition of HP:0200123 (Chronic hepatitis)\n", + " \n", + " \n", + " Circumoral cyanosis\n", + " definition of HP:0032556 (Circumoral cyanosis)\n", + " \n", + " \n", + " Persistent blue color of the skin that surrounds the mouth.\n", + " definition of HP:0032556 (Circumoral cyanosis)\n", + " \n", + " \n", + " #Bluish around mouth\n", + " definition of HP:0032556 (Circumoral cyanosis)\n", + " \n", + " \n", + " Focal impaired awareness bilateral motor seizure\n", + " definition of HP:0032714 (Focal impaired awareness bilateral motor seizure)\n", + " \n", + " \n", + " A focal bilateral motor seizure characterized by impairment of awareness at some point during the seizure.\n", + " definition of HP:0032714 (Focal impaired awareness bilateral motor seizure)\n", + " \n", + " \n", + " Abnormality of the vestibular nerve\n", + " definition of HP:0011392 (Abnormality of the vestibular nerve)\n", + " \n", + " \n", + " Lack of spontaneous play\n", + " definition of HP:0000721 (Lack of spontaneous play)\n", + " \n", + " \n", + " #Lack of spontaneous play\n", + " definition of HP:0000721 (Lack of spontaneous play)\n", + " \n", + " \n", + " Abnormal palmar dermatoglyphics\n", + " definition of HP:0001018 (Abnormal palmar dermatoglyphics)\n", + " \n", + " \n", + " An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand.\n", + " definition of HP:0001018 (Abnormal palmar dermatoglyphics)\n", + " \n", + " \n", + " Abnormal mitral valve morphology\n", + " definition of HP:0001633 (Abnormal mitral valve morphology)\n", + " \n", + " \n", + " Any structural anomaly of the mitral valve.\n", + " definition of HP:0001633 (Abnormal mitral valve morphology)\n", + " \n", + " \n", + " #Abnormality of the mitral valve\n", + " definition of HP:0001633 (Abnormal mitral valve morphology)\n", + " \n", + " \n", + " Focal autonomic seizure with pupillary dilation/constriction\n", + " definition of HP:0032763 (Focal autonomic seizure with pupillary dilation/constriction)\n", + " \n", + " \n", + " A type of focal autonomic seizure characterized by pupillary dilatation or contraction as the initial semiological feature.\n", + " definition of HP:0032763 (Focal autonomic seizure with pupillary dilation/constriction)\n", + " \n", + " \n", + " Nonketotic hypoglycemia\n", + " definition of HP:0001958 (Nonketotic hypoglycemia)\n", + " \n", + " \n", + " Hip dysplasia\n", + " definition of HP:0001385 (Hip dysplasia)\n", + " \n", + " \n", + " The presence of developmental dysplasia of the hip.\n", + " definition of HP:0001385 (Hip dysplasia)\n", + " \n", + " \n", + " #Congenital hip dysplasia #DDH #Developmental dysplasia of the hip\n", + " definition of HP:0001385 (Hip dysplasia)\n", + " \n", + " \n", + " Elevated umbilical artery pulsatility\n", + " definition of HP:0034223 (Elevated umbilical artery pulsatility)\n", + " \n", + " \n", + " Human umbilical artery (UA) blood flow pulsatility measured by Doppler ultrasound is a widely used biomarker for the detection of elevated placental vascular resistance. Elevated UA pulsatility, which in the most extreme cases manifests as absent or even reversed end-diastolic velocity, is associated with intrauterine growth restriction (IUGR) and still-birth.\n", + " definition of HP:0034223 (Elevated umbilical artery pulsatility)\n", + " \n", + " \n", + " #Elevated umbilical artery Dopplers #Increased umbilical artery pulsatility index\n", + " definition of HP:0034223 (Elevated umbilical artery pulsatility)\n", + " \n", + " \n", + " Minimal subcutaneous fat\n", + " definition of HP:0003717 (Minimal subcutaneous fat)\n", + " \n", + " \n", + " #Minimal fat below the skin\n", + " definition of HP:0003717 (Minimal subcutaneous fat)\n", + " \n", + " \n", + " Inferior lens subluxation\n", + " definition of HP:0008494 (Inferior lens subluxation)\n", + " \n", + " \n", + " Partial displacement of the lens in the inferior direction.\n", + " definition of HP:0008494 (Inferior lens subluxation)\n", + " \n", + " \n", + " #Inferior subluxated lens\n", + " definition of HP:0008494 (Inferior lens subluxation)\n", + " \n", + " \n", + " Abnormality of prothrombin\n", + " definition of HP:0012200 (Abnormality of prothrombin)\n", + " \n", + " \n", + " An anomaly of clotting factor II, which is known as prothrombin, a vitamin K-dependent proenzyme that functions in the blood coagulation cascade.\n", + " definition of HP:0012200 (Abnormality of prothrombin)\n", + " \n", + " \n", + " Abnormality of the distal phalanx of the 3rd finger\n", + " definition of HP:0009357 (Abnormality of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Abnormality of terminal phalanx of middle-finger #Abnormality of the outermost bone of the 3rd finger\n", + " definition of HP:0009357 (Abnormality of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Lentiglobus\n", + " definition of HP:0011527 (Lentiglobus)\n", + " \n", + " \n", + " Exaggerated curvature of the lens of the eye, producing an anterior or posterior spherical bulging.\n", + " definition of HP:0011527 (Lentiglobus)\n", + " \n", + " \n", + " Aplasia of the phalanges of the 5th toe\n", + " definition of HP:0100364 (Aplasia of the phalanges of the 5th toe)\n", + " \n", + " \n", + " #Absent little toe bones #Absent pinkie toe bones #Absent pinky toe bones\n", + " definition of HP:0100364 (Aplasia of the phalanges of the 5th toe)\n", + " \n", + " \n", + " Cutaneous necrosis\n", + " definition of HP:0033126 (Cutaneous necrosis)\n", + " \n", + " \n", + " Skin and subcutaneous tissue necrosis (tissue death). Clinically, cutaneous necrosis may present as a painful and extremely tender black eschar (dead tissue found in a full-thickness wound) surrounded by dusky grey-red colored skin.\n", + " definition of HP:0033126 (Cutaneous necrosis)\n", + " \n", + " \n", + " #Skin necrosis\n", + " definition of HP:0033126 (Cutaneous necrosis)\n", + " \n", + " \n", + " Abnormal amyloid beta 42 peptide CSF concentration\n", + " definition of HP:0025683 (Abnormal amyloid beta 42 peptide CSF concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF). Amyloid beta is a peptide of 36-43 amino acids that is processed from the Amyloid precursor protein. ABeta42, which is 42 amino acids in length, is the longer form.\n", + " definition of HP:0025683 (Abnormal amyloid beta 42 peptide CSF concentration)\n", + " \n", + " \n", + " Bacteria allergy\n", + " definition of HP:0410322 (Bacteria allergy)\n", + " \n", + " \n", + " Hypersensitivity in form of an adverse immune reaction against bacteria.\n", + " definition of HP:0410322 (Bacteria allergy)\n", + " \n", + " \n", + " #Allergy to bacteria #Bacteria allergy #IgE-mediated bacteria allergy #Immunoglobulin E-mediated bacteria allergy\n", + " definition of HP:0410322 (Bacteria allergy)\n", + " \n", + " \n", + " Decreased circulating 18-hydroxycortisone level\n", + " definition of HP:0020199 (Decreased circulating 18-hydroxycortisone level)\n", + " \n", + " \n", + " A subnormal concentration of 18-Hydroxycorticosterone level in the blood circulation.\n", + " definition of HP:0020199 (Decreased circulating 18-hydroxycortisone level)\n", + " \n", + " \n", + " Long ear\n", + " definition of HP:0400004 (Long ear)\n", + " \n", + " \n", + " Median longitudinal ear length greater than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear.\n", + " definition of HP:0400004 (Long ear)\n", + " \n", + " \n", + " #Long ear #Long ears\n", + " definition of HP:0400004 (Long ear)\n", + " \n", + " \n", + " Thumb hypoplasia grade 3A\n", + " definition of HP:6000940 (Thumb hypoplasia grade 3A)\n", + " \n", + " \n", + " A type of developmental undergrowth of the thumb, whereby there are musculotendinous and osseous deficiencies with the carpometacarpal (CMC) joint intact. Absence of active motion at the metacarpophalangeal (MCP) or interphalangeal (IP) joint.\n", + " definition of HP:6000940 (Thumb hypoplasia grade 3A)\n", + " \n", + " \n", + " #Hypoplasia of the thumb grade IIIA\n", + " definition of HP:6000940 (Thumb hypoplasia grade 3A)\n", + " \n", + " \n", + " Retinitis pigmentosa inversa\n", + " definition of HP:0008035 (Retinitis pigmentosa inversa)\n", + " \n", + " \n", + " Retinitis pigmentosa inversa is form of retinal degeneration characterized by areas of retinal/chorioretinal degeneration with pigment migration in the macular area (in contrast to retinitis pigmentosa which, at early disease stages, predominantly affects the retinal periphery).\n", + " definition of HP:0008035 (Retinitis pigmentosa inversa)\n", + " \n", + " \n", + " #Central retinitis pigmentosa\n", + " definition of HP:0008035 (Retinitis pigmentosa inversa)\n", + " \n", + " \n", + " Sloping forehead\n", + " definition of HP:0000340 (Sloping forehead)\n", + " \n", + " \n", + " Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view.\n", + " definition of HP:0000340 (Sloping forehead)\n", + " \n", + " \n", + " #Inclined forehead #Posteriorly sloping forehead #Receding forehead #Sloping forehead\n", + " definition of HP:0000340 (Sloping forehead)\n", + " \n", + " \n", + " Vesicovaginal fistula\n", + " definition of HP:0001586 (Vesicovaginal fistula)\n", + " \n", + " \n", + " The presence of a fistula connecting the urinary bladder to the vagina.\n", + " definition of HP:0001586 (Vesicovaginal fistula)\n", + " \n", + " \n", + " Short distal phalanx of the 2nd toe\n", + " definition of HP:0010433 (Short distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Reduced length of the distal phalanx of the second toe as a result of developmental hypoplasia.\n", + " definition of HP:0010433 (Short distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Hypoplastic/small distal phalanx of the 2nd toe #Short distal phalanx of the second toe #Short outermost bone of the 2nd toe\n", + " definition of HP:0010433 (Short distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Abnormal antral follicle count\n", + " definition of HP:0033084 (Abnormal antral follicle count)\n", + " \n", + " \n", + " Any deviation from a count of antral follicles that is normal for age. Antral follicles appear as small fluid-filled sacs that contain an immature egg. Antral follicle count can be measured (usually on day 2-5 of the menstrual cycle) by transvaginal ultrasound. The number of antral follicles may reflect ovarian reserve.\n", + " definition of HP:0033084 (Abnormal antral follicle count)\n", + " \n", + " \n", + " Coronary cameral fistula\n", + " definition of HP:0031560 (Coronary cameral fistula)\n", + " \n", + " \n", + " An abnormal communication between coronary artery and a cardiac chamber.\n", + " definition of HP:0031560 (Coronary cameral fistula)\n", + " \n", + " \n", + " Parotitis\n", + " definition of HP:0011850 (Parotitis)\n", + " \n", + " \n", + " Inflammation of the parotid gland.\n", + " definition of HP:0011850 (Parotitis)\n", + " \n", + " \n", + " Renal arteriole intima/media liquefactive necrosis\n", + " definition of HP:0033939 (Renal arteriole intima/media liquefactive necrosis)\n", + " \n", + " \n", + " A type of renal arteriole intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized.\n", + " definition of HP:0033939 (Renal arteriole intima/media liquefactive necrosis)\n", + " \n", + " \n", + " #Liquefactive necrosis of the renal arteriolar intima/media\n", + " definition of HP:0033939 (Renal arteriole intima/media liquefactive necrosis)\n", + " \n", + " \n", + " Renal tubular epithelial cell sloughing\n", + " definition of HP:0032597 (Renal tubular epithelial cell sloughing)\n", + " \n", + " \n", + " At least one free floating cell in the tubular lumen without attachment to adjacent cells or basement membrane in a tubular cross section without detachment. These cells must not aggregate into a tubular shape and completely fill the lumen, if so, it should be classified as a cast.\n", + " definition of HP:0032597 (Renal tubular epithelial cell sloughing)\n", + " \n", + " \n", + " Diminished circulating cationic trypsinogen concentration\n", + " definition of HP:6000968 (Diminished circulating cationic trypsinogen concentration)\n", + " \n", + " \n", + " Concentration of cationic trypsinogen in the blood circulation below the lower limit of normal.\n", + " definition of HP:6000968 (Diminished circulating cationic trypsinogen concentration)\n", + " \n", + " \n", + " Prefrontal hypometabolism in FDG PET\n", + " definition of HP:0012659 (Prefrontal hypometabolism in FDG PET)\n", + " \n", + " \n", + " Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the prefrontal cortex as measured by positron emission tomography (PET) brain scan.\n", + " definition of HP:0012659 (Prefrontal hypometabolism in FDG PET)\n", + " \n", + " \n", + " Premature skin wrinkling\n", + " definition of HP:0100678 (Premature skin wrinkling)\n", + " \n", + " \n", + " The presence of an increased degree of wrinkling (irregular folds and indentations) of the skin as compared with age-related norms.\n", + " definition of HP:0100678 (Premature skin wrinkling)\n", + " \n", + " \n", + " #Premature skin wrinkling\n", + " definition of HP:0100678 (Premature skin wrinkling)\n", + " \n", + " \n", + " Central retinal vessel vascular tortuosity\n", + " definition of HP:0007768 (Central retinal vessel vascular tortuosity)\n", + " \n", + " \n", + " The presence of an increased number of twists and turns of retinal blood vessels (arteries, arterioles, veins, venules).\n", + " definition of HP:0007768 (Central retinal vessel vascular tortuosity)\n", + " \n", + " \n", + " #Tortuosity of main retinal vessels\n", + " definition of HP:0007768 (Central retinal vessel vascular tortuosity)\n", + " \n", + " \n", + " Action myoclonus\n", + " definition of HP:0034360 (Action myoclonus)\n", + " \n", + " \n", + " A type of myoclonus (arrhythmic muscular jerking) that is induced by voluntary movement. It is made worse by attempts at precise or coordinated movement (intention myoclonus) and may also be provoked by certain sensory stimuli.\n", + " definition of HP:0034360 (Action myoclonus)\n", + " \n", + " \n", + " Focal cognitive seizure with deja vu/jamais vu\n", + " definition of HP:0012004 (Focal cognitive seizure with deja vu/jamais vu)\n", + " \n", + " \n", + " A focal cognitive seizure characterized by memory phenomena such as feelings of familiarity (deja vu) and unfamiliarity (jamais vu) as the initial semiological manifestation.\n", + " definition of HP:0012004 (Focal cognitive seizure with deja vu/jamais vu)\n", + " \n", + " \n", + " #Mnemonic aura #Mnemonic auras\n", + " definition of HP:0012004 (Focal cognitive seizure with deja vu/jamais vu)\n", + " \n", + " \n", + " Anterior radial head dislocation\n", + " definition of HP:0005084 (Anterior radial head dislocation)\n", + " \n", + " \n", + " A dislocation of the head of the radius from its socket in the elbow joint in an anterior direction.\n", + " definition of HP:0005084 (Anterior radial head dislocation)\n", + " \n", + " \n", + " #Anterior dislocation of radial head\n", + " definition of HP:0005084 (Anterior radial head dislocation)\n", + " \n", + " \n", + " Syncope\n", + " definition of HP:0001279 (Syncope)\n", + " \n", + " \n", + " Syncope is a syndrome in which loss of consciousness is of relatively sudden onset, temporary (usually less than 1 to 2 minutes), self-terminating, and of usually rapid recovery. Syncope leads to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow.\n", + " definition of HP:0001279 (Syncope)\n", + " \n", + " \n", + " #Fainting spell\n", + " definition of HP:0001279 (Syncope)\n", + " \n", + " \n", + " Cold-induced hemolysis\n", + " definition of HP:0031484 (Cold-induced hemolysis)\n", + " \n", + " \n", + " A form of hemolytic anemia that can be triggered by cold temperatures.\n", + " definition of HP:0031484 (Cold-induced hemolysis)\n", + " \n", + " \n", + " Enlarged mesenteric lymph node\n", + " definition of HP:0025043 (Enlarged mesenteric lymph node)\n", + " \n", + " \n", + " Increase in size of one or more mesenteric lymph nodes.\n", + " definition of HP:0025043 (Enlarged mesenteric lymph node)\n", + " \n", + " \n", + " Jugular foramen stenosis\n", + " definition of HP:6000376 (Jugular foramen stenosis)\n", + " \n", + " \n", + " Reduction in diameter of the jugular foramen, an opening in the base of the skull that is located behind the carotid canal and is formed by the temporal bone and the occipital bone. The inferior petrosal sinus, three cranial nerves, the sigmoid sinus, and meningeal arteries pass through the jugular foramen.\n", + " definition of HP:6000376 (Jugular foramen stenosis)\n", + " \n", + " \n", + " Paramedian lip pit\n", + " definition of HP:0100269 (Paramedian lip pit)\n", + " \n", + " \n", + " Depression located paramedially on the vermilion of a lip.\n", + " definition of HP:0100269 (Paramedian lip pit)\n", + " \n", + " \n", + " #Paramedian labial pits\n", + " definition of HP:0100269 (Paramedian lip pit)\n", + " \n", + " \n", + " Severe short stature\n", + " definition of HP:0003510 (Severe short stature)\n", + " \n", + " \n", + " A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.\n", + " definition of HP:0003510 (Severe short stature)\n", + " \n", + " \n", + " #Dwarfism #Proportionate dwarfism #Severe short stature #Short stature, extreme #Short stature, severe\n", + " definition of HP:0003510 (Severe short stature)\n", + " \n", + " \n", + " Triggered by serotonin reuptake inhibitor\n", + " definition of HP:0034534 (Triggered by serotonin reuptake inhibitor)\n", + " \n", + " \n", + " Applies to a sign or symptom that is provoked or brought about by exposure to a serotonin reuptake inhibitor.\n", + " definition of HP:0034534 (Triggered by serotonin reuptake inhibitor)\n", + " \n", + " \n", + " #Serotonin uptake inhibitors trigger attacks\n", + " definition of HP:0034534 (Triggered by serotonin reuptake inhibitor)\n", + " \n", + " \n", + " Diaphyseal sclerosis of the upper limbs\n", + " definition of HP:0003860 (Diaphyseal sclerosis of the upper limbs)\n", + " \n", + " \n", + " An elevation in bone density in one or more diaphyses of the arms. Sclerosis is normally detected on a radiograph as an area of increased opacity.\n", + " definition of HP:0003860 (Diaphyseal sclerosis of the upper limbs)\n", + " \n", + " \n", + " #Increased bone density in central part of long bone of upper limbs\n", + " definition of HP:0003860 (Diaphyseal sclerosis of the upper limbs)\n", + " \n", + " \n", + " Abnormal spinal meningeal morphology\n", + " definition of HP:0010303 (Abnormal spinal meningeal morphology)\n", + " \n", + " \n", + " Any abnormality of the spinal meninges, the system of membranes (dura mater, the arachnoid mater, and the pia mater) which envelops the spinal cord.\n", + " definition of HP:0010303 (Abnormal spinal meningeal morphology)\n", + " \n", + " \n", + " #Abnormality of the spinal meninges\n", + " definition of HP:0010303 (Abnormal spinal meningeal morphology)\n", + " \n", + " \n", + " Abnormal Schwann cell morphology\n", + " definition of HP:0033035 (Abnormal Schwann cell morphology)\n", + " \n", + " \n", + " Abnormality of schwann cells, glial cells that ensheath axons of neurons in the peripheral nervous system and are necessary for their maintenance and function.\n", + " definition of HP:0033035 (Abnormal Schwann cell morphology)\n", + " \n", + " \n", + " #Abnormal neurilemmal cell morphology #Abnormal neurilemmocyte morphology\n", + " definition of HP:0033035 (Abnormal Schwann cell morphology)\n", + " \n", + " \n", + " Lipomyelomeningocele\n", + " definition of HP:0025480 (Lipomyelomeningocele)\n", + " \n", + " \n", + " A type of spinal dysraphism presenting as a subcutaneous fatty mass, that is, a spinal defect associated with lipomatous tissue, and covered by skin. The most usual location for lipomyelomeningocele is at the gluteal cleft.\n", + " definition of HP:0025480 (Lipomyelomeningocele)\n", + " \n", + " \n", + " Cochlear nerve aplasia\n", + " definition of HP:6000988 (Cochlear nerve aplasia)\n", + " \n", + " \n", + " A developmental defect causing an absence of the cochlear nerve resulting in sensorineural hearing loss.\n", + " definition of HP:6000988 (Cochlear nerve aplasia)\n", + " \n", + " \n", + " Hemeralopia\n", + " definition of HP:0012047 (Hemeralopia)\n", + " \n", + " \n", + " A visual defect characterized by the inability to see as clearly in bright light as in dim light. The word hemeralopia literally means day blindness.\n", + " definition of HP:0012047 (Hemeralopia)\n", + " \n", + " \n", + " #Day blindness\n", + " definition of HP:0012047 (Hemeralopia)\n", + " \n", + " \n", + " Hypermetric downward saccades\n", + " definition of HP:0031832 (Hypermetric downward saccades)\n", + " \n", + " \n", + " Overshoot of downward saccadic eye movements.\n", + " definition of HP:0031832 (Hypermetric downward saccades)\n", + " \n", + " \n", + " Jaw hyporeflexia\n", + " definition of HP:0012392 (Jaw hyporeflexia)\n", + " \n", + " \n", + " Reduced intensity of muscle tendon reflexes in jaw.\n", + " definition of HP:0012392 (Jaw hyporeflexia)\n", + " \n", + " \n", + " #Mandibular hyporeflexia\n", + " definition of HP:0012392 (Jaw hyporeflexia)\n", + " \n", + " \n", + " Increased helper T cell proportion\n", + " definition of HP:0500264 (Increased helper T cell proportion)\n", + " \n", + " \n", + " Increased proportion of helper T cells relative to the total number of T cells.\n", + " definition of HP:0500264 (Increased helper T cell proportion)\n", + " \n", + " \n", + " #Elevated helper T cell proportion #Increased proportion T-helper cells\n", + " definition of HP:0500264 (Increased helper T cell proportion)\n", + " \n", + " \n", + " Absent hand\n", + " definition of HP:0004050 (Absent hand)\n", + " \n", + " \n", + " The total absence of the hand, with no bony elements distal to the radius or ulna.\n", + " definition of HP:0004050 (Absent hand)\n", + " \n", + " \n", + " #Absent hand #Acheiria\n", + " definition of HP:0004050 (Absent hand)\n", + " \n", + " \n", + " Reduced antithrombin III activity\n", + " definition of HP:0001976 (Reduced antithrombin III activity)\n", + " \n", + " \n", + " An abnormality of coagulation related to a decreased concentration of antithrombin-III.\n", + " definition of HP:0001976 (Reduced antithrombin III activity)\n", + " \n", + " \n", + " #Anti-thrombin III deficiency #Antithrombin III deficiency #Decreased antithrombin III\n", + " definition of HP:0001976 (Reduced antithrombin III activity)\n", + " \n", + " \n", + " Esodeviation\n", + " definition of HP:0020045 (Esodeviation)\n", + " \n", + " \n", + " A manifest or latent ocular deviation in which one or both eyes tends to deviate nasally.\n", + " definition of HP:0020045 (Esodeviation)\n", + " \n", + " \n", + " #Convergent squint #Convergent strabismus\n", + " definition of HP:0020045 (Esodeviation)\n", + " \n", + " \n", + " Epistaxis\n", + " definition of HP:0000421 (Epistaxis)\n", + " \n", + " \n", + " Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.\n", + " definition of HP:0000421 (Epistaxis)\n", + " \n", + " \n", + " #Bloody nose #Frequent nosebleeds #Nasal haemorrhage #Nasal hemorrhage #Nose bleed #Nose bleeding #Nosebleed\n", + " definition of HP:0000421 (Epistaxis)\n", + " \n", + " \n", + " Reduced hepatic dihydropyrimidinase activity\n", + " definition of HP:6000083 (Reduced hepatic dihydropyrimidinase activity)\n", + " \n", + " \n", + " Activity of dihydropyrimidinase in the liver below the lower limit of normal.\n", + " definition of HP:6000083 (Reduced hepatic dihydropyrimidinase activity)\n", + " \n", + " \n", + " Pseudoaneurysm\n", + " definition of HP:0031625 (Pseudoaneurysm)\n", + " \n", + " \n", + " A contained rupture of an artery with a disruption in all 3 layers of the arterial wall.\n", + " definition of HP:0031625 (Pseudoaneurysm)\n", + " \n", + " \n", + " Abnormality of occipitofrontalis muscle\n", + " definition of HP:0040172 (Abnormality of occipitofrontalis muscle)\n", + " \n", + " \n", + " Fractured distal tarsal bone\n", + " definition of HP:0041226 (Fractured distal tarsal bone)\n", + " \n", + " \n", + " A partial or complete breakage of the distal tarsal bone.\n", + " definition of HP:0041226 (Fractured distal tarsal bone)\n", + " \n", + " \n", + " #bone distal tarsal bone\n", + " definition of HP:0041226 (Fractured distal tarsal bone)\n", + " \n", + " \n", + " Abnormality of depressor labii inferioris\n", + " definition of HP:3000029 (Abnormality of depressor labii inferioris)\n", + " \n", + " \n", + " An abnormality of a depressor labii inferioris.\n", + " definition of HP:3000029 (Abnormality of depressor labii inferioris)\n", + " \n", + " \n", + " #Abnormality of depressor labii inferioris muscle\n", + " definition of HP:3000029 (Abnormality of depressor labii inferioris)\n", + " \n", + " \n", + " Abnormal peripheral action potential amplitude\n", + " definition of HP:0030179 (Abnormal peripheral action potential amplitude)\n", + " \n", + " \n", + " An anomaly in the magnitude of the action potential along a peripheral nerve, that is, of the rapid rise and fall of the electrical membrane potential of the nerve.\n", + " definition of HP:0030179 (Abnormal peripheral action potential amplitude)\n", + " \n", + " \n", + " Preeclampsia\n", + " definition of HP:0100602 (Preeclampsia)\n", + " \n", + " \n", + " Pregnancy-induced hypertension in association with significant amounts of protein in the urine.\n", + " definition of HP:0100602 (Preeclampsia)\n", + " \n", + " \n", + " #Pre-eclampsia\n", + " definition of HP:0100602 (Preeclampsia)\n", + " \n", + " \n", + " Fractured lower limb segment\n", + " definition of HP:0041117 (Fractured lower limb segment)\n", + " \n", + " \n", + " A partial or complete breakage of the lower limb segment.\n", + " definition of HP:0041117 (Fractured lower limb segment)\n", + " \n", + " \n", + " #bone lower limb segment\n", + " definition of HP:0041117 (Fractured lower limb segment)\n", + " \n", + " \n", + " Autoimmunity\n", + " definition of HP:0002960 (Autoimmunity)\n", + " \n", + " \n", + " The occurrence of an immune reaction against the organism's own cells or tissues.\n", + " definition of HP:0002960 (Autoimmunity)\n", + " \n", + " \n", + " #Autoimmune condition #Autoimmune disease #Autoimmune disorder #Autoimmunity\n", + " definition of HP:0002960 (Autoimmunity)\n", + " \n", + " \n", + " Increased circulating inosine concentration\n", + " definition of HP:0033339 (Increased circulating inosine concentration)\n", + " \n", + " \n", + " An increased concentration of inosine in the blood circulation.\n", + " definition of HP:0033339 (Increased circulating inosine concentration)\n", + " \n", + " \n", + " Hyperglutaminuria\n", + " definition of HP:0025376 (Hyperglutaminuria)\n", + " \n", + " \n", + " An increased concentration of glutamine in the urine.\n", + " definition of HP:0025376 (Hyperglutaminuria)\n", + " \n", + " \n", + " #Glutamine high in urine #Glutaminuria\n", + " definition of HP:0025376 (Hyperglutaminuria)\n", + " \n", + " \n", + " Consonant expressive impediment\n", + " definition of HP:5200239 (Consonant expressive impediment)\n", + " \n", + " \n", + " Abnormal sperm physiology\n", + " definition of HP:0034809 (Abnormal sperm physiology)\n", + " \n", + " \n", + " Abnormality of a sperm function including protection of paternal DNA, traversing the female reproductive tract, oocyte localisation, penetration of the zona pellucida, oocyte activation and centriole deposition.\n", + " definition of HP:0034809 (Abnormal sperm physiology)\n", + " \n", + " \n", + " Bidirectional ventricular ectopy\n", + " definition of HP:0005147 (Bidirectional ventricular ectopy)\n", + " \n", + " \n", + " Proximal upper limb muscle hypertrophy\n", + " definition of HP:0040266 (Proximal upper limb muscle hypertrophy)\n", + " \n", + " \n", + " Palmoplantar keratoderma\n", + " definition of HP:0000982 (Palmoplantar keratoderma)\n", + " \n", + " \n", + " Abnormal thickening of the skin of the palms of the hands and the soles of the feet.\n", + " definition of HP:0000982 (Palmoplantar keratoderma)\n", + " \n", + " \n", + " #Palmar and plantar keratoderma #Thickening of palms and soles\n", + " definition of HP:0000982 (Palmoplantar keratoderma)\n", + " \n", + " \n", + " Bilateral cryptorchidism\n", + " definition of HP:0008689 (Bilateral cryptorchidism)\n", + " \n", + " \n", + " Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.\n", + " definition of HP:0008689 (Bilateral cryptorchidism)\n", + " \n", + " \n", + " #Cryptorchidism, bilateral\n", + " definition of HP:0008689 (Bilateral cryptorchidism)\n", + " \n", + " \n", + " Lack of sufficient daily physical activity\n", + " definition of HP:6000023 (Lack of sufficient daily physical activity)\n", + " \n", + " \n", + " Physical activity levels less than those required for optimal health and prevention of premature death.\n", + " definition of HP:6000023 (Lack of sufficient daily physical activity)\n", + " \n", + " \n", + " #physical inactivity\n", + " definition of HP:6000023 (Lack of sufficient daily physical activity)\n", + " \n", + " \n", + " Absent ray\n", + " definition of HP:0030030 (Absent ray)\n", + " \n", + " \n", + " The absence of all phalanges of a digit and the associated metacarpal /metatarsal.\n", + " definition of HP:0030030 (Absent ray)\n", + " \n", + " \n", + " Widened greater sciatic notch\n", + " definition of HP:0008798 (Widened greater sciatic notch)\n", + " \n", + " \n", + " The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a increase in the lateral dimension of the notch.\n", + " definition of HP:0008798 (Widened greater sciatic notch)\n", + " \n", + " \n", + " #Widened sacrosciatic notch #Widening of the sacrosciatic notch\n", + " definition of HP:0008798 (Widened greater sciatic notch)\n", + " \n", + " \n", + " Enlarged epiphysis of the distal phalanx of the 3rd toe\n", + " definition of HP:0100138 (Enlarged epiphysis of the distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Enlarged end part of the outermost bone of the 3rd toe\n", + " definition of HP:0100138 (Enlarged epiphysis of the distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Ocular pruritus\n", + " definition of HP:0033841 (Ocular pruritus)\n", + " \n", + " \n", + " Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching in the region of the eye.\n", + " definition of HP:0033841 (Ocular pruritus)\n", + " \n", + " \n", + " #Itchy eyes #Ocular itch\n", + " definition of HP:0033841 (Ocular pruritus)\n", + " \n", + " \n", + " Small epiphysis of the 1st metacarpal\n", + " definition of HP:0010023 (Small epiphysis of the 1st metacarpal)\n", + " \n", + " \n", + " Abnormally small size of the epiphysis of the 1st metacarpal with respect to age-dependent norms.\n", + " definition of HP:0010023 (Small epiphysis of the 1st metacarpal)\n", + " \n", + " \n", + " #Small end part of the 1st long bone of hand\n", + " definition of HP:0010023 (Small epiphysis of the 1st metacarpal)\n", + " \n", + " \n", + " Hypocystinemia\n", + " definition of HP:0500152 (Hypocystinemia)\n", + " \n", + " \n", + " A decreased amount of cystine in the blood.\n", + " definition of HP:0500152 (Hypocystinemia)\n", + " \n", + " \n", + " #Decreased blood cystine concentration #Low blood cystine levels\n", + " definition of HP:0500152 (Hypocystinemia)\n", + " \n", + " \n", + " Slowed slurred speech\n", + " definition of HP:0007164 (Slowed slurred speech)\n", + " \n", + " \n", + " #Slowed slurred speech\n", + " definition of HP:0007164 (Slowed slurred speech)\n", + " \n", + " \n", + " Interstitial pneumonitis\n", + " definition of HP:0006515 (Interstitial pneumonitis)\n", + " \n", + " \n", + " Reduced prothrombin consumption\n", + " definition of HP:0003337 (Reduced prothrombin consumption)\n", + " \n", + " \n", + " The prothrombin consumption test measures the formation of intrinsic thromboplastin by determining the residual serum prothrombin after blood clotting is complete. If there is a defect in the process, less prothrombin will be converted to thrombin than normal (less prothrombin is consumed). This test may be abnormal with conditions including deficiency of factors VIII or IX, with circulating anticoagulants, thrombocytopenia.\n", + " definition of HP:0003337 (Reduced prothrombin consumption)\n", + " \n", + " \n", + " #Poor prothrombin consumption\n", + " definition of HP:0003337 (Reduced prothrombin consumption)\n", + " \n", + " \n", + " Incomplete right bundle branch block\n", + " definition of HP:6000313 (Incomplete right bundle branch block)\n", + " \n", + " \n", + " Right bundle branch block (RBBB) represents an abnormality in the intraventricular electrical conduction system of the human heart, generating enlarged QRS and modified vectors on the electrocardiogram (ECG). Incomplete RBBB (IRBBB) is defined by (i) QRS duration between 110 and 120 ms in adults; (ii) rsr, rsR, or rSR in leads V1 or V2. The R or r deflection is usually wider than the initial R wave. In a minority of patients, a wide and often notched R wave pattern may be seen in leads V1 and/or V2; (iii) S wave of greater duration than R wave or greater than 40 ms in leads I and V6 in adults; and (iv) Normal R peak time in leads V5 and V6 but greater than 50 ms in lead V1. The first 3 criteria should be present to make the diagnosis. When a pure dominant R wave with or without a notch is present in V1, criterion 4 should be satisfied.\n", + " definition of HP:6000313 (Incomplete right bundle branch block)\n", + " \n", + " \n", + " Elevated circulating beta-aminoisobutyric acid concentration\n", + " definition of HP:0034592 (Elevated circulating beta-aminoisobutyric acid concentration)\n", + " \n", + " \n", + " An increased concentration of beta-aminoisobutyric acid in the blood circulation.\n", + " definition of HP:0034592 (Elevated circulating beta-aminoisobutyric acid concentration)\n", + " \n", + " \n", + " #Beta-aminoisobutyric acid high in blood\n", + " definition of HP:0034592 (Elevated circulating beta-aminoisobutyric acid concentration)\n", + " \n", + " \n", + " Fetal methimazole exposure\n", + " definition of HP:0034844 (Fetal methimazole exposure)\n", + " \n", + " \n", + " A history of exposure during pregnancy of the mother of a fetus or child to methimazole.\n", + " definition of HP:0034844 (Fetal methimazole exposure)\n", + " \n", + " \n", + " #Maternal methimazole exposure #Methimazole exposure during gestation\n", + " definition of HP:0034844 (Fetal methimazole exposure)\n", + " \n", + " \n", + " Hypoplastic pilosebaceous units\n", + " definition of HP:0007515 (Hypoplastic pilosebaceous units)\n", + " \n", + " \n", + " Abnormal spatial orientation of the cardiac segments\n", + " definition of HP:0011534 (Abnormal spatial orientation of the cardiac segments)\n", + " \n", + " \n", + " Abnormality of the spatial relationship of the cardiac segments to other components of the heart.\n", + " definition of HP:0011534 (Abnormal spatial orientation of the cardiac segments)\n", + " \n", + " \n", + " Progressive calcification of costochondral cartilage\n", + " definition of HP:0006600 (Progressive calcification of costochondral cartilage)\n", + " \n", + " \n", + " Pleuritis\n", + " definition of HP:0002102 (Pleuritis)\n", + " \n", + " \n", + " Inflammation of the pleura.\n", + " definition of HP:0002102 (Pleuritis)\n", + " \n", + " \n", + " #Inflammation of tissues lining lungs and chest #Pleurisy\n", + " definition of HP:0002102 (Pleuritis)\n", + " \n", + " \n", + " Abnormal renal tubular epithelial morphology\n", + " definition of HP:0032599 (Abnormal renal tubular epithelial morphology)\n", + " \n", + " \n", + " Any structural anomaly of the renal tubular epithelial cells (RTEC), a layer of cells in the outer layer of the renal tubule. These cells play a role in the absorption of substances such as glucose and amino from the primary urine.\n", + " definition of HP:0032599 (Abnormal renal tubular epithelial morphology)\n", + " \n", + " \n", + " Iris hypopigmentation\n", + " definition of HP:0007730 (Iris hypopigmentation)\n", + " \n", + " \n", + " An abnormal reduction in the amount of pigmentation of the iris.\n", + " definition of HP:0007730 (Iris hypopigmentation)\n", + " \n", + " \n", + " #Light eye color #Light eye colour #Reduced iris pigmentation\n", + " definition of HP:0007730 (Iris hypopigmentation)\n", + " \n", + " \n", + " Abnormal lymph-node lymphocyte cytoplasm morphology\n", + " definition of HP:0020284 (Abnormal lymph-node lymphocyte cytoplasm morphology)\n", + " \n", + " \n", + " Any phenotypic abnormality of the cytoplasm (material located within the cell membrane but excluding the nucleus) of lymphocytes that are located within a lymph node.\n", + " definition of HP:0020284 (Abnormal lymph-node lymphocyte cytoplasm morphology)\n", + " \n", + " \n", + " Small epiphysis of the distal phalanx of the 4th finger\n", + " definition of HP:0009258 (Small epiphysis of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms.\n", + " definition of HP:0009258 (Small epiphysis of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " #Small end part of the outermost bone of the ring finger\n", + " definition of HP:0009258 (Small epiphysis of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " Functional motor deficit\n", + " definition of HP:0004302 (Functional motor deficit)\n", + " \n", + " \n", + " #Functional motor problems\n", + " definition of HP:0004302 (Functional motor deficit)\n", + " \n", + " \n", + " Tibial metaphyseal irregularity\n", + " definition of HP:0030292 (Tibial metaphyseal irregularity)\n", + " \n", + " \n", + " Irregularity of the normally smooth surface of a metaphysis of a tibia.\n", + " definition of HP:0030292 (Tibial metaphyseal irregularity)\n", + " \n", + " \n", + " Abnormal hindbrain morphology\n", + " definition of HP:0011282 (Abnormal hindbrain morphology)\n", + " \n", + " \n", + " An abnormality of the hindbrain, also known as the rhombencephalon.\n", + " definition of HP:0011282 (Abnormal hindbrain morphology)\n", + " \n", + " \n", + " #Abnormal shape of hindbrain #Abnormality of hindbrain morphology #Abnormality of the hindbrain\n", + " definition of HP:0011282 (Abnormal hindbrain morphology)\n", + " \n", + " \n", + " Ameliorated by vitamin D\n", + " definition of HP:4000131 (Ameliorated by vitamin D)\n", + " \n", + " \n", + " Applies to a sign or symptom that is improved or made more bearable by administration of vitamin D.\n", + " definition of HP:4000131 (Ameliorated by vitamin D)\n", + " \n", + " \n", + " #Vitamin D reduces manifestations\n", + " definition of HP:4000131 (Ameliorated by vitamin D)\n", + " \n", + " \n", + " Proximal spinal muscular atrophy\n", + " definition of HP:0006959 (Proximal spinal muscular atrophy)\n", + " \n", + " \n", + " Proximal spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem.\n", + " definition of HP:0006959 (Proximal spinal muscular atrophy)\n", + " \n", + " \n", + " Increased level of galactitol in plasma\n", + " definition of HP:0410061 (Increased level of galactitol in plasma)\n", + " \n", + " \n", + " An increase in the level of galactitol in the plasma.\n", + " definition of HP:0410061 (Increased level of galactitol in plasma)\n", + " \n", + " \n", + " Triangular shaped middle phalanx of the 2nd toe\n", + " definition of HP:0010411 (Triangular shaped middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Triangular shaped middle bone of 2nd toe\n", + " definition of HP:0010411 (Triangular shaped middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " Abnormal pulmonary vein morphology\n", + " definition of HP:0030968 (Abnormal pulmonary vein morphology)\n", + " \n", + " \n", + " An abnormality of the structure of the pulmonary veins.\n", + " definition of HP:0030968 (Abnormal pulmonary vein morphology)\n", + " \n", + " \n", + " Superiorly positioned umbilicus\n", + " definition of HP:0032511 (Superiorly positioned umbilicus)\n", + " \n", + " \n", + " The position of the umbilicus (belly button) is abnormally high (superior).\n", + " definition of HP:0032511 (Superiorly positioned umbilicus)\n", + " \n", + " \n", + " Periventricular laminar heterotopia\n", + " definition of HP:0032389 (Periventricular laminar heterotopia)\n", + " \n", + " \n", + " A large mass of heterotopia in a laminar configuration along the ventricular walls. Usually bilateral.\n", + " definition of HP:0032389 (Periventricular laminar heterotopia)\n", + " \n", + " \n", + " Glomerular parietal epithelial cell hyperplasia\n", + " definition of HP:0033224 (Glomerular parietal epithelial cell hyperplasia)\n", + " \n", + " \n", + " Increased number of parietal epithelial cells lining Bowman's capsule. Hyperplasia leads to the cells being present in 2 or more layers, often with crowding and multilayering.\n", + " definition of HP:0033224 (Glomerular parietal epithelial cell hyperplasia)\n", + " \n", + " \n", + " #Hyperplasia of the glomerular parietal epithelial cell\n", + " definition of HP:0033224 (Glomerular parietal epithelial cell hyperplasia)\n", + " \n", + " \n", + " Anterior bowing of long bones\n", + " definition of HP:0006473 (Anterior bowing of long bones)\n", + " \n", + " \n", + " An abnormal anterior curvature of a long bone.\n", + " definition of HP:0006473 (Anterior bowing of long bones)\n", + " \n", + " \n", + " Abnormal lymph-node lymphoctye nuclear morphology\n", + " definition of HP:0020278 (Abnormal lymph-node lymphoctye nuclear morphology)\n", + " \n", + " \n", + " Focal emotional seizure with pleasure\n", + " definition of HP:0032729 (Focal emotional seizure with pleasure)\n", + " \n", + " \n", + " Focal emotional seizure with pleasure is characterized by the presence of a positive emotional experience with pleasure, bliss, joy, enhanced personal well-being, heightened self-awareness or ecstasy.\n", + " definition of HP:0032729 (Focal emotional seizure with pleasure)\n", + " \n", + " \n", + " Aplasia/hypoplasia of the femur\n", + " definition of HP:0005613 (Aplasia/hypoplasia of the femur)\n", + " \n", + " \n", + " Absence or underdevelopment of the femur.\n", + " definition of HP:0005613 (Aplasia/hypoplasia of the femur)\n", + " \n", + " \n", + " #Absent/small thighbone #Absent/underdeveloped thighbone #Hypoplastic to absent femora #Hypoplastic/aplastic femora\n", + " definition of HP:0005613 (Aplasia/hypoplasia of the femur)\n", + " \n", + " \n", + " Focal hyperintensity of cerebral white matter on MRI\n", + " definition of HP:0040328 (Focal hyperintensity of cerebral white matter on MRI)\n", + " \n", + " \n", + " An abnormal area of increased brightness (hyperintensity) that is limited to one particular area.\n", + " definition of HP:0040328 (Focal hyperintensity of cerebral white matter on MRI)\n", + " \n", + " \n", + " Abnormality of the epiphysis of the proximal phalanx of the 5th toe\n", + " definition of HP:0100099 (Abnormality of the epiphysis of the proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " #Abnormality of the end part of the innermost bone of the little toe #Abnormality of the end part of the innermost bone of the pinkie toe #Abnormality of the end part of the innermost bone of the pinky toe\n", + " definition of HP:0100099 (Abnormality of the epiphysis of the proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " Abnormal mandible condylar process morphology\n", + " definition of HP:3000077 (Abnormal mandible condylar process morphology)\n", + " \n", + " \n", + " An abnormality of a mandible condylar process.\n", + " definition of HP:3000077 (Abnormal mandible condylar process morphology)\n", + " \n", + " \n", + " #Abnormality of mandible condylar process\n", + " definition of HP:3000077 (Abnormal mandible condylar process morphology)\n", + " \n", + " \n", + " Abnormality of the anterior commissure\n", + " definition of HP:0030301 (Abnormality of the anterior commissure)\n", + " \n", + " \n", + " An anomaly of the anterior commissure, a bundle of nerve fibers that connect the two cerebral hemispheres across the midline. The anterior commissure plays a role in pain sensation and contains decussating fibers from the olfactory tracts.\n", + " definition of HP:0030301 (Abnormality of the anterior commissure)\n", + " \n", + " \n", + " Elevated systolic blood pressure\n", + " definition of HP:0004421 (Elevated systolic blood pressure)\n", + " \n", + " \n", + " Abnormal increase in systolic blood pressure.\n", + " definition of HP:0004421 (Elevated systolic blood pressure)\n", + " \n", + " \n", + " #Elevated systolic BP\n", + " definition of HP:0004421 (Elevated systolic blood pressure)\n", + " \n", + " \n", + " Triangular epiphyses of the 4th finger\n", + " definition of HP:0009403 (Triangular epiphyses of the 4th finger)\n", + " \n", + " \n", + " A triangular appearance of the epiphyses of the 4th finger of the hand.\n", + " definition of HP:0009403 (Triangular epiphyses of the 4th finger)\n", + " \n", + " \n", + " #Delta-shaped epiphyses of the 4th finger #Triangular end part of ring finger bone\n", + " definition of HP:0009403 (Triangular epiphyses of the 4th finger)\n", + " \n", + " \n", + " Transient hypophosphatemia\n", + " definition of HP:0008285 (Transient hypophosphatemia)\n", + " \n", + " \n", + " Enlarged epiphyses of the middle phalanges of the hand\n", + " definition of HP:0010260 (Enlarged epiphyses of the middle phalanges of the hand)\n", + " \n", + " \n", + " #Enlarged end part of the middle hand bones\n", + " definition of HP:0010260 (Enlarged epiphyses of the middle phalanges of the hand)\n", + " \n", + " \n", + " Delayed ossification of the clavicle\n", + " definition of HP:6000874 (Delayed ossification of the clavicle)\n", + " \n", + " \n", + " Delayed maturation and calcification of the clavicle.\n", + " definition of HP:6000874 (Delayed ossification of the clavicle)\n", + " \n", + " \n", + " Gastric carcinoid tumor\n", + " definition of HP:6000898 (Gastric carcinoid tumor)\n", + " \n", + " \n", + " Originating from enterochromaffin-like cells, gastric carcinoid tumors are rare tumors that develop within the gastric mucosa. They can present as an isolated lesion or there can be multiple lesions. The tumor can invade locally into deeper structures of the gastrointestinal tract wall. Solitary gastric carcinoids have a greater chance for the development of malignancy and metastasis as compared to multiple gastric carcinoids due to hypergastrinemia.\n", + " definition of HP:6000898 (Gastric carcinoid tumor)\n", + " \n", + " \n", + " Renal artery atherosclerosis\n", + " definition of HP:0031684 (Renal artery atherosclerosis)\n", + " \n", + " \n", + " An atherosclerotic lesion located in the renal artery.\n", + " definition of HP:0031684 (Renal artery atherosclerosis)\n", + " \n", + " \n", + " Mandibular condyle aplasia\n", + " definition of HP:0007627 (Mandibular condyle aplasia)\n", + " \n", + " \n", + " #Underdevelopment of condylar process of mandible\n", + " definition of HP:0007627 (Mandibular condyle aplasia)\n", + " \n", + " \n", + " Diabetic ketoacidosis\n", + " definition of HP:0001953 (Diabetic ketoacidosis)\n", + " \n", + " \n", + " A type of diabetic metabolic abnormality with an accumulation of ketone bodies.\n", + " definition of HP:0001953 (Diabetic ketoacidosis)\n", + " \n", + " \n", + " #Diabetic ketosis\n", + " definition of HP:0001953 (Diabetic ketoacidosis)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the distal phalanges of the hand\n", + " definition of HP:0009835 (Aplasia/Hypoplasia of the distal phalanges of the hand)\n", + " \n", + " \n", + " Absence or underdevelopment of the distal phalanges.\n", + " definition of HP:0009835 (Aplasia/Hypoplasia of the distal phalanges of the hand)\n", + " \n", + " \n", + " #Absent/hypoplastic distal phalanges #Absent/small outermost finger bone of the hand #Absent/underdeveloped outermost finger bone of the hand #Aplasia/Hypoplasia of the distal phalanges #Aplastic/hypoplastic distal phalanges #Hypoplastic to absent terminal phalanges #Hypoplastic/aplastic distal phalanges #Hypoplastic/aplastic distal phalanx\n", + " definition of HP:0009835 (Aplasia/Hypoplasia of the distal phalanges of the hand)\n", + " \n", + " \n", + " Sclerosis of the distal phalanx of the 4th toe\n", + " definition of HP:0100941 (Sclerosis of the distal phalanx of the 4th toe)\n", + " \n", + " \n", + " #Increased bone density in the outermost bone of the 4th toe\n", + " definition of HP:0100941 (Sclerosis of the distal phalanx of the 4th toe)\n", + " \n", + " \n", + " Severe photosensitivity\n", + " definition of HP:0007537 (Severe photosensitivity)\n", + " \n", + " \n", + " A severe degree of photosensitivity of the skin.\n", + " definition of HP:0007537 (Severe photosensitivity)\n", + " \n", + " \n", + " #Severe sun sensitivity\n", + " definition of HP:0007537 (Severe photosensitivity)\n", + " \n", + " \n", + " Flattened radial head\n", + " definition of HP:0003996 (Flattened radial head)\n", + " \n", + " \n", + " Biconvex vertebral bodies\n", + " definition of HP:0004625 (Biconvex vertebral bodies)\n", + " \n", + " \n", + " Presence of abnormal convexity of the upper and lower end plates of the vertebrae, i.e., an exaggerated bulging out of the upper and lower vertebral end plates.\n", + " definition of HP:0004625 (Biconvex vertebral bodies)\n", + " \n", + " \n", + " Granulocytic hypoplasia\n", + " definition of HP:0012139 (Granulocytic hypoplasia)\n", + " \n", + " \n", + " Decreased number of granulocyte precursors in the bone marrow.\n", + " definition of HP:0012139 (Granulocytic hypoplasia)\n", + " \n", + " \n", + " Reduced alpha-2-antiplasmin activity\n", + " definition of HP:0040245 (Reduced alpha-2-antiplasmin activity)\n", + " \n", + " \n", + " Reduced activity of alpha-2-antiplasmin. This protein inactivates the protease plasmin that drives fibrinolysis.\n", + " definition of HP:0040245 (Reduced alpha-2-antiplasmin activity)\n", + " \n", + " \n", + " Left ventricular rupture\n", + " definition of HP:6001036 (Left ventricular rupture)\n", + " \n", + " \n", + " A full thickness tear or breakage of the myocardium of the left ventricle.\n", + " definition of HP:6001036 (Left ventricular rupture)\n", + " \n", + " \n", + " Premature chromatid separation\n", + " definition of HP:0200024 (Premature chromatid separation)\n", + " \n", + " \n", + " The presence of premature sister chromatid segregation.\n", + " definition of HP:0200024 (Premature chromatid separation)\n", + " \n", + " \n", + " Ivory epiphysis of the distal phalanx of the 5th finger\n", + " definition of HP:0004223 (Ivory epiphysis of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " Sclerosis of the epiphysis of the distal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.\n", + " definition of HP:0004223 (Ivory epiphysis of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " #Increased bone density of end part of the outermost little finger bone #Increased bone density of end part of the outermost pinkie finger bone #Increased bone density of end part of the outermost pinky finger bone #Ivory epiphysis of the distal phalanx of the little finger #Ivory epiphysis of the terminal phalanx of the little finger\n", + " definition of HP:0004223 (Ivory epiphysis of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " Abnormality of jaw muscles\n", + " definition of HP:0045037 (Abnormality of jaw muscles)\n", + " \n", + " \n", + " #Abnormality of jaw muscles\n", + " definition of HP:0045037 (Abnormality of jaw muscles)\n", + " \n", + " \n", + " Clonus\n", + " definition of HP:0002169 (Clonus)\n", + " \n", + " \n", + " A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch.\n", + " definition of HP:0002169 (Clonus)\n", + " \n", + " \n", + " #Involuntary rhythmic muscular contractions and relaxations\n", + " definition of HP:0002169 (Clonus)\n", + " \n", + " \n", + " Convergence-retraction nystagmus\n", + " definition of HP:0025711 (Convergence-retraction nystagmus)\n", + " \n", + " \n", + " Convergence-retraction nystagmus is an irregular, jerky nystagmus in which both eyeballs rhythmically converge and retract into the orbit, particularly on attempting an upward gaze.\n", + " definition of HP:0025711 (Convergence-retraction nystagmus)\n", + " \n", + " \n", + " #Convergence retraction nystagmus\n", + " definition of HP:0025711 (Convergence-retraction nystagmus)\n", + " \n", + " \n", + " Peripheral\n", + " definition of HP:0030646 (Peripheral)\n", + " \n", + " \n", + " Neoplasm of the scrotum\n", + " definition of HP:0100849 (Neoplasm of the scrotum)\n", + " \n", + " \n", + " A tumor (abnormal growth of tissue) of the scrotum.\n", + " definition of HP:0100849 (Neoplasm of the scrotum)\n", + " \n", + " \n", + " #Neoplasia of the scrotum #Scrotum tumor #Scrotum tumour\n", + " definition of HP:0100849 (Neoplasm of the scrotum)\n", + " \n", + " \n", + " Depletion of components of the alternative complement pathway\n", + " definition of HP:0005389 (Depletion of components of the alternative complement pathway)\n", + " \n", + " \n", + " An abnormal reduction in the components of the alternative complement pathway, such as the C3 protein or its cleavage products.\n", + " definition of HP:0005389 (Depletion of components of the alternative complement pathway)\n", + " \n", + " \n", + " Supraventricular tachycardia with a manifest accessory pathway on the right free wall\n", + " definition of HP:0011697 (Supraventricular tachycardia with a manifest accessory pathway on the right free wall)\n", + " \n", + " \n", + " Sclerosis of the distal phalanx of the 4th finger\n", + " definition of HP:0100902 (Sclerosis of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " #Increased bone density in the outermost bone of the ring finger\n", + " definition of HP:0100902 (Sclerosis of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " Increased circulating argininosuccinic acid\n", + " definition of HP:0032491 (Increased circulating argininosuccinic acid)\n", + " \n", + " \n", + " An increased level of the non-proteinogenic amino acid argininosuccinic acid in the blood circulation.\n", + " definition of HP:0032491 (Increased circulating argininosuccinic acid)\n", + " \n", + " \n", + " Amelogenesis imperfecta\n", + " definition of HP:0000705 (Amelogenesis imperfecta)\n", + " \n", + " \n", + " A developmental dysplasia of the dental enamel.\n", + " definition of HP:0000705 (Amelogenesis imperfecta)\n", + " \n", + " \n", + " Tendon pain\n", + " definition of HP:0032510 (Tendon pain)\n", + " \n", + " \n", + " An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to a tendon.\n", + " definition of HP:0032510 (Tendon pain)\n", + " \n", + " \n", + " Inflammatory cap polyp\n", + " definition of HP:0025198 (Inflammatory cap polyp)\n", + " \n", + " \n", + " A non-malignant sessile or pedunculated polyp in the colon and rectum that displays a cap of inflammatory granulation tissue with fibrinopurulent exudate that covers the polyp.\n", + " definition of HP:0025198 (Inflammatory cap polyp)\n", + " \n", + " \n", + " Anti-HLA antibody positivity\n", + " definition of HP:0034016 (Anti-HLA antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen (HLA).\n", + " definition of HP:0034016 (Anti-HLA antibody positivity)\n", + " \n", + " \n", + " #Anti-human leukocyte antigen antibody positivity\n", + " definition of HP:0034016 (Anti-HLA antibody positivity)\n", + " \n", + " \n", + " Abnormal nasal cartilage morphology\n", + " definition of HP:0030027 (Abnormal nasal cartilage morphology)\n", + " \n", + " \n", + " A morphological anomaly of the nasal cartilage.\n", + " definition of HP:0030027 (Abnormal nasal cartilage morphology)\n", + " \n", + " \n", + " #Abnormality of cartilage of nose #Abnormality of the nasal cartilage #Anomaly of cartilage of nose #Anomaly of nasal cartilage\n", + " definition of HP:0030027 (Abnormal nasal cartilage morphology)\n", + " \n", + " \n", + " Broad proximal phalanx of the 4th toe\n", + " definition of HP:0100429 (Broad proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " #Wide innermost bone of 4th toe\n", + " definition of HP:0100429 (Broad proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " Hypocalcemia\n", + " definition of HP:0002901 (Hypocalcemia)\n", + " \n", + " \n", + " An abnormally decreased calcium concentration in the blood.\n", + " definition of HP:0002901 (Hypocalcemia)\n", + " \n", + " \n", + " #Hypocalcaemia #Low blood calcium levels\n", + " definition of HP:0002901 (Hypocalcemia)\n", + " \n", + " \n", + " Poliosis\n", + " definition of HP:0002290 (Poliosis)\n", + " \n", + " \n", + " Circumscribed depigmentation of the hair of the head or the eyelashes.\n", + " definition of HP:0002290 (Poliosis)\n", + " \n", + " \n", + " #Patch of white hair #White patch\n", + " definition of HP:0002290 (Poliosis)\n", + " \n", + " \n", + " Microtia\n", + " definition of HP:0008551 (Microtia)\n", + " \n", + " \n", + " Underdevelopment of the external ear.\n", + " definition of HP:0008551 (Microtia)\n", + " \n", + " \n", + " #Bilateral microtia #Hypoplasia of the external ear #Hypoplastic ears #Hypoplastic pinna #Small ears #Small pinnae #Underdeveloped ears\n", + " definition of HP:0008551 (Microtia)\n", + " \n", + " \n", + " Abnormal hallux phalanx morphology\n", + " definition of HP:0010057 (Abnormal hallux phalanx morphology)\n", + " \n", + " \n", + " #Abnormal big toe bones #Abnormality of the phalanges of the hallux\n", + " definition of HP:0010057 (Abnormal hallux phalanx morphology)\n", + " \n", + " \n", + " Triplomyelia\n", + " definition of HP:0100564 (Triplomyelia)\n", + " \n", + " \n", + " Triplication of the spinal cord - extremely rare.\n", + " definition of HP:0100564 (Triplomyelia)\n", + " \n", + " \n", + " #Triplication of spinal cord\n", + " definition of HP:0100564 (Triplomyelia)\n", + " \n", + " \n", + " Antegonial notching of mandible\n", + " definition of HP:0003779 (Antegonial notching of mandible)\n", + " \n", + " \n", + " #Deep antegonial notch of mandible #Large antegonial notch of mandible\n", + " definition of HP:0003779 (Antegonial notching of mandible)\n", + " \n", + " \n", + " Extension contracture of toe\n", + " definition of HP:0034676 (Extension contracture of toe)\n", + " \n", + " \n", + " A type of toe joint contracture in which the joint lacks full expected flexion, so that the two bony segments on either side of their connecting joint cannot be brought together.\n", + " definition of HP:0034676 (Extension contracture of toe)\n", + " \n", + " \n", + " Abnormality of coagulation\n", + " definition of HP:0001928 (Abnormality of coagulation)\n", + " \n", + " \n", + " An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot.\n", + " definition of HP:0001928 (Abnormality of coagulation)\n", + " \n", + " \n", + " #Abnormal blood coagulation studies #Coagulation abnormalities #Coagulation abnormality #Haemorrhagic disorders\n", + " definition of HP:0001928 (Abnormality of coagulation)\n", + " \n", + " \n", + " Pineal cyst\n", + " definition of HP:0012683 (Pineal cyst)\n", + " \n", + " \n", + " A glial uniloculated or multiloculated fluid-filled sac that either reside within or completely replace the pineal gland.\n", + " definition of HP:0012683 (Pineal cyst)\n", + " \n", + " \n", + " Hip subluxation\n", + " definition of HP:0030043 (Hip subluxation)\n", + " \n", + " \n", + " A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket.\n", + " definition of HP:0030043 (Hip subluxation)\n", + " \n", + " \n", + " #Partial hip dislocation #Subluxation involving the hip joint\n", + " definition of HP:0030043 (Hip subluxation)\n", + " \n", + " \n", + " Anti-liver cytosolic antigen type 1 antibody positivity\n", + " definition of HP:0030909 (Anti-liver cytosolic antigen type 1 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against a 60-kd peptide contained in the liver cytosolic fraction.\n", + " definition of HP:0030909 (Anti-liver cytosolic antigen type 1 antibody positivity)\n", + " \n", + " \n", + " #Anti-liver cytosol antibody-1 positivity\n", + " definition of HP:0030909 (Anti-liver cytosolic antigen type 1 antibody positivity)\n", + " \n", + " \n", + " Diffuse ribbon-like subcortical heterotopia\n", + " definition of HP:0032393 (Diffuse ribbon-like subcortical heterotopia)\n", + " \n", + " \n", + " Subcortical heterotopia consisting of a bilateral and symmetric single continuous, undulating ribbon-like layer of gray matter located in the frontal, parietal and occipital lobes. It has no visible connection to the overlying cortex.\n", + " definition of HP:0032393 (Diffuse ribbon-like subcortical heterotopia)\n", + " \n", + " \n", + " Draining sinus tract in skin\n", + " definition of HP:6000095 (Draining sinus tract in skin)\n", + " \n", + " \n", + " A sinus tract is an abnormal channel that originates from the skin or a mucous surface to a deep-seated focus of suppuration.\n", + " definition of HP:6000095 (Draining sinus tract in skin)\n", + " \n", + " \n", + " #Discharging sinus #Draining tract in skin #Tract under skin draining associated abscess\n", + " definition of HP:6000095 (Draining sinus tract in skin)\n", + " \n", + " \n", + " Intermittent generalized erythematous papular rash\n", + " definition of HP:0007432 (Intermittent generalized erythematous papular rash)\n", + " \n", + " \n", + " #Intermittent generalised erythematous papular rash\n", + " definition of HP:0007432 (Intermittent generalized erythematous papular rash)\n", + " \n", + " \n", + " Syndactyly\n", + " definition of HP:0001159 (Syndactyly)\n", + " \n", + " \n", + " Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as \\"bony\\" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as \\"symphalangism\\".\n", + " definition of HP:0001159 (Syndactyly)\n", + " \n", + " \n", + " #Webbed fingers or toes\n", + " definition of HP:0001159 (Syndactyly)\n", + " \n", + " \n", + " Elevated circulating ghrelin concentration\n", + " definition of HP:6000436 (Elevated circulating ghrelin concentration)\n", + " \n", + " \n", + " The concentration of ghrelin in the blood circulation is above the upper limit of normal. Ghrelin is a 28-amino-acid peptide predominantly secreted in the stomach and stimulates appetite and growth hormone (GH) release.\n", + " definition of HP:6000436 (Elevated circulating ghrelin concentration)\n", + " \n", + " \n", + " Anti-granulocyte-macrophage colony stimulating factor antibody positivity\n", + " definition of HP:0020050 (Anti-granulocyte-macrophage colony stimulating factor antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies in the serum that react against granulocyte-macrophage colony stimulating factor.\n", + " definition of HP:0020050 (Anti-granulocyte-macrophage colony stimulating factor antibody positivity)\n", + " \n", + " \n", + " #Anti-GM-CSF antibody positivity\n", + " definition of HP:0020050 (Anti-granulocyte-macrophage colony stimulating factor antibody positivity)\n", + " \n", + " \n", + " Thin clavicles\n", + " definition of HP:0006645 (Thin clavicles)\n", + " \n", + " \n", + " Abnormally reduced diameter (cross section) of the clavicles.\n", + " definition of HP:0006645 (Thin clavicles)\n", + " \n", + " \n", + " #Thin collarbone\n", + " definition of HP:0006645 (Thin clavicles)\n", + " \n", + " \n", + " Split foot\n", + " definition of HP:0001839 (Split foot)\n", + " \n", + " \n", + " A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet.\n", + " definition of HP:0001839 (Split foot)\n", + " \n", + " \n", + " #Foot ectrodactyly #Lobster-claw foot deformity #Split foot #Split-foot\n", + " definition of HP:0001839 (Split foot)\n", + " \n", + " \n", + " Suicide behaviors\n", + " definition of HP:5200330 (Suicide behaviors)\n", + " \n", + " \n", + " Suicide attempts or preparations\n", + " definition of HP:5200330 (Suicide behaviors)\n", + " \n", + " \n", + " #Sucidality #Suicidal actions\n", + " definition of HP:5200330 (Suicide behaviors)\n", + " \n", + " \n", + " Against the rule astigmatism\n", + " definition of HP:0031789 (Against the rule astigmatism)\n", + " \n", + " \n", + " Astigmatism with more plus power on the horizontal meridian.\n", + " definition of HP:0031789 (Against the rule astigmatism)\n", + " \n", + " \n", + " Reduced granulocyte CD18 level\n", + " definition of HP:0032455 (Reduced granulocyte CD18 level)\n", + " \n", + " \n", + " Reduced level of CD18 on the granulocyte surface. This feature can be assessed by flow cytometry.\n", + " definition of HP:0032455 (Reduced granulocyte CD18 level)\n", + " \n", + " \n", + " Pulmonary artery aneurysm\n", + " definition of HP:0004937 (Pulmonary artery aneurysm)\n", + " \n", + " \n", + " An aneurysm (severe localized balloon-like outward bulging) in the pulmonary artery.\n", + " definition of HP:0004937 (Pulmonary artery aneurysm)\n", + " \n", + " \n", + " Abnormal proportion of gamma-delta T cells\n", + " definition of HP:0500269 (Abnormal proportion of gamma-delta T cells)\n", + " \n", + " \n", + " Abnormal proportion of gamma-delta T cells relative to the total number of T cells.\n", + " definition of HP:0500269 (Abnormal proportion of gamma-delta T cells)\n", + " \n", + " \n", + " #Abnormal proportion of gamma-delta T lymphocytes #Abnormal proportion of gamma-delta T-lymphocytes #Abnormal proportion of gammadelta T cells\n", + " definition of HP:0500269 (Abnormal proportion of gamma-delta T cells)\n", + " \n", + " \n", + " Retinoblastoma\n", + " definition of HP:0009919 (Retinoblastoma)\n", + " \n", + " \n", + " A tumor of the eye originating from cells of the retina.\n", + " definition of HP:0009919 (Retinoblastoma)\n", + " \n", + " \n", + " Renal juxtaglomerular cell hypertrophy/hyperplasia\n", + " definition of HP:0000111 (Renal juxtaglomerular cell hypertrophy/hyperplasia)\n", + " \n", + " \n", + " Increased number and size of the juxtaglomerular cells.\n", + " definition of HP:0000111 (Renal juxtaglomerular cell hypertrophy/hyperplasia)\n", + " \n", + " \n", + " Decreased CSF amyloid concentration\n", + " definition of HP:0030861 (Decreased CSF amyloid concentration)\n", + " \n", + " \n", + " Reduced concentration of amyloid in the cerebrospinal fluid (CSF).\n", + " definition of HP:0030861 (Decreased CSF amyloid concentration)\n", + " \n", + " \n", + " #Decreased CSF amyloid level\n", + " definition of HP:0030861 (Decreased CSF amyloid concentration)\n", + " \n", + " \n", + " Narrowing of medullary canal\n", + " definition of HP:0032458 (Narrowing of medullary canal)\n", + " \n", + " \n", + " A reduction in diameter and volume of the central cavity of bone where red or yellow bone marrow is located.\n", + " definition of HP:0032458 (Narrowing of medullary canal)\n", + " \n", + " \n", + " #Medullary cavity obliteration #Narrowing of bone marrow canal #Narrowing of bone medullary canal #Narrowing of the marrow cavity\n", + " definition of HP:0032458 (Narrowing of medullary canal)\n", + " \n", + " \n", + " 5-minute APGAR score of 6\n", + " definition of HP:0030926 (5-minute APGAR score of 6)\n", + " \n", + " \n", + " Nervous tissue neoplasm\n", + " definition of HP:0030060 (Nervous tissue neoplasm)\n", + " \n", + " \n", + " A neoplasm derived from nervous tissue (not necessarily a neoplasm located in the nervous system).\n", + " definition of HP:0030060 (Nervous tissue neoplasm)\n", + " \n", + " \n", + " Palmar edema\n", + " definition of HP:0025538 (Palmar edema)\n", + " \n", + " \n", + " An abnormal accumulation of fluid beneath the skin on the palm of the hand.\n", + " definition of HP:0025538 (Palmar edema)\n", + " \n", + " \n", + " #Palmar oedema\n", + " definition of HP:0025538 (Palmar edema)\n", + " \n", + " \n", + " Abnormal CSF dopamine concentration\n", + " definition of HP:0012654 (Abnormal CSF dopamine concentration)\n", + " \n", + " \n", + " Abnormal concentration of dopamine in the cerebrospinal fluid (CSF).\n", + " definition of HP:0012654 (Abnormal CSF dopamine concentration)\n", + " \n", + " \n", + " #Abnormal CSF dopamine level\n", + " definition of HP:0012654 (Abnormal CSF dopamine concentration)\n", + " \n", + " \n", + " History of aortic valve replacement\n", + " definition of HP:6000983 (History of aortic valve replacement)\n", + " \n", + " \n", + " History of having received a surgical replacement of the aortic valve.\n", + " definition of HP:6000983 (History of aortic valve replacement)\n", + " \n", + " \n", + " Short middle phalanx of the 2nd finger\n", + " definition of HP:0009577 (Short middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger.\n", + " definition of HP:0009577 (Short middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Brachymesophalangy II (finger) #Hypoplastic middle index finger phalanx #Hypoplastic/small middle phalanx of the 2nd finger #Short middle bone of index finger\n", + " definition of HP:0009577 (Short middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " Abnormal calcification of the carpal bones\n", + " definition of HP:0009164 (Abnormal calcification of the carpal bones)\n", + " \n", + " \n", + " #Abnormal calcification of the wrist bones #Carpal calcifications\n", + " definition of HP:0009164 (Abnormal calcification of the carpal bones)\n", + " \n", + " \n", + " Hypoplastic vertebral pedicle\n", + " definition of HP:0030278 (Hypoplastic vertebral pedicle)\n", + " \n", + " \n", + " Underdeveloped vertebral pedicle.\n", + " definition of HP:0030278 (Hypoplastic vertebral pedicle)\n", + " \n", + " \n", + " Abnormal lumbar spine morphology\n", + " definition of HP:0100712 (Abnormal lumbar spine morphology)\n", + " \n", + " \n", + " Any structural abnormality of the lumbar vertebral column.\n", + " definition of HP:0100712 (Abnormal lumbar spine morphology)\n", + " \n", + " \n", + " #Abnormality of the lumbar spine\n", + " definition of HP:0100712 (Abnormal lumbar spine morphology)\n", + " \n", + " \n", + " Increased corneal thickness\n", + " definition of HP:0011487 (Increased corneal thickness)\n", + " \n", + " \n", + " A increased anteroposterior thickness of the cornea.\n", + " definition of HP:0011487 (Increased corneal thickness)\n", + " \n", + " \n", + " Curved phalanges of the 4th finger\n", + " definition of HP:0009285 (Curved phalanges of the 4th finger)\n", + " \n", + " \n", + " Curved appearance of the phalanges of the 4th (ring) finger.\n", + " definition of HP:0009285 (Curved phalanges of the 4th finger)\n", + " \n", + " \n", + " #Curved ring finger bone\n", + " definition of HP:0009285 (Curved phalanges of the 4th finger)\n", + " \n", + " \n", + " Lip freckle\n", + " definition of HP:0010798 (Lip freckle)\n", + " \n", + " \n", + " Increased focal pigmentation of the vermilion of the lips.\n", + " definition of HP:0010798 (Lip freckle)\n", + " \n", + " \n", + " #Ephelis of lip #Labial lentigo #Lip freckle #Lip lentigo\n", + " definition of HP:0010798 (Lip freckle)\n", + " \n", + " \n", + " Aneurysmal bone cyst\n", + " definition of HP:0012063 (Aneurysmal bone cyst)\n", + " \n", + " \n", + " Radiographic features include a dilated, radiolucent lesion typically located eccentrically within the metaphyseal portion of the bone, with fluid levels visible on magnetic resonance imaging.\n", + " definition of HP:0012063 (Aneurysmal bone cyst)\n", + " \n", + " \n", + " Abnormality of glycolipid metabolism\n", + " definition of HP:0010969 (Abnormality of glycolipid metabolism)\n", + " \n", + " \n", + " An abnormality of glycolipid metabolism.\n", + " definition of HP:0010969 (Abnormality of glycolipid metabolism)\n", + " \n", + " \n", + " Abnormal best corrected visual acuity test\n", + " definition of HP:0030534 (Abnormal best corrected visual acuity test)\n", + " \n", + " \n", + " Split hand\n", + " definition of HP:0001171 (Split hand)\n", + " \n", + " \n", + " A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middle fingers as far as oligo- or monodactyl hands.\n", + " definition of HP:0001171 (Split hand)\n", + " \n", + " \n", + " #Ectrodactyly of the hand #Hand ectrodactyly #Split hand #Split-hand\n", + " definition of HP:0001171 (Split hand)\n", + " \n", + " \n", + " Somatic hallucination\n", + " definition of HP:5200214 (Somatic hallucination)\n", + " \n", + " \n", + " A type of hallucination that involves the perception of sensory experiences related to the body or its internal organs, systems, or processes. It is a hallucinatory experience that primarily affects bodily sensations rather than external sensory perceptions.\n", + " definition of HP:5200214 (Somatic hallucination)\n", + " \n", + " \n", + " #Hallucination of bodily sensation #Somatic bodily hallucination\n", + " definition of HP:5200214 (Somatic hallucination)\n", + " \n", + " \n", + " Reduced muscle lactate dehydrogenase activity\n", + " definition of HP:6000196 (Reduced muscle lactate dehydrogenase activity)\n", + " \n", + " \n", + " Activity of the enzyme lactate dehdrogenase (LHD; 1.1.1.27) in muscle tissue is below the lower limit of normal. LDH catalyzes the conversion of pyruvate to lactate and back, as it converts NAD+ to NADH and back.\n", + " definition of HP:6000196 (Reduced muscle lactate dehydrogenase activity)\n", + " \n", + " \n", + " #Muscle biopsy: lactate dehydrogenase low\n", + " definition of HP:6000196 (Reduced muscle lactate dehydrogenase activity)\n", + " \n", + " \n", + " Short proximal phalanx of thumb\n", + " definition of HP:0009638 (Short proximal phalanx of thumb)\n", + " \n", + " \n", + " Hypoplastic (short) proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.\n", + " definition of HP:0009638 (Short proximal phalanx of thumb)\n", + " \n", + " \n", + " #Hypoplastic/small proximal phalanx of the thumb #Short proximal phalanges of thumb #Short proximal thumb bone #Short proximal thumb phalanx\n", + " definition of HP:0009638 (Short proximal phalanx of thumb)\n", + " \n", + " \n", + " Enlarged metacarpophalangeal joints\n", + " definition of HP:0006163 (Enlarged metacarpophalangeal joints)\n", + " \n", + " \n", + " Light-chain paraproteinemia\n", + " definition of HP:0031048 (Light-chain paraproteinemia)\n", + " \n", + " \n", + " An abnormal immunoglobulin light chain in the circulation and typically produced by a clonal population of B-cell derived plasma cells.\n", + " definition of HP:0031048 (Light-chain paraproteinemia)\n", + " \n", + " \n", + " Ivory epiphyses of the phalanges of the hand\n", + " definition of HP:0010234 (Ivory epiphyses of the phalanges of the hand)\n", + " \n", + " \n", + " Sclerosis of the epiphyses of the phalanges of the fingers, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.\n", + " definition of HP:0010234 (Ivory epiphyses of the phalanges of the hand)\n", + " \n", + " \n", + " #Increased bone density of end part of the hand bones #Ivory epiphyses of the fingers #Sclerotic ivory phalangeal epiphyses\n", + " definition of HP:0010234 (Ivory epiphyses of the phalanges of the hand)\n", + " \n", + " \n", + " Anti-GAD65 antibody\n", + " definition of HP:5000011 (Anti-GAD65 antibody)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glutamic acid decarboxylase 65 (GAD65).\n", + " definition of HP:5000011 (Anti-GAD65 antibody)\n", + " \n", + " \n", + " #Anti-glutamic acid decarboxylase 65 antibody\n", + " definition of HP:5000011 (Anti-GAD65 antibody)\n", + " \n", + " \n", + " Criss-cross atrioventricular valves with superior-inferior ventricles\n", + " definition of HP:0011542 (Criss-cross atrioventricular valves with superior-inferior ventricles)\n", + " \n", + " \n", + " Criss-cross atrioventricular valves with a rare cardiac malformation characterized by the two ventricles lying one above the other instead of side by side.\n", + " definition of HP:0011542 (Criss-cross atrioventricular valves with superior-inferior ventricles)\n", + " \n", + " \n", + " Acute emergence over hours\n", + " definition of HP:0025307 (Acute emergence over hours)\n", + " \n", + " \n", + " Acute appearance of disease manifestations in a period of hours.\n", + " definition of HP:0025307 (Acute emergence over hours)\n", + " \n", + " \n", + " Cyclic esotropia\n", + " definition of HP:0031763 (Cyclic esotropia)\n", + " \n", + " \n", + " Convergent strabismus in which normal binocular single vision is alternating with large angle esotropia in rhythmic cycle.\n", + " definition of HP:0031763 (Cyclic esotropia)\n", + " \n", + " \n", + " Laryngomalacia\n", + " definition of HP:0001601 (Laryngomalacia)\n", + " \n", + " \n", + " Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration.\n", + " definition of HP:0001601 (Laryngomalacia)\n", + " \n", + " \n", + " #Softening of voice box tissue\n", + " definition of HP:0001601 (Laryngomalacia)\n", + " \n", + " \n", + " Palmomental reflex\n", + " definition of HP:0030902 (Palmomental reflex)\n", + " \n", + " \n", + " A type of primitive reflex characterized by an involuntary contraction of the mentalis muscle of the chin caused by stimulation of the thenar eminence of the palm.\n", + " definition of HP:0030902 (Palmomental reflex)\n", + " \n", + " \n", + " Triangular shaped distal phalanx of the hallux\n", + " definition of HP:0010083 (Triangular shaped distal phalanx of the hallux)\n", + " \n", + " \n", + " #Triangular shaped outermost bone of the big toe\n", + " definition of HP:0010083 (Triangular shaped distal phalanx of the hallux)\n", + " \n", + " \n", + " Nasolacrimal duct obstruction\n", + " definition of HP:0000579 (Nasolacrimal duct obstruction)\n", + " \n", + " \n", + " Blockage of the lacrimal duct.\n", + " definition of HP:0000579 (Nasolacrimal duct obstruction)\n", + " \n", + " \n", + " #Blocked tear duct #Lacrimal duct obstruction\n", + " definition of HP:0000579 (Nasolacrimal duct obstruction)\n", + " \n", + " \n", + " Anterior concavity of thoracic vertebrae\n", + " definition of HP:0004611 (Anterior concavity of thoracic vertebrae)\n", + " \n", + " \n", + " #Anteriorly concave vertebrae\n", + " definition of HP:0004611 (Anterior concavity of thoracic vertebrae)\n", + " \n", + " \n", + " Focal manual automatism seizure\n", + " definition of HP:0032900 (Focal manual automatism seizure)\n", + " \n", + " \n", + " A type of focal automatism seizure characterized by manual automatisms at onset.\n", + " definition of HP:0032900 (Focal manual automatism seizure)\n", + " \n", + " \n", + " Maternal virilization in pregnancy\n", + " definition of HP:0008072 (Maternal virilization in pregnancy)\n", + " \n", + " \n", + " Virilization (deepening of voice, facial hirsutism and scalp hair loss) with onset during pregnancy (usually towards the end of the first trimester) and regression several months post-partum.\n", + " definition of HP:0008072 (Maternal virilization in pregnancy)\n", + " \n", + " \n", + " Typified by highly variable age of onset\n", + " definition of HP:0034857 (Typified by highly variable age of onset)\n", + " \n", + " \n", + " Description of conditions in which age of onset is highly variable even in family members who share the same disease-associated variant or variants.\n", + " definition of HP:0034857 (Typified by highly variable age of onset)\n", + " \n", + " \n", + " Curved proximal phalanx of the 4th toe\n", + " definition of HP:0100447 (Curved proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " A deviation from the normal straight form of the proximal phalanx of the fourth toe.\n", + " definition of HP:0100447 (Curved proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " #Curved innermost bone of the 4th toe\n", + " definition of HP:0100447 (Curved proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " Chaotic rapid conjugate ocular movements\n", + " definition of HP:0007295 (Chaotic rapid conjugate ocular movements)\n", + " \n", + " \n", + " Stippling of the epiphysis of the proximal phalanx of the 5th toe\n", + " definition of HP:0100233 (Stippling of the epiphysis of the proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 5th toe.\n", + " definition of HP:0100233 (Stippling of the epiphysis of the proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " #Speckled calcifications in the end part of the innermost bone of the little toe #Speckled calcifications in the end part of the innermost bone of the pinkie toe #Speckled calcifications in the end part of the innermost bone of the pinky toe\n", + " definition of HP:0100233 (Stippling of the epiphysis of the proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " Notched P wave\n", + " definition of HP:0031598 (Notched P wave)\n", + " \n", + " \n", + " V-shaped cut (notch) in the middle of the P wave.\n", + " definition of HP:0031598 (Notched P wave)\n", + " \n", + " \n", + " Partial duplication of the proximal phalanx of the 2nd finger\n", + " definition of HP:0009955 (Partial duplication of the proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Partial duplication of the second proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.\n", + " definition of HP:0009955 (Partial duplication of the proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Partial duplication of the proximal bones of the index finger\n", + " definition of HP:0009955 (Partial duplication of the proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Unbalanced atrioventricular canal defect\n", + " definition of HP:0011579 (Unbalanced atrioventricular canal defect)\n", + " \n", + " \n", + " Anatomic features of unbalanced atrioventricular septal defect (AVSD) include varying amounts of ventricular hypoplasia, as well as malalignment of the atrioventricular junction. In complete AVSD, the common AV valve can be situated either equally over the right and left ventricles (balanced) or unequally over the ventricles (unbalanced).\n", + " definition of HP:0011579 (Unbalanced atrioventricular canal defect)\n", + " \n", + " \n", + " #Unbalanced atrioventricular septal defect\n", + " definition of HP:0011579 (Unbalanced atrioventricular canal defect)\n", + " \n", + " \n", + " Maternal hyperthyroidism\n", + " definition of HP:0034778 (Maternal hyperthyroidism)\n", + " \n", + " \n", + " The mother of a fetus or index patient has a history of hyperthyroidism during the corresponding pregnancy.\n", + " definition of HP:0034778 (Maternal hyperthyroidism)\n", + " \n", + " \n", + " Prominence of the premaxilla\n", + " definition of HP:0010759 (Prominence of the premaxilla)\n", + " \n", + " \n", + " Prominent positioning of the premaxilla in relation to the rest of the maxilla, the facial skeleton, or mandible. Not necessarily caused by an increase in size (hypertrophy of) the premaxilla.\n", + " definition of HP:0010759 (Prominence of the premaxilla)\n", + " \n", + " \n", + " #Anterior position of the premaxilla #Anterior position of the primary palate bone #Premaxillary bone excess #Prominence of the intermaxillary bone #Prominence of the primary palate bone #Prominent premaxilla\n", + " definition of HP:0010759 (Prominence of the premaxilla)\n", + " \n", + " \n", + " Parageusia\n", + " definition of HP:0031249 (Parageusia)\n", + " \n", + " \n", + " A distortion of the sense of taste, often characterized by the sensation of a metallic taste.\n", + " definition of HP:0031249 (Parageusia)\n", + " \n", + " \n", + " #Altered sense of taste #Dysgeusia #Metallic taste #Metallic taste in mouth\n", + " definition of HP:0031249 (Parageusia)\n", + " \n", + " \n", + " Hypochloriduria\n", + " definition of HP:0012601 (Hypochloriduria)\n", + " \n", + " \n", + " An decreased concentration of chloride in the urine.\n", + " definition of HP:0012601 (Hypochloriduria)\n", + " \n", + " \n", + " #Decreased urinary chloride #Low urine chloride levels\n", + " definition of HP:0012601 (Hypochloriduria)\n", + " \n", + " \n", + " Infantile spasms\n", + " definition of HP:0012469 (Infantile spasms)\n", + " \n", + " \n", + " Infantile spasms represent a subset of \\"epileptic spasms\\". Infantile Spasms are epileptic spasms starting in the first year of life (infancy).\n", + " definition of HP:0012469 (Infantile spasms)\n", + " \n", + " \n", + " Urinary mulberry cells\n", + " definition of HP:0032568 (Urinary mulberry cells)\n", + " \n", + " \n", + " Distal tubular epithelial cells in which globotriaosylceramide (Gb3) has accumulated. they are the characteristic feature of Fabry disease. Urinary mulberry bodies are a component of mulberry cells that can be distinguished easily from fat particles by their inner lamellar appearance.\n", + " definition of HP:0032568 (Urinary mulberry cells)\n", + " \n", + " \n", + " Congenital shortened small intestine\n", + " definition of HP:0030889 (Congenital shortened small intestine)\n", + " \n", + " \n", + " Substantially shortened length of the small intestine as a result of a developmental defect.\n", + " definition of HP:0030889 (Congenital shortened small intestine)\n", + " \n", + " \n", + " Megacystis\n", + " definition of HP:0000021 (Megacystis)\n", + " \n", + " \n", + " Dilatation of the bladder postnatally.\n", + " definition of HP:0000021 (Megacystis)\n", + " \n", + " \n", + " Dermal papillary IgA deposition\n", + " definition of HP:0034642 (Dermal papillary IgA deposition)\n", + " \n", + " \n", + " Accumulation of immunoglobulin A (IgA) surrounding dermal papillae, which are specialized cells that support the hair follicle.\n", + " definition of HP:0034642 (Dermal papillary IgA deposition)\n", + " \n", + " \n", + " #Granular IgA deposits at the dermal papillae\n", + " definition of HP:0034642 (Dermal papillary IgA deposition)\n", + " \n", + " \n", + " Partial duplication of thumb phalanx\n", + " definition of HP:0009944 (Partial duplication of thumb phalanx)\n", + " \n", + " \n", + " A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the thumb. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.\n", + " definition of HP:0009944 (Partial duplication of thumb phalanx)\n", + " \n", + " \n", + " #Bifid thumb #Notching of thumb phalanges #Partial duplication of the phalanges of the thumb #Partial duplication of the thumb bones\n", + " definition of HP:0009944 (Partial duplication of thumb phalanx)\n", + " \n", + " \n", + " Chondritis\n", + " definition of HP:0100662 (Chondritis)\n", + " \n", + " \n", + " Inflammation of cartilage.\n", + " definition of HP:0100662 (Chondritis)\n", + " \n", + " \n", + " #Cartilage inflammation\n", + " definition of HP:0100662 (Chondritis)\n", + " \n", + " \n", + " Enlarged vestibular aqueduct\n", + " definition of HP:0011387 (Enlarged vestibular aqueduct)\n", + " \n", + " \n", + " Increased size of the vestibular aqueduct.\n", + " definition of HP:0011387 (Enlarged vestibular aqueduct)\n", + " \n", + " \n", + " #Dilated vestibular aqueduct #Widened vestibular aqueduct\n", + " definition of HP:0011387 (Enlarged vestibular aqueduct)\n", + " \n", + " \n", + " Proximal tapering of metacarpals\n", + " definition of HP:0006119 (Proximal tapering of metacarpals)\n", + " \n", + " \n", + " Some or all of the metacarpal bones (i.e., metacarpal II to V) have a pointed proximal appearance.\n", + " definition of HP:0006119 (Proximal tapering of metacarpals)\n", + " \n", + " \n", + " #Pointed innermost long bone of hand #Pointed proximal metacarpals\n", + " definition of HP:0006119 (Proximal tapering of metacarpals)\n", + " \n", + " \n", + " Aplasia of the distal phalanx of the hallux\n", + " definition of HP:0010102 (Aplasia of the distal phalanx of the hallux)\n", + " \n", + " \n", + " #Absent outermost bone of big toe\n", + " definition of HP:0010102 (Aplasia of the distal phalanx of the hallux)\n", + " \n", + " \n", + " Elevated circulating deoxypyridinoline concentration\n", + " definition of HP:0033154 (Elevated circulating deoxypyridinoline concentration)\n", + " \n", + " \n", + " An increased concentration of lysyl-pyridinoline (deoxypyridinoline) cross-links in the blood circulation.\n", + " definition of HP:0033154 (Elevated circulating deoxypyridinoline concentration)\n", + " \n", + " \n", + " Intrarenal abscess\n", + " definition of HP:0032620 (Intrarenal abscess)\n", + " \n", + " \n", + " An encapsulated collection of pus and necrotic material within the renal parenchyma. The destruction of renal parenchyma is associated with suppurative/neutrophil-rich inflammation and necrosis.\n", + " definition of HP:0032620 (Intrarenal abscess)\n", + " \n", + " \n", + " #Renal abscess #Renal parenchymal abscess\n", + " definition of HP:0032620 (Intrarenal abscess)\n", + " \n", + " \n", + " Optic ataxia\n", + " definition of HP:0031868 (Optic ataxia)\n", + " \n", + " \n", + " Difficulty reaching visually guided goals in peripheral vision, with the deficit, leaves voluntary eye movements largely unaffected.\n", + " definition of HP:0031868 (Optic ataxia)\n", + " \n", + " \n", + " Stiff knee\n", + " definition of HP:0025263 (Stiff knee)\n", + " \n", + " \n", + " A sensation of tightness in the knee joint when attempting to move it, especially after a period of inactivity.\n", + " definition of HP:0025263 (Stiff knee)\n", + " \n", + " \n", + " #Knee stiffness #Stiff knee\n", + " definition of HP:0025263 (Stiff knee)\n", + " \n", + " \n", + " Impaired pathogen-specific CD8 cytoxicity\n", + " definition of HP:0031403 (Impaired pathogen-specific CD8 cytoxicity)\n", + " \n", + " \n", + " Impaired response of CD8 T cells to pathogens. CD8 T cells direct the killing of a target cell through the release of granules containing cytotoxic mediators or through the engagement of death receptors.\n", + " definition of HP:0031403 (Impaired pathogen-specific CD8 cytoxicity)\n", + " \n", + " \n", + " #Pathogen-specific CD8 cytoxicity defect\n", + " definition of HP:0031403 (Impaired pathogen-specific CD8 cytoxicity)\n", + " \n", + " \n", + " Unossified sacrum\n", + " definition of HP:0030290 (Unossified sacrum)\n", + " \n", + " \n", + " Lack of ossification of the sacrum.\n", + " definition of HP:0030290 (Unossified sacrum)\n", + " \n", + " \n", + " #Absence of sacrum ossification\n", + " definition of HP:0030290 (Unossified sacrum)\n", + " \n", + " \n", + " Elevated ciculating 5-hydroxymethyluracil concentration\n", + " definition of HP:0034596 (Elevated ciculating 5-hydroxymethyluracil concentration)\n", + " \n", + " \n", + " An increased concentration of 5-hydroxymethyluracil in the blood circulation.\n", + " definition of HP:0034596 (Elevated ciculating 5-hydroxymethyluracil concentration)\n", + " \n", + " \n", + " #5-hydroxymethyluracil high in blood\n", + " definition of HP:0034596 (Elevated ciculating 5-hydroxymethyluracil concentration)\n", + " \n", + " \n", + " Multinucleated neuron\n", + " definition of HP:4000150 (Multinucleated neuron)\n", + " \n", + " \n", + " Neurons that contain more than one nucleus.\n", + " definition of HP:4000150 (Multinucleated neuron)\n", + " \n", + " \n", + " Decreased mid-arm muscle circumference\n", + " definition of HP:0033449 (Decreased mid-arm muscle circumference)\n", + " \n", + " \n", + " Reduction of the midupper arm circumference midway between the acromion and olecranon processes of the ulna with the use of a steel or fiberglass tape. This measure is a proxy for the muscle mass of the upper arm and can be used as a part of the assessment of nutritional status in children.\n", + " definition of HP:0033449 (Decreased mid-arm muscle circumference)\n", + " \n", + " \n", + " Hyperkeratotic papule\n", + " definition of HP:0045059 (Hyperkeratotic papule)\n", + " \n", + " \n", + " A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point that is composed of localized hyperkeratosis (the latter may be demonstrated histopathologically).\n", + " definition of HP:0045059 (Hyperkeratotic papule)\n", + " \n", + " \n", + " Impaired pain sensation\n", + " definition of HP:0007328 (Impaired pain sensation)\n", + " \n", + " \n", + " Reduced ability to perceive painful stimuli.\n", + " definition of HP:0007328 (Impaired pain sensation)\n", + " \n", + " \n", + " #Decreased pain sensation #Decreased pinprick sensation #Impaired pain sensation\n", + " definition of HP:0007328 (Impaired pain sensation)\n", + " \n", + " \n", + " Large hands\n", + " definition of HP:0001176 (Large hands)\n", + " \n", + " \n", + " #Disproportionately large hands #large hand #Large hands\n", + " definition of HP:0001176 (Large hands)\n", + " \n", + " \n", + " Abnormal circulating hyaluronic acid concentration\n", + " definition of HP:0031210 (Abnormal circulating hyaluronic acid concentration)\n", + " \n", + " \n", + " A deviation from the normal concentration of hyaluronic acid in the blood.\n", + " definition of HP:0031210 (Abnormal circulating hyaluronic acid concentration)\n", + " \n", + " \n", + " Reduced hepatic alanine-glyoxylate aminotransferase activity\n", + " definition of HP:0035005 (Reduced hepatic alanine-glyoxylate aminotransferase activity)\n", + " \n", + " \n", + " Activity of alanine-glyoxylate aminotransferase in the liver below the lower limit of normal.\n", + " definition of HP:0035005 (Reduced hepatic alanine-glyoxylate aminotransferase activity)\n", + " \n", + " \n", + " Prosthetic heart valve\n", + " definition of HP:6000227 (Prosthetic heart valve)\n", + " \n", + " \n", + " A past surgical history of the implanation of an artificial heart valve.\n", + " definition of HP:6000227 (Prosthetic heart valve)\n", + " \n", + " \n", + " Hepatic hemangioma\n", + " definition of HP:0031207 (Hepatic hemangioma)\n", + " \n", + " \n", + " A congenital vascular malformation in the liver composed of masses of blood vessels that are atypical or irregular in arrangement and size.\n", + " definition of HP:0031207 (Hepatic hemangioma)\n", + " \n", + " \n", + " #Hemangioma of the liver #Liver hemangioma\n", + " definition of HP:0031207 (Hepatic hemangioma)\n", + " \n", + " \n", + " Elevated circulating fibroblast growth factor 23 concentration\n", + " definition of HP:6000407 (Elevated circulating fibroblast growth factor 23 concentration)\n", + " \n", + " \n", + " The concentration of fibroblast growth factor 23 in the blood circulation is above the upper limit of normal.\n", + " definition of HP:6000407 (Elevated circulating fibroblast growth factor 23 concentration)\n", + " \n", + " \n", + " Mildly reduced visual acuity\n", + " definition of HP:0032037 (Mildly reduced visual acuity)\n", + " \n", + " \n", + " Mild reduction of the ability to see. On the 6m visual acuity scale, mild reduction is defined as less than 6/12 but at least 6/18. On the 20ft visual acuity scale, mild reduction is defined as less than 20/40 but at least 20/70. On the decimal visual acuity scale, mild reduction is defined as less than 0.5 but at least 0.3.\n", + " definition of HP:0032037 (Mildly reduced visual acuity)\n", + " \n", + " \n", + " #Mild reduction in visual acuity #Mild vision loss #Mild visual loss\n", + " definition of HP:0032037 (Mildly reduced visual acuity)\n", + " \n", + " \n", + " Cone-shaped epiphysis of the proximal phalanx of the 3rd finger\n", + " definition of HP:0009348 (Cone-shaped epiphysis of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " A cone-shaped appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.\n", + " definition of HP:0009348 (Cone-shaped epiphysis of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Cone-shaped end part of the innermost bone of the middle finger\n", + " definition of HP:0009348 (Cone-shaped epiphysis of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Abnormal circulating C-reactive protein concentration\n", + " definition of HP:0032436 (Abnormal circulating C-reactive protein concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of C-reactive protein in the blood circulation.\n", + " definition of HP:0032436 (Abnormal circulating C-reactive protein concentration)\n", + " \n", + " \n", + " #Abnormal C-reactive protein level\n", + " definition of HP:0032436 (Abnormal circulating C-reactive protein concentration)\n", + " \n", + " \n", + " Abnormality of reproductive system physiology\n", + " definition of HP:0000080 (Abnormality of reproductive system physiology)\n", + " \n", + " \n", + " An abnormal functionality of the genital system.\n", + " definition of HP:0000080 (Abnormality of reproductive system physiology)\n", + " \n", + " \n", + " #Abnormality of reproductive system physiology #Genital functional abnormality\n", + " definition of HP:0000080 (Abnormality of reproductive system physiology)\n", + " \n", + " \n", + " Shoulder contracture\n", + " definition of HP:0034665 (Shoulder contracture)\n", + " \n", + " \n", + " Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the shoulder joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.\n", + " definition of HP:0034665 (Shoulder contracture)\n", + " \n", + " \n", + " Delayed ossification of pubic rami\n", + " definition of HP:0008785 (Delayed ossification of pubic rami)\n", + " \n", + " \n", + " Delayed maturation and calcification of the rami (branches) of the pubic bone.\n", + " definition of HP:0008785 (Delayed ossification of pubic rami)\n", + " \n", + " \n", + " Decreased number of vertebrae\n", + " definition of HP:0030305 (Decreased number of vertebrae)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the liver\n", + " definition of HP:0034181 (Aplasia/Hypoplasia of the liver)\n", + " \n", + " \n", + " Absence or underdevelopment of the liver.\n", + " definition of HP:0034181 (Aplasia/Hypoplasia of the liver)\n", + " \n", + " \n", + " Heterophoria\n", + " definition of HP:0032011 (Heterophoria)\n", + " \n", + " \n", + " Heterophorias are latent deviations that are controlled by fusion. In certain circumstances (specific visual tasks, fatigue, illness, etc.), fusion can no longer be maintained and decompensation occurs.\n", + " definition of HP:0032011 (Heterophoria)\n", + " \n", + " \n", + " Abnormality of procerus muscle\n", + " definition of HP:3000014 (Abnormality of procerus muscle)\n", + " \n", + " \n", + " An abnormality of a procerus.\n", + " definition of HP:3000014 (Abnormality of procerus muscle)\n", + " \n", + " \n", + " Kayser-Fleischer ring\n", + " definition of HP:0200032 (Kayser-Fleischer ring)\n", + " \n", + " \n", + " Grey-green or brownish-pigmented ring in the deep epithelial layers at the outer border of the cornea.\n", + " definition of HP:0200032 (Kayser-Fleischer ring)\n", + " \n", + " \n", + " #Fleischer's ring #Fleischer-Kayser ring #Fleischer-Struempell ring\n", + " definition of HP:0200032 (Kayser-Fleischer ring)\n", + " \n", + " \n", + " Abnormal blood potassium concentration\n", + " definition of HP:0011042 (Abnormal blood potassium concentration)\n", + " \n", + " \n", + " An abnormal concentration of potassium.\n", + " definition of HP:0011042 (Abnormal blood potassium concentration)\n", + " \n", + " \n", + " #Abnormal blood K concentration #Abnormality of potassium homeostasis\n", + " definition of HP:0011042 (Abnormal blood potassium concentration)\n", + " \n", + " \n", + " Mesoaxial foot polydactyly\n", + " definition of HP:0010112 (Mesoaxial foot polydactyly)\n", + " \n", + " \n", + " The presence of a supernumerary toe (not a hallux) involving the third or fourth metatarsal with associated osseous syndactyly.\n", + " definition of HP:0010112 (Mesoaxial foot polydactyly)\n", + " \n", + " \n", + " #Central polydactyly of feet\n", + " definition of HP:0010112 (Mesoaxial foot polydactyly)\n", + " \n", + " \n", + " Abnormal nasal skeleton morphology\n", + " definition of HP:0010937 (Abnormal nasal skeleton morphology)\n", + " \n", + " \n", + " An abnormality of the nasal skeleton.\n", + " definition of HP:0010937 (Abnormal nasal skeleton morphology)\n", + " \n", + " \n", + " #Abnormality of the nasal skeleton #Anomaly of the nasal skeleton\n", + " definition of HP:0010937 (Abnormal nasal skeleton morphology)\n", + " \n", + " \n", + " Radial dysplasia\n", + " definition of HP:0006433 (Radial dysplasia)\n", + " \n", + " \n", + " Radial dysplasia, also known as radial longitudinal deficiency, includes radial clubhand and is a disfiguring, and potentially disabling, congenital limb anomaly. The entire upper limb may be involved, although the defect is most evident in the forearm and hand. Affected children suffer a variable degree of hypoplasia or absence of the preaxial skeleton and soft tissues, in particular the thumb, radius, and dorsoradial soft tissues. The hand is usually radially deviated and subluxated off the distal aspect of the ulna, the ulna may be shortened and have a bow-shaped deformity, and there is no true wrist (radiocarpal) joint in Bayne2 type-III and IV radial dysplasia.\n", + " definition of HP:0006433 (Radial dysplasia)\n", + " \n", + " \n", + " #Dysplastic radii #Radial longitudinal deficiency\n", + " definition of HP:0006433 (Radial dysplasia)\n", + " \n", + " \n", + " Elevated RV/TLC ratio\n", + " definition of HP:0033240 (Elevated RV/TLC ratio)\n", + " \n", + " \n", + " An increase in the ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining aftermaximal expiration and TLC is the total amount of air in theungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and (3) body plethysmography. An elevated RV/TLC can be interpreted as a sign of air trapping and hyperinflation.\n", + " definition of HP:0033240 (Elevated RV/TLC ratio)\n", + " \n", + " \n", + " Coxa vara\n", + " definition of HP:0002812 (Coxa vara)\n", + " \n", + " \n", + " Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees.\n", + " definition of HP:0002812 (Coxa vara)\n", + " \n", + " \n", + " Increased muscle fatiguability\n", + " definition of HP:0003750 (Increased muscle fatiguability)\n", + " \n", + " \n", + " An abnormal, increased fatiguability of the musculature.\n", + " definition of HP:0003750 (Increased muscle fatiguability)\n", + " \n", + " \n", + " Abnormal circulating interleukin 10 concentration\n", + " definition of HP:0034162 (Abnormal circulating interleukin 10 concentration)\n", + " \n", + " \n", + " Any deviation from the normal range of the concentration of interleukin 10 in the blood circulation.\n", + " definition of HP:0034162 (Abnormal circulating interleukin 10 concentration)\n", + " \n", + " \n", + " True ependymal rosette\n", + " definition of HP:0031928 (True ependymal rosette)\n", + " \n", + " \n", + " A type of rosette in which a halo of cells surrounds an empty lumen.\n", + " definition of HP:0031928 (True ependymal rosette)\n", + " \n", + " \n", + " Lymphoid leukemia\n", + " definition of HP:0005526 (Lymphoid leukemia)\n", + " \n", + " \n", + " A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias.\n", + " definition of HP:0005526 (Lymphoid leukemia)\n", + " \n", + " \n", + " #Lymphoid leukaemia\n", + " definition of HP:0005526 (Lymphoid leukemia)\n", + " \n", + " \n", + " Lymph node abscess\n", + " definition of HP:0033136 (Lymph node abscess)\n", + " \n", + " \n", + " An inflamed lymph node that is filled with pus.\n", + " definition of HP:0033136 (Lymph node abscess)\n", + " \n", + " \n", + " Osteoid osteoma\n", + " definition of HP:0030433 (Osteoid osteoma)\n", + " \n", + " \n", + " A bening tumor of bone composed of a central zone named nidus which is an atypical bone completely enclosed within a well vascularized stroma and a peripheral sclerotic reaction zone.\n", + " definition of HP:0030433 (Osteoid osteoma)\n", + " \n", + " \n", + " EEG with frontal focal spikes\n", + " definition of HP:0012015 (EEG with frontal focal spikes)\n", + " \n", + " \n", + " EEG with focal sharp transient waves of a duration less than 80 msec in the frontal region.\n", + " definition of HP:0012015 (EEG with frontal focal spikes)\n", + " \n", + " \n", + " Glomerulonephritis\n", + " definition of HP:0000099 (Glomerulonephritis)\n", + " \n", + " \n", + " Inflammation of the renal glomeruli.\n", + " definition of HP:0000099 (Glomerulonephritis)\n", + " \n", + " \n", + " #Glomerular nephritis\n", + " definition of HP:0000099 (Glomerulonephritis)\n", + " \n", + " \n", + " Hyperventilation\n", + " definition of HP:0002883 (Hyperventilation)\n", + " \n", + " \n", + " Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide.\n", + " definition of HP:0002883 (Hyperventilation)\n", + " \n", + " \n", + " #Rapid breathing\n", + " definition of HP:0002883 (Hyperventilation)\n", + " \n", + " \n", + " Hypermagnesemia\n", + " definition of HP:0002918 (Hypermagnesemia)\n", + " \n", + " \n", + " An abnormally increased magnesium concentration in the blood.\n", + " definition of HP:0002918 (Hypermagnesemia)\n", + " \n", + " \n", + " #High blood magnesium levels #High blood Mg levels\n", + " definition of HP:0002918 (Hypermagnesemia)\n", + " \n", + " \n", + " Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis\n", + " definition of HP:0011657 (Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis)\n", + " \n", + " \n", + " A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.\n", + " definition of HP:0011657 (Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis)\n", + " \n", + " \n", + " #DORV with subpulmonary VSD and pulmonary stenosis\n", + " definition of HP:0011657 (Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis)\n", + " \n", + " \n", + " Edema\n", + " definition of HP:0000969 (Edema)\n", + " \n", + " \n", + " An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.\n", + " definition of HP:0000969 (Edema)\n", + " \n", + " \n", + " #Dropsy #Fluid retention #Hydrops #Oedema #Water retention\n", + " definition of HP:0000969 (Edema)\n", + " \n", + " \n", + " Dysfibrinogenemia\n", + " definition of HP:0011901 (Dysfibrinogenemia)\n", + " \n", + " \n", + " Qualitatively abnormal fibrinogen.\n", + " definition of HP:0011901 (Dysfibrinogenemia)\n", + " \n", + " \n", + " #Dysfibrinogenaemia\n", + " definition of HP:0011901 (Dysfibrinogenemia)\n", + " \n", + " \n", + " Chorioretinal degeneration\n", + " definition of HP:0200065 (Chorioretinal degeneration)\n", + " \n", + " \n", + " Blue urine\n", + " definition of HP:0040317 (Blue urine)\n", + " \n", + " \n", + " An abnormal blue color of the urine.\n", + " definition of HP:0040317 (Blue urine)\n", + " \n", + " \n", + " Cone-shaped epiphyses of the 2nd finger\n", + " definition of HP:0009490 (Cone-shaped epiphyses of the 2nd finger)\n", + " \n", + " \n", + " A cone-shaped appearance of the epiphyses of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.\n", + " definition of HP:0009490 (Cone-shaped epiphyses of the 2nd finger)\n", + " \n", + " \n", + " #Cone-shaped end part of the index finger\n", + " definition of HP:0009490 (Cone-shaped epiphyses of the 2nd finger)\n", + " \n", + " \n", + " Absent muscle fiber alpha sarcoglycan\n", + " definition of HP:0030101 (Absent muscle fiber alpha sarcoglycan)\n", + " \n", + " \n", + " Lack of alpha sarcoglycan in muscle. Immunohistochemistry reveals absent alpha sarcoglycan protein in the muscle biopsy.\n", + " definition of HP:0030101 (Absent muscle fiber alpha sarcoglycan)\n", + " \n", + " \n", + " #Absent muscle fibre alpha sarcoglycan\n", + " definition of HP:0030101 (Absent muscle fiber alpha sarcoglycan)\n", + " \n", + " \n", + " Erythema migrans\n", + " definition of HP:0031180 (Erythema migrans)\n", + " \n", + " \n", + " An expanding erythematous (red) skin lesion, usually round or oval, by definition at least 5 cm in size (in largest diameter).\n", + " definition of HP:0031180 (Erythema migrans)\n", + " \n", + " \n", + " #Erythema chronicum migrans\n", + " definition of HP:0031180 (Erythema migrans)\n", + " \n", + " \n", + " Decreased post-bronchodilator forced vital capacity\n", + " definition of HP:0032357 (Decreased post-bronchodilator forced vital capacity)\n", + " \n", + " \n", + " An abnormal reduction in the amount of air a person can expel following maximal insipiration, with the test being performed after the administration of a bronchodilating medication.\n", + " definition of HP:0032357 (Decreased post-bronchodilator forced vital capacity)\n", + " \n", + " \n", + " #Decreased post bronchodilator forced vital capacity #Decreased postbronchodilator forced vital capacity\n", + " definition of HP:0032357 (Decreased post-bronchodilator forced vital capacity)\n", + " \n", + " \n", + " Congenital hepatic fibrosis\n", + " definition of HP:0002612 (Congenital hepatic fibrosis)\n", + " \n", + " \n", + " The presence of fibrosis of that part of the liver with congenital onset.\n", + " definition of HP:0002612 (Congenital hepatic fibrosis)\n", + " \n", + " \n", + " #Congenital liver fibrosis #Excessive buildup of connective tissue and scarring of liver at birth\n", + " definition of HP:0002612 (Congenital hepatic fibrosis)\n", + " \n", + " \n", + " Exacerbated by head trauma\n", + " definition of HP:0025315 (Exacerbated by head trauma)\n", + " \n", + " \n", + " Applies to a sign or symptom that is worsened, aggravated, or exacerbated by head trauma.\n", + " definition of HP:0025315 (Exacerbated by head trauma)\n", + " \n", + " \n", + " Freckles in sun-exposed areas\n", + " definition of HP:0007603 (Freckles in sun-exposed areas)\n", + " \n", + " \n", + " #Freckles in sun-exposed areas\n", + " definition of HP:0007603 (Freckles in sun-exposed areas)\n", + " \n", + " \n", + " Abnormal response to human chorionic gonadotrophin stimulation test\n", + " definition of HP:0031083 (Abnormal response to human chorionic gonadotrophin stimulation test)\n", + " \n", + " \n", + " An anomalous response to intravenous stimulation by human chorionic gonadotrophin. Stimulation with hCG stimulates testicular Leydig cells to secrete androgens via the Leydig hormone receptors.\n", + " definition of HP:0031083 (Abnormal response to human chorionic gonadotrophin stimulation test)\n", + " \n", + " \n", + " #Abnormal response to hCG stimulation test\n", + " definition of HP:0031083 (Abnormal response to human chorionic gonadotrophin stimulation test)\n", + " \n", + " \n", + " Latent hypermetropia\n", + " definition of HP:0500042 (Latent hypermetropia)\n", + " \n", + " \n", + " A term to describe when farsightedness is masked when the accommodative muscles are used to increase the focusing power of the eye.\n", + " definition of HP:0500042 (Latent hypermetropia)\n", + " \n", + " \n", + " #Latent hyperopia\n", + " definition of HP:0500042 (Latent hypermetropia)\n", + " \n", + " \n", + " Osteoporosis of vertebrae\n", + " definition of HP:0005625 (Osteoporosis of vertebrae)\n", + " \n", + " \n", + " Osteoporosis affecting predominantly the vertebrae.\n", + " definition of HP:0005625 (Osteoporosis of vertebrae)\n", + " \n", + " \n", + " Fragmentation of the epiphyses of the 5th finger\n", + " definition of HP:0009386 (Fragmentation of the epiphyses of the 5th finger)\n", + " \n", + " \n", + " Fragmented appearance of the epiphyses of the 5th finger.\n", + " definition of HP:0009386 (Fragmentation of the epiphyses of the 5th finger)\n", + " \n", + " \n", + " #Fragmentation of the end part of the little finger bones #Fragmentation of the end part of the pinkie finger bones #Fragmentation of the end part of the pinky finger bones\n", + " definition of HP:0009386 (Fragmentation of the epiphyses of the 5th finger)\n", + " \n", + " \n", + " Pseudoepiphysis of the distal phalanx of the 3rd finger\n", + " definition of HP:0009342 (Pseudoepiphysis of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " A secondary ossification center in the distal phalanx of the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.\n", + " definition of HP:0009342 (Pseudoepiphysis of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Pseudoepiphysis of the outermost bone of the middle finger\n", + " definition of HP:0009342 (Pseudoepiphysis of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Idiopathic anaphylaxis\n", + " definition of HP:0410148 (Idiopathic anaphylaxis)\n", + " \n", + " \n", + " A rare form of anaphylaxis for which triggers cannot be identified despite a detailed history and careful diagnostic assessment.\n", + " definition of HP:0410148 (Idiopathic anaphylaxis)\n", + " \n", + " \n", + " Seizure cluster\n", + " definition of HP:0033349 (Seizure cluster)\n", + " \n", + " \n", + " A fourfold or greater increase of usual seizure frequency within a 3-day period, where the patient demonstrates full recovery between seizure events within the cluster. The seizure cluster should be recognizable by the primary clinician, carer or patient.\n", + " definition of HP:0033349 (Seizure cluster)\n", + " \n", + " \n", + " #Acute repetitive seizures #Crescendo seizures #Cyclical seizures #Recurrent seizures #Seizure flurries #Serial seizures\n", + " definition of HP:0033349 (Seizure cluster)\n", + " \n", + " \n", + " Extremely elevated creatine kinase\n", + " definition of HP:0030235 (Extremely elevated creatine kinase)\n", + " \n", + " \n", + " An increased creatine kinase level more than 50X above the upper normal level.\n", + " definition of HP:0030235 (Extremely elevated creatine kinase)\n", + " \n", + " \n", + " #Extremely elevated CPK #Extremely elevated creatine phosphokinase #Extremely elevated phospho-CK serum level #Extremely elevated serum CK level #Extremely high CPK level\n", + " definition of HP:0030235 (Extremely elevated creatine kinase)\n", + " \n", + " \n", + " Abnormal delivery\n", + " definition of HP:0001787 (Abnormal delivery)\n", + " \n", + " \n", + " An abnormality of the birth process.\n", + " definition of HP:0001787 (Abnormal delivery)\n", + " \n", + " \n", + " #Abnormal delivery #Delivery complication\n", + " definition of HP:0001787 (Abnormal delivery)\n", + " \n", + " \n", + " Hypoplasia of the olfactory bulb\n", + " definition of HP:0040326 (Hypoplasia of the olfactory bulb)\n", + " \n", + " \n", + " Underdevelopment of the olfactory bulb.\n", + " definition of HP:0040326 (Hypoplasia of the olfactory bulb)\n", + " \n", + " \n", + " #Hypoplasia of olfactory bulb #Hypoplastic olfactory bulb\n", + " definition of HP:0040326 (Hypoplasia of the olfactory bulb)\n", + " \n", + " \n", + " Delayed ability to sit\n", + " definition of HP:0025336 (Delayed ability to sit)\n", + " \n", + " \n", + " A failure to achieve the ability to sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age.\n", + " definition of HP:0025336 (Delayed ability to sit)\n", + " \n", + " \n", + " Central sleep apnea\n", + " definition of HP:0010536 (Central sleep apnea)\n", + " \n", + " \n", + " Sleep apnea results from a temporary loss of the central drive to the muscles responsible for breathing.\n", + " definition of HP:0010536 (Central sleep apnea)\n", + " \n", + " \n", + " #Central sleep apnoea\n", + " definition of HP:0010536 (Central sleep apnea)\n", + " \n", + " \n", + " Barrett esophagus\n", + " definition of HP:0100580 (Barrett esophagus)\n", + " \n", + " \n", + " An abnormal change (metaplasia) in the cells of the inferior portion of the esophagus. The normal squamous epithelium lining of the esophagus is replaced by metaplastic columnar epithelium. Columnar epithelium refers to a cell type that is typically found in more distal parts of the gastrointestinal system.\n", + " definition of HP:0100580 (Barrett esophagus)\n", + " \n", + " \n", + " #Barret syndrome #Barrett oesophagus #Barrett's esophagus #Barrett's oesophagus #Endobrachyesophagus\n", + " definition of HP:0100580 (Barrett esophagus)\n", + " \n", + " \n", + " Anti-soluble liver antigen/liver pancreas antibody positivity\n", + " definition of HP:6000186 (Anti-soluble liver antigen/liver pancreas antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against soluble liver antigen.\n", + " definition of HP:6000186 (Anti-soluble liver antigen/liver pancreas antibody positivity)\n", + " \n", + " \n", + " #Anti-SLA/LP\n", + " definition of HP:6000186 (Anti-soluble liver antigen/liver pancreas antibody positivity)\n", + " \n", + " \n", + " Erythematous macule\n", + " definition of HP:0025475 (Erythematous macule)\n", + " \n", + " \n", + " A macule (flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin) with a red or reddish color often associated with inflammation or irritation.\n", + " definition of HP:0025475 (Erythematous macule)\n", + " \n", + " \n", + " Abnormal circulating nicotinurate concentration\n", + " definition of HP:0410205 (Abnormal circulating nicotinurate concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of nicotinurate in the blood.\n", + " definition of HP:0410205 (Abnormal circulating nicotinurate concentration)\n", + " \n", + " \n", + " #Abnormal circulating N-nicotinoylglycine level #Abnormal circulating nicotinurate level\n", + " definition of HP:0410205 (Abnormal circulating nicotinurate concentration)\n", + " \n", + " \n", + " Focal impaired awareness sensory seizure with somatosensory features\n", + " definition of HP:0032890 (Focal impaired awareness sensory seizure with somatosensory features)\n", + " \n", + " \n", + " A focal sensory seizure with somatosensory features in which awareness is partially or fully impaired at some point during the seizure.\n", + " definition of HP:0032890 (Focal impaired awareness sensory seizure with somatosensory features)\n", + " \n", + " \n", + " Delusional misidentification\n", + " definition of HP:5200428 (Delusional misidentification)\n", + " \n", + " \n", + " A group of complex, monothematic delusional phenomena in which subjects hold a belief that the identity of a familiar person, object, location, or self has been altered or replaced. The majority of misidentifications are spouses or first degree relatives, i.e. someone well-known to the person.\n", + " definition of HP:5200428 (Delusional misidentification)\n", + " \n", + " \n", + " Reduced circulating complement factor H related protein 1 concentration\n", + " definition of HP:0033299 (Reduced circulating complement factor H related protein 1 concentration)\n", + " \n", + " \n", + " Decreased level of circulating complement factor H related protein 1 concentration in the blood circulation.\n", + " definition of HP:0033299 (Reduced circulating complement factor H related protein 1 concentration)\n", + " \n", + " \n", + " Myoclonic absence status epilepticus\n", + " definition of HP:0032865 (Myoclonic absence status epilepticus)\n", + " \n", + " \n", + " Myoclonic absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged myoclonic absence seizure. Myoclonic absence status epilepticus consists of proximal, predominantly upper extremity myoclonic jerks corresponding with 3 Hz spike-wave discharges in the EEG.\n", + " definition of HP:0032865 (Myoclonic absence status epilepticus)\n", + " \n", + " \n", + " Class III obesity\n", + " definition of HP:0025501 (Class III obesity)\n", + " \n", + " \n", + " Obesity with a body mass index of 40 kg per square meter or higher.\n", + " definition of HP:0025501 (Class III obesity)\n", + " \n", + " \n", + " #Obesity grade 3\n", + " definition of HP:0025501 (Class III obesity)\n", + " \n", + " \n", + " Triggered by sleep deprivation\n", + " definition of HP:0025222 (Triggered by sleep deprivation)\n", + " \n", + " \n", + " Applies to a sign or symptom that is provoked or brought about by a lack of sufficient sleep.\n", + " definition of HP:0025222 (Triggered by sleep deprivation)\n", + " \n", + " \n", + " #Sleep deprivation triggered symptoms #Triggered by sleep deprivation\n", + " definition of HP:0025222 (Triggered by sleep deprivation)\n", + " \n", + " \n", + " Abnormal corpus striatum morphology\n", + " definition of HP:0010994 (Abnormal corpus striatum morphology)\n", + " \n", + " \n", + " Abnormality of the striatum, which is the largest nucleus of the basal ganglia, comprising the caudate, putamen and ventral striatum, including the nucleus accumbens.\n", + " definition of HP:0010994 (Abnormal corpus striatum morphology)\n", + " \n", + " \n", + " #Abnormality of the neostriatum #Abnormality of the striate nucleus #Abnormality of the striatum\n", + " definition of HP:0010994 (Abnormal corpus striatum morphology)\n", + " \n", + " \n", + " Clinodactyly of the 3rd toe\n", + " definition of HP:0008115 (Clinodactyly of the 3rd toe)\n", + " \n", + " \n", + " Bending or curvature of a third toe in the tibial direction (i.e., towards the big toe).\n", + " definition of HP:0008115 (Clinodactyly of the 3rd toe)\n", + " \n", + " \n", + " #3rd toe clinodactyly\n", + " definition of HP:0008115 (Clinodactyly of the 3rd toe)\n", + " \n", + " \n", + " Submandibular lymph node enlargement\n", + " definition of HP:0033176 (Submandibular lymph node enlargement)\n", + " \n", + " \n", + " Increased size of the lymph nodes that are located beneath the mandible (lower jaw).\n", + " definition of HP:0033176 (Submandibular lymph node enlargement)\n", + " \n", + " \n", + " #Submandibular lymphadenopathy\n", + " definition of HP:0033176 (Submandibular lymph node enlargement)\n", + " \n", + " \n", + " Vitiligo\n", + " definition of HP:0001045 (Vitiligo)\n", + " \n", + " \n", + " #Blotchy loss of skin color #Blotchy loss of skin colour\n", + " definition of HP:0001045 (Vitiligo)\n", + " \n", + " \n", + " Stiff ankle\n", + " definition of HP:0025264 (Stiff ankle)\n", + " \n", + " \n", + " A sensation of tightness in the ankle joint when attempting to move it, especially after a period of inactivity.\n", + " definition of HP:0025264 (Stiff ankle)\n", + " \n", + " \n", + " #Ankle stiffness #Stiff ankle\n", + " definition of HP:0025264 (Stiff ankle)\n", + " \n", + " \n", + " High dietary oxalate intake\n", + " definition of HP:4000124 (High dietary oxalate intake)\n", + " \n", + " \n", + " A history of ingestion of a relatively high amount of foods containing high levels of oxalate, such as green-leaf vegetables, tea, nuts, chocolate and rhubarb.\n", + " definition of HP:4000124 (High dietary oxalate intake)\n", + " \n", + " \n", + " #Foods high in oxalate, high intake\n", + " definition of HP:4000124 (High dietary oxalate intake)\n", + " \n", + " \n", + " Eosinophil nuclear hypersegmentation\n", + " definition of HP:0034253 (Eosinophil nuclear hypersegmentation)\n", + " \n", + " \n", + " An excessive division of the lobes of the nucleus of eosinophils. Eosinophils with more than two nuclear lobes are commonly regarded as hypersegmented, because seventy to ninety percent of peripheral blood eosinophils have two nuclear lobes.\n", + " definition of HP:0034253 (Eosinophil nuclear hypersegmentation)\n", + " \n", + " \n", + " Hypokalemic metabolic alkalosis\n", + " definition of HP:0001960 (Hypokalemic metabolic alkalosis)\n", + " \n", + " \n", + " Subconjunctival hemorrhage\n", + " definition of HP:0011896 (Subconjunctival hemorrhage)\n", + " \n", + " \n", + " Bleeding beneath the mucous membrane that lines the inner surface of the eyelid.\n", + " definition of HP:0011896 (Subconjunctival hemorrhage)\n", + " \n", + " \n", + " #Subconjunctival haemorrhage\n", + " definition of HP:0011896 (Subconjunctival hemorrhage)\n", + " \n", + " \n", + " Broad middle phalanx of the 4th finger\n", + " definition of HP:0009293 (Broad middle phalanx of the 4th finger)\n", + " \n", + " \n", + " Increased width of the middle phalanx of the 4th finger.\n", + " definition of HP:0009293 (Broad middle phalanx of the 4th finger)\n", + " \n", + " \n", + " #Broad middle bone of the 4th finger\n", + " definition of HP:0009293 (Broad middle phalanx of the 4th finger)\n", + " \n", + " \n", + " Increased circulating interleukin 27 concentration\n", + " definition of HP:0034175 (Increased circulating interleukin 27 concentration)\n", + " \n", + " \n", + " An abnormally increased concentration of interleukin 27 in the blood circulation.\n", + " definition of HP:0034175 (Increased circulating interleukin 27 concentration)\n", + " \n", + " \n", + " Abnormal small intestinal mucosa morphology\n", + " definition of HP:0025129 (Abnormal small intestinal mucosa morphology)\n", + " \n", + " \n", + " A structural anomaly of the mucous lining of the small intestine.\n", + " definition of HP:0025129 (Abnormal small intestinal mucosa morphology)\n", + " \n", + " \n", + " Bilateral apical pulmonary fibrosis\n", + " definition of HP:0033539 (Bilateral apical pulmonary fibrosis)\n", + " \n", + " \n", + " A reticular pattern of linear or lineonodular densities in apical portions of both the right and left lungs seen initially on high-resolution computed tomography and in case of progression also on standard chest x-ray.\n", + " definition of HP:0033539 (Bilateral apical pulmonary fibrosis)\n", + " \n", + " \n", + " Enlarged epiphysis of the middle phalanx of the 5th toe\n", + " definition of HP:0100216 (Enlarged epiphysis of the middle phalanx of the 5th toe)\n", + " \n", + " \n", + " #Enlarged end part of the middle bone of the little toe #Enlarged end part of the middle bone of the pinkie toe #Enlarged end part of the middle bone of the pinky toe\n", + " definition of HP:0100216 (Enlarged epiphysis of the middle phalanx of the 5th toe)\n", + " \n", + " \n", + " Abnormal circulating carbohydrate concentration\n", + " definition of HP:0011013 (Abnormal circulating carbohydrate concentration)\n", + " \n", + " \n", + " A deviation from the normal concentration of a carbohydrate in the blood circulation.\n", + " definition of HP:0011013 (Abnormal circulating carbohydrate concentration)\n", + " \n", + " \n", + " Abnormal response to ACTH stimulation test\n", + " definition of HP:0031074 (Abnormal response to ACTH stimulation test)\n", + " \n", + " \n", + " An anomalous response to stimulation by administration of the adrenocorticotropic hormone (ACTH). ACTH stimulation normally stimulates the adrenal glands to release cortisol and adrenaline.\n", + " definition of HP:0031074 (Abnormal response to ACTH stimulation test)\n", + " \n", + " \n", + " #Abnormal response to adrenocorticotropic-hormone stimulation test #Abnormal response to corticotropin stimulation test\n", + " definition of HP:0031074 (Abnormal response to ACTH stimulation test)\n", + " \n", + " \n", + " Abnormal oral frenulum morphology\n", + " definition of HP:0000190 (Abnormal oral frenulum morphology)\n", + " \n", + " \n", + " An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth, or the presence of accessory frenula in the oral cavity.\n", + " definition of HP:0000190 (Abnormal oral frenulum morphology)\n", + " \n", + " \n", + " #Abnormality of frenum of tongue #Abnormality of lingual frenum #Abnormality of oral frenula #Abnormality of oral frenum\n", + " definition of HP:0000190 (Abnormal oral frenulum morphology)\n", + " \n", + " \n", + " Vertical clivus\n", + " definition of HP:0010559 (Vertical clivus)\n", + " \n", + " \n", + " An abnormal vertical orientation of the clivus (which normally forms a kind of slope from the sella turcica down to the region of the foramen magnum).\n", + " definition of HP:0010559 (Vertical clivus)\n", + " \n", + " \n", + " Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger\n", + " definition of HP:0009350 (Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Fragmented appearance of the epiphysis of the proximal phalanx of the 3rd finger.\n", + " definition of HP:0009350 (Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Fragmentation of end part of innermost long bone of the middle finger\n", + " definition of HP:0009350 (Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Right ventricular failure\n", + " definition of HP:0001708 (Right ventricular failure)\n", + " \n", + " \n", + " Reduced ability of the right ventricle to perform its function (to receive blood from the right atrium and to eject blood into the pulmonary artery), often leading to pitting peripheral edema, ascites, and hepatomegaly.\n", + " definition of HP:0001708 (Right ventricular failure)\n", + " \n", + " \n", + " #Impaired right ventricular function #Right ventricular impairment #Right-sided heart failure\n", + " definition of HP:0001708 (Right ventricular failure)\n", + " \n", + " \n", + " Triangular shaped thumb phalanx\n", + " definition of HP:0009657 (Triangular shaped thumb phalanx)\n", + " \n", + " \n", + " Abnormal shape of one or more phalanges of the thumb such that affected phalanges resemble a triangle.\n", + " definition of HP:0009657 (Triangular shaped thumb phalanx)\n", + " \n", + " \n", + " #Triangular shaped phalanges of the thumb #Triangular shaped thumb bone #Triangular thumb phalanges\n", + " definition of HP:0009657 (Triangular shaped thumb phalanx)\n", + " \n", + " \n", + " Non-restorative sleep\n", + " definition of HP:5200292 (Non-restorative sleep)\n", + " \n", + " \n", + " Perception of feeling unrefreshed after sleep.\n", + " definition of HP:5200292 (Non-restorative sleep)\n", + " \n", + " \n", + " #Non-refreshing sleep\n", + " definition of HP:5200292 (Non-restorative sleep)\n", + " \n", + " \n", + " Abnormal morphology of the proximal phalanx of the 5th toe\n", + " definition of HP:0010394 (Abnormal morphology of the proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " #Abnormality of the innermost bone of the little toe #Abnormality of the innermost bone of the pinkie toe #Abnormality of the innermost bone of the pinky toe\n", + " definition of HP:0010394 (Abnormal morphology of the proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " Absent proximal phalanx of thumb\n", + " definition of HP:0009637 (Absent proximal phalanx of thumb)\n", + " \n", + " \n", + " Absence of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.\n", + " definition of HP:0009637 (Absent proximal phalanx of thumb)\n", + " \n", + " \n", + " #Absent innermost thumb bone #Absent ossification/absent proximal thumb phalanx #Aplasia of the proximal phalanx of the thumb\n", + " definition of HP:0009637 (Absent proximal phalanx of thumb)\n", + " \n", + " \n", + " Aplasia/hypoplasia of the proximal phalanx of the 5th toe\n", + " definition of HP:0100377 (Aplasia/hypoplasia of the proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " Absence (agenesis) or underdevelopment of the proximal phalanx of the 5th toe.\n", + " definition of HP:0100377 (Aplasia/hypoplasia of the proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " #Absent/small innermost little toe bone #Absent/small innermost pinkie toe bone #Absent/small innermost pinky toe bone #Absent/underdeveloped innermost 5th toe bone\n", + " definition of HP:0100377 (Aplasia/hypoplasia of the proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " Skeletal muscle hypertrophy\n", + " definition of HP:0003712 (Skeletal muscle hypertrophy)\n", + " \n", + " \n", + " Abnormal increase in muscle size and mass not due to training.\n", + " definition of HP:0003712 (Skeletal muscle hypertrophy)\n", + " \n", + " \n", + " #Hypertrophic muscles #Increased skeletal muscle cells #Muscle hypertrophy #Muscular hypertrophy\n", + " definition of HP:0003712 (Skeletal muscle hypertrophy)\n", + " \n", + " \n", + " Intranuclear cardiomyocyte mitochondria\n", + " definition of HP:0031336 (Intranuclear cardiomyocyte mitochondria)\n", + " \n", + " \n", + " Abnormal localization of mitochondria within the nuclei of cardiomyocytes.\n", + " definition of HP:0031336 (Intranuclear cardiomyocyte mitochondria)\n", + " \n", + " \n", + " Tubo-ovarian abscess\n", + " definition of HP:0034493 (Tubo-ovarian abscess)\n", + " \n", + " \n", + " A tubo-ovarian abscess (TOA) is a complex infectious mass of the adnexa that forms as a sequela of pelvic inflammatory disease.\n", + " definition of HP:0034493 (Tubo-ovarian abscess)\n", + " \n", + " \n", + " Maternal household cat exposure\n", + " definition of HP:6000784 (Maternal household cat exposure)\n", + " \n", + " \n", + " The mother of a fetus or index patient has a history of regular exposure to one or more cats, e.g., in the household.\n", + " definition of HP:6000784 (Maternal household cat exposure)\n", + " \n", + " \n", + " Palate fistula\n", + " definition of HP:0010294 (Palate fistula)\n", + " \n", + " \n", + " A fistula which connects the oral cavity and the pharyngeal area via the aspects of the soft palate.\n", + " definition of HP:0010294 (Palate fistula)\n", + " \n", + " \n", + " Abnormal carbon dioxide level in cord blood\n", + " definition of HP:0500258 (Abnormal carbon dioxide level in cord blood)\n", + " \n", + " \n", + " Abnormal amount of carbon dioxide in umbilical cord blood\n", + " definition of HP:0500258 (Abnormal carbon dioxide level in cord blood)\n", + " \n", + " \n", + " #Abnormal CO2 level in cord blood #Abnormal umbilical cord blood levels of carbon dioxide\n", + " definition of HP:0500258 (Abnormal carbon dioxide level in cord blood)\n", + " \n", + " \n", + " Livestock exposure\n", + " definition of HP:6000528 (Livestock exposure)\n", + " \n", + " \n", + " A medical history of having been exposed to livestock (animals such as cattle and sheep which are kept on a farm ).\n", + " definition of HP:6000528 (Livestock exposure)\n", + " \n", + " \n", + " Orthostatic syncope\n", + " definition of HP:0012670 (Orthostatic syncope)\n", + " \n", + " \n", + " Syncope following a quick change in position from lying down to standing.\n", + " definition of HP:0012670 (Orthostatic syncope)\n", + " \n", + " \n", + " Abnormality of the calcaneus\n", + " definition of HP:0008364 (Abnormality of the calcaneus)\n", + " \n", + " \n", + " An abnormality of the calcaneus, also known as the heel bone, one of the or heel bone, one of the components of the tarsus of the foot which make up the heel.\n", + " definition of HP:0008364 (Abnormality of the calcaneus)\n", + " \n", + " \n", + " #Abnormal heel bone\n", + " definition of HP:0008364 (Abnormality of the calcaneus)\n", + " \n", + " \n", + " Feculent vomiting\n", + " definition of HP:0025089 (Feculent vomiting)\n", + " \n", + " \n", + " Vomiting of material that is of fecal origin.\n", + " definition of HP:0025089 (Feculent vomiting)\n", + " \n", + " \n", + " #Faecal vomiting #Fecal vomiting #Stercoraceous vomiting #Vomiting faecal matter #Vomiting fecal matter\n", + " definition of HP:0025089 (Feculent vomiting)\n", + " \n", + " \n", + " Colonic atresia\n", + " definition of HP:0010448 (Colonic atresia)\n", + " \n", + " \n", + " A developmental defect resulting in complete obliteration of the lumen of the colon. That is, there is an abnormal closure, or atresia of the tubular structure of the colon.\n", + " definition of HP:0010448 (Colonic atresia)\n", + " \n", + " \n", + " #Atresia of the large intestine #Large intestinal atresia\n", + " definition of HP:0010448 (Colonic atresia)\n", + " \n", + " \n", + " Sebaceous hyperplasia\n", + " definition of HP:0032227 (Sebaceous hyperplasia)\n", + " \n", + " \n", + " A common, benign skin condition involving hypertrophy of the sebaceous glands characterized by single or multiple lesions that manifest as yellow, soft, small papules with umbilication. The lesions are located commonly on the central face (specifically, the nose, cheeks and forehead) but may also occur elsewhere, including the chest, mouth, scrotum, foreskin, penile shaft, vulva, and areola.\n", + " definition of HP:0032227 (Sebaceous hyperplasia)\n", + " \n", + " \n", + " Reduced isovaleryl CoA dehydrogenase activity in cultured fibroblasts\n", + " definition of HP:4000210 (Reduced isovaleryl CoA dehydrogenase activity in cultured fibroblasts)\n", + " \n", + " \n", + " Activity of isovaleryl-CoA dehydrogenase (EC 1.3.99.10) below the lower limit of normal in cultured fibroblasts.\n", + " definition of HP:4000210 (Reduced isovaleryl CoA dehydrogenase activity in cultured fibroblasts)\n", + " \n", + " \n", + " Cerebellar dentate nucleus calcification\n", + " definition of HP:0002461 (Cerebellar dentate nucleus calcification)\n", + " \n", + " \n", + " Pathological deposition of calcium salts in the dentate nucleus of the cerebellum.\n", + " definition of HP:0002461 (Cerebellar dentate nucleus calcification)\n", + " \n", + " \n", + " Dysplastic corpus callosum\n", + " definition of HP:0006989 (Dysplastic corpus callosum)\n", + " \n", + " \n", + " Dysplasia and dysgenesis of the corpus callosum are nonspecific descriptions that imply defective development of the corpus callosum. The term dysplasia is applied when the morphology of the corpus callosum is altered as a congenital trait. For instance, the corpus callosum may be hump-shaped, kinked, or a striped corpus callosum that lacks an anatomically distinct genu and splenium.\n", + " definition of HP:0006989 (Dysplastic corpus callosum)\n", + " \n", + " \n", + " #Dysgenesis of corpus callosum #Dysplasia of corpus callosum\n", + " definition of HP:0006989 (Dysplastic corpus callosum)\n", + " \n", + " \n", + " Horizontal ribs\n", + " definition of HP:0000888 (Horizontal ribs)\n", + " \n", + " \n", + " A horizontal (flat) conformation of the ribs, the long curved bones that form the rib cage and normally progressively oblique (slanted) from ribs 1 through 9, then less slanted through rib 12.\n", + " definition of HP:0000888 (Horizontal ribs)\n", + " \n", + " \n", + " #Horizontal ribs\n", + " definition of HP:0000888 (Horizontal ribs)\n", + " \n", + " \n", + " Decreased movement range in interphalangeal joints\n", + " definition of HP:0006203 (Decreased movement range in interphalangeal joints)\n", + " \n", + " \n", + " #Decreased range of movement range in hinge joints\n", + " definition of HP:0006203 (Decreased movement range in interphalangeal joints)\n", + " \n", + " \n", + " Bronchocentric granulomatosis\n", + " definition of HP:0033371 (Bronchocentric granulomatosis)\n", + " \n", + " \n", + " Granulomatous inflammation that surrounds the bronchi and bronchioles, replacing bronchial walls and mucosa. In bronchocentric granulomatosis, the lumen of the airway contains necrotic debris, and palisaded histiocytes surround the lumen.\n", + " definition of HP:0033371 (Bronchocentric granulomatosis)\n", + " \n", + " \n", + " Interrupted aortic arch type A\n", + " definition of HP:0011612 (Interrupted aortic arch type A)\n", + " \n", + " \n", + " Non-continuity of the aortic arch with an atretic point or absent segment at the level of the isthmus.\n", + " definition of HP:0011612 (Interrupted aortic arch type A)\n", + " \n", + " \n", + " Cone-shaped epiphysis of the distal phalanx of the hallux\n", + " definition of HP:0010140 (Cone-shaped epiphysis of the distal phalanx of the hallux)\n", + " \n", + " \n", + " #Cone-shaped end part of the outermost bone of the big toe\n", + " definition of HP:0010140 (Cone-shaped epiphysis of the distal phalanx of the hallux)\n", + " \n", + " \n", + " PR segment depression\n", + " definition of HP:0031594 (PR segment depression)\n", + " \n", + " \n", + " A reduction in voltage of the PR segment below baseline.\n", + " definition of HP:0031594 (PR segment depression)\n", + " \n", + " \n", + " #PR interval depression #PTa depression\n", + " definition of HP:0031594 (PR segment depression)\n", + " \n", + " \n", + " Histiocytoid cardiomyopathy\n", + " definition of HP:0005152 (Histiocytoid cardiomyopathy)\n", + " \n", + " \n", + " A type of cardiomyopathy characterized pathologically by hamartomatous lesions of cardiac Purkinje cells.\n", + " definition of HP:0005152 (Histiocytoid cardiomyopathy)\n", + " \n", + " \n", + " #Arachnocytosis of the myocardium #Foamy myocardial transformation #Focal lipid cardiomyopathy #Infantile cardiomyopathy with histiocytoid changes #Infantile xanthomatous cardiomyopathy #Isolated cardiac lipidosis #Myocardial or conduction system hamartoma #Oncocytic cardiomyopathy\n", + " definition of HP:0005152 (Histiocytoid cardiomyopathy)\n", + " \n", + " \n", + " Jaw ankylosis\n", + " definition of HP:0040263 (Jaw ankylosis)\n", + " \n", + " \n", + " Increased proportion of unswitched memory B cells\n", + " definition of HP:0032125 (Increased proportion of unswitched memory B cells)\n", + " \n", + " \n", + " An increase above the normal proportion of non-class-switched memory B cells relative to the total number of B cells.\n", + " definition of HP:0032125 (Increased proportion of unswitched memory B cells)\n", + " \n", + " \n", + " #Elevated proportion of unswitched memory B cells #Increased proportion of non-class-switched memory B cells\n", + " definition of HP:0032125 (Increased proportion of unswitched memory B cells)\n", + " \n", + " \n", + " Synostosis involving digits\n", + " definition of HP:0100262 (Synostosis involving digits)\n", + " \n", + " \n", + " #Fusion involving digits\n", + " definition of HP:0100262 (Synostosis involving digits)\n", + " \n", + " \n", + " Abnormality of toe proximal phalanx\n", + " definition of HP:0010184 (Abnormality of toe proximal phalanx)\n", + " \n", + " \n", + " A morphological anomaly of one or more proximal phalanges of one or more toes.\n", + " definition of HP:0010184 (Abnormality of toe proximal phalanx)\n", + " \n", + " \n", + " #Abnormal innermost toe bone #Abnormality of the proximal phalanges of the toes\n", + " definition of HP:0010184 (Abnormality of toe proximal phalanx)\n", + " \n", + " \n", + " Myeloid maturation arrest\n", + " definition of HP:0410253 (Myeloid maturation arrest)\n", + " \n", + " \n", + " Chornic neutropenia arising from an impaired proliferation and maturation of myeloid progenitor cells in the bone marrow.\n", + " definition of HP:0410253 (Myeloid maturation arrest)\n", + " \n", + " \n", + " #Myeloid maturation arrest in bone marrow\n", + " definition of HP:0410253 (Myeloid maturation arrest)\n", + " \n", + " \n", + " Diffuse subcortical band heterotopia\n", + " definition of HP:0032413 (Diffuse subcortical band heterotopia)\n", + " \n", + " \n", + " Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the whole brain.\n", + " definition of HP:0032413 (Diffuse subcortical band heterotopia)\n", + " \n", + " \n", + " #Subcortical band heterotopia diffuse\n", + " definition of HP:0032413 (Diffuse subcortical band heterotopia)\n", + " \n", + " \n", + " Enlarged hippocampus\n", + " definition of HP:0100961 (Enlarged hippocampus)\n", + " \n", + " \n", + " Increase in size of the hippocampus.\n", + " definition of HP:0100961 (Enlarged hippocampus)\n", + " \n", + " \n", + " Pulmonary vein varix\n", + " definition of HP:0034389 (Pulmonary vein varix)\n", + " \n", + " \n", + " Pulmonary vein varix (PVV), refers to a localized dilatation of a pulmonary vein. PVV is a rare condition and can be congenital or acquired. PVV typically occur at the confluence of the veins adjacent to the left atrium. PVVs are sometimes classified into three morphological types: saccular, tortuous and confluent.\n", + " definition of HP:0034389 (Pulmonary vein varix)\n", + " \n", + " \n", + " #Pulmonary vein dilatation\n", + " definition of HP:0034389 (Pulmonary vein varix)\n", + " \n", + " \n", + " Reduced liver carboxylesterase 1 activity\n", + " definition of HP:0034923 (Reduced liver carboxylesterase 1 activity)\n", + " \n", + " \n", + " Activity of the enzyme carboxylesterase 1 in liver tissue below the lower limit of normal.\n", + " definition of HP:0034923 (Reduced liver carboxylesterase 1 activity)\n", + " \n", + " \n", + " Abnormal superior cerebellar peduncle morphology\n", + " definition of HP:0011932 (Abnormal superior cerebellar peduncle morphology)\n", + " \n", + " \n", + " An anomaly of the superior cerebellar peduncle.\n", + " definition of HP:0011932 (Abnormal superior cerebellar peduncle morphology)\n", + " \n", + " \n", + " #Abnormality of the superior cerebellar peduncle\n", + " definition of HP:0011932 (Abnormal superior cerebellar peduncle morphology)\n", + " \n", + " \n", + " Fractured middle phalanx of manual digit 3\n", + " definition of HP:0041183 (Fractured middle phalanx of manual digit 3)\n", + " \n", + " \n", + " A partial or complete breakage of the middle phalanx of manual digit 3.\n", + " definition of HP:0041183 (Fractured middle phalanx of manual digit 3)\n", + " \n", + " \n", + " #bone middle phalanx of manual digit 3\n", + " definition of HP:0041183 (Fractured middle phalanx of manual digit 3)\n", + " \n", + " \n", + " Absent epiphysis of the middle phalanx of the 5th toe\n", + " definition of HP:0100213 (Absent epiphysis of the middle phalanx of the 5th toe)\n", + " \n", + " \n", + " #Absent end part of the middle bone of the little toe #Absent end part of the middle bone of the pinkie toe #Absent end part of the middle bone of the pinky toe\n", + " definition of HP:0100213 (Absent epiphysis of the middle phalanx of the 5th toe)\n", + " \n", + " \n", + " Delayed self-feeding during toddler years\n", + " definition of HP:0012381 (Delayed self-feeding during toddler years)\n", + " \n", + " \n", + " A delay in the development of skills required to feed oneself in the toddler period (between one and three years of age).\n", + " definition of HP:0012381 (Delayed self-feeding during toddler years)\n", + " \n", + " \n", + " Fatigable weakness\n", + " definition of HP:0003473 (Fatigable weakness)\n", + " \n", + " \n", + " A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.\n", + " definition of HP:0003473 (Fatigable weakness)\n", + " \n", + " \n", + " #Fatigable weakness of limb muscles #Generalised muscle weakness due to defect at the neuromuscular junction #Generalized muscle weakness due to defect at the neuromuscular junction #Myasthenia #Myasthenic weakness #Proximal muscle weakness due to defect at the neuromuscular junction\n", + " definition of HP:0003473 (Fatigable weakness)\n", + " \n", + " \n", + " Duplication of the distal phalanx of the hallux\n", + " definition of HP:0010084 (Duplication of the distal phalanx of the hallux)\n", + " \n", + " \n", + " #Duplication of the outermost bone of big toe #Partial/complete duplication of the distal phalanx of the hallux\n", + " definition of HP:0010084 (Duplication of the distal phalanx of the hallux)\n", + " \n", + " \n", + " Chondroitin sulfate excretion in urine\n", + " definition of HP:0012070 (Chondroitin sulfate excretion in urine)\n", + " \n", + " \n", + " An increased concentration of chondroitin sulfate (CHEBI:37397) in the urine.\n", + " definition of HP:0012070 (Chondroitin sulfate excretion in urine)\n", + " \n", + " \n", + " #Chondroitin sulphate excretion in urine\n", + " definition of HP:0012070 (Chondroitin sulfate excretion in urine)\n", + " \n", + " \n", + " Symmetrical progressive peripheral demyelination\n", + " definition of HP:0006873 (Symmetrical progressive peripheral demyelination)\n", + " \n", + " \n", + " A symmetric and progressive loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.\n", + " definition of HP:0006873 (Symmetrical progressive peripheral demyelination)\n", + " \n", + " \n", + " Abnormal thalamus morphology\n", + " definition of HP:0010663 (Abnormal thalamus morphology)\n", + " \n", + " \n", + " An abnormality of the thalamus.\n", + " definition of HP:0010663 (Abnormal thalamus morphology)\n", + " \n", + " \n", + " #Abnormal shape of thalamus #Abnormality of thalamus morphology #Abnormality of the thalamus\n", + " definition of HP:0010663 (Abnormal thalamus morphology)\n", + " \n", + " \n", + " Progressive leukoencephalopathy\n", + " definition of HP:0006980 (Progressive leukoencephalopathy)\n", + " \n", + " \n", + " Leukoencephalopathy that gets more severe with time.\n", + " definition of HP:0006980 (Progressive leukoencephalopathy)\n", + " \n", + " \n", + " #Leukoencephalopathy, progressive\n", + " definition of HP:0006980 (Progressive leukoencephalopathy)\n", + " \n", + " \n", + " Absent stapes head\n", + " definition of HP:0200111 (Absent stapes head)\n", + " \n", + " \n", + " Abnormality of the sublingual glands\n", + " definition of HP:0010288 (Abnormality of the sublingual glands)\n", + " \n", + " \n", + " Any abnormality of the sublingual glands, which are the salivary glands that are located beneath the floor of the mouth anterior to the submandibular glands.\n", + " definition of HP:0010288 (Abnormality of the sublingual glands)\n", + " \n", + " \n", + " Wide radioulnar joints\n", + " definition of HP:0003973 (Wide radioulnar joints)\n", + " \n", + " \n", + " #Broad radioulnar joints\n", + " definition of HP:0003973 (Wide radioulnar joints)\n", + " \n", + " \n", + " Arcuate vein intima/media crystal accumulation\n", + " definition of HP:0033946 (Arcuate vein intima/media crystal accumulation)\n", + " \n", + " \n", + " Deposition of crystals such as uric acid, oxalate, or cystine in the inner or middle layer of the arcuate veins of the kidney.\n", + " definition of HP:0033946 (Arcuate vein intima/media crystal accumulation)\n", + " \n", + " \n", + " Hemorrhoids\n", + " definition of HP:0032551 (Hemorrhoids)\n", + " \n", + " \n", + " Enlarged, bulging blood vessels in and around the anus often associated with rectal bleeding, itching, and pain.\n", + " definition of HP:0032551 (Hemorrhoids)\n", + " \n", + " \n", + " #Haemorrhoids #Piles\n", + " definition of HP:0032551 (Hemorrhoids)\n", + " \n", + " \n", + " Polydactyly affecting the 2nd finger\n", + " definition of HP:0009946 (Polydactyly affecting the 2nd finger)\n", + " \n", + " \n", + " #Extra index finger\n", + " definition of HP:0009946 (Polydactyly affecting the 2nd finger)\n", + " \n", + " \n", + " Reduced muscle fiber perlecan\n", + " definition of HP:0030122 (Reduced muscle fiber perlecan)\n", + " \n", + " \n", + " Immunohistochemistry reveals reduced perlecan protein in the muscle biopsy. Perlecan is a basement membrane-specific heparan sulfate proteoglycan core protein (HSPG) also known as heparan sulfate proteoglycan 2 (HSPG2).\n", + " definition of HP:0030122 (Reduced muscle fiber perlecan)\n", + " \n", + " \n", + " #Reduced muscle fibre perlecan\n", + " definition of HP:0030122 (Reduced muscle fiber perlecan)\n", + " \n", + " \n", + " Fetal cerebellar hemisphere hemorrhage\n", + " definition of HP:0034215 (Fetal cerebellar hemisphere hemorrhage)\n", + " \n", + " \n", + " A type of fetal intracranial hemorrhage that occurs in the hemisphere of the cerebellum.\n", + " definition of HP:0034215 (Fetal cerebellar hemisphere hemorrhage)\n", + " \n", + " \n", + " Breathing dysregulation\n", + " definition of HP:0005957 (Breathing dysregulation)\n", + " \n", + " \n", + " Absent dermal elastic fibers\n", + " definition of HP:0034837 (Absent dermal elastic fibers)\n", + " \n", + " \n", + " Elastic fibers not demonstrable in skin biopsy.\n", + " definition of HP:0034837 (Absent dermal elastic fibers)\n", + " \n", + " \n", + " Satyr ear\n", + " definition of HP:0030676 (Satyr ear)\n", + " \n", + " \n", + " Sharp pointed superior portion of the ear, with variable overfolding of the helix.\n", + " definition of HP:0030676 (Satyr ear)\n", + " \n", + " \n", + " #Devil ear\n", + " definition of HP:0030676 (Satyr ear)\n", + " \n", + " \n", + " Visceral epithelial cell hyperplasia\n", + " definition of HP:0033314 (Visceral epithelial cell hyperplasia)\n", + " \n", + " \n", + " Increased number of visceral epithelial cells (2 or more layers), often with crowding and multilayering, but without continuity with the parietal epithelium.\n", + " definition of HP:0033314 (Visceral epithelial cell hyperplasia)\n", + " \n", + " \n", + " #Hyperplasia of visceral epithelial cells #Podocyte hyperplasia\n", + " definition of HP:0033314 (Visceral epithelial cell hyperplasia)\n", + " \n", + " \n", + " Mesangial amyloid deposition\n", + " definition of HP:0033548 (Mesangial amyloid deposition)\n", + " \n", + " \n", + " Extracellular mesangial aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass.\n", + " definition of HP:0033548 (Mesangial amyloid deposition)\n", + " \n", + " \n", + " Pulmonary cylindroma\n", + " definition of HP:0034637 (Pulmonary cylindroma)\n", + " \n", + " \n", + " A cylindroma located in the lung. Cylindromas are well-circumscribed, smooth, pale pink nodular tumors, often with arborizing vessels visible. The tumors are slow growing and vary in size from a few millimeters to over 5 mm.\n", + " definition of HP:0034637 (Pulmonary cylindroma)\n", + " \n", + " \n", + " Upper extremity joint dislocation\n", + " definition of HP:0030310 (Upper extremity joint dislocation)\n", + " \n", + " \n", + " Displacement or malalignment of one or more joints in the upper extremity (arm).\n", + " definition of HP:0030310 (Upper extremity joint dislocation)\n", + " \n", + " \n", + " #Dislocated arm joints\n", + " definition of HP:0030310 (Upper extremity joint dislocation)\n", + " \n", + " \n", + " Anti-DCC netrin 1 receptor antibody positivity\n", + " definition of HP:6000881 (Anti-DCC netrin 1 receptor antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies in the serum that react against Netrin-1 receptors DCC (deleted in colorectal carcinoma).\n", + " definition of HP:6000881 (Anti-DCC netrin 1 receptor antibody positivity)\n", + " \n", + " \n", + " Bracket epiphysis of the distal phalanx of the thumb\n", + " definition of HP:0009676 (Bracket epiphysis of the distal phalanx of the thumb)\n", + " \n", + " \n", + " An abnormality of the distal phalanx of the thumb in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.\n", + " definition of HP:0009676 (Bracket epiphysis of the distal phalanx of the thumb)\n", + " \n", + " \n", + " #Bracket shaped end part of thumb outermost long bone\n", + " definition of HP:0009676 (Bracket epiphysis of the distal phalanx of the thumb)\n", + " \n", + " \n", + " Positive bloodstream plasmodium falciparum nucleic acid pathogen test\n", + " definition of HP:6000554 (Positive bloodstream plasmodium falciparum nucleic acid pathogen test)\n", + " \n", + " \n", + " Detection of nucleic acid of Plasmodium falciparum (a type of Malaria parasite) in the blood circulation by a method such as polymerase chain reaction (PCR).\n", + " definition of HP:6000554 (Positive bloodstream plasmodium falciparum nucleic acid pathogen test)\n", + " \n", + " \n", + " Elevated circulating complement component concentration\n", + " definition of HP:6000474 (Elevated circulating complement component concentration)\n", + " \n", + " \n", + " Concentration of a complement component in the blood circulation is above the upper limit of normal.\n", + " definition of HP:6000474 (Elevated circulating complement component concentration)\n", + " \n", + " \n", + " Splayed superior cerebellar peduncle\n", + " definition of HP:0030285 (Splayed superior cerebellar peduncle)\n", + " \n", + " \n", + " Abnormal splayed configuration (spreading out) of the superior cerebellar peduncle.\n", + " definition of HP:0030285 (Splayed superior cerebellar peduncle)\n", + " \n", + " \n", + " Interlobular vein intima/media amyloidosis\n", + " definition of HP:0033966 (Interlobular vein intima/media amyloidosis)\n", + " \n", + " \n", + " Amorphous extracellular substance in the glomerular, interstitial or vascular compartments of the interlobular veins of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy\n", + " definition of HP:0033966 (Interlobular vein intima/media amyloidosis)\n", + " \n", + " \n", + " #Amyloidosis within interlobular vein intima/media\n", + " definition of HP:0033966 (Interlobular vein intima/media amyloidosis)\n", + " \n", + " \n", + " Bone marrow monocytosis\n", + " definition of HP:6000641 (Bone marrow monocytosis)\n", + " \n", + " \n", + " Increased count of monocytes in the bone marrow.\n", + " definition of HP:6000641 (Bone marrow monocytosis)\n", + " \n", + " \n", + " #Bone marrow monocytes increased\n", + " definition of HP:6000641 (Bone marrow monocytosis)\n", + " \n", + " \n", + " Arcuate vein medial/intimal necrosis\n", + " definition of HP:0033942 (Arcuate vein medial/intimal necrosis)\n", + " \n", + " \n", + " Cell death (necrosis) of the inner or middle layer of the arcuate veins of the kidney.\n", + " definition of HP:0033942 (Arcuate vein medial/intimal necrosis)\n", + " \n", + " \n", + " #Necrosis within arcuate vein intima/media\n", + " definition of HP:0033942 (Arcuate vein medial/intimal necrosis)\n", + " \n", + " \n", + " Positive urine norpropoxyphene test\n", + " definition of HP:0410290 (Positive urine norpropoxyphene test)\n", + " \n", + " \n", + " Detection of norpropoxyphene in urine.\n", + " definition of HP:0410290 (Positive urine norpropoxyphene test)\n", + " \n", + " \n", + " Abnormal factor VIII activity\n", + " definition of HP:0030976 (Abnormal factor VIII activity)\n", + " \n", + " \n", + " A deviation from the normal activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.\n", + " definition of HP:0030976 (Abnormal factor VIII activity)\n", + " \n", + " \n", + " Tarsal stippling\n", + " definition of HP:0008131 (Tarsal stippling)\n", + " \n", + " \n", + " The presence of abnormal punctate (speckled, dot-like) calcifications in one or more tarsal bones.\n", + " definition of HP:0008131 (Tarsal stippling)\n", + " \n", + " \n", + " #Punctate calcifications of tarsals #Punctate tarsal calcification\n", + " definition of HP:0008131 (Tarsal stippling)\n", + " \n", + " \n", + " Supernumerary cusp\n", + " definition of HP:0033777 (Supernumerary cusp)\n", + " \n", + " \n", + " Additional cusps of a dental crown.\n", + " definition of HP:0033777 (Supernumerary cusp)\n", + " \n", + " \n", + " #Additional cusp #Extra cusp\n", + " definition of HP:0033777 (Supernumerary cusp)\n", + " \n", + " \n", + " Hypoplastic distal segments of scapulae\n", + " definition of HP:0006631 (Hypoplastic distal segments of scapulae)\n", + " \n", + " \n", + " #Small distal segments of the shoulder blade #Underdeveloped outermost segments of shoulder blade\n", + " definition of HP:0006631 (Hypoplastic distal segments of scapulae)\n", + " \n", + " \n", + " Fasting hypoglycemia\n", + " definition of HP:0003162 (Fasting hypoglycemia)\n", + " \n", + " \n", + " #Low blood sugar when fasting\n", + " definition of HP:0003162 (Fasting hypoglycemia)\n", + " \n", + " \n", + " Increased LDL cholesterol concentration\n", + " definition of HP:0003141 (Increased LDL cholesterol concentration)\n", + " \n", + " \n", + " An elevated concentration of low-density lipoprotein cholesterol in the blood.\n", + " definition of HP:0003141 (Increased LDL cholesterol concentration)\n", + " \n", + " \n", + " #Hyperbetalipoproteinemia #Increased beta-lipoproteins #Increased circulating LDL level #Increased circulating low-density lipoprotein cholesterol #Increased circulating low-density lipoprotein levels #Increased LDL cholesterol #Increased LDLc concentration #Increased plasma LDL levels\n", + " definition of HP:0003141 (Increased LDL cholesterol concentration)\n", + " \n", + " \n", + " Shoulder subluxation\n", + " definition of HP:0003835 (Shoulder subluxation)\n", + " \n", + " \n", + " A partial dislocation of the shoulder joint.\n", + " definition of HP:0003835 (Shoulder subluxation)\n", + " \n", + " \n", + " #Partial shoulder dislocation\n", + " definition of HP:0003835 (Shoulder subluxation)\n", + " \n", + " \n", + " Left hemiplegia\n", + " definition of HP:0040292 (Left hemiplegia)\n", + " \n", + " \n", + " #Hemiplegia (left)\n", + " definition of HP:0040292 (Left hemiplegia)\n", + " \n", + " \n", + " Increased ratio of deoxypyridinoline to pyridinoline cross-links in urine\n", + " definition of HP:6000330 (Increased ratio of deoxypyridinoline to pyridinoline cross-links in urine)\n", + " \n", + " \n", + " The relative concentration of deoxypyridinoline (Dpyr) to that of pyridinoline (Pyr) cross-links in urine is above the upper limit of normal.\n", + " definition of HP:6000330 (Increased ratio of deoxypyridinoline to pyridinoline cross-links in urine)\n", + " \n", + " \n", + " Vaginal clear cell adenocarcinoma\n", + " definition of HP:0031521 (Vaginal clear cell adenocarcinoma)\n", + " \n", + " \n", + " A type of adenocarcinoma originating in the vagina and characterized by large cells with moderate to abundant clear cytoplasm.\n", + " definition of HP:0031521 (Vaginal clear cell adenocarcinoma)\n", + " \n", + " \n", + " #Clear cell adenocarcinoma of the vagina\n", + " definition of HP:0031521 (Vaginal clear cell adenocarcinoma)\n", + " \n", + " \n", + " Absent nail of hallux\n", + " definition of HP:0012555 (Absent nail of hallux)\n", + " \n", + " \n", + " Absent nail of big toe.\n", + " definition of HP:0012555 (Absent nail of hallux)\n", + " \n", + " \n", + " #Absent big toe nail #Absent nail of big toe\n", + " definition of HP:0012555 (Absent nail of hallux)\n", + " \n", + " \n", + " Neck muscle hypoplasia\n", + " definition of HP:0008984 (Neck muscle hypoplasia)\n", + " \n", + " \n", + " Underdevelopment of muscles of the neck.\n", + " definition of HP:0008984 (Neck muscle hypoplasia)\n", + " \n", + " \n", + " #Decreased size of neck muscle #Small neck muscle #Underdevelopment of neck muscle\n", + " definition of HP:0008984 (Neck muscle hypoplasia)\n", + " \n", + " \n", + " Impaired glucose tolerance\n", + " definition of HP:0040270 (Impaired glucose tolerance)\n", + " \n", + " \n", + " An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose.\n", + " definition of HP:0040270 (Impaired glucose tolerance)\n", + " \n", + " \n", + " #Decreased glucose tolerance #Glucose tolerance decreased\n", + " definition of HP:0040270 (Impaired glucose tolerance)\n", + " \n", + " \n", + " Superior olive hypertrophy\n", + " definition of HP:6000848 (Superior olive hypertrophy)\n", + " \n", + " \n", + " Abnormal increase in size of the superior olive, also known as the superior olivary complex. The superior olive is a collection of brainstem nuclei that is located in pons, functions in multiple aspects of hearing and is an important component of the ascending and descending auditory pathways of the auditory system.\n", + " definition of HP:6000848 (Superior olive hypertrophy)\n", + " \n", + " \n", + " Abnormal visual electrophysiology\n", + " definition of HP:0030453 (Abnormal visual electrophysiology)\n", + " \n", + " \n", + " Abnormal areolar morphology\n", + " definition of HP:0032314 (Abnormal areolar morphology)\n", + " \n", + " \n", + " An abnormal appearance or structure of the ring of pigmented skin that surrounds the nipple.\n", + " definition of HP:0032314 (Abnormal areolar morphology)\n", + " \n", + " \n", + " Reduced circulating interleukin 22 concentration\n", + " definition of HP:0034168 (Reduced circulating interleukin 22 concentration)\n", + " \n", + " \n", + " An abnormally decreased concentration of interleukin 22 in the blood circulation.\n", + " definition of HP:0034168 (Reduced circulating interleukin 22 concentration)\n", + " \n", + " \n", + " Abnormal fundus fluorescein angiography\n", + " definition of HP:0030604 (Abnormal fundus fluorescein angiography)\n", + " \n", + " \n", + " An abnormality observed by retinal fluorescein angiography, which involves the intravenous injection of fluorescein dye followed by fluorescent imaging of the fundus immediately after injection and for up to ten minutes thereafter. It can be used to study various retinal abnormalities including especially anomalies of the choroidal and retinal circulation.\n", + " definition of HP:0030604 (Abnormal fundus fluorescein angiography)\n", + " \n", + " \n", + " Insufficient response to short acting pulmonary vasodilator\n", + " definition of HP:0030894 (Insufficient response to short acting pulmonary vasodilator)\n", + " \n", + " \n", + " No fall in mean pulmonary arterial pressure (mPAP) falls by at least 10 mmHg to an absolute value less than 40 mmHg without a degradation in cardiac output (CO) in response to a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide.\n", + " definition of HP:0030894 (Insufficient response to short acting pulmonary vasodilator)\n", + " \n", + " \n", + " Elevated urine hydroxyphenyllactic acid level\n", + " definition of HP:6001004 (Elevated urine hydroxyphenyllactic acid level)\n", + " \n", + " \n", + " The amount of hydroxyphenyllactic acid in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6001004 (Elevated urine hydroxyphenyllactic acid level)\n", + " \n", + " \n", + " Third ventricle colloid cyst\n", + " definition of HP:0032578 (Third ventricle colloid cyst)\n", + " \n", + " \n", + " An epithelial lined cyst filled with gelatinous material. The gelatinous material commonly contains mucin, old blood, cholesterol, and ions. Most colloid cysts identified are currently asymptomatic and identified incidentally on imaging. When a colloid cyst does cause issues, it most commonly causes obstructive hydrocephalus.\n", + " definition of HP:0032578 (Third ventricle colloid cyst)\n", + " \n", + " \n", + " Adrenal mass\n", + " definition of HP:0034880 (Adrenal mass)\n", + " \n", + " \n", + " A swelling or enlargement localized to the adrenal gland. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.\n", + " definition of HP:0034880 (Adrenal mass)\n", + " \n", + " \n", + " Small epiphysis of the proximal phalanx of the 3rd toe\n", + " definition of HP:0100165 (Small epiphysis of the proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Small end part of the innermost bone of the 3rd toe\n", + " definition of HP:0100165 (Small epiphysis of the proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Peripheral axonal degeneration\n", + " definition of HP:0000764 (Peripheral axonal degeneration)\n", + " \n", + " \n", + " Progressive deterioration of peripheral axons.\n", + " definition of HP:0000764 (Peripheral axonal degeneration)\n", + " \n", + " \n", + " Pseudoepiphyses of the distal phalanges of the hand\n", + " definition of HP:0010253 (Pseudoepiphyses of the distal phalanges of the hand)\n", + " \n", + " \n", + " A secondary ossification center in the distal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.\n", + " definition of HP:0010253 (Pseudoepiphyses of the distal phalanges of the hand)\n", + " \n", + " \n", + " Tapered sperm head\n", + " definition of HP:0032562 (Tapered sperm head)\n", + " \n", + " \n", + " Sperm with cigar-shaped heads that gradually dimish in diameter (taper).\n", + " definition of HP:0032562 (Tapered sperm head)\n", + " \n", + " \n", + " Severe combined immunodeficiency\n", + " definition of HP:0004430 (Severe combined immunodeficiency)\n", + " \n", + " \n", + " A type of primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems.\n", + " definition of HP:0004430 (Severe combined immunodeficiency)\n", + " \n", + " \n", + " #Immunodeficiency, severe combined\n", + " definition of HP:0004430 (Severe combined immunodeficiency)\n", + " \n", + " \n", + " Bullet-shaped middle phalanx of the 3rd toe\n", + " definition of HP:0100434 (Bullet-shaped middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " An abnormal morphology of the middle phalanx of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.\n", + " definition of HP:0100434 (Bullet-shaped middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Bullet-shaped middle bone of the 3rd toe\n", + " definition of HP:0100434 (Bullet-shaped middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " Compression fracture\n", + " definition of HP:4000047 (Compression fracture)\n", + " \n", + " \n", + " A type of fracture in which the bone is crushed, causing the broken bone to be wider or flatter in appearance.\n", + " definition of HP:4000047 (Compression fracture)\n", + " \n", + " \n", + " #Wedge fracture\n", + " definition of HP:4000047 (Compression fracture)\n", + " \n", + " \n", + " Decreased proportion of immature B cells\n", + " definition of HP:0030378 (Decreased proportion of immature B cells)\n", + " \n", + " \n", + " A reduction in normal proportion of immature B cells (CD19+/ CD21low)in circulation relative to total number of B cells. Immature B cells (IgM+) are still in final stages of development within the bone marrow. Naive B cells are those which have left the bone marrow, before they bind to the antigen for which they're specific (IgM+/IgD+).\n", + " definition of HP:0030378 (Decreased proportion of immature B cells)\n", + " \n", + " \n", + " #Decreased proportion of CD19+/CD21low B cells\n", + " definition of HP:0030378 (Decreased proportion of immature B cells)\n", + " \n", + " \n", + " Hyperpigmented nevi\n", + " definition of HP:0007481 (Hyperpigmented nevi)\n", + " \n", + " \n", + " Focal aware cognitive seizure with memory impairment\n", + " definition of HP:0032686 (Focal aware cognitive seizure with memory impairment)\n", + " \n", + " \n", + " A focal cognitive seizure with memory impairment characterized by retained awareness throughout the seizure.\n", + " definition of HP:0032686 (Focal aware cognitive seizure with memory impairment)\n", + " \n", + " \n", + " Infantile hydrocele\n", + " definition of HP:4000038 (Infantile hydrocele)\n", + " \n", + " \n", + " Infantile Hydrocele is a type pf hydrocele in which the processus vaginalis gets obliterated at the level of the deep inguinal ring. However, the portion distal to it remains patent and allows fluid accumulation.\n", + " definition of HP:4000038 (Infantile hydrocele)\n", + " \n", + " \n", + " Abnormal tongue morphology\n", + " definition of HP:0030809 (Abnormal tongue morphology)\n", + " \n", + " \n", + " Any structural anomaly of the tongue.\n", + " definition of HP:0030809 (Abnormal tongue morphology)\n", + " \n", + " \n", + " Increased circulating carnosine concentration\n", + " definition of HP:0500161 (Increased circulating carnosine concentration)\n", + " \n", + " \n", + " Concentration of carnosine in the blood circulation above normal limits.\n", + " definition of HP:0500161 (Increased circulating carnosine concentration)\n", + " \n", + " \n", + " #High blood carnosine levels #Increased blood carnosine concentration #Increased level of carnosine in blood\n", + " definition of HP:0500161 (Increased circulating carnosine concentration)\n", + " \n", + " \n", + " Abnormal circulating transferrin concentration\n", + " definition of HP:0032385 (Abnormal circulating transferrin concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of transferrin in the blood circulation.\n", + " definition of HP:0032385 (Abnormal circulating transferrin concentration)\n", + " \n", + " \n", + " #Abnormal circulating transferrin level\n", + " definition of HP:0032385 (Abnormal circulating transferrin concentration)\n", + " \n", + " \n", + " Impairment of fructose metabolism\n", + " definition of HP:0011033 (Impairment of fructose metabolism)\n", + " \n", + " \n", + " An impairment of a fructose metabolic process.\n", + " definition of HP:0011033 (Impairment of fructose metabolism)\n", + " \n", + " \n", + " Duplication of the middle phalanx of the 5th toe\n", + " definition of HP:0100403 (Duplication of the middle phalanx of the 5th toe)\n", + " \n", + " \n", + " Partial or complete duplication of the middle phalanx of the 5th toe.\n", + " definition of HP:0100403 (Duplication of the middle phalanx of the 5th toe)\n", + " \n", + " \n", + " #Duplication of the middle bone of the little toe #Duplication of the middle bone of the pinkie toe #Duplication of the middle bone of the pinky toe #Duplication of the middle phalanx of the fifth toe #Partial/complete duplication of the middle phalanx of the 5th toe\n", + " definition of HP:0100403 (Duplication of the middle phalanx of the 5th toe)\n", + " \n", + " \n", + " Lower limb phocomelia\n", + " definition of HP:0009819 (Lower limb phocomelia)\n", + " \n", + " \n", + " Phocomelia affecting only the lower limbs.\n", + " definition of HP:0009819 (Lower limb phocomelia)\n", + " \n", + " \n", + " Decreased calvarial ossification\n", + " definition of HP:0005474 (Decreased calvarial ossification)\n", + " \n", + " \n", + " Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone).\n", + " definition of HP:0005474 (Decreased calvarial ossification)\n", + " \n", + " \n", + " #Poorly ossified calvaria #Poorly ossified calvarium #Soft calvaria #Soft skullcap #Undermineralized calvarium\n", + " definition of HP:0005474 (Decreased calvarial ossification)\n", + " \n", + " \n", + " Sleep paralysis\n", + " definition of HP:0025233 (Sleep paralysis)\n", + " \n", + " \n", + " An inability to move the body at the onset of sleep or upon awakening from sleep, lasting for seconds to a few minutes.\n", + " definition of HP:0025233 (Sleep paralysis)\n", + " \n", + " \n", + " #Inability to move or speak\n", + " definition of HP:0025233 (Sleep paralysis)\n", + " \n", + " \n", + " Glomerular deposits\n", + " definition of HP:0030949 (Glomerular deposits)\n", + " \n", + " \n", + " An abnormal accumulation of protein in the glomerulus.\n", + " definition of HP:0030949 (Glomerular deposits)\n", + " \n", + " \n", + " Intestinal lymphangiectasia\n", + " definition of HP:0002593 (Intestinal lymphangiectasia)\n", + " \n", + " \n", + " Angiectasia of lymph vessels (i.e., dilatation of lymphatic vessels) in the intestines.\n", + " definition of HP:0002593 (Intestinal lymphangiectasia)\n", + " \n", + " \n", + " Bloodstream antifungal antibody positivity\n", + " definition of HP:0430076 (Bloodstream antifungal antibody positivity)\n", + " \n", + " \n", + " The presence of antibodies in the blood circulation that react against a fungus.\n", + " definition of HP:0430076 (Bloodstream antifungal antibody positivity)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the eccrine sweat glands\n", + " definition of HP:0007592 (Aplasia/Hypoplasia of the eccrine sweat glands)\n", + " \n", + " \n", + " Absence or developmental hypoplasia of the eccrine sweat glands.\n", + " definition of HP:0007592 (Aplasia/Hypoplasia of the eccrine sweat glands)\n", + " \n", + " \n", + " #Hypoplastic-absent eccrine sweat glands\n", + " definition of HP:0007592 (Aplasia/Hypoplasia of the eccrine sweat glands)\n", + " \n", + " \n", + " Pseudoepiphysis of the middle phalanx of the 2nd finger\n", + " definition of HP:0009520 (Pseudoepiphysis of the middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " A secondary ossification center in the middle phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.\n", + " definition of HP:0009520 (Pseudoepiphysis of the middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " Partial duplication of the distal phalanx of the 4th finger\n", + " definition of HP:0009981 (Partial duplication of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " Partial duplication of the distal phalanx of ring finger, seen on x-rays as a broad and/or bifid phalanx.\n", + " definition of HP:0009981 (Partial duplication of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " #Bifid terminal phalanx of the 4th finger #Notched outermost bone of the ring finger #Partial duplication of the outermost bone of the ring finger\n", + " definition of HP:0009981 (Partial duplication of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " Thick spermatozoon midpiece insertion\n", + " definition of HP:0035008 (Thick spermatozoon midpiece insertion)\n", + " \n", + " \n", + " Increased width of the midpiece of the spermatozoon. The midpiece is the structure that is located between the head and the flagella (tail) of the spermatozoon. This term applies if the width of the midpiece increases progressively from the flagella to the head and if the proportion of individual spermatozoa with this anomaly is above the upper limit of normal.\n", + " definition of HP:0035008 (Thick spermatozoon midpiece insertion)\n", + " \n", + " \n", + " Abnormally folded helix\n", + " definition of HP:0008544 (Abnormally folded helix)\n", + " \n", + " \n", + " Any structural anomaly of the border of the helix, which usually forms a rolled rim but is highly variable in shape.\n", + " definition of HP:0008544 (Abnormally folded helix)\n", + " \n", + " \n", + " Thought insertion\n", + " definition of HP:0025776 (Thought insertion)\n", + " \n", + " \n", + " The experience that thoughts are forced into the conscious awareness by external and foreign entities. The affected individual typically does not recognize the thoughts as coming from themselves and may develop secondary delusional ideas to explain the source of the process.\n", + " definition of HP:0025776 (Thought insertion)\n", + " \n", + " \n", + " Abnormal occipital bone morphology\n", + " definition of HP:0012294 (Abnormal occipital bone morphology)\n", + " \n", + " \n", + " Abnormality of the occipital bone of the skull.\n", + " definition of HP:0012294 (Abnormal occipital bone morphology)\n", + " \n", + " \n", + " #Abnormality of the occipital bone\n", + " definition of HP:0012294 (Abnormal occipital bone morphology)\n", + " \n", + " \n", + " Abnormal 5th finger phalanx morphology\n", + " definition of HP:0004213 (Abnormal 5th finger phalanx morphology)\n", + " \n", + " \n", + " Abnormality of the phalanges of the 5th (little) finger.\n", + " definition of HP:0004213 (Abnormal 5th finger phalanx morphology)\n", + " \n", + " \n", + " #Abnormality of the little finger bone #Abnormality of the phalanges of the 5th finger #Abnormality of the pinkie finger bone #Abnormality of the pinky finger bone\n", + " definition of HP:0004213 (Abnormal 5th finger phalanx morphology)\n", + " \n", + " \n", + " Progressive hypotrichosis\n", + " definition of HP:0002296 (Progressive hypotrichosis)\n", + " \n", + " \n", + " Progressively reduced or lacking hair growth.\n", + " definition of HP:0002296 (Progressive hypotrichosis)\n", + " \n", + " \n", + " Crypt hyperplasia\n", + " definition of HP:0034588 (Crypt hyperplasia)\n", + " \n", + " \n", + " Crypt hyperplasia denotes elongation of the length of the crypts of Lieberkuhn, a process that initially precedes villous atrophy. Elongation may be caused by expansion of the lamina propria as a result of the proliferation of stromal cells, an influx of inflammatory cells and tissue remodeling.\n", + " definition of HP:0034588 (Crypt hyperplasia)\n", + " \n", + " \n", + " Tapered tooth\n", + " definition of HP:0033781 (Tapered tooth)\n", + " \n", + " \n", + " A tooth with a crown that narrows from proximal toward the incisal edge. Tapering of teeth typically involves incisors.\n", + " definition of HP:0033781 (Tapered tooth)\n", + " \n", + " \n", + " Poorly demarcated skin lesion\n", + " definition of HP:6000538 (Poorly demarcated skin lesion)\n", + " \n", + " \n", + " Applies to an abnormality of the skin whose boundary to the surrounding normal skin is not clearly defined.\n", + " definition of HP:6000538 (Poorly demarcated skin lesion)\n", + " \n", + " \n", + " Positive treponema pallidum PCR test in the blood circulation\n", + " definition of HP:6000545 (Positive treponema pallidum PCR test in the blood circulation)\n", + " \n", + " \n", + " Detection of nucleic acid of treponema pallidum in the blood circulation by a method such a polymerase chain reaction.\n", + " definition of HP:6000545 (Positive treponema pallidum PCR test in the blood circulation)\n", + " \n", + " \n", + " Renal sodium wasting\n", + " definition of HP:0012606 (Renal sodium wasting)\n", + " \n", + " \n", + " An abnormally increased sodium concentration in the urine in the presence of hyponatremia.\n", + " definition of HP:0012606 (Renal sodium wasting)\n", + " \n", + " \n", + " #Kidney sodium wasting #Renal Na wasting #Renal Na+ wasting\n", + " definition of HP:0012606 (Renal sodium wasting)\n", + " \n", + " \n", + " Decreased CSF tyrosine concentration\n", + " definition of HP:0500221 (Decreased CSF tyrosine concentration)\n", + " \n", + " \n", + " Abnormally decreased levels of tyrosine in cerebrospinal fluid.\n", + " definition of HP:0500221 (Decreased CSF tyrosine concentration)\n", + " \n", + " \n", + " #Low tyrosine levels in the cerebrospinal fluid\n", + " definition of HP:0500221 (Decreased CSF tyrosine concentration)\n", + " \n", + " \n", + " Mandibular cyst\n", + " definition of HP:6000595 (Mandibular cyst)\n", + " \n", + " \n", + " A closed sac that has developed in the lower jaw bone (mandibula) and contains fluid or semi-solid material.\n", + " definition of HP:6000595 (Mandibular cyst)\n", + " \n", + " \n", + " Fractured sternum\n", + " definition of HP:0041246 (Fractured sternum)\n", + " \n", + " \n", + " A partial or complete breakage of the sternum.\n", + " definition of HP:0041246 (Fractured sternum)\n", + " \n", + " \n", + " #bone sternum\n", + " definition of HP:0041246 (Fractured sternum)\n", + " \n", + " \n", + " Abnormal psychotic pattern\n", + " definition of HP:5200430 (Abnormal psychotic pattern)\n", + " \n", + " \n", + " Any abnormal pattern of psychotic experiences, where an individual has significant disturbances in their thoughts, perceptions, emotions, and behavior, resulting in a loss of touch with reality.\n", + " definition of HP:5200430 (Abnormal psychotic pattern)\n", + " \n", + " \n", + " Sclerosis of the middle phalanx of the 5th finger\n", + " definition of HP:0100907 (Sclerosis of the middle phalanx of the 5th finger)\n", + " \n", + " \n", + " #Increased bone density in the middle bone of the little finger #Increased bone density in the middle bone of the pinkie finger #Increased bone density in the middle bone of the pinky finger\n", + " definition of HP:0100907 (Sclerosis of the middle phalanx of the 5th finger)\n", + " \n", + " \n", + " Lymphatic vessel neoplasm\n", + " definition of HP:0012797 (Lymphatic vessel neoplasm)\n", + " \n", + " \n", + " A benign or malignant neoplasm arising from the lymphatic vessels.\n", + " definition of HP:0012797 (Lymphatic vessel neoplasm)\n", + " \n", + " \n", + " #Lymphatic vessel tumor #Lymphatic vessel tumour\n", + " definition of HP:0012797 (Lymphatic vessel neoplasm)\n", + " \n", + " \n", + " Increased circulating alpha-mannosidase activity\n", + " definition of HP:4000191 (Increased circulating alpha-mannosidase activity)\n", + " \n", + " \n", + " Concentration or activity of alpha mannosidase above the upper limit of normal in the blood circulation.\n", + " definition of HP:4000191 (Increased circulating alpha-mannosidase activity)\n", + " \n", + " \n", + " Coalescence of tarsal bones\n", + " definition of HP:0005802 (Coalescence of tarsal bones)\n", + " \n", + " \n", + " Neuritis\n", + " definition of HP:0031002 (Neuritis)\n", + " \n", + " \n", + " Inflammation of a nerve.\n", + " definition of HP:0031002 (Neuritis)\n", + " \n", + " \n", + " Hyperthyroidism\n", + " definition of HP:0000836 (Hyperthyroidism)\n", + " \n", + " \n", + " An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3).\n", + " definition of HP:0000836 (Hyperthyroidism)\n", + " \n", + " \n", + " #Overactive thyroid\n", + " definition of HP:0000836 (Hyperthyroidism)\n", + " \n", + " \n", + " Abnormal erythrocyte UDP glucose-4-epimerase concentration\n", + " definition of HP:0410196 (Abnormal erythrocyte UDP glucose-4-epimerase concentration)\n", + " \n", + " \n", + " An abnormality in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.\n", + " definition of HP:0410196 (Abnormal erythrocyte UDP glucose-4-epimerase concentration)\n", + " \n", + " \n", + " #Abnormal erythrocyte uridine diphosphate glucose-4-epimerase concentration #Abnormal UDP-glucose 4-epimerase level in RBCs #Abnormal UDP-glucose 4-epimerase level in red blood cells #Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells\n", + " definition of HP:0410196 (Abnormal erythrocyte UDP glucose-4-epimerase concentration)\n", + " \n", + " \n", + " Absent epiphysis of the 1st metatarsal\n", + " definition of HP:0010149 (Absent epiphysis of the 1st metatarsal)\n", + " \n", + " \n", + " Failure to form (agenesis) of the epiphysis of the 1st metatarsal.\n", + " definition of HP:0010149 (Absent epiphysis of the 1st metatarsal)\n", + " \n", + " \n", + " #Absent end part of the 1st long bone of foot\n", + " definition of HP:0010149 (Absent epiphysis of the 1st metatarsal)\n", + " \n", + " \n", + " Osteochondrosis\n", + " definition of HP:0040188 (Osteochondrosis)\n", + " \n", + " \n", + " Abnormal growth ossification centers in children. Initially a degeneration/ necrosis followed by regeneration or recalcification.\n", + " definition of HP:0040188 (Osteochondrosis)\n", + " \n", + " \n", + " Mild postnatal growth retardation\n", + " definition of HP:0001530 (Mild postnatal growth retardation)\n", + " \n", + " \n", + " A mild degree of slow or limited growth after birth, being between two and three standard deviations below age- and sex-related norms.\n", + " definition of HP:0001530 (Mild postnatal growth retardation)\n", + " \n", + " \n", + " #Postnatal onset of mild growth retardation\n", + " definition of HP:0001530 (Mild postnatal growth retardation)\n", + " \n", + " \n", + " Abnormal branching pattern of the aortic arch\n", + " definition of HP:0011587 (Abnormal branching pattern of the aortic arch)\n", + " \n", + " \n", + " A deviance from the norm of the origin or course of the right brachiocephalic artery, the left common carotid artery, the left subclavian artery or the proximal vertebral arteries.\n", + " definition of HP:0011587 (Abnormal branching pattern of the aortic arch)\n", + " \n", + " \n", + " Rightward direction of ventricular apex\n", + " definition of HP:0011601 (Rightward direction of ventricular apex)\n", + " \n", + " \n", + " Abnormal plane of direction of the heart from the base to the apex towards the right. Left sided is normal.\n", + " definition of HP:0011601 (Rightward direction of ventricular apex)\n", + " \n", + " \n", + " Situs inversus with levocardia\n", + " definition of HP:0031592 (Situs inversus with levocardia)\n", + " \n", + " \n", + " Situs inversus of thoracic and abdominal viscera with the heart remaining normally situated on the left; usually associated with congenital cardiac abnormalities such as transposition of the great vessels and/or spleen defects including asplenia or polysplenia.\n", + " definition of HP:0031592 (Situs inversus with levocardia)\n", + " \n", + " \n", + " Bracket epiphysis of the distal phalanx of the 5th finger\n", + " definition of HP:0009187 (Bracket epiphysis of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " An abnormality of the distal phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.\n", + " definition of HP:0009187 (Bracket epiphysis of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " #Bracket shaped end part of the outermost little finger bone #Bracket shaped end part of the outermost pinkie finger bone #Bracket shaped end part of the outermost pinky finger bone\n", + " definition of HP:0009187 (Bracket epiphysis of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " Abnormal cervical myelogram\n", + " definition of HP:0005788 (Abnormal cervical myelogram)\n", + " \n", + " \n", + " Myopia\n", + " definition of HP:0000545 (Myopia)\n", + " \n", + " \n", + " An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.\n", + " definition of HP:0000545 (Myopia)\n", + " \n", + " \n", + " #Close sighted #Near sighted #Near sightedness #Nearsightedness\n", + " definition of HP:0000545 (Myopia)\n", + " \n", + " \n", + " Very severe constriction of peripheral visual field\n", + " definition of HP:0030527 (Very severe constriction of peripheral visual field)\n", + " \n", + " \n", + " Peripheral visual field constriction with <10 degrees central field preserved.\n", + " definition of HP:0030527 (Very severe constriction of peripheral visual field)\n", + " \n", + " \n", + " #Very severe peripheral visual field loss\n", + " definition of HP:0030527 (Very severe constriction of peripheral visual field)\n", + " \n", + " \n", + " Prominent palmar flexion creases\n", + " definition of HP:0006157 (Prominent palmar flexion creases)\n", + " \n", + " \n", + " Triggered by fava bean ingestion\n", + " definition of HP:0034060 (Triggered by fava bean ingestion)\n", + " \n", + " \n", + " Applies to a sign or symptom that is provoked or brought about by eating fava beans.\n", + " definition of HP:0034060 (Triggered by fava bean ingestion)\n", + " \n", + " \n", + " Increased mean corpuscular hemoglobin concentration\n", + " definition of HP:0025548 (Increased mean corpuscular hemoglobin concentration)\n", + " \n", + " \n", + " An elevation over the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell).\n", + " definition of HP:0025548 (Increased mean corpuscular hemoglobin concentration)\n", + " \n", + " \n", + " #Increased MCH #Increased MCHC #Increased mean corpuscular haemoglobin #Increased mean corpuscular haemoglobin concentration #Increased mean corpuscular Hb concentration\n", + " definition of HP:0025548 (Increased mean corpuscular hemoglobin concentration)\n", + " \n", + " \n", + " Irregular epiphyses of the toes\n", + " definition of HP:0010167 (Irregular epiphyses of the toes)\n", + " \n", + " \n", + " #Irregular end part of the toe bones\n", + " definition of HP:0010167 (Irregular epiphyses of the toes)\n", + " \n", + " \n", + " Decreased level of coenzyme Q10 in skeletal muscle\n", + " definition of HP:0034369 (Decreased level of coenzyme Q10 in skeletal muscle)\n", + " \n", + " \n", + " Reduced amount of coenzyme Q10,a naturally occurring quinone, in skeletal muscle tissue.\n", + " definition of HP:0034369 (Decreased level of coenzyme Q10 in skeletal muscle)\n", + " \n", + " \n", + " Increased serum estradiol\n", + " definition of HP:0025134 (Increased serum estradiol)\n", + " \n", + " \n", + " An elevation above normal limits of the concentration of estradiol in the circulation.\n", + " definition of HP:0025134 (Increased serum estradiol)\n", + " \n", + " \n", + " #Increased estradiol level #Increased serum oestradiol\n", + " definition of HP:0025134 (Increased serum estradiol)\n", + " \n", + " \n", + " Vegan diet\n", + " definition of HP:4000172 (Vegan diet)\n", + " \n", + " \n", + " A history of following a vegan diet characterized by avoidance of food sourced from animals including meet, fish, and dairy products.\n", + " definition of HP:4000172 (Vegan diet)\n", + " \n", + " \n", + " Severe B lymphocytopenia\n", + " definition of HP:0005365 (Severe B lymphocytopenia)\n", + " \n", + " \n", + " A severe form of B lymphocytopenia in which the count of B cells is very low or absent.\n", + " definition of HP:0005365 (Severe B lymphocytopenia)\n", + " \n", + " \n", + " #Absent B cells\n", + " definition of HP:0005365 (Severe B lymphocytopenia)\n", + " \n", + " \n", + " Mesomelic short stature\n", + " definition of HP:0008845 (Mesomelic short stature)\n", + " \n", + " \n", + " A type of disproportionate short stature characterized by disproportionate shortening of the medial parts of the extremities (forearm or lower leg).\n", + " definition of HP:0008845 (Mesomelic short stature)\n", + " \n", + " \n", + " #Dwarfism, short limb mesomelic #Mesomelic dwarfism #Short stature, disproportionate mesomelic #Short stature, mesomelic\n", + " definition of HP:0008845 (Mesomelic short stature)\n", + " \n", + " \n", + " Fatty replacement of skeletal muscle\n", + " definition of HP:0012548 (Fatty replacement of skeletal muscle)\n", + " \n", + " \n", + " Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers\n", + " definition of HP:0012548 (Fatty replacement of skeletal muscle)\n", + " \n", + " \n", + " #Skeletal muscle fatty infiltration\n", + " definition of HP:0012548 (Fatty replacement of skeletal muscle)\n", + " \n", + " \n", + " Tubularization of Bowman capsule\n", + " definition of HP:0032648 (Tubularization of Bowman capsule)\n", + " \n", + " \n", + " The presence of cuboidal to columnar epithelium (height greater than width) lining the Bowman capsule, in an absence of adjacent segmental sclerosis, crescents, or collapsing variant of focal segmental glomerulosclerosis; scored as present or absent in at least one glomerulus.\n", + " definition of HP:0032648 (Tubularization of Bowman capsule)\n", + " \n", + " \n", + " Hemimacroglossia\n", + " definition of HP:0100875 (Hemimacroglossia)\n", + " \n", + " \n", + " Increased length and width of one half of the tongue.\n", + " definition of HP:0100875 (Hemimacroglossia)\n", + " \n", + " \n", + " #Hemiglossal hypertrophy #Hypertrophy of half of the tongue #Increased size of half of the tongue #Large half of tongue\n", + " definition of HP:0100875 (Hemimacroglossia)\n", + " \n", + " \n", + " Cyst of the ductus choledochus\n", + " definition of HP:0100890 (Cyst of the ductus choledochus)\n", + " \n", + " \n", + " #Choledochal cyst\n", + " definition of HP:0100890 (Cyst of the ductus choledochus)\n", + " \n", + " \n", + " Blood group\n", + " definition of HP:0032223 (Blood group)\n", + " \n", + " \n", + " Any of the various types of human blood whose antigen characteristics determine compatibility in transfusion. While the ABO and Rhesus systems are the most well known, there are in total about 300 different blood type antigens distributed across 34 different blood type systems.\n", + " definition of HP:0032223 (Blood group)\n", + " \n", + " \n", + " Comma-shaped scaphoid\n", + " definition of HP:0004245 (Comma-shaped scaphoid)\n", + " \n", + " \n", + " EEG with parietal epileptiform discharges\n", + " definition of HP:0033719 (EEG with parietal epileptiform discharges)\n", + " \n", + " \n", + " Focal epileptiform EEG discharges recorded in the parietal region.\n", + " definition of HP:0033719 (EEG with parietal epileptiform discharges)\n", + " \n", + " \n", + " Abnormal molar morphology\n", + " definition of HP:0011070 (Abnormal molar morphology)\n", + " \n", + " \n", + " An abnormality of morphology of molar tooth.\n", + " definition of HP:0011070 (Abnormal molar morphology)\n", + " \n", + " \n", + " #Abnormal shape of molar tooth #Abnormality of molar morphology\n", + " definition of HP:0011070 (Abnormal molar morphology)\n", + " \n", + " \n", + " EEG with focal sharp slow waves\n", + " definition of HP:0011195 (EEG with focal sharp slow waves)\n", + " \n", + " \n", + " EEG with focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.\n", + " definition of HP:0011195 (EEG with focal sharp slow waves)\n", + " \n", + " \n", + " Superior crossed-fused renal ectopia\n", + " definition of HP:0034235 (Superior crossed-fused renal ectopia)\n", + " \n", + " \n", + " A type of cross fused renal ectopia in which the ectopic kidney lies superiorly and its lower pole fuses with the upper pole of the normal kidney. The renal pelvis of both kidneys lies anteriorly.\n", + " definition of HP:0034235 (Superior crossed-fused renal ectopia)\n", + " \n", + " \n", + " Abnormal axial muscle morphology\n", + " definition of HP:0040286 (Abnormal axial muscle morphology)\n", + " \n", + " \n", + " A structural anomaly of the muscles of the trunk and head.\n", + " definition of HP:0040286 (Abnormal axial muscle morphology)\n", + " \n", + " \n", + " #Abnormality of axial muscles\n", + " definition of HP:0040286 (Abnormal axial muscle morphology)\n", + " \n", + " \n", + " Edema of the dorsum of feet\n", + " definition of HP:0012098 (Edema of the dorsum of feet)\n", + " \n", + " \n", + " An abnormal accumulation of fluid beneath the skin on the back of the feet.\n", + " definition of HP:0012098 (Edema of the dorsum of feet)\n", + " \n", + " \n", + " #Edema of dorsum of feet #Oedema of dorsum of feet #Oedema of the dorsum of feet\n", + " definition of HP:0012098 (Edema of the dorsum of feet)\n", + " \n", + " \n", + " Snowflake effect in amniotic cavity\n", + " definition of HP:6000341 (Snowflake effect in amniotic cavity)\n", + " \n", + " \n", + " Dense floating particles in amniotic fluid, said to resemble snowflakes. This finding can result from shedding of the epidermis in conditions such as Harlequin ichthyosis.\n", + " definition of HP:6000341 (Snowflake effect in amniotic cavity)\n", + " \n", + " \n", + " #Snowflake sign\n", + " definition of HP:6000341 (Snowflake effect in amniotic cavity)\n", + " \n", + " \n", + " Glomerular hyalinosis\n", + " definition of HP:0033216 (Glomerular hyalinosis)\n", + " \n", + " \n", + " Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus. Distribution can include vascular pole, perihilar, tip or neither tip, perihilar or vascular.\n", + " definition of HP:0033216 (Glomerular hyalinosis)\n", + " \n", + " \n", + " Reduced fibroblast CD55 level\n", + " definition of HP:0031557 (Reduced fibroblast CD55 level)\n", + " \n", + " \n", + " Reduced level of CD55 on the fibroblast surface as assessed by flow cytometry.\n", + " definition of HP:0031557 (Reduced fibroblast CD55 level)\n", + " \n", + " \n", + " Embryonal rhabdomyosarcoma\n", + " definition of HP:0006743 (Embryonal rhabdomyosarcoma)\n", + " \n", + " \n", + " Decreased circulating membrane cofactor protein concentration\n", + " definition of HP:0034619 (Decreased circulating membrane cofactor protein concentration)\n", + " \n", + " \n", + " Concentration of membrane cofactor protein in the blood circulation below the lower limit of normal.\n", + " definition of HP:0034619 (Decreased circulating membrane cofactor protein concentration)\n", + " \n", + " \n", + " #Decreased circulating CD46 concentration #MCP (membrane cofactor protein) low in blood\n", + " definition of HP:0034619 (Decreased circulating membrane cofactor protein concentration)\n", + " \n", + " \n", + " Impaired collagen-related peptide-induced platelet aggregation\n", + " definition of HP:0031128 (Impaired collagen-related peptide-induced platelet aggregation)\n", + " \n", + " \n", + " Abnormal response to collagen-related peptide (CRP) as manifested by reduced or lacking aggregation of platelets upon addition of CRP.\n", + " definition of HP:0031128 (Impaired collagen-related peptide-induced platelet aggregation)\n", + " \n", + " \n", + " Macrosaccadic oscillations\n", + " definition of HP:0032105 (Macrosaccadic oscillations)\n", + " \n", + " \n", + " A type of saccadic oscillations with brief periods of fixation between saccades (intersaccadic interval approximately 200 msec). Macrosaccadic oscillations (up to 40 degrees) straddle the intended fixation position and show a crescendo-decrescendo pattern.\n", + " definition of HP:0032105 (Macrosaccadic oscillations)\n", + " \n", + " \n", + " #Macrosaccadic oscillation\n", + " definition of HP:0032105 (Macrosaccadic oscillations)\n", + " \n", + " \n", + " Type A1 brachydactyly\n", + " definition of HP:0009371 (Type A1 brachydactyly)\n", + " \n", + " \n", + " Ridged cranial sutures\n", + " definition of HP:0010823 (Ridged cranial sutures)\n", + " \n", + " \n", + " An overlap of the bony plates of the skull in an infant, with or without early closure.\n", + " definition of HP:0010823 (Ridged cranial sutures)\n", + " \n", + " \n", + " #Cranial suture ridges\n", + " definition of HP:0010823 (Ridged cranial sutures)\n", + " \n", + " \n", + " Male pseudohermaphroditism\n", + " definition of HP:0000037 (Male pseudohermaphroditism)\n", + " \n", + " \n", + " Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes.\n", + " definition of HP:0000037 (Male pseudohermaphroditism)\n", + " \n", + " \n", + " Shoulder external rotation contracture\n", + " definition of HP:0034991 (Shoulder external rotation contracture)\n", + " \n", + " \n", + " A type of shoulder contracture characterized by decreased internal rotation of shoulder, that is, by a chronic reduction in active and passive ability to internally rotate the humerus at the shoulder joint (if the arm is flexed at the elbow, Internal rotation of the shoulder rotates the forearm towards the center of the body).\n", + " definition of HP:0034991 (Shoulder external rotation contracture)\n", + " \n", + " \n", + " #External rotation contracture of the shoulder joint\n", + " definition of HP:0034991 (Shoulder external rotation contracture)\n", + " \n", + " \n", + " Hypercapnia\n", + " definition of HP:0012416 (Hypercapnia)\n", + " \n", + " \n", + " Abnormally elevated blood carbon dioxide (CO2) level.\n", + " definition of HP:0012416 (Hypercapnia)\n", + " \n", + " \n", + " #High blood carbon dioxide level #Hypercarbia\n", + " definition of HP:0012416 (Hypercapnia)\n", + " \n", + " \n", + " Chiari type III malformation\n", + " definition of HP:0025661 (Chiari type III malformation)\n", + " \n", + " \n", + " A type of Chiari malformation that involves herniation of the hindbrain (cerebellum with or without the brainstem) into a low occipital or high cervical meningoencephalocele.\n", + " definition of HP:0025661 (Chiari type III malformation)\n", + " \n", + " \n", + " #Arnold-Chiari type III malformation\n", + " definition of HP:0025661 (Chiari type III malformation)\n", + " \n", + " \n", + " Perifissural pulmonary nodule\n", + " definition of HP:0033613 (Perifissural pulmonary nodule)\n", + " \n", + " \n", + " Solid, homogenous nodules characterized by a smooth margin and oval, rounded, lentiform or triangular shape. They are typically located within 15 mm from the issue or the pleura. Perifissural nodules may be further differentiated into typical (have contact with interlobar septum) and atypical (do not have contact with interlobar septum). They likely represent intrapulmonary lymphnodes.\n", + " definition of HP:0033613 (Perifissural pulmonary nodule)\n", + " \n", + " \n", + " Elbow dislocation\n", + " definition of HP:0003042 (Elbow dislocation)\n", + " \n", + " \n", + " Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet.\n", + " definition of HP:0003042 (Elbow dislocation)\n", + " \n", + " \n", + " #Dislocations of the elbows #Elbow dislocation #Elbow dislocations #Radiocapitellar dislocation #Radiohumeral dislocation #Ulnohumeral dislocation\n", + " definition of HP:0003042 (Elbow dislocation)\n", + " \n", + " \n", + " Increased intracranial pressure\n", + " definition of HP:0002516 (Increased intracranial pressure)\n", + " \n", + " \n", + " An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid.\n", + " definition of HP:0002516 (Increased intracranial pressure)\n", + " \n", + " \n", + " #Intracranial hypertension #Intracranial pressure elevation #Rise in pressure inside skull\n", + " definition of HP:0002516 (Increased intracranial pressure)\n", + " \n", + " \n", + " Partial beta-EEG\n", + " definition of HP:0011180 (Partial beta-EEG)\n", + " \n", + " \n", + " EEG dominated by diffuse beta waves (>13 Hz) with occipitally localized alpha waves (8-13 Hz).\n", + " definition of HP:0011180 (Partial beta-EEG)\n", + " \n", + " \n", + " History of outdoor activities\n", + " definition of HP:6000094 (History of outdoor activities)\n", + " \n", + " \n", + " History of spending a substantial amount of time outdoors with occupation or hobbies related to the outdoors, including hunting, gardening, farming, agriculture, horticulture, miners, working in wet fields.\n", + " definition of HP:6000094 (History of outdoor activities)\n", + " \n", + " \n", + " Selective tooth agenesis\n", + " definition of HP:0001592 (Selective tooth agenesis)\n", + " \n", + " \n", + " Agenesis specifically affecting one of the classes incisor, premolar, or molar.\n", + " definition of HP:0001592 (Selective tooth agenesis)\n", + " \n", + " \n", + " #Agenesis of a tooth #Failure of development of a tooth\n", + " definition of HP:0001592 (Selective tooth agenesis)\n", + " \n", + " \n", + " Aplasia of the epiglottis\n", + " definition of HP:0008753 (Aplasia of the epiglottis)\n", + " \n", + " \n", + " Absence of the epiglottis.\n", + " definition of HP:0008753 (Aplasia of the epiglottis)\n", + " \n", + " \n", + " #Absent epiglottis\n", + " definition of HP:0008753 (Aplasia of the epiglottis)\n", + " \n", + " \n", + " Proximal muscle weakness in lower limbs\n", + " definition of HP:0008994 (Proximal muscle weakness in lower limbs)\n", + " \n", + " \n", + " A lack of strength of the proximal muscles of the legs.\n", + " definition of HP:0008994 (Proximal muscle weakness in lower limbs)\n", + " \n", + " \n", + " #Muscle weakness, proximal, lower limbs\n", + " definition of HP:0008994 (Proximal muscle weakness in lower limbs)\n", + " \n", + " \n", + " Rheumatoid arthritis\n", + " definition of HP:0001370 (Rheumatoid arthritis)\n", + " \n", + " \n", + " Inflammatory changes in the synovial membranes and articular structures with widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, as well as atrophy and rarefaction of bony structures.\n", + " definition of HP:0001370 (Rheumatoid arthritis)\n", + " \n", + " \n", + " #RA #Rheumatoid arthritis\n", + " definition of HP:0001370 (Rheumatoid arthritis)\n", + " \n", + " \n", + " Madelung-like forearm deformities\n", + " definition of HP:0003068 (Madelung-like forearm deformities)\n", + " \n", + " \n", + " Polygenic inheritance\n", + " definition of HP:0010982 (Polygenic inheritance)\n", + " \n", + " \n", + " A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases.\n", + " definition of HP:0010982 (Polygenic inheritance)\n", + " \n", + " \n", + " Triggered by ingestion of potassium-rich food\n", + " definition of HP:0031167 (Triggered by ingestion of potassium-rich food)\n", + " \n", + " \n", + " Applies to a sign or symptom that is provoked or brought about by eating or drinking foods rich in potassium.\n", + " definition of HP:0031167 (Triggered by ingestion of potassium-rich food)\n", + " \n", + " \n", + " #Potassium-rich food triggered symptoms #Triggered by ingestion of K-rich food\n", + " definition of HP:0031167 (Triggered by ingestion of potassium-rich food)\n", + " \n", + " \n", + " Premature coronary artery atherosclerosis\n", + " definition of HP:0005181 (Premature coronary artery atherosclerosis)\n", + " \n", + " \n", + " Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45.\n", + " definition of HP:0005181 (Premature coronary artery atherosclerosis)\n", + " \n", + " \n", + " #Premature coronary artery disease\n", + " definition of HP:0005181 (Premature coronary artery atherosclerosis)\n", + " \n", + " \n", + " Aplasia cutis congenita of scalp\n", + " definition of HP:0007385 (Aplasia cutis congenita of scalp)\n", + " \n", + " \n", + " A developmental defect resulting in the congenital absence of skin on the scalp.\n", + " definition of HP:0007385 (Aplasia cutis congenita of scalp)\n", + " \n", + " \n", + " #Scalp aplasia cutis congenita\n", + " definition of HP:0007385 (Aplasia cutis congenita of scalp)\n", + " \n", + " \n", + " Tremor by anatomical site\n", + " definition of HP:0030188 (Tremor by anatomical site)\n", + " \n", + " \n", + " Tremor classified by the affected body part.\n", + " definition of HP:0030188 (Tremor by anatomical site)\n", + " \n", + " \n", + " #Tremor of a body part\n", + " definition of HP:0030188 (Tremor by anatomical site)\n", + " \n", + " \n", + " Recent history of sedation by propofol infusion\n", + " definition of HP:6000883 (Recent history of sedation by propofol infusion)\n", + " \n", + " \n", + " A history of exposure to anesthesia by propofanol infusion recently before the presenting complaint.\n", + " definition of HP:6000883 (Recent history of sedation by propofol infusion)\n", + " \n", + " \n", + " EEG with periodic lateralized epileptiform discharges\n", + " definition of HP:0010853 (EEG with periodic lateralized epileptiform discharges)\n", + " \n", + " \n", + " Periodic lateralized epileptiform discharges (PLEDs)are periodic, lateralized, and epileptiform. PLEDs show a relatively constant interval between discharges (0.5 to 3 seconds).\n", + " definition of HP:0010853 (EEG with periodic lateralized epileptiform discharges)\n", + " \n", + " \n", + " #EEG: periodic lateralized epileptiform discharges\n", + " definition of HP:0010853 (EEG with periodic lateralized epileptiform discharges)\n", + " \n", + " \n", + " Weak anal sphincter tone\n", + " definition of HP:0034917 (Weak anal sphincter tone)\n", + " \n", + " \n", + " Reduced muscle tone of the sphincter of the anus.\n", + " definition of HP:0034917 (Weak anal sphincter tone)\n", + " \n", + " \n", + " Nasal polyposis\n", + " definition of HP:0100582 (Nasal polyposis)\n", + " \n", + " \n", + " Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis.\n", + " definition of HP:0100582 (Nasal polyposis)\n", + " \n", + " \n", + " #Nasal polyps #Polyposis nasi #Polyps of nose\n", + " definition of HP:0100582 (Nasal polyposis)\n", + " \n", + " \n", + " Chronic hemolytic anemia\n", + " definition of HP:0004870 (Chronic hemolytic anemia)\n", + " \n", + " \n", + " An chronic form of hemolytic anemia.\n", + " definition of HP:0004870 (Chronic hemolytic anemia)\n", + " \n", + " \n", + " #Chronic hemolytic anaemia #hemolytic anemia, chronic\n", + " definition of HP:0004870 (Chronic hemolytic anemia)\n", + " \n", + " \n", + " Abnormality of the foot musculature\n", + " definition of HP:0001436 (Abnormality of the foot musculature)\n", + " \n", + " \n", + " An anomaly of the musculature of foot.\n", + " definition of HP:0001436 (Abnormality of the foot musculature)\n", + " \n", + " \n", + " #Abnormal foot muscles\n", + " definition of HP:0001436 (Abnormality of the foot musculature)\n", + " \n", + " \n", + " Late-onset spinocerebellar degeneration\n", + " definition of HP:0006904 (Late-onset spinocerebellar degeneration)\n", + " \n", + " \n", + " Skin erosion\n", + " definition of HP:0200041 (Skin erosion)\n", + " \n", + " \n", + " A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed.\n", + " definition of HP:0200041 (Skin erosion)\n", + " \n", + " \n", + " Abnormality of the fifth metatarsal bone\n", + " definition of HP:0008089 (Abnormality of the fifth metatarsal bone)\n", + " \n", + " \n", + " An anomaly of the fifth metatarsal bone.\n", + " definition of HP:0008089 (Abnormality of the fifth metatarsal bone)\n", + " \n", + " \n", + " #Abnormality of the 5th long bone of foot\n", + " definition of HP:0008089 (Abnormality of the fifth metatarsal bone)\n", + " \n", + " \n", + " Positive stool methadone test\n", + " definition of HP:0410307 (Positive stool methadone test)\n", + " \n", + " \n", + " Detection of methadone and its metabolites in the stool.\n", + " definition of HP:0410307 (Positive stool methadone test)\n", + " \n", + " \n", + " Hypoplasia of lymphatic vessels\n", + " definition of HP:0003759 (Hypoplasia of lymphatic vessels)\n", + " \n", + " \n", + " Congenital underdevelopment of lymph vessels.\n", + " definition of HP:0003759 (Hypoplasia of lymphatic vessels)\n", + " \n", + " \n", + " #Underdeveloped lymphatic vessels\n", + " definition of HP:0003759 (Hypoplasia of lymphatic vessels)\n", + " \n", + " \n", + " Unilateral vocal cord paralysis\n", + " definition of HP:0008757 (Unilateral vocal cord paralysis)\n", + " \n", + " \n", + " A loss of the ability to move the vocal fold on one side.\n", + " definition of HP:0008757 (Unilateral vocal cord paralysis)\n", + " \n", + " \n", + " #Unilateral paralysis of the vocal cord\n", + " definition of HP:0008757 (Unilateral vocal cord paralysis)\n", + " \n", + " \n", + " Microvillus inclusions\n", + " definition of HP:0033995 (Microvillus inclusions)\n", + " \n", + " \n", + " The presence of vacuoles bearing centripetal microvilli in small gut villus enterocytes.\n", + " definition of HP:0033995 (Microvillus inclusions)\n", + " \n", + " \n", + " Pancreatic adenocarcinoma\n", + " definition of HP:0006725 (Pancreatic adenocarcinoma)\n", + " \n", + " \n", + " The presence of an adenocarcinoma of the pancreas.\n", + " definition of HP:0006725 (Pancreatic adenocarcinoma)\n", + " \n", + " \n", + " Abnormal platelet lysosome secretion\n", + " definition of HP:0030400 (Abnormal platelet lysosome secretion)\n", + " \n", + " \n", + " Abnormal release of lysosome contents from platelets.\n", + " definition of HP:0030400 (Abnormal platelet lysosome secretion)\n", + " \n", + " \n", + " Abnormal circulating copper concentration\n", + " definition of HP:0010836 (Abnormal circulating copper concentration)\n", + " \n", + " \n", + " An abnormal concentration of copper.\n", + " definition of HP:0010836 (Abnormal circulating copper concentration)\n", + " \n", + " \n", + " Hippocampal malrotation\n", + " definition of HP:0034396 (Hippocampal malrotation)\n", + " \n", + " \n", + " Hippocampal malrotation, also termed incomplete inversion of the hippocampus or hippocampal malformation, is an increasingly recognized neuroimaging finding of undetermined clinical significance. It is characterized by features including (i) Round or pyramidal shape instead of ovoid shape; (ii) Medial position of the hippocampus on the hippocampal sulcus; (iii) The collateral sulcus is excessively deep or verticalized; (iv) Fimbria located medial to the hippocampus; (v) Small or displaced fornix; (vi) Enlarged temporal horn and empty choroid fissure; (vii) Thickened subiculum; (viii) Reduced upper horizontal portion of the parahippocampal gyrus.\n", + " definition of HP:0034396 (Hippocampal malrotation)\n", + " \n", + " \n", + " Contracture of the proximal interphalangeal joint of the 2nd finger\n", + " definition of HP:0009540 (Contracture of the proximal interphalangeal joint of the 2nd finger)\n", + " \n", + " \n", + " Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue.\n", + " definition of HP:0009540 (Contracture of the proximal interphalangeal joint of the 2nd finger)\n", + " \n", + " \n", + " #Camptodactyly of 2nd finger #Camptodactyly of index finger #Camptodactyly of second finger\n", + " definition of HP:0009540 (Contracture of the proximal interphalangeal joint of the 2nd finger)\n", + " \n", + " \n", + " Fetal lower urinary tract obstruction\n", + " definition of HP:0034247 (Fetal lower urinary tract obstruction)\n", + " \n", + " \n", + " An obstruction in the ureter leading to bladder outlet obstruction. Special criteria are used for lower urinary tract obstruction (LUTO) in the fetus. Prenatal LUTO has classically been suspected on the basis of three ultrasonographic findings: megacystis, dilated posterior urethra (known as the keyhole sign) and hydronephrosis.\n", + " definition of HP:0034247 (Fetal lower urinary tract obstruction)\n", + " \n", + " \n", + " Abnormal dura mater morphology\n", + " definition of HP:0010652 (Abnormal dura mater morphology)\n", + " \n", + " \n", + " An abnormality of the Dura mater.\n", + " definition of HP:0010652 (Abnormal dura mater morphology)\n", + " \n", + " \n", + " #Abnormality of the dura mater\n", + " definition of HP:0010652 (Abnormal dura mater morphology)\n", + " \n", + " \n", + " Amplification of interpersonal communication\n", + " definition of HP:5200311 (Amplification of interpersonal communication)\n", + " \n", + " \n", + " An increase in the tendency of a person to share information or emotions compared to that person's previous norms.\n", + " definition of HP:5200311 (Amplification of interpersonal communication)\n", + " \n", + " \n", + " #Heightened, amplified social expression and social connectedness #Increase in interpersonal communication\n", + " definition of HP:5200311 (Amplification of interpersonal communication)\n", + " \n", + " \n", + " Euphoria\n", + " definition of HP:0031844 (Euphoria)\n", + " \n", + " \n", + " Euphoria is an overwhelming and all-encompassing feeling of intense inner sense of joy, happiness, excitement, or elation that is far beyond and blatantly abnormal for what would typically be anticipated in the context or social circumstance. It is experienced as an unusual pleasurable feeling often with an inspirational sense of profound insight.\n", + " definition of HP:0031844 (Euphoria)\n", + " \n", + " \n", + " #Euphoric mood\n", + " definition of HP:0031844 (Euphoria)\n", + " \n", + " \n", + " Large face\n", + " definition of HP:0100729 (Large face)\n", + " \n", + " \n", + " #Big face #Large face #Large facies\n", + " definition of HP:0100729 (Large face)\n", + " \n", + " \n", + " Autosomal recessive inheritance\n", + " definition of HP:0000007 (Autosomal recessive inheritance)\n", + " \n", + " \n", + " A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).\n", + " definition of HP:0000007 (Autosomal recessive inheritance)\n", + " \n", + " \n", + " #Autosomal recessive #biallelic_autosomal\n", + " definition of HP:0000007 (Autosomal recessive inheritance)\n", + " \n", + " \n", + " Gastroesophageal reflux\n", + " definition of HP:0002020 (Gastroesophageal reflux)\n", + " \n", + " \n", + " A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.\n", + " definition of HP:0002020 (Gastroesophageal reflux)\n", + " \n", + " \n", + " #Acid reflux #Acid reflux disease #Gastro-esophageal reflux #Gastro-oesophageal reflux #Gastroesophageal reflux disease #GERD #GORD #Heartburn\n", + " definition of HP:0002020 (Gastroesophageal reflux)\n", + " \n", + " \n", + " Sacral segmentation defect\n", + " definition of HP:0008490 (Sacral segmentation defect)\n", + " \n", + " \n", + " Reduced circulating interleukin 7 concentration\n", + " definition of HP:0034486 (Reduced circulating interleukin 7 concentration)\n", + " \n", + " \n", + " A diminished concentration of interleukin-7 in the circulation.\n", + " definition of HP:0034486 (Reduced circulating interleukin 7 concentration)\n", + " \n", + " \n", + " #IL-7 low in blood\n", + " definition of HP:0034486 (Reduced circulating interleukin 7 concentration)\n", + " \n", + " \n", + " Crackles\n", + " definition of HP:0030830 (Crackles)\n", + " \n", + " \n", + " Crackles are discontinuous, explosive, and nonmusical adventitious lung sounds normally heard in inspiration and sometimes during expiration. Crackles are usually classified as fine and coarse crackles based on their duration, loudness, pitch, timing in the respiratory cycle, and relationship to coughing and changing body position.\n", + " definition of HP:0030830 (Crackles)\n", + " \n", + " \n", + " #Crepitations #Rales\n", + " definition of HP:0030830 (Crackles)\n", + " \n", + " \n", + " Tongue telangiectasia\n", + " definition of HP:0000227 (Tongue telangiectasia)\n", + " \n", + " \n", + " Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the tongue.\n", + " definition of HP:0000227 (Tongue telangiectasia)\n", + " \n", + " \n", + " #Lingual telangiectasia\n", + " definition of HP:0000227 (Tongue telangiectasia)\n", + " \n", + " \n", + " Positive perchlorate discharge test\n", + " definition of HP:0025482 (Positive perchlorate discharge test)\n", + " \n", + " \n", + " An abnormal result of the perchlorate discharge test. In this test, first radioactive iodine is administered, sufficient time is allowed to pass so that the radioactive iodine is captured by the thyroid,and then, perchlorate is administered orally. The perchlorate displaces non-organified iodide from the thyroid. The perchlorate discharge test is considered positive (abnormal) if there is an abnormally rapid loss of radioactive iodine from the thyroid.\n", + " definition of HP:0025482 (Positive perchlorate discharge test)\n", + " \n", + " \n", + " Cryptozoospermia\n", + " definition of HP:0030974 (Cryptozoospermia)\n", + " \n", + " \n", + " A type of oligozoospermia in which spermatozoa can be detected in an ejaculate only after centrifugation and inspection of the pellet.\n", + " definition of HP:0030974 (Cryptozoospermia)\n", + " \n", + " \n", + " #Cryptospermia\n", + " definition of HP:0030974 (Cryptozoospermia)\n", + " \n", + " \n", + " Exposure to oily lotions or creams\n", + " definition of HP:6001094 (Exposure to oily lotions or creams)\n", + " \n", + " \n", + " A history of applying oily lotions or creams to the skin.\n", + " definition of HP:6001094 (Exposure to oily lotions or creams)\n", + " \n", + " \n", + " Elevated alkaline phosphatase of bone origin\n", + " definition of HP:0010639 (Elevated alkaline phosphatase of bone origin)\n", + " \n", + " \n", + " An abnormally increased level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.\n", + " definition of HP:0010639 (Elevated alkaline phosphatase of bone origin)\n", + " \n", + " \n", + " #Elevated alkaline phosphatase of bone origin #Elevated ALP of bone origin #Increased serum bone-specific alkaline phosphatase\n", + " definition of HP:0010639 (Elevated alkaline phosphatase of bone origin)\n", + " \n", + " \n", + " Coccidioidal meningitis\n", + " definition of HP:0032161 (Coccidioidal meningitis)\n", + " \n", + " \n", + " A type of fungal meningitis caused by dissemination of coccidioides to basilar meninges.\n", + " definition of HP:0032161 (Coccidioidal meningitis)\n", + " \n", + " \n", + " Penile freckling\n", + " definition of HP:0031447 (Penile freckling)\n", + " \n", + " \n", + " Multiple pigmented macules located on the skin of the penis.\n", + " definition of HP:0031447 (Penile freckling)\n", + " \n", + " \n", + " Abnormal serum anion gap\n", + " definition of HP:0031961 (Abnormal serum anion gap)\n", + " \n", + " \n", + " Any deviation from the normal value of the serum anion gap, which is calculated from the electrolytes measured in the chemical laboratory, is defined as the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration.\n", + " definition of HP:0031961 (Abnormal serum anion gap)\n", + " \n", + " \n", + " Abnormal sacrum morphology\n", + " definition of HP:0005107 (Abnormal sacrum morphology)\n", + " \n", + " \n", + " An abnormality of the sacral bone.\n", + " definition of HP:0005107 (Abnormal sacrum morphology)\n", + " \n", + " \n", + " #Abnormality of the sacrum\n", + " definition of HP:0005107 (Abnormal sacrum morphology)\n", + " \n", + " \n", + " Abnormal urine hormone level\n", + " definition of HP:0012029 (Abnormal urine hormone level)\n", + " \n", + " \n", + " An abnormal concentration of a hormone in the urine.\n", + " definition of HP:0012029 (Abnormal urine hormone level)\n", + " \n", + " \n", + " #Abnormality of urine hormone level\n", + " definition of HP:0012029 (Abnormal urine hormone level)\n", + " \n", + " \n", + " Elevated CSF aspartylglucosamine concentration\n", + " definition of HP:0034735 (Elevated CSF aspartylglucosamine concentration)\n", + " \n", + " \n", + " Concentration of aspartylglucosamine in the cerebrospinal fluid (CSF) above the upper limit of normal.\n", + " definition of HP:0034735 (Elevated CSF aspartylglucosamine concentration)\n", + " \n", + " \n", + " #Aspartylglucosamine high in CSF\n", + " definition of HP:0034735 (Elevated CSF aspartylglucosamine concentration)\n", + " \n", + " \n", + " Thyroid defect in oxidation and organification of iodide\n", + " definition of HP:0008263 (Thyroid defect in oxidation and organification of iodide)\n", + " \n", + " \n", + " Sclerosis of the proximal phalanx of the 2nd finger\n", + " definition of HP:0100908 (Sclerosis of the proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Increased bone density in the innermost bone of the index finger\n", + " definition of HP:0100908 (Sclerosis of the proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Narrow femoral neck\n", + " definition of HP:0008819 (Narrow femoral neck)\n", + " \n", + " \n", + " An abnormally reduced diameter of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).\n", + " definition of HP:0008819 (Narrow femoral neck)\n", + " \n", + " \n", + " #Narrow neck of thigh bone\n", + " definition of HP:0008819 (Narrow femoral neck)\n", + " \n", + " \n", + " Stippled calcification of humeral metaphysis\n", + " definition of HP:0003924 (Stippled calcification of humeral metaphysis)\n", + " \n", + " \n", + " #Speckled calcification in metaphysis of long bone of upper arm\n", + " definition of HP:0003924 (Stippled calcification of humeral metaphysis)\n", + " \n", + " \n", + " Cerebral germinoma\n", + " definition of HP:0100312 (Cerebral germinoma)\n", + " \n", + " \n", + " The presence of a germ cell tumor of the cerebrum.\n", + " definition of HP:0100312 (Cerebral germinoma)\n", + " \n", + " \n", + " Diffuse alveolar hemorrhage\n", + " definition of HP:0025420 (Diffuse alveolar hemorrhage)\n", + " \n", + " \n", + " A type of of pulmonary hemorrhage that originates from the pulmonary microcirculation, including the alveolar capillaries, arterioles, and venules. It presents with hemoptysis, anemia, diffuse lung infiltration, and acute respiratory failure. The diagnosis is confirmed by the observation of the accumulation of red blood cells, fibrin, or hemosiderin-laden macrophage in the alveolar space on pathologic biopsy. Hemosiderin, a product of hemoglobin degradation, appears at least 48-72 hours after bleeding and is helpful in distinguishing diffuse alveolar hemorrhage from surgical trauma. Mild interstitial thickening, organizing pneumonia, or diffuse alveolar damage can also be seen.\n", + " definition of HP:0025420 (Diffuse alveolar hemorrhage)\n", + " \n", + " \n", + " #Diffuse alveolar haemorrhage\n", + " definition of HP:0025420 (Diffuse alveolar hemorrhage)\n", + " \n", + " \n", + " Small face\n", + " definition of HP:0000274 (Small face)\n", + " \n", + " \n", + " A face that is short and narrow.\n", + " definition of HP:0000274 (Small face)\n", + " \n", + " \n", + " #Facial hypoplasia #Hypoplasia of face #Microface #Microfacies #Short and narrow face #Small face #Small facies\n", + " definition of HP:0000274 (Small face)\n", + " \n", + " \n", + " Sensorimotor polyneuropathy affecting arms more than legs\n", + " definition of HP:0006865 (Sensorimotor polyneuropathy affecting arms more than legs)\n", + " \n", + " \n", + " Small epiphysis of the distal phalanx of the 2nd toe\n", + " definition of HP:0100108 (Small epiphysis of the distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Small end part of the outermost bone of the 2nd toe\n", + " definition of HP:0100108 (Small epiphysis of the distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Unilateral vertebral artery hypoplasia\n", + " definition of HP:0030323 (Unilateral vertebral artery hypoplasia)\n", + " \n", + " \n", + " Underdevelopment of the vertebral artery on one side.\n", + " definition of HP:0030323 (Unilateral vertebral artery hypoplasia)\n", + " \n", + " \n", + " Abnormality of the eye\n", + " definition of HP:0000478 (Abnormality of the eye)\n", + " \n", + " \n", + " Any abnormality of the eye, including location, spacing, and intraocular abnormalities.\n", + " definition of HP:0000478 (Abnormality of the eye)\n", + " \n", + " \n", + " #Abnormal eye #Abnormality of the eye\n", + " definition of HP:0000478 (Abnormality of the eye)\n", + " \n", + " \n", + " Small epiphyses of the 4th finger\n", + " definition of HP:0009401 (Small epiphyses of the 4th finger)\n", + " \n", + " \n", + " Abnormally small size of the epiphyses of the 4th finger with respect to age-dependent norms.\n", + " definition of HP:0009401 (Small epiphyses of the 4th finger)\n", + " \n", + " \n", + " #Small end part of ring finger bone\n", + " definition of HP:0009401 (Small epiphyses of the 4th finger)\n", + " \n", + " \n", + " Trichodysplasia\n", + " definition of HP:0002552 (Trichodysplasia)\n", + " \n", + " \n", + " Developmental dysplasia of the hair.\n", + " definition of HP:0002552 (Trichodysplasia)\n", + " \n", + " \n", + " Small epiphysis of the middle phalanx of the 4th toe\n", + " definition of HP:0100188 (Small epiphysis of the middle phalanx of the 4th toe)\n", + " \n", + " \n", + " #Small end part of middle long bone of 4th toe\n", + " definition of HP:0100188 (Small epiphysis of the middle phalanx of the 4th toe)\n", + " \n", + " \n", + " Abnormal heart valve morphology\n", + " definition of HP:0001654 (Abnormal heart valve morphology)\n", + " \n", + " \n", + " Any structural abnormality of a cardiac valve.\n", + " definition of HP:0001654 (Abnormal heart valve morphology)\n", + " \n", + " \n", + " #Abnormality of the heart valves #Valvular abnormality\n", + " definition of HP:0001654 (Abnormal heart valve morphology)\n", + " \n", + " \n", + " Abnormal amplitude of flash visual evoked potentials\n", + " definition of HP:0030462 (Abnormal amplitude of flash visual evoked potentials)\n", + " \n", + " \n", + " Retinal peau d'orange\n", + " definition of HP:0033027 (Retinal peau d'orange)\n", + " \n", + " \n", + " A pebbly orange appearance of the fundus that is said to resemble the skin of an orange.\n", + " definition of HP:0033027 (Retinal peau d'orange)\n", + " \n", + " \n", + " Short metatarsal\n", + " definition of HP:0010743 (Short metatarsal)\n", + " \n", + " \n", + " Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.\n", + " definition of HP:0010743 (Short metatarsal)\n", + " \n", + " \n", + " #Hypoplasia of the metatarsal bones #Hypoplastic metatarsals #Short long bone of foot #Short metatarsal bone #Short metatarsals #Shortened metatarsals\n", + " definition of HP:0010743 (Short metatarsal)\n", + " \n", + " \n", + " Ptosis\n", + " definition of HP:0000508 (Ptosis)\n", + " \n", + " \n", + " The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).\n", + " definition of HP:0000508 (Ptosis)\n", + " \n", + " \n", + " #Blepharoptosis #Drooping upper eyelid #Eyelid ptosis #Palpebral ptosis\n", + " definition of HP:0000508 (Ptosis)\n", + " \n", + " \n", + " Spinous keratoses of palms and soles\n", + " definition of HP:0007613 (Spinous keratoses of palms and soles)\n", + " \n", + " \n", + " Myotonia of the jaw\n", + " definition of HP:0012901 (Myotonia of the jaw)\n", + " \n", + " \n", + " Slowed relaxation of muscles in the jaw.\n", + " definition of HP:0012901 (Myotonia of the jaw)\n", + " \n", + " \n", + " Cervical spinal cord atrophy\n", + " definition of HP:0010873 (Cervical spinal cord atrophy)\n", + " \n", + " \n", + " Atrophy of the cervical segment of the spinal cord.\n", + " definition of HP:0010873 (Cervical spinal cord atrophy)\n", + " \n", + " \n", + " Jerky head movements\n", + " definition of HP:0006961 (Jerky head movements)\n", + " \n", + " \n", + " #Head jerking #Jerking head movements\n", + " definition of HP:0006961 (Jerky head movements)\n", + " \n", + " \n", + " Anti-Gephyrin antibody\n", + " definition of HP:5000012 (Anti-Gephyrin antibody)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Gephyrin.\n", + " definition of HP:5000012 (Anti-Gephyrin antibody)\n", + " \n", + " \n", + " Long thorax\n", + " definition of HP:0100818 (Long thorax)\n", + " \n", + " \n", + " Increased inferior to superior extent of the thorax.\n", + " definition of HP:0100818 (Long thorax)\n", + " \n", + " \n", + " #Long rib cage\n", + " definition of HP:0100818 (Long thorax)\n", + " \n", + " \n", + " Bullet-shaped proximal phalanx of the hallux\n", + " definition of HP:0010087 (Bullet-shaped proximal phalanx of the hallux)\n", + " \n", + " \n", + " An abnormal morphology of the proximal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.\n", + " definition of HP:0010087 (Bullet-shaped proximal phalanx of the hallux)\n", + " \n", + " \n", + " #Bullet-shaped innermost bone of the big toe\n", + " definition of HP:0010087 (Bullet-shaped proximal phalanx of the hallux)\n", + " \n", + " \n", + " Limited elbow extension and supination\n", + " definition of HP:0005852 (Limited elbow extension and supination)\n", + " \n", + " \n", + " Decreased circulating IgG subclass concentration\n", + " definition of HP:0032135 (Decreased circulating IgG subclass concentration)\n", + " \n", + " \n", + " A reduction below the normal concentration of a subclass of immunoglobulin G (IgG) in the blood.\n", + " definition of HP:0032135 (Decreased circulating IgG subclass concentration)\n", + " \n", + " \n", + " #Decreased circulating IgG subclass level #Decreased IgG subclass level in blood\n", + " definition of HP:0032135 (Decreased circulating IgG subclass concentration)\n", + " \n", + " \n", + " Thickened skin\n", + " definition of HP:0001072 (Thickened skin)\n", + " \n", + " \n", + " Laminar thickening of skin.\n", + " definition of HP:0001072 (Thickened skin)\n", + " \n", + " \n", + " #Pachydermia #Thick skin #Thickened skin\n", + " definition of HP:0001072 (Thickened skin)\n", + " \n", + " \n", + " Intraretinal exudate\n", + " definition of HP:0007989 (Intraretinal exudate)\n", + " \n", + " \n", + " Retinal exudate within the retinal tissue itself.\n", + " definition of HP:0007989 (Intraretinal exudate)\n", + " \n", + " \n", + " Type 1 and type 2 muscle fiber minicore regions\n", + " definition of HP:0003787 (Type 1 and type 2 muscle fiber minicore regions)\n", + " \n", + " \n", + " Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in type 1 and type 2 muscle fibers.\n", + " definition of HP:0003787 (Type 1 and type 2 muscle fiber minicore regions)\n", + " \n", + " \n", + " #Type 1 and type 2 muscle fibre minicore regions\n", + " definition of HP:0003787 (Type 1 and type 2 muscle fiber minicore regions)\n", + " \n", + " \n", + " Acral blistering\n", + " definition of HP:0031045 (Acral blistering)\n", + " \n", + " \n", + " Bullae (defined as fluid-filled blisters more than 5 mm in diameter with thin walls) of the skin with an acral distribution (affecting peripheral regions such as hands and feet).\n", + " definition of HP:0031045 (Acral blistering)\n", + " \n", + " \n", + " Ivory epiphysis of the proximal phalanx of the hallux\n", + " definition of HP:0010133 (Ivory epiphysis of the proximal phalanx of the hallux)\n", + " \n", + " \n", + " #Increased bone density of end part of the innermost bone of the big toe\n", + " definition of HP:0010133 (Ivory epiphysis of the proximal phalanx of the hallux)\n", + " \n", + " \n", + " Transitional-cell carcinoma of the ureter\n", + " definition of HP:0034512 (Transitional-cell carcinoma of the ureter)\n", + " \n", + " \n", + " A cancer of the ureter that most often arises in the distal third of the ureter and is often diagnosed during the sixth and seventh decades of life. The most common presentation is gross hematuria or flank pain.\n", + " definition of HP:0034512 (Transitional-cell carcinoma of the ureter)\n", + " \n", + " \n", + " Transient neutropenia\n", + " definition of HP:0410255 (Transient neutropenia)\n", + " \n", + " \n", + " A transient reduction in the number of neutrophils in the peripheral blood. Transient neutropenia is most commonly associated with viral infections, but other causes include drugs and autoimmunity.\n", + " definition of HP:0410255 (Transient neutropenia)\n", + " \n", + " \n", + " Nodular changes affecting the eyelids\n", + " definition of HP:0010732 (Nodular changes affecting the eyelids)\n", + " \n", + " \n", + " Nodular changes affecting the eyelids may have many different causes such as cystic lesions (chalaziae, hordeolae), lipogranulomas, melanomas, infectious diseases (Molluscum contagiosum) and many more.\n", + " definition of HP:0010732 (Nodular changes affecting the eyelids)\n", + " \n", + " \n", + " #Eyelid nodules\n", + " definition of HP:0010732 (Nodular changes affecting the eyelids)\n", + " \n", + " \n", + " Hamartomatous stomach polyps\n", + " definition of HP:0004795 (Hamartomatous stomach polyps)\n", + " \n", + " \n", + " Polyp-like protrusions which are histologically hamartomas located in the stomach.\n", + " definition of HP:0004795 (Hamartomatous stomach polyps)\n", + " \n", + " \n", + " Chronic tubulointerstitial nephritis\n", + " definition of HP:0004743 (Chronic tubulointerstitial nephritis)\n", + " \n", + " \n", + " Chronic inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.\n", + " definition of HP:0004743 (Chronic tubulointerstitial nephritis)\n", + " \n", + " \n", + " Exudative retinal detachment\n", + " definition of HP:0012231 (Exudative retinal detachment)\n", + " \n", + " \n", + " A type of retinal detachment arising from damage to the outer blood-retinal barrier that allows fluid to access the subretinal space and separate the neurosensory retina from the retinal pigment epithelium.\n", + " definition of HP:0012231 (Exudative retinal detachment)\n", + " \n", + " \n", + " #Serous retinal detachment\n", + " definition of HP:0012231 (Exudative retinal detachment)\n", + " \n", + " \n", + " Reduced muscle fiber alpha sarcoglycan\n", + " definition of HP:0030102 (Reduced muscle fiber alpha sarcoglycan)\n", + " \n", + " \n", + " A decreased amount of alpha sarcoglycan in muscle. Immunohistochemistry reveals reduced alpha sarcoglycan protein in the muscle biopsy.\n", + " definition of HP:0030102 (Reduced muscle fiber alpha sarcoglycan)\n", + " \n", + " \n", + " #Reduced muscle fibre alpha sarcoglycan\n", + " definition of HP:0030102 (Reduced muscle fiber alpha sarcoglycan)\n", + " \n", + " \n", + " Elevated CSF 5-hydroxyindoleacetic acid concentration\n", + " definition of HP:6000823 (Elevated CSF 5-hydroxyindoleacetic acid concentration)\n", + " \n", + " \n", + " The concentration of 5-hydroxyindoleacetic acid in the cerebrospinal fluid (CSF) is above the upper limit of normal.\n", + " definition of HP:6000823 (Elevated CSF 5-hydroxyindoleacetic acid concentration)\n", + " \n", + " \n", + " Encephalocele\n", + " definition of HP:0002084 (Encephalocele)\n", + " \n", + " \n", + " A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull.\n", + " definition of HP:0002084 (Encephalocele)\n", + " \n", + " \n", + " #Bifid skull #Cranium bifidum\n", + " definition of HP:0002084 (Encephalocele)\n", + " \n", + " \n", + " Absent isohemagglutinin level\n", + " definition of HP:0410293 (Absent isohemagglutinin level)\n", + " \n", + " \n", + " Absent or undetectable level of isohemagglutinin. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person).\n", + " definition of HP:0410293 (Absent isohemagglutinin level)\n", + " \n", + " \n", + " #Absent natural antibody to blood group agents #Complete or near-complete absence of isohemagglutinins\n", + " definition of HP:0410293 (Absent isohemagglutinin level)\n", + " \n", + " \n", + " Cuboid-shaped thoracolumbar vertebral bodies\n", + " definition of HP:0008425 (Cuboid-shaped thoracolumbar vertebral bodies)\n", + " \n", + " \n", + " Respiratory arrest\n", + " definition of HP:0005943 (Respiratory arrest)\n", + " \n", + " \n", + " #Breathing cessation\n", + " definition of HP:0005943 (Respiratory arrest)\n", + " \n", + " \n", + " Cone-shaped epiphyses of the 2nd toe\n", + " definition of HP:0100046 (Cone-shaped epiphyses of the 2nd toe)\n", + " \n", + " \n", + " #Cone-shaped end part of the 2nd toe bone\n", + " definition of HP:0100046 (Cone-shaped epiphyses of the 2nd toe)\n", + " \n", + " \n", + " Abnormality of the phalanges of the 2nd finger\n", + " definition of HP:0009541 (Abnormality of the phalanges of the 2nd finger)\n", + " \n", + " \n", + " Abnormality of the phalanges of the 2nd (index) finger.\n", + " definition of HP:0009541 (Abnormality of the phalanges of the 2nd finger)\n", + " \n", + " \n", + " #Abnormal index finger bones #Abnormality of 2nd finger phalanges\n", + " definition of HP:0009541 (Abnormality of the phalanges of the 2nd finger)\n", + " \n", + " \n", + " Mild global developmental delay\n", + " definition of HP:0011342 (Mild global developmental delay)\n", + " \n", + " \n", + " A mild delay in the achievement of motor or mental milestones in the domains of development of a child.\n", + " definition of HP:0011342 (Mild global developmental delay)\n", + " \n", + " \n", + " #Global developmental delay, mild\n", + " definition of HP:0011342 (Mild global developmental delay)\n", + " \n", + " \n", + " Fundic gland polyposis\n", + " definition of HP:0033769 (Fundic gland polyposis)\n", + " \n", + " \n", + " Multiple polyps in the acid-secreting mucosa of the gastric body and fundus. Fundic gland polyps (FGP) are usually 1 to 5 mm in size, though larger polyps have been found. FGPs are typically sessile, shiny, translucent, pale to pinkish in color (resembling the surrounding mucosa), and often exhibit tiny surface blood vessels. These polyps have characteristically been observed to chunk off or detach entirely at the base when removed with cold forceps, in contrast to other types of gastric polyps.\n", + " definition of HP:0033769 (Fundic gland polyposis)\n", + " \n", + " \n", + " #Fundic gland polyps #Gastric polyposis #Proximal polyposis of the stomach\n", + " definition of HP:0033769 (Fundic gland polyposis)\n", + " \n", + " \n", + " Abnormal hair pattern\n", + " definition of HP:0010720 (Abnormal hair pattern)\n", + " \n", + " \n", + " An abnormality of the distribution of hair growth.\n", + " definition of HP:0010720 (Abnormal hair pattern)\n", + " \n", + " \n", + " #Abnormal distribution of hair #Abnormal hair pattern\n", + " definition of HP:0010720 (Abnormal hair pattern)\n", + " \n", + " \n", + " Focal impaired awareness non-motor seizure\n", + " definition of HP:0032716 (Focal impaired awareness non-motor seizure)\n", + " \n", + " \n", + " A focal non-motor seizure characterized by impaired awareness at some point during the seizure.\n", + " definition of HP:0032716 (Focal impaired awareness non-motor seizure)\n", + " \n", + " \n", + " #Focal non-motor impaired awareness seizure\n", + " definition of HP:0032716 (Focal impaired awareness non-motor seizure)\n", + " \n", + " \n", + " Optic disc drusen\n", + " definition of HP:0012426 (Optic disc drusen)\n", + " \n", + " \n", + " Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve.\n", + " definition of HP:0012426 (Optic disc drusen)\n", + " \n", + " \n", + " #Optic nerve head drusen\n", + " definition of HP:0012426 (Optic disc drusen)\n", + " \n", + " \n", + " Peripheral retinal atrophy\n", + " definition of HP:0200070 (Peripheral retinal atrophy)\n", + " \n", + " \n", + " #Wasting of the outer part of the retina\n", + " definition of HP:0200070 (Peripheral retinal atrophy)\n", + " \n", + " \n", + " Abnormal circulating atrial natriuretic peptide pro-hormone concentration\n", + " definition of HP:6000692 (Abnormal circulating atrial natriuretic peptide pro-hormone concentration)\n", + " \n", + " \n", + " The concentration in the blood circulation of atrial natriuretic peptide pro-hormone or one of its processed fragments is outside of the range of normal.\n", + " definition of HP:6000692 (Abnormal circulating atrial natriuretic peptide pro-hormone concentration)\n", + " \n", + " \n", + " Aplasia/hypoplasia of the humerus\n", + " definition of HP:0006507 (Aplasia/hypoplasia of the humerus)\n", + " \n", + " \n", + " Absence (due to failure to form) or underdevelopment of the humerus.\n", + " definition of HP:0006507 (Aplasia/hypoplasia of the humerus)\n", + " \n", + " \n", + " #Absent/small long bone in upper arm #Absent/underdeveloped long bone in upper arm\n", + " definition of HP:0006507 (Aplasia/hypoplasia of the humerus)\n", + " \n", + " \n", + " Abnormality of the epiphysis of the proximal phalanx of the hallux\n", + " definition of HP:0010126 (Abnormality of the epiphysis of the proximal phalanx of the hallux)\n", + " \n", + " \n", + " In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities affecting the proximal phalanx of the hallux.\n", + " definition of HP:0010126 (Abnormality of the epiphysis of the proximal phalanx of the hallux)\n", + " \n", + " \n", + " #Abnormality of the end part of the innermost bone of the big toe\n", + " definition of HP:0010126 (Abnormality of the epiphysis of the proximal phalanx of the hallux)\n", + " \n", + " \n", + " Rounded middle phalanx of finger\n", + " definition of HP:0005844 (Rounded middle phalanx of finger)\n", + " \n", + " \n", + " An abnormally round shape of the middle phalanx of the finger.\n", + " definition of HP:0005844 (Rounded middle phalanx of finger)\n", + " \n", + " \n", + " #Rounded middle bone of finger\n", + " definition of HP:0005844 (Rounded middle phalanx of finger)\n", + " \n", + " \n", + " Six lumbar vertebrae\n", + " definition of HP:0008416 (Six lumbar vertebrae)\n", + " \n", + " \n", + " Anti-factor V antibody positivity\n", + " definition of HP:6000492 (Anti-factor V antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against factor V.\n", + " definition of HP:6000492 (Anti-factor V antibody positivity)\n", + " \n", + " \n", + " #Anti-FV antibody positivity\n", + " definition of HP:6000492 (Anti-factor V antibody positivity)\n", + " \n", + " \n", + " Cold paresis\n", + " definition of HP:0031372 (Cold paresis)\n", + " \n", + " \n", + " Increased muscle weakness upon exposure to cold temperatures.\n", + " definition of HP:0031372 (Cold paresis)\n", + " \n", + " \n", + " Autophagia\n", + " definition of HP:5200342 (Autophagia)\n", + " \n", + " \n", + " The habitual action of inflicting pain upon oneself by biting and/or devouring portions of one's body.\n", + " definition of HP:5200342 (Autophagia)\n", + " \n", + " \n", + " #Self-consumption\n", + " definition of HP:5200342 (Autophagia)\n", + " \n", + " \n", + " Absent epiphyses of the proximal phalanges of the hand\n", + " definition of HP:0010268 (Absent epiphyses of the proximal phalanges of the hand)\n", + " \n", + " \n", + " #Absent end part of the innermost hand bones\n", + " definition of HP:0010268 (Absent epiphyses of the proximal phalanges of the hand)\n", + " \n", + " \n", + " Limited neck flexion\n", + " definition of HP:0005991 (Limited neck flexion)\n", + " \n", + " \n", + " Reduced ability to lower the chin towards the chest by bending the neck.\n", + " definition of HP:0005991 (Limited neck flexion)\n", + " \n", + " \n", + " #Limited cervical flexion #Limited neck flexibility\n", + " definition of HP:0005991 (Limited neck flexion)\n", + " \n", + " \n", + " Abnormal glomerular filtration rate\n", + " definition of HP:0012212 (Abnormal glomerular filtration rate)\n", + " \n", + " \n", + " An abnormally increased or reduced amount of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.\n", + " definition of HP:0012212 (Abnormal glomerular filtration rate)\n", + " \n", + " \n", + " #Abnormal GFR\n", + " definition of HP:0012212 (Abnormal glomerular filtration rate)\n", + " \n", + " \n", + " Asthma\n", + " definition of HP:0002099 (Asthma)\n", + " \n", + " \n", + " Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.\n", + " definition of HP:0002099 (Asthma)\n", + " \n", + " \n", + " #Asthma #Bronchial asthma\n", + " definition of HP:0002099 (Asthma)\n", + " \n", + " \n", + " Decreased distal sensory nerve action potential\n", + " definition of HP:0007230 (Decreased distal sensory nerve action potential)\n", + " \n", + " \n", + " A reduction in the amplitude of sensory nerve action potential in distal nerve segments. This feature is measured by nerve conduction studies.\n", + " definition of HP:0007230 (Decreased distal sensory nerve action potential)\n", + " \n", + " \n", + " Triggered by hyperventilation\n", + " definition of HP:0025218 (Triggered by hyperventilation)\n", + " \n", + " \n", + " Applies to a sign or symptom that is provoked or brought about by excessively rapid and deep breathing.\n", + " definition of HP:0025218 (Triggered by hyperventilation)\n", + " \n", + " \n", + " #Hyperventilation triggered symptoms #Triggered by hyperventilation\n", + " definition of HP:0025218 (Triggered by hyperventilation)\n", + " \n", + " \n", + " Exencephaly\n", + " definition of HP:0030769 (Exencephaly)\n", + " \n", + " \n", + " A malformation of the neural tube with a large amount of protruding brain tissue and absence of calvarium.\n", + " definition of HP:0030769 (Exencephaly)\n", + " \n", + " \n", + " Cortical radial artery lumen cholesterol emboli\n", + " definition of HP:0033885 (Cortical radial artery lumen cholesterol emboli)\n", + " \n", + " \n", + " Needle-like or slit-like clefts within the interior space of cortical radial arteries (interlobular arteries) of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.\n", + " definition of HP:0033885 (Cortical radial artery lumen cholesterol emboli)\n", + " \n", + " \n", + " Elevated CSF ammonia concentration\n", + " definition of HP:6000394 (Elevated CSF ammonia concentration)\n", + " \n", + " \n", + " The concentration of amonia in the cerebrospinal fluid (CSF) is above the upper limit of normal.\n", + " definition of HP:6000394 (Elevated CSF ammonia concentration)\n", + " \n", + " \n", + " Impaired distal vibration sensation\n", + " definition of HP:0006886 (Impaired distal vibration sensation)\n", + " \n", + " \n", + " A decrease in the ability to perceive vibration in the distal portions of the limbs.\n", + " definition of HP:0006886 (Impaired distal vibration sensation)\n", + " \n", + " \n", + " #Decreased distal vibration sense\n", + " definition of HP:0006886 (Impaired distal vibration sensation)\n", + " \n", + " \n", + " Elongated mitochondria\n", + " definition of HP:0034692 (Elongated mitochondria)\n", + " \n", + " \n", + " Increase in length of mitochondria.\n", + " definition of HP:0034692 (Elongated mitochondria)\n", + " \n", + " \n", + " Tricyclic antidepressant exposure\n", + " definition of HP:4000180 (Tricyclic antidepressant exposure)\n", + " \n", + " \n", + " History of having been treated with a tricyclic antidepressant medication.\n", + " definition of HP:4000180 (Tricyclic antidepressant exposure)\n", + " \n", + " \n", + " #Tricyclic antidepressant use\n", + " definition of HP:4000180 (Tricyclic antidepressant exposure)\n", + " \n", + " \n", + " Pancreatic hypoplasia\n", + " definition of HP:0002594 (Pancreatic hypoplasia)\n", + " \n", + " \n", + " Hypoplasia of the pancreas.\n", + " definition of HP:0002594 (Pancreatic hypoplasia)\n", + " \n", + " \n", + " #Hypoplastic pancreas #Underdeveloped pancreas\n", + " definition of HP:0002594 (Pancreatic hypoplasia)\n", + " \n", + " \n", + " Darwin notch of helix\n", + " definition of HP:0011260 (Darwin notch of helix)\n", + " \n", + " \n", + " Small defect of the helical fold that lies at the junction of the superior and descending portions of the helix.\n", + " definition of HP:0011260 (Darwin notch of helix)\n", + " \n", + " \n", + " #Helix, Darwin notch\n", + " definition of HP:0011260 (Darwin notch of helix)\n", + " \n", + " \n", + " Ovarian fibrosis\n", + " definition of HP:0034571 (Ovarian fibrosis)\n", + " \n", + " \n", + " Excessive proliferation of fibroblasts and deposition of extracellular matrix within the ovary.\n", + " definition of HP:0034571 (Ovarian fibrosis)\n", + " \n", + " \n", + " Irregular epiphyses of the 3rd toe\n", + " definition of HP:0100060 (Irregular epiphyses of the 3rd toe)\n", + " \n", + " \n", + " #Irregular end part of the 3rd toe bone\n", + " definition of HP:0100060 (Irregular epiphyses of the 3rd toe)\n", + " \n", + " \n", + " Steroid-sensitive nephrotic syndrome with infrequent relapses\n", + " definition of HP:0025648 (Steroid-sensitive nephrotic syndrome with infrequent relapses)\n", + " \n", + " \n", + " A type of steroid-sensitive nephrotic syndrome in which relapses occur at a frequency of one relapse (albumin urine dipstick at least 3+ or proteinuria over 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) within 6 months of initial response, or one to three relapses in any 12-month period.\n", + " definition of HP:0025648 (Steroid-sensitive nephrotic syndrome with infrequent relapses)\n", + " \n", + " \n", + " Ankle flexion contracture\n", + " definition of HP:0006466 (Ankle flexion contracture)\n", + " \n", + " \n", + " Nevus comedonicus\n", + " definition of HP:0020154 (Nevus comedonicus)\n", + " \n", + " \n", + " A type of epidermal nevus characterized by closely arranged, dilated follicular openings with keratinous plugs resembling classical comedones.\n", + " definition of HP:0020154 (Nevus comedonicus)\n", + " \n", + " \n", + " Spinal cord calcifications\n", + " definition of HP:0034484 (Spinal cord calcifications)\n", + " \n", + " \n", + " The presence of calcium deposition in the spinal cord.\n", + " definition of HP:0034484 (Spinal cord calcifications)\n", + " \n", + " \n", + " Finger pain\n", + " definition of HP:0030837 (Finger pain)\n", + " \n", + " \n", + " An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the finger.\n", + " definition of HP:0030837 (Finger pain)\n", + " \n", + " \n", + " #Finger pain\n", + " definition of HP:0030837 (Finger pain)\n", + " \n", + " \n", + " Impaired renal tubular reabsorption of chloride\n", + " definition of HP:0005579 (Impaired renal tubular reabsorption of chloride)\n", + " \n", + " \n", + " Any impairment of reabsorption of chloride by the kidney.\n", + " definition of HP:0005579 (Impaired renal tubular reabsorption of chloride)\n", + " \n", + " \n", + " #Impaired reabsorption of Cl #Impaired reabsorption of Cl-\n", + " definition of HP:0005579 (Impaired renal tubular reabsorption of chloride)\n", + " \n", + " \n", + " Increased red blood cell mass\n", + " definition of HP:0001898 (Increased red blood cell mass)\n", + " \n", + " \n", + " The presence of an increased mass of red blood cells in the circulation.\n", + " definition of HP:0001898 (Increased red blood cell mass)\n", + " \n", + " \n", + " #Increased RBC mass\n", + " definition of HP:0001898 (Increased red blood cell mass)\n", + " \n", + " \n", + " Parkinsonism with favorable response to dopaminergic medication\n", + " definition of HP:0002548 (Parkinsonism with favorable response to dopaminergic medication)\n", + " \n", + " \n", + " Parkinsonism is a clinical syndrome that is a feature of a number of different diseases, including Parkinson disease itself, other neurodegenerative diseases such as progressive supranuclear palsy, and as a side-effect of some neuroleptic medications. Some but not all individuals with Parkinsonism show responsiveness to dopaminergic medication defined as a substantial reduction of amelioration of the component signs of Parkinsonism (including mainly tremor, bradykinesia, rigidity, and postural instability) upon administration of dopaminergic medication.\n", + " definition of HP:0002548 (Parkinsonism with favorable response to dopaminergic medication)\n", + " \n", + " \n", + " #Parkinsonism with favourable response to dopaminergic medication\n", + " definition of HP:0002548 (Parkinsonism with favorable response to dopaminergic medication)\n", + " \n", + " \n", + " Elevated MHC II surface expression\n", + " definition of HP:0031391 (Elevated MHC II surface expression)\n", + " \n", + " \n", + " An increase above the normal level of major histocompatibility complex class II molecules expressed at the cell surface.\n", + " definition of HP:0031391 (Elevated MHC II surface expression)\n", + " \n", + " \n", + " Increased anti-nut food product IgE antibody level\n", + " definition of HP:0410230 (Increased anti-nut food product IgE antibody level)\n", + " \n", + " \n", + " Increased level of IgE antibody against nut food products such as peanuts or tree nuts, such as hazelnuts, walnuts, cashews, and almonds.\n", + " definition of HP:0410230 (Increased anti-nut food product IgE antibody level)\n", + " \n", + " \n", + " Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis\n", + " definition of HP:0011653 (Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis)\n", + " \n", + " \n", + " A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, and also has a pulmonary stenosis; abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.\n", + " definition of HP:0011653 (Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis)\n", + " \n", + " \n", + " #DORV with non-committed VSD and pulmonary stenosis\n", + " definition of HP:0011653 (Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis)\n", + " \n", + " \n", + " Broad proximal phalanx of the 2nd finger\n", + " definition of HP:0009581 (Broad proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Increased width of the proximal phalanx of the 2nd finger.\n", + " definition of HP:0009581 (Broad proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Wide innermost bone of index finger #Wide/broad proximal index finger phalanx\n", + " definition of HP:0009581 (Broad proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Short sperm flagella\n", + " definition of HP:0032559 (Short sperm flagella)\n", + " \n", + " \n", + " Sperm cells with abnormally short flagella.\n", + " definition of HP:0032559 (Short sperm flagella)\n", + " \n", + " \n", + " Abnormal interlobular vein intima/media morphology\n", + " definition of HP:0033963 (Abnormal interlobular vein intima/media morphology)\n", + " \n", + " \n", + " Any structural anomaly of the inner or middle layer of the interlobular veins of the kidney.\n", + " definition of HP:0033963 (Abnormal interlobular vein intima/media morphology)\n", + " \n", + " \n", + " Triangular shaped phalanges of the 4th toe\n", + " definition of HP:0010378 (Triangular shaped phalanges of the 4th toe)\n", + " \n", + " \n", + " #Triangular shaped bones of 4th toe\n", + " definition of HP:0010378 (Triangular shaped phalanges of the 4th toe)\n", + " \n", + " \n", + " Cone-shaped epiphysis of the proximal phalanx of the 2nd toe\n", + " definition of HP:0100124 (Cone-shaped epiphysis of the proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Cone-shaped end part of the innermost bone of the 2nd toe\n", + " definition of HP:0100124 (Cone-shaped epiphysis of the proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " EEG with hyperventilation-induced focal epileptiform discharges\n", + " definition of HP:0011183 (EEG with hyperventilation-induced focal epileptiform discharges)\n", + " \n", + " \n", + " Focal epileptiform discharges induced by hyperventilation (overbreathing) in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).\n", + " definition of HP:0011183 (EEG with hyperventilation-induced focal epileptiform discharges)\n", + " \n", + " \n", + " Irregular epiphysis of the middle phalanx of the 5th toe\n", + " definition of HP:0100218 (Irregular epiphysis of the middle phalanx of the 5th toe)\n", + " \n", + " \n", + " #Irregular end part of the middle bone of the little toe #Irregular end part of the middle bone of the pinkie toe #Irregular end part of the middle bone of the pinky toe\n", + " definition of HP:0100218 (Irregular epiphysis of the middle phalanx of the 5th toe)\n", + " \n", + " \n", + " Omphalocele\n", + " definition of HP:0001539 (Omphalocele)\n", + " \n", + " \n", + " A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord.\n", + " definition of HP:0001539 (Omphalocele)\n", + " \n", + " \n", + " #Exomphalos #Omphalocoele\n", + " definition of HP:0001539 (Omphalocele)\n", + " \n", + " \n", + " Cervical spondylosis\n", + " definition of HP:0008480 (Cervical spondylosis)\n", + " \n", + " \n", + " Arthrosis, i.e., of degenerative joint disease, affecting the cervical vertebral column.\n", + " definition of HP:0008480 (Cervical spondylosis)\n", + " \n", + " \n", + " #Cervical osteoarthritis #Cervical spine degeneration #Neck arthritis\n", + " definition of HP:0008480 (Cervical spondylosis)\n", + " \n", + " \n", + " Migrating focal seizure\n", + " definition of HP:0032786 (Migrating focal seizure)\n", + " \n", + " \n", + " A migrating focal seizure is a seizure that involves different body parts, usually without overlap, in a consecutive manner so that the offset of a seizure in one part coincides with its onset in another, even shifting multiple times between the sides of the body. They can be associated with autonomic manifestations.\n", + " definition of HP:0032786 (Migrating focal seizure)\n", + " \n", + " \n", + " #Migrating partial seizure\n", + " definition of HP:0032786 (Migrating focal seizure)\n", + " \n", + " \n", + " Abnormal rectus muscle physiology\n", + " definition of HP:0031755 (Abnormal rectus muscle physiology)\n", + " \n", + " \n", + " A functional anomaly of a vertical or horizontal rectus muscle.\n", + " definition of HP:0031755 (Abnormal rectus muscle physiology)\n", + " \n", + " \n", + " Interlobular vein intima/media granulomatous venulitis\n", + " definition of HP:0033968 (Interlobular vein intima/media granulomatous venulitis)\n", + " \n", + " \n", + " A type of interlobular vein intima/media venulitis that is characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed veins.\n", + " definition of HP:0033968 (Interlobular vein intima/media granulomatous venulitis)\n", + " \n", + " \n", + " #Granulomatous venulitis within interlobular vein intima/media\n", + " definition of HP:0033968 (Interlobular vein intima/media granulomatous venulitis)\n", + " \n", + " \n", + " Prenatal death\n", + " definition of HP:0034241 (Prenatal death)\n", + " \n", + " \n", + " Death of a fetus in the uterus.\n", + " definition of HP:0034241 (Prenatal death)\n", + " \n", + " \n", + " #Death before birth #Intrauterine death\n", + " definition of HP:0034241 (Prenatal death)\n", + " \n", + " \n", + " Abnormal corpus cavernosum morphology\n", + " definition of HP:0100623 (Abnormal corpus cavernosum morphology)\n", + " \n", + " \n", + " A structural anomaly of the corpus cavernosum, the erectile tissue of the penis.\n", + " definition of HP:0100623 (Abnormal corpus cavernosum morphology)\n", + " \n", + " \n", + " #Abnormality of corpus cavernosum\n", + " definition of HP:0100623 (Abnormal corpus cavernosum morphology)\n", + " \n", + " \n", + " Combined hamartoma of the retinal pigment epithelium and retina\n", + " definition of HP:0030510 (Combined hamartoma of the retinal pigment epithelium and retina)\n", + " \n", + " \n", + " Tapered distal phalanges of finger\n", + " definition of HP:0009884 (Tapered distal phalanges of finger)\n", + " \n", + " \n", + " A reduction in diameter of the distal phalanx of finger towards the distal end.\n", + " definition of HP:0009884 (Tapered distal phalanges of finger)\n", + " \n", + " \n", + " #Tapered distal phalanges #Tapered distal phalanges of the hand #Tapered outermost finger bone\n", + " definition of HP:0009884 (Tapered distal phalanges of finger)\n", + " \n", + " \n", + " Reduced erythrocyte galactokinase activity\n", + " definition of HP:6000723 (Reduced erythrocyte galactokinase activity)\n", + " \n", + " \n", + " Activity or concentration of in the level of galactokinase (EC 2.7.1.6) in erythrocytes below the lower limit of normal.\n", + " definition of HP:6000723 (Reduced erythrocyte galactokinase activity)\n", + " \n", + " \n", + " Cyclin D1 expression\n", + " definition of HP:0430099 (Cyclin D1 expression)\n", + " \n", + " \n", + " Detection of the presence of cyclin D1 on the cell(s) of interest with the use of anti-cyclin D1 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry).\n", + " definition of HP:0430099 (Cyclin D1 expression)\n", + " \n", + " \n", + " Reduced insulin-like factor 3 level\n", + " definition of HP:0031037 (Reduced insulin-like factor 3 level)\n", + " \n", + " \n", + " Blood concentration of insulin-like factor 3 (ILF3) is below normal limits.\n", + " definition of HP:0031037 (Reduced insulin-like factor 3 level)\n", + " \n", + " \n", + " #Reduced plasma INSL3 level\n", + " definition of HP:0031037 (Reduced insulin-like factor 3 level)\n", + " \n", + " \n", + " Non-midline cleft of the upper lip\n", + " definition of HP:0100335 (Non-midline cleft of the upper lip)\n", + " \n", + " \n", + " Clefting (gap or groove) of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region.\n", + " definition of HP:0100335 (Non-midline cleft of the upper lip)\n", + " \n", + " \n", + " #Non-midline cleft of the upper lip #Paramedian cleft of the upper lip\n", + " definition of HP:0100335 (Non-midline cleft of the upper lip)\n", + " \n", + " \n", + " Reduced brain N-acetyl aspartate level by MRS\n", + " definition of HP:0012708 (Reduced brain N-acetyl aspartate level by MRS)\n", + " \n", + " \n", + " A decrease in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS).\n", + " definition of HP:0012708 (Reduced brain N-acetyl aspartate level by MRS)\n", + " \n", + " \n", + " #MR Spectroscopy: N-acetylaspartate low in brain #Reduced brain N-acetyl aspartate level by magnetic resonance spectroscopy\n", + " definition of HP:0012708 (Reduced brain N-acetyl aspartate level by MRS)\n", + " \n", + " \n", + " Abnormal prosody\n", + " definition of HP:0031434 (Abnormal prosody)\n", + " \n", + " \n", + " Prosody refers to the patterns of rhythm, stress, and intonation in spoken language. Abnormal prosody refers to abnormalities in the patterns of rhythm, stress, or intonation of speech or vocalization that can be heard by the observer. In general, this refers to overt and clear deviations in patterns from culturally accepted norms but many also include differences noted in comparison to the usual patterns of the individual (a quiet person suddenly becomes loud or vice versa).\n", + " definition of HP:0031434 (Abnormal prosody)\n", + " \n", + " \n", + " Nephrogenic diabetes insipidus\n", + " definition of HP:0009806 (Nephrogenic diabetes insipidus)\n", + " \n", + " \n", + " A form of diabetes insipidus caused by failure of the kidneys to respond to vasopressin (AVP).\n", + " definition of HP:0009806 (Nephrogenic diabetes insipidus)\n", + " \n", + " \n", + " Patchy sclerosis of the 1st metacarpal\n", + " definition of HP:0010031 (Patchy sclerosis of the 1st metacarpal)\n", + " \n", + " \n", + " Uneven increase in bone density within the 1st metacarpal.\n", + " definition of HP:0010031 (Patchy sclerosis of the 1st metacarpal)\n", + " \n", + " \n", + " #Uneven increase in bone density in 1st long bone of hand\n", + " definition of HP:0010031 (Patchy sclerosis of the 1st metacarpal)\n", + " \n", + " \n", + " Positive meconium methadone test\n", + " definition of HP:0410285 (Positive meconium methadone test)\n", + " \n", + " \n", + " Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in meconium.\n", + " definition of HP:0410285 (Positive meconium methadone test)\n", + " \n", + " \n", + " Everted lower lip vermilion\n", + " definition of HP:0000232 (Everted lower lip vermilion)\n", + " \n", + " \n", + " An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view.\n", + " definition of HP:0000232 (Everted lower lip vermilion)\n", + " \n", + " \n", + " #Drooping lower lip #Eclabium of lower lip #Everted lower lip #Everted prominent lower lip #Outward turned lower lip\n", + " definition of HP:0000232 (Everted lower lip vermilion)\n", + " \n", + " \n", + " Accumulation of muscle fiber desmin\n", + " definition of HP:0030225 (Accumulation of muscle fiber desmin)\n", + " \n", + " \n", + " Immunohistochemistry shows accumulation of desmin protein in the muscle biopsy.\n", + " definition of HP:0030225 (Accumulation of muscle fiber desmin)\n", + " \n", + " \n", + " #Accumulation of muscle fibre desmin #Muscle fiber desmin-reactive inclusion bodies #Muscle fibre desmin-reactive inclusion bodies\n", + " definition of HP:0030225 (Accumulation of muscle fiber desmin)\n", + " \n", + " \n", + " Peripheral dysmyelination\n", + " definition of HP:0003469 (Peripheral dysmyelination)\n", + " \n", + " \n", + " Defective structure and function of myelin sheaths. Dysmyelination is distinguished from demyleination where there is destruction or damage of previously normal myelination.\n", + " definition of HP:0003469 (Peripheral dysmyelination)\n", + " \n", + " \n", + " Increased immunoglobulin level in body fluid\n", + " definition of HP:0041077 (Increased immunoglobulin level in body fluid)\n", + " \n", + " \n", + " An elevation from normal levels of immunoglobulins in body fluids, such as mucous.\n", + " definition of HP:0041077 (Increased immunoglobulin level in body fluid)\n", + " \n", + " \n", + " Calcaneovalgus deformity\n", + " definition of HP:0001848 (Calcaneovalgus deformity)\n", + " \n", + " \n", + " This is a postural deformity in which the foot is positioned up against the tibia. The heel (calcaneus) is positioned downward (that is, the ankle is flexed upward), and the heel is turned outward (valgus).\n", + " definition of HP:0001848 (Calcaneovalgus deformity)\n", + " \n", + " \n", + " #Calcaneovalgus #Calcaneovalgus Foot #Valgus position of the calcaneus\n", + " definition of HP:0001848 (Calcaneovalgus deformity)\n", + " \n", + " \n", + " Auditory hypersensitivity\n", + " definition of HP:5200060 (Auditory hypersensitivity)\n", + " \n", + " \n", + " Hyperresponsive to sound that is abnormal in intensity and/or frequency.\n", + " definition of HP:5200060 (Auditory hypersensitivity)\n", + " \n", + " \n", + " #Loudness intolerance #Sensitivity to noise\n", + " definition of HP:5200060 (Auditory hypersensitivity)\n", + " \n", + " \n", + " Increased vertical cup-to-disc ratio - 0.9\n", + " definition of HP:0031977 (Increased vertical cup-to-disc ratio - 0.9)\n", + " \n", + " \n", + " Ratio of the height of the cup of the optic nerve head to the height of the disk is 0.9 (The normal cup-to-disc ratio is 0.3).\n", + " definition of HP:0031977 (Increased vertical cup-to-disc ratio - 0.9)\n", + " \n", + " \n", + " Parenchymal consolidation\n", + " definition of HP:0032177 (Parenchymal consolidation)\n", + " \n", + " \n", + " Consolidation refers to an exudate or other product of disease that replaces alveolar air, rendering the lung solid (as in infective pneumonia).\n", + " definition of HP:0032177 (Parenchymal consolidation)\n", + " \n", + " \n", + " Abnormal circulating interleukin concentration\n", + " definition of HP:0011117 (Abnormal circulating interleukin concentration)\n", + " \n", + " \n", + " The concentration of an interleukin (a class of cytokines) is outside the limits of normal.\n", + " definition of HP:0011117 (Abnormal circulating interleukin concentration)\n", + " \n", + " \n", + " #Abnormal serum IL level #Abnormal serum interleukin level #Abnormality of IL secretion #Abnormality of interleukin secretion\n", + " definition of HP:0011117 (Abnormal circulating interleukin concentration)\n", + " \n", + " \n", + " 2-4 finger cutaneous syndactyly\n", + " definition of HP:0010709 (2-4 finger cutaneous syndactyly)\n", + " \n", + " \n", + " A soft tissue continuity in the anteroposterior axis between the second (index) to the fourth (ring) finger that extends distally to at least the level of the proximal interphalangeal joints.\n", + " definition of HP:0010709 (2-4 finger cutaneous syndactyly)\n", + " \n", + " \n", + " #Syndactyly of second to fourth fingers #Webbed index through ring fingers\n", + " definition of HP:0010709 (2-4 finger cutaneous syndactyly)\n", + " \n", + " \n", + " Cystathioninuria\n", + " definition of HP:0003153 (Cystathioninuria)\n", + " \n", + " \n", + " An elevated urinary concentration of cystathionine.\n", + " definition of HP:0003153 (Cystathioninuria)\n", + " \n", + " \n", + " #High urine cystathionine levels\n", + " definition of HP:0003153 (Cystathioninuria)\n", + " \n", + " \n", + " Chronic hepatic encephalopathy\n", + " definition of HP:0007111 (Chronic hepatic encephalopathy)\n", + " \n", + " \n", + " Collarettes\n", + " definition of HP:6000421 (Collarettes)\n", + " \n", + " \n", + " Buildup of waxy flesh-colored scales on the margin of the eyelid.\n", + " definition of HP:6000421 (Collarettes)\n", + " \n", + " \n", + " Broad first metatarsal\n", + " definition of HP:0010068 (Broad first metatarsal)\n", + " \n", + " \n", + " Increased side-to-side width of the first metatarsal bone.\n", + " definition of HP:0010068 (Broad first metatarsal)\n", + " \n", + " \n", + " #Broad 1st metatarsal #Enlarged first metatarsal #Wide 1st long bone of foot\n", + " definition of HP:0010068 (Broad first metatarsal)\n", + " \n", + " \n", + " Intoeing\n", + " definition of HP:6001054 (Intoeing)\n", + " \n", + " \n", + " An abnormal gait caused by a rotational variation anywhere in the lower extremity that causes the foot to point inward, instead of pointing straight ahead or outward, when walking or running.\n", + " definition of HP:6001054 (Intoeing)\n", + " \n", + " \n", + " #Pigeon-toed\n", + " definition of HP:6001054 (Intoeing)\n", + " \n", + " \n", + " Delivery by Odon device\n", + " definition of HP:0030366 (Delivery by Odon device)\n", + " \n", + " \n", + " The Odon device is an instrument for assisted vaginal deliveries that is applied on the head of the baby and used to apply traction to assist the birth process.\n", + " definition of HP:0030366 (Delivery by Odon device)\n", + " \n", + " \n", + " Decreased sialylated N-glycan level\n", + " definition of HP:0410355 (Decreased sialylated N-glycan level)\n", + " \n", + " \n", + " An abnormal decrease in the concentration of sialylated N-glycans on glycoproteins.\n", + " definition of HP:0410355 (Decreased sialylated N-glycan level)\n", + " \n", + " \n", + " #Decreased concentration of sialylated N-glycans on glycoproteins\n", + " definition of HP:0410355 (Decreased sialylated N-glycan level)\n", + " \n", + " \n", + " Conjunctival subepithelial fibrosis\n", + " definition of HP:6001090 (Conjunctival subepithelial fibrosis)\n", + " \n", + " \n", + " fine white linear scars under intact conjunctival epithelium. This scarring appears in areas of previous conjunctival ulceration or pseudomembrane formation, weeks to months after the insult is healed.\n", + " definition of HP:6001090 (Conjunctival subepithelial fibrosis)\n", + " \n", + " \n", + " Increased level of platelet-activating factor\n", + " definition of HP:0040178 (Increased level of platelet-activating factor)\n", + " \n", + " \n", + " #Increased level of PAF\n", + " definition of HP:0040178 (Increased level of platelet-activating factor)\n", + " \n", + " \n", + " Gottron sign\n", + " definition of HP:0430033 (Gottron sign)\n", + " \n", + " \n", + " Erythematous macules or patches over extensor surfaces of elbows, knuckles, knees, and ankles.\n", + " definition of HP:0430033 (Gottron sign)\n", + " \n", + " \n", + " Amegakaryocytic thrombocytopenia\n", + " definition of HP:0004859 (Amegakaryocytic thrombocytopenia)\n", + " \n", + " \n", + " Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes.\n", + " definition of HP:0004859 (Amegakaryocytic thrombocytopenia)\n", + " \n", + " \n", + " Triangular shaped middle phalanx of the 4th finger\n", + " definition of HP:0009309 (Triangular shaped middle phalanx of the 4th finger)\n", + " \n", + " \n", + " Triangular shaped middle phalanx of the 4th (ring) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.\n", + " definition of HP:0009309 (Triangular shaped middle phalanx of the 4th finger)\n", + " \n", + " \n", + " #Triangular shaped middle bone of the ring finger\n", + " definition of HP:0009309 (Triangular shaped middle phalanx of the 4th finger)\n", + " \n", + " \n", + " Blebbing of apical cytoplasm of renal tubular epithelial cells\n", + " definition of HP:0032598 (Blebbing of apical cytoplasm of renal tubular epithelial cells)\n", + " \n", + " \n", + " Tubular cross section with round/irregular cytoplasmic protrusion, shaped like the Greek capital letter Omega (or it may be more vertically elongated Omega), pinched off from apical membrane without apparent closure of the lumen, involving over 50 percent of the tubular cells in cross section. The feature can be further classified into proximal or distal tubule.\n", + " definition of HP:0032598 (Blebbing of apical cytoplasm of renal tubular epithelial cells)\n", + " \n", + " \n", + " Triangular nuclear cataract\n", + " definition of HP:0010699 (Triangular nuclear cataract)\n", + " \n", + " \n", + " A nuclear cataract with a triangular form.\n", + " definition of HP:0010699 (Triangular nuclear cataract)\n", + " \n", + " \n", + " Duplication of the proximal phalanx of the 2nd toe\n", + " definition of HP:0010403 (Duplication of the proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Partial or complete duplication of proximal phalanx of second toe.\n", + " definition of HP:0010403 (Duplication of the proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Duplication of innermost 2nd toe bone #Duplication of the proximal phalanx of the second toe #Partial/complete duplication of the proximal phalanx of the 2nd toe\n", + " definition of HP:0010403 (Duplication of the proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Reduced CSF pyridoxal-5'-phosphate concentration\n", + " definition of HP:6000206 (Reduced CSF pyridoxal-5'-phosphate concentration)\n", + " \n", + " \n", + " The concentration of pyridoxal-5'-phosphate in the cerebrospinal fluid (CSF) is below the lower limit of normal.\n", + " definition of HP:6000206 (Reduced CSF pyridoxal-5'-phosphate concentration)\n", + " \n", + " \n", + " #Pyridoxal-5'-phosphate low in CSF\n", + " definition of HP:6000206 (Reduced CSF pyridoxal-5'-phosphate concentration)\n", + " \n", + " \n", + " Fetal intraventricular hemorrhage with periventricular hemorrhage\n", + " definition of HP:0034219 (Fetal intraventricular hemorrhage with periventricular hemorrhage)\n", + " \n", + " \n", + " A type of fetal intraventricular hemorrhage that additionally includes hemorrhage in a large part of the periventricular parenchyma.\n", + " definition of HP:0034219 (Fetal intraventricular hemorrhage with periventricular hemorrhage)\n", + " \n", + " \n", + " #Grade IV fetal intracranial hemorrhage #Grade IV foetal intracranial haemorrhage\n", + " definition of HP:0034219 (Fetal intraventricular hemorrhage with periventricular hemorrhage)\n", + " \n", + " \n", + " Renal interstitial deposits\n", + " definition of HP:0032644 (Renal interstitial deposits)\n", + " \n", + " \n", + " Abnormal accumulation of a metabolite, protein, or protein-derived substance in the interstitial region of the kidney.\n", + " definition of HP:0032644 (Renal interstitial deposits)\n", + " \n", + " \n", + " Age-related posterior subcapsular cataract\n", + " definition of HP:0011144 (Age-related posterior subcapsular cataract)\n", + " \n", + " \n", + " A type of age-related cataract consisting of granular opacities occurring mainly in the central posterior cortex just under the posterior capsule.\n", + " definition of HP:0011144 (Age-related posterior subcapsular cataract)\n", + " \n", + " \n", + " Adrenal hypoplasia\n", + " definition of HP:0000835 (Adrenal hypoplasia)\n", + " \n", + " \n", + " Developmental hypoplasia of the adrenal glands.\n", + " definition of HP:0000835 (Adrenal hypoplasia)\n", + " \n", + " \n", + " #Adrenal gland hypoplasia #Hypoplastic adrenal glands #Small adrenal glands #Underdeveloped adrenal glands\n", + " definition of HP:0000835 (Adrenal hypoplasia)\n", + " \n", + " \n", + " Abnormal pinhole visual acuity test\n", + " definition of HP:0030535 (Abnormal pinhole visual acuity test)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the fibula\n", + " definition of HP:0006492 (Aplasia/Hypoplasia of the fibula)\n", + " \n", + " \n", + " Absence or underdevelopment of the fibula.\n", + " definition of HP:0006492 (Aplasia/Hypoplasia of the fibula)\n", + " \n", + " \n", + " #Absent/small calf bone #Absent/underdeveloped calf bone #Fibular aplasia/hypoplasia #Hypoplastic/aplastic fibulae\n", + " definition of HP:0006492 (Aplasia/Hypoplasia of the fibula)\n", + " \n", + " \n", + " Enlarged vertebral pedicles\n", + " definition of HP:0004621 (Enlarged vertebral pedicles)\n", + " \n", + " \n", + " Increased size of the vertebral pedicle.\n", + " definition of HP:0004621 (Enlarged vertebral pedicles)\n", + " \n", + " \n", + " #Hyperplastic vertebral pedicles\n", + " definition of HP:0004621 (Enlarged vertebral pedicles)\n", + " \n", + " \n", + " Subcutaneous calcification\n", + " definition of HP:0007618 (Subcutaneous calcification)\n", + " \n", + " \n", + " Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument).\n", + " definition of HP:0007618 (Subcutaneous calcification)\n", + " \n", + " \n", + " #Skin calcification\n", + " definition of HP:0007618 (Subcutaneous calcification)\n", + " \n", + " \n", + " Pleural cobblestoning\n", + " definition of HP:0033344 (Pleural cobblestoning)\n", + " \n", + " \n", + " A pleural cobblestone appearance characterized by irregular bumps surrounded by depressed lines in open lung biopsy. Caused by underlying scarring causing retraction of the interlobular septa where they insert on the pleura.\n", + " definition of HP:0033344 (Pleural cobblestoning)\n", + " \n", + " \n", + " Hyperactive patellar reflex\n", + " definition of HP:0007083 (Hyperactive patellar reflex)\n", + " \n", + " \n", + " #Hyperreflexia in knees #Overactive knee reflex\n", + " definition of HP:0007083 (Hyperactive patellar reflex)\n", + " \n", + " \n", + " Echophenomenon\n", + " definition of HP:6000768 (Echophenomenon)\n", + " \n", + " \n", + " A stimulus triggered repetition of an action (echopraxia) or sound (echolalia) performed without the explicit awareness of an individual.\n", + " definition of HP:6000768 (Echophenomenon)\n", + " \n", + " \n", + " Anti-HLA-B antibody positivity\n", + " definition of HP:0034022 (Anti-HLA-B antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against a human leukocyte antigen-B (HLA-B).\n", + " definition of HP:0034022 (Anti-HLA-B antibody positivity)\n", + " \n", + " \n", + " Sensory exotropia\n", + " definition of HP:0031721 (Sensory exotropia)\n", + " \n", + " \n", + " A type of divergent strabismus (exotropia) that develops in a poorly seeing eye.\n", + " definition of HP:0031721 (Sensory exotropia)\n", + " \n", + " \n", + " #Secondary exotropia\n", + " definition of HP:0031721 (Sensory exotropia)\n", + " \n", + " \n", + " Osteolytic defects of the distal phalanx of the 5th toe\n", + " definition of HP:0100460 (Osteolytic defects of the distal phalanx of the 5th toe)\n", + " \n", + " \n", + " #Osteolytic defects of the outermost bone of the 5th toe\n", + " definition of HP:0100460 (Osteolytic defects of the distal phalanx of the 5th toe)\n", + " \n", + " \n", + " Cystic hygroma\n", + " definition of HP:0000476 (Cystic hygroma)\n", + " \n", + " \n", + " A cystic lymphatic lesion of the neck.\n", + " definition of HP:0000476 (Cystic hygroma)\n", + " \n", + " \n", + " #Cystic hygroma of the neck\n", + " definition of HP:0000476 (Cystic hygroma)\n", + " \n", + " \n", + " Abnormal gastrointestinal vascular morphology\n", + " definition of HP:0004296 (Abnormal gastrointestinal vascular morphology)\n", + " \n", + " \n", + " #Abnormality of gastrointestinal vasculature #Abnormality of GI blood vessels #Abnormality of GI vasculature\n", + " definition of HP:0004296 (Abnormal gastrointestinal vascular morphology)\n", + " \n", + " \n", + " Muscle fiber polyglucosan inclusion bodies\n", + " definition of HP:0034766 (Muscle fiber polyglucosan inclusion bodies)\n", + " \n", + " \n", + " Accumulation of a poorly branched and poorly spherical amylopectin-like glycogen (polyglucosan) in muscle fibers.\n", + " definition of HP:0034766 (Muscle fiber polyglucosan inclusion bodies)\n", + " \n", + " \n", + " #Muscle biopsy: polyglucosan accumulation\n", + " definition of HP:0034766 (Muscle fiber polyglucosan inclusion bodies)\n", + " \n", + " \n", + " Acute necrotizing encephalopathy\n", + " definition of HP:0006965 (Acute necrotizing encephalopathy)\n", + " \n", + " \n", + " Monocytosis\n", + " definition of HP:0012311 (Monocytosis)\n", + " \n", + " \n", + " An increased number of circulating monocytes.\n", + " definition of HP:0012311 (Monocytosis)\n", + " \n", + " \n", + " #High blood monocyte number\n", + " definition of HP:0012311 (Monocytosis)\n", + " \n", + " \n", + " Cleavage at junction of stratum corneum and stratum granulosum\n", + " definition of HP:0034838 (Cleavage at junction of stratum corneum and stratum granulosum)\n", + " \n", + " \n", + " Splitting of the skin (cell-cell adhesion of keratinocytes) localized to the interface between the stratum corneum and stratum granulosum layers of the epidermis.\n", + " definition of HP:0034838 (Cleavage at junction of stratum corneum and stratum granulosum)\n", + " \n", + " \n", + " Multiple gastric polyps\n", + " definition of HP:0004394 (Multiple gastric polyps)\n", + " \n", + " \n", + " Aplasia/hypoplasia of the proximal phalanx of the 3rd toe\n", + " definition of HP:0100375 (Aplasia/hypoplasia of the proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Absence (agenesis) or underdevelopment of the proximal phalanx of the 3rd toe.\n", + " definition of HP:0100375 (Aplasia/hypoplasia of the proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Absent/small innermost bone of 3rd toe #Absent/underdeveloped innermost bone of 3rd toe\n", + " definition of HP:0100375 (Aplasia/hypoplasia of the proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Vaginal myxoma\n", + " definition of HP:0034942 (Vaginal myxoma)\n", + " \n", + " \n", + " A myxoma (tumor of primitive connective tissue) localized in the vagina.\n", + " definition of HP:0034942 (Vaginal myxoma)\n", + " \n", + " \n", + " Hyperammonemia\n", + " definition of HP:0001987 (Hyperammonemia)\n", + " \n", + " \n", + " An increased concentration of ammonia in the blood.\n", + " definition of HP:0001987 (Hyperammonemia)\n", + " \n", + " \n", + " #High blood ammonia levels\n", + " definition of HP:0001987 (Hyperammonemia)\n", + " \n", + " \n", + " Lymphocytoma cutis\n", + " definition of HP:0031549 (Lymphocytoma cutis)\n", + " \n", + " \n", + " Lymphocytoma cutis, or Spiegler-Fendt sarcoid, is classed as one of the pseudolymphomas, referring to inflammatory disorders in which the accumulation of lymphocytes on the skin resemble, clinically and histopathologically, cutaneous lymphomas. Careful clinical evaluation, histopathological and immunohistochemical exams may be needed to make the correct diagnosis.\n", + " definition of HP:0031549 (Lymphocytoma cutis)\n", + " \n", + " \n", + " #Skin pseudolymphoma #Spiegler-Fendt sarcoid\n", + " definition of HP:0031549 (Lymphocytoma cutis)\n", + " \n", + " \n", + " Decreased muscle glycogen content\n", + " definition of HP:0012270 (Decreased muscle glycogen content)\n", + " \n", + " \n", + " A decreased amount of glycogen in muscle tissue.\n", + " definition of HP:0012270 (Decreased muscle glycogen content)\n", + " \n", + " \n", + " Abnormal cystatin C level\n", + " definition of HP:0032996 (Abnormal cystatin C level)\n", + " \n", + " \n", + " Any deviation from the normal concentration of cystatin C in serum or plasma.\n", + " definition of HP:0032996 (Abnormal cystatin C level)\n", + " \n", + " \n", + " Increased urinary thiosulfate\n", + " definition of HP:0011943 (Increased urinary thiosulfate)\n", + " \n", + " \n", + " Increased concentration of thiosulfate(2-) in the urine.\n", + " definition of HP:0011943 (Increased urinary thiosulfate)\n", + " \n", + " \n", + " Hypoplastic scapulae\n", + " definition of HP:0000882 (Hypoplastic scapulae)\n", + " \n", + " \n", + " Underdeveloped scapula.\n", + " definition of HP:0000882 (Hypoplastic scapulae)\n", + " \n", + " \n", + " #Hypoplastic scapula #Scapular hypoplasia #Short scapulae #Small scapula #Small scapulae #Small shoulder blade\n", + " definition of HP:0000882 (Hypoplastic scapulae)\n", + " \n", + " \n", + " Unilateral vestibular schwannoma\n", + " definition of HP:0009590 (Unilateral vestibular schwannoma)\n", + " \n", + " \n", + " A unilateral vestibular schwannoma (acoustic neurinoma).\n", + " definition of HP:0009590 (Unilateral vestibular schwannoma)\n", + " \n", + " \n", + " Abnormal shoulder morphology\n", + " definition of HP:0003043 (Abnormal shoulder morphology)\n", + " \n", + " \n", + " An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula.\n", + " definition of HP:0003043 (Abnormal shoulder morphology)\n", + " \n", + " \n", + " #Abnormality of the shoulder\n", + " definition of HP:0003043 (Abnormal shoulder morphology)\n", + " \n", + " \n", + " Organizing pneumonia\n", + " definition of HP:0033670 (Organizing pneumonia)\n", + " \n", + " \n", + " Organizing pneumonia manifests as a histologic pattern characterized by loose plugs of connective tissue in the airspaces and distal airways. Interstitial inflammation and fibrosis are minimal or absent. Cryptogenic organizing pneumonia, or COP, is a distinctive clinical disorder among the idiopathic interstitial pneumonias, but the histologic pattern of organizing pneumonia is encountered in many different situations, including pulmonary infection, hypersensitivity pneumonitis, and collagen vascular diseases. Airspace consolidation is the cardinal feature of organizing pneumonia on chest radiographs and CT scans. In COP, the distribution is typically subpleural and basal and sometimes bronchocentric. Other manifestations of organizing pneumonia include groundglass opacity, tree-in-bud pattern, and nodular opacities.\n", + " definition of HP:0033670 (Organizing pneumonia)\n", + " \n", + " \n", + " Atrial standstill\n", + " definition of HP:0025478 (Atrial standstill)\n", + " \n", + " \n", + " Atrial standstill or silent atrium is a rare condition presenting with the absence of electrical and mechanical activity in the atria. It presents with the absence of P waves, bradycardia, and wide QRS complex in the electrocardiogram.\n", + " definition of HP:0025478 (Atrial standstill)\n", + " \n", + " \n", + " #Silent atrium\n", + " definition of HP:0025478 (Atrial standstill)\n", + " \n", + " \n", + " Type 1 congenital pulmonary airway malformation\n", + " definition of HP:0025725 (Type 1 congenital pulmonary airway malformation)\n", + " \n", + " \n", + " A type of congenital pulmonary airway malformation that is characterized by multiple large cysts or a single dominant cyst.\n", + " definition of HP:0025725 (Type 1 congenital pulmonary airway malformation)\n", + " \n", + " \n", + " Abnormal circulating nitrogen compound concentration\n", + " definition of HP:0004364 (Abnormal circulating nitrogen compound concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of a nitrogen compound in the blood circulation.\n", + " definition of HP:0004364 (Abnormal circulating nitrogen compound concentration)\n", + " \n", + " \n", + " Anti-GW182 antibody positivity\n", + " definition of HP:0034109 (Anti-GW182 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against GW182.\n", + " definition of HP:0034109 (Anti-GW182 antibody positivity)\n", + " \n", + " \n", + " 2-3 toe syndactyly\n", + " definition of HP:0004691 (2-3 toe syndactyly)\n", + " \n", + " \n", + " Syndactyly with fusion of toes two and three.\n", + " definition of HP:0004691 (2-3 toe syndactyly)\n", + " \n", + " \n", + " #2-3 syndactyly of feet #2-3 toe soft tissue syndactyly #2-3 toes syndactyly #partial or complete syndactyly 2nd-3rd toes #Syndactyly of second and third toes #Toe syndactyly, 2-3 #Webbed 2nd and 3rd toes\n", + " definition of HP:0004691 (2-3 toe syndactyly)\n", + " \n", + " \n", + " Pes planus\n", + " definition of HP:0001763 (Pes planus)\n", + " \n", + " \n", + " A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.\n", + " definition of HP:0001763 (Pes planus)\n", + " \n", + " \n", + " #Flat feet #Flat foot\n", + " definition of HP:0001763 (Pes planus)\n", + " \n", + " \n", + " Proprioceptive-induced seizure\n", + " definition of HP:0020211 (Proprioceptive-induced seizure)\n", + " \n", + " \n", + " A seizure precipitated by movement or a change in posture.\n", + " definition of HP:0020211 (Proprioceptive-induced seizure)\n", + " \n", + " \n", + " Triangular shaped phalanges of the 3rd toe\n", + " definition of HP:0010366 (Triangular shaped phalanges of the 3rd toe)\n", + " \n", + " \n", + " #Triangular shaped 3rd toe bones\n", + " definition of HP:0010366 (Triangular shaped phalanges of the 3rd toe)\n", + " \n", + " \n", + " Narrow nasal septum\n", + " definition of HP:0009936 (Narrow nasal septum)\n", + " \n", + " \n", + " Abnormally narrow nasal septum.\n", + " definition of HP:0009936 (Narrow nasal septum)\n", + " \n", + " \n", + " #Decreased width of nasal septum #Narrow nasal septum #Narrow septum of nose #Thin nasal septum #Thin septum of nose\n", + " definition of HP:0009936 (Narrow nasal septum)\n", + " \n", + " \n", + " Pseudoepiphysis of the proximal phalanx of the 2nd finger\n", + " definition of HP:0009531 (Pseudoepiphysis of the proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " A secondary ossification center in the proximal phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.\n", + " definition of HP:0009531 (Pseudoepiphysis of the proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Increased laxity of fingers\n", + " definition of HP:0006149 (Increased laxity of fingers)\n", + " \n", + " \n", + " Small epiphysis of the proximal phalanx of the 3rd finger\n", + " definition of HP:0009354 (Small epiphysis of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms.\n", + " definition of HP:0009354 (Small epiphysis of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Small end part of innermost long bone of the middle finger\n", + " definition of HP:0009354 (Small epiphysis of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Impaired cerebroside sulfate hydrolysis\n", + " definition of HP:0034687 (Impaired cerebroside sulfate hydrolysis)\n", + " \n", + " \n", + " Reduced hydrolysis (splitting of a bond and the addition of the hydrogen anion of water) of the sulfuric ester linkage in the molecule of cerebroside sulfate, possibly leading to accumuation of cerebroside sulfate.\n", + " definition of HP:0034687 (Impaired cerebroside sulfate hydrolysis)\n", + " \n", + " \n", + " Vertigo\n", + " definition of HP:0002321 (Vertigo)\n", + " \n", + " \n", + " An abnormal sensation of spinning while the body is actually stationary.\n", + " definition of HP:0002321 (Vertigo)\n", + " \n", + " \n", + " #Dizzy spell\n", + " definition of HP:0002321 (Vertigo)\n", + " \n", + " \n", + " Hypokinesia\n", + " definition of HP:0002375 (Hypokinesia)\n", + " \n", + " \n", + " Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency.\n", + " definition of HP:0002375 (Hypokinesia)\n", + " \n", + " \n", + " #Decreased muscle movement #Decreased spontaneous movement #Decreased spontaneous movements\n", + " definition of HP:0002375 (Hypokinesia)\n", + " \n", + " \n", + " Absent epiphysis of the middle phalanx of the 4th finger\n", + " definition of HP:0009214 (Absent epiphysis of the middle phalanx of the 4th finger)\n", + " \n", + " \n", + " Absence of the epiphysis located at the proximal end of the middle phalanx of the 4th finger.\n", + " definition of HP:0009214 (Absent epiphysis of the middle phalanx of the 4th finger)\n", + " \n", + " \n", + " #Absent end part of the middle bone of the ring finger\n", + " definition of HP:0009214 (Absent epiphysis of the middle phalanx of the 4th finger)\n", + " \n", + " \n", + " Hypothalamic hypometabolism in FDG PET\n", + " definition of HP:0012661 (Hypothalamic hypometabolism in FDG PET)\n", + " \n", + " \n", + " Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the hypothalamus as measured by positron emission tomography (PET) brain scan.\n", + " definition of HP:0012661 (Hypothalamic hypometabolism in FDG PET)\n", + " \n", + " \n", + " Addictive methamphetamine use\n", + " definition of HP:0033519 (Addictive methamphetamine use)\n", + " \n", + " \n", + " Addiction to methamphetamine.\n", + " definition of HP:0033519 (Addictive methamphetamine use)\n", + " \n", + " \n", + " #Methamphetamine addiction #Methamphetamine dependence\n", + " definition of HP:0033519 (Addictive methamphetamine use)\n", + " \n", + " \n", + " Birth history\n", + " definition of HP:0033623 (Birth history)\n", + " \n", + " \n", + " Information about the delivery and health status at birth typically elicited as a part of the past medical history.\n", + " definition of HP:0033623 (Birth history)\n", + " \n", + " \n", + " Enlarged joints\n", + " definition of HP:0003037 (Enlarged joints)\n", + " \n", + " \n", + " Increase in size of one or more joints.\n", + " definition of HP:0003037 (Enlarged joints)\n", + " \n", + " \n", + " #Enlarged joints\n", + " definition of HP:0003037 (Enlarged joints)\n", + " \n", + " \n", + " Post-vaccination yellow fever\n", + " definition of HP:0034310 (Post-vaccination yellow fever)\n", + " \n", + " \n", + " Infection with the yellow fever virus of the live-attenuated vaccine.\n", + " definition of HP:0034310 (Post-vaccination yellow fever)\n", + " \n", + " \n", + " #Postvaccination yellow fever\n", + " definition of HP:0034310 (Post-vaccination yellow fever)\n", + " \n", + " \n", + " Acute colitis\n", + " definition of HP:0100282 (Acute colitis)\n", + " \n", + " \n", + " An acute and self-limited inflammatory disease of the large intestine (colon, cecum and rectum).\n", + " definition of HP:0100282 (Acute colitis)\n", + " \n", + " \n", + " Atrophic vaginal mucosa\n", + " definition of HP:0040413 (Atrophic vaginal mucosa)\n", + " \n", + " \n", + " Bracket epiphysis of the middle phalanx of the 3rd finger\n", + " definition of HP:0009322 (Bracket epiphysis of the middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " An abnormality of the middle phalanx of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.\n", + " definition of HP:0009322 (Bracket epiphysis of the middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Bracket shaped end part of the middle bone of the middle finger\n", + " definition of HP:0009322 (Bracket epiphysis of the middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " Severe SARS-CoV-2 infection\n", + " definition of HP:0033141 (Severe SARS-CoV-2 infection)\n", + " \n", + " \n", + " Unusually severe clinical course of SARS-CoV-2 infection, manifested clinically by features such as dyspnea and hypoxia with diffuse bilateral ground-glass opacities of the lungs on computed tomographic scan with progressive respiratory insufficiency necessitating oxygen supplementation or mechanical ventilation.\n", + " definition of HP:0033141 (Severe SARS-CoV-2 infection)\n", + " \n", + " \n", + " Common carotid artery dissection\n", + " definition of HP:0012162 (Common carotid artery dissection)\n", + " \n", + " \n", + " A separation (dissection) of the layers of the common carotid artery wall.\n", + " definition of HP:0012162 (Common carotid artery dissection)\n", + " \n", + " \n", + " Aplasia/Hypoplasia involving the skeletal musculature\n", + " definition of HP:0001460 (Aplasia/Hypoplasia involving the skeletal musculature)\n", + " \n", + " \n", + " Absence or underdevelopment of the musculature.\n", + " definition of HP:0001460 (Aplasia/Hypoplasia involving the skeletal musculature)\n", + " \n", + " \n", + " #Absent/small skeletal muscles #Absent/underdeveloped skeletal muscles\n", + " definition of HP:0001460 (Aplasia/Hypoplasia involving the skeletal musculature)\n", + " \n", + " \n", + " Esophoria\n", + " definition of HP:0025312 (Esophoria)\n", + " \n", + " \n", + " A form of strabismus with both eyes turned inward to a relatively mild degree, usually defined as less than 10 prism diopters.\n", + " definition of HP:0025312 (Esophoria)\n", + " \n", + " \n", + " Increased subcutaneous truncal adipose tissue\n", + " definition of HP:0009003 (Increased subcutaneous truncal adipose tissue)\n", + " \n", + " \n", + " The presence of an abnormally increased amount of subcutaneous adipose tissue in the trunk of the body.\n", + " definition of HP:0009003 (Increased subcutaneous truncal adipose tissue)\n", + " \n", + " \n", + " #Increased fat below the skin in trunk\n", + " definition of HP:0009003 (Increased subcutaneous truncal adipose tissue)\n", + " \n", + " \n", + " Duplication of the distal phalanx of hand\n", + " definition of HP:0009883 (Duplication of the distal phalanx of hand)\n", + " \n", + " \n", + " This term applies if one or more of the distal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.\n", + " definition of HP:0009883 (Duplication of the distal phalanx of hand)\n", + " \n", + " \n", + " #Bifid terminal phalanges #Duplication of the outermost bone of hand #Notched outermost bone of hand #Partial/complete duplication of the distal phalanges of the hand\n", + " definition of HP:0009883 (Duplication of the distal phalanx of hand)\n", + " \n", + " \n", + " Orthodeoxia\n", + " definition of HP:0033367 (Orthodeoxia)\n", + " \n", + " \n", + " Low level of blood oxygen induced by changing from a recumbent to an upright position.\n", + " definition of HP:0033367 (Orthodeoxia)\n", + " \n", + " \n", + " Thyroid microfollicular adenoma\n", + " definition of HP:0011776 (Thyroid microfollicular adenoma)\n", + " \n", + " \n", + " Tombstone-shaped proximal phalanges\n", + " definition of HP:0006060 (Tombstone-shaped proximal phalanges)\n", + " \n", + " \n", + " #Tombstone-shaped innermost digital bones\n", + " definition of HP:0006060 (Tombstone-shaped proximal phalanges)\n", + " \n", + " \n", + " Decreased proportion of CD4-positive T cells\n", + " definition of HP:0032218 (Decreased proportion of CD4-positive T cells)\n", + " \n", + " \n", + " A reduction in the proportion of CD4-positive T cells relative to the total number of T cells.\n", + " definition of HP:0032218 (Decreased proportion of CD4-positive T cells)\n", + " \n", + " \n", + " #Decreased proportion of CD4+ cells #Decreased proportion of CD4-positive, alpha-beta T cells #Reduced proportion of CD4-positive cells\n", + " definition of HP:0032218 (Decreased proportion of CD4-positive T cells)\n", + " \n", + " \n", + " Placental mesenchymal dysplasia\n", + " definition of HP:0032165 (Placental mesenchymal dysplasia)\n", + " \n", + " \n", + " Placental mesenchymal dysplasia is a rare anomaly characterized by placentomegaly, dilatation of chorionic vessels and hydropic stem villi with cistern-like formation. It is often clinically mistaken for a partial hydatidiform mole but there is no trophoblastic proliferation. P57 immunohistochemical expression is discordant, showing a normal positive expression in the cytotrophoblastic cells, and loss of expression in the stromal cells.\n", + " definition of HP:0032165 (Placental mesenchymal dysplasia)\n", + " \n", + " \n", + " Upper limb postural tremor\n", + " definition of HP:0007351 (Upper limb postural tremor)\n", + " \n", + " \n", + " A type of tremors that is triggered by holding an arm in a fixed position.\n", + " definition of HP:0007351 (Upper limb postural tremor)\n", + " \n", + " \n", + " #Postural tremor of arms\n", + " definition of HP:0007351 (Upper limb postural tremor)\n", + " \n", + " \n", + " Inflexible adherence to routines\n", + " definition of HP:0000732 (Inflexible adherence to routines)\n", + " \n", + " \n", + " A need to strictly adhere to repetitive routines or patterns of behavior which are created by the environment. One becomes upset or distressed when their routines are disrupted or altered.\n", + " definition of HP:0000732 (Inflexible adherence to routines)\n", + " \n", + " \n", + " Abnormal gastrointestinal motility\n", + " definition of HP:0030895 (Abnormal gastrointestinal motility)\n", + " \n", + " \n", + " An anomaly of the muscular contractions that propel food though the gastrointestinal tract.\n", + " definition of HP:0030895 (Abnormal gastrointestinal motility)\n", + " \n", + " \n", + " #Abnormal GI motility\n", + " definition of HP:0030895 (Abnormal gastrointestinal motility)\n", + " \n", + " \n", + " Thickened elastic fibers in the dermis\n", + " definition of HP:0025166 (Thickened elastic fibers in the dermis)\n", + " \n", + " \n", + " An increase of the diameter of elastic fibers in the dermis.\n", + " definition of HP:0025166 (Thickened elastic fibers in the dermis)\n", + " \n", + " \n", + " #Thickened elastic fibres in the dermis\n", + " definition of HP:0025166 (Thickened elastic fibers in the dermis)\n", + " \n", + " \n", + " Trichorrhexis nodosa\n", + " definition of HP:0009886 (Trichorrhexis nodosa)\n", + " \n", + " \n", + " Trichorrhexis nodosa is the formation of nodes along the hair shaft through which breakage readily occurs. It is thus a focal defect in the hair fiber that is characterized by thickening or weak points (nodes) that cause the hair to break off easily. The result is defective, abnormally fragile hair.\n", + " definition of HP:0009886 (Trichorrhexis nodosa)\n", + " \n", + " \n", + " Extension of hair growth on temples to lateral eyebrow\n", + " definition of HP:0005325 (Extension of hair growth on temples to lateral eyebrow)\n", + " \n", + " \n", + " A pattern of hair growth in which there is hair extending from the temples to the lateral eyebrows.\n", + " definition of HP:0005325 (Extension of hair growth on temples to lateral eyebrow)\n", + " \n", + " \n", + " #Unusual hairline with hair growth on temples extending to lateral eyebrow\n", + " definition of HP:0005325 (Extension of hair growth on temples to lateral eyebrow)\n", + " \n", + " \n", + " Increased anti-dairy protein IgE antibody level\n", + " definition of HP:0410220 (Increased anti-dairy protein IgE antibody level)\n", + " \n", + " \n", + " Increased level of IgE antibody against dairy proteins, including casein, alpha-lactalbumin, beta-lactoglobulin or bovine serum albumin contained in cow, sheep or goat milk and milk products.\n", + " definition of HP:0410220 (Increased anti-dairy protein IgE antibody level)\n", + " \n", + " \n", + " Dysphoria\n", + " definition of HP:0033838 (Dysphoria)\n", + " \n", + " \n", + " A state of feeling very unhappy, uneasy, or dissatisfied.\n", + " definition of HP:0033838 (Dysphoria)\n", + " \n", + " \n", + " #Dysphoric mood\n", + " definition of HP:0033838 (Dysphoria)\n", + " \n", + " \n", + " Inferior pubic ramus hypoplasia\n", + " definition of HP:0008823 (Inferior pubic ramus hypoplasia)\n", + " \n", + " \n", + " Underdevelopment of the lower branch of the pubis bone (inferior pubic ramus).\n", + " definition of HP:0008823 (Inferior pubic ramus hypoplasia)\n", + " \n", + " \n", + " #Hypoplastic inferior pubic rami\n", + " definition of HP:0008823 (Inferior pubic ramus hypoplasia)\n", + " \n", + " \n", + " Progressive cataract\n", + " definition of HP:0007834 (Progressive cataract)\n", + " \n", + " \n", + " A kind of cataract that progresses with age.\n", + " definition of HP:0007834 (Progressive cataract)\n", + " \n", + " \n", + " #Cataract, progressive\n", + " definition of HP:0007834 (Progressive cataract)\n", + " \n", + " \n", + " Epiphyseal stippling\n", + " definition of HP:0010655 (Epiphyseal stippling)\n", + " \n", + " \n", + " The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses.\n", + " definition of HP:0010655 (Epiphyseal stippling)\n", + " \n", + " \n", + " #Epiphyseal punctate calcifications #Speckled calcifications in end part of bone #Stippled epiphyses #Stippling of the epiphyses\n", + " definition of HP:0010655 (Epiphyseal stippling)\n", + " \n", + " \n", + " EMG: repetitive nerve stimulation abnormality\n", + " definition of HP:0030000 (EMG: repetitive nerve stimulation abnormality)\n", + " \n", + " \n", + " Abnormality observed upon electromyography when nerve studied is electrically stimulated six to ten times at 2 or 3 Hertz.\n", + " definition of HP:0030000 (EMG: repetitive nerve stimulation abnormality)\n", + " \n", + " \n", + " Chronic active hepatitis\n", + " definition of HP:0200120 (Chronic active hepatitis)\n", + " \n", + " \n", + " Chronic hepatitis associated with recurrent clinical exacerbations, extrahepatic manifestations, and progression to cirrhosis.\n", + " definition of HP:0200120 (Chronic active hepatitis)\n", + " \n", + " \n", + " Endolymphatic sac tumor\n", + " definition of HP:0030393 (Endolymphatic sac tumor)\n", + " \n", + " \n", + " A low-grade papillary epithelial neoplasm (adenocarcinoma) with a slow growth pattern. The endolymphatic duct emerges from the posterior wall of the saccule (of the inner ear) and ends in a blind pouch, the endolymphatic sac. Endolymphatic sac tumors (ELSTs) are known under different names in the literature (Heffner tumor, aggressive papillary middle ear tumor, and low-grade adenocarcinoma of endolymphatic sac origin).\n", + " definition of HP:0030393 (Endolymphatic sac tumor)\n", + " \n", + " \n", + " #Aggressive papillary middle ear tumor #Aggressive papillary middle ear tumour #Endolymphatic sac tumour #Heffner tumor #Heffner tumour #Low-grade adenocarcinoma of endolymphatic sac origin\n", + " definition of HP:0030393 (Endolymphatic sac tumor)\n", + " \n", + " \n", + " Positive bloodstream infectious agent antigen test\n", + " definition of HP:0430109 (Positive bloodstream infectious agent antigen test)\n", + " \n", + " \n", + " A test result demonstrating the presence of an antigen (marker such as a protein against which an antibody reacts) specific to an infectious agent.\n", + " definition of HP:0430109 (Positive bloodstream infectious agent antigen test)\n", + " \n", + " \n", + " Elevated urine biliverdin level\n", + " definition of HP:0025743 (Elevated urine biliverdin level)\n", + " \n", + " \n", + " The amount of biliverdin in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:0025743 (Elevated urine biliverdin level)\n", + " \n", + " \n", + " Adrenocorticotropin deficient adrenal insufficiency\n", + " definition of HP:0011735 (Adrenocorticotropin deficient adrenal insufficiency)\n", + " \n", + " \n", + " Adrenal insufficiency secondary to a defect in ACTH production.\n", + " definition of HP:0011735 (Adrenocorticotropin deficient adrenal insufficiency)\n", + " \n", + " \n", + " #ACTH deficient adrenal insufficiency\n", + " definition of HP:0011735 (Adrenocorticotropin deficient adrenal insufficiency)\n", + " \n", + " \n", + " Gingival overgrowth\n", + " definition of HP:0000212 (Gingival overgrowth)\n", + " \n", + " \n", + " Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown.\n", + " definition of HP:0000212 (Gingival overgrowth)\n", + " \n", + " \n", + " #Gingival enlargement #Gingival hyperplasia #Gum enlargement #Gum hypertrophy #Hypertrophic gingivitis\n", + " definition of HP:0000212 (Gingival overgrowth)\n", + " \n", + " \n", + " Moderately reduced visual acuity\n", + " definition of HP:0030515 (Moderately reduced visual acuity)\n", + " \n", + " \n", + " Moderate reduction of the ability to see. On the 6m visual acuity scale, moderate reduction is defined as less than 6/18 but at least 6/60. On the 20ft visual acuity scale, moderate reduction is defined as less than 20/70 but at least 20/200. On the decimal visual acuity scale, moderate reduction is defined as less than 0.3 but at least 0.1.\n", + " definition of HP:0030515 (Moderately reduced visual acuity)\n", + " \n", + " \n", + " #Moderate reduction in visual acuity #Moderate vision loss #Moderate visual impairment #Moderate visual loss\n", + " definition of HP:0030515 (Moderately reduced visual acuity)\n", + " \n", + " \n", + " Motor seizure\n", + " definition of HP:0020219 (Motor seizure)\n", + " \n", + " \n", + " A motor seizure is a type of seizure that is characterized at onset by involvement of the skeletal musculature. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement.\n", + " definition of HP:0020219 (Motor seizure)\n", + " \n", + " \n", + " Enlarged epiphyses of the 4th toe\n", + " definition of HP:0100069 (Enlarged epiphyses of the 4th toe)\n", + " \n", + " \n", + " #Enlarged end part of the 4th toe bone\n", + " definition of HP:0100069 (Enlarged epiphyses of the 4th toe)\n", + " \n", + " \n", + " Osteomyelitis leading to amputation due to slow healing fractures\n", + " definition of HP:0005010 (Osteomyelitis leading to amputation due to slow healing fractures)\n", + " \n", + " \n", + " Subretinal pigment epithelium hemorrhage\n", + " definition of HP:0025244 (Subretinal pigment epithelium hemorrhage)\n", + " \n", + " \n", + " An accumulation of blood located between the retinal pigment epithelium (RPE) and Bruch's membrane.\n", + " definition of HP:0025244 (Subretinal pigment epithelium hemorrhage)\n", + " \n", + " \n", + " #Subretinal pigment epithelium haemorrhage\n", + " definition of HP:0025244 (Subretinal pigment epithelium hemorrhage)\n", + " \n", + " \n", + " Abnormal joint morphology\n", + " definition of HP:0001367 (Abnormal joint morphology)\n", + " \n", + " \n", + " An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join.\n", + " definition of HP:0001367 (Abnormal joint morphology)\n", + " \n", + " \n", + " #Abnormal shape of joints #Abnormality of the joints #Anomaly of the joints\n", + " definition of HP:0001367 (Abnormal joint morphology)\n", + " \n", + " \n", + " Underdeveloped superior crus of antihelix\n", + " definition of HP:0011246 (Underdeveloped superior crus of antihelix)\n", + " \n", + " \n", + " Decreased protrusion of the superior crus relative to the prominence of a normal antihelix stem.\n", + " definition of HP:0011246 (Underdeveloped superior crus of antihelix)\n", + " \n", + " \n", + " #Hypoplastic superior crus of antihelix #Hypotrophic superior crus of antihelix\n", + " definition of HP:0011246 (Underdeveloped superior crus of antihelix)\n", + " \n", + " \n", + " Nasolacrimal sac lymphoma\n", + " definition of HP:0500047 (Nasolacrimal sac lymphoma)\n", + " \n", + " \n", + " A type of lymphoma that involves the nasolacrimal sac.\n", + " definition of HP:0500047 (Nasolacrimal sac lymphoma)\n", + " \n", + " \n", + " Elevated CSF saccharopine concentration\n", + " definition of HP:6000270 (Elevated CSF saccharopine concentration)\n", + " \n", + " \n", + " Concentration of saccharopine in the cerebrospinal fluid (CSF) above the upper limit of normal.\n", + " definition of HP:6000270 (Elevated CSF saccharopine concentration)\n", + " \n", + " \n", + " #Saccharopine present in CSF\n", + " definition of HP:6000270 (Elevated CSF saccharopine concentration)\n", + " \n", + " \n", + " Pulmonary fat embolism\n", + " definition of HP:0032008 (Pulmonary fat embolism)\n", + " \n", + " \n", + " The release of fat globules into the venous circulation, thereby blocking blood circulation to the lung.\n", + " definition of HP:0032008 (Pulmonary fat embolism)\n", + " \n", + " \n", + " #Fat embolism\n", + " definition of HP:0032008 (Pulmonary fat embolism)\n", + " \n", + " \n", + " Recurrent respiratory infections\n", + " definition of HP:0002205 (Recurrent respiratory infections)\n", + " \n", + " \n", + " An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.\n", + " definition of HP:0002205 (Recurrent respiratory infections)\n", + " \n", + " \n", + " #Frequent respiratory infections #Multiple respiratory infections #Recurrent respiratory infections #respiratory infections, recurrent #Susceptibility to respiratory infections\n", + " definition of HP:0002205 (Recurrent respiratory infections)\n", + " \n", + " \n", + " Increased CSF leucine concentration\n", + " definition of HP:0500191 (Increased CSF leucine concentration)\n", + " \n", + " \n", + " Abnormally increased levels of leucine in cerebrospinal fluid.\n", + " definition of HP:0500191 (Increased CSF leucine concentration)\n", + " \n", + " \n", + " #High leucine levels in cerebrospinal fluid\n", + " definition of HP:0500191 (Increased CSF leucine concentration)\n", + " \n", + " \n", + " Abnormal pelvic girdle bone morphology\n", + " definition of HP:0002644 (Abnormal pelvic girdle bone morphology)\n", + " \n", + " \n", + " An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs.\n", + " definition of HP:0002644 (Abnormal pelvic girdle bone morphology)\n", + " \n", + " \n", + " #Abnormal shape of pelvic girdle bone #Abnormality of pelvic girdle bone morphology\n", + " definition of HP:0002644 (Abnormal pelvic girdle bone morphology)\n", + " \n", + " \n", + " Right ventricular dilatation\n", + " definition of HP:0005133 (Right ventricular dilatation)\n", + " \n", + " \n", + " Enlargement of the chamber of the right ventricle, which can be defined echocardiographically as a right ventricular to left ventricular ratio greater than 1:1.\n", + " definition of HP:0005133 (Right ventricular dilatation)\n", + " \n", + " \n", + " #Dilated heart right ventricle\n", + " definition of HP:0005133 (Right ventricular dilatation)\n", + " \n", + " \n", + " Abnormal second heart sound\n", + " definition of HP:0031661 (Abnormal second heart sound)\n", + " \n", + " \n", + " Any anomaly of the second heart sound (S2), which is produced by aortic (A2) and pulmonic (P2) valve closure. The A2-P2 interval normally increases with inspiration and narrows with expiration.\n", + " definition of HP:0031661 (Abnormal second heart sound)\n", + " \n", + " \n", + " Finely dispersed lymph node lymphocyte chromatin\n", + " definition of HP:0020281 (Finely dispersed lymph node lymphocyte chromatin)\n", + " \n", + " \n", + " Nuclei of lymphocytes with less dense, evenly distributed chromatin than the normal densely packed, often clumped chromatin of mature lymphocytes.\n", + " definition of HP:0020281 (Finely dispersed lymph node lymphocyte chromatin)\n", + " \n", + " \n", + " Abnormal pulmonary valve physiology\n", + " definition of HP:0031654 (Abnormal pulmonary valve physiology)\n", + " \n", + " \n", + " Any functional anomaly of the pumonary valve.\n", + " definition of HP:0031654 (Abnormal pulmonary valve physiology)\n", + " \n", + " \n", + " Increased circulating insulin-like growth factor 1 concentration\n", + " definition of HP:0030269 (Increased circulating insulin-like growth factor 1 concentration)\n", + " \n", + " \n", + " An elevated level of insulin-like growth factor 1 (IGF1) in the blood circulation.\n", + " definition of HP:0030269 (Increased circulating insulin-like growth factor 1 concentration)\n", + " \n", + " \n", + " #Elevated serum IGF1 #Increased serum IGF1 #Increased serum insulin-like growth factor 1\n", + " definition of HP:0030269 (Increased circulating insulin-like growth factor 1 concentration)\n", + " \n", + " \n", + " Truncal ataxia\n", + " definition of HP:0002078 (Truncal ataxia)\n", + " \n", + " \n", + " Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting.\n", + " definition of HP:0002078 (Truncal ataxia)\n", + " \n", + " \n", + " #Instability or lack of coordination of central trunk muscles #Trunk ataxia\n", + " definition of HP:0002078 (Truncal ataxia)\n", + " \n", + " \n", + " Corneopalpebral synechiae\n", + " definition of HP:6000101 (Corneopalpebral synechiae)\n", + " \n", + " \n", + " An adhesion between the conjunctiva of the eyelid and the cornea.\n", + " definition of HP:6000101 (Corneopalpebral synechiae)\n", + " \n", + " \n", + " Wide epiphyseal plates of the upper limbs\n", + " definition of HP:0003846 (Wide epiphyseal plates of the upper limbs)\n", + " \n", + " \n", + " #Broad epiphyseal plates of the upper limbs #Broad growth plates of upper limbs\n", + " definition of HP:0003846 (Wide epiphyseal plates of the upper limbs)\n", + " \n", + " \n", + " Abnormality of the epiphyses of the 4th finger\n", + " definition of HP:0009174 (Abnormality of the epiphyses of the 4th finger)\n", + " \n", + " \n", + " Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 4th finger.\n", + " definition of HP:0009174 (Abnormality of the epiphyses of the 4th finger)\n", + " \n", + " \n", + " #Abnormality of the end part of the ring finger\n", + " definition of HP:0009174 (Abnormality of the epiphyses of the 4th finger)\n", + " \n", + " \n", + " Cervical vertebral agenesis\n", + " definition of HP:0008459 (Cervical vertebral agenesis)\n", + " \n", + " \n", + " Agenesis of one or more vertebrae of the cervical vertebral column.\n", + " definition of HP:0008459 (Cervical vertebral agenesis)\n", + " \n", + " \n", + " #Cervical vertebrae agenesis #Missing cervical vertebrae\n", + " definition of HP:0008459 (Cervical vertebral agenesis)\n", + " \n", + " \n", + " Abnormality of peripheral nervous system electrophysiology\n", + " definition of HP:0030177 (Abnormality of peripheral nervous system electrophysiology)\n", + " \n", + " \n", + " An abnormality of the function of the electrical signals with which peripheral nerve cells communicate with each other or with muscles.\n", + " definition of HP:0030177 (Abnormality of peripheral nervous system electrophysiology)\n", + " \n", + " \n", + " #Abnormal nerve conduction study\n", + " definition of HP:0030177 (Abnormality of peripheral nervous system electrophysiology)\n", + " \n", + " \n", + " Impaired renal tubular reabsorption of sodium\n", + " definition of HP:0034358 (Impaired renal tubular reabsorption of sodium)\n", + " \n", + " \n", + " Increased fractional excretion (FE) of sodium in the urine. The FE of sodium is the percentage of the sodium filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine sodium, rather than by the interpretation of urinary glucose concentration alone, as urinary glucose concentrations can vary with water reabsorption.\n", + " definition of HP:0034358 (Impaired renal tubular reabsorption of sodium)\n", + " \n", + " \n", + " Abnormal external nose morphology\n", + " definition of HP:0010938 (Abnormal external nose morphology)\n", + " \n", + " \n", + " An abnormality of the external nose.\n", + " definition of HP:0010938 (Abnormal external nose morphology)\n", + " \n", + " \n", + " #Abnormality of the external nose #Anomaly of the external nose\n", + " definition of HP:0010938 (Abnormal external nose morphology)\n", + " \n", + " \n", + " Choriocarcinoma\n", + " definition of HP:0100768 (Choriocarcinoma)\n", + " \n", + " \n", + " A malignant, trophoblastic and aggressive cancer, usually of the placenta. It is characterized by early hematogenous spread to the lungs and belongs to the far end of the spectrum of gestational trophoblastic disease (GTD), a subset of germ cell tumors.\n", + " definition of HP:0100768 (Choriocarcinoma)\n", + " \n", + " \n", + " Dorsal subluxation of ulna\n", + " definition of HP:0006459 (Dorsal subluxation of ulna)\n", + " \n", + " \n", + " Partial dislocation of the ulna in the dorsal direction.\n", + " definition of HP:0006459 (Dorsal subluxation of ulna)\n", + " \n", + " \n", + " Bullet-shaped hallux phalanx\n", + " definition of HP:0010060 (Bullet-shaped hallux phalanx)\n", + " \n", + " \n", + " An abnormal morphology of one or more phalanges of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.\n", + " definition of HP:0010060 (Bullet-shaped hallux phalanx)\n", + " \n", + " \n", + " #Bullet-shaped bone of big toe #Bullet-shaped phalanges of the hallux\n", + " definition of HP:0010060 (Bullet-shaped hallux phalanx)\n", + " \n", + " \n", + " Postprandial fullness\n", + " definition of HP:0033843 (Postprandial fullness)\n", + " \n", + " \n", + " Feeling excessively full after meals.\n", + " definition of HP:0033843 (Postprandial fullness)\n", + " \n", + " \n", + " Moderate myopia\n", + " definition of HP:0031624 (Moderate myopia)\n", + " \n", + " \n", + " A moderate form of myopia with refractive error of between -3.00 and -6.00 diopters.\n", + " definition of HP:0031624 (Moderate myopia)\n", + " \n", + " \n", + " Posterior rib fusion\n", + " definition of HP:0000913 (Posterior rib fusion)\n", + " \n", + " \n", + " Complete or partial merging of the posterior part of adjacent ribs.\n", + " definition of HP:0000913 (Posterior rib fusion)\n", + " \n", + " \n", + " Ivory epiphysis of the middle phalanx of the 5th toe\n", + " definition of HP:0100219 (Ivory epiphysis of the middle phalanx of the 5th toe)\n", + " \n", + " \n", + " #Increased bone density of end part of the middle bone of the little toe #Increased bone density of end part of the middle bone of the pinkie toe #Increased bone density of end part of the middle bone of the pinky toe\n", + " definition of HP:0100219 (Ivory epiphysis of the middle phalanx of the 5th toe)\n", + " \n", + " \n", + " Neuroblastoma\n", + " definition of HP:0003006 (Neuroblastoma)\n", + " \n", + " \n", + " Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum.\n", + " definition of HP:0003006 (Neuroblastoma)\n", + " \n", + " \n", + " #Cancer of early nerve cells\n", + " definition of HP:0003006 (Neuroblastoma)\n", + " \n", + " \n", + " Malignant pleural effusion\n", + " definition of HP:6001078 (Malignant pleural effusion)\n", + " \n", + " \n", + " The accumulation of a significant amount of exudate in the pleural space, accompanied by the presence of malignant cells or tumour tissue.\n", + " definition of HP:6001078 (Malignant pleural effusion)\n", + " \n", + " \n", + " #Malignant cells in pleural fluid\n", + " definition of HP:6001078 (Malignant pleural effusion)\n", + " \n", + " \n", + " Focal pedal automatism seizure\n", + " definition of HP:0032901 (Focal pedal automatism seizure)\n", + " \n", + " \n", + " A type of focal automatism seizure characterized by coordinated bilateral or unilateral movements of the feet or legs at onset. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs.\n", + " definition of HP:0032901 (Focal pedal automatism seizure)\n", + " \n", + " \n", + " Positive CSF mycobacterial culture\n", + " definition of HP:6000835 (Positive CSF mycobacterial culture)\n", + " \n", + " \n", + " Growth of mycobacteria in a culture derived from cerebrospinal fluid (CSF).\n", + " definition of HP:6000835 (Positive CSF mycobacterial culture)\n", + " \n", + " \n", + " #Positive CSF mycobacterium culture\n", + " definition of HP:6000835 (Positive CSF mycobacterial culture)\n", + " \n", + " \n", + " Reduced circulating acyl-CoA oxidase activity\n", + " definition of HP:6000217 (Reduced circulating acyl-CoA oxidase activity)\n", + " \n", + " \n", + " The activity of acyl-CoA oxidase activity in the blood circulation is below the lower limit of normal.\n", + " definition of HP:6000217 (Reduced circulating acyl-CoA oxidase activity)\n", + " \n", + " \n", + " Aplasia of the middle phalanx of the 5th toe\n", + " definition of HP:0100383 (Aplasia of the middle phalanx of the 5th toe)\n", + " \n", + " \n", + " #Absent middle bone of little toe #Absent middle bone of pinkie toe #Absent middle bone of pinky toe\n", + " definition of HP:0100383 (Aplasia of the middle phalanx of the 5th toe)\n", + " \n", + " \n", + " Tarsal synostosis\n", + " definition of HP:0008368 (Tarsal synostosis)\n", + " \n", + " \n", + " Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones).\n", + " definition of HP:0008368 (Tarsal synostosis)\n", + " \n", + " \n", + " #Fused ankle bones #Synostosis involving tarsal bones #Synostosis of tarsal bones #Tarsal bone fusion #Tarsal bone synostosis #Tarsal fusion #Tarsal fusions\n", + " definition of HP:0008368 (Tarsal synostosis)\n", + " \n", + " \n", + " Triangular shaped middle phalanx of the 3rd finger\n", + " definition of HP:0009436 (Triangular shaped middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " Triangular shaped middle phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.\n", + " definition of HP:0009436 (Triangular shaped middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Triangular shaped middle bone of the middle finger\n", + " definition of HP:0009436 (Triangular shaped middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " Tubular metacarpal bones\n", + " definition of HP:0006166 (Tubular metacarpal bones)\n", + " \n", + " \n", + " #Cylindrical shaped long bones of hand\n", + " definition of HP:0006166 (Tubular metacarpal bones)\n", + " \n", + " \n", + " Elevated circulating trihydroxycholestanoic acid concentration\n", + " definition of HP:6000973 (Elevated circulating trihydroxycholestanoic acid concentration)\n", + " \n", + " \n", + " The concentration of trihydroxycholestanoic acid in the blood circulation is above the upper limit of normal.\n", + " definition of HP:6000973 (Elevated circulating trihydroxycholestanoic acid concentration)\n", + " \n", + " \n", + " #Elevated circulating THCA concentration\n", + " definition of HP:6000973 (Elevated circulating trihydroxycholestanoic acid concentration)\n", + " \n", + " \n", + " Pigment incontinence\n", + " definition of HP:0034572 (Pigment incontinence)\n", + " \n", + " \n", + " A process in which melanosomes (melanin granules) are deposited in the dermis. The dermal melanosomes are observed to be mainly in macrophages. This phenomenon of pigmentary incontinence usually follows an inflammatory process with the basic feature of basal cell damage, such as in lichen planus, lupus erythematosus, Riehl's melanosis, incontinentia pigmenti (Bloch-Sulzberger), and fixed drug eruption. Incontinence of pigment, or dropping off of epidermal melanin into the dermis, frequently produces a clinically recognizable and characteristic slate-gray pigmentation.\n", + " definition of HP:0034572 (Pigment incontinence)\n", + " \n", + " \n", + " #Pigmentary incontinence in papillary dermis\n", + " definition of HP:0034572 (Pigment incontinence)\n", + " \n", + " \n", + " CD10 expression\n", + " definition of HP:0430095 (CD10 expression)\n", + " \n", + " \n", + " Detection of the presence of CD10 on the cell(s) of interest with the use of anti-CD10 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry).\n", + " definition of HP:0430095 (CD10 expression)\n", + " \n", + " \n", + " Generalized dystonia\n", + " definition of HP:0007325 (Generalized dystonia)\n", + " \n", + " \n", + " A type of dystonia that affects all or most of the body.\n", + " definition of HP:0007325 (Generalized dystonia)\n", + " \n", + " \n", + " #Generalised dystonia\n", + " definition of HP:0007325 (Generalized dystonia)\n", + " \n", + " \n", + " Anhedonia\n", + " definition of HP:0012154 (Anhedonia)\n", + " \n", + " \n", + " Decreased ability to experience or feel joy or pleasure from any experience that is usually found to be pleasurable by the individual. This applies to any of the senses, e.g.,. taste, smell, and sound. Food may no longer be tasty, or a musical experience may no longer be enjoyable. Anhedonia also refers to an inability to feel pleasure related to activities that an affected individual previously derived pleasure from.\n", + " definition of HP:0012154 (Anhedonia)\n", + " \n", + " \n", + " #Anhedonic\n", + " definition of HP:0012154 (Anhedonia)\n", + " \n", + " \n", + " Maintenance insomnia\n", + " definition of HP:0031355 (Maintenance insomnia)\n", + " \n", + " \n", + " Individuals affected by abnormal difficulty in staying asleep tend to wake up at night and struggle to return to sleep. This condition typically involves spending more than 30 minutes awake during the night.\n", + " definition of HP:0031355 (Maintenance insomnia)\n", + " \n", + " \n", + " #Insomnia middle #Middle insomnia #Waking up several times during the night\n", + " definition of HP:0031355 (Maintenance insomnia)\n", + " \n", + " \n", + " Ventricular tachycardia\n", + " definition of HP:0004756 (Ventricular tachycardia)\n", + " \n", + " \n", + " A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms).\n", + " definition of HP:0004756 (Ventricular tachycardia)\n", + " \n", + " \n", + " Forefoot adduction contracture\n", + " definition of HP:0034680 (Forefoot adduction contracture)\n", + " \n", + " \n", + " Decreased circulating dihydrotestosterone concentration\n", + " definition of HP:0033810 (Decreased circulating dihydrotestosterone concentration)\n", + " \n", + " \n", + " A reduced concentration of dihydrotestosterone in the blood circulation.\n", + " definition of HP:0033810 (Decreased circulating dihydrotestosterone concentration)\n", + " \n", + " \n", + " Abnormal reticulocyte morphology\n", + " definition of HP:0004312 (Abnormal reticulocyte morphology)\n", + " \n", + " \n", + " A reticulocyte abnormality.\n", + " definition of HP:0004312 (Abnormal reticulocyte morphology)\n", + " \n", + " \n", + " #Abnormality of reticulocytes\n", + " definition of HP:0004312 (Abnormal reticulocyte morphology)\n", + " \n", + " \n", + " Abnormal nipple discharge\n", + " definition of HP:6000062 (Abnormal nipple discharge)\n", + " \n", + " \n", + " Abnormal fluid that seeps out of the nipple of the breast. Nipple discharge is categozied as lactational, physiologic, or pathologic.\n", + " definition of HP:6000062 (Abnormal nipple discharge)\n", + " \n", + " \n", + " Cleft palate\n", + " definition of HP:0000175 (Cleft palate)\n", + " \n", + " \n", + " Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).\n", + " definition of HP:0000175 (Cleft palate)\n", + " \n", + " \n", + " #Cleft hard and soft palate #Cleft of hard and soft palate #Cleft of palate #Cleft palate #Cleft roof of mouth #Palatoschisis #Uranostaphyloschisis\n", + " definition of HP:0000175 (Cleft palate)\n", + " \n", + " \n", + " Small epiphysis of the proximal phalanx of the 5th finger\n", + " definition of HP:0009159 (Small epiphysis of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms.\n", + " definition of HP:0009159 (Small epiphysis of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " #Small end part of the innermost bone of little finger #Small end part of the innermost bone of pinkie finger #Small end part of the innermost bone of pinky finger\n", + " definition of HP:0009159 (Small epiphysis of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " Intermediate atrioventricular canal defect\n", + " definition of HP:0011576 (Intermediate atrioventricular canal defect)\n", + " \n", + " \n", + " A specific combination of heart defects with a primum atrial septal defect, cleft anterior mitral valve leaflet, and inlet ventricular defect. There is one valve annulus and two valve orifices.\n", + " definition of HP:0011576 (Intermediate atrioventricular canal defect)\n", + " \n", + " \n", + " #Intermediate atrioventricular septal defect\n", + " definition of HP:0011576 (Intermediate atrioventricular canal defect)\n", + " \n", + " \n", + " 4-layered lissencephaly\n", + " definition of HP:0006818 (4-layered lissencephaly)\n", + " \n", + " \n", + " A form of lissencephaly in which the cortex is thickened and has four more or less disorganized layers rather than six normal layers resulting from incomplete neuronal migration during brain development. At neuropathological examination, a 4-layered cortex consists of an upper molecular layer, a second thin cellular layer containing pyramidal neurons usually observed in layer V, a third pale poorly cellular layer and a fourth thick deep layer made up of neurons which had failed to migrate. Radiologocally would manifest as agyria or pachygyria with cortical thickness greater than 10 mm.\n", + " definition of HP:0006818 (4-layered lissencephaly)\n", + " \n", + " \n", + " #Classic lissencephaly #Four-layered lissencephaly #Lissencephaly, type I #Type 1 lissencephaly #Type I lissencephaly\n", + " definition of HP:0006818 (4-layered lissencephaly)\n", + " \n", + " \n", + " Truncal location\n", + " definition of HP:6000425 (Truncal location)\n", + " \n", + " \n", + " Applies to an abnormality that is situated in (or predominant in) the trunk of the body. The trunk is the main part of a person's body, not including the head, legs, or arms.\n", + " definition of HP:6000425 (Truncal location)\n", + " \n", + " \n", + " Absent epiphysis of the distal phalanx of the hallux\n", + " definition of HP:0010138 (Absent epiphysis of the distal phalanx of the hallux)\n", + " \n", + " \n", + " Failure to form (agenesis) of the epiphysis of the distal phalanx of the hallux.\n", + " definition of HP:0010138 (Absent epiphysis of the distal phalanx of the hallux)\n", + " \n", + " \n", + " #Absent end part of the outermost bone of the big toe\n", + " definition of HP:0010138 (Absent epiphysis of the distal phalanx of the hallux)\n", + " \n", + " \n", + " Amyoplasia\n", + " definition of HP:0003634 (Amyoplasia)\n", + " \n", + " \n", + " Congenital lack of development of the muscles, which are then replaced by a mixture of dense fat and fibrous tissue.\n", + " definition of HP:0003634 (Amyoplasia)\n", + " \n", + " \n", + " #Absent muscles since birth #Congenital absence of muscles\n", + " definition of HP:0003634 (Amyoplasia)\n", + " \n", + " \n", + " Abnormal response to short acting pulmonary vasodilator\n", + " definition of HP:0030893 (Abnormal response to short acting pulmonary vasodilator)\n", + " \n", + " \n", + " Pulmonary vasodilator testing is performed during right-heart catheterization and involves a short-acting vasoactive agent such as adenosine, epoprostenol, or inhaled nitric oxide. The current definition of a normal (positive) response is a drop in mean pulmonary artery pressure of at least 10 mm Hg (or 20 percent) to below 40 mm Hg.\n", + " definition of HP:0030893 (Abnormal response to short acting pulmonary vasodilator)\n", + " \n", + " \n", + " Reduced N-acetylgalactosamine-6-sulfate sulfatase in cultured fibroblasts\n", + " definition of HP:4000197 (Reduced N-acetylgalactosamine-6-sulfate sulfatase in cultured fibroblasts)\n", + " \n", + " \n", + " Concentration or activity of N-acetylgalactosamine-6-sulfate sulfatase as measured in cultured fibroblasts is below the limits of normal.\n", + " definition of HP:4000197 (Reduced N-acetylgalactosamine-6-sulfate sulfatase in cultured fibroblasts)\n", + " \n", + " \n", + " Coronary ostial atresia\n", + " definition of HP:0031626 (Coronary ostial atresia)\n", + " \n", + " \n", + " Absence of the normal opening of a coronary ostium. There are normally two coronary ostia, which are site of origin of the main left or right main coronary artery and are located in the ascending aorta just above the aortic valve.\n", + " definition of HP:0031626 (Coronary ostial atresia)\n", + " \n", + " \n", + " #Atresia of coronary ostium\n", + " definition of HP:0031626 (Coronary ostial atresia)\n", + " \n", + " \n", + " Pseudoepiphysis of the proximal phalanx of the 5th finger\n", + " definition of HP:0009200 (Pseudoepiphysis of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " A secondary ossification center in the proximal phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.\n", + " definition of HP:0009200 (Pseudoepiphysis of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " Reduced red cell pyruvate kinase level\n", + " definition of HP:0025109 (Reduced red cell pyruvate kinase level)\n", + " \n", + " \n", + " Decrease in the level of pyruvate kinase (PK) within erythrocytes. PK catalyzes the reaction: ATP + pyruvate = ADP + phosphoenolpyruvate.\n", + " definition of HP:0025109 (Reduced red cell pyruvate kinase level)\n", + " \n", + " \n", + " #Reduced erythrocyte pyruvate kinase activity\n", + " definition of HP:0025109 (Reduced red cell pyruvate kinase level)\n", + " \n", + " \n", + " Abnormal cardiac ventricle morphology\n", + " definition of HP:0001713 (Abnormal cardiac ventricle morphology)\n", + " \n", + " \n", + " An abnormality of a cardiac ventricle.\n", + " definition of HP:0001713 (Abnormal cardiac ventricle morphology)\n", + " \n", + " \n", + " #Abnormality of cardiac ventricle\n", + " definition of HP:0001713 (Abnormal cardiac ventricle morphology)\n", + " \n", + " \n", + " Iliac horns\n", + " definition of HP:0009780 (Iliac horns)\n", + " \n", + " \n", + " Horn-like malformations of the iliac crests with symmetrical bilateral central posterior iliac processes. A characteristic finding in the Nail-Patella syndrome. Iliac horns are visible on X-ray and may be palpable, but are asymptomatic.\n", + " definition of HP:0009780 (Iliac horns)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of facial bones\n", + " definition of HP:0034261 (Aplasia/Hypoplasia of facial bones)\n", + " \n", + " \n", + " A developmental defect characterized by absence or underdevelopment of one or more facial bone.\n", + " definition of HP:0034261 (Aplasia/Hypoplasia of facial bones)\n", + " \n", + " \n", + " Abnormal brain-evoked potentials\n", + " definition of HP:0430106 (Abnormal brain-evoked potentials)\n", + " \n", + " \n", + " Any anomaly of brain-evoked potentials, defined as potentials generated by exteroceptive stimuli reflect synchronized activity by neuronal and axonal groups in the central nervous system (CNS) resulting from the arrival of nerve impulses after stimulation of a peripheral nerve or its receptors. Depending on the type of stimulus, evoked potentials are categorized as visual (VEP), auditory (AEP), or somatosensory (SSEP). Motor evoked potentials (MEP) occur when the brain's motor area is stimulated. They result from the activation of a sufficient number of motor units.\n", + " definition of HP:0430106 (Abnormal brain-evoked potentials)\n", + " \n", + " \n", + " Tall chin\n", + " definition of HP:0400000 (Tall chin)\n", + " \n", + " \n", + " Increased vertical distance from the vermillion border of the lower lip to the inferior-most point of the chin.\n", + " definition of HP:0400000 (Tall chin)\n", + " \n", + " \n", + " #Increased height of chin #Increased height of menton region #Long chin #Tall chin #Vertical excess of chin #Vertical hyperplasia of chin\n", + " definition of HP:0400000 (Tall chin)\n", + " \n", + " \n", + " Abnormality of dental color\n", + " definition of HP:0011073 (Abnormality of dental color)\n", + " \n", + " \n", + " A developmental defect of tooth color.\n", + " definition of HP:0011073 (Abnormality of dental color)\n", + " \n", + " \n", + " #Abnormality of dental color #Abnormality of dental colour #Abnormality of dental shade #Abnormality of tooth color #Abnormality of tooth colour #Abnormality of tooth shade\n", + " definition of HP:0011073 (Abnormality of dental color)\n", + " \n", + " \n", + " Paranasal sinus hypoplasia\n", + " definition of HP:0006784 (Paranasal sinus hypoplasia)\n", + " \n", + " \n", + " Underdevelopment of the paranasal sinuses.\n", + " definition of HP:0006784 (Paranasal sinus hypoplasia)\n", + " \n", + " \n", + " #Decreased size of paranasal sinus #Decreased volume of paranasal sinus #Underdevelopment of paranasal sinus\n", + " definition of HP:0006784 (Paranasal sinus hypoplasia)\n", + " \n", + " \n", + " Retinal capillary hemangioma\n", + " definition of HP:0009711 (Retinal capillary hemangioma)\n", + " \n", + " \n", + " A benign vascular tumor of the retina without any neoplastic characteristics.\n", + " definition of HP:0009711 (Retinal capillary hemangioma)\n", + " \n", + " \n", + " #Retinal hemangioblastoma\n", + " definition of HP:0009711 (Retinal capillary hemangioma)\n", + " \n", + " \n", + " Aplastic colon\n", + " definition of HP:0500027 (Aplastic colon)\n", + " \n", + " \n", + " Congenital absence of the colon\n", + " definition of HP:0500027 (Aplastic colon)\n", + " \n", + " \n", + " #Absence of the colon #Aplasia of the colon\n", + " definition of HP:0500027 (Aplastic colon)\n", + " \n", + " \n", + " Repetitive compulsive behavior\n", + " definition of HP:0008762 (Repetitive compulsive behavior)\n", + " \n", + " \n", + " #Repetitive compulsive behavior #Repetitive compulsive behaviour\n", + " definition of HP:0008762 (Repetitive compulsive behavior)\n", + " \n", + " \n", + " Enlargement of the wrists\n", + " definition of HP:0003020 (Enlargement of the wrists)\n", + " \n", + " \n", + " #Enlargement of the wrists\n", + " definition of HP:0003020 (Enlargement of the wrists)\n", + " \n", + " \n", + " Non-Hodgkin lymphoma\n", + " definition of HP:0012539 (Non-Hodgkin lymphoma)\n", + " \n", + " \n", + " A type of lymphoma characterized microscopically by the absence of multinucleated Reed-Sternberg cells.\n", + " definition of HP:0012539 (Non-Hodgkin lymphoma)\n", + " \n", + " \n", + " Clinical relevance\n", + " definition of HP:0045088 (Clinical relevance)\n", + " \n", + " \n", + " Subontology for annotating phenotypic features as distinctive or minor findings in patients. The subontology is intended to be used to annotate subjective clinical impressions of whether a certain finding is important for the differential diagnosis.\n", + " definition of HP:0045088 (Clinical relevance)\n", + " \n", + " \n", + " Abdominal colic\n", + " definition of HP:0011848 (Abdominal colic)\n", + " \n", + " \n", + " A type of abdominal pain that comes and goes in waves, most often starting and ending suddenly and being of severe intensity.\n", + " definition of HP:0011848 (Abdominal colic)\n", + " \n", + " \n", + " Wide intermamillary distance\n", + " definition of HP:0006610 (Wide intermamillary distance)\n", + " \n", + " \n", + " A larger than usual distance between the left and right nipple.\n", + " definition of HP:0006610 (Wide intermamillary distance)\n", + " \n", + " \n", + " #Wide-spaced nipples #Widely spaced nipples #Widely-spaced nipples\n", + " definition of HP:0006610 (Wide intermamillary distance)\n", + " \n", + " \n", + " Progressive language deterioration\n", + " definition of HP:0007064 (Progressive language deterioration)\n", + " \n", + " \n", + " Progressive loss of previously present language abilities.\n", + " definition of HP:0007064 (Progressive language deterioration)\n", + " \n", + " \n", + " Thenar muscle atrophy\n", + " definition of HP:0003393 (Thenar muscle atrophy)\n", + " \n", + " \n", + " Wasting of thenar muscles, which are located on palm of the hand at the base of the thumb.\n", + " definition of HP:0003393 (Thenar muscle atrophy)\n", + " \n", + " \n", + " #Thenar atrophy\n", + " definition of HP:0003393 (Thenar muscle atrophy)\n", + " \n", + " \n", + " Osteolytic defects of the phalanges of the hand\n", + " definition of HP:0009771 (Osteolytic defects of the phalanges of the hand)\n", + " \n", + " \n", + " Dissolution or degeneration of bone tissue of the phalanges of the hand.\n", + " definition of HP:0009771 (Osteolytic defects of the phalanges of the hand)\n", + " \n", + " \n", + " #Acro-osteolysis #Acroosteolysis #Breakdown of small bones of fingers\n", + " definition of HP:0009771 (Osteolytic defects of the phalanges of the hand)\n", + " \n", + " \n", + " Indeterminate ventricular axis\n", + " definition of HP:0033570 (Indeterminate ventricular axis)\n", + " \n", + " \n", + " A kind of abnormal ventricular axis in the EKG whereby the QRS complex is isoelectric or equiphasic in all leads with no dominant QRS deflection.\n", + " definition of HP:0033570 (Indeterminate ventricular axis)\n", + " \n", + " \n", + " Asymmetry of the thorax\n", + " definition of HP:0001555 (Asymmetry of the thorax)\n", + " \n", + " \n", + " Lack of symmetry between the left and right halves of the thorax.\n", + " definition of HP:0001555 (Asymmetry of the thorax)\n", + " \n", + " \n", + " #Asymmetric chest\n", + " definition of HP:0001555 (Asymmetry of the thorax)\n", + " \n", + " \n", + " Small intestine mass\n", + " definition of HP:6000410 (Small intestine mass)\n", + " \n", + " \n", + " A swelling or enlargement localized to the small intestine. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.\n", + " definition of HP:6000410 (Small intestine mass)\n", + " \n", + " \n", + " Calcium channel blocker exposure\n", + " definition of HP:4000119 (Calcium channel blocker exposure)\n", + " \n", + " \n", + " History of having taken a calcium channel blocker such as amlodipine, nicardipine, nifedipine, verapamil, or diltiazem.\n", + " definition of HP:4000119 (Calcium channel blocker exposure)\n", + " \n", + " \n", + " #Calcium channel blocking drug use\n", + " definition of HP:4000119 (Calcium channel blocker exposure)\n", + " \n", + " \n", + " Abnormal circulating aldosterone concentration\n", + " definition of HP:0040085 (Abnormal circulating aldosterone concentration)\n", + " \n", + " \n", + " #Abnormal circulating aldosterone #Abnormal plasma aldosterone\n", + " definition of HP:0040085 (Abnormal circulating aldosterone concentration)\n", + " \n", + " \n", + " Fungal bloodstream infection\n", + " definition of HP:0034749 (Fungal bloodstream infection)\n", + " \n", + " \n", + " Detection of a fungal organism (such as candida or coccidioides) in the blood stream.\n", + " definition of HP:0034749 (Fungal bloodstream infection)\n", + " \n", + " \n", + " #Fungi in blood\n", + " definition of HP:0034749 (Fungal bloodstream infection)\n", + " \n", + " \n", + " Abnormality of levator veli palatini muscle\n", + " definition of HP:3000073 (Abnormality of levator veli palatini muscle)\n", + " \n", + " \n", + " An abnormality of a levator veli palatini.\n", + " definition of HP:3000073 (Abnormality of levator veli palatini muscle)\n", + " \n", + " \n", + " Abnormal circulating monocarboxylic acid concentration\n", + " definition of HP:0010996 (Abnormal circulating monocarboxylic acid concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of a monocarboxylic acid in the blood circulation.\n", + " definition of HP:0010996 (Abnormal circulating monocarboxylic acid concentration)\n", + " \n", + " \n", + " Small trapezoid bone\n", + " definition of HP:0004258 (Small trapezoid bone)\n", + " \n", + " \n", + " Underdevelopment of the trapezoid.\n", + " definition of HP:0004258 (Small trapezoid bone)\n", + " \n", + " \n", + " Hypophosphaturia\n", + " definition of HP:0012365 (Hypophosphaturia)\n", + " \n", + " \n", + " An abnormally decreased phosphate concentration in the urine.\n", + " definition of HP:0012365 (Hypophosphaturia)\n", + " \n", + " \n", + " #Low urine phosphate levels\n", + " definition of HP:0012365 (Hypophosphaturia)\n", + " \n", + " \n", + " Reduced hepatic D-glycerate kinase activity\n", + " definition of HP:0034706 (Reduced hepatic D-glycerate kinase activity)\n", + " \n", + " \n", + " Activity of D-glycerate kinase in the liver below the lower limit of normal.\n", + " definition of HP:0034706 (Reduced hepatic D-glycerate kinase activity)\n", + " \n", + " \n", + " Congenital absence of portal vein\n", + " definition of HP:0031942 (Congenital absence of portal vein)\n", + " \n", + " \n", + " Anomaly where the intestinal and the splenic venous drainage bypass the liver and drain into systemic veins through other possible venous shunts.\n", + " definition of HP:0031942 (Congenital absence of portal vein)\n", + " \n", + " \n", + " #CAPV #Missing portal vein\n", + " definition of HP:0031942 (Congenital absence of portal vein)\n", + " \n", + " \n", + " Aplasia of the falx cerebri\n", + " definition of HP:0010654 (Aplasia of the falx cerebri)\n", + " \n", + " \n", + " A developmental defect characterized by aplasia of the Falx cerebri.\n", + " definition of HP:0010654 (Aplasia of the falx cerebri)\n", + " \n", + " \n", + " #Absent cerebral falx\n", + " definition of HP:0010654 (Aplasia of the falx cerebri)\n", + " \n", + " \n", + " Calcified pulmonary nodule\n", + " definition of HP:6000931 (Calcified pulmonary nodule)\n", + " \n", + " \n", + " A pulmonary nodule with calcium deposits. On radiography, these nodules appear dense.\n", + " definition of HP:6000931 (Calcified pulmonary nodule)\n", + " \n", + " \n", + " Complete duplication of the middle phalanx of the 4th finger\n", + " definition of HP:0009979 (Complete duplication of the middle phalanx of the 4th finger)\n", + " \n", + " \n", + " Complete duplication of the middle phalanx of ring finger.\n", + " definition of HP:0009979 (Complete duplication of the middle phalanx of the 4th finger)\n", + " \n", + " \n", + " #Complete duplication of the middle bone of the ring finger\n", + " definition of HP:0009979 (Complete duplication of the middle phalanx of the 4th finger)\n", + " \n", + " \n", + " Cone-shaped epiphysis of the proximal phalanx of the 3rd toe\n", + " definition of HP:0100159 (Cone-shaped epiphysis of the proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Cone-shaped end part of the innermost bone of the 3rd toe\n", + " definition of HP:0100159 (Cone-shaped epiphysis of the proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Focal impaired awareness emotional seizure with fear/anxiety/panic\n", + " definition of HP:0032752 (Focal impaired awareness emotional seizure with fear/anxiety/panic)\n", + " \n", + " \n", + " Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is partially or fully impaired at some point during the seizure.\n", + " definition of HP:0032752 (Focal impaired awareness emotional seizure with fear/anxiety/panic)\n", + " \n", + " \n", + " Early balding\n", + " definition of HP:0002234 (Early balding)\n", + " \n", + " \n", + " Loss of scalp hair at an earlier than normal age.\n", + " definition of HP:0002234 (Early balding)\n", + " \n", + " \n", + " #Early balding\n", + " definition of HP:0002234 (Early balding)\n", + " \n", + " \n", + " Anhidrotic ectodermal dysplasia\n", + " definition of HP:0007476 (Anhidrotic ectodermal dysplasia)\n", + " \n", + " \n", + " Bilirubinuria\n", + " definition of HP:0031811 (Bilirubinuria)\n", + " \n", + " \n", + " Presence of conjugated bilirubin in the urine.\n", + " definition of HP:0031811 (Bilirubinuria)\n", + " \n", + " \n", + " Compulsive stealing\n", + " definition of HP:5200337 (Compulsive stealing)\n", + " \n", + " \n", + " Irresistible impulses to take easily affordable items.\n", + " definition of HP:5200337 (Compulsive stealing)\n", + " \n", + " \n", + " #Kleptomania\n", + " definition of HP:5200337 (Compulsive stealing)\n", + " \n", + " \n", + " Broad humeral epiphyses\n", + " definition of HP:0003903 (Broad humeral epiphyses)\n", + " \n", + " \n", + " Increased width of the humeral epiphysis.\n", + " definition of HP:0003903 (Broad humeral epiphyses)\n", + " \n", + " \n", + " #Wide end part of long bone in upper arm #Wide humeral epiphyses\n", + " definition of HP:0003903 (Broad humeral epiphyses)\n", + " \n", + " \n", + " Reduced pancreatic beta cells\n", + " definition of HP:0006274 (Reduced pancreatic beta cells)\n", + " \n", + " \n", + " Reduced number of beta cells in the pancreatic islets of Langerhans.\n", + " definition of HP:0006274 (Reduced pancreatic beta cells)\n", + " \n", + " \n", + " Decreased tissue S-adenosylhomocysteine hydrolase activity\n", + " definition of HP:6000750 (Decreased tissue S-adenosylhomocysteine hydrolase activity)\n", + " \n", + " \n", + " Concentration or activity of S-adenosylhomocysteine hydrolase (EC 3.3.1.1) below the lower limit of normal. FECH enzyme can be measured in multiple tissues including erythrocytes and liver.\n", + " definition of HP:6000750 (Decreased tissue S-adenosylhomocysteine hydrolase activity)\n", + " \n", + " \n", + " Positive tissue encapsulated budding yeast test\n", + " definition of HP:6000964 (Positive tissue encapsulated budding yeast test)\n", + " \n", + " \n", + " Identification of encapsulated budding yeasts in smears of body fluids, secretions, exudates, or other specimens.\n", + " definition of HP:6000964 (Positive tissue encapsulated budding yeast test)\n", + " \n", + " \n", + " Abnormal growth plate morphology\n", + " definition of HP:0025368 (Abnormal growth plate morphology)\n", + " \n", + " \n", + " A structural anomaly of the growth plates (epiphyseal plates), areas of cartilage located near the ends of long bones that are located between the metaphysis (widened part of the shaft of the bone) and the epiphysis (end of the bone) and in which growth occurs in the developing bone. After conclusion of bone growth, the growth plates ossify (harden into solid bone).\n", + " definition of HP:0025368 (Abnormal growth plate morphology)\n", + " \n", + " \n", + " #Abnormality of growth plate morphology\n", + " definition of HP:0025368 (Abnormal growth plate morphology)\n", + " \n", + " \n", + " Abnormal optic disc morphology\n", + " definition of HP:0012795 (Abnormal optic disc morphology)\n", + " \n", + " \n", + " A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination.\n", + " definition of HP:0012795 (Abnormal optic disc morphology)\n", + " \n", + " \n", + " Abnormal T cell proliferation\n", + " definition of HP:0031379 (Abnormal T cell proliferation)\n", + " \n", + " \n", + " Any abnormality in the multiplication or reproduction of T cells, which results in the expansion of a cell population.\n", + " definition of HP:0031379 (Abnormal T cell proliferation)\n", + " \n", + " \n", + " Abnormality of the menstrual cycle\n", + " definition of HP:0000140 (Abnormality of the menstrual cycle)\n", + " \n", + " \n", + " An abnormality of the ovulation cycle.\n", + " definition of HP:0000140 (Abnormality of the menstrual cycle)\n", + " \n", + " \n", + " #Abnormality of the menstrual cycle\n", + " definition of HP:0000140 (Abnormality of the menstrual cycle)\n", + " \n", + " \n", + " Corticospinal tract atrophy\n", + " definition of HP:0007117 (Corticospinal tract atrophy)\n", + " \n", + " \n", + " Easy fatigability\n", + " definition of HP:0003388 (Easy fatigability)\n", + " \n", + " \n", + " Increased susceptibility to fatigue.\n", + " definition of HP:0003388 (Easy fatigability)\n", + " \n", + " \n", + " Bilateral camptodactyly\n", + " definition of HP:0005617 (Bilateral camptodactyly)\n", + " \n", + " \n", + " Palpitations\n", + " definition of HP:0001962 (Palpitations)\n", + " \n", + " \n", + " A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia.\n", + " definition of HP:0001962 (Palpitations)\n", + " \n", + " \n", + " #Heart palpitations #Missed heart beat #Palpitations #Skipped heart beat\n", + " definition of HP:0001962 (Palpitations)\n", + " \n", + " \n", + " Anal intraepithelial neoplasia\n", + " definition of HP:0032187 (Anal intraepithelial neoplasia)\n", + " \n", + " \n", + " Anal intraepithelial neoplasia (AIN) is a premalignant lesion of the anal mucosa that is a precursor to anal cancer.\n", + " definition of HP:0032187 (Anal intraepithelial neoplasia)\n", + " \n", + " \n", + " Prolonged neonatal jaundice\n", + " definition of HP:0006579 (Prolonged neonatal jaundice)\n", + " \n", + " \n", + " Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants.\n", + " definition of HP:0006579 (Prolonged neonatal jaundice)\n", + " \n", + " \n", + " #Neonatal jaundice #Prolonged yellowing of skin in newborn\n", + " definition of HP:0006579 (Prolonged neonatal jaundice)\n", + " \n", + " \n", + " History of recent anticoagulant ingestion\n", + " definition of HP:0034896 (History of recent anticoagulant ingestion)\n", + " \n", + " \n", + " Medical history of ingestion of anticoagulants prior to presentation.\n", + " definition of HP:0034896 (History of recent anticoagulant ingestion)\n", + " \n", + " \n", + " Decreased glucose-6-phosphate dehydrogenase level in leukocytes\n", + " definition of HP:0410190 (Decreased glucose-6-phosphate dehydrogenase level in leukocytes)\n", + " \n", + " \n", + " A decrease in the level of glucose-6-phosphate dehydrogenase in leukocytes.\n", + " definition of HP:0410190 (Decreased glucose-6-phosphate dehydrogenase level in leukocytes)\n", + " \n", + " \n", + " #Decreased G6PD level in leukocytes\n", + " definition of HP:0410190 (Decreased glucose-6-phosphate dehydrogenase level in leukocytes)\n", + " \n", + " \n", + " Arrhythmia\n", + " definition of HP:0011675 (Arrhythmia)\n", + " \n", + " \n", + " Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.\n", + " definition of HP:0011675 (Arrhythmia)\n", + " \n", + " \n", + " #Abnormal heart rate #Arrhythmias #Cardiac arrhythmia #Cardiac arrhythmias #Cardiac rhythm disturbances #Heart rhythm disorders #Irregular heart beat #Irregular heartbeat\n", + " definition of HP:0011675 (Arrhythmia)\n", + " \n", + " \n", + " Right isomerism\n", + " definition of HP:0031855 (Right isomerism)\n", + " \n", + " \n", + " A type of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal right-sided structures.\n", + " definition of HP:0031855 (Right isomerism)\n", + " \n", + " \n", + " #Right-sided isomerism\n", + " definition of HP:0031855 (Right isomerism)\n", + " \n", + " \n", + " Abnormal muscle tissue enzyme activity or level\n", + " definition of HP:0034510 (Abnormal muscle tissue enzyme activity or level)\n", + " \n", + " \n", + " Any deviation from the normal activity or histological staining of an enzyme in muscle tissue, usually measured in a muscle biopsy specimen.\n", + " definition of HP:0034510 (Abnormal muscle tissue enzyme activity or level)\n", + " \n", + " \n", + " Broad ribs\n", + " definition of HP:0000885 (Broad ribs)\n", + " \n", + " \n", + " Increased width of ribs\n", + " definition of HP:0000885 (Broad ribs)\n", + " \n", + " \n", + " #Broad ribs #Wide ribs\n", + " definition of HP:0000885 (Broad ribs)\n", + " \n", + " \n", + " Inappropriate antidiuretic hormone secretion\n", + " definition of HP:0031218 (Inappropriate antidiuretic hormone secretion)\n", + " \n", + " \n", + " A state of increased circulating antidiuretic hormone despite hyponatremia and hypo-osmolality with normal or increased plasma volume.\n", + " definition of HP:0031218 (Inappropriate antidiuretic hormone secretion)\n", + " \n", + " \n", + " #Inappropriate ADH secretion\n", + " definition of HP:0031218 (Inappropriate antidiuretic hormone secretion)\n", + " \n", + " \n", + " Talipes valgus\n", + " definition of HP:0004684 (Talipes valgus)\n", + " \n", + " \n", + " Outward turning of the heel, resulting in clubfoot with the person walking on the inner part of the foot.\n", + " definition of HP:0004684 (Talipes valgus)\n", + " \n", + " \n", + " Upper limb peromelia\n", + " definition of HP:0009814 (Upper limb peromelia)\n", + " \n", + " \n", + " Peromelia affecting only the upper limbs. That is, the distal parts of the arm are missing leading to stump formation.\n", + " definition of HP:0009814 (Upper limb peromelia)\n", + " \n", + " \n", + " Histiocytoma\n", + " definition of HP:0012315 (Histiocytoma)\n", + " \n", + " \n", + " A neoplasm containing histiocytes.\n", + " definition of HP:0012315 (Histiocytoma)\n", + " \n", + " \n", + " Postprandial hyperlactemia\n", + " definition of HP:0011997 (Postprandial hyperlactemia)\n", + " \n", + " \n", + " Abnormally increased level of blood lactate following a meal.\n", + " definition of HP:0011997 (Postprandial hyperlactemia)\n", + " \n", + " \n", + " Grade II vesicoureteral reflux\n", + " definition of HP:0033736 (Grade II vesicoureteral reflux)\n", + " \n", + " \n", + " Vesicoureteral reflux into a non-dilated pyelocalyceal system.\n", + " definition of HP:0033736 (Grade II vesicoureteral reflux)\n", + " \n", + " \n", + " #Grade II VUR #VUR II\n", + " definition of HP:0033736 (Grade II vesicoureteral reflux)\n", + " \n", + " \n", + " Bullet-shaped proximal toe phalanx\n", + " definition of HP:0010205 (Bullet-shaped proximal toe phalanx)\n", + " \n", + " \n", + " An abnormal morphology of one or more of the proximal phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.\n", + " definition of HP:0010205 (Bullet-shaped proximal toe phalanx)\n", + " \n", + " \n", + " #Bullet-shaped innermost toe bone #Bullet-shaped proximal phalanges of the toes #Bullet-shaped proximal phalanges of toe\n", + " definition of HP:0010205 (Bullet-shaped proximal toe phalanx)\n", + " \n", + " \n", + " Abnormal fetal heart outflow tract\n", + " definition of HP:4000143 (Abnormal fetal heart outflow tract)\n", + " \n", + " \n", + " A prenatal anomaly of the outflow tract. Fetal ultrasound may not always be able to easily and accurately describe the outflow anomaly, but can detect abnormal anatomy. Often, follow up with a fetal echo is recommended, but fetal ultrasound is limited.\n", + " definition of HP:4000143 (Abnormal fetal heart outflow tract)\n", + " \n", + " \n", + " Hemihypertrophy\n", + " definition of HP:0001528 (Hemihypertrophy)\n", + " \n", + " \n", + " Overgrowth of only one side of the body.\n", + " definition of HP:0001528 (Hemihypertrophy)\n", + " \n", + " \n", + " #Asymmetric limb hypertrophy #Asymmetric overgrowth\n", + " definition of HP:0001528 (Hemihypertrophy)\n", + " \n", + " \n", + " Elevated brain glycine level by MRS\n", + " definition of HP:0034893 (Elevated brain glycine level by MRS)\n", + " \n", + " \n", + " An increase in the level of glycine in the brain identified by magnetic resonance spectroscopy (MRS).\n", + " definition of HP:0034893 (Elevated brain glycine level by MRS)\n", + " \n", + " \n", + " Palmoplantar hypohidrosis\n", + " definition of HP:0034012 (Palmoplantar hypohidrosis)\n", + " \n", + " \n", + " Decreased sweating on the palms and soles.\n", + " definition of HP:0034012 (Palmoplantar hypohidrosis)\n", + " \n", + " \n", + " Atypical nevus\n", + " definition of HP:0001062 (Atypical nevus)\n", + " \n", + " \n", + " A large pigmented lesion measuring 5-15 mm in diameter with irregular, notched, and ill defined border and with color that may range from tan to dark brown to pink.\n", + " definition of HP:0001062 (Atypical nevus)\n", + " \n", + " \n", + " #Atypical mole\n", + " definition of HP:0001062 (Atypical nevus)\n", + " \n", + " \n", + " Dystopic os odontoideum\n", + " definition of HP:0040143 (Dystopic os odontoideum)\n", + " \n", + " \n", + " Os odontoideum is classified into two anatomic types (orthotopic and dystopic). Os odontoideum is defined as an ossicle that consists of smooth and separate caudal portions of the odontoid process. With orthotopic os odontoideum, the ossicle moves with the anterior arch of the atlas, while the dystopic type consists of an ossicle near the basion, or one that is fused with the clivus\n", + " definition of HP:0040143 (Dystopic os odontoideum)\n", + " \n", + " \n", + " PAX5 expression\n", + " definition of HP:0020295 (PAX5 expression)\n", + " \n", + " \n", + " Detection of the presence of PAX5 on the cell(s) of interest with the use of anti-PAX5 antibodies conjugated to a chromogen (for immunohistochemistry).\n", + " definition of HP:0020295 (PAX5 expression)\n", + " \n", + " \n", + " Focal T2 hyperintense thalamic lesion\n", + " definition of HP:0012692 (Focal T2 hyperintense thalamic lesion)\n", + " \n", + " \n", + " A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hyperintensity affecting a particular region of the thalamus.\n", + " definition of HP:0012692 (Focal T2 hyperintense thalamic lesion)\n", + " \n", + " \n", + " Low-to-normal blood pressure\n", + " definition of HP:0002632 (Low-to-normal blood pressure)\n", + " \n", + " \n", + " #Low-to-normal blood pressure #Low-to-normal BP\n", + " definition of HP:0002632 (Low-to-normal blood pressure)\n", + " \n", + " \n", + " Ruminations\n", + " definition of HP:0025771 (Ruminations)\n", + " \n", + " \n", + " Recurrent thoughts that have a thematic thread that is typically familiar to the individual and are often willfully brought forth or occur in the context of an anxious preoccupation or worry about a relevant concern which may be out of proportion to the context. Ruminations may be of normal thinking rate and are characterized by a recurring theme that usually has a negative connotation.\n", + " definition of HP:0025771 (Ruminations)\n", + " \n", + " \n", + " Recurrent Burkholderia cepacia infections\n", + " definition of HP:0002842 (Recurrent Burkholderia cepacia infections)\n", + " \n", + " \n", + " Increased susceptibility to infections with Burkholderia cepacia, as manifested by recurrent episodes of infection with this agent.\n", + " definition of HP:0002842 (Recurrent Burkholderia cepacia infections)\n", + " \n", + " \n", + " Curved distal phalanx of the 3rd finger\n", + " definition of HP:0009428 (Curved distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Curved appearance of the distal phalanx of the 3rd finger.\n", + " definition of HP:0009428 (Curved distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Curved outermost bone of the 3rd finger\n", + " definition of HP:0009428 (Curved distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Receptive language delay\n", + " definition of HP:0010863 (Receptive language delay)\n", + " \n", + " \n", + " A delay in the acquisition of the ability to understand the speech of others.\n", + " definition of HP:0010863 (Receptive language delay)\n", + " \n", + " \n", + " Absent glenoid fossa\n", + " definition of HP:0006591 (Absent glenoid fossa)\n", + " \n", + " \n", + " Lack of development of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus.\n", + " definition of HP:0006591 (Absent glenoid fossa)\n", + " \n", + " \n", + " #Aplasia of the glenoid fossa\n", + " definition of HP:0006591 (Absent glenoid fossa)\n", + " \n", + " \n", + " Congenital fibrosis of extraocular muscles\n", + " definition of HP:0001491 (Congenital fibrosis of extraocular muscles)\n", + " \n", + " \n", + " Congenital non-progressive ophthalmoplegia with multiple extraocular muscle restrictions. Typically, there is ptosis and variable degrees of restriction of horizontal and vertical eye movements.\n", + " definition of HP:0001491 (Congenital fibrosis of extraocular muscles)\n", + " \n", + " \n", + " #CFEOM #Congenital fibrosis of the extraocular muscles #Congenital ophthalmoplegia\n", + " definition of HP:0001491 (Congenital fibrosis of extraocular muscles)\n", + " \n", + " \n", + " Reduced circulating lactate dehydrogenase concentration\n", + " definition of HP:0045041 (Reduced circulating lactate dehydrogenase concentration)\n", + " \n", + " \n", + " Concentration of lactate dehydrogenase in the blood circulation below the lower limit of normal.\n", + " definition of HP:0045041 (Reduced circulating lactate dehydrogenase concentration)\n", + " \n", + " \n", + " Membranoproliferative glomerulonephritis\n", + " definition of HP:0000793 (Membranoproliferative glomerulonephritis)\n", + " \n", + " \n", + " A type of glomerulonephritis characterized by diffuse mesangial cell proliferation and the thickening of capillary walls due to subendothelial extension of the mesangium. The term membranoproliferative glomerulonephritis is often employed to denote a general pattern of glomerular injury seen in a variety of disease processes that share a common pathogenetic mechanism, rather than to describe a single disease entity\n", + " definition of HP:0000793 (Membranoproliferative glomerulonephritis)\n", + " \n", + " \n", + " #Mesangiocapillary glomerulonephritis #MPGN\n", + " definition of HP:0000793 (Membranoproliferative glomerulonephritis)\n", + " \n", + " \n", + " Abnormal blistering of the skin\n", + " definition of HP:0008066 (Abnormal blistering of the skin)\n", + " \n", + " \n", + " The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.\n", + " definition of HP:0008066 (Abnormal blistering of the skin)\n", + " \n", + " \n", + " #Abnormal blistering of the skin #Blister #Blistering, generalised #Blistering, generalized #Blisters #Skin bullae\n", + " definition of HP:0008066 (Abnormal blistering of the skin)\n", + " \n", + " \n", + " Anti-TRIM46 antibody\n", + " definition of HP:5000035 (Anti-TRIM46 antibody)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against the axon initial segment protein tripartite motif 46 (TRIM46).\n", + " definition of HP:5000035 (Anti-TRIM46 antibody)\n", + " \n", + " \n", + " Irregular tarsal bones\n", + " definition of HP:0004688 (Irregular tarsal bones)\n", + " \n", + " \n", + " #Abnormal shape of ankle bones\n", + " definition of HP:0004688 (Irregular tarsal bones)\n", + " \n", + " \n", + " Quadriceps muscle atrophy\n", + " definition of HP:0009050 (Quadriceps muscle atrophy)\n", + " \n", + " \n", + " Muscular atrophy involving the quadriceps muscle.\n", + " definition of HP:0009050 (Quadriceps muscle atrophy)\n", + " \n", + " \n", + " #Wasting of quad muscles\n", + " definition of HP:0009050 (Quadriceps muscle atrophy)\n", + " \n", + " \n", + " Cryptococcal meningitis\n", + " definition of HP:0032160 (Cryptococcal meningitis)\n", + " \n", + " \n", + " A type of fungal meningitis caused by an encapsulated yeast that belongs to the genus Cryptococcus. Cryptococcus neoformans and Cryptococcus gattii are responsible for the majority of cases of human cryptococcosis.\n", + " definition of HP:0032160 (Cryptococcal meningitis)\n", + " \n", + " \n", + " Apraxia\n", + " definition of HP:0002186 (Apraxia)\n", + " \n", + " \n", + " A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements.\n", + " definition of HP:0002186 (Apraxia)\n", + " \n", + " \n", + " Grade IV preterm intraventricular hemorrhage\n", + " definition of HP:0030751 (Grade IV preterm intraventricular hemorrhage)\n", + " \n", + " \n", + " Intraventricular hemorrhage that occurs in a preterm infant and that shows parenchymal extension.\n", + " definition of HP:0030751 (Grade IV preterm intraventricular hemorrhage)\n", + " \n", + " \n", + " #Grade IV preterm intraventricular haemorrhage\n", + " definition of HP:0030751 (Grade IV preterm intraventricular hemorrhage)\n", + " \n", + " \n", + " Proximally placed carpal bones\n", + " definition of HP:0004239 (Proximally placed carpal bones)\n", + " \n", + " \n", + " Maxillary cyst\n", + " definition of HP:6000594 (Maxillary cyst)\n", + " \n", + " \n", + " A closed sac that has developed in the upper jaw bone (maxilla) and contains fluid or semi-solid material. Cystic lesions of the maxilla are benign entities with both odontogenic and non-odontogenic origins.\n", + " definition of HP:6000594 (Maxillary cyst)\n", + " \n", + " \n", + " Respiratory insufficiency due to muscle weakness\n", + " definition of HP:0002747 (Respiratory insufficiency due to muscle weakness)\n", + " \n", + " \n", + " #Decreased lung function due to weak breathing muscles #Decreased respiratory function due to muscle weakness #Respiratory distress due to muscle weakness #Respiratory failure due to muscle weakness #Respiratory muscle weakness\n", + " definition of HP:0002747 (Respiratory insufficiency due to muscle weakness)\n", + " \n", + " \n", + " Distal femoral metaphyseal irregularity\n", + " definition of HP:0045079 (Distal femoral metaphyseal irregularity)\n", + " \n", + " \n", + " Irregularity of the normally smooth surface of the distal metaphysis of the femur.\n", + " definition of HP:0045079 (Distal femoral metaphyseal irregularity)\n", + " \n", + " \n", + " #Irregular distal femoral metaphyses\n", + " definition of HP:0045079 (Distal femoral metaphyseal irregularity)\n", + " \n", + " \n", + " Cleft in skull base\n", + " definition of HP:0009752 (Cleft in skull base)\n", + " \n", + " \n", + " A bony defect in the skull base.\n", + " definition of HP:0009752 (Cleft in skull base)\n", + " \n", + " \n", + " #Cleft in cranial base #Cleft in skull base\n", + " definition of HP:0009752 (Cleft in skull base)\n", + " \n", + " \n", + " Decreased size of nasopharyngeal adenoids\n", + " definition of HP:0040260 (Decreased size of nasopharyngeal adenoids)\n", + " \n", + " \n", + " An abnormal decrease in the size of nasopharyngeal adenoids.\n", + " definition of HP:0040260 (Decreased size of nasopharyngeal adenoids)\n", + " \n", + " \n", + " Ring fibers\n", + " definition of HP:0100305 (Ring fibers)\n", + " \n", + " \n", + " Ring fibers are formed by a bundle of peripheral myofibrils which are circumferentially oriented such that they encircle the internal portion of the sarcoplasm which is normal in structure and orientation.\n", + " definition of HP:0100305 (Ring fibers)\n", + " \n", + " \n", + " #Ring fibres\n", + " definition of HP:0100305 (Ring fibers)\n", + " \n", + " \n", + " Partial duplication of the distal phalanx of the 5th finger\n", + " definition of HP:0009994 (Partial duplication of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " Partial duplication of the distal phalanx of little finger, seen on x-rays as a broad and/or bifid phalanx.\n", + " definition of HP:0009994 (Partial duplication of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " #Bifid terminal phalanx of the 5th finger #Notched outermost pinky finger bone #Partial duplication of outermost little finger bone #Partial duplication of outermost pinkie finger bone #Partial duplication of outermost pinky finger bone\n", + " definition of HP:0009994 (Partial duplication of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " Abnormal sex hormone-binding globulin level\n", + " definition of HP:0031438 (Abnormal sex hormone-binding globulin level)\n", + " \n", + " \n", + " A deviation from the normal concentration in the circulation of sex hormone-binding globulin, a circulating glycoprotein that transports testosterone and other steroids in the blood.\n", + " definition of HP:0031438 (Abnormal sex hormone-binding globulin level)\n", + " \n", + " \n", + " Fractured metaphysis of femur\n", + " definition of HP:0041114 (Fractured metaphysis of femur)\n", + " \n", + " \n", + " A partial or complete breakage of the metaphysis of femur.\n", + " definition of HP:0041114 (Fractured metaphysis of femur)\n", + " \n", + " \n", + " #bone metaphysis of femur\n", + " definition of HP:0041114 (Fractured metaphysis of femur)\n", + " \n", + " \n", + " Renal interstitial calcium oxalate\n", + " definition of HP:0032587 (Renal interstitial calcium oxalate)\n", + " \n", + " \n", + " The presence of birefringent calcium- and oxalate deposits in interstitial cells of the kidney.\n", + " definition of HP:0032587 (Renal interstitial calcium oxalate)\n", + " \n", + " \n", + " Positive CSF West Nile virus nucleic acid test\n", + " definition of HP:6000759 (Positive CSF West Nile virus nucleic acid test)\n", + " \n", + " \n", + " Detection of West Nile virus nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR.\n", + " definition of HP:6000759 (Positive CSF West Nile virus nucleic acid test)\n", + " \n", + " \n", + " Calcification of the auricular cartilage\n", + " definition of HP:0005103 (Calcification of the auricular cartilage)\n", + " \n", + " \n", + " Ossification affecting the external ear cartilage.\n", + " definition of HP:0005103 (Calcification of the auricular cartilage)\n", + " \n", + " \n", + " #Cartilaginous ossification of pinnae #Ossification of pinnae #Petrified ear\n", + " definition of HP:0005103 (Calcification of the auricular cartilage)\n", + " \n", + " \n", + " Oral aversion\n", + " definition of HP:0012523 (Oral aversion)\n", + " \n", + " \n", + " Reluctance or refusal of a child to be breastfed or eat, manifested as gagging, vomiting, turning head away from food, or avoidance of sensation in or around the mouth (i.e. toothbrushing or face-washing).\n", + " definition of HP:0012523 (Oral aversion)\n", + " \n", + " \n", + " Sparse scalp hair\n", + " definition of HP:0002209 (Sparse scalp hair)\n", + " \n", + " \n", + " Decreased number of hairs per unit area of skin of the scalp.\n", + " definition of HP:0002209 (Sparse scalp hair)\n", + " \n", + " \n", + " #Decreased number of scalp follicles #Hypotrichosis on scalp #Reduced amount of scalp hair #Reduced/lack of hair on scalp #Reduction in the number of scalp follicles #Scalp hypotrichosis #Sparse scalp hair #Thinning scalp hair\n", + " definition of HP:0002209 (Sparse scalp hair)\n", + " \n", + " \n", + " Abnormal knee physiology\n", + " definition of HP:0034670 (Abnormal knee physiology)\n", + " \n", + " \n", + " A functional anomaly of the knee joint.\n", + " definition of HP:0034670 (Abnormal knee physiology)\n", + " \n", + " \n", + " Herniation of intervertebral nuclei\n", + " definition of HP:0008441 (Herniation of intervertebral nuclei)\n", + " \n", + " \n", + " The presence of one or more herniated nucleus pulposus of intervertebral disk.\n", + " definition of HP:0008441 (Herniation of intervertebral nuclei)\n", + " \n", + " \n", + " #Herniated intervertebral nuclei\n", + " definition of HP:0008441 (Herniation of intervertebral nuclei)\n", + " \n", + " \n", + " Sarcomatoid carcinoma of the tongue\n", + " definition of HP:0030415 (Sarcomatoid carcinoma of the tongue)\n", + " \n", + " \n", + " Sarcomatoid (spindle cell) carcinomas of the tongue is a variant of squamous carcinoma of tongue that is monoclonal, having evolved from a conventional squamous carcinoma with dedifferentiation associated with sarcomatoid transformation.\n", + " definition of HP:0030415 (Sarcomatoid carcinoma of the tongue)\n", + " \n", + " \n", + " #Spindle cell carcinoma of the tongue\n", + " definition of HP:0030415 (Sarcomatoid carcinoma of the tongue)\n", + " \n", + " \n", + " Abnormal circulating interleukin 21 concentration\n", + " definition of HP:0034164 (Abnormal circulating interleukin 21 concentration)\n", + " \n", + " \n", + " Any deviation from the normal range of the concentration of interleukin 21 in the blood circulation.\n", + " definition of HP:0034164 (Abnormal circulating interleukin 21 concentration)\n", + " \n", + " \n", + " Patchy sclerosis of proximal phalanx of finger\n", + " definition of HP:0009856 (Patchy sclerosis of proximal phalanx of finger)\n", + " \n", + " \n", + " Uneven increase in bone density of the proximal phalanges of the hand.\n", + " definition of HP:0009856 (Patchy sclerosis of proximal phalanx of finger)\n", + " \n", + " \n", + " #Patchy sclerosis of the proximal phalanges of the hand #Uneven increase in bone density in innermost finger bone\n", + " definition of HP:0009856 (Patchy sclerosis of proximal phalanx of finger)\n", + " \n", + " \n", + " Abnormal reproductive system morphology\n", + " definition of HP:0012243 (Abnormal reproductive system morphology)\n", + " \n", + " \n", + " A structural or developmental anomaly of any of the tissues involved in the genital system.\n", + " definition of HP:0012243 (Abnormal reproductive system morphology)\n", + " \n", + " \n", + " #Abnormal genital system morphology\n", + " definition of HP:0012243 (Abnormal reproductive system morphology)\n", + " \n", + " \n", + " Diffuse pulmonary lymphoid hyperplasia\n", + " definition of HP:0034824 (Diffuse pulmonary lymphoid hyperplasia)\n", + " \n", + " \n", + " Diffuse lymphoid hyperplasia (DLH) describes the pathological entity that lies between follicular bronchiolitis and lymphocytic interstitial pneumonia (LIP). It is pathologically characterized by a diffuse peribronchiolar proliferation of hyperplastic lymphoid follicles (BALT), extended along the lymphatics to involve the interlobular septa and pleura. Unlike LIP, DHL does not show uniform involvement of the alveolar septa.\n", + " definition of HP:0034824 (Diffuse pulmonary lymphoid hyperplasia)\n", + " \n", + " \n", + " Abnormal dentate nucleus morphology\n", + " definition of HP:0100321 (Abnormal dentate nucleus morphology)\n", + " \n", + " \n", + " An abnormality of the dentate nucleus.\n", + " definition of HP:0100321 (Abnormal dentate nucleus morphology)\n", + " \n", + " \n", + " #Abnormality of the dentate nucleus\n", + " definition of HP:0100321 (Abnormal dentate nucleus morphology)\n", + " \n", + " \n", + " Impaired neck-righting reflex\n", + " definition of HP:0033330 (Impaired neck-righting reflex)\n", + " \n", + " \n", + " Abnormal neck-righting response, which is said to be a physiological response when a child is placed flat on his or her back and the head is turned 90 degrees to the right or the left. With a normal neck-righting response, there follows a reflected torsion of the vertebral column in the same direction as the induced rotation of the neck. That is, the whole body follows the direction in which the head was turned. The response is present from birth to the age of five years.\n", + " definition of HP:0033330 (Impaired neck-righting reflex)\n", + " \n", + " \n", + " Glycogen accumulation in muscle fiber lysosomes\n", + " definition of HP:0030231 (Glycogen accumulation in muscle fiber lysosomes)\n", + " \n", + " \n", + " An increased amount of glycogen in muscle tissue found specifically in lysosomes.\n", + " definition of HP:0030231 (Glycogen accumulation in muscle fiber lysosomes)\n", + " \n", + " \n", + " #Glycogen accumulation in muscle fibre lysosomes\n", + " definition of HP:0030231 (Glycogen accumulation in muscle fiber lysosomes)\n", + " \n", + " \n", + " Fetal phenytoin exposure\n", + " definition of HP:0034853 (Fetal phenytoin exposure)\n", + " \n", + " \n", + " A history of exposure during pregnancy of the mother of a fetus or child to phenytoin.\n", + " definition of HP:0034853 (Fetal phenytoin exposure)\n", + " \n", + " \n", + " #Maternal phenytoin exposure #Phenytoin exposure during gestation\n", + " definition of HP:0034853 (Fetal phenytoin exposure)\n", + " \n", + " \n", + " Atonic seizure\n", + " definition of HP:0010819 (Atonic seizure)\n", + " \n", + " \n", + " Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature.\n", + " definition of HP:0010819 (Atonic seizure)\n", + " \n", + " \n", + " #Astatic seizure #Astatic seizures #Atonic seizures #Drop attacks #Drop seizures #Hypotonic seizure\n", + " definition of HP:0010819 (Atonic seizure)\n", + " \n", + " \n", + " Anti-contactin-associated protein 1 antibody positivity\n", + " definition of HP:0034138 (Anti-contactin-associated protein 1 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-contactin-associated protein 1.\n", + " definition of HP:0034138 (Anti-contactin-associated protein 1 antibody positivity)\n", + " \n", + " \n", + " #Anti-CASPR1 antibody positivity\n", + " definition of HP:0034138 (Anti-contactin-associated protein 1 antibody positivity)\n", + " \n", + " \n", + " Steroid-resistant nephrotic syndrome\n", + " definition of HP:0012588 (Steroid-resistant nephrotic syndrome)\n", + " \n", + " \n", + " A form of nephrotic syndrome that does not respond to treatment with steroid medication, defined as persistent proteinuria despite 60mg/m2 or 2mg/kg for 8 weeks, after insuring no infection or non-adherence to medication.\n", + " definition of HP:0012588 (Steroid-resistant nephrotic syndrome)\n", + " \n", + " \n", + " #SRNS\n", + " definition of HP:0012588 (Steroid-resistant nephrotic syndrome)\n", + " \n", + " \n", + " Disordered formal thought process\n", + " definition of HP:0025769 (Disordered formal thought process)\n", + " \n", + " \n", + " An abnormality in the dynamic mode, rate, or form of thought processes as recognized from the flow of ideas expressed in speech. Successive thoughts and speech are easily diverted by external stimuli or internal superficial associations. Unable to maintain a constant train of thought and loose themselves in side issues, losing the thread and are unable to recover it. Superficial connections appear to drive the subject matter.\n", + " definition of HP:0025769 (Disordered formal thought process)\n", + " \n", + " \n", + " #Disordered formal thought process #Formal thought disorder\n", + " definition of HP:0025769 (Disordered formal thought process)\n", + " \n", + " \n", + " Consecutive exotropia\n", + " definition of HP:0031718 (Consecutive exotropia)\n", + " \n", + " \n", + " Exotropia in an individual who has previously had esotropia or esophoria.\n", + " definition of HP:0031718 (Consecutive exotropia)\n", + " \n", + " \n", + " Agenesis of permanent maxillary central incisor\n", + " definition of HP:0011045 (Agenesis of permanent maxillary central incisor)\n", + " \n", + " \n", + " Agenesis of upper secondary incisor.\n", + " definition of HP:0011045 (Agenesis of permanent maxillary central incisor)\n", + " \n", + " \n", + " #Agenesis of adult maxillary central incisor #Failure of development of permanent maxillary central incisor\n", + " definition of HP:0011045 (Agenesis of permanent maxillary central incisor)\n", + " \n", + " \n", + " Abnormality of the anterior pituitary\n", + " definition of HP:0011747 (Abnormality of the anterior pituitary)\n", + " \n", + " \n", + " An abnormality of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland.\n", + " definition of HP:0011747 (Abnormality of the anterior pituitary)\n", + " \n", + " \n", + " Transverse smile\n", + " definition of HP:6000864 (Transverse smile)\n", + " \n", + " \n", + " Inability to raise the corners of the mouth during the act of smiling due to facial muscle weakness. The act of smiling is accompanied by a horizontal movement of the mouth.\n", + " definition of HP:6000864 (Transverse smile)\n", + " \n", + " \n", + " Overweight\n", + " definition of HP:0025502 (Overweight)\n", + " \n", + " \n", + " Increased body weight with a body mass index of 25-29.9 kg per square meter.\n", + " definition of HP:0025502 (Overweight)\n", + " \n", + " \n", + " Elevated brain glutamine level by MRS\n", + " definition of HP:0034495 (Elevated brain glutamine level by MRS)\n", + " \n", + " \n", + " An increased in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS).\n", + " definition of HP:0034495 (Elevated brain glutamine level by MRS)\n", + " \n", + " \n", + " Puberty and gonadal disorders\n", + " definition of HP:0008373 (Puberty and gonadal disorders)\n", + " \n", + " \n", + " #Puberty and gonadal disorders\n", + " definition of HP:0008373 (Puberty and gonadal disorders)\n", + " \n", + " \n", + " Aceruloplasminemia\n", + " definition of HP:0025498 (Aceruloplasminemia)\n", + " \n", + " \n", + " Absence of ceruloplasmin in the blood.\n", + " definition of HP:0025498 (Aceruloplasminemia)\n", + " \n", + " \n", + " #Aceruloplasminaemia\n", + " definition of HP:0025498 (Aceruloplasminemia)\n", + " \n", + " \n", + " Asymmetry of the size of ears\n", + " definition of HP:0040091 (Asymmetry of the size of ears)\n", + " \n", + " \n", + " #Asymmetry of the size of ears\n", + " definition of HP:0040091 (Asymmetry of the size of ears)\n", + " \n", + " \n", + " Spinocerebellar atrophy\n", + " definition of HP:0007263 (Spinocerebellar atrophy)\n", + " \n", + " \n", + " Atrophy affecting the cerebellum and the spinocerebellar tracts of the spinal cord.\n", + " definition of HP:0007263 (Spinocerebellar atrophy)\n", + " \n", + " \n", + " Metopic depression\n", + " definition of HP:0011223 (Metopic depression)\n", + " \n", + " \n", + " Linear vertical groove in the midline of the forehead, extending from hairline to glabella.\n", + " definition of HP:0011223 (Metopic depression)\n", + " \n", + " \n", + " #Depression of frontal cranial suture #Depression of metopic cranial suture #Frontal suture depression\n", + " definition of HP:0011223 (Metopic depression)\n", + " \n", + " \n", + " Pruritis on breast\n", + " definition of HP:0030901 (Pruritis on breast)\n", + " \n", + " \n", + " Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the breast.\n", + " definition of HP:0030901 (Pruritis on breast)\n", + " \n", + " \n", + " Molluscum contagiosum\n", + " definition of HP:0032163 (Molluscum contagiosum)\n", + " \n", + " \n", + " Molluscum contagiosum is a cutaneous viral infection that is commonly observed in both healthy and immunocompromised children. The infection is caused by a member of the Poxviridae family, the molluscum contagiosum virus. Molluscum contagiosum presents as single or multiple small white or flesh-colored papules that typically have a central umbilication. The central umbilication may be difficult to observe in young children and, instead, may bear an appearance similar to an acneiform eruption. The lesions vary in size (from 1 mm to 1 cm in diameter) and are painless, although a subset of patients report pruritus in the area of infection. On average, 11-20 papules appear on the body during the course of infection and generally remains a self-limiting disease. However, in immunosuppressed patients, molluscum contagiosum can be a severe infection with hundreds of lesions developing on the body. Extensive eruption is indicative of an advanced immunodeficiency state.\n", + " definition of HP:0032163 (Molluscum contagiosum)\n", + " \n", + " \n", + " Midline defect of mandible\n", + " definition of HP:0010753 (Midline defect of mandible)\n", + " \n", + " \n", + " #Midline cleft of mandible\n", + " definition of HP:0010753 (Midline defect of mandible)\n", + " \n", + " \n", + " Fluctuating hepatomegaly\n", + " definition of HP:0006564 (Fluctuating hepatomegaly)\n", + " \n", + " \n", + " Intermittently increased size of the liver.\n", + " definition of HP:0006564 (Fluctuating hepatomegaly)\n", + " \n", + " \n", + " Increased cystatin C level\n", + " definition of HP:0032998 (Increased cystatin C level)\n", + " \n", + " \n", + " A elevated concentration of cystatin C in the blood circulation.\n", + " definition of HP:0032998 (Increased cystatin C level)\n", + " \n", + " \n", + " Abnormal penis morphology\n", + " definition of HP:0000036 (Abnormal penis morphology)\n", + " \n", + " \n", + " Abnormality of the male external sex organ.\n", + " definition of HP:0000036 (Abnormal penis morphology)\n", + " \n", + " \n", + " #Abnormality of the penis\n", + " definition of HP:0000036 (Abnormal penis morphology)\n", + " \n", + " \n", + " Partial duplication of the distal phalanx of the 5th toe\n", + " definition of HP:0100418 (Partial duplication of the distal phalanx of the 5th toe)\n", + " \n", + " \n", + " Partial duplication of the distal phalanx of little toe.\n", + " definition of HP:0100418 (Partial duplication of the distal phalanx of the 5th toe)\n", + " \n", + " \n", + " #Partial duplication of the distal phalanx of the fifth toe #Partial duplication of the outermost bone of the fifth toe #Partial duplication of the outermost bone of the little toe #Partial duplication of the outermost bone of the pinkie toe #Partial duplication of the outermost bone of the pinky toe\n", + " definition of HP:0100418 (Partial duplication of the distal phalanx of the 5th toe)\n", + " \n", + " \n", + " Vertebral segmentation defect\n", + " definition of HP:0003422 (Vertebral segmentation defect)\n", + " \n", + " \n", + " An abnormality related to a defect of vertebral separation during development.\n", + " definition of HP:0003422 (Vertebral segmentation defect)\n", + " \n", + " \n", + " #Abnormal spinal segmentation\n", + " definition of HP:0003422 (Vertebral segmentation defect)\n", + " \n", + " \n", + " Astrocytosis\n", + " definition of HP:0002446 (Astrocytosis)\n", + " \n", + " \n", + " Proliferation of astrocytes in the area of a lesion of the central nervous system.\n", + " definition of HP:0002446 (Astrocytosis)\n", + " \n", + " \n", + " Congenital adrenal hyperplasia\n", + " definition of HP:0008258 (Congenital adrenal hyperplasia)\n", + " \n", + " \n", + " A type of adrenal hyperplasia with congenital onset.\n", + " definition of HP:0008258 (Congenital adrenal hyperplasia)\n", + " \n", + " \n", + " Tyrosinuria\n", + " definition of HP:0033091 (Tyrosinuria)\n", + " \n", + " \n", + " An abnormally increased level of tyrosine in the urine.\n", + " definition of HP:0033091 (Tyrosinuria)\n", + " \n", + " \n", + " #Increased tyrosine in urine\n", + " definition of HP:0033091 (Tyrosinuria)\n", + " \n", + " \n", + " Malformed lacrimal duct\n", + " definition of HP:0007993 (Malformed lacrimal duct)\n", + " \n", + " \n", + " Congenital malformation of the lacrimal duct associated with incomplete development of the bony nasolacrimal canal or craniofacial anomalies.\n", + " definition of HP:0007993 (Malformed lacrimal duct)\n", + " \n", + " \n", + " #Malformed tear ducts\n", + " definition of HP:0007993 (Malformed lacrimal duct)\n", + " \n", + " \n", + " Iliac artery aneurysm\n", + " definition of HP:4000067 (Iliac artery aneurysm)\n", + " \n", + " \n", + " Abnormal outpouching or sac-like dilatation in the iliac artery.\n", + " definition of HP:4000067 (Iliac artery aneurysm)\n", + " \n", + " \n", + " Loss of ability to walk in early childhood\n", + " definition of HP:0008945 (Loss of ability to walk in early childhood)\n", + " \n", + " \n", + " Increased CSF uracil concentration\n", + " definition of HP:0034460 (Increased CSF uracil concentration)\n", + " \n", + " \n", + " An increased level of uracil in the cerebrospinal fluid.\n", + " definition of HP:0034460 (Increased CSF uracil concentration)\n", + " \n", + " \n", + " Transient decreased circulating IgD\n", + " definition of HP:0033017 (Transient decreased circulating IgD)\n", + " \n", + " \n", + " A temporary reduction beneath the normal level of total immunoglobulin D (IgD) in the blood circulation.\n", + " definition of HP:0033017 (Transient decreased circulating IgD)\n", + " \n", + " \n", + " #Transient decreased IgD in blood\n", + " definition of HP:0033017 (Transient decreased circulating IgD)\n", + " \n", + " \n", + " Chronic calcifying pancreatitis\n", + " definition of HP:0005236 (Chronic calcifying pancreatitis)\n", + " \n", + " \n", + " A form of chronic pancreatitis that is characterized by calcification.\n", + " definition of HP:0005236 (Chronic calcifying pancreatitis)\n", + " \n", + " \n", + " Decreased urinary copper concentration\n", + " definition of HP:0045035 (Decreased urinary copper concentration)\n", + " \n", + " \n", + " #Decreased urinary copper concentration\n", + " definition of HP:0045035 (Decreased urinary copper concentration)\n", + " \n", + " \n", + " Stomatocytosis\n", + " definition of HP:0004446 (Stomatocytosis)\n", + " \n", + " \n", + " The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear.\n", + " definition of HP:0004446 (Stomatocytosis)\n", + " \n", + " \n", + " #erythrocyte stomatocytes #Red cell stomatocytosis\n", + " definition of HP:0004446 (Stomatocytosis)\n", + " \n", + " \n", + " Abnormal larynx morphology\n", + " definition of HP:0025423 (Abnormal larynx morphology)\n", + " \n", + " \n", + " Any anomaly of the structure of the larynx.\n", + " definition of HP:0025423 (Abnormal larynx morphology)\n", + " \n", + " \n", + " Persistent head lag\n", + " definition of HP:0032988 (Persistent head lag)\n", + " \n", + " \n", + " The Premie-Neuro and the Dubowitz Neurological Examination score head lag in the same manner. Scoring for both is as follows: 0 = head drops and stays back, 1 = tries to lift head but drops it back, 2 = able to lift head slightly, 3 = lifts head in line with body, and 4 = head in front of body. This term applies if head lag persists beyond an expected age at a level of 0 or 1. Persistent head lag beyond age 4 mo has been linked to poor outcomes.\n", + " definition of HP:0032988 (Persistent head lag)\n", + " \n", + " \n", + " #Head lag #Headlag\n", + " definition of HP:0032988 (Persistent head lag)\n", + " \n", + " \n", + " Abnormal nasal bridge morphology\n", + " definition of HP:0000422 (Abnormal nasal bridge morphology)\n", + " \n", + " \n", + " Abnormality of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. It lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi.\n", + " definition of HP:0000422 (Abnormal nasal bridge morphology)\n", + " \n", + " \n", + " #Abnormality of the bridge of the nose #Abnormality of the nasal bridge #Abnormality of the nasal root\n", + " definition of HP:0000422 (Abnormal nasal bridge morphology)\n", + " \n", + " \n", + " Arcuate vein intimal mucoid edema\n", + " definition of HP:0033880 (Arcuate vein intimal mucoid edema)\n", + " \n", + " \n", + " Accumulation of edematous extracellular matrix in the inner layer (intima) of arcuate veins of the kidney. The material resembles mucus and appears pale blue on hematoxylin and eosin staining.\n", + " definition of HP:0033880 (Arcuate vein intimal mucoid edema)\n", + " \n", + " \n", + " #Intimal mucoid edema within arcuate veins #Intimal mucoid oedema within arcuate veins\n", + " definition of HP:0033880 (Arcuate vein intimal mucoid edema)\n", + " \n", + " \n", + " Abnormal urine pH\n", + " definition of HP:0032943 (Abnormal urine pH)\n", + " \n", + " \n", + " A deviation of urine pH from the normal range of 4.5 to 7.8.\n", + " definition of HP:0032943 (Abnormal urine pH)\n", + " \n", + " \n", + " Anterior chamber flare grade 4+\n", + " definition of HP:0031621 (Anterior chamber flare grade 4+)\n", + " \n", + " \n", + " Intense anterior chamber flare (fibrin/plastic aqueous).\n", + " definition of HP:0031621 (Anterior chamber flare grade 4+)\n", + " \n", + " \n", + " Progressive spastic paraparesis\n", + " definition of HP:0007199 (Progressive spastic paraparesis)\n", + " \n", + " \n", + " Insidious onset\n", + " definition of HP:0003587 (Insidious onset)\n", + " \n", + " \n", + " Gradual, very slow onset of disease manifestations.\n", + " definition of HP:0003587 (Insidious onset)\n", + " \n", + " \n", + " #Gradual onset\n", + " definition of HP:0003587 (Insidious onset)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the phalanges of the 5th toe\n", + " definition of HP:0010383 (Aplasia/Hypoplasia of the phalanges of the 5th toe)\n", + " \n", + " \n", + " #Absent/small little toe bones #Absent/small pinkie toe bones #Absent/small pinky toe bones #Absent/underdeveloped pinky toe bones\n", + " definition of HP:0010383 (Aplasia/Hypoplasia of the phalanges of the 5th toe)\n", + " \n", + " \n", + " Mydriasis\n", + " definition of HP:0011499 (Mydriasis)\n", + " \n", + " \n", + " Abnormal dilatation of the iris.\n", + " definition of HP:0011499 (Mydriasis)\n", + " \n", + " \n", + " #Dilated pupil\n", + " definition of HP:0011499 (Mydriasis)\n", + " \n", + " \n", + " Downslanted palpebral fissures\n", + " definition of HP:0000494 (Downslanted palpebral fissures)\n", + " \n", + " \n", + " The palpebral fissure inclination is more than two standard deviations below the mean.\n", + " definition of HP:0000494 (Downslanted palpebral fissures)\n", + " \n", + " \n", + " #Antimongoloid eye slant #Antimongoloid slant of palpebral fissures #Antimongoloid slanted palpebral fissures #Down slanting palpebral fissures #Down-slanted palpebral fissures #Down-slanting palpebral fissure #Down-slanting palpebral fissures #Downslanting palpebral fissure #Downslanting palpebral fissures #Downward slanted palpebral fissures #Downward slanting of the opening between the eyelids #Downward slanting palpebral fissures #Downward-slanting palpebral fissures #Palpebral fissures down-slanted\n", + " definition of HP:0000494 (Downslanted palpebral fissures)\n", + " \n", + " \n", + " Lozenge-shaped umbilicus\n", + " definition of HP:0032277 (Lozenge-shaped umbilicus)\n", + " \n", + " \n", + " Absent thoracic vertebra\n", + " definition of HP:0031176 (Absent thoracic vertebra)\n", + " \n", + " \n", + " A developmental defect characterized by agenesis of one or more vertebral bodies of the thoracic spine.\n", + " definition of HP:0031176 (Absent thoracic vertebra)\n", + " \n", + " \n", + " Myocardial calcification\n", + " definition of HP:0006690 (Myocardial calcification)\n", + " \n", + " \n", + " Calcium deposition in the myocardium.\n", + " definition of HP:0006690 (Myocardial calcification)\n", + " \n", + " \n", + " #Calcified myocardium\n", + " definition of HP:0006690 (Myocardial calcification)\n", + " \n", + " \n", + " Quadruple gallop rhythm\n", + " definition of HP:0033114 (Quadruple gallop rhythm)\n", + " \n", + " \n", + " A type of gallop rhythm in which both the third and the fourth sounds are present.\n", + " definition of HP:0033114 (Quadruple gallop rhythm)\n", + " \n", + " \n", + " Complete heart block with narrow QRS complexes\n", + " definition of HP:0005178 (Complete heart block with narrow QRS complexes)\n", + " \n", + " \n", + " A type of third degree heart block in which the escape rhythm arises at the atrioventricular node, which produces a narrow QRS complex.\n", + " definition of HP:0005178 (Complete heart block with narrow QRS complexes)\n", + " \n", + " \n", + " Meromelia\n", + " definition of HP:0030728 (Meromelia)\n", + " \n", + " \n", + " Partial absence of a free limb (excluding girdle). It can refer to the proximal, middle or distal segment of the upper or lower limb. The deficiency may be transverse or longitudinal. Thus, meromelia is a lack of a part, but not all, of one or more limbs with the presence of a hand or foot.\n", + " definition of HP:0030728 (Meromelia)\n", + " \n", + " \n", + " Eosinophilia\n", + " definition of HP:0001880 (Eosinophilia)\n", + " \n", + " \n", + " Increased count of eosinophils in the blood.\n", + " definition of HP:0001880 (Eosinophilia)\n", + " \n", + " \n", + " #High blood eosinophil count\n", + " definition of HP:0001880 (Eosinophilia)\n", + " \n", + " \n", + " Bullet-shaped phalanges of the 5th finger\n", + " definition of HP:0009375 (Bullet-shaped phalanges of the 5th finger)\n", + " \n", + " \n", + " A fifth finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.\n", + " definition of HP:0009375 (Bullet-shaped phalanges of the 5th finger)\n", + " \n", + " \n", + " #Bullet-shaped little finger bones #Bullet-shaped pinkie finger bones #Bullet-shaped pinky finger bones\n", + " definition of HP:0009375 (Bullet-shaped phalanges of the 5th finger)\n", + " \n", + " \n", + " Congenital absence of skin of limbs\n", + " definition of HP:0007506 (Congenital absence of skin of limbs)\n", + " \n", + " \n", + " #Missing skin on limbs since birth\n", + " definition of HP:0007506 (Congenital absence of skin of limbs)\n", + " \n", + " \n", + " Autotopagnosia\n", + " definition of HP:5200413 (Autotopagnosia)\n", + " \n", + " \n", + " The loss of the ability to localize, recognize, or identify specific parts of one's body.\n", + " definition of HP:5200413 (Autotopagnosia)\n", + " \n", + " \n", + " Delayed scintigraphic gallbladder filling\n", + " definition of HP:6000378 (Delayed scintigraphic gallbladder filling)\n", + " \n", + " \n", + " Hepatobiliary scintigraphy is a nuclear imaging technique that permits evaluation of the liver and biliary system for acute and chronic cholecystitis, biliary atresia, biliary obstruction, and post-surgical biliary leak. With this investigation, a radiotracer is administered intravenously, bound to albumin, transported to the liver, and excreted into the biliary system. This term refers to a longer than normal time for the radiotracer to be visualized in the gallbladder. This finding may be a sign of chronic gallbladder disease or partial obstruction of the common bile duct.\n", + " definition of HP:6000378 (Delayed scintigraphic gallbladder filling)\n", + " \n", + " \n", + " Abnormal postural reflex\n", + " definition of HP:0033329 (Abnormal postural reflex)\n", + " \n", + " \n", + " Anomaly of the physiological response to maintain the body's posture when movement and position is altered.\n", + " definition of HP:0033329 (Abnormal postural reflex)\n", + " \n", + " \n", + " #Abnormal postural reaction\n", + " definition of HP:0033329 (Abnormal postural reflex)\n", + " \n", + " \n", + " Cerebellar glioma\n", + " definition of HP:0010795 (Cerebellar glioma)\n", + " \n", + " \n", + " A glioma affecting the cerebellum.\n", + " definition of HP:0010795 (Cerebellar glioma)\n", + " \n", + " \n", + " Pulmonary parenchymal band\n", + " definition of HP:0033650 (Pulmonary parenchymal band)\n", + " \n", + " \n", + " A parenchymal band is a linear opacity, usually 1-3 mm thick and up to 5 cm long that usually extends to the visceral pleura (which is often thickened and may be retracted at the site of contact). It reflects pleuroparenchymal fibrosis and is usually associated with distortion of the lung architecture. Parenchymal bands are most frequently encountered in individuals who have been exposed to asbestos.\n", + " definition of HP:0033650 (Pulmonary parenchymal band)\n", + " \n", + " \n", + " Hydrometrocolpos\n", + " definition of HP:0030010 (Hydrometrocolpos)\n", + " \n", + " \n", + " Hydrometrocolpos is an accumulation of uterine and vaginal secretions as well as menstrual blood in the uterus and vagina.\n", + " definition of HP:0030010 (Hydrometrocolpos)\n", + " \n", + " \n", + " Hyperplasia of the endometrium\n", + " definition of HP:0040298 (Hyperplasia of the endometrium)\n", + " \n", + " \n", + " #Hyperplastic endometrium\n", + " definition of HP:0040298 (Hyperplasia of the endometrium)\n", + " \n", + " \n", + " Hepatic artery hyperplasia\n", + " definition of HP:4000148 (Hepatic artery hyperplasia)\n", + " \n", + " \n", + " Abnormal increase in size of the hepatic arteries.\n", + " definition of HP:4000148 (Hepatic artery hyperplasia)\n", + " \n", + " \n", + " Abnormality of the hand\n", + " definition of HP:0001155 (Abnormality of the hand)\n", + " \n", + " \n", + " An abnormality affecting one or both hands.\n", + " definition of HP:0001155 (Abnormality of the hand)\n", + " \n", + " \n", + " #Abnormal hands #Abnormality of the hand #Hand anomalies #Hand deformities\n", + " definition of HP:0001155 (Abnormality of the hand)\n", + " \n", + " \n", + " Increased sulfur amino acid level in urine\n", + " definition of HP:0033095 (Increased sulfur amino acid level in urine)\n", + " \n", + " \n", + " An elevated level of a sulfur-containing amino acid in the urine.\n", + " definition of HP:0033095 (Increased sulfur amino acid level in urine)\n", + " \n", + " \n", + " #Increased sulfur-containing amino acid level in urine #Increased sulphur amino acid level in urine\n", + " definition of HP:0033095 (Increased sulfur amino acid level in urine)\n", + " \n", + " \n", + " Miscarriage\n", + " definition of HP:0005268 (Miscarriage)\n", + " \n", + " \n", + " A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 22th week of pregnancy.\n", + " definition of HP:0005268 (Miscarriage)\n", + " \n", + " \n", + " #Early fetal demise #Early foetal demise #Spontaneous abortion\n", + " definition of HP:0005268 (Miscarriage)\n", + " \n", + " \n", + " Increased red cell osmotic fragility\n", + " definition of HP:0005502 (Increased red cell osmotic fragility)\n", + " \n", + " \n", + " #Increased erythrocyte osmotic fragility #Increased red cell fragility\n", + " definition of HP:0005502 (Increased red cell osmotic fragility)\n", + " \n", + " \n", + " Fragmentation of the epiphyses of the 3rd finger\n", + " definition of HP:0009414 (Fragmentation of the epiphyses of the 3rd finger)\n", + " \n", + " \n", + " Fragmented appearance of the epiphyses of the 3rd finger.\n", + " definition of HP:0009414 (Fragmentation of the epiphyses of the 3rd finger)\n", + " \n", + " \n", + " #Fragmentation of end part of middle finger bone\n", + " definition of HP:0009414 (Fragmentation of the epiphyses of the 3rd finger)\n", + " \n", + " \n", + " Distally placed thumb\n", + " definition of HP:0009622 (Distally placed thumb)\n", + " \n", + " \n", + " Insertion of thumb at a more distal location than normal.\n", + " definition of HP:0009622 (Distally placed thumb)\n", + " \n", + " \n", + " Reduced erythrocyte galactose-1-phosphate uridylyltransferase activity\n", + " definition of HP:4000208 (Reduced erythrocyte galactose-1-phosphate uridylyltransferase activity)\n", + " \n", + " \n", + " Activity or concentration of in the level of galactose-1-phosphate uridylyltransferase (GALT; EC 2.7.7.12) in erythrocytes below the lower limit of normal.\n", + " definition of HP:4000208 (Reduced erythrocyte galactose-1-phosphate uridylyltransferase activity)\n", + " \n", + " \n", + " Aortic elastic fiber thinning\n", + " definition of HP:0032084 (Aortic elastic fiber thinning)\n", + " \n", + " \n", + " A thinning out of elastic fibers of the media of the aorta that creates widening of intralamellar spaces, as identified on a stain for elastic fibers.\n", + " definition of HP:0032084 (Aortic elastic fiber thinning)\n", + " \n", + " \n", + " #Aortic elastic fibre thinning\n", + " definition of HP:0032084 (Aortic elastic fiber thinning)\n", + " \n", + " \n", + " Cone-shaped epiphysis of the 1st metacarpal\n", + " definition of HP:0010017 (Cone-shaped epiphysis of the 1st metacarpal)\n", + " \n", + " \n", + " A cone-shaped appearance of the epiphysis of the 1st metacarpal, producing a 'ball-in-a-socket' appearance.\n", + " definition of HP:0010017 (Cone-shaped epiphysis of the 1st metacarpal)\n", + " \n", + " \n", + " #Cone-shaped end part of the 1st long bone of hand\n", + " definition of HP:0010017 (Cone-shaped epiphysis of the 1st metacarpal)\n", + " \n", + " \n", + " Abnorma vestibulocochlear nerve morphology\n", + " definition of HP:0009591 (Abnorma vestibulocochlear nerve morphology)\n", + " \n", + " \n", + " Any structural anomaly of the vestibulocochlear nerve. The vestibulocochlear nerve consists of the vestibular and cochlear nerves, also known as cranial nerve eight (CN VIII). Each nerve has distinct nuclei within the brainstem. The vestibular nerve is primarily responsible for maintaining body balance and eye movements, while the cochlear nerve is responsible for hearing.\n", + " definition of HP:0009591 (Abnorma vestibulocochlear nerve morphology)\n", + " \n", + " \n", + " #Abnormal eighth cranial nerve morphology #Abnormality of the vestibulocochlear nerve #Abnormality of the VIIIth cranial nerve\n", + " definition of HP:0009591 (Abnorma vestibulocochlear nerve morphology)\n", + " \n", + " \n", + " Abnormal dental enamel morphology\n", + " definition of HP:0000682 (Abnormal dental enamel morphology)\n", + " \n", + " \n", + " An abnormality of the dental enamel.\n", + " definition of HP:0000682 (Abnormal dental enamel morphology)\n", + " \n", + " \n", + " #Abnormal tooth enamel #Abnormality of dental enamel #Enamel abnormalities #Enamel abnormality\n", + " definition of HP:0000682 (Abnormal dental enamel morphology)\n", + " \n", + " \n", + " Swelling of proximal interphalangeal joints\n", + " definition of HP:0006253 (Swelling of proximal interphalangeal joints)\n", + " \n", + " \n", + " #Swelling of innermost hinge joints\n", + " definition of HP:0006253 (Swelling of proximal interphalangeal joints)\n", + " \n", + " \n", + " Abnormal clitoris morphology\n", + " definition of HP:0000056 (Abnormal clitoris morphology)\n", + " \n", + " \n", + " Any structural abnormality of the clitoris.\n", + " definition of HP:0000056 (Abnormal clitoris morphology)\n", + " \n", + " \n", + " #Abnormality of the clit #Abnormality of the clitoris\n", + " definition of HP:0000056 (Abnormal clitoris morphology)\n", + " \n", + " \n", + " Anti-AMPAR antibody positivity\n", + " definition of HP:5000001 (Anti-AMPAR antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR).\n", + " definition of HP:5000001 (Anti-AMPAR antibody positivity)\n", + " \n", + " \n", + " #Anti-alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor antibody\n", + " definition of HP:5000001 (Anti-AMPAR antibody positivity)\n", + " \n", + " \n", + " Abnormal CSF methionine concentration\n", + " definition of HP:0500209 (Abnormal CSF methionine concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of methionine in the cerebrospinal fluid.\n", + " definition of HP:0500209 (Abnormal CSF methionine concentration)\n", + " \n", + " \n", + " #Abnormal methionine levels in cerebrospinal fluid\n", + " definition of HP:0500209 (Abnormal CSF methionine concentration)\n", + " \n", + " \n", + " Hypoglycorrhachia\n", + " definition of HP:0011972 (Hypoglycorrhachia)\n", + " \n", + " \n", + " Abnormally low glucose concentration in the cerebrospinal fluid.\n", + " definition of HP:0011972 (Hypoglycorrhachia)\n", + " \n", + " \n", + " #Decreased CSF glucose #Low glucose levels in cerebral spinal fluid\n", + " definition of HP:0011972 (Hypoglycorrhachia)\n", + " \n", + " \n", + " Spinal meningeal diverticulum\n", + " definition of HP:0010304 (Spinal meningeal diverticulum)\n", + " \n", + " \n", + " An outpouching of the spinal meninges.\n", + " definition of HP:0010304 (Spinal meningeal diverticulum)\n", + " \n", + " \n", + " #Spinal meningeal diverticula\n", + " definition of HP:0010304 (Spinal meningeal diverticulum)\n", + " \n", + " \n", + " Flattened proximal radial epiphyses\n", + " definition of HP:0005004 (Flattened proximal radial epiphyses)\n", + " \n", + " \n", + " An abnormally flat form of the proximal epiphysis of the radius.\n", + " definition of HP:0005004 (Flattened proximal radial epiphyses)\n", + " \n", + " \n", + " Abnormal lymph-node marginal or mantle zone morphology\n", + " definition of HP:0020249 (Abnormal lymph-node marginal or mantle zone morphology)\n", + " \n", + " \n", + " An abnormality of the structure of the mantle or marginal zone of a lymph node.\n", + " definition of HP:0020249 (Abnormal lymph-node marginal or mantle zone morphology)\n", + " \n", + " \n", + " Septate gallbladder\n", + " definition of HP:0034504 (Septate gallbladder)\n", + " \n", + " \n", + " Septate gallbladder is characterized by the presence of a septum that divides the gallbladder in two chambers. When the septum dividing the gallbladder lies longitudinally it is called bilobed gallbladder and when there is a transverse septum separating the fundus from the rest of the gallbladder it is called an hour-glass gallbladder.\n", + " definition of HP:0034504 (Septate gallbladder)\n", + " \n", + " \n", + " Elevated leukocyte alkaline phosphatase\n", + " definition of HP:0008318 (Elevated leukocyte alkaline phosphatase)\n", + " \n", + " \n", + " Increased alkaline phosphatase measured within leukocytes.\n", + " definition of HP:0008318 (Elevated leukocyte alkaline phosphatase)\n", + " \n", + " \n", + " #Elevated leukocyte ALP\n", + " definition of HP:0008318 (Elevated leukocyte alkaline phosphatase)\n", + " \n", + " \n", + " Decreased body weight\n", + " definition of HP:0004325 (Decreased body weight)\n", + " \n", + " \n", + " Abnormally low body weight.\n", + " definition of HP:0004325 (Decreased body weight)\n", + " \n", + " \n", + " #Decreased body weight #Decreased weight #Low body weight #Low weight #Weight less than 3rd percentile\n", + " definition of HP:0004325 (Decreased body weight)\n", + " \n", + " \n", + " Thickened nuchal skin fold\n", + " definition of HP:0000474 (Thickened nuchal skin fold)\n", + " \n", + " \n", + " A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold (NF) measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. An NF measurement greater than 5 mm at 14 to 17+6 weeks of gestation, or 6 mm at 18 to 28 weeks has been associated with a markedly increased risk for Down syndrome.\n", + " definition of HP:0000474 (Thickened nuchal skin fold)\n", + " \n", + " \n", + " #Excess nuchal skin #Increased nuchal fold #Increased nuchal fold thickness #Thick nuchal fold #Thickened nuchal skin #Thickened skin folds of neck #Thickened skin over the neck\n", + " definition of HP:0000474 (Thickened nuchal skin fold)\n", + " \n", + " \n", + " Elevated mitochondrial citrate synthase synthase activity\n", + " definition of HP:6000195 (Elevated mitochondrial citrate synthase synthase activity)\n", + " \n", + " \n", + " Activity of the enzyme mitochondrial citrate synthase (EC:2.3.3.1) in muscle tissue is above the upper limit of normal.\n", + " definition of HP:6000195 (Elevated mitochondrial citrate synthase synthase activity)\n", + " \n", + " \n", + " Aorto-right ventricular tunnel\n", + " definition of HP:0031933 (Aorto-right ventricular tunnel)\n", + " \n", + " \n", + " The presence of an extracardiac channel that connects the ascending aorta above the sinotubular junction to the cavity of the right ventricle.\n", + " definition of HP:0031933 (Aorto-right ventricular tunnel)\n", + " \n", + " \n", + " #Right ventricle to aorta tunnel\n", + " definition of HP:0031933 (Aorto-right ventricular tunnel)\n", + " \n", + " \n", + " Abnormal motor nerve conduction velocity\n", + " definition of HP:0040131 (Abnormal motor nerve conduction velocity)\n", + " \n", + " \n", + " Elevated urinary succinyladenosine level\n", + " definition of HP:6000113 (Elevated urinary succinyladenosine level)\n", + " \n", + " \n", + " The amount of succinyladenosine in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000113 (Elevated urinary succinyladenosine level)\n", + " \n", + " \n", + " Hypoplastic vertebral bodies\n", + " definition of HP:0008479 (Hypoplastic vertebral bodies)\n", + " \n", + " \n", + " #Small vertebrae #Small vertebral bodies #Underdeveloped back bones\n", + " definition of HP:0008479 (Hypoplastic vertebral bodies)\n", + " \n", + " \n", + " Orofacial dyskinesia\n", + " definition of HP:0002310 (Orofacial dyskinesia)\n", + " \n", + " \n", + " #Orofacial dyskinesias\n", + " definition of HP:0002310 (Orofacial dyskinesia)\n", + " \n", + " \n", + " Exercise-induced muscle fatigue\n", + " definition of HP:0009020 (Exercise-induced muscle fatigue)\n", + " \n", + " \n", + " An abnormally increased tendency towards muscle fatigue induced by physical exercise.\n", + " definition of HP:0009020 (Exercise-induced muscle fatigue)\n", + " \n", + " \n", + " Prolonged need of intravenous antibiotic therapy\n", + " definition of HP:0020095 (Prolonged need of intravenous antibiotic therapy)\n", + " \n", + " \n", + " Clinical assessment of a requirement to treat with intravenous antibiotics over an unusually prolonged period of time.\n", + " definition of HP:0020095 (Prolonged need of intravenous antibiotic therapy)\n", + " \n", + " \n", + " Ivory epiphysis of the distal phalanx of the thumb\n", + " definition of HP:0009681 (Ivory epiphysis of the distal phalanx of the thumb)\n", + " \n", + " \n", + " Sclerosis of the epiphysis of the distal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.\n", + " definition of HP:0009681 (Ivory epiphysis of the distal phalanx of the thumb)\n", + " \n", + " \n", + " #Increased bone density of end part of the outermost bone of the thumb\n", + " definition of HP:0009681 (Ivory epiphysis of the distal phalanx of the thumb)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the proximal phalanx of the 5th finger\n", + " definition of HP:0009192 (Aplasia/Hypoplasia of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " Absence or underdevelopment (hypoplasia) of the proximal phalanx of the little (5th) finger.\n", + " definition of HP:0009192 (Aplasia/Hypoplasia of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " #Absent/small innermost little finger bone #Absent/small innermost pinkie finger bone #Absent/small innermost pinky finger bone #Absent/underdeveloped innermost pinky finger bone\n", + " definition of HP:0009192 (Aplasia/Hypoplasia of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " Elevated urinary 2-oxovaleric acid level\n", + " definition of HP:6000600 (Elevated urinary 2-oxovaleric acid level)\n", + " \n", + " \n", + " The amount of 2-oxovaleric acid in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000600 (Elevated urinary 2-oxovaleric acid level)\n", + " \n", + " \n", + " #Elevated urinary alpha-ketovalerate level\n", + " definition of HP:6000600 (Elevated urinary 2-oxovaleric acid level)\n", + " \n", + " \n", + " Serpiginous burrow\n", + " definition of HP:6000960 (Serpiginous burrow)\n", + " \n", + " \n", + " A slightly raised and often reddish serpentine or curvilinear path in the skin.\n", + " definition of HP:6000960 (Serpiginous burrow)\n", + " \n", + " \n", + " Macular scar\n", + " definition of HP:0200056 (Macular scar)\n", + " \n", + " \n", + " Scar tissue in the macula.\n", + " definition of HP:0200056 (Macular scar)\n", + " \n", + " \n", + " #Macular scarring\n", + " definition of HP:0200056 (Macular scar)\n", + " \n", + " \n", + " Paralytic lagophthalmos\n", + " definition of HP:0030003 (Paralytic lagophthalmos)\n", + " \n", + " \n", + " A type of lagophthalmos that occurs in association with facial nerve palsy.\n", + " definition of HP:0030003 (Paralytic lagophthalmos)\n", + " \n", + " \n", + " Impaired renal tubular reabsorption of phosphate\n", + " definition of HP:0034359 (Impaired renal tubular reabsorption of phosphate)\n", + " \n", + " \n", + " Increased fractional excretion (FE) of glucose in the phosphate. The FE of glucose is the percentage of the phosphate filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine phosphate, rather than by the interpretation of urinary phosphate concentration alone, as urinary glucose concentrations can vary with water reabsorption.\n", + " definition of HP:0034359 (Impaired renal tubular reabsorption of phosphate)\n", + " \n", + " \n", + " Upper limb dysmetria\n", + " definition of HP:0020036 (Upper limb dysmetria)\n", + " \n", + " \n", + " A lack of coordination of arm movement manifested by undershoot or overshoot of the intended position of the arm.\n", + " definition of HP:0020036 (Upper limb dysmetria)\n", + " \n", + " \n", + " Bicornuate uterus\n", + " definition of HP:0000813 (Bicornuate uterus)\n", + " \n", + " \n", + " The presence of a bicornuate uterus.\n", + " definition of HP:0000813 (Bicornuate uterus)\n", + " \n", + " \n", + " #Heart shaped uterus #Heart-shaped uterus #Uterus bicornis\n", + " definition of HP:0000813 (Bicornuate uterus)\n", + " \n", + " \n", + " Giant melanosomes in melanocytes\n", + " definition of HP:0005592 (Giant melanosomes in melanocytes)\n", + " \n", + " \n", + " The presence of large spherical melanosomes (1 to 6 micrometer in diameter) in the cytoplasm of melanocytes.\n", + " definition of HP:0005592 (Giant melanosomes in melanocytes)\n", + " \n", + " \n", + " #Macromelanosomes\n", + " definition of HP:0005592 (Giant melanosomes in melanocytes)\n", + " \n", + " \n", + " Unilateral conductive hearing impairment\n", + " definition of HP:0040119 (Unilateral conductive hearing impairment)\n", + " \n", + " \n", + " Elbow extension contracture\n", + " definition of HP:0034393 (Elbow extension contracture)\n", + " \n", + " \n", + " An elbow contracture that limits the ability of the elbow joint to flex (flexion of the the elbow joint refers to bending the elbow joint to bring the hand closer to the shoulder), meaning that the elbow is fixed in an extended (straight) position.\n", + " definition of HP:0034393 (Elbow extension contracture)\n", + " \n", + " \n", + " Duplication of phalanx of hand\n", + " definition of HP:0009997 (Duplication of phalanx of hand)\n", + " \n", + " \n", + " This term applies if one or more of the phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.\n", + " definition of HP:0009997 (Duplication of phalanx of hand)\n", + " \n", + " \n", + " #Duplication of finger bones\n", + " definition of HP:0009997 (Duplication of phalanx of hand)\n", + " \n", + " \n", + " Chronic infection\n", + " definition of HP:0031035 (Chronic infection)\n", + " \n", + " \n", + " Presence of a protracted or persistent infection by a pathogen potentially related to an underlying abnormality of the immune system that is not able to clear the infection.\n", + " definition of HP:0031035 (Chronic infection)\n", + " \n", + " \n", + " Elevated urine octanoic acid level\n", + " definition of HP:0034654 (Elevated urine octanoic acid level)\n", + " \n", + " \n", + " Amount of octanoic acid in the urine above the upper limit of normal.\n", + " definition of HP:0034654 (Elevated urine octanoic acid level)\n", + " \n", + " \n", + " Abnormal platelet aggregation\n", + " definition of HP:0030402 (Abnormal platelet aggregation)\n", + " \n", + " \n", + " An abnormality in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent.\n", + " definition of HP:0030402 (Abnormal platelet aggregation)\n", + " \n", + " \n", + " Ureteral mass\n", + " definition of HP:0034963 (Ureteral mass)\n", + " \n", + " \n", + " A swelling or enlargement localized to the ureter. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.\n", + " definition of HP:0034963 (Ureteral mass)\n", + " \n", + " \n", + " Oligoclonal elevated circulating IgE concentration\n", + " definition of HP:0032338 (Oligoclonal elevated circulating IgE concentration)\n", + " \n", + " \n", + " An increase in circulating IgE characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.\n", + " definition of HP:0032338 (Oligoclonal elevated circulating IgE concentration)\n", + " \n", + " \n", + " #Oligoclonal elevation of circulating IgE\n", + " definition of HP:0032338 (Oligoclonal elevated circulating IgE concentration)\n", + " \n", + " \n", + " Anti-ITPR1 antibody\n", + " definition of HP:5000018 (Anti-ITPR1 antibody)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against inositol 1,4,5-trisphosphate receptor 1 (ITPR1).\n", + " definition of HP:5000018 (Anti-ITPR1 antibody)\n", + " \n", + " \n", + " #Anti-inositol 1,4,5-trisphosphate receptor type 1 antibody\n", + " definition of HP:5000018 (Anti-ITPR1 antibody)\n", + " \n", + " \n", + " Focal cortical dysplasia type Ib\n", + " definition of HP:0032049 (Focal cortical dysplasia type Ib)\n", + " \n", + " \n", + " A subtype of focal cortical dysplasia type I that is characterized by abnormal tangential cortical lamination.\n", + " definition of HP:0032049 (Focal cortical dysplasia type Ib)\n", + " \n", + " \n", + " Indifference to social norms\n", + " definition of HP:5200124 (Indifference to social norms)\n", + " \n", + " \n", + " Failure to follow social norms (shared standards of acceptable behavior) even though one has awareness of these norms and the ability to follow them. This is characterized by an indifference to the consequences of breaking social norms.\n", + " definition of HP:5200124 (Indifference to social norms)\n", + " \n", + " \n", + " Broad hallux phalanx\n", + " definition of HP:0010059 (Broad hallux phalanx)\n", + " \n", + " \n", + " An increase in width in one or more phalanges of the big toe.\n", + " definition of HP:0010059 (Broad hallux phalanx)\n", + " \n", + " \n", + " #Broad bone of big toe #Broad phalanges of the hallux #Wide bone of big toe\n", + " definition of HP:0010059 (Broad hallux phalanx)\n", + " \n", + " \n", + " Absent end-diastolic umbilical artery flow\n", + " definition of HP:0034224 (Absent end-diastolic umbilical artery flow)\n", + " \n", + " \n", + " An anomaly that is visualized by umbilical artery Doppler velocimetry. Flow in the umbilical artery should be in the forward direction in normal circumstances. This anomaly is characterized by an absence of flow in the umbilical artery at the end of diastole.\n", + " definition of HP:0034224 (Absent end-diastolic umbilical artery flow)\n", + " \n", + " \n", + " Hypoplastic radial head\n", + " definition of HP:0003997 (Hypoplastic radial head)\n", + " \n", + " \n", + " #Small radial head\n", + " definition of HP:0003997 (Hypoplastic radial head)\n", + " \n", + " \n", + " Bullet-shaped 3rd toe phalanx\n", + " definition of HP:0010361 (Bullet-shaped 3rd toe phalanx)\n", + " \n", + " \n", + " An abnormal morphology of one or more phalanges of the third toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.\n", + " definition of HP:0010361 (Bullet-shaped 3rd toe phalanx)\n", + " \n", + " \n", + " #Bullet-shaped bones of 3rd toe #Bullet-shaped phalanges of the 3rd toe\n", + " definition of HP:0010361 (Bullet-shaped 3rd toe phalanx)\n", + " \n", + " \n", + " Abnormal ischium ossification\n", + " definition of HP:6000654 (Abnormal ischium ossification)\n", + " \n", + " \n", + " An abnormality of the formation and mineralization of ischial bones.\n", + " definition of HP:6000654 (Abnormal ischium ossification)\n", + " \n", + " \n", + " #Abnormal ossification of the ischium\n", + " definition of HP:6000654 (Abnormal ischium ossification)\n", + " \n", + " \n", + " Abnormal circulating glycine concentration\n", + " definition of HP:0010895 (Abnormal circulating glycine concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of glycine in the blood circulation.\n", + " definition of HP:0010895 (Abnormal circulating glycine concentration)\n", + " \n", + " \n", + " Triangular epiphysis of the middle phalanx of the 2nd toe\n", + " definition of HP:0100121 (Triangular epiphysis of the middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Triangular end part of the middle bone of the 2nd toe\n", + " definition of HP:0100121 (Triangular epiphysis of the middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " Abnormal fundus morphology\n", + " definition of HP:0001098 (Abnormal fundus morphology)\n", + " \n", + " \n", + " Any structural abnormality of the fundus of the eye.\n", + " definition of HP:0001098 (Abnormal fundus morphology)\n", + " \n", + " \n", + " #Abnormality of the fundus\n", + " definition of HP:0001098 (Abnormal fundus morphology)\n", + " \n", + " \n", + " Hyperpituitarism\n", + " definition of HP:0010514 (Hyperpituitarism)\n", + " \n", + " \n", + " Hypersecretion of one or more pituitary hormones. This can occur in conditions in which deficiency in the target organ leads to decreased hormonal feedback, or as a primary condition most usually in connection with a pituitary adenoma.\n", + " definition of HP:0010514 (Hyperpituitarism)\n", + " \n", + " \n", + " Increased disialylated core 1 O-glycan level\n", + " definition of HP:0410365 (Increased disialylated core 1 O-glycan level)\n", + " \n", + " \n", + " An abnormal increase in the concentration of disialylated core 1 O-glycans on glycoproteins.\n", + " definition of HP:0410365 (Increased disialylated core 1 O-glycan level)\n", + " \n", + " \n", + " #Increased disialyl T-antigen concentration\n", + " definition of HP:0410365 (Increased disialylated core 1 O-glycan level)\n", + " \n", + " \n", + " Renal tubular acidosis\n", + " definition of HP:0001947 (Renal tubular acidosis)\n", + " \n", + " \n", + " Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis.\n", + " definition of HP:0001947 (Renal tubular acidosis)\n", + " \n", + " \n", + " #Accumulation of acid in body due to kidney problem\n", + " definition of HP:0001947 (Renal tubular acidosis)\n", + " \n", + " \n", + " Left posterior fascicular block\n", + " definition of HP:0005172 (Left posterior fascicular block)\n", + " \n", + " \n", + " Conduction block in the posterior division of the left bundle branch of the bundle of His.\n", + " definition of HP:0005172 (Left posterior fascicular block)\n", + " \n", + " \n", + " #Left posterior hemiblock\n", + " definition of HP:0005172 (Left posterior fascicular block)\n", + " \n", + " \n", + " Distal urethral duplication\n", + " definition of HP:0008706 (Distal urethral duplication)\n", + " \n", + " \n", + " Primary peritoneal serous papillary adenocarcinoma\n", + " definition of HP:0430116 (Primary peritoneal serous papillary adenocarcinoma)\n", + " \n", + " \n", + " A serous papillary adenocarcinoma that arises from the lining of the peritoneum\n", + " definition of HP:0430116 (Primary peritoneal serous papillary adenocarcinoma)\n", + " \n", + " \n", + " Abnormal placental adhesion into the uterine wall\n", + " definition of HP:0025652 (Abnormal placental adhesion into the uterine wall)\n", + " \n", + " \n", + " Abnormal placental adhesion is characterized by an anomalous adherence of the placenta to the uterine wall. Based on the degree of adhesion, placental invasion can be classified into accreta, increta, or percreta.\n", + " definition of HP:0025652 (Abnormal placental adhesion into the uterine wall)\n", + " \n", + " \n", + " Lytic defects of radial metaphysis\n", + " definition of HP:0004021 (Lytic defects of radial metaphysis)\n", + " \n", + " \n", + " Complete duplication of phalanx of hand\n", + " definition of HP:0009998 (Complete duplication of phalanx of hand)\n", + " \n", + " \n", + " A complete duplication affecting one or more of the phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, is a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.\n", + " definition of HP:0009998 (Complete duplication of phalanx of hand)\n", + " \n", + " \n", + " #Complete duplication of hand bones\n", + " definition of HP:0009998 (Complete duplication of phalanx of hand)\n", + " \n", + " \n", + " Absent ossification of the trapezium\n", + " definition of HP:0045002 (Absent ossification of the trapezium)\n", + " \n", + " \n", + " Dilatation of the sinus of Valsalva\n", + " definition of HP:0011645 (Dilatation of the sinus of Valsalva)\n", + " \n", + " \n", + " Abnormal outpouching or sac-like dilatation of one of the anatomic dilations of the ascending aorta, which occurs just above the aortic valve.\n", + " definition of HP:0011645 (Dilatation of the sinus of Valsalva)\n", + " \n", + " \n", + " #Aortic sinus aneurysm\n", + " definition of HP:0011645 (Dilatation of the sinus of Valsalva)\n", + " \n", + " \n", + " Gastrointestinal duplication\n", + " definition of HP:0011140 (Gastrointestinal duplication)\n", + " \n", + " \n", + " A spherical hollow structure with a smooth muscle coat, lined by a mucous membrane, and attached to any part of the gastrointestinal tract, from the base of the tongue to the anus.\n", + " definition of HP:0011140 (Gastrointestinal duplication)\n", + " \n", + " \n", + " #GI duplication\n", + " definition of HP:0011140 (Gastrointestinal duplication)\n", + " \n", + " \n", + " History of recent stay in area with inadequate sewage sanitation\n", + " definition of HP:6000540 (History of recent stay in area with inadequate sewage sanitation)\n", + " \n", + " \n", + " A history of having been in an area with inadequate sewage sanitation in the recent past.\n", + " definition of HP:6000540 (History of recent stay in area with inadequate sewage sanitation)\n", + " \n", + " \n", + " Inspiratory stridor\n", + " definition of HP:0005348 (Inspiratory stridor)\n", + " \n", + " \n", + " Inspiratory stridor is a high pitched sound upon inspiration that is generally related to laryngeal abnormalities.\n", + " definition of HP:0005348 (Inspiratory stridor)\n", + " \n", + " \n", + " Enlarged epiphyses\n", + " definition of HP:0010580 (Enlarged epiphyses)\n", + " \n", + " \n", + " Increased size of epiphyses.\n", + " definition of HP:0010580 (Enlarged epiphyses)\n", + " \n", + " \n", + " #Large end part of bone #Large epiphyses #Widened, distorted epiphyses\n", + " definition of HP:0010580 (Enlarged epiphyses)\n", + " \n", + " \n", + " Increased urinary glycerol\n", + " definition of HP:0040301 (Increased urinary glycerol)\n", + " \n", + " \n", + " An increased concentration of glycerol in the urine.\n", + " definition of HP:0040301 (Increased urinary glycerol)\n", + " \n", + " \n", + " Ridged fingernail\n", + " definition of HP:0008402 (Ridged fingernail)\n", + " \n", + " \n", + " Longitudinal, linear prominences in the fingernail plate.\n", + " definition of HP:0008402 (Ridged fingernail)\n", + " \n", + " \n", + " #Longitudinally grooved fingernails #Ridged fingernail\n", + " definition of HP:0008402 (Ridged fingernail)\n", + " \n", + " \n", + " Enlarged distal tibial epiphysis\n", + " definition of HP:6000886 (Enlarged distal tibial epiphysis)\n", + " \n", + " \n", + " Size (volume) of the distal epiphysis of the tiba above the upper limit of normal.\n", + " definition of HP:6000886 (Enlarged distal tibial epiphysis)\n", + " \n", + " \n", + " #Large distal tibial epiphysis\n", + " definition of HP:6000886 (Enlarged distal tibial epiphysis)\n", + " \n", + " \n", + " Aplasia of the phalanges of the 3rd toe\n", + " definition of HP:0100362 (Aplasia of the phalanges of the 3rd toe)\n", + " \n", + " \n", + " #Absent digital bone of the 3rd toe\n", + " definition of HP:0100362 (Aplasia of the phalanges of the 3rd toe)\n", + " \n", + " \n", + " Bicuspid pulmonary valve\n", + " definition of HP:0005182 (Bicuspid pulmonary valve)\n", + " \n", + " \n", + " The presence of a bicuspid pulmonary valve.\n", + " definition of HP:0005182 (Bicuspid pulmonary valve)\n", + " \n", + " \n", + " Focal T2 hyperintense brainstem lesion\n", + " definition of HP:0012748 (Focal T2 hyperintense brainstem lesion)\n", + " \n", + " \n", + " A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hyperintensity affecting a particular region of the brainstem.\n", + " definition of HP:0012748 (Focal T2 hyperintense brainstem lesion)\n", + " \n", + " \n", + " Cone-shaped epiphysis of the middle phalanx of the 4th finger\n", + " definition of HP:0009216 (Cone-shaped epiphysis of the middle phalanx of the 4th finger)\n", + " \n", + " \n", + " A cone-shaped appearance of the epiphysis of the middle phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.\n", + " definition of HP:0009216 (Cone-shaped epiphysis of the middle phalanx of the 4th finger)\n", + " \n", + " \n", + " #Cone-shaped end part of the middle bone of the ring finger\n", + " definition of HP:0009216 (Cone-shaped epiphysis of the middle phalanx of the 4th finger)\n", + " \n", + " \n", + " Peripheral pulmonary artery stenosis\n", + " definition of HP:0004969 (Peripheral pulmonary artery stenosis)\n", + " \n", + " \n", + " Stenosis of a peripheral branch of the pulmonary artery.\n", + " definition of HP:0004969 (Peripheral pulmonary artery stenosis)\n", + " \n", + " \n", + " #Narrowing of peripheral lung artery #peripheral pulmonary stenosis #Peripheral pulmonic stenosis\n", + " definition of HP:0004969 (Peripheral pulmonary artery stenosis)\n", + " \n", + " \n", + " Aplasia/hypoplasia of proximal toe phalanx\n", + " definition of HP:0010203 (Aplasia/hypoplasia of proximal toe phalanx)\n", + " \n", + " \n", + " Absence (agenesis) or underdevelopment of the proximal phalanx of the toe.\n", + " definition of HP:0010203 (Aplasia/hypoplasia of proximal toe phalanx)\n", + " \n", + " \n", + " #Absent/small innermost toe bones #Absent/underdeveloped innermost toe bones #Aplasia/Hypoplasia of the proximal phalanges of the toes\n", + " definition of HP:0010203 (Aplasia/hypoplasia of proximal toe phalanx)\n", + " \n", + " \n", + " Severity\n", + " definition of HP:0012824 (Severity)\n", + " \n", + " \n", + " The intensity or degree of a manifestation.\n", + " definition of HP:0012824 (Severity)\n", + " \n", + " \n", + " #Intensity\n", + " definition of HP:0012824 (Severity)\n", + " \n", + " \n", + " Decreased circulating vitamin B2 concentration\n", + " definition of HP:0100504 (Decreased circulating vitamin B2 concentration)\n", + " \n", + " \n", + " The concentration of vitamin B2 in the blood circulation is below the lower limit of normal.\n", + " definition of HP:0100504 (Decreased circulating vitamin B2 concentration)\n", + " \n", + " \n", + " #Low levels of vitamin B2 #Riboflavin deficiency #Vitamin B2 deficiency\n", + " definition of HP:0100504 (Decreased circulating vitamin B2 concentration)\n", + " \n", + " \n", + " Abnormal circulating cytokine concentration\n", + " definition of HP:0011112 (Abnormal circulating cytokine concentration)\n", + " \n", + " \n", + " Abnormality of the cytokine levels in the blood, i.e., an abnormality of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells.\n", + " definition of HP:0011112 (Abnormal circulating cytokine concentration)\n", + " \n", + " \n", + " #Abnormality of serum cytokine level\n", + " definition of HP:0011112 (Abnormal circulating cytokine concentration)\n", + " \n", + " \n", + " Bone marrow erythroid vacuolization\n", + " definition of HP:4000108 (Bone marrow erythroid vacuolization)\n", + " \n", + " \n", + " Formation of vacuoles (a space within a cell that is empty of cytoplasm, lined with a membrane, and filled with fluid) in the cytoplasm of erythroid precursors in the bone marrow.\n", + " definition of HP:4000108 (Bone marrow erythroid vacuolization)\n", + " \n", + " \n", + " #Bone marrow: erythroid vacuolization\n", + " definition of HP:4000108 (Bone marrow erythroid vacuolization)\n", + " \n", + " \n", + " Dry nipple\n", + " definition of HP:0031509 (Dry nipple)\n", + " \n", + " \n", + " Abnormally dry skin in the area of the nipple of the breast.\n", + " definition of HP:0031509 (Dry nipple)\n", + " \n", + " \n", + " Abnormal 3rd metacarpal morphology\n", + " definition of HP:0010011 (Abnormal 3rd metacarpal morphology)\n", + " \n", + " \n", + " Any abnormality of the third metacarpal bone.\n", + " definition of HP:0010011 (Abnormal 3rd metacarpal morphology)\n", + " \n", + " \n", + " #Abnormality of the 3rd long bone of hand #Abnormality of the 3rd metacarpal\n", + " definition of HP:0010011 (Abnormal 3rd metacarpal morphology)\n", + " \n", + " \n", + " Small superior frontal cortex\n", + " definition of HP:0031421 (Small superior frontal cortex)\n", + " \n", + " \n", + " Reduced size of the superior frontal portion of the cerebral cortex.\n", + " definition of HP:0031421 (Small superior frontal cortex)\n", + " \n", + " \n", + " Excessively quiet speech\n", + " definition of HP:5200040 (Excessively quiet speech)\n", + " \n", + " \n", + " Speech which is persistently abnormally quiet, or of low in volume for the social and cultural context. This includes persistent and inappropriate whispering. It is not due to a medical or surgical condition that results in hoarseness, nor structural or muscular abnormality that results in low speech volume.\n", + " definition of HP:5200040 (Excessively quiet speech)\n", + " \n", + " \n", + " #Excessively quiet voice #Excessively soft voice #Speech to soft for context\n", + " definition of HP:5200040 (Excessively quiet speech)\n", + " \n", + " \n", + " Abnormal amplitude of dark-adapted bright flash electroretinogram\n", + " definition of HP:0030478 (Abnormal amplitude of dark-adapted bright flash electroretinogram)\n", + " \n", + " \n", + " Eyelid retraction\n", + " definition of HP:0500043 (Eyelid retraction)\n", + " \n", + " \n", + " With the eyes in primary position, the sclera is visible above the superior corneal limbus.\n", + " definition of HP:0500043 (Eyelid retraction)\n", + " \n", + " \n", + " Nephropathy\n", + " definition of HP:0000112 (Nephropathy)\n", + " \n", + " \n", + " A nonspecific term referring to disease or damage of the kidneys.\n", + " definition of HP:0000112 (Nephropathy)\n", + " \n", + " \n", + " Carpometacarpal synostosis\n", + " definition of HP:0100328 (Carpometacarpal synostosis)\n", + " \n", + " \n", + " Fusion involving carpal and metacarpal bones.\n", + " definition of HP:0100328 (Carpometacarpal synostosis)\n", + " \n", + " \n", + " #Fused wrist bones and long bones of hand\n", + " definition of HP:0100328 (Carpometacarpal synostosis)\n", + " \n", + " \n", + " Branchial anomaly\n", + " definition of HP:0009794 (Branchial anomaly)\n", + " \n", + " \n", + " Congenital developmental defect arising from the primitive branchial apparatus.\n", + " definition of HP:0009794 (Branchial anomaly)\n", + " \n", + " \n", + " #Abnormality of branchial apparatus #Abnormality of branchial arch #Branchial abnormality #Branchial anomalies\n", + " definition of HP:0009794 (Branchial anomaly)\n", + " \n", + " \n", + " Episcleritis\n", + " definition of HP:0100534 (Episcleritis)\n", + " \n", + " \n", + " Inflammation of the episclera, a thin layer of tissue covering the white part (sclera) of the eye.\n", + " definition of HP:0100534 (Episcleritis)\n", + " \n", + " \n", + " #Inflammation of the thin layer on top of the white part of eye\n", + " definition of HP:0100534 (Episcleritis)\n", + " \n", + " \n", + " Patchy sclerosis of distal toe phalanx\n", + " definition of HP:0010190 (Patchy sclerosis of distal toe phalanx)\n", + " \n", + " \n", + " Patchy (irregular) increase in bone density of one or more of the distal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays.\n", + " definition of HP:0010190 (Patchy sclerosis of distal toe phalanx)\n", + " \n", + " \n", + " #Patchy sclerosis of the distal phalanges of the toes #Uneven increase in bone density in outermost toe bone\n", + " definition of HP:0010190 (Patchy sclerosis of distal toe phalanx)\n", + " \n", + " \n", + " Positive human Immunodeficiency virus nucleic acid test in the blood circulation\n", + " definition of HP:6000546 (Positive human Immunodeficiency virus nucleic acid test in the blood circulation)\n", + " \n", + " \n", + " Detection of nucleic acid of human immunodeficiency vrus (HIV) in the blood circulation by a methiod such as polymerase chain reaction (PCR).\n", + " definition of HP:6000546 (Positive human Immunodeficiency virus nucleic acid test in the blood circulation)\n", + " \n", + " \n", + " Gastrointestinal infarctions\n", + " definition of HP:0005244 (Gastrointestinal infarctions)\n", + " \n", + " \n", + " #Death of digestive organ tissue due to poor blood supply #GI infarctions\n", + " definition of HP:0005244 (Gastrointestinal infarctions)\n", + " \n", + " \n", + " Anterior chamber cells grade 4+\n", + " definition of HP:0025566 (Anterior chamber cells grade 4+)\n", + " \n", + " \n", + " Anterior chamber cells with more than 50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.\n", + " definition of HP:0025566 (Anterior chamber cells grade 4+)\n", + " \n", + " \n", + " Chondritis of pinna\n", + " definition of HP:0200047 (Chondritis of pinna)\n", + " \n", + " \n", + " Inflammation of the cartilage of the external ear.\n", + " definition of HP:0200047 (Chondritis of pinna)\n", + " \n", + " \n", + " #Inflammation of cartilage of pinna\n", + " definition of HP:0200047 (Chondritis of pinna)\n", + " \n", + " \n", + " Angioedema\n", + " definition of HP:0100665 (Angioedema)\n", + " \n", + " \n", + " Rapid swelling (edema) of the dermis, subcutaneous tissue, mucosa and submucosal tissues of the skin of the face, normally around the mouth, and the mucosa of the mouth and/or throat, as well as the tongue during a period of minutes to several hours. The swelling can also occur elsewhere, typically in the hands. Angioedema is similar to urticaria, but the swelling is subcutaneous rather than on the epidermis.\n", + " definition of HP:0100665 (Angioedema)\n", + " \n", + " \n", + " #Angioneurotic edema #Angioneurotic oedema #Angiooedema #Quincke edema #Quincke oedema\n", + " definition of HP:0100665 (Angioedema)\n", + " \n", + " \n", + " Biceps hyperreflexia\n", + " definition of HP:0033205 (Biceps hyperreflexia)\n", + " \n", + " \n", + " Increased intensity of the biceps reflex.\n", + " definition of HP:0033205 (Biceps hyperreflexia)\n", + " \n", + " \n", + " Dissociated sensory loss\n", + " definition of HP:0010835 (Dissociated sensory loss)\n", + " \n", + " \n", + " A pattern of sensory loss with selective loss of touch sensation and proprioception without loss of pain and temperature, or vice-versa.\n", + " definition of HP:0010835 (Dissociated sensory loss)\n", + " \n", + " \n", + " Chronic cough\n", + " definition of HP:0034315 (Chronic cough)\n", + " \n", + " \n", + " A persistent cough, defined as a cough lasting longer than eight weeks in adults or longer than four weeks in children.\n", + " definition of HP:0034315 (Chronic cough)\n", + " \n", + " \n", + " Large cafe-au-lait macules with irregular margins\n", + " definition of HP:0005605 (Large cafe-au-lait macules with irregular margins)\n", + " \n", + " \n", + " Large hypermelanotic macules with jagged borders.\n", + " definition of HP:0005605 (Large cafe-au-lait macules with irregular margins)\n", + " \n", + " \n", + " Fused thoracic vertebrae\n", + " definition of HP:0030039 (Fused thoracic vertebrae)\n", + " \n", + " \n", + " A congenital anomaly characterized by a joining (fusion) of two or more thoracic vertebral bodies with one another.\n", + " definition of HP:0030039 (Fused thoracic vertebrae)\n", + " \n", + " \n", + " Coronary artery spasm\n", + " definition of HP:0025497 (Coronary artery spasm)\n", + " \n", + " \n", + " A brief and sudden narrowing of a coronary artery.\n", + " definition of HP:0025497 (Coronary artery spasm)\n", + " \n", + " \n", + " #Coronary artery vasospasm\n", + " definition of HP:0025497 (Coronary artery spasm)\n", + " \n", + " \n", + " Abnormality of the distal radial epiphysis\n", + " definition of HP:0010597 (Abnormality of the distal radial epiphysis)\n", + " \n", + " \n", + " Any abnormality of the distal epiphysis of the radius.\n", + " definition of HP:0010597 (Abnormality of the distal radial epiphysis)\n", + " \n", + " \n", + " Verrucous papule\n", + " definition of HP:0012500 (Verrucous papule)\n", + " \n", + " \n", + " A wartlike (with multiple small elevated projections) papule.\n", + " definition of HP:0012500 (Verrucous papule)\n", + " \n", + " \n", + " #Papillomatous papule\n", + " definition of HP:0012500 (Verrucous papule)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the ribs\n", + " definition of HP:0006712 (Aplasia/Hypoplasia of the ribs)\n", + " \n", + " \n", + " #Absent/small ribs #Absent/underdeveloped ribs #Hypoplastic or missing ribs\n", + " definition of HP:0006712 (Aplasia/Hypoplasia of the ribs)\n", + " \n", + " \n", + " Thyroid follicular hyperplasia\n", + " definition of HP:0008225 (Thyroid follicular hyperplasia)\n", + " \n", + " \n", + " Fractured distal tarsal bone 3\n", + " definition of HP:0041228 (Fractured distal tarsal bone 3)\n", + " \n", + " \n", + " A partial or complete breakage of the distal tarsal bone 3.\n", + " definition of HP:0041228 (Fractured distal tarsal bone 3)\n", + " \n", + " \n", + " #bone distal tarsal bone 3\n", + " definition of HP:0041228 (Fractured distal tarsal bone 3)\n", + " \n", + " \n", + " Plant based food allergy\n", + " definition of HP:0410332 (Plant based food allergy)\n", + " \n", + " \n", + " Hypersensitivity in form of an adverse immune reaction against plant based food allergens.\n", + " definition of HP:0410332 (Plant based food allergy)\n", + " \n", + " \n", + " #Allergy to plant based food allergens #IgE-mediated plant based food allergen allergy #Immunoglobulin E-mediated plant based food allergen allergy #Plant based food allergy\n", + " definition of HP:0410332 (Plant based food allergy)\n", + " \n", + " \n", + " History of recent tick bite\n", + " definition of HP:0020140 (History of recent tick bite)\n", + " \n", + " \n", + " Medical history of a recent bite injury due to a tick.\n", + " definition of HP:0020140 (History of recent tick bite)\n", + " \n", + " \n", + " Midline central nervous system lipomas\n", + " definition of HP:0006866 (Midline central nervous system lipomas)\n", + " \n", + " \n", + " #Midline CNS lipomas\n", + " definition of HP:0006866 (Midline central nervous system lipomas)\n", + " \n", + " \n", + " Abnormal femoral artery morphology\n", + " definition of HP:0035012 (Abnormal femoral artery morphology)\n", + " \n", + " \n", + " Any structural abnormality of the femoral artey, a large blood vessel that provides oxygenated blood to lower extremity structures and in part to the lower anterior abdominal wall.\n", + " definition of HP:0035012 (Abnormal femoral artery morphology)\n", + " \n", + " \n", + " Decreased circulating hydroxyproline concentration\n", + " definition of HP:0500140 (Decreased circulating hydroxyproline concentration)\n", + " \n", + " \n", + " A decreased amount of hydroxyproline in the blood.\n", + " definition of HP:0500140 (Decreased circulating hydroxyproline concentration)\n", + " \n", + " \n", + " #Decreased hydroxyproline in the blood #Low level of hydroxyproline in the blood\n", + " definition of HP:0500140 (Decreased circulating hydroxyproline concentration)\n", + " \n", + " \n", + " Congenital bullous ichthyosiform erythroderma\n", + " definition of HP:0007475 (Congenital bullous ichthyosiform erythroderma)\n", + " \n", + " \n", + " An ichthyosiform abnormality of the skin that presents at birth or shortly thereafter with generalized erythema, blistering, erosions, and peeling. In the subsequent months, erythema and blistering improves but patients go on to develop hyperkeratotic scaling that is especially prominent along the joint flexures, neck, hands and feet.\n", + " definition of HP:0007475 (Congenital bullous ichthyosiform erythroderma)\n", + " \n", + " \n", + " #Bullous congenital ichthyosiform erythroderma #Epidermolytic hyperkeratosis\n", + " definition of HP:0007475 (Congenital bullous ichthyosiform erythroderma)\n", + " \n", + " \n", + " Absent hippocampal commissure\n", + " definition of HP:0033646 (Absent hippocampal commissure)\n", + " \n", + " \n", + " Absence of the fibers that connect the contralateral hippocampi via the crura of the fornix and run beneath the posterior portion of the corpus callosum.\n", + " definition of HP:0033646 (Absent hippocampal commissure)\n", + " \n", + " \n", + " #Agenesis of the hippocampal commissure\n", + " definition of HP:0033646 (Absent hippocampal commissure)\n", + " \n", + " \n", + " Hyporeflective spaces on macular OCT\n", + " definition of HP:0030625 (Hyporeflective spaces on macular OCT)\n", + " \n", + " \n", + " Corneal dystrophy\n", + " definition of HP:0001131 (Corneal dystrophy)\n", + " \n", + " \n", + " The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea.\n", + " definition of HP:0001131 (Corneal dystrophy)\n", + " \n", + " \n", + " Submucous cleft palate\n", + " definition of HP:5201016 (Submucous cleft palate)\n", + " \n", + " \n", + " A cleft of the muscular portion of the palate that is covered by mucous membrane.\n", + " definition of HP:5201016 (Submucous cleft palate)\n", + " \n", + " \n", + " Corpus cavernosum hypoplasia\n", + " definition of HP:4000094 (Corpus cavernosum hypoplasia)\n", + " \n", + " \n", + " A developmental anomaly characterized by undergrowth of the corpus cavernosum.\n", + " definition of HP:4000094 (Corpus cavernosum hypoplasia)\n", + " \n", + " \n", + " Renal cortical cysts\n", + " definition of HP:0000803 (Renal cortical cysts)\n", + " \n", + " \n", + " Cysts of the cortex of the kidney.\n", + " definition of HP:0000803 (Renal cortical cysts)\n", + " \n", + " \n", + " #Cortical cysts\n", + " definition of HP:0000803 (Renal cortical cysts)\n", + " \n", + " \n", + " Tessier number 14 facial cleft\n", + " definition of HP:0031586 (Tessier number 14 facial cleft)\n", + " \n", + " \n", + " This midline cranial cleft usually occurs with a midline facial cleft that completes a median craniofacial dysraphia. A broad nasal root and bifid nose are associated with orbital hypertelorism and a median frontal encephalocele. The frontal bone abnormality varies from a minor flattening to a large midline defect. There is an increased distance between the olfactory grooves. The crista galli is widened, duplicated, or in some cases absent. Marked inferior prolapse of the enlarged ethmoid bone occurs with orbital hypertelorism. The severe orbital hypertelorism is associated with a broad flattening of the glabella and extreme lateral displacement of the inner canthi. The periorbita, including the eyelids and eyebrows, are otherwise normal. A long midline projection of the frontal hairline marks the superior extent of the soft tissue features of this midline cranial cleft. The median frontal defect delineates the region through which the frontal encephalocele herniates. The lateral segments of the frontal bone sweep upward from the region of the intact glabella and are flattened laterally. No pneumatization of the frontal sinus is evident. The crista galli and the perpendicular plate of the ethmoid are bifid. Just as the ethmoid, including the cribriform plate, is widened and caudally displaced, the sphenoid sinus is broadened and extensively, but symmetrically pneumatized. The lateral rotation of the greater and lesser wings of the sphenoid results in a relative shortening of the anteroposterior dimension of the middle cranial fossa. The floor of the anterior cranial fossa is upslanting from its medial aspect to its lateral aspect, with a harlequin appearance on the coronal scan.\n", + " definition of HP:0031586 (Tessier number 14 facial cleft)\n", + " \n", + " \n", + " #Tessier facial cleft number 14\n", + " definition of HP:0031586 (Tessier number 14 facial cleft)\n", + " \n", + " \n", + " Homer Wright rosette\n", + " definition of HP:0031926 (Homer Wright rosette)\n", + " \n", + " \n", + " A type of rosette in which the central lumen or hub is filled with fiber-like processes.\n", + " definition of HP:0031926 (Homer Wright rosette)\n", + " \n", + " \n", + " Jejunitis\n", + " definition of HP:0033143 (Jejunitis)\n", + " \n", + " \n", + " Inflammation of the lining of the middle section of the small intestine.\n", + " definition of HP:0033143 (Jejunitis)\n", + " \n", + " \n", + " Recurrent cystitis\n", + " definition of HP:0012786 (Recurrent cystitis)\n", + " \n", + " \n", + " Repeated infections of the urinary bladder.\n", + " definition of HP:0012786 (Recurrent cystitis)\n", + " \n", + " \n", + " #Recurrent bladder infections\n", + " definition of HP:0012786 (Recurrent cystitis)\n", + " \n", + " \n", + " Spatial pattern\n", + " definition of HP:0012836 (Spatial pattern)\n", + " \n", + " \n", + " The pattern by which a phenotype affects one or more regions of the body.\n", + " definition of HP:0012836 (Spatial pattern)\n", + " \n", + " \n", + " Abnormal urinary 1-methylhistidine concentration\n", + " definition of HP:0410313 (Abnormal urinary 1-methylhistidine concentration)\n", + " \n", + " \n", + " Abnormal concentration of 1-methylhistidine in the urine.\n", + " definition of HP:0410313 (Abnormal urinary 1-methylhistidine concentration)\n", + " \n", + " \n", + " Autonomic epileptic aura\n", + " definition of HP:0033722 (Autonomic epileptic aura)\n", + " \n", + " \n", + " An autonomic epileptic aura is a purely subjective manifestation of an epileptic seizure pertaining to autonomic nervous system function. Autonomic auras include cardiorespiratory (e.g., palpitations and shortness of breath), gastrointestinal, genitourinary (genital sensations, urinary urge), and cutaneous (feeling of warmth or cold) sensations. Abdominal auras constitute the most common type of autonomic aura. These include sensations of nausea, pain, or indescribable discomfort in the abdominal or periumbilical area that can be static, rise to the chest and throat, or descend into the lower abdominal region.\n", + " definition of HP:0033722 (Autonomic epileptic aura)\n", + " \n", + " \n", + " #Autonomic aura #Autonomic auras #Vegetative aura\n", + " definition of HP:0033722 (Autonomic epileptic aura)\n", + " \n", + " \n", + " Neuropathic pain\n", + " definition of HP:6000040 (Neuropathic pain)\n", + " \n", + " \n", + " Neuropathic pain is triggered by lesions to the somatosensory nervous system that alter its structure and function so that pain occurs spontaneously and responses to noxious and innocuous stimuli are pathologically amplified.\n", + " definition of HP:6000040 (Neuropathic pain)\n", + " \n", + " \n", + " Pulmonary hamartoma\n", + " definition of HP:0034710 (Pulmonary hamartoma)\n", + " \n", + " \n", + " A benign malformation of the lung that includes an abnormal mixture of tissue components such as cartilage, epithelium, fat, or muscle which are common to the lung but without preservation of the organ architecture.\n", + " definition of HP:0034710 (Pulmonary hamartoma)\n", + " \n", + " \n", + " Bilateral perisylvian polymicrogyria\n", + " definition of HP:0032407 (Bilateral perisylvian polymicrogyria)\n", + " \n", + " \n", + " A type of perisylvian polymicrogyria that affects both sides of the brain.\n", + " definition of HP:0032407 (Bilateral perisylvian polymicrogyria)\n", + " \n", + " \n", + " Upper limb hypertonia\n", + " definition of HP:0200049 (Upper limb hypertonia)\n", + " \n", + " \n", + " Increased muscle tone observed in the arms of the affected person.\n", + " definition of HP:0200049 (Upper limb hypertonia)\n", + " \n", + " \n", + " Reduced erythrocyte adenosine triphosphate concentration\n", + " definition of HP:4000184 (Reduced erythrocyte adenosine triphosphate concentration)\n", + " \n", + " \n", + " Concentration of adenosine triphosphate (ATP) in red blood cells (erythrocytes) below the lower limit of normal.\n", + " definition of HP:4000184 (Reduced erythrocyte adenosine triphosphate concentration)\n", + " \n", + " \n", + " Pulmonary pneumatocele\n", + " definition of HP:0025419 (Pulmonary pneumatocele)\n", + " \n", + " \n", + " A pneumatocele is a thin walled, gas-filled space in the lung. It is most frequently caused by acute pneumonia, trauma, or aspiration of hydrocarbon fluid and is usually transient. The mechanism is believed to be a combination of parenchymal necrosis and check-valve airway obstruction. A pneumatocele appears as an approximately round, thin-walled airspace in the lung.\n", + " definition of HP:0025419 (Pulmonary pneumatocele)\n", + " \n", + " \n", + " #Pulmonary pneumatocoele\n", + " definition of HP:0025419 (Pulmonary pneumatocele)\n", + " \n", + " \n", + " Anhidrosis\n", + " definition of HP:0000970 (Anhidrosis)\n", + " \n", + " \n", + " Inability to sweat.\n", + " definition of HP:0000970 (Anhidrosis)\n", + " \n", + " \n", + " #Anhydrosis #Lack of sweating #Sudomotor dysfunction #Sweating dysfunction\n", + " definition of HP:0000970 (Anhidrosis)\n", + " \n", + " \n", + " Retinal exudate\n", + " definition of HP:0001147 (Retinal exudate)\n", + " \n", + " \n", + " Fluid which has escaped from retinal blood vessels with a high concentration of lipid, protein, and cellular debris with a typically bright, reflective, white or cream colored appearance on the surface of the retina.\n", + " definition of HP:0001147 (Retinal exudate)\n", + " \n", + " \n", + " #Retinal exudates\n", + " definition of HP:0001147 (Retinal exudate)\n", + " \n", + " \n", + " Hyperuricemia\n", + " definition of HP:0002149 (Hyperuricemia)\n", + " \n", + " \n", + " An abnormally high level of uric acid in the blood.\n", + " definition of HP:0002149 (Hyperuricemia)\n", + " \n", + " \n", + " #High blood uric acid level #Hyperuricaemia\n", + " definition of HP:0002149 (Hyperuricemia)\n", + " \n", + " \n", + " Ivory epiphysis of the proximal phalanx of the 4th finger\n", + " definition of HP:0009267 (Ivory epiphysis of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " Sclerosis of the epiphysis of the proximal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.\n", + " definition of HP:0009267 (Ivory epiphysis of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " #Increased bone density of end part of the innermost ring finger bone\n", + " definition of HP:0009267 (Ivory epiphysis of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " Animal protein allergy\n", + " definition of HP:0410320 (Animal protein allergy)\n", + " \n", + " \n", + " Hypersensitivity in form of an adverse immune reaction against animal proteins.\n", + " definition of HP:0410320 (Animal protein allergy)\n", + " \n", + " \n", + " #Allergy to animal proteins #Animal protein allergy #IgE-mediated animal protein allergy #Immunoglobulin E-mediated animal protein allergy\n", + " definition of HP:0410320 (Animal protein allergy)\n", + " \n", + " \n", + " Increased CSF homovanillic acid concentration\n", + " definition of HP:0034201 (Increased CSF homovanillic acid concentration)\n", + " \n", + " \n", + " Elevated concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine.\n", + " definition of HP:0034201 (Increased CSF homovanillic acid concentration)\n", + " \n", + " \n", + " Fractured proximal phalanx of digit 3\n", + " definition of HP:0041212 (Fractured proximal phalanx of digit 3)\n", + " \n", + " \n", + " A partial or complete breakage of the proximal phalanx of digit 3.\n", + " definition of HP:0041212 (Fractured proximal phalanx of digit 3)\n", + " \n", + " \n", + " #bone proximal phalanx of digit 3\n", + " definition of HP:0041212 (Fractured proximal phalanx of digit 3)\n", + " \n", + " \n", + " Decreased CSF isoleucine concentration\n", + " definition of HP:0500194 (Decreased CSF isoleucine concentration)\n", + " \n", + " \n", + " Abnormally decreased levels of isoleucine in cerebrospinal fluid.\n", + " definition of HP:0500194 (Decreased CSF isoleucine concentration)\n", + " \n", + " \n", + " #Low levels of isoleucine in cerebrospinal fluid\n", + " definition of HP:0500194 (Decreased CSF isoleucine concentration)\n", + " \n", + " \n", + " Abnormal circulating sarcosine concentration\n", + " definition of HP:0010898 (Abnormal circulating sarcosine concentration)\n", + " \n", + " \n", + " An deviation from the normal concentration of sarcosine in the blood circulation.\n", + " definition of HP:0010898 (Abnormal circulating sarcosine concentration)\n", + " \n", + " \n", + " Loss of subcutaneous adipose tissue from upper limbs\n", + " definition of HP:0009056 (Loss of subcutaneous adipose tissue from upper limbs)\n", + " \n", + " \n", + " #Loss of fat tissue below the skin from upper limbs\n", + " definition of HP:0009056 (Loss of subcutaneous adipose tissue from upper limbs)\n", + " \n", + " \n", + " Decreased sensory nerve conduction velocity\n", + " definition of HP:0003448 (Decreased sensory nerve conduction velocity)\n", + " \n", + " \n", + " Reduced speed of conduction of the action potential along a sensory nerve.\n", + " definition of HP:0003448 (Decreased sensory nerve conduction velocity)\n", + " \n", + " \n", + " #Decreased sensory NCV #Decreased sensory nerve conduction velocities\n", + " definition of HP:0003448 (Decreased sensory nerve conduction velocity)\n", + " \n", + " \n", + " Calcified amorphous tumor of the heart\n", + " definition of HP:0031351 (Calcified amorphous tumor of the heart)\n", + " \n", + " \n", + " A non-neoplastic cardiac tumor characterized by calcification and eosinophilic amorphous material in the background of dense collagenous fibrous tissue.\n", + " definition of HP:0031351 (Calcified amorphous tumor of the heart)\n", + " \n", + " \n", + " #Calcified amorphous tumour of the heart\n", + " definition of HP:0031351 (Calcified amorphous tumor of the heart)\n", + " \n", + " \n", + " Restrictive partial external ophthalmoplegia\n", + " definition of HP:0007867 (Restrictive partial external ophthalmoplegia)\n", + " \n", + " \n", + " Fibrosis of only some of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position.\n", + " definition of HP:0007867 (Restrictive partial external ophthalmoplegia)\n", + " \n", + " \n", + " Musty odor\n", + " definition of HP:0410021 (Musty odor)\n", + " \n", + " \n", + " Pungent body odor.\n", + " definition of HP:0410021 (Musty odor)\n", + " \n", + " \n", + " #Musty odor\n", + " definition of HP:0410021 (Musty odor)\n", + " \n", + " \n", + " Leukopenia\n", + " definition of HP:0001882 (Leukopenia)\n", + " \n", + " \n", + " An abnormal decreased number of leukocytes in the blood.\n", + " definition of HP:0001882 (Leukopenia)\n", + " \n", + " \n", + " #Decreased blood leukocyte number #Low white blood cell count\n", + " definition of HP:0001882 (Leukopenia)\n", + " \n", + " \n", + " Abnormal cerebral artery morphology\n", + " definition of HP:0009145 (Abnormal cerebral artery morphology)\n", + " \n", + " \n", + " Any structural anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery.\n", + " definition of HP:0009145 (Abnormal cerebral artery morphology)\n", + " \n", + " \n", + " #Abnormality of cerebral artery #Abnormality of the cerebral arteries\n", + " definition of HP:0009145 (Abnormal cerebral artery morphology)\n", + " \n", + " \n", + " Tetralogy of Fallot with pulmonary stenosis\n", + " definition of HP:0011679 (Tetralogy of Fallot with pulmonary stenosis)\n", + " \n", + " \n", + " The commonest form of tetralogy of Fallot characterized by pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy, without pulmonary atresia, absent pulmonary valve, atrioventricular canal defect or absent subarterial conus.\n", + " definition of HP:0011679 (Tetralogy of Fallot with pulmonary stenosis)\n", + " \n", + " \n", + " Fragile teeth\n", + " definition of HP:0025124 (Fragile teeth)\n", + " \n", + " \n", + " A tendency of teeth to fracture as manifested by a history of repeated fracture of the dental enamel without adequate trauma.\n", + " definition of HP:0025124 (Fragile teeth)\n", + " \n", + " \n", + " #Enamel with tendency to chip #Spontaneous tooth fracture\n", + " definition of HP:0025124 (Fragile teeth)\n", + " \n", + " \n", + " Upper limb muscle hypertrophy\n", + " definition of HP:0040265 (Upper limb muscle hypertrophy)\n", + " \n", + " \n", + " Abnormal increase in muscle size and mass of one or both arms not due to training.\n", + " definition of HP:0040265 (Upper limb muscle hypertrophy)\n", + " \n", + " \n", + " Painful subcutaneous lipomas\n", + " definition of HP:0007596 (Painful subcutaneous lipomas)\n", + " \n", + " \n", + " The presence of multiple subcutaneous lipoma that cause pain.\n", + " definition of HP:0007596 (Painful subcutaneous lipomas)\n", + " \n", + " \n", + " #Painful noncancerous fat tissue tumor under the skin #Painful noncancerous fat tissue tumour under the skin\n", + " definition of HP:0007596 (Painful subcutaneous lipomas)\n", + " \n", + " \n", + " Acute lymphoblastic leukemia\n", + " definition of HP:0006721 (Acute lymphoblastic leukemia)\n", + " \n", + " \n", + " A form of acute leukemia characterized by excess lympoblasts.\n", + " definition of HP:0006721 (Acute lymphoblastic leukemia)\n", + " \n", + " \n", + " #Acute lymphatic leukaemia #Acute lymphatic leukemia #Acute lymphoblastic leukaemia #Acute lymphocytic leukaemia #Acute lymphocytic leukemia #Acute lymphoid leukaemia #Acute lymphoid leukemia\n", + " definition of HP:0006721 (Acute lymphoblastic leukemia)\n", + " \n", + " \n", + " Epithelial neoplasm\n", + " definition of HP:0031492 (Epithelial neoplasm)\n", + " \n", + " \n", + " A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas [NCIT:C3709].\n", + " definition of HP:0031492 (Epithelial neoplasm)\n", + " \n", + " \n", + " Hypothermia\n", + " definition of HP:0002045 (Hypothermia)\n", + " \n", + " \n", + " Reduced body temperature due to failed thermoregulation.\n", + " definition of HP:0002045 (Hypothermia)\n", + " \n", + " \n", + " #Abnormally low body temperature #Hypothermia\n", + " definition of HP:0002045 (Hypothermia)\n", + " \n", + " \n", + " Elevated circulating alkaline phosphatase concentration\n", + " definition of HP:0003155 (Elevated circulating alkaline phosphatase concentration)\n", + " \n", + " \n", + " Abnormally increased serum levels of alkaline phosphatase activity.\n", + " definition of HP:0003155 (Elevated circulating alkaline phosphatase concentration)\n", + " \n", + " \n", + " #Elevated alkaline phosphatase #Elevated ALP #Greatly elevated alkaline phosphatase #High serum alkaline phosphatase #Hyperphosphatasemia #Hyperphosphatasia #Increased alkaline phosphatase #Increased serum alkaline phosphatase\n", + " definition of HP:0003155 (Elevated circulating alkaline phosphatase concentration)\n", + " \n", + " \n", + " Abnormal anus morphology\n", + " definition of HP:0034915 (Abnormal anus morphology)\n", + " \n", + " \n", + " A structural anomaly of the anus.\n", + " definition of HP:0034915 (Abnormal anus morphology)\n", + " \n", + " \n", + " Cardiac polyglucosan accumulation\n", + " definition of HP:0034835 (Cardiac polyglucosan accumulation)\n", + " \n", + " \n", + " Accumulation of a poorly branched and poorly spherical amylopectin-like glycogen (polyglucosan) in myocardial tissue.\n", + " definition of HP:0034835 (Cardiac polyglucosan accumulation)\n", + " \n", + " \n", + " Decreased lymph node lymphocyte cytoplasm\n", + " definition of HP:0020285 (Decreased lymph node lymphocyte cytoplasm)\n", + " \n", + " \n", + " The amount of cytoplasm in lymphocytes is even less than the relatively little cytoplasm found in the majority of lymphocytes within lymph nodes.\n", + " definition of HP:0020285 (Decreased lymph node lymphocyte cytoplasm)\n", + " \n", + " \n", + " #Scant lymph node lymphocyte cytoplasm\n", + " definition of HP:0020285 (Decreased lymph node lymphocyte cytoplasm)\n", + " \n", + " \n", + " Abnormal CSF phenylalanine concentration\n", + " definition of HP:0500215 (Abnormal CSF phenylalanine concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of phenylalanine in the cerebrospinal fluid.\n", + " definition of HP:0500215 (Abnormal CSF phenylalanine concentration)\n", + " \n", + " \n", + " #Abnormal phenylalanine levels in cerebrospinal fluid\n", + " definition of HP:0500215 (Abnormal CSF phenylalanine concentration)\n", + " \n", + " \n", + " Aortic medial fibrosis\n", + " definition of HP:0032089 (Aortic medial fibrosis)\n", + " \n", + " \n", + " An increase in collagen fibers creating areas of substitutive fibrosis or a widening of intralamellar spaces in the media of the aorta. This can be seen in conjunction with a loss to varying degrees of parallel arrangement of the elastic lamellae (or lamellar units).\n", + " definition of HP:0032089 (Aortic medial fibrosis)\n", + " \n", + " \n", + " Recurrent upper and lower respiratory tract infections\n", + " definition of HP:0200117 (Recurrent upper and lower respiratory tract infections)\n", + " \n", + " \n", + " Increased susceptibility to upper and lower respiratory tract infections, as manifested by recurrent episodes of upper and lower respiratory tract infections.\n", + " definition of HP:0200117 (Recurrent upper and lower respiratory tract infections)\n", + " \n", + " \n", + " Lymphocytic interstitial pneumonia\n", + " definition of HP:0006527 (Lymphocytic interstitial pneumonia)\n", + " \n", + " \n", + " Lymphocytic interstitial pneumonitis is a benign lymphoproliferative disorder of the lung that is characterized by the presence of a dense, predominantly lymphocytic interstitial infiltrate (lymphocytes, plasma cells, other elements of the lymphoreticular system) that expands the alveolar septa.\n", + " definition of HP:0006527 (Lymphocytic interstitial pneumonia)\n", + " \n", + " \n", + " #Lymphocytic interstitial pneumonitis #Lymphoid interstitial pneumonia #Lymphoid interstitial pneumonitis\n", + " definition of HP:0006527 (Lymphocytic interstitial pneumonia)\n", + " \n", + " \n", + " Abnormal platelet morphology\n", + " definition of HP:0011875 (Abnormal platelet morphology)\n", + " \n", + " \n", + " An anomaly in platelet form, ultrastructure, or intracellular organelles.\n", + " definition of HP:0011875 (Abnormal platelet morphology)\n", + " \n", + " \n", + " #Abnormal shape of platelets\n", + " definition of HP:0011875 (Abnormal platelet morphology)\n", + " \n", + " \n", + " Fetal cystic hygroma\n", + " definition of HP:0010878 (Fetal cystic hygroma)\n", + " \n", + " \n", + " The presence during the prenatal period of a cystic mass with multiple septa with multiple, asymmetric, thin-walled cysts near the posterior aspect of the neck. Fetal cystic hygroma can be defined as nuchal translucency with or without septations measuring greater than 3.0 mm. Increased NT refers to a measurement above the 95th centile, and the term is used irrespective of whether the collection of fluid is septated or not, and whether it is confined to the neck or envelopes the whole fetus. After 14 weeks, increased NT usually resolves, but in some cases it evolves into nuchal edema or cystic hygromas.\n", + " definition of HP:0010878 (Fetal cystic hygroma)\n", + " \n", + " \n", + " #Foetal cystic hygroma\n", + " definition of HP:0010878 (Fetal cystic hygroma)\n", + " \n", + " \n", + " Intraluminal meconium calcification\n", + " definition of HP:0034547 (Intraluminal meconium calcification)\n", + " \n", + " \n", + " Deposition of calcium in meconium present in the internal cavity of the fetal bowel. This manifestation may be the result of any distal intestinal obstruction.\n", + " definition of HP:0034547 (Intraluminal meconium calcification)\n", + " \n", + " \n", + " Oral ulcer\n", + " definition of HP:0000155 (Oral ulcer)\n", + " \n", + " \n", + " Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue.\n", + " definition of HP:0000155 (Oral ulcer)\n", + " \n", + " \n", + " #Mouth ulcer #Oral mucosal ulceration\n", + " definition of HP:0000155 (Oral ulcer)\n", + " \n", + " \n", + " Pill-rolling tremor\n", + " definition of HP:0025387 (Pill-rolling tremor)\n", + " \n", + " \n", + " A type of resting tremor characterized by simultaneous rubbing movements of thumb and index fingers against each other.\n", + " definition of HP:0025387 (Pill-rolling tremor)\n", + " \n", + " \n", + " #Pill rolling\n", + " definition of HP:0025387 (Pill-rolling tremor)\n", + " \n", + " \n", + " Synovial sarcoma\n", + " definition of HP:0012570 (Synovial sarcoma)\n", + " \n", + " \n", + " A type of mesenchymal tissue cell tumor that exhibits epithelial differentiation, which most frequently arises in the extremities.\n", + " definition of HP:0012570 (Synovial sarcoma)\n", + " \n", + " \n", + " #Malignant synovioma\n", + " definition of HP:0012570 (Synovial sarcoma)\n", + " \n", + " \n", + " Facial muscle hypertrophy\n", + " definition of HP:0012892 (Facial muscle hypertrophy)\n", + " \n", + " \n", + " Hypertrophy of one or more muscles innervated by the facial nerve (the seventh cranial nerve).\n", + " definition of HP:0012892 (Facial muscle hypertrophy)\n", + " \n", + " \n", + " #Increased size of facial muscles #Large facial muscles\n", + " definition of HP:0012892 (Facial muscle hypertrophy)\n", + " \n", + " \n", + " Head-banging\n", + " definition of HP:0012168 (Head-banging)\n", + " \n", + " \n", + " Habitual striking of one's own head against a surface such as a mattress or wall of a crib.\n", + " definition of HP:0012168 (Head-banging)\n", + " \n", + " \n", + " Hypoglycemic encephalopathy\n", + " definition of HP:0006929 (Hypoglycemic encephalopathy)\n", + " \n", + " \n", + " Brain damage related to a lowering of blood glucose below a critical level (around 30 mg/dl), which may lead to confusion, lethargy and delirium followed by seizures and coma. Prolonged hypoglycemia may lead to irreversible brain damage.\n", + " definition of HP:0006929 (Hypoglycemic encephalopathy)\n", + " \n", + " \n", + " Reduced circulating interleukin 9 concentration\n", + " definition of HP:0034161 (Reduced circulating interleukin 9 concentration)\n", + " \n", + " \n", + " An abnormally decreased concentration of interleukin 9 in the blood circulation.\n", + " definition of HP:0034161 (Reduced circulating interleukin 9 concentration)\n", + " \n", + " \n", + " Reduced circulating dopamine beta-hydroxylase activity\n", + " definition of HP:6000556 (Reduced circulating dopamine beta-hydroxylase activity)\n", + " \n", + " \n", + " Concentration of Dopamine beta-hydroxylase (DBH; EC 1.14.17.1) in the blood circulation below the lower limit of normal. DBH catalyzes the oxidative hydroxylation of dopamine to norepinephrine.\n", + " definition of HP:6000556 (Reduced circulating dopamine beta-hydroxylase activity)\n", + " \n", + " \n", + " Uterine arteriovenous malformation\n", + " definition of HP:0031347 (Uterine arteriovenous malformation)\n", + " \n", + " \n", + " An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the uterus.\n", + " definition of HP:0031347 (Uterine arteriovenous malformation)\n", + " \n", + " \n", + " Coved type ST segment elevation\n", + " definition of HP:6000984 (Coved type ST segment elevation)\n", + " \n", + " \n", + " An ST-segment elevation of at least 2 mm in at least one right precordial lead (V1 to V3), followed by an r'-wave and a concave or straight ST segment. The descending ST segment crosses the isoelectric line and is followed by a negative and symmetric T-wave.\n", + " definition of HP:6000984 (Coved type ST segment elevation)\n", + " \n", + " \n", + " Congenital adrenal hypoplasia\n", + " definition of HP:0008244 (Congenital adrenal hypoplasia)\n", + " \n", + " \n", + " A type of adrenal hypoplasia with congenital onset.\n", + " definition of HP:0008244 (Congenital adrenal hypoplasia)\n", + " \n", + " \n", + " #Congenital adrenal gland hypoplasia\n", + " definition of HP:0008244 (Congenital adrenal hypoplasia)\n", + " \n", + " \n", + " Decreased amplitude of sensory action potentials\n", + " definition of HP:0007078 (Decreased amplitude of sensory action potentials)\n", + " \n", + " \n", + " A reduction in the amplitude of sensory nerve action potential. This feature is measured by nerve conduction studies.\n", + " definition of HP:0007078 (Decreased amplitude of sensory action potentials)\n", + " \n", + " \n", + " Distal ulnar epiphyseal stippling\n", + " definition of HP:0006370 (Distal ulnar epiphyseal stippling)\n", + " \n", + " \n", + " The presence of abnormal punctate (speckled, dot-like) calcifications in the distal epiphysis of the ulna.\n", + " definition of HP:0006370 (Distal ulnar epiphyseal stippling)\n", + " \n", + " \n", + " #Distal ulnar epiphyseal calcifications\n", + " definition of HP:0006370 (Distal ulnar epiphyseal stippling)\n", + " \n", + " \n", + " Cleft anterior mitral valve leaflet\n", + " definition of HP:0011569 (Cleft anterior mitral valve leaflet)\n", + " \n", + " \n", + " Cleft in the anterior mitral valve leaflet not associated with an atrioventricular canal defect.\n", + " definition of HP:0011569 (Cleft anterior mitral valve leaflet)\n", + " \n", + " \n", + " Nonepidermolytic palmoplantar hyperkeratosis\n", + " definition of HP:0007404 (Nonepidermolytic palmoplantar hyperkeratosis)\n", + " \n", + " \n", + " Abnormal thickening of the skin on the palms and soles charactersized by hyperkeratosis of the stratum corneum with no evidence of epidermolysis characteristic of epidermolytic hyperkeratosis.\n", + " definition of HP:0007404 (Nonepidermolytic palmoplantar hyperkeratosis)\n", + " \n", + " \n", + " #Nonepidermolytic palmoplantar keratoderma\n", + " definition of HP:0007404 (Nonepidermolytic palmoplantar hyperkeratosis)\n", + " \n", + " \n", + " Abnormal CSF citrulline concentration\n", + " definition of HP:0500245 (Abnormal CSF citrulline concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of citrulline in the cerebrospinal fluid.\n", + " definition of HP:0500245 (Abnormal CSF citrulline concentration)\n", + " \n", + " \n", + " #Abnormal citrulline levels in cerebrospinal fluid\n", + " definition of HP:0500245 (Abnormal CSF citrulline concentration)\n", + " \n", + " \n", + " Abnormal epidermal morphology\n", + " definition of HP:0011124 (Abnormal epidermal morphology)\n", + " \n", + " \n", + " An abnormality of the morphology of the epidermis.\n", + " definition of HP:0011124 (Abnormal epidermal morphology)\n", + " \n", + " \n", + " #Abnormality of epidermal morphology\n", + " definition of HP:0011124 (Abnormal epidermal morphology)\n", + " \n", + " \n", + " Digital pitting scar\n", + " definition of HP:0031293 (Digital pitting scar)\n", + " \n", + " \n", + " Pinhole-sized concave depressions with hyperkeratosis in the skin of a finger or toe.\n", + " definition of HP:0031293 (Digital pitting scar)\n", + " \n", + " \n", + " Ectopic posterior pituitary\n", + " definition of HP:0011755 (Ectopic posterior pituitary)\n", + " \n", + " \n", + " An abnormal anatomical location of the posterior lobe of the hypophysis, also known as the neurohypophysis. The posterior pituitary is normally present in the dorsal portion of the sella turcica, but when ectopic is usually near the median eminence. This defect is likely to be due to abnormal migration during embryogenesis.\n", + " definition of HP:0011755 (Ectopic posterior pituitary)\n", + " \n", + " \n", + " #Ectopic neurohypophysis #Ectopic posterior pituitary lobe\n", + " definition of HP:0011755 (Ectopic posterior pituitary)\n", + " \n", + " \n", + " Increased fecal porphyrin\n", + " definition of HP:0032999 (Increased fecal porphyrin)\n", + " \n", + " \n", + " Abnormally high concentration of fecal porphyrins in feces.\n", + " definition of HP:0032999 (Increased fecal porphyrin)\n", + " \n", + " \n", + " #Increased faecal porphyrin\n", + " definition of HP:0032999 (Increased fecal porphyrin)\n", + " \n", + " \n", + " Abnormal aortic arch morphology\n", + " definition of HP:0012303 (Abnormal aortic arch morphology)\n", + " \n", + " \n", + " An anomaly of the arch of aorta.\n", + " definition of HP:0012303 (Abnormal aortic arch morphology)\n", + " \n", + " \n", + " #Abnormality of the aortic arch\n", + " definition of HP:0012303 (Abnormal aortic arch morphology)\n", + " \n", + " \n", + " Heteronymous hemianopia\n", + " definition of HP:0030517 (Heteronymous hemianopia)\n", + " \n", + " \n", + " #Heteronymous hemianopsia\n", + " definition of HP:0030517 (Heteronymous hemianopia)\n", + " \n", + " \n", + " Retinopathy of prematurity\n", + " definition of HP:0500049 (Retinopathy of prematurity)\n", + " \n", + " \n", + " An avascular or abnormally vascularized retina that occurs in premature infants and can lead to blindness.\n", + " definition of HP:0500049 (Retinopathy of prematurity)\n", + " \n", + " \n", + " Dural tail sign\n", + " definition of HP:0032268 (Dural tail sign)\n", + " \n", + " \n", + " This sign represents thickening and enhancement of the dura mater in continuity with a mass, which on MR images, gives the appearance of a tail arising from the mass. The dural tail is thought to represent reactive change; however, it may also be due to tumor invasion. Three criteria need to be met for a positive dural tail sign: the tail should be seen on two successive images through the tumor, it should taper away from the tumor, and it must enhance more than the tumor.\n", + " definition of HP:0032268 (Dural tail sign)\n", + " \n", + " \n", + " Reduced awareness of convention\n", + " definition of HP:5200022 (Reduced awareness of convention)\n", + " \n", + " \n", + " Reduced awareness of expected conventions, which are normal and expected for particular social settings or interactions.\n", + " definition of HP:5200022 (Reduced awareness of convention)\n", + " \n", + " \n", + " Perifolliculitis\n", + " definition of HP:0012322 (Perifolliculitis)\n", + " \n", + " \n", + " Inflammation surrounding hair follicles.\n", + " definition of HP:0012322 (Perifolliculitis)\n", + " \n", + " \n", + " #Perifollicular inflammation\n", + " definition of HP:0012322 (Perifolliculitis)\n", + " \n", + " \n", + " Time agnosia\n", + " definition of HP:5200403 (Time agnosia)\n", + " \n", + " \n", + " The inability to perceive the passage of time is usually due to a disorder involving the temporal area of the brain.\n", + " definition of HP:5200403 (Time agnosia)\n", + " \n", + " \n", + " Skeletal dysplasia\n", + " definition of HP:0002652 (Skeletal dysplasia)\n", + " \n", + " \n", + " A general term describing features characterized by abnormal development of bones and connective tissues.\n", + " definition of HP:0002652 (Skeletal dysplasia)\n", + " \n", + " \n", + " Absent epididymidis\n", + " definition of HP:0034480 (Absent epididymidis)\n", + " \n", + " \n", + " #Absent epididymides #Epididymides absent\n", + " definition of HP:0034480 (Absent epididymidis)\n", + " \n", + " \n", + " Diet-resistant subcutaneous adipose tissue\n", + " definition of HP:0025384 (Diet-resistant subcutaneous adipose tissue)\n", + " \n", + " \n", + " Areas of subcutanous fat tissue that are resistant to (do not respond as expected to) diet, life-style alteration, or bariatric surgery.\n", + " definition of HP:0025384 (Diet-resistant subcutaneous adipose tissue)\n", + " \n", + " \n", + " Proximal/middle symphalangism of 3rd toe\n", + " definition of HP:0100480 (Proximal/middle symphalangism of 3rd toe)\n", + " \n", + " \n", + " Bony fusion of the middle and proximal phalanges of the 3rd toe.\n", + " definition of HP:0100480 (Proximal/middle symphalangism of 3rd toe)\n", + " \n", + " \n", + " #Fused innermost and middle bones of 3rd toe #Symphalangism of the middle and proximal phalanges of the 3rd toe\n", + " definition of HP:0100480 (Proximal/middle symphalangism of 3rd toe)\n", + " \n", + " \n", + " Anorgasmia\n", + " definition of HP:0046502 (Anorgasmia)\n", + " \n", + " \n", + " Inability of individual to reach orgasm.\n", + " definition of HP:0046502 (Anorgasmia)\n", + " \n", + " \n", + " Increased level of myristic acid in serum\n", + " definition of HP:0410154 (Increased level of myristic acid in serum)\n", + " \n", + " \n", + " An increase in the level of myristic acid in the serum.\n", + " definition of HP:0410154 (Increased level of myristic acid in serum)\n", + " \n", + " \n", + " #Increased level of tetradecanoic acid in serum\n", + " definition of HP:0410154 (Increased level of myristic acid in serum)\n", + " \n", + " \n", + " Abnormal proximal convoluted tubule morphology\n", + " definition of HP:6000254 (Abnormal proximal convoluted tubule morphology)\n", + " \n", + " \n", + " Any structural anomaly of the proximal convoluted tubule, which is the first tubular component of the nephron and arises as a continuation of the Bowman space from the tubular pole of the renal corpuscle. The proximal convoluted tubule is located within the renal cortex.\n", + " definition of HP:6000254 (Abnormal proximal convoluted tubule morphology)\n", + " \n", + " \n", + " Sacral dimple\n", + " definition of HP:0000960 (Sacral dimple)\n", + " \n", + " \n", + " A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft.\n", + " definition of HP:0000960 (Sacral dimple)\n", + " \n", + " \n", + " #Pilonidal dimple #Spinal dimple\n", + " definition of HP:0000960 (Sacral dimple)\n", + " \n", + " \n", + " Weakness of orbicularis oculi muscle\n", + " definition of HP:0012507 (Weakness of orbicularis oculi muscle)\n", + " \n", + " \n", + " Reduced strength of the orbicularis oculi, the circumorbital muscle in the face that closes the eyelid.\n", + " definition of HP:0012507 (Weakness of orbicularis oculi muscle)\n", + " \n", + " \n", + " #Weakness of orbicularis oculi muscles\n", + " definition of HP:0012507 (Weakness of orbicularis oculi muscle)\n", + " \n", + " \n", + " Anterior subcapsular cataract\n", + " definition of HP:0010923 (Anterior subcapsular cataract)\n", + " \n", + " \n", + " A type of cataract affecting the anterior pole of lens immediately adjacent to ('beneath') the lens capsule.\n", + " definition of HP:0010923 (Anterior subcapsular cataract)\n", + " \n", + " \n", + " Cardiac hemangioma\n", + " definition of HP:0011673 (Cardiac hemangioma)\n", + " \n", + " \n", + " Abnormal proliferation of blood vessels within the cardiac cavities attached to the endocardium.\n", + " definition of HP:0011673 (Cardiac hemangioma)\n", + " \n", + " \n", + " Abnormal left ventricular ejection fraction\n", + " definition of HP:0034314 (Abnormal left ventricular ejection fraction)\n", + " \n", + " \n", + " Any abnormality of the left ventricular ejection fraction (LVEF), which is the fraction of chamber volume ejected in systole (stroke volume) in relation to the volume of the blood in the ventricle at the end of diastole (end-diastolic volume). Stroke volume (SV) is calculated as the difference between end-diastolic volume (EDV) and end-systolic volume (ESV). LVEF is calculated as [SV/EDV] in percent.\n", + " definition of HP:0034314 (Abnormal left ventricular ejection fraction)\n", + " \n", + " \n", + " Abnormal permanent molar morphology\n", + " definition of HP:0011071 (Abnormal permanent molar morphology)\n", + " \n", + " \n", + " An abnormality of morphology of permanent molar.\n", + " definition of HP:0011071 (Abnormal permanent molar morphology)\n", + " \n", + " \n", + " #Abnormality of permanent molar morphology #Abnormality of shape of adult molar #Abnormality of shape of permanent molar\n", + " definition of HP:0011071 (Abnormal permanent molar morphology)\n", + " \n", + " \n", + " Internal tibial torsion\n", + " definition of HP:0034372 (Internal tibial torsion)\n", + " \n", + " \n", + " #Internal tibial rotation\n", + " definition of HP:0034372 (Internal tibial torsion)\n", + " \n", + " \n", + " Conductive hearing impairment\n", + " definition of HP:0000405 (Conductive hearing impairment)\n", + " \n", + " \n", + " An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.\n", + " definition of HP:0000405 (Conductive hearing impairment)\n", + " \n", + " \n", + " #Conduction deafness #Conductive deafness #Conductive hearing loss #Hearing loss, conductive\n", + " definition of HP:0000405 (Conductive hearing impairment)\n", + " \n", + " \n", + " Bowing of the arm\n", + " definition of HP:0006488 (Bowing of the arm)\n", + " \n", + " \n", + " A bending or abnormal curvature affecting a long bone of the arm.\n", + " definition of HP:0006488 (Bowing of the arm)\n", + " \n", + " \n", + " #Bending of the arm #Bowing of the arm\n", + " definition of HP:0006488 (Bowing of the arm)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the middle phalanx of the 4th finger\n", + " definition of HP:0009299 (Aplasia/Hypoplasia of the middle phalanx of the 4th finger)\n", + " \n", + " \n", + " #Absent/small middle ring finger bone #Absent/underdeveloped middle ring finger bone\n", + " definition of HP:0009299 (Aplasia/Hypoplasia of the middle phalanx of the 4th finger)\n", + " \n", + " \n", + " Abnormality of the epiphysis of the middle phalanx of the 5th finger\n", + " definition of HP:0004224 (Abnormality of the epiphysis of the middle phalanx of the 5th finger)\n", + " \n", + " \n", + " Abnormality of the epiphysis of the middle phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx.\n", + " definition of HP:0004224 (Abnormality of the epiphysis of the middle phalanx of the 5th finger)\n", + " \n", + " \n", + " #Abnormality of the end part of middle little finger bone #Abnormality of the end part of middle pinkie finger bone #Abnormality of the end part of middle pinky finger bone\n", + " definition of HP:0004224 (Abnormality of the epiphysis of the middle phalanx of the 5th finger)\n", + " \n", + " \n", + " Maxillozygomatic hypoplasia\n", + " definition of HP:0005439 (Maxillozygomatic hypoplasia)\n", + " \n", + " \n", + " Hypoplasia of the maxillozygomatic complex.\n", + " definition of HP:0005439 (Maxillozygomatic hypoplasia)\n", + " \n", + " \n", + " #Decreased size of zygomaticomaxillary bone complex #Deficiency of zygomaticomaxillary bone complex #Hypoplasia of malar bone complex #Hypoplasia of zygomaticomaxillary complex #Underdevelopment of zygomaticomaxillary bone complex\n", + " definition of HP:0005439 (Maxillozygomatic hypoplasia)\n", + " \n", + " \n", + " Elevated circulating type I procollagen aminoterminal propeptide concentration\n", + " definition of HP:6000749 (Elevated circulating type I procollagen aminoterminal propeptide concentration)\n", + " \n", + " \n", + " The concentration of type I procollagen aminoterminal propeptide in the blood circulation is above the upper limit of normal. The aminoterminal propeptide of type I procollagen (PINP) in serum is a sensitive indicator of the synthesis of type I collagen.\n", + " definition of HP:6000749 (Elevated circulating type I procollagen aminoterminal propeptide concentration)\n", + " \n", + " \n", + " Accelerated skeletal maturation\n", + " definition of HP:0005616 (Accelerated skeletal maturation)\n", + " \n", + " \n", + " An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.\n", + " definition of HP:0005616 (Accelerated skeletal maturation)\n", + " \n", + " \n", + " #Advanced bone age #Early bone maturation\n", + " definition of HP:0005616 (Accelerated skeletal maturation)\n", + " \n", + " \n", + " Elevated urine fructose level\n", + " definition of HP:6000804 (Elevated urine fructose level)\n", + " \n", + " \n", + " Amount of fructose in the urine above the upper limit of normal.\n", + " definition of HP:6000804 (Elevated urine fructose level)\n", + " \n", + " \n", + " Dermatochalasis\n", + " definition of HP:0010750 (Dermatochalasis)\n", + " \n", + " \n", + " Loss of elasticity of the upper and lower eyelids causing the skin to sag and bulge.\n", + " definition of HP:0010750 (Dermatochalasis)\n", + " \n", + " \n", + " #Baggy eyes #Droopy eyelid skin #Extra eyelid skin #Eyelid dermatochalasia #Redundant eyelid skin\n", + " definition of HP:0010750 (Dermatochalasis)\n", + " \n", + " \n", + " Triangular mouth\n", + " definition of HP:0000207 (Triangular mouth)\n", + " \n", + " \n", + " The presence of a triangular form of the mouth.\n", + " definition of HP:0000207 (Triangular mouth)\n", + " \n", + " \n", + " #Triangular mouth #Triangular shaped mouth #Triangular shaped oral aperture\n", + " definition of HP:0000207 (Triangular mouth)\n", + " \n", + " \n", + " Short lower eyelashes\n", + " definition of HP:0040055 (Short lower eyelashes)\n", + " \n", + " \n", + " #Decreased length of lower eyelashes #Short lower eyelashes\n", + " definition of HP:0040055 (Short lower eyelashes)\n", + " \n", + " \n", + " Epicanthus superciliaris\n", + " definition of HP:0025611 (Epicanthus superciliaris)\n", + " \n", + " \n", + " A type of epicanthus in which more extensive epicanthal folds with their origins in the eyebrow cover, pass in front of and lateral to the medial canthus (middle corner of the eye).\n", + " definition of HP:0025611 (Epicanthus superciliaris)\n", + " \n", + " \n", + " Eosinophilic pneumonia\n", + " definition of HP:0032071 (Eosinophilic pneumonia)\n", + " \n", + " \n", + " The presence of eosinophils in lung tissue, generally as detected by tissue biopsy, with or without blood eosinophilia.\n", + " definition of HP:0032071 (Eosinophilic pneumonia)\n", + " \n", + " \n", + " #Eosinophilic pulmonary infiltration #Pulmonary eosinophilic infiltrate #Pulmonary eosinophilic infiltration\n", + " definition of HP:0032071 (Eosinophilic pneumonia)\n", + " \n", + " \n", + " Duplication involving bones of the feet\n", + " definition of HP:0009136 (Duplication involving bones of the feet)\n", + " \n", + " \n", + " #Duplication involving bones of the feet\n", + " definition of HP:0009136 (Duplication involving bones of the feet)\n", + " \n", + " \n", + " Cardiorespiratory arrest\n", + " definition of HP:0006543 (Cardiorespiratory arrest)\n", + " \n", + " \n", + " Femoral bowing present at birth, straightening with time\n", + " definition of HP:0005005 (Femoral bowing present at birth, straightening with time)\n", + " \n", + " \n", + " Congenital onset bending or abnormal curvature of the femur that normalizes with age.\n", + " definition of HP:0005005 (Femoral bowing present at birth, straightening with time)\n", + " \n", + " \n", + " #Bowing of thighbone at birth, straightening with time\n", + " definition of HP:0005005 (Femoral bowing present at birth, straightening with time)\n", + " \n", + " \n", + " Decreased HDL cholesterol concentration\n", + " definition of HP:0003233 (Decreased HDL cholesterol concentration)\n", + " \n", + " \n", + " An decreased concentration of high-density lipoprotein cholesterol in the blood.\n", + " definition of HP:0003233 (Decreased HDL cholesterol concentration)\n", + " \n", + " \n", + " #Decreased circulating high-density lipoprotein cholesterol #Decreased circulating high-density lipoprotein levels #Decreased HDL cholesterol #Hypoalphalipoproteinemia #Low HDL-cholesterol\n", + " definition of HP:0003233 (Decreased HDL cholesterol concentration)\n", + " \n", + " \n", + " Ventricular septal aneurysm\n", + " definition of HP:0030957 (Ventricular septal aneurysm)\n", + " \n", + " \n", + " A bowing (bulging to one side) of the interventricular septum of more than 15 mm on either side in adults and 5 mm in children during normal cardiac motion.\n", + " definition of HP:0030957 (Ventricular septal aneurysm)\n", + " \n", + " \n", + " Ulcerative colitis\n", + " definition of HP:0100279 (Ulcerative colitis)\n", + " \n", + " \n", + " A chronic inflammatory bowel disease that includes characteristic ulcers, or open sores, in the colon. The main symptom of active disease is usually constant diarrhea mixed with blood, of gradual onset and intermittent periods of exacerbated symptoms contrasting with periods that are relatively symptom-free. In contrast to Crohn's disease this special form of colitis begins in the distal parts of the rectum, spreads continually upwards and affects only mucose and submucose tissue of the colon.\n", + " definition of HP:0100279 (Ulcerative colitis)\n", + " \n", + " \n", + " #Colitis ulcerosa\n", + " definition of HP:0100279 (Ulcerative colitis)\n", + " \n", + " \n", + " Upper lip pit\n", + " definition of HP:0100268 (Upper lip pit)\n", + " \n", + " \n", + " Depression located on the vermilion of the upper lip, usually paramedian.\n", + " definition of HP:0100268 (Upper lip pit)\n", + " \n", + " \n", + " Abnormal talus morphology\n", + " definition of HP:0008365 (Abnormal talus morphology)\n", + " \n", + " \n", + " An abnormality of the talus.\n", + " definition of HP:0008365 (Abnormal talus morphology)\n", + " \n", + " \n", + " #Abnormal large bone of ankle\n", + " definition of HP:0008365 (Abnormal talus morphology)\n", + " \n", + " \n", + " Hydatidiform mole\n", + " definition of HP:0032192 (Hydatidiform mole)\n", + " \n", + " \n", + " Hydatidiform mole (HM) is an aberrant human pregnancy with absence of, or abnormal embryonic development, hydropic degeneration of chorionic villi, and excessive proliferation of the trophoblast.\n", + " definition of HP:0032192 (Hydatidiform mole)\n", + " \n", + " \n", + " Reduced production of gestures\n", + " definition of HP:4000081 (Reduced production of gestures)\n", + " \n", + " \n", + " Diminished use of typical non-verbal conversational gestures such as shaking the head to indicate no or nodding the head to indicate yes.\n", + " definition of HP:4000081 (Reduced production of gestures)\n", + " \n", + " \n", + " Phenotypic variability\n", + " definition of HP:0003812 (Phenotypic variability)\n", + " \n", + " \n", + " A variability of phenotypic features.\n", + " definition of HP:0003812 (Phenotypic variability)\n", + " \n", + " \n", + " #Clinical heterogeneity #Highly variable clinical phenotype #Highly variable phenotype #Highly variable phenotype and severity #Highly variable phenotype, even within families #Variable phenotype #Variable phenotypic severity\n", + " definition of HP:0003812 (Phenotypic variability)\n", + " \n", + " \n", + " Deviation of the 5th finger\n", + " definition of HP:0009179 (Deviation of the 5th finger)\n", + " \n", + " \n", + " Displacement of the 5th finger from its normal position.\n", + " definition of HP:0009179 (Deviation of the 5th finger)\n", + " \n", + " \n", + " #Displaced little finger #Displaced pinkie finger #Displaced pinky finger #Laterally displaced fifth finger\n", + " definition of HP:0009179 (Deviation of the 5th finger)\n", + " \n", + " \n", + " Passive dorsiflexion of the 5th finger more than 90 degrees\n", + " definition of HP:0031534 (Passive dorsiflexion of the 5th finger more than 90 degrees)\n", + " \n", + " \n", + " An abnormally increased ability to bend (dorsiflex) one's fifth finger. To assess this feature, the examiner requests to proband to extend the elbows,to bend the wrist back so that it forms a ninety degree angle to the forearm, and to extend the fingers. Then, the proband is requested to bend the fifth finger back as far as is possible without discomfort. If the angle of the fifth finger exceeds 90 degrees, this is considered to be abnormal.\n", + " definition of HP:0031534 (Passive dorsiflexion of the 5th finger more than 90 degrees)\n", + " \n", + " \n", + " Abnormal cranial suture/fontanelle morphology\n", + " definition of HP:0000235 (Abnormal cranial suture/fontanelle morphology)\n", + " \n", + " \n", + " Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments).\n", + " definition of HP:0000235 (Abnormal cranial suture/fontanelle morphology)\n", + " \n", + " \n", + " #Abnormality of the fontanelles or cranial sutures\n", + " definition of HP:0000235 (Abnormal cranial suture/fontanelle morphology)\n", + " \n", + " \n", + " Anti-cytomegalovirus antibody positivity\n", + " definition of HP:0430087 (Anti-cytomegalovirus antibody positivity)\n", + " \n", + " \n", + " The presence of antibodies in the blood circulation that react against a component of cytomegalovirus (CMV).\n", + " definition of HP:0430087 (Anti-cytomegalovirus antibody positivity)\n", + " \n", + " \n", + " #CMV antibody titer high in blood\n", + " definition of HP:0430087 (Anti-cytomegalovirus antibody positivity)\n", + " \n", + " \n", + " Abnormal glucose homeostasis\n", + " definition of HP:0011014 (Abnormal glucose homeostasis)\n", + " \n", + " \n", + " Abnormality of glucose homeostasis.\n", + " definition of HP:0011014 (Abnormal glucose homeostasis)\n", + " \n", + " \n", + " Congenital posterior occipital alopecia\n", + " definition of HP:0007534 (Congenital posterior occipital alopecia)\n", + " \n", + " \n", + " Loss of hair in the occipital region of the scalp with congenital onset.\n", + " definition of HP:0007534 (Congenital posterior occipital alopecia)\n", + " \n", + " \n", + " Hypoplasia of the gallbladder\n", + " definition of HP:0005233 (Hypoplasia of the gallbladder)\n", + " \n", + " \n", + " The presence of a hypoplastic gallbladder.\n", + " definition of HP:0005233 (Hypoplasia of the gallbladder)\n", + " \n", + " \n", + " #Hypoplastic gallbladder\n", + " definition of HP:0005233 (Hypoplasia of the gallbladder)\n", + " \n", + " \n", + " Abnormal amplitude of light-adapted flicker electroretinogram\n", + " definition of HP:0030479 (Abnormal amplitude of light-adapted flicker electroretinogram)\n", + " \n", + " \n", + " CNS hypermyelination\n", + " definition of HP:0012754 (CNS hypermyelination)\n", + " \n", + " \n", + " Increased amount of myelin in the central nervous system.\n", + " definition of HP:0012754 (CNS hypermyelination)\n", + " \n", + " \n", + " Unaided visual acuity 3.0 LogMAR\n", + " definition of HP:0030550 (Unaided visual acuity 3.0 LogMAR)\n", + " \n", + " \n", + " EEG with localized low amplitude activity\n", + " definition of HP:0010855 (EEG with localized low amplitude activity)\n", + " \n", + " \n", + " An abnormal localized reduction in amplitude of the cerebral electrical activity recorded along the scalp by electroencephalography (EEG).\n", + " definition of HP:0010855 (EEG with localized low amplitude activity)\n", + " \n", + " \n", + " #EEG with localised low amplitude activity #EEG: localised low amplitude activity #EEG: localized low amplitude activity\n", + " definition of HP:0010855 (EEG with localized low amplitude activity)\n", + " \n", + " \n", + " Abnormal pupillary function\n", + " definition of HP:0007686 (Abnormal pupillary function)\n", + " \n", + " \n", + " A functional abnormality of the pupil.\n", + " definition of HP:0007686 (Abnormal pupillary function)\n", + " \n", + " \n", + " Oligoclonal T cell expansion\n", + " definition of HP:0031430 (Oligoclonal T cell expansion)\n", + " \n", + " \n", + " The presence of a population of T cells with a restricted T cell receptor (TCR) repertoire derived from a limited number of TCR clones.\n", + " definition of HP:0031430 (Oligoclonal T cell expansion)\n", + " \n", + " \n", + " Chronic decreased circulating IgD\n", + " definition of HP:0033016 (Chronic decreased circulating IgD)\n", + " \n", + " \n", + " A lasting reduction beneath the normal level of total immunoglobulin D (IgD) in the blood.\n", + " definition of HP:0033016 (Chronic decreased circulating IgD)\n", + " \n", + " \n", + " #Chronic decreased IgM in blood\n", + " definition of HP:0033016 (Chronic decreased circulating IgD)\n", + " \n", + " \n", + " Hemoptysis\n", + " definition of HP:0002105 (Hemoptysis)\n", + " \n", + " \n", + " Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs.\n", + " definition of HP:0002105 (Hemoptysis)\n", + " \n", + " \n", + " #Coughing up blood #Haemoptysis\n", + " definition of HP:0002105 (Hemoptysis)\n", + " \n", + " \n", + " Bullet-shaped proximal phalanx of the 2nd finger\n", + " definition of HP:0009582 (Bullet-shaped proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 2nd finger is affected.\n", + " definition of HP:0009582 (Bullet-shaped proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Bullet-shaped innermost bone of index finger\n", + " definition of HP:0009582 (Bullet-shaped proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Reduced hepatic urocanase activity\n", + " definition of HP:0034686 (Reduced hepatic urocanase activity)\n", + " \n", + " \n", + " Activity of urocanase in the liver below the lower limit of normal.\n", + " definition of HP:0034686 (Reduced hepatic urocanase activity)\n", + " \n", + " \n", + " #Liver biopsy: urocanase activity low\n", + " definition of HP:0034686 (Reduced hepatic urocanase activity)\n", + " \n", + " \n", + " Limited pointing\n", + " definition of HP:5200057 (Limited pointing)\n", + " \n", + " \n", + " Absence or reduction in the use of pointing to request or direct another's attention.\n", + " definition of HP:5200057 (Limited pointing)\n", + " \n", + " \n", + " Anti-thyroid peroxidase antibody positivity\n", + " definition of HP:0025379 (Anti-thyroid peroxidase antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid peroxidase.\n", + " definition of HP:0025379 (Anti-thyroid peroxidase antibody positivity)\n", + " \n", + " \n", + " #Anti-TPO antibody positivity #Antimicrosomal antibodies #Antimicrosomal antibody positivity #TPOAbs\n", + " definition of HP:0025379 (Anti-thyroid peroxidase antibody positivity)\n", + " \n", + " \n", + " Thenar muscle weakness\n", + " definition of HP:0003427 (Thenar muscle weakness)\n", + " \n", + " \n", + " Bone cyst\n", + " definition of HP:0012062 (Bone cyst)\n", + " \n", + " \n", + " A fluid filled cavity that develops with a bone.\n", + " definition of HP:0012062 (Bone cyst)\n", + " \n", + " \n", + " #Bone cyst #Bone cysts\n", + " definition of HP:0012062 (Bone cyst)\n", + " \n", + " \n", + " Abnormal saccadic eye movements\n", + " definition of HP:0000570 (Abnormal saccadic eye movements)\n", + " \n", + " \n", + " An abnormality of eye movement characterized by impairment of fast (saccadic) eye movements.\n", + " definition of HP:0000570 (Abnormal saccadic eye movements)\n", + " \n", + " \n", + " #Abnormality of saccadic eye movements\n", + " definition of HP:0000570 (Abnormal saccadic eye movements)\n", + " \n", + " \n", + " Sclerosis of the proximal phalanx of the thumb\n", + " definition of HP:0100913 (Sclerosis of the proximal phalanx of the thumb)\n", + " \n", + " \n", + " An elevation of bone density in the proximal phalanx of the thumb.\n", + " definition of HP:0100913 (Sclerosis of the proximal phalanx of the thumb)\n", + " \n", + " \n", + " #Increased bone density in the innermost bone of the thumb\n", + " definition of HP:0100913 (Sclerosis of the proximal phalanx of the thumb)\n", + " \n", + " \n", + " Hypoplastic left heart\n", + " definition of HP:0004383 (Hypoplastic left heart)\n", + " \n", + " \n", + " Underdevelopment of the left side of the heart. May include atresia of the aortic or mitral orifice and hypoplasia of the ascending aorta.\n", + " definition of HP:0004383 (Hypoplastic left heart)\n", + " \n", + " \n", + " #Heart left ventricle hypoplasia #Left ventricular hypoplasia #Underdeveloped left heart\n", + " definition of HP:0004383 (Hypoplastic left heart)\n", + " \n", + " \n", + " Additional crus of antihelix\n", + " definition of HP:0011235 (Additional crus of antihelix)\n", + " \n", + " \n", + " Supernumerary ridge or crus of the ear arising from the antihelix.\n", + " definition of HP:0011235 (Additional crus of antihelix)\n", + " \n", + " \n", + " Decreased specific antibody response to infection\n", + " definition of HP:0410308 (Decreased specific antibody response to infection)\n", + " \n", + " \n", + " A reduced ability to synthesize antibodies against antigens from an infectious agent or pathogen (such as bacteria, viruses, parasites, etc.), as measured by antibody titer determination following infection.\n", + " definition of HP:0410308 (Decreased specific antibody response to infection)\n", + " \n", + " \n", + " Sclerosis of 3rd finger phalanx\n", + " definition of HP:0100919 (Sclerosis of 3rd finger phalanx)\n", + " \n", + " \n", + " An elevation in bone density in one or more phalanges of the third finger. Sclerosis is normally detected on a radiograph as an area of increased opacity.\n", + " definition of HP:0100919 (Sclerosis of 3rd finger phalanx)\n", + " \n", + " \n", + " #Increased bone density in middle finger bone #Sclerosis of the phalanges of the 3rd finger\n", + " definition of HP:0100919 (Sclerosis of 3rd finger phalanx)\n", + " \n", + " \n", + " Overgrowth of external genitalia\n", + " definition of HP:0003247 (Overgrowth of external genitalia)\n", + " \n", + " \n", + " #Overgrowth of external genitalia\n", + " definition of HP:0003247 (Overgrowth of external genitalia)\n", + " \n", + " \n", + " Retinal neoplasm\n", + " definition of HP:0012777 (Retinal neoplasm)\n", + " \n", + " \n", + " A tumor (abnormal growth of tissue) of the retina.\n", + " definition of HP:0012777 (Retinal neoplasm)\n", + " \n", + " \n", + " Fragmentation of the epiphyses of the proximal phalanges of the hand\n", + " definition of HP:0010272 (Fragmentation of the epiphyses of the proximal phalanges of the hand)\n", + " \n", + " \n", + " #Fragmentation of the end part of the innermost hand bones\n", + " definition of HP:0010272 (Fragmentation of the epiphyses of the proximal phalanges of the hand)\n", + " \n", + " \n", + " Dialeptic seizure\n", + " definition of HP:0011146 (Dialeptic seizure)\n", + " \n", + " \n", + " A dialeptic seizure is a type of seizure characterized predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event.\n", + " definition of HP:0011146 (Dialeptic seizure)\n", + " \n", + " \n", + " #Behavioral arrest seizure with impairment of awareness irrespective of onset #Behavioural arrest seizure with impairment of awareness irrespective of onset #Unknown onset behavioral arrest seizure with impairment of awareness #Unknown onset behavioural arrest seizure with impairment of awareness\n", + " definition of HP:0011146 (Dialeptic seizure)\n", + " \n", + " \n", + " Genital ulcers\n", + " definition of HP:0003249 (Genital ulcers)\n", + " \n", + " \n", + " #Genital ulcers\n", + " definition of HP:0003249 (Genital ulcers)\n", + " \n", + " \n", + " Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells\n", + " definition of HP:0002851 (Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells)\n", + " \n", + " \n", + " An abnormally increased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells.\n", + " definition of HP:0002851 (Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells)\n", + " \n", + " \n", + " #Increased number of CD4-/CD8- T cells expressing alpha/beta T-cell receptors\n", + " definition of HP:0002851 (Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells)\n", + " \n", + " \n", + " Abnormal visual fixation\n", + " definition of HP:0025404 (Abnormal visual fixation)\n", + " \n", + " \n", + " Any anomaly in the process of ocular fixation, which is the maintaining of the visual gaze on a single location.\n", + " definition of HP:0025404 (Abnormal visual fixation)\n", + " \n", + " \n", + " Macrovesicular hepatic steatosis\n", + " definition of HP:0001403 (Macrovesicular hepatic steatosis)\n", + " \n", + " \n", + " A form of hepatic steatosis characterized by the presence of large, lipid-laden vesicles in the affected hepatocytes.\n", + " definition of HP:0001403 (Macrovesicular hepatic steatosis)\n", + " \n", + " \n", + " #Macrovesicular steatosis\n", + " definition of HP:0001403 (Macrovesicular hepatic steatosis)\n", + " \n", + " \n", + " Duplication of the distal phalanx of the 3rd finger\n", + " definition of HP:0009962 (Duplication of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Partial or complete duplication of the distal phalanx of middle finger.\n", + " definition of HP:0009962 (Duplication of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Partial/complete duplication of the distal phalanx of the 3rd finger #Partial/complete duplication of the outermost bone of the middle finger\n", + " definition of HP:0009962 (Duplication of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Subtentorial periventricular white matter hyperdensity\n", + " definition of HP:0025192 (Subtentorial periventricular white matter hyperdensity)\n", + " \n", + " \n", + " Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the fourth cerebral ventricle (which is located beneath the tentorium of the cerebellum).\n", + " definition of HP:0025192 (Subtentorial periventricular white matter hyperdensity)\n", + " \n", + " \n", + " Congenital stationary cone dysfunction\n", + " definition of HP:0030637 (Congenital stationary cone dysfunction)\n", + " \n", + " \n", + " Retinal phenotype characterized by cone photoreceptor dysfunction and preserved rod system. The abnormality is typically stationary or very slowly progressive and findings may include reduced central vision, color vision abnormalities, nystagmus and photophobia.\n", + " definition of HP:0030637 (Congenital stationary cone dysfunction)\n", + " \n", + " \n", + " #Cone dysfunction #Cone dysfunction syndrome\n", + " definition of HP:0030637 (Congenital stationary cone dysfunction)\n", + " \n", + " \n", + " Seesaw nystagmus\n", + " definition of HP:0012044 (Seesaw nystagmus)\n", + " \n", + " \n", + " Seesaw nystagmus is a type of pendular nystagmus where a half cycle consists of the elevation and intorsion of one eye, concurrently with the depression and extortion of the fellow eye. In the other half cycle, there is an inversion of the ocular movements.\n", + " definition of HP:0012044 (Seesaw nystagmus)\n", + " \n", + " \n", + " Tubular luminal dilatation\n", + " definition of HP:0032622 (Tubular luminal dilatation)\n", + " \n", + " \n", + " Dilatation (expansion beyond the normal dimension) of the cavity (lumen) of tubules of the kidney. The tubular cross section displays an attenuated brush border (apical PAS positivity greater than 10 percent of the normal expected height, but unequivocally less than normal expected height), resulting in an apparent increase in the size of lumen.\n", + " definition of HP:0032622 (Tubular luminal dilatation)\n", + " \n", + " \n", + " #Tubular ectasia\n", + " definition of HP:0032622 (Tubular luminal dilatation)\n", + " \n", + " \n", + " Progressive extrapyramidal movement disorder\n", + " definition of HP:0007153 (Progressive extrapyramidal movement disorder)\n", + " \n", + " \n", + " Abnormal erythrocyte sedimentation rate\n", + " definition of HP:0025021 (Abnormal erythrocyte sedimentation rate)\n", + " \n", + " \n", + " A deviation from normal range of the erythrocyte sedimentation rate (ESR), a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling.\n", + " definition of HP:0025021 (Abnormal erythrocyte sedimentation rate)\n", + " \n", + " \n", + " #Abnormal ESR #Abnormal Westergren sedimentation rate\n", + " definition of HP:0025021 (Abnormal erythrocyte sedimentation rate)\n", + " \n", + " \n", + " Sacral meningocele\n", + " definition of HP:0005765 (Sacral meningocele)\n", + " \n", + " \n", + " Sporadic\n", + " definition of HP:0003745 (Sporadic)\n", + " \n", + " \n", + " Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected.\n", + " definition of HP:0003745 (Sporadic)\n", + " \n", + " \n", + " #Isolated cases #No previous family history\n", + " definition of HP:0003745 (Sporadic)\n", + " \n", + " \n", + " Wormian bones\n", + " definition of HP:0002645 (Wormian bones)\n", + " \n", + " \n", + " The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium.\n", + " definition of HP:0002645 (Wormian bones)\n", + " \n", + " \n", + " #Extra bones within cranial sutures #Intra sutural bones #Intrasutural bones #Islands of bone within cranial sutures\n", + " definition of HP:0002645 (Wormian bones)\n", + " \n", + " \n", + " Left-right disorientation\n", + " definition of HP:6000000 (Left-right disorientation)\n", + " \n", + " \n", + " A tendency to mix up left and right in one's own body space, typically elicited by asking a person to perform a two-stage command involving specified lateralized anatomy.\n", + " definition of HP:6000000 (Left-right disorientation)\n", + " \n", + " \n", + " #Left-right confusion #Right-left confusion #Right-left disorientation\n", + " definition of HP:6000000 (Left-right disorientation)\n", + " \n", + " \n", + " Hypermetric saccades\n", + " definition of HP:0007338 (Hypermetric saccades)\n", + " \n", + " \n", + " A saccade that overshoots the target with the dynamic saccade.\n", + " definition of HP:0007338 (Hypermetric saccades)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the nails\n", + " definition of HP:0008386 (Aplasia/Hypoplasia of the nails)\n", + " \n", + " \n", + " Aplasia or developmental hypoplasia of the nail.\n", + " definition of HP:0008386 (Aplasia/Hypoplasia of the nails)\n", + " \n", + " \n", + " #Absent/hypoplastic nails #Absent/small nails #Absent/underdeveloped nails #Nail aplasia/hypoplasia\n", + " definition of HP:0008386 (Aplasia/Hypoplasia of the nails)\n", + " \n", + " \n", + " Hyaline casts\n", + " definition of HP:0031200 (Hyaline casts)\n", + " \n", + " \n", + " A type of acellular urinary cast that are composed only of Tamm-Horsfall glycoprotein, a fact which explains their low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends.\n", + " definition of HP:0031200 (Hyaline casts)\n", + " \n", + " \n", + " Elevated blood mercury concentration\n", + " definition of HP:6000443 (Elevated blood mercury concentration)\n", + " \n", + " \n", + " The concentration of mercury in the blood is above the upper limit of a guidance value for total blood mercury concentrations that implies possible injurious effects.\n", + " definition of HP:6000443 (Elevated blood mercury concentration)\n", + " \n", + " \n", + " Delayed recoil upon stretching of skin\n", + " definition of HP:0025087 (Delayed recoil upon stretching of skin)\n", + " \n", + " \n", + " Area of skin requiring an increased amount of time to return to its original shape after being stretched.\n", + " definition of HP:0025087 (Delayed recoil upon stretching of skin)\n", + " \n", + " \n", + " Dilatation of the tricuspid annulus\n", + " definition of HP:0031444 (Dilatation of the tricuspid annulus)\n", + " \n", + " \n", + " An increase in the diameter of the ring (annulus) of the tricuspid valve.\n", + " definition of HP:0031444 (Dilatation of the tricuspid annulus)\n", + " \n", + " \n", + " Bacterial encephalitis\n", + " definition of HP:0034387 (Bacterial encephalitis)\n", + " \n", + " \n", + " Encephalitis caused by bacterial infection.\n", + " definition of HP:0034387 (Bacterial encephalitis)\n", + " \n", + " \n", + " Anti-rickettsial antibody positivity\n", + " definition of HP:0430080 (Anti-rickettsial antibody positivity)\n", + " \n", + " \n", + " The presence of antibodies in the blood circulation that react against a component of a rickettsial bacterium. Rickettsiae are gram-negative bacteria with an obligate intracellular life cycle circulating between mammalian hosts and hematophagous arthropod vectors\n", + " definition of HP:0430080 (Anti-rickettsial antibody positivity)\n", + " \n", + " \n", + " Anti-measles antibody positivity\n", + " definition of HP:0430088 (Anti-measles antibody positivity)\n", + " \n", + " \n", + " The presence of antibodies in the blood circulation that react against a component of measles virus.\n", + " definition of HP:0430088 (Anti-measles antibody positivity)\n", + " \n", + " \n", + " #Measles antibody titer high in blood\n", + " definition of HP:0430088 (Anti-measles antibody positivity)\n", + " \n", + " \n", + " Insulin receptor antibody positivity\n", + " definition of HP:0031104 (Insulin receptor antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against the insulin receptor.\n", + " definition of HP:0031104 (Insulin receptor antibody positivity)\n", + " \n", + " \n", + " Increased CSF methionine concentration\n", + " definition of HP:0500210 (Increased CSF methionine concentration)\n", + " \n", + " \n", + " Concentration of methionine in the cerebrospinal fluid above the upper limit of normal.\n", + " definition of HP:0500210 (Increased CSF methionine concentration)\n", + " \n", + " \n", + " #High methionine levels in cerebrospinal fluid\n", + " definition of HP:0500210 (Increased CSF methionine concentration)\n", + " \n", + " \n", + " Agenesis of mandibular lateral incisor\n", + " definition of HP:0200154 (Agenesis of mandibular lateral incisor)\n", + " \n", + " \n", + " #Failure of development of mandibular lateral incisor\n", + " definition of HP:0200154 (Agenesis of mandibular lateral incisor)\n", + " \n", + " \n", + " Osteolytic defects of the distal phalanx of the hallux\n", + " definition of HP:0010080 (Osteolytic defects of the distal phalanx of the hallux)\n", + " \n", + " \n", + " Abnormal tarsal ossification\n", + " definition of HP:0008369 (Abnormal tarsal ossification)\n", + " \n", + " \n", + " An abnormality of the formation and mineralization of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.\n", + " definition of HP:0008369 (Abnormal tarsal ossification)\n", + " \n", + " \n", + " #Abnormal ossification of tarsal bones #Hardening of ankle bones\n", + " definition of HP:0008369 (Abnormal tarsal ossification)\n", + " \n", + " \n", + " Splayed epiphyses\n", + " definition of HP:0200003 (Splayed epiphyses)\n", + " \n", + " \n", + " Flaring (widening) of the epiphysis.\n", + " definition of HP:0200003 (Splayed epiphyses)\n", + " \n", + " \n", + " #Splayed end part of bone\n", + " definition of HP:0200003 (Splayed epiphyses)\n", + " \n", + " \n", + " Subependymal giant-cell astrocytoma\n", + " definition of HP:0009718 (Subependymal giant-cell astrocytoma)\n", + " \n", + " \n", + " A demarcated, largely intraventricular tumor in the region of the foramen of Monro composed of spindle to large plump or ganglion-like cells with eosinophilic to amphophilic cytoplasm and somewhat pleomorphic nuclei with occasional prominent nucleoli. These tumors are almost always associated with tuberous sclerosis.\n", + " definition of HP:0009718 (Subependymal giant-cell astrocytoma)\n", + " \n", + " \n", + " Slender toe\n", + " definition of HP:0011308 (Slender toe)\n", + " \n", + " \n", + " Toes that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual.\n", + " definition of HP:0011308 (Slender toe)\n", + " \n", + " \n", + " #Narrow toe #Slender toe\n", + " definition of HP:0011308 (Slender toe)\n", + " \n", + " \n", + " Spastic/hyperactive bladder\n", + " definition of HP:0005340 (Spastic/hyperactive bladder)\n", + " \n", + " \n", + " EEG with focal slow activity\n", + " definition of HP:0010843 (EEG with focal slow activity)\n", + " \n", + " \n", + " Focal (localized) slow activity reflects focal dysfunction, not diffuse dysfunction (i.e., encephalopathy).\n", + " definition of HP:0010843 (EEG with focal slow activity)\n", + " \n", + " \n", + " #EEG: focal slow activity #EEG: localised slow activity #EEG: localized slow activity\n", + " definition of HP:0010843 (EEG with focal slow activity)\n", + " \n", + " \n", + " Flared metaphysis\n", + " definition of HP:0003015 (Flared metaphysis)\n", + " \n", + " \n", + " The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.\n", + " definition of HP:0003015 (Flared metaphysis)\n", + " \n", + " \n", + " #Flared wide portion of long bone #Flared, widened metaphyses #marked metaphyseal flaring of long bones #Metaphyseal flaring #Metaphyseal flaring of long bones #Metaphyseal splaying #Metaphyses flared #Splayed metaphyses\n", + " definition of HP:0003015 (Flared metaphysis)\n", + " \n", + " \n", + " EEG with photoparoxysmal response grade III\n", + " definition of HP:0011213 (EEG with photoparoxysmal response grade III)\n", + " \n", + " \n", + " Occurrence of epileptiform discharges in occipital, central, temporal and parietal regions during photic stimulation.\n", + " definition of HP:0011213 (EEG with photoparoxysmal response grade III)\n", + " \n", + " \n", + " Absent metacarpal epiphyses\n", + " definition of HP:0009196 (Absent metacarpal epiphyses)\n", + " \n", + " \n", + " Absence of the epiphyses of the metacarpal bones, which are normally located at the distal ends of the metacarpals.\n", + " definition of HP:0009196 (Absent metacarpal epiphyses)\n", + " \n", + " \n", + " #Absent end part of the long bone of hand #Absent metacarpal ossification center #Absent metacarpal ossification centre\n", + " definition of HP:0009196 (Absent metacarpal epiphyses)\n", + " \n", + " \n", + " Invasive dermatophyte infection\n", + " definition of HP:0032516 (Invasive dermatophyte infection)\n", + " \n", + " \n", + " Infection that extends deeply into the dermis by dermatophytes, fungi that typically cause different types of superficial infection (tinea) or skin, hair, or nails.\n", + " definition of HP:0032516 (Invasive dermatophyte infection)\n", + " \n", + " \n", + " Disproportionate short stature\n", + " definition of HP:0003498 (Disproportionate short stature)\n", + " \n", + " \n", + " A kind of short stature in which different regions of the body are shortened to differing extents.\n", + " definition of HP:0003498 (Disproportionate short stature)\n", + " \n", + " \n", + " #Short stature, disproportionate\n", + " definition of HP:0003498 (Disproportionate short stature)\n", + " \n", + " \n", + " Increased circulating interferon-gamma concentration\n", + " definition of HP:0030356 (Increased circulating interferon-gamma concentration)\n", + " \n", + " \n", + " An elevation in the concentration of interferon gamma measured in the blood circulation.\n", + " definition of HP:0030356 (Increased circulating interferon-gamma concentration)\n", + " \n", + " \n", + " #Increased serum interferon-gamma level\n", + " definition of HP:0030356 (Increased circulating interferon-gamma concentration)\n", + " \n", + " \n", + " Elevated circulating S-adenosyl methionine concentration\n", + " definition of HP:0034617 (Elevated circulating S-adenosyl methionine concentration)\n", + " \n", + " \n", + " Concentration of S-adenosyl methionine (SAM) in the blood circulation above the upper limit of normal. SAM is a cosubstrate involved in methyl group transfers, transsulfuration, and aminopropylation.\n", + " definition of HP:0034617 (Elevated circulating S-adenosyl methionine concentration)\n", + " \n", + " \n", + " #S-adenosylmethionine high in blood\n", + " definition of HP:0034617 (Elevated circulating S-adenosyl methionine concentration)\n", + " \n", + " \n", + " Hemiballismus\n", + " definition of HP:0100248 (Hemiballismus)\n", + " \n", + " \n", + " Hemiballismus is a rare movement disorder that is caused primarily by damage to various areas in the basal ganglia. Hemiballismus is usually characterized by involuntary flinging motions of the extremities. The movements are often violent and have wide amplitudes of motion. They are continuous and random and can involve proximal and/or distal muscles on one side of the body, while some cases even include the facial muscles. The more a patient is active, the more the movements increase. With relaxation comes a decrease in movements.\n", + " definition of HP:0100248 (Hemiballismus)\n", + " \n", + " \n", + " Global proximal tubulopathy\n", + " definition of HP:0012573 (Global proximal tubulopathy)\n", + " \n", + " \n", + " A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption with bicarbonate loss and resulting acidosis.\n", + " definition of HP:0012573 (Global proximal tubulopathy)\n", + " \n", + " \n", + " Apnea\n", + " definition of HP:0002104 (Apnea)\n", + " \n", + " \n", + " Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.\n", + " definition of HP:0002104 (Apnea)\n", + " \n", + " \n", + " #Absence of spontaneous respiration #Apneic episodes #Apnoea\n", + " definition of HP:0002104 (Apnea)\n", + " \n", + " \n", + " Skewed maternal X inactivation\n", + " definition of HP:0012546 (Skewed maternal X inactivation)\n", + " \n", + " \n", + " A deviation from equal (50%) inactivation of each parental X chromosome in maternal cells.\n", + " definition of HP:0012546 (Skewed maternal X inactivation)\n", + " \n", + " \n", + " Megaduodenum\n", + " definition of HP:0030996 (Megaduodenum)\n", + " \n", + " \n", + " Dilation and elongation of the duodenum with hypertrophy of all layers of the duodenum.\n", + " definition of HP:0030996 (Megaduodenum)\n", + " \n", + " \n", + " Hamartoma of the eye\n", + " definition of HP:0010568 (Hamartoma of the eye)\n", + " \n", + " \n", + " A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the eye.\n", + " definition of HP:0010568 (Hamartoma of the eye)\n", + " \n", + " \n", + " Increased glucose-6-phosphate dehydrogenase level in tissue\n", + " definition of HP:0410186 (Increased glucose-6-phosphate dehydrogenase level in tissue)\n", + " \n", + " \n", + " An increase in the level of glucose-6-phosphate dehydrogenase in tissue.\n", + " definition of HP:0410186 (Increased glucose-6-phosphate dehydrogenase level in tissue)\n", + " \n", + " \n", + " #Increased G6PD level in tissue\n", + " definition of HP:0410186 (Increased glucose-6-phosphate dehydrogenase level in tissue)\n", + " \n", + " \n", + " Ameliorated by steroid medication\n", + " definition of HP:0034825 (Ameliorated by steroid medication)\n", + " \n", + " \n", + " Applies to a sign or symptom that is improved or made more bearable by treatment with a steroid medication such as prednisone.\n", + " definition of HP:0034825 (Ameliorated by steroid medication)\n", + " \n", + " \n", + " Bracket epiphysis of the middle phalanx of the 4th toe\n", + " definition of HP:0100181 (Bracket epiphysis of the middle phalanx of the 4th toe)\n", + " \n", + " \n", + " #Bracket shaped end part of the middle bone of the 4th toe\n", + " definition of HP:0100181 (Bracket epiphysis of the middle phalanx of the 4th toe)\n", + " \n", + " \n", + " Focal T2 hypointense brainstem lesion\n", + " definition of HP:0012749 (Focal T2 hypointense brainstem lesion)\n", + " \n", + " \n", + " A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hypointensity affecting a particular region of the brainstem.\n", + " definition of HP:0012749 (Focal T2 hypointense brainstem lesion)\n", + " \n", + " \n", + " Leptomeningeal enhancement\n", + " definition of HP:0032070 (Leptomeningeal enhancement)\n", + " \n", + " \n", + " Contrast material enhancement of the pia mater or enhancement that extends into the subarachnoid spaces of the sulci and cisterns is leptomeningeal enhancement. Leptomeningeal enhancement is usually associated with meningitis, which may be bacterial, viral, or fungal. The primary mechanism of this enhancement is breakdown of the blood-brain barrier without angiogenesis.\n", + " definition of HP:0032070 (Leptomeningeal enhancement)\n", + " \n", + " \n", + " Congenital posterior urethral valve\n", + " definition of HP:0010957 (Congenital posterior urethral valve)\n", + " \n", + " \n", + " A developmental defect resulting in an obstructing membrane in the posterior male urethra.\n", + " definition of HP:0010957 (Congenital posterior urethral valve)\n", + " \n", + " \n", + " #Posterior urethral valve\n", + " definition of HP:0010957 (Congenital posterior urethral valve)\n", + " \n", + " \n", + " Discolored lateral incisors\n", + " definition of HP:0006290 (Discolored lateral incisors)\n", + " \n", + " \n", + " The presence of discolored lateral incisors.\n", + " definition of HP:0006290 (Discolored lateral incisors)\n", + " \n", + " \n", + " #Discoloured lateral incisors\n", + " definition of HP:0006290 (Discolored lateral incisors)\n", + " \n", + " \n", + " Opisthotonus\n", + " definition of HP:0002179 (Opisthotonus)\n", + " \n", + " \n", + " #Opisthotonos\n", + " definition of HP:0002179 (Opisthotonus)\n", + " \n", + " \n", + " Thumb hypoplasia grade 4\n", + " definition of HP:6000942 (Thumb hypoplasia grade 4)\n", + " \n", + " \n", + " A type of developmental undergrowth of the thumb characterized by attachment to the hand only by the skin and digital neurovascular structures.\n", + " definition of HP:6000942 (Thumb hypoplasia grade 4)\n", + " \n", + " \n", + " #Floating thumb #Hypoplasia of the thumb grade IV\n", + " definition of HP:6000942 (Thumb hypoplasia grade 4)\n", + " \n", + " \n", + " Brain parenchymal tuberculoma\n", + " definition of HP:6000585 (Brain parenchymal tuberculoma)\n", + " \n", + " \n", + " Tuberculoma results from hematogenous spread of Mycobacterium tuberculosis (M. tb) from an extracranial source. Diagnosis is based on computed tomography (CT) scan and magnetic resonance imaging (MRI) studies with a similar ring-enhancing lesion.\n", + " definition of HP:6000585 (Brain parenchymal tuberculoma)\n", + " \n", + " \n", + " Carpal bone hypoplasia\n", + " definition of HP:0001498 (Carpal bone hypoplasia)\n", + " \n", + " \n", + " Underdevelopment of one or more carpal bones.\n", + " definition of HP:0001498 (Carpal bone hypoplasia)\n", + " \n", + " \n", + " #Hypoplasia of carpal bones #Hypoplastic carpal bones #Small carpal bones #Small carpals\n", + " definition of HP:0001498 (Carpal bone hypoplasia)\n", + " \n", + " \n", + " Uniparental disomy\n", + " definition of HP:0032382 (Uniparental disomy)\n", + " \n", + " \n", + " Inheritance of both homologues of a chromosome pair from the same parent.\n", + " definition of HP:0032382 (Uniparental disomy)\n", + " \n", + " \n", + " #UPD\n", + " definition of HP:0032382 (Uniparental disomy)\n", + " \n", + " \n", + " Anti-CARP VIII antibody\n", + " definition of HP:5000004 (Anti-CARP VIII antibody)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Carbonic anhydrase-related protein VIII (CARPVIII).\n", + " definition of HP:5000004 (Anti-CARP VIII antibody)\n", + " \n", + " \n", + " #Anti CARPVIII antibody #Anti-carbonic anhydrase-related protein VIII antibody\n", + " definition of HP:5000004 (Anti-CARP VIII antibody)\n", + " \n", + " \n", + " Grandiosity\n", + " definition of HP:5200270 (Grandiosity)\n", + " \n", + " \n", + " Persistently exaggerated feelings and thoughts of an inflated sense of self-importance, superiority, uniqueness, or invulnerability. The affected individual may project arrogance with a dismissive behavioral pattern towards others the individual deems inferior.\n", + " definition of HP:5200270 (Grandiosity)\n", + " \n", + " \n", + " High-output congestive heart failure\n", + " definition of HP:0001722 (High-output congestive heart failure)\n", + " \n", + " \n", + " A form of heart failure characterized by elevated cardiac output. This may be seen in patients with heart failure and hyperthyroidism, anemia, pregnancy, arteriovenous fistulae, and others.\n", + " definition of HP:0001722 (High-output congestive heart failure)\n", + " \n", + " \n", + " Forearm reduction defects\n", + " definition of HP:0006368 (Forearm reduction defects)\n", + " \n", + " \n", + " Reduced renal corticomedullary differentiation\n", + " definition of HP:0005565 (Reduced renal corticomedullary differentiation)\n", + " \n", + " \n", + " Reduced differentiation between renal cortex and medulla on diagnostic imaging.\n", + " definition of HP:0005565 (Reduced renal corticomedullary differentiation)\n", + " \n", + " \n", + " #Loss of definition of corticomedullary differentiation\n", + " definition of HP:0005565 (Reduced renal corticomedullary differentiation)\n", + " \n", + " \n", + " Polyalveolar lobe\n", + " definition of HP:0033241 (Polyalveolar lobe)\n", + " \n", + " \n", + " An elevation of the total count of alveoli as determined by microscopic point-counting of randomly taken lung sections, not secondary to abnormalities in number, size and structure of the airways. In polyaveolar lobe, the number of alveoli is generally increased three to fivefold.\n", + " definition of HP:0033241 (Polyalveolar lobe)\n", + " \n", + " \n", + " Hawkinsinuria\n", + " definition of HP:0034457 (Hawkinsinuria)\n", + " \n", + " \n", + " The concentration of hawkinsin in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:0034457 (Hawkinsinuria)\n", + " \n", + " \n", + " #Hawkinsin high in urine\n", + " definition of HP:0034457 (Hawkinsinuria)\n", + " \n", + " \n", + " Macrothrombocytopenia\n", + " definition of HP:0040185 (Macrothrombocytopenia)\n", + " \n", + " \n", + " #Macrothrombozytopenia\n", + " definition of HP:0040185 (Macrothrombocytopenia)\n", + " \n", + " \n", + " Increased arm span\n", + " definition of HP:0012771 (Increased arm span)\n", + " \n", + " \n", + " Increased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle).\n", + " definition of HP:0012771 (Increased arm span)\n", + " \n", + " \n", + " #Increased arm span\n", + " definition of HP:0012771 (Increased arm span)\n", + " \n", + " \n", + " Disproportionate shortening of the tibia\n", + " definition of HP:0005766 (Disproportionate shortening of the tibia)\n", + " \n", + " \n", + " #Disproportionate shortening of the shankbone #Disproportionate shortening of the shinbone #Marked shortening of tibia\n", + " definition of HP:0005766 (Disproportionate shortening of the tibia)\n", + " \n", + " \n", + " Congenital absence of gluteal muscles\n", + " definition of HP:0009013 (Congenital absence of gluteal muscles)\n", + " \n", + " \n", + " Echogenic fetal colon\n", + " definition of HP:6000916 (Echogenic fetal colon)\n", + " \n", + " \n", + " A type of echogenic fetal bowel in which the hyperechogenicity is strictly limited to the colon.\n", + " definition of HP:6000916 (Echogenic fetal colon)\n", + " \n", + " \n", + " Deep cerebral white matter hyperintensities\n", + " definition of HP:0030892 (Deep cerebral white matter hyperintensities)\n", + " \n", + " \n", + " Areas of brighter than expected signal on magnetic resonance imaging emanating from locations distant from the ventricular system.\n", + " definition of HP:0030892 (Deep cerebral white matter hyperintensities)\n", + " \n", + " \n", + " #DWMH\n", + " definition of HP:0030892 (Deep cerebral white matter hyperintensities)\n", + " \n", + " \n", + " Curved middle phalanx of the 3rd finger\n", + " definition of HP:0009432 (Curved middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " Curved appearance of the middle phalanx of the 3rd (middle) finger.\n", + " definition of HP:0009432 (Curved middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Curved middle bone of the middle finger\n", + " definition of HP:0009432 (Curved middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " Lytic defects of ulnar metaphysis\n", + " definition of HP:0004043 (Lytic defects of ulnar metaphysis)\n", + " \n", + " \n", + " Occipital cortex localization\n", + " definition of HP:0430132 (Occipital cortex localization)\n", + " \n", + " \n", + " Localization to or predominance in the occipital cortex of the brain.\n", + " definition of HP:0430132 (Occipital cortex localization)\n", + " \n", + " \n", + " Autonomic erectile dysfunction\n", + " definition of HP:0008652 (Autonomic erectile dysfunction)\n", + " \n", + " \n", + " Impotence (inability to develop or maintain an erection) resulting from abnormal functioning of the autonomic nervous system.\n", + " definition of HP:0008652 (Autonomic erectile dysfunction)\n", + " \n", + " \n", + " #Impotence due to autonomic dysfunction\n", + " definition of HP:0008652 (Autonomic erectile dysfunction)\n", + " \n", + " \n", + " Osteoporotic metatarsal\n", + " definition of HP:0004699 (Osteoporotic metatarsal)\n", + " \n", + " \n", + " Decrease in mass and density of the metatarsal bones.\n", + " definition of HP:0004699 (Osteoporotic metatarsal)\n", + " \n", + " \n", + " Long hallux\n", + " definition of HP:0001847 (Long hallux)\n", + " \n", + " \n", + " Increased length of the big toe.\n", + " definition of HP:0001847 (Long hallux)\n", + " \n", + " \n", + " #Increased length of the hallux #Large halluces #Long big toe #Long halluces\n", + " definition of HP:0001847 (Long hallux)\n", + " \n", + " \n", + " Small intestinal intraepithelial lymphocytosis\n", + " definition of HP:6000251 (Small intestinal intraepithelial lymphocytosis)\n", + " \n", + " \n", + " The count of lymphocytes located in the epithelial layer of the mucosa of the small intestine is above the upper limit of normal.\n", + " definition of HP:6000251 (Small intestinal intraepithelial lymphocytosis)\n", + " \n", + " \n", + " Elevated gamma-glutamyltransferase level\n", + " definition of HP:0030948 (Elevated gamma-glutamyltransferase level)\n", + " \n", + " \n", + " Increased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues.\n", + " definition of HP:0030948 (Elevated gamma-glutamyltransferase level)\n", + " \n", + " \n", + " #Elevated serum GGT\n", + " definition of HP:0030948 (Elevated gamma-glutamyltransferase level)\n", + " \n", + " \n", + " Y-shaped metacarpals\n", + " definition of HP:0006042 (Y-shaped metacarpals)\n", + " \n", + " \n", + " Y-shaped metacarpals are the result of a partial fusion of two metacarpal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metacarpals may be seen in combination with polydactyly.\n", + " definition of HP:0006042 (Y-shaped metacarpals)\n", + " \n", + " \n", + " #Y-shaped long bone of hand\n", + " definition of HP:0006042 (Y-shaped metacarpals)\n", + " \n", + " \n", + " Erysipelas\n", + " definition of HP:0001055 (Erysipelas)\n", + " \n", + " \n", + " Increased susceptibility to erysipelas, as manifested by a medical history of repeated episodes of erysipelas, which is a superficial infection of the skin, typically involving the lymphatic system.\n", + " definition of HP:0001055 (Erysipelas)\n", + " \n", + " \n", + " Cerebral venous thrombosis\n", + " definition of HP:0005305 (Cerebral venous thrombosis)\n", + " \n", + " \n", + " Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow.\n", + " definition of HP:0005305 (Cerebral venous thrombosis)\n", + " \n", + " \n", + " #Blood clot in cerebral vein #Cerebral thrombosis #Cerebral vein thrombosis\n", + " definition of HP:0005305 (Cerebral venous thrombosis)\n", + " \n", + " \n", + " Right ventricular cardiomyopathy\n", + " definition of HP:0011663 (Right ventricular cardiomyopathy)\n", + " \n", + " \n", + " Right ventricular dysfunction (global or regional) with functional and morphological right ventricular abnormalities, with or without left ventricular disease.\n", + " definition of HP:0011663 (Right ventricular cardiomyopathy)\n", + " \n", + " \n", + " #Cardiomyopathy, right ventricular\n", + " definition of HP:0011663 (Right ventricular cardiomyopathy)\n", + " \n", + " \n", + " Elevated circulating 1-pyrroline-5-carboxylic acid concentration\n", + " definition of HP:6000694 (Elevated circulating 1-pyrroline-5-carboxylic acid concentration)\n", + " \n", + " \n", + " The concentration of delta-1-pyrroline-5-carboxylate in the blood circulation is above the upper limit of normal.\n", + " definition of HP:6000694 (Elevated circulating 1-pyrroline-5-carboxylic acid concentration)\n", + " \n", + " \n", + " #Elevated circulating delta-1-pyrroline-5-carboxylate concentration\n", + " definition of HP:6000694 (Elevated circulating 1-pyrroline-5-carboxylic acid concentration)\n", + " \n", + " \n", + " Hemosiderinuria\n", + " definition of HP:0012543 (Hemosiderinuria)\n", + " \n", + " \n", + " The presence of hemosiderin in the urine.\n", + " definition of HP:0012543 (Hemosiderinuria)\n", + " \n", + " \n", + " Body ache\n", + " definition of HP:0033047 (Body ache)\n", + " \n", + " \n", + " Body ache is a complaint that is often used to denote vague symptoms of mild fatigue, lethargy, or dull aches. We will define it here to mean a dull and poorly localizable pain that is described by the affected individual to affect multiple joints or body parts or even the entire body.\n", + " definition of HP:0033047 (Body ache)\n", + " \n", + " \n", + " Focal bilateral motor seizure\n", + " definition of HP:0032715 (Focal bilateral motor seizure)\n", + " \n", + " \n", + " A type of focal motor seizure (it commences in one hemisphere) involving bilateral muscle groups rapidly at seizure onset.\n", + " definition of HP:0032715 (Focal bilateral motor seizure)\n", + " \n", + " \n", + " Complete duplication of the middle phalanx of the 2nd toe\n", + " definition of HP:0010426 (Complete duplication of the middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " Complete duplication of middle phalanx of second toe.\n", + " definition of HP:0010426 (Complete duplication of the middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Complete duplication of the middle bone of the 2nd toe\n", + " definition of HP:0010426 (Complete duplication of the middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " Visual agnosia\n", + " definition of HP:0030222 (Visual agnosia)\n", + " \n", + " \n", + " The condition is known as visual agnosia, which refers to the inability to recognize objects that are visually presented, even though the individual may have normal visual field, acuity, color vision, brightness discrimination, language, and memory.\n", + " definition of HP:0030222 (Visual agnosia)\n", + " \n", + " \n", + " Klazomania\n", + " definition of HP:0430111 (Klazomania)\n", + " \n", + " \n", + " Involuntary attacks of compulsive paroxysmal shouting. The shouting behaviors may be extremely loud and not related to the ongoing mental state of the affected individual. Shouting episodes may occur in bouts and last for several hours.\n", + " definition of HP:0430111 (Klazomania)\n", + " \n", + " \n", + " Type V atherosclerotic lesion\n", + " definition of HP:0031682 (Type V atherosclerotic lesion)\n", + " \n", + " \n", + " Type V lesions are defined as lesions in which prominent new fibrous connective tissue has formed. When the new tissue is part of a lesion with a lipid core (type IV), this type of morphology may be referred to as fibroatheroma or type Va lesion. A type V lesion in which the lipid core and other parts of the lesion are calcified may be referred to as type Vb. A type V lesion in which a lipid core is absent and lipid in general is minimal may be referred to as type Vc. With these lesions, arteries are variously narrowed, generally more than with type IV. Importantly, as with type IV lesions, type V lesions may develop fissures, hematoma, and/or thrombus (type VI lesion), and for this reason too they are clinically relevant.\n", + " definition of HP:0031682 (Type V atherosclerotic lesion)\n", + " \n", + " \n", + " Increased Z-disc width\n", + " definition of HP:0033008 (Increased Z-disc width)\n", + " \n", + " \n", + " Abnormally increased width of the Z-disk of the sarcomere, resulting from splitting or opening of the Z-disc (c.f., Figure 2 of PMID:28732005).\n", + " definition of HP:0033008 (Increased Z-disc width)\n", + " \n", + " \n", + " #Increased Z-disk width #Widened z-discs\n", + " definition of HP:0033008 (Increased Z-disc width)\n", + " \n", + " \n", + " Renal neoplasm\n", + " definition of HP:0009726 (Renal neoplasm)\n", + " \n", + " \n", + " The presence of a neoplasm of the kidney.\n", + " definition of HP:0009726 (Renal neoplasm)\n", + " \n", + " \n", + " #Neoplasia of the kidneys #Renal tumors #Renal tumours\n", + " definition of HP:0009726 (Renal neoplasm)\n", + " \n", + " \n", + " Geographic atrophy\n", + " definition of HP:0031609 (Geographic atrophy)\n", + " \n", + " \n", + " Sharply demarcated area of partial or complete depigmentation of the fundus reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. The margins of the de-pigmented area are usually scalloped and the large choroidal vessels are visible through the atrophic retinal pigment epithelium.\n", + " definition of HP:0031609 (Geographic atrophy)\n", + " \n", + " \n", + " Duplication of the sella turcica\n", + " definition of HP:0040304 (Duplication of the sella turcica)\n", + " \n", + " \n", + " #Duplicate sella turcica #Duplicated sella turcica\n", + " definition of HP:0040304 (Duplication of the sella turcica)\n", + " \n", + " \n", + " Non-midline cleft palate\n", + " definition of HP:0100338 (Non-midline cleft palate)\n", + " \n", + " \n", + " #Paramedian cleft palate\n", + " definition of HP:0100338 (Non-midline cleft palate)\n", + " \n", + " \n", + " Cortical radial artery leukocyte hypercellularity\n", + " definition of HP:0033955 (Cortical radial artery leukocyte hypercellularity)\n", + " \n", + " \n", + " A type of cortical radial artery endoarterial hypercellularity due to increased numbers of white blood cells (leukocytes).\n", + " definition of HP:0033955 (Cortical radial artery leukocyte hypercellularity)\n", + " \n", + " \n", + " #Endoarterial hypercellularity within interlobular artery consisting of leukocytes\n", + " definition of HP:0033955 (Cortical radial artery leukocyte hypercellularity)\n", + " \n", + " \n", + " 2-hydroxyadipic aciduria\n", + " definition of HP:0034465 (2-hydroxyadipic aciduria)\n", + " \n", + " \n", + " The concentration of 2-hydroxyadipic acid in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:0034465 (2-hydroxyadipic aciduria)\n", + " \n", + " \n", + " #2-hydroxyadipic acid high in urine\n", + " definition of HP:0034465 (2-hydroxyadipic aciduria)\n", + " \n", + " \n", + " Peripheral nerve compression\n", + " definition of HP:0003406 (Peripheral nerve compression)\n", + " \n", + " \n", + " Fragmentation of the epiphyses of the middle phalanges of the hand\n", + " definition of HP:0010261 (Fragmentation of the epiphyses of the middle phalanges of the hand)\n", + " \n", + " \n", + " Fragmented appearance of the epiphyses of the middle phalanges of the hand.\n", + " definition of HP:0010261 (Fragmentation of the epiphyses of the middle phalanges of the hand)\n", + " \n", + " \n", + " #Fragmentation of the end part of the middle hand bones\n", + " definition of HP:0010261 (Fragmentation of the epiphyses of the middle phalanges of the hand)\n", + " \n", + " \n", + " Increased level of propylene glycol in blood\n", + " definition of HP:0410069 (Increased level of propylene glycol in blood)\n", + " \n", + " \n", + " An increase in the level of propylene glycol in the blood.\n", + " definition of HP:0410069 (Increased level of propylene glycol in blood)\n", + " \n", + " \n", + " #Increased level of propane-1,2-diol in blood\n", + " definition of HP:0410069 (Increased level of propylene glycol in blood)\n", + " \n", + " \n", + " Hypervalinemia\n", + " definition of HP:0010910 (Hypervalinemia)\n", + " \n", + " \n", + " An increased concentration of valine in the blood.\n", + " definition of HP:0010910 (Hypervalinemia)\n", + " \n", + " \n", + " #High blood valine concentration\n", + " definition of HP:0010910 (Hypervalinemia)\n", + " \n", + " \n", + " Localized osteoporosis\n", + " definition of HP:0040161 (Localized osteoporosis)\n", + " \n", + " \n", + " #Localised osteoporosis\n", + " definition of HP:0040161 (Localized osteoporosis)\n", + " \n", + " \n", + " Humeral cortical thinning\n", + " definition of HP:0003869 (Humeral cortical thinning)\n", + " \n", + " \n", + " Large clumps of pigment irregularly distributed along hair shaft\n", + " definition of HP:0004527 (Large clumps of pigment irregularly distributed along hair shaft)\n", + " \n", + " \n", + " #Large clumps of pigment irregularly distributed along hair shaft\n", + " definition of HP:0004527 (Large clumps of pigment irregularly distributed along hair shaft)\n", + " \n", + " \n", + " Pain characteristic\n", + " definition of HP:0025280 (Pain characteristic)\n", + " \n", + " \n", + " A pain characteristic is defined as a subjective category or type of pain.\n", + " definition of HP:0025280 (Pain characteristic)\n", + " \n", + " \n", + " Hypoplasia of the maxilla\n", + " definition of HP:0000327 (Hypoplasia of the maxilla)\n", + " \n", + " \n", + " Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.\n", + " definition of HP:0000327 (Hypoplasia of the maxilla)\n", + " \n", + " \n", + " #Decreased size of maxilla #Decreased size of upper jaw #Hypoplasia of upper jaw bones #Hypoplastic maxillary bones #Maxillary deficiency #Maxillary hypoplasia #Maxillary micrognathia #Maxillary retrognathia #Maxillary retrusion #Micromaxilla #Small maxilla #Small upper jaw #Small upper jaw bones #Upper jaw deficiency #Upper jaw retrusion\n", + " definition of HP:0000327 (Hypoplasia of the maxilla)\n", + " \n", + " \n", + " Duplication of the proximal phalanx of the hallux\n", + " definition of HP:0010093 (Duplication of the proximal phalanx of the hallux)\n", + " \n", + " \n", + " Partial or complete duplication of the proximal phalanx of big toe.\n", + " definition of HP:0010093 (Duplication of the proximal phalanx of the hallux)\n", + " \n", + " \n", + " #Duplication of the innermost bone of big toe\n", + " definition of HP:0010093 (Duplication of the proximal phalanx of the hallux)\n", + " \n", + " \n", + " Anti-GM4 antibody positivity\n", + " definition of HP:0034134 (Anti-GM4 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM4.\n", + " definition of HP:0034134 (Anti-GM4 antibody positivity)\n", + " \n", + " \n", + " Abnormal adiponectin level\n", + " definition of HP:0030684 (Abnormal adiponectin level)\n", + " \n", + " \n", + " A deviation from the normal circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue, and that plays a crucial role in the regulation of insulin sensitivity and glucose metabolism.\n", + " definition of HP:0030684 (Abnormal adiponectin level)\n", + " \n", + " \n", + " Increased blood folate concentration\n", + " definition of HP:0032164 (Increased blood folate concentration)\n", + " \n", + " \n", + " An elevated circulating concentration of folic acid, which is also known as vitamin B9.\n", + " definition of HP:0032164 (Increased blood folate concentration)\n", + " \n", + " \n", + " Metaphyseal chondrodysplasia\n", + " definition of HP:0005871 (Metaphyseal chondrodysplasia)\n", + " \n", + " \n", + " An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae.\n", + " definition of HP:0005871 (Metaphyseal chondrodysplasia)\n", + " \n", + " \n", + " Increased urinary renal tubular epithelial cell count\n", + " definition of HP:0032213 (Increased urinary renal tubular epithelial cell count)\n", + " \n", + " \n", + " An increased number of renal tubular epithelial cells per high-power field in urinanalysis.\n", + " definition of HP:0032213 (Increased urinary renal tubular epithelial cell count)\n", + " \n", + " \n", + " Axillary and groin hyperpigmentation and hypopigmentation\n", + " definition of HP:0007471 (Axillary and groin hyperpigmentation and hypopigmentation)\n", + " \n", + " \n", + " Abnormal right ventricular function\n", + " definition of HP:0033118 (Abnormal right ventricular function)\n", + " \n", + " \n", + " Anomalous physiology (function) of the right ventricle.\n", + " definition of HP:0033118 (Abnormal right ventricular function)\n", + " \n", + " \n", + " Contiguous gene syndrome\n", + " definition of HP:0001466 (Contiguous gene syndrome)\n", + " \n", + " \n", + " A syndrome caused by the effects of abnormality (typically a deletion or duplication) of 2 or more adjacent genes\n", + " definition of HP:0001466 (Contiguous gene syndrome)\n", + " \n", + " \n", + " Interphalangeal thumb joint contracture\n", + " definition of HP:0009626 (Interphalangeal thumb joint contracture)\n", + " \n", + " \n", + " Chronic loss of joint motion of the interphalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio interphalangealis pollicis.\n", + " definition of HP:0009626 (Interphalangeal thumb joint contracture)\n", + " \n", + " \n", + " #Contracture of the interphalangeal joint of the thumb #Interphalangeal extension contractures of thumbs\n", + " definition of HP:0009626 (Interphalangeal thumb joint contracture)\n", + " \n", + " \n", + " Median cleft palate\n", + " definition of HP:0009099 (Median cleft palate)\n", + " \n", + " \n", + " Cleft palate of the midline of the palate.\n", + " definition of HP:0009099 (Median cleft palate)\n", + " \n", + " \n", + " #Central cleft palate #Midline cleft palate\n", + " definition of HP:0009099 (Median cleft palate)\n", + " \n", + " \n", + " Exocrine pancreatic insufficiency\n", + " definition of HP:0001738 (Exocrine pancreatic insufficiency)\n", + " \n", + " \n", + " Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes.\n", + " definition of HP:0001738 (Exocrine pancreatic insufficiency)\n", + " \n", + " \n", + " #Inability to properly digest food due to lack of pancreatic digestive enzymes\n", + " definition of HP:0001738 (Exocrine pancreatic insufficiency)\n", + " \n", + " \n", + " Sleep-related eating disorder\n", + " definition of HP:5200288 (Sleep-related eating disorder)\n", + " \n", + " \n", + " Eating while asleep can be problematic, as it may involve potentially harmful behaviors like overeating or consuming raw meat.\n", + " definition of HP:5200288 (Sleep-related eating disorder)\n", + " \n", + " \n", + " #Consuming food while asleep #Nocturnal sleep-related eating disorder (NS-RED) #Sleep eating #SRED\n", + " definition of HP:5200288 (Sleep-related eating disorder)\n", + " \n", + " \n", + " Mesenteric cyst\n", + " definition of HP:0030451 (Mesenteric cyst)\n", + " \n", + " \n", + " A closed fluid filled sac originating from the mesentary.\n", + " definition of HP:0030451 (Mesenteric cyst)\n", + " \n", + " \n", + " 11 thoracic vertebrae\n", + " definition of HP:0030306 (11 thoracic vertebrae)\n", + " \n", + " \n", + " The presence of 11 instead of the normal 12 thoracic vertebrae.\n", + " definition of HP:0030306 (11 thoracic vertebrae)\n", + " \n", + " \n", + " Myotonia with warm-up phenomenon\n", + " definition of HP:0003740 (Myotonia with warm-up phenomenon)\n", + " \n", + " \n", + " Myotonia that occurs after a period of rest and decreases with continuing exercise.\n", + " definition of HP:0003740 (Myotonia with warm-up phenomenon)\n", + " \n", + " \n", + " Abnormal muscle physiology\n", + " definition of HP:0011804 (Abnormal muscle physiology)\n", + " \n", + " \n", + " A functional abnormality of a skeletal muscle.\n", + " definition of HP:0011804 (Abnormal muscle physiology)\n", + " \n", + " \n", + " #Abnormality of muscle physiology #Issue with muscle function\n", + " definition of HP:0011804 (Abnormal muscle physiology)\n", + " \n", + " \n", + " Altman type I sacrococcygeal teratoma\n", + " definition of HP:0030737 (Altman type I sacrococcygeal teratoma)\n", + " \n", + " \n", + " A type of sacrococcygeal teratoma that is predominantly external and projects from the sacrococcygeal region and presents with distortion of the buttocks.\n", + " definition of HP:0030737 (Altman type I sacrococcygeal teratoma)\n", + " \n", + " \n", + " EEG with generalized slow activity grade 1\n", + " definition of HP:0011206 (EEG with generalized slow activity grade 1)\n", + " \n", + " \n", + " Slowing at frequencies between 7.5 and 8.5 Hz.\n", + " definition of HP:0011206 (EEG with generalized slow activity grade 1)\n", + " \n", + " \n", + " #EEG with generalised slow activity grade 1\n", + " definition of HP:0011206 (EEG with generalized slow activity grade 1)\n", + " \n", + " \n", + " Paraphilia\n", + " definition of HP:0025787 (Paraphilia)\n", + " \n", + " \n", + " Intense and typically recurring sexual arousal to atypical objects, fantasies, places, or individuals that frequently, but not always, lead to engagement of non-conventional sexual acts. This is a broad class of desires and behaviors that may include innocuous fetish behavior to illegal behaviors involving non-consenting individuals.\n", + " definition of HP:0025787 (Paraphilia)\n", + " \n", + " \n", + " #Paraphilias\n", + " definition of HP:0025787 (Paraphilia)\n", + " \n", + " \n", + " Pulmonary arterial medial hypertrophy\n", + " definition of HP:0004964 (Pulmonary arterial medial hypertrophy)\n", + " \n", + " \n", + " Increase in mass of the tunica media of the arteries in the pulmonary circulation.\n", + " definition of HP:0004964 (Pulmonary arterial medial hypertrophy)\n", + " \n", + " \n", + " #Hypertrophy of the pulmonary artery wall\n", + " definition of HP:0004964 (Pulmonary arterial medial hypertrophy)\n", + " \n", + " \n", + " Intermediate uveitis\n", + " definition of HP:0012124 (Intermediate uveitis)\n", + " \n", + " \n", + " Inflammation of the uveal tract in which the primary site of inflammation is the vitreous.\n", + " definition of HP:0012124 (Intermediate uveitis)\n", + " \n", + " \n", + " Abnormality of the humeroradial joint\n", + " definition of HP:0100744 (Abnormality of the humeroradial joint)\n", + " \n", + " \n", + " Diminished neutrophil myeloperoxidase activity\n", + " definition of HP:6000513 (Diminished neutrophil myeloperoxidase activity)\n", + " \n", + " \n", + " Activity of the enzyme myeloperoxidase (EC 1.11.1.7) in neutrophils below the lower limit of normal. This feature can be measured by peroxidase cytochemistry or biochemical assays. Myeloperoxidase is a lysosomal hemoprotein located in the azurophilic granules of polymorphonuclear leukocytes and monocytes.\n", + " definition of HP:6000513 (Diminished neutrophil myeloperoxidase activity)\n", + " \n", + " \n", + " Triggered by febrile illness\n", + " definition of HP:0025215 (Triggered by febrile illness)\n", + " \n", + " \n", + " Applies to a sign or symptom that is provoked or brought about by febrile illness.\n", + " definition of HP:0025215 (Triggered by febrile illness)\n", + " \n", + " \n", + " #Febrile illness triggered symptoms #Triggered by fever\n", + " definition of HP:0025215 (Triggered by febrile illness)\n", + " \n", + " \n", + " Superior oblique muscle restriction\n", + " definition of HP:0025593 (Superior oblique muscle restriction)\n", + " \n", + " \n", + " Mechanical limitation of the range of movement of the superior oblique muscle.\n", + " definition of HP:0025593 (Superior oblique muscle restriction)\n", + " \n", + " \n", + " Perinephric abscess\n", + " definition of HP:0032619 (Perinephric abscess)\n", + " \n", + " \n", + " A perinephric abscess is a collection of suppurative material in the perinephric space (i.e., the connective and adipose tissues surrounding the kidney).\n", + " definition of HP:0032619 (Perinephric abscess)\n", + " \n", + " \n", + " Exacerbated by contraceptive medication exposure\n", + " definition of HP:0032501 (Exacerbated by contraceptive medication exposure)\n", + " \n", + " \n", + " Applied to a sign or symptom that is worsened by taking contraceptive medication.\n", + " definition of HP:0032501 (Exacerbated by contraceptive medication exposure)\n", + " \n", + " \n", + " #Contraceptive pills aggravate symptoms\n", + " definition of HP:0032501 (Exacerbated by contraceptive medication exposure)\n", + " \n", + " \n", + " Cervical cord compression\n", + " definition of HP:0002341 (Cervical cord compression)\n", + " \n", + " \n", + " Compression of the spinal cord in the cervical region, generally manifested by paresthesias and numbness, weakness, difficulty walking, abnormalities of coordination, and neck pain or stiffness.\n", + " definition of HP:0002341 (Cervical cord compression)\n", + " \n", + " \n", + " #Cervical cord compression myelopathy\n", + " definition of HP:0002341 (Cervical cord compression)\n", + " \n", + " \n", + " Simple febrile seizure\n", + " definition of HP:0011171 (Simple febrile seizure)\n", + " \n", + " \n", + " A short generalized seizure, of a duration of <15 min, not recurring within 24 h, occurring during a febrile episode not caused by an acute disease of the nervous system intracranial infection or severe metabolic disturbance.\n", + " definition of HP:0011171 (Simple febrile seizure)\n", + " \n", + " \n", + " #Simple febrile convulsion #Simple febrile seizures #Simple fever fit\n", + " definition of HP:0011171 (Simple febrile seizure)\n", + " \n", + " \n", + " Adrenal hyperplasia\n", + " definition of HP:0008221 (Adrenal hyperplasia)\n", + " \n", + " \n", + " Enlargement of the adrenal gland.\n", + " definition of HP:0008221 (Adrenal hyperplasia)\n", + " \n", + " \n", + " #Enlarged adrenal glands\n", + " definition of HP:0008221 (Adrenal hyperplasia)\n", + " \n", + " \n", + " Ulnar deviation of the wrist\n", + " definition of HP:0003049 (Ulnar deviation of the wrist)\n", + " \n", + " \n", + " #Ulnar deviation of wrists\n", + " definition of HP:0003049 (Ulnar deviation of the wrist)\n", + " \n", + " \n", + " Spheroid bodies\n", + " definition of HP:0034509 (Spheroid bodies)\n", + " \n", + " \n", + " An accumulation of myofilamentous material within individual muscle fibers, forming usually round but occasionally elongated bodies ranging from 2 to 15 pm in size. The so-called spheroid bodies stain green with the modified trichrome preparation and are mainly present in the periphery of type 1 muscle fibers, where they may occupy large sectors sharply demarcated from the remainder of the cross-sectioned muscle fiber.\n", + " definition of HP:0034509 (Spheroid bodies)\n", + " \n", + " \n", + " Iron accumulation in brain\n", + " definition of HP:0012675 (Iron accumulation in brain)\n", + " \n", + " \n", + " An abnormal build up of iron (Fe) in brain tissue.\n", + " definition of HP:0012675 (Iron accumulation in brain)\n", + " \n", + " \n", + " #Brain iron deposition #Iron accumulation in brain\n", + " definition of HP:0012675 (Iron accumulation in brain)\n", + " \n", + " \n", + " Persistent stapedial artery\n", + " definition of HP:0011475 (Persistent stapedial artery)\n", + " \n", + " \n", + " Persistence of the stapedial artery, which normally regresses during embryonic life.\n", + " definition of HP:0011475 (Persistent stapedial artery)\n", + " \n", + " \n", + " Myoglobinuria\n", + " definition of HP:0002913 (Myoglobinuria)\n", + " \n", + " \n", + " Presence of myoglobin in the urine.\n", + " definition of HP:0002913 (Myoglobinuria)\n", + " \n", + " \n", + " Ataxia\n", + " definition of HP:0001251 (Ataxia)\n", + " \n", + " \n", + " Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).\n", + " definition of HP:0001251 (Ataxia)\n", + " \n", + " \n", + " #Cerebellar ataxia\n", + " definition of HP:0001251 (Ataxia)\n", + " \n", + " \n", + " Paroxysmal bursts of laughter\n", + " definition of HP:0000749 (Paroxysmal bursts of laughter)\n", + " \n", + " \n", + " #Paroxysmal laughter\n", + " definition of HP:0000749 (Paroxysmal bursts of laughter)\n", + " \n", + " \n", + " Advanced pneumatization of cranial sinuses\n", + " definition of HP:0010540 (Advanced pneumatization of cranial sinuses)\n", + " \n", + " \n", + " A degree of pneumatization that is increased compared to age-related norms.\n", + " definition of HP:0010540 (Advanced pneumatization of cranial sinuses)\n", + " \n", + " \n", + " Meat allergen allergy\n", + " definition of HP:0410330 (Meat allergen allergy)\n", + " \n", + " \n", + " Hypersensitivity in form of an adverse immune reaction against allergens contained in meat products.\n", + " definition of HP:0410330 (Meat allergen allergy)\n", + " \n", + " \n", + " #Allergy to meat allergens #IgE-mediated meat allergen allergy #Immunoglobulin E-mediated meat allergen allergy #Meat allergen allergy #Meat allergy\n", + " definition of HP:0410330 (Meat allergen allergy)\n", + " \n", + " \n", + " Cortical myoclonus\n", + " definition of HP:0040148 (Cortical myoclonus)\n", + " \n", + " \n", + " Cortical myoclonus mainly affects the distal upper limbs and face, which reflects the largest cortical representations of these body areas. It is often focal, but may be multifocal, bilateral or generalized, as a consequence of intracortical and transcallosal spreading of abnormal activity. It typically occurs on voluntary action and may affect speech and gait. Cortical myoclonic jerks are stimulus sensitive, typically to touch, but sensitivity to visual stimuli is also described. Most patients with cortical myoclonus have both positive myoclonus and NM, occurring either independently or together as a complex of the two kinds of myoclonus. If cortical myoclonus is prolonged and lasts for hours, days or weeks, it is called epilepsia partials continua and is considered to be a rare form of focal epileptic status. Focal cortical myoclonus almost always points to an underlining lesion of the sensori-motor cortex, which produces hyperexcitability (e.g. vascular, inflammatory or neoplastic).\n", + " definition of HP:0040148 (Cortical myoclonus)\n", + " \n", + " \n", + " Abnormal ear physiology\n", + " definition of HP:0031704 (Abnormal ear physiology)\n", + " \n", + " \n", + " Any functional anomaly of the ear.\n", + " definition of HP:0031704 (Abnormal ear physiology)\n", + " \n", + " \n", + " Splayed fingers\n", + " definition of HP:0030029 (Splayed fingers)\n", + " \n", + " \n", + " Divergence of digits along the A/P axis (in the plane of the palm).\n", + " definition of HP:0030029 (Splayed fingers)\n", + " \n", + " \n", + " #Splayed fingers #Spreading of the fingers\n", + " definition of HP:0030029 (Splayed fingers)\n", + " \n", + " \n", + " Ectopic ossification in muscle tissue\n", + " definition of HP:0011987 (Ectopic ossification in muscle tissue)\n", + " \n", + " \n", + " Formation of abnormal bony tissue within muscle tissue.\n", + " definition of HP:0011987 (Ectopic ossification in muscle tissue)\n", + " \n", + " \n", + " #Calcification of muscle tissue\n", + " definition of HP:0011987 (Ectopic ossification in muscle tissue)\n", + " \n", + " \n", + " Neonatal onset\n", + " definition of HP:0003623 (Neonatal onset)\n", + " \n", + " \n", + " Onset of signs or symptoms of disease within the first 28 days of life.\n", + " definition of HP:0003623 (Neonatal onset)\n", + " \n", + " \n", + " #Neonatal onset #Onset in first weeks of life #Onset in neonatal period\n", + " definition of HP:0003623 (Neonatal onset)\n", + " \n", + " \n", + " Abulia\n", + " definition of HP:0012671 (Abulia)\n", + " \n", + " \n", + " Abulia is characterized by difficulty in initiating and sustaining spontaneous movements; the person often appears frozen but will move hesitantly on request. There are frequently substantial reductions in emotional responsiveness, spontaneous speech, and social interaction. The individual appears to be content to remain still and inactive with minimal movement, but moves or reacts hesitantly in response to interactions.\n", + " definition of HP:0012671 (Abulia)\n", + " \n", + " \n", + " #Aboulia\n", + " definition of HP:0012671 (Abulia)\n", + " \n", + " \n", + " Multiple lineage myelodysplasia\n", + " definition of HP:0012148 (Multiple lineage myelodysplasia)\n", + " \n", + " \n", + " Myelodysplasia with dysplastic changes in two or more of the myeloid lineages: erythroid, granulocytic, megakaryocytic.\n", + " definition of HP:0012148 (Multiple lineage myelodysplasia)\n", + " \n", + " \n", + " Periungual teleangiectasia\n", + " definition of HP:0025555 (Periungual teleangiectasia)\n", + " \n", + " \n", + " Telangiectasia (small dilated blood vessels) located near to the fingernails or toenails.\n", + " definition of HP:0025555 (Periungual teleangiectasia)\n", + " \n", + " \n", + " Reduced liver 2,4-dienoyl-CoA reductase activity\n", + " definition of HP:0034919 (Reduced liver 2,4-dienoyl-CoA reductase activity)\n", + " \n", + " \n", + " Diminished activity of the enzyme 2,4-dienoyl-CoA reductase in liver tissue.\n", + " definition of HP:0034919 (Reduced liver 2,4-dienoyl-CoA reductase activity)\n", + " \n", + " \n", + " Hyperextensible hand joints\n", + " definition of HP:0005639 (Hyperextensible hand joints)\n", + " \n", + " \n", + " The ability of the joints of the hand to move beyond their normal range of motion.\n", + " definition of HP:0005639 (Hyperextensible hand joints)\n", + " \n", + " \n", + " Retinal detachment\n", + " definition of HP:0000541 (Retinal detachment)\n", + " \n", + " \n", + " Separation of the inner layers of the retina (neural retina) from the pigment epithelium.\n", + " definition of HP:0000541 (Retinal detachment)\n", + " \n", + " \n", + " #Detached retina #Retinal detachment\n", + " definition of HP:0000541 (Retinal detachment)\n", + " \n", + " \n", + " Asymmetric short stature\n", + " definition of HP:0008929 (Asymmetric short stature)\n", + " \n", + " \n", + " Cervix cancer\n", + " definition of HP:0030079 (Cervix cancer)\n", + " \n", + " \n", + " A tumor of the uterine cervix.\n", + " definition of HP:0030079 (Cervix cancer)\n", + " \n", + " \n", + " Focal aware emotional seizure with agitation\n", + " definition of HP:0032744 (Focal aware emotional seizure with agitation)\n", + " \n", + " \n", + " Focal emotional seizure with agitation in which awareness is retained throughout.\n", + " definition of HP:0032744 (Focal aware emotional seizure with agitation)\n", + " \n", + " \n", + " Cone-shaped epiphyses of the 5th finger\n", + " definition of HP:0009384 (Cone-shaped epiphyses of the 5th finger)\n", + " \n", + " \n", + " A cone-shaped appearance of the epiphyses of the 5th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.\n", + " definition of HP:0009384 (Cone-shaped epiphyses of the 5th finger)\n", + " \n", + " \n", + " #Cone-shaped end part of the little finger bones #Cone-shaped end part of the pinkie finger bones #Cone-shaped end part of the pinky finger bones\n", + " definition of HP:0009384 (Cone-shaped epiphyses of the 5th finger)\n", + " \n", + " \n", + " Abnormal homeostasis\n", + " definition of HP:0012337 (Abnormal homeostasis)\n", + " \n", + " \n", + " An anomaly in the processes involved in the maintenance of an internal equilibrium.\n", + " definition of HP:0012337 (Abnormal homeostasis)\n", + " \n", + " \n", + " Projectile vomiting\n", + " definition of HP:0002587 (Projectile vomiting)\n", + " \n", + " \n", + " Vomiting that ejects the gastric contents with great force.\n", + " definition of HP:0002587 (Projectile vomiting)\n", + " \n", + " \n", + " #Projectile vomiting\n", + " definition of HP:0002587 (Projectile vomiting)\n", + " \n", + " \n", + " Bent sperm neck\n", + " definition of HP:0034959 (Bent sperm neck)\n", + " \n", + " \n", + " Sharply angled insertion of the neck and midpiece into the head of a spermatozoon. This term applies if the proportion of spermatozoa with this feature is above the upper limit of normal.\n", + " definition of HP:0034959 (Bent sperm neck)\n", + " \n", + " \n", + " Iris atrophy\n", + " definition of HP:0001089 (Iris atrophy)\n", + " \n", + " \n", + " Loss of iris tissue (atrophy)\n", + " definition of HP:0001089 (Iris atrophy)\n", + " \n", + " \n", + " #Iris degeneration\n", + " definition of HP:0001089 (Iris atrophy)\n", + " \n", + " \n", + " Anti-neurofascin-155 antibody positivity\n", + " definition of HP:0034135 (Anti-neurofascin-155 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NF155.\n", + " definition of HP:0034135 (Anti-neurofascin-155 antibody positivity)\n", + " \n", + " \n", + " #Anti-NF155 antibody positivity\n", + " definition of HP:0034135 (Anti-neurofascin-155 antibody positivity)\n", + " \n", + " \n", + " Abnormal hemidiaphragm morphology\n", + " definition of HP:0040045 (Abnormal hemidiaphragm morphology)\n", + " \n", + " \n", + " #Abnormality of the hemidiaphragms\n", + " definition of HP:0040045 (Abnormal hemidiaphragm morphology)\n", + " \n", + " \n", + " Elevated circulating growth hormone concentration\n", + " definition of HP:0000845 (Elevated circulating growth hormone concentration)\n", + " \n", + " \n", + " Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness.\n", + " definition of HP:0000845 (Elevated circulating growth hormone concentration)\n", + " \n", + " \n", + " #Elevated circulating somatotropin concentration #Growth hormone excess #Somatotropin excess\n", + " definition of HP:0000845 (Elevated circulating growth hormone concentration)\n", + " \n", + " \n", + " Hypopigmented skin patches\n", + " definition of HP:0001053 (Hypopigmented skin patches)\n", + " \n", + " \n", + " #Patchy loss of skin color #Patchy loss of skin colour\n", + " definition of HP:0001053 (Hypopigmented skin patches)\n", + " \n", + " \n", + " Maternal vascular malperfusion\n", + " definition of HP:0025719 (Maternal vascular malperfusion)\n", + " \n", + " \n", + " Gross findings of maternal vascular malperfusion include placental hypoplasia, placental infarction, and retroplacental hemorrhage. If information is available, it is preferable to annotate using the HPO terms that corresponding to the specific abnormalities.\n", + " definition of HP:0025719 (Maternal vascular malperfusion)\n", + " \n", + " \n", + " Cavitating leukodystrophy\n", + " definition of HP:0033369 (Cavitating leukodystrophy)\n", + " \n", + " \n", + " A type of leukodystrophy characterized by multiple small cavitations typically in the periventricular and deep cerebral white matter. The cavitations are visible as a central cavity with cerebrospinal fluid-like signal intensity.\n", + " definition of HP:0033369 (Cavitating leukodystrophy)\n", + " \n", + " \n", + " Bilateral generalized polymicrogyria\n", + " definition of HP:0032410 (Bilateral generalized polymicrogyria)\n", + " \n", + " \n", + " Symmetric generalized polymicrogyria with no obvious gradient or region of maximal severity; may have abnormal high signal in white matter.\n", + " definition of HP:0032410 (Bilateral generalized polymicrogyria)\n", + " \n", + " \n", + " #Bilateral generalised polymicrogyria #Diffuse polymicrogyria\n", + " definition of HP:0032410 (Bilateral generalized polymicrogyria)\n", + " \n", + " \n", + " Posterior vertebral hypoplasia\n", + " definition of HP:0008451 (Posterior vertebral hypoplasia)\n", + " \n", + " \n", + " Aplasia of the left hemidiaphragm\n", + " definition of HP:0009112 (Aplasia of the left hemidiaphragm)\n", + " \n", + " \n", + " Congenital absence of the left half of the diaphragm.\n", + " definition of HP:0009112 (Aplasia of the left hemidiaphragm)\n", + " \n", + " \n", + " #Absent left hemidiaphragm #Left diaphragmatic hernia\n", + " definition of HP:0009112 (Aplasia of the left hemidiaphragm)\n", + " \n", + " \n", + " Glomerular proteinuria\n", + " definition of HP:4000058 (Glomerular proteinuria)\n", + " \n", + " \n", + " A type of proteinuria characterized by increased permeability of the glomerular capillary wall to macromolecules (particularly albumin), whereby protein excretion can reach 20 g/24 h and consists mainly of albumin.\n", + " definition of HP:4000058 (Glomerular proteinuria)\n", + " \n", + " \n", + " Cutaneous angiolipomas\n", + " definition of HP:0006773 (Cutaneous angiolipomas)\n", + " \n", + " \n", + " Aplasia of the proximal phalanges of the hand\n", + " definition of HP:0010242 (Aplasia of the proximal phalanges of the hand)\n", + " \n", + " \n", + " #Absent innermost bones #Absent proximal phalanges\n", + " definition of HP:0010242 (Aplasia of the proximal phalanges of the hand)\n", + " \n", + " \n", + " EEG with generalized polyspikes\n", + " definition of HP:0012001 (EEG with generalized polyspikes)\n", + " \n", + " \n", + " EEG with repetitive generalized sharp transient waves of a duration less than 80 msec.\n", + " definition of HP:0012001 (EEG with generalized polyspikes)\n", + " \n", + " \n", + " #EEG with generalised polyspikes\n", + " definition of HP:0012001 (EEG with generalized polyspikes)\n", + " \n", + " \n", + " Increased urine proteinogenic amino acid derivative level\n", + " definition of HP:0033097 (Increased urine proteinogenic amino acid derivative level)\n", + " \n", + " \n", + " An elevated urine level of a compound that is derived from an amino acid.\n", + " definition of HP:0033097 (Increased urine proteinogenic amino acid derivative level)\n", + " \n", + " \n", + " Vaginal hernia\n", + " definition of HP:0100672 (Vaginal hernia)\n", + " \n", + " \n", + " The presence of a hernia of the vagina.\n", + " definition of HP:0100672 (Vaginal hernia)\n", + " \n", + " \n", + " Bronchoconstriction\n", + " definition of HP:4000007 (Bronchoconstriction)\n", + " \n", + " \n", + " Tightening of smooth muscle surrounding the bronchi and bronchioles with consequent wheezing and shortness of breath.\n", + " definition of HP:4000007 (Bronchoconstriction)\n", + " \n", + " \n", + " #Bronchial constriction #Bronchospasm #Constriction of the bronchi\n", + " definition of HP:4000007 (Bronchoconstriction)\n", + " \n", + " \n", + " Asternia\n", + " definition of HP:0010308 (Asternia)\n", + " \n", + " \n", + " The congenital absence of the sternum.\n", + " definition of HP:0010308 (Asternia)\n", + " \n", + " \n", + " #Aplasia of the sternum #Breast bone aplasia\n", + " definition of HP:0010308 (Asternia)\n", + " \n", + " \n", + " Sexsomnia\n", + " definition of HP:5200294 (Sexsomnia)\n", + " \n", + " \n", + " Unintentional sexual behavior during sleep, such as masturbation, initiation of sex, or making sexual noises, is known as sexsomnia. Sexsomnia predominantly occurs during NREM sleep.\n", + " definition of HP:5200294 (Sexsomnia)\n", + " \n", + " \n", + " #Sexual behavior during sleep #Sexual behaviour during sleep\n", + " definition of HP:5200294 (Sexsomnia)\n", + " \n", + " \n", + " Fullness of paranasal tissue\n", + " definition of HP:0012812 (Fullness of paranasal tissue)\n", + " \n", + " \n", + " Increased bulk of tissue alongside the nose. The fullness can be caused by both bony and soft tissues.\n", + " definition of HP:0012812 (Fullness of paranasal tissue)\n", + " \n", + " \n", + " #Fullness of tissue around the nose #Laterally built up nose #Paranasal fullness #Thick paranasal tissue #Thick tissue around the nose\n", + " definition of HP:0012812 (Fullness of paranasal tissue)\n", + " \n", + " \n", + " Fascicular left ventricular tachycardia\n", + " definition of HP:0031675 (Fascicular left ventricular tachycardia)\n", + " \n", + " \n", + " A ventricular tachycardia (VT) characterized by right bundle branch block (RBBB) and left axis deviation (LAD) on electrocardiogram (ECG).\n", + " definition of HP:0031675 (Fascicular left ventricular tachycardia)\n", + " \n", + " \n", + " Elevated urinary 7-biopterin level\n", + " definition of HP:0033594 (Elevated urinary 7-biopterin level)\n", + " \n", + " \n", + " An abnormally increased amount of 7-biopterin in the urine.\n", + " definition of HP:0033594 (Elevated urinary 7-biopterin level)\n", + " \n", + " \n", + " #Primapterinuria\n", + " definition of HP:0033594 (Elevated urinary 7-biopterin level)\n", + " \n", + " \n", + " Spurs of radial diaphysis\n", + " definition of HP:0004028 (Spurs of radial diaphysis)\n", + " \n", + " \n", + " Elevated urinary dolichol level\n", + " definition of HP:6000125 (Elevated urinary dolichol level)\n", + " \n", + " \n", + " The amount of dolichol in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000125 (Elevated urinary dolichol level)\n", + " \n", + " \n", + " #Dolichol levels high in urine\n", + " definition of HP:6000125 (Elevated urinary dolichol level)\n", + " \n", + " \n", + " Erythroderma\n", + " definition of HP:0001019 (Erythroderma)\n", + " \n", + " \n", + " An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever.\n", + " definition of HP:0001019 (Erythroderma)\n", + " \n", + " \n", + " #Exfoliative dermititis #Generalised erythroderma #Generalised erythrodermia #Generalized erythroderma #Generalized erythrodermia\n", + " definition of HP:0001019 (Erythroderma)\n", + " \n", + " \n", + " Focal impaired awareness cognitive seizure with hallucination\n", + " definition of HP:0032885 (Focal impaired awareness cognitive seizure with hallucination)\n", + " \n", + " \n", + " A focal cognitive seizure with hallucination characterized by impairment of awareness at some point during the seizure.\n", + " definition of HP:0032885 (Focal impaired awareness cognitive seizure with hallucination)\n", + " \n", + " \n", + " Diurnal\n", + " definition of HP:0025302 (Diurnal)\n", + " \n", + " \n", + " Applies to a sign, symptom, or other abnormality that occurs in or is exacerbated in the day time.\n", + " definition of HP:0025302 (Diurnal)\n", + " \n", + " \n", + " Peromelia\n", + " definition of HP:0009828 (Peromelia)\n", + " \n", + " \n", + " The distal parts of the limbs are missing leading to a stump formation.\n", + " definition of HP:0009828 (Peromelia)\n", + " \n", + " \n", + " Congenital foot contractures\n", + " definition of HP:0005745 (Congenital foot contractures)\n", + " \n", + " \n", + " Folate deficiency in CSF\n", + " definition of HP:0410209 (Folate deficiency in CSF)\n", + " \n", + " \n", + " A reduced concentration of folic acid, which is also known as vitamin B9 in the cerebrospinal fluid.\n", + " definition of HP:0410209 (Folate deficiency in CSF)\n", + " \n", + " \n", + " #Folate deficiency in cerebrospinal fluid\n", + " definition of HP:0410209 (Folate deficiency in CSF)\n", + " \n", + " \n", + " Elevated circulating long chain fatty acid concentration\n", + " definition of HP:0003455 (Elevated circulating long chain fatty acid concentration)\n", + " \n", + " \n", + " Increased concentration of long-chain fatty acids in the blood circulation.\n", + " definition of HP:0003455 (Elevated circulating long chain fatty acid concentration)\n", + " \n", + " \n", + " #Elevated long chain fatty acids #Elevated serum long-chain fatty acids #Increased serum long-chain fatty acids\n", + " definition of HP:0003455 (Elevated circulating long chain fatty acid concentration)\n", + " \n", + " \n", + " Anti-mGluR1 antibody\n", + " definition of HP:5000024 (Anti-mGluR1 antibody)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against metabotropic glutamate receptor 1 (mGluR1).\n", + " definition of HP:5000024 (Anti-mGluR1 antibody)\n", + " \n", + " \n", + " #Anti-metabotropic glutamate receptor 1 antibody\n", + " definition of HP:5000024 (Anti-mGluR1 antibody)\n", + " \n", + " \n", + " Abnormal jugular venous pressure\n", + " definition of HP:0030847 (Abnormal jugular venous pressure)\n", + " \n", + " \n", + " An anomaly of the jugular venous pressure. The internal jugular veins, being continuous with the superior vena cava, provide a visible measure of the degree to which the systemic venous reservoir is filled. The vertical height above the right atrium to which they are distended and above which they are in a collapsed state provides an imperfect reflection of the right atrial pressure.\n", + " definition of HP:0030847 (Abnormal jugular venous pressure)\n", + " \n", + " \n", + " Elevated brain lactate level by MRS\n", + " definition of HP:0012707 (Elevated brain lactate level by MRS)\n", + " \n", + " \n", + " An increase in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS).\n", + " definition of HP:0012707 (Elevated brain lactate level by MRS)\n", + " \n", + " \n", + " Focal impaired awareness sensory seizure with visual features\n", + " definition of HP:0032806 (Focal impaired awareness sensory seizure with visual features)\n", + " \n", + " \n", + " A focal sensory seizure with visual features in which awareness is partially or fully impaired at some point during the seizure.\n", + " definition of HP:0032806 (Focal impaired awareness sensory seizure with visual features)\n", + " \n", + " \n", + " Intratubular hyaline casts\n", + " definition of HP:0032633 (Intratubular hyaline casts)\n", + " \n", + " \n", + " A type of acellular urinary cast located within the distal tubules of the kidney and that is composed only of Tamm-Horsfall glycoprotein. Correspondingly, these casts have a low refractive index. Hyaline casts may display a spectrum of morphologies, which includes fluffy, compact, convoluted or wrinkled casts. Hyaline casts have a smooth texture and usually have parallel sides with clear margins and blunted ends.\n", + " definition of HP:0032633 (Intratubular hyaline casts)\n", + " \n", + " \n", + " #Intratubular Tamm-Horsfall (uromodulin) casts\n", + " definition of HP:0032633 (Intratubular hyaline casts)\n", + " \n", + " \n", + " Spinal instability\n", + " definition of HP:0005881 (Spinal instability)\n", + " \n", + " \n", + " Positive fecal parasite test\n", + " definition of HP:0034865 (Positive fecal parasite test)\n", + " \n", + " \n", + " Demonstration of parasite in stool specimen, e.g., Parasites present on wet mount of stool.e\n", + " definition of HP:0034865 (Positive fecal parasite test)\n", + " \n", + " \n", + " #Positive stool parasite test\n", + " definition of HP:0034865 (Positive fecal parasite test)\n", + " \n", + " \n", + " Absent epiphyses of the 5th finger\n", + " definition of HP:0009382 (Absent epiphyses of the 5th finger)\n", + " \n", + " \n", + " Absence of one or more epiphyses of the 5th finger.\n", + " definition of HP:0009382 (Absent epiphyses of the 5th finger)\n", + " \n", + " \n", + " #Absent end part of little finger bone #Absent end part of pinkie finger bone #Absent end part of pinky finger bone\n", + " definition of HP:0009382 (Absent epiphyses of the 5th finger)\n", + " \n", + " \n", + " Acute myelomonocytic leukemia\n", + " definition of HP:0004820 (Acute myelomonocytic leukemia)\n", + " \n", + " \n", + " An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors.\n", + " definition of HP:0004820 (Acute myelomonocytic leukemia)\n", + " \n", + " \n", + " #Acute myelomonocytic leukaemia\n", + " definition of HP:0004820 (Acute myelomonocytic leukemia)\n", + " \n", + " \n", + " Abnormal internal carotid artery morphology\n", + " definition of HP:3000062 (Abnormal internal carotid artery morphology)\n", + " \n", + " \n", + " An abnormality of an internal carotid artery.\n", + " definition of HP:3000062 (Abnormal internal carotid artery morphology)\n", + " \n", + " \n", + " #Abnormality of internal carotid artery\n", + " definition of HP:3000062 (Abnormal internal carotid artery morphology)\n", + " \n", + " \n", + " Tibial deviation of toes\n", + " definition of HP:0100499 (Tibial deviation of toes)\n", + " \n", + " \n", + " #Medial deviation of toes\n", + " definition of HP:0100499 (Tibial deviation of toes)\n", + " \n", + " \n", + " Renal artery aneurysm\n", + " definition of HP:0033261 (Renal artery aneurysm)\n", + " \n", + " \n", + " Increase in diameter of a segment of the renal artery that can be defined as a focal, isolated dilatation of all three layers of the arterial wall over 1.5 times the diameter of the disease-free proximal adjacent arterial segment.\n", + " definition of HP:0033261 (Renal artery aneurysm)\n", + " \n", + " \n", + " Triggered by food ingestion\n", + " definition of HP:0033793 (Triggered by food ingestion)\n", + " \n", + " \n", + " Applies to a sign or symptom that is provoked or brought about by eating a certain food.\n", + " definition of HP:0033793 (Triggered by food ingestion)\n", + " \n", + " \n", + " Sinus bradycardia\n", + " definition of HP:0001688 (Sinus bradycardia)\n", + " \n", + " \n", + " Bradycardia related to a mean resting sinus rate of less than 50 beats per minute.\n", + " definition of HP:0001688 (Sinus bradycardia)\n", + " \n", + " \n", + " Abnormal distribution of retinal arterioles and venules\n", + " definition of HP:0007815 (Abnormal distribution of retinal arterioles and venules)\n", + " \n", + " \n", + " Bullet-shaped distal phalanx of the 3rd finger\n", + " definition of HP:0009423 (Bullet-shaped distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 3rd finger is affected.\n", + " definition of HP:0009423 (Bullet-shaped distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Bullet-shaped outermost bone of the middle finger\n", + " definition of HP:0009423 (Bullet-shaped distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Criss-cross atrioventricular valves\n", + " definition of HP:0011541 (Criss-cross atrioventricular valves)\n", + " \n", + " \n", + " Crossing of the inflow streams of the two ventricles, due to an apparent twisting of the heart about its long axis.\n", + " definition of HP:0011541 (Criss-cross atrioventricular valves)\n", + " \n", + " \n", + " Thin metatarsal cortices\n", + " definition of HP:0008078 (Thin metatarsal cortices)\n", + " \n", + " \n", + " Finger dactylitis\n", + " definition of HP:0031090 (Finger dactylitis)\n", + " \n", + " \n", + " Fingers appear swollen and plump owing to inflammation of the complete finger.\n", + " definition of HP:0031090 (Finger dactylitis)\n", + " \n", + " \n", + " #Sausage fingers\n", + " definition of HP:0031090 (Finger dactylitis)\n", + " \n", + " \n", + " Decreased cervical spine flexion due to contractures of posterior cervical muscles\n", + " definition of HP:0004631 (Decreased cervical spine flexion due to contractures of posterior cervical muscles)\n", + " \n", + " \n", + " #Contracture of post-cervical muscles\n", + " definition of HP:0004631 (Decreased cervical spine flexion due to contractures of posterior cervical muscles)\n", + " \n", + " \n", + " Irregular myelin loops\n", + " definition of HP:0007208 (Irregular myelin loops)\n", + " \n", + " \n", + " Presence of irregular redundant loops of focally folded myelin in a peripheral nerve.\n", + " definition of HP:0007208 (Irregular myelin loops)\n", + " \n", + " \n", + " Episodic pain\n", + " definition of HP:0032148 (Episodic pain)\n", + " \n", + " \n", + " Intermittent pain, i.e., pain that occurs occasionally and at irregular intervals.\n", + " definition of HP:0032148 (Episodic pain)\n", + " \n", + " \n", + " Non-convulsive status epilepticus with coma\n", + " definition of HP:0032659 (Non-convulsive status epilepticus with coma)\n", + " \n", + " \n", + " A type of status epilepticus without prominent motor symptoms and in the presence of coma.\n", + " definition of HP:0032659 (Non-convulsive status epilepticus with coma)\n", + " \n", + " \n", + " #Subtle status epilepticus\n", + " definition of HP:0032659 (Non-convulsive status epilepticus with coma)\n", + " \n", + " \n", + " Polyarticular chondrocalcinosis\n", + " definition of HP:0005017 (Polyarticular chondrocalcinosis)\n", + " \n", + " \n", + " Non-medullary thyroid carcinoma\n", + " definition of HP:0040198 (Non-medullary thyroid carcinoma)\n", + " \n", + " \n", + " #Nonmedullary thyroid carcinoma #Thyroid cancer, nonmedullary\n", + " definition of HP:0040198 (Non-medullary thyroid carcinoma)\n", + " \n", + " \n", + " Cubitus varus\n", + " definition of HP:0025317 (Cubitus varus)\n", + " \n", + " \n", + " A deformity of the elbow in which there is a deviation of the forearm toward the midline of the body.\n", + " definition of HP:0025317 (Cubitus varus)\n", + " \n", + " \n", + " Abnormal peripheral nervous system ganglion morphology\n", + " definition of HP:0410015 (Abnormal peripheral nervous system ganglion morphology)\n", + " \n", + " \n", + " An abnormality of nerve cell cluster or a group of nerve cell bodies located in the peripheral autonomic nervous system.\n", + " definition of HP:0410015 (Abnormal peripheral nervous system ganglion morphology)\n", + " \n", + " \n", + " #Abnormality of ganglion of peripheral nervous system\n", + " definition of HP:0410015 (Abnormal peripheral nervous system ganglion morphology)\n", + " \n", + " \n", + " Retinopathy of prematurity stage 4\n", + " definition of HP:0500053 (Retinopathy of prematurity stage 4)\n", + " \n", + " \n", + " Scar tissue that forms a continuous sheet coming up from the edge of the vascularized retina. This scar tissue can grow toward the vitreous base/posterior lens capsule resulting in traction, distortion, and even detachment.\n", + " definition of HP:0500053 (Retinopathy of prematurity stage 4)\n", + " \n", + " \n", + " #ROP stage 4\n", + " definition of HP:0500053 (Retinopathy of prematurity stage 4)\n", + " \n", + " \n", + " Abnormal circulating interleukin 9 concentration\n", + " definition of HP:0034160 (Abnormal circulating interleukin 9 concentration)\n", + " \n", + " \n", + " Any deviation from the normal range of the concentration of interleukin 9 in the blood circulation.\n", + " definition of HP:0034160 (Abnormal circulating interleukin 9 concentration)\n", + " \n", + " \n", + " Increased aspartate family amino acid level in urine\n", + " definition of HP:0033096 (Increased aspartate family amino acid level in urine)\n", + " \n", + " \n", + " An elevated level of an aspartate family amino acid in the urine.\n", + " definition of HP:0033096 (Increased aspartate family amino acid level in urine)\n", + " \n", + " \n", + " Red eye\n", + " definition of HP:0025337 (Red eye)\n", + " \n", + " \n", + " A reddish appearance over the white part (sclera) of the eye ranging from a few enlarged blood vessels appearing as wiggly lines over the sclera to a bright red color completely covering to sclera.\n", + " definition of HP:0025337 (Red eye)\n", + " \n", + " \n", + " #Red eye #Red eyes\n", + " definition of HP:0025337 (Red eye)\n", + " \n", + " \n", + " Neonatal electrographic only seizure\n", + " definition of HP:0032811 (Neonatal electrographic only seizure)\n", + " \n", + " \n", + " Neonatal electrographic only seizure is an electrographic event with sudden, repetitive, evolving stereotyped waveforms with a beginning and an end, which is not associated with a clinical manifestation.\n", + " definition of HP:0032811 (Neonatal electrographic only seizure)\n", + " \n", + " \n", + " Facial tics\n", + " definition of HP:0011468 (Facial tics)\n", + " \n", + " \n", + " Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face.\n", + " definition of HP:0011468 (Facial tics)\n", + " \n", + " \n", + " #Cramping of facial muscles #Facial spasms #Facial tics #Jerking of facial muscles #Mimic spasms #Spasms of facial muscles #Twitching of facial muscles\n", + " definition of HP:0011468 (Facial tics)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the skin\n", + " definition of HP:0008065 (Aplasia/Hypoplasia of the skin)\n", + " \n", + " \n", + " #Absent/small skin #Absent/underdeveloped skin\n", + " definition of HP:0008065 (Aplasia/Hypoplasia of the skin)\n", + " \n", + " \n", + " Duplicated clitoris\n", + " definition of HP:0030912 (Duplicated clitoris)\n", + " \n", + " \n", + " Supernumerary clitoris.\n", + " definition of HP:0030912 (Duplicated clitoris)\n", + " \n", + " \n", + " Flexion contracture of digit\n", + " definition of HP:0030044 (Flexion contracture of digit)\n", + " \n", + " \n", + " A bent (flexed) finger or toe joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.\n", + " definition of HP:0030044 (Flexion contracture of digit)\n", + " \n", + " \n", + " Deviation of the 5th toe\n", + " definition of HP:0010344 (Deviation of the 5th toe)\n", + " \n", + " \n", + " #Displacement of the 5th toe #Displacement of the little toe #Displacement of the pinkie toe #Displacement of the pinky toe\n", + " definition of HP:0010344 (Deviation of the 5th toe)\n", + " \n", + " \n", + " Unilateral oligodactyly\n", + " definition of HP:0006230 (Unilateral oligodactyly)\n", + " \n", + " \n", + " Mobitz II atrioventricular block\n", + " definition of HP:0011708 (Mobitz II atrioventricular block)\n", + " \n", + " \n", + " A type of second degree atrioventricular (AV) block characterized by sudden failure to conduct an impulse through the AV node without a preceding change in the PR interval.\n", + " definition of HP:0011708 (Mobitz II atrioventricular block)\n", + " \n", + " \n", + " #Mobitz type 2 atrioventricular block\n", + " definition of HP:0011708 (Mobitz II atrioventricular block)\n", + " \n", + " \n", + " Abnormal CSF/serum albumin ratio\n", + " definition of HP:0030981 (Abnormal CSF/serum albumin ratio)\n", + " \n", + " \n", + " A deviation from the normal range of the ratio of the albumin concentration in the cerebrospinal fluid (CSF) to the concentration in serum (which may be defined as 3.2-9.0). This is an index of blood-brain barrier (BBB) integrity, adjusted for the serum albumin concentration, and an increased ratio is taken as a sign of a loss of integrity of the BBB with leakage of albumin into the CSF.\n", + " definition of HP:0030981 (Abnormal CSF/serum albumin ratio)\n", + " \n", + " \n", + " Abnormal renal insterstitial morphology\n", + " definition of HP:0032581 (Abnormal renal insterstitial morphology)\n", + " \n", + " \n", + " Any structural anomaly of the interstitium of the kidney. The renal interstitium is defined as the intertubular, extraglomerular, extravascular space of the kidney. It is bounded on all sides by tubular and vascular basement membranes and is filled with cells, extracellular matrix, and interstitial fluid.\n", + " definition of HP:0032581 (Abnormal renal insterstitial morphology)\n", + " \n", + " \n", + " Reduced sulfide:quinone oxidoreductase activity\n", + " definition of HP:0034555 (Reduced sulfide:quinone oxidoreductase activity)\n", + " \n", + " \n", + " Reduced activity of the enzyme sulfide:quinone oxidoreductase, which typically is measured in a biopsy specimen from liver or muscle.\n", + " definition of HP:0034555 (Reduced sulfide:quinone oxidoreductase activity)\n", + " \n", + " \n", + " Aplasia of metacarpal bones\n", + " definition of HP:0010048 (Aplasia of metacarpal bones)\n", + " \n", + " \n", + " Developmental defect associated with absence of one or more metacarpal bones.\n", + " definition of HP:0010048 (Aplasia of metacarpal bones)\n", + " \n", + " \n", + " #Absent long bone of hand #Absent metacarpal #Absent metacarpals\n", + " definition of HP:0010048 (Aplasia of metacarpal bones)\n", + " \n", + " \n", + " Abnormal infraorbital artery morphology\n", + " definition of HP:3000060 (Abnormal infraorbital artery morphology)\n", + " \n", + " \n", + " An abnormality of an infraorbital artery.\n", + " definition of HP:3000060 (Abnormal infraorbital artery morphology)\n", + " \n", + " \n", + " #Abnormality of infraorbital artery\n", + " definition of HP:3000060 (Abnormal infraorbital artery morphology)\n", + " \n", + " \n", + " Occipital encephalocele\n", + " definition of HP:0002085 (Occipital encephalocele)\n", + " \n", + " \n", + " A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp.\n", + " definition of HP:0002085 (Occipital encephalocele)\n", + " \n", + " \n", + " #Brain tissue sticks out through back of skull #Occipital meningoencephalocele #Posterior encephalocele\n", + " definition of HP:0002085 (Occipital encephalocele)\n", + " \n", + " \n", + " Decreased circulating A-type natriuretic peptide concentration\n", + " definition of HP:0020184 (Decreased circulating A-type natriuretic peptide concentration)\n", + " \n", + " \n", + " A measurable reduction in circulating levels of Atrial natriuretic peptide hormone, a protein which plays an important role in the regulation of body fluid volume and blood pressure.\n", + " definition of HP:0020184 (Decreased circulating A-type natriuretic peptide concentration)\n", + " \n", + " \n", + " #Decreased circulating A-type natriuretic peptide level\n", + " definition of HP:0020184 (Decreased circulating A-type natriuretic peptide concentration)\n", + " \n", + " \n", + " Decreased circulating creatine kinase concentration\n", + " definition of HP:0025659 (Decreased circulating creatine kinase concentration)\n", + " \n", + " \n", + " A reduction in the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood.\n", + " definition of HP:0025659 (Decreased circulating creatine kinase concentration)\n", + " \n", + " \n", + " Episodic quadriplegia\n", + " definition of HP:0200072 (Episodic quadriplegia)\n", + " \n", + " \n", + " Intermittent episodes of paralysis of all four limbs.\n", + " definition of HP:0200072 (Episodic quadriplegia)\n", + " \n", + " \n", + " Abnormal liver metabolite concentration\n", + " definition of HP:0034644 (Abnormal liver metabolite concentration)\n", + " \n", + " \n", + " The concentration of a metabolite in the liver is above or below the limits of normal.\n", + " definition of HP:0034644 (Abnormal liver metabolite concentration)\n", + " \n", + " \n", + " Duplication of the middle phalanx of the 2nd finger\n", + " definition of HP:0009949 (Duplication of the middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " Partial or complete duplication of the middle phalanx of index finger.\n", + " definition of HP:0009949 (Duplication of the middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Partial/complete duplication of the middle bone of the index finger #Partial/complete duplication of the middle phalanx of the 2nd finger\n", + " definition of HP:0009949 (Duplication of the middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " Flattened femoral head\n", + " definition of HP:0008812 (Flattened femoral head)\n", + " \n", + " \n", + " An abnormally flattened femoral head.\n", + " definition of HP:0008812 (Flattened femoral head)\n", + " \n", + " \n", + " #Flat head of thigh bone\n", + " definition of HP:0008812 (Flattened femoral head)\n", + " \n", + " \n", + " Anterior cerebral artery stenosis\n", + " definition of HP:0012494 (Anterior cerebral artery stenosis)\n", + " \n", + " \n", + " Narrowing or constriction of the inner surface (lumen) of the anterior cerebral artery.\n", + " definition of HP:0012494 (Anterior cerebral artery stenosis)\n", + " \n", + " \n", + " Ameliorated by niacin\n", + " definition of HP:4000175 (Ameliorated by niacin)\n", + " \n", + " \n", + " Applies to a sign or symptom that is improved or made more bearable by ingesting niacin (vitamin B3).\n", + " definition of HP:4000175 (Ameliorated by niacin)\n", + " \n", + " \n", + " #Ameliorated by vitamin B3 #Niacin reverses symptoms\n", + " definition of HP:4000175 (Ameliorated by niacin)\n", + " \n", + " \n", + " Delayed tibial epiphyseal ossification\n", + " definition of HP:6000867 (Delayed tibial epiphyseal ossification)\n", + " \n", + " \n", + " Developmental delay of ossification of an epiphysis of the tibia.\n", + " definition of HP:6000867 (Delayed tibial epiphyseal ossification)\n", + " \n", + " \n", + " Oocyte arrest at metaphase I\n", + " definition of HP:0031516 (Oocyte arrest at metaphase I)\n", + " \n", + " \n", + " Failure of oocytes to proceed through the stages of meiosis with stoppage at the first metaphase stage.\n", + " definition of HP:0031516 (Oocyte arrest at metaphase I)\n", + " \n", + " \n", + " #Metaphase I oocyte meiotic arrest #Oocyte meiotic arrest at metaphase I\n", + " definition of HP:0031516 (Oocyte arrest at metaphase I)\n", + " \n", + " \n", + " Dermatomal\n", + " definition of HP:0025294 (Dermatomal)\n", + " \n", + " \n", + " Applies to an abnormality whose localization corresponds to the dermatomes, i.e., the nerve root distribution.\n", + " definition of HP:0025294 (Dermatomal)\n", + " \n", + " \n", + " #Radicular\n", + " definition of HP:0025294 (Dermatomal)\n", + " \n", + " \n", + " Increased proportion of memory B cells\n", + " definition of HP:0030375 (Increased proportion of memory B cells)\n", + " \n", + " \n", + " An elevation in the proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV).\n", + " definition of HP:0030375 (Increased proportion of memory B cells)\n", + " \n", + " \n", + " Anal margin basal cell carcinoma\n", + " definition of HP:0030443 (Anal margin basal cell carcinoma)\n", + " \n", + " \n", + " A basal cell carcinoma that originates in the anal margin.\n", + " definition of HP:0030443 (Anal margin basal cell carcinoma)\n", + " \n", + " \n", + " Adductor longus contractures\n", + " definition of HP:0006366 (Adductor longus contractures)\n", + " \n", + " \n", + " Abnormality of the anus\n", + " definition of HP:0004378 (Abnormality of the anus)\n", + " \n", + " \n", + " Abnormality of the anal canal.\n", + " definition of HP:0004378 (Abnormality of the anus)\n", + " \n", + " \n", + " #Abnormality of the anus\n", + " definition of HP:0004378 (Abnormality of the anus)\n", + " \n", + " \n", + " Pseudoepiphyses of hand bones\n", + " definition of HP:0004288 (Pseudoepiphyses of hand bones)\n", + " \n", + " \n", + " Enteric neuronal degeneration\n", + " definition of HP:0025030 (Enteric neuronal degeneration)\n", + " \n", + " \n", + " Deterioration of enteric neurons with impairment of enteric neuronal structure. Typical neuropathological findings include qualitative (e.g., neuronal swelling, intranuclear inclusions, axonal degeneration) and quantitative (e.g., reduction in the number of neurons) abnormalities of the enteric neurons.\n", + " definition of HP:0025030 (Enteric neuronal degeneration)\n", + " \n", + " \n", + " Anorexia\n", + " definition of HP:0002039 (Anorexia)\n", + " \n", + " \n", + " Anorexia, or the loss of appetite for food, is a medical condition.\n", + " definition of HP:0002039 (Anorexia)\n", + " \n", + " \n", + " #Anorexia #Deliberately not eating #Obsessive dieting #Refusing to eat\n", + " definition of HP:0002039 (Anorexia)\n", + " \n", + " \n", + " Bronchiolitis\n", + " definition of HP:0011950 (Bronchiolitis)\n", + " \n", + " \n", + " Inflammation of the bronchioles.\n", + " definition of HP:0011950 (Bronchiolitis)\n", + " \n", + " \n", + " Recurrent myoglobinuria\n", + " definition of HP:0003652 (Recurrent myoglobinuria)\n", + " \n", + " \n", + " Recurring episodes of myoglobinuria, i.e., of the presence of myoglobin in the urine. This is usually a consequence of rhabdomyolysis, i.e., of the destruction of muscle tissue.\n", + " definition of HP:0003652 (Recurrent myoglobinuria)\n", + " \n", + " \n", + " #Myoglobinuria, episodic #Myoglobinuria, recurrent\n", + " definition of HP:0003652 (Recurrent myoglobinuria)\n", + " \n", + " \n", + " Reticular pattern on pulmonary HRCT\n", + " definition of HP:0025390 (Reticular pattern on pulmonary HRCT)\n", + " \n", + " \n", + " On pulmonary high-resolution computed tomography, reticular pattern is characterized by innumerable interlacing shadows suggesting a mesh.\n", + " definition of HP:0025390 (Reticular pattern on pulmonary HRCT)\n", + " \n", + " \n", + " Irregular epiphyses of the proximal phalanges of the hand\n", + " definition of HP:0010273 (Irregular epiphyses of the proximal phalanges of the hand)\n", + " \n", + " \n", + " #Irregular end part of the innermost hand bones\n", + " definition of HP:0010273 (Irregular epiphyses of the proximal phalanges of the hand)\n", + " \n", + " \n", + " Bilateral basilar pulmonary fibrosis\n", + " definition of HP:0550005 (Bilateral basilar pulmonary fibrosis)\n", + " \n", + " \n", + " It is a bilateral reticular pattern of linear or lineonodular densities that are most pronounced in basilar portions of the lungs on standard chest x-ray. It is the third minor criterion for scleroderma diagnosis.\n", + " definition of HP:0550005 (Bilateral basilar pulmonary fibrosis)\n", + " \n", + " \n", + " #Lung disease with systemic sclerosis #Scleroderma lung disease #Scleroderma of lung\n", + " definition of HP:0550005 (Bilateral basilar pulmonary fibrosis)\n", + " \n", + " \n", + " EEG with focal epileptiform discharges\n", + " definition of HP:0011185 (EEG with focal epileptiform discharges)\n", + " \n", + " \n", + " EEG discharges recorded in particular areas of a localized (focal) abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).\n", + " definition of HP:0011185 (EEG with focal epileptiform discharges)\n", + " \n", + " \n", + " #Focal EEG Abnormality\n", + " definition of HP:0011185 (EEG with focal epileptiform discharges)\n", + " \n", + " \n", + " Microprolactinoma\n", + " definition of HP:0012341 (Microprolactinoma)\n", + " \n", + " \n", + " A pituitary prolactin cell adenoma of less than 10 mm diameter.\n", + " definition of HP:0012341 (Microprolactinoma)\n", + " \n", + " \n", + " Nevus\n", + " definition of HP:0003764 (Nevus)\n", + " \n", + " \n", + " A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin.\n", + " definition of HP:0003764 (Nevus)\n", + " \n", + " \n", + " #Mole #Naevus\n", + " definition of HP:0003764 (Nevus)\n", + " \n", + " \n", + " Vitreous strands\n", + " definition of HP:0030832 (Vitreous strands)\n", + " \n", + " \n", + " Fiber- or rope-like opacities located within the vitreous humor.\n", + " definition of HP:0030832 (Vitreous strands)\n", + " \n", + " \n", + " Premature loss of primary teeth\n", + " definition of HP:0006323 (Premature loss of primary teeth)\n", + " \n", + " \n", + " Loss of the primary (also known as deciduous) teeth before the usual age.\n", + " definition of HP:0006323 (Premature loss of primary teeth)\n", + " \n", + " \n", + " #Early loss of baby teeth #Early loss of deciduous teeth #Early loss of primary teeth #Premature deciduous tooth loss #Premature loss of baby teeth #Premature loss of deciduous teeth\n", + " definition of HP:0006323 (Premature loss of primary teeth)\n", + " \n", + " \n", + " Urogenital sinus anomaly\n", + " definition of HP:0100779 (Urogenital sinus anomaly)\n", + " \n", + " \n", + " A rare birth defect in women where the urethra and vagina both open into a common channel.\n", + " definition of HP:0100779 (Urogenital sinus anomaly)\n", + " \n", + " \n", + " Anomic aphasia\n", + " definition of HP:0030784 (Anomic aphasia)\n", + " \n", + " \n", + " An inability to name people and objects that are correctly perceived. The individual is able to describe the object in question, but cannot provide the name.\n", + " definition of HP:0030784 (Anomic aphasia)\n", + " \n", + " \n", + " #Amnesic aphasia #Amnestic aphasia #Anomia #Nominal aphasia #Word-finding difficulty\n", + " definition of HP:0030784 (Anomic aphasia)\n", + " \n", + " \n", + " Penoscrotal transposition\n", + " definition of HP:0100600 (Penoscrotal transposition)\n", + " \n", + " \n", + " A partial or complete positional exchange between the penis and the scrotum, with positioning of the scrotum superior to the penis.\n", + " definition of HP:0100600 (Penoscrotal transposition)\n", + " \n", + " \n", + " #Prepenile scrotum\n", + " definition of HP:0100600 (Penoscrotal transposition)\n", + " \n", + " \n", + " Congenital palmoplantar hyperkeratosis\n", + " definition of HP:0007545 (Congenital palmoplantar hyperkeratosis)\n", + " \n", + " \n", + " Abnormal thickening of the skin on the palms and soles that is present at birth.\n", + " definition of HP:0007545 (Congenital palmoplantar hyperkeratosis)\n", + " \n", + " \n", + " #Congenital palmoplantar keratoderma #Congenital palmoplantar keratodermia #Congenital palmoplantar keratosis\n", + " definition of HP:0007545 (Congenital palmoplantar hyperkeratosis)\n", + " \n", + " \n", + " Focal cognitive seizure with dysgraphia/agraphia\n", + " definition of HP:0032699 (Focal cognitive seizure with dysgraphia/agraphia)\n", + " \n", + " \n", + " A focal cognitive seizure characterized by dysgraphia / agraphia as the initial semiological manifestation.\n", + " definition of HP:0032699 (Focal cognitive seizure with dysgraphia/agraphia)\n", + " \n", + " \n", + " Pseudoepiphysis of the distal phalanx of the 4th toe\n", + " definition of HP:0100176 (Pseudoepiphysis of the distal phalanx of the 4th toe)\n", + " \n", + " \n", + " Upper-limb metaphyseal irregularity\n", + " definition of HP:0003850 (Upper-limb metaphyseal irregularity)\n", + " \n", + " \n", + " #Irregular metaphyses of the upper limbs #Irregular wide portion of upper limb bones\n", + " definition of HP:0003850 (Upper-limb metaphyseal irregularity)\n", + " \n", + " \n", + " Bullet-shaped proximal phalanx of the 5th toe\n", + " definition of HP:0100439 (Bullet-shaped proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " An abnormal morphology of the proximal phalanx of the fifth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.\n", + " definition of HP:0100439 (Bullet-shaped proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " #Bullet-shaped innermost bone of little toe #Bullet-shaped innermost bone of pinkie toe #Bullet-shaped innermost bone of pinky toe\n", + " definition of HP:0100439 (Bullet-shaped proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " Hypertensive crisis\n", + " definition of HP:0100735 (Hypertensive crisis)\n", + " \n", + " \n", + " Elevated circulating rT3/T3 ratio\n", + " definition of HP:0034289 (Elevated circulating rT3/T3 ratio)\n", + " \n", + " \n", + " An abnormally increased ratio of the concentrations of reverse T3 to T3 in the blood circulation.\n", + " definition of HP:0034289 (Elevated circulating rT3/T3 ratio)\n", + " \n", + " \n", + " Morbid jealosy\n", + " definition of HP:5200416 (Morbid jealosy)\n", + " \n", + " \n", + " A disorder of delusional content wherein the affected individual believes they are a victim of their partner's infidelity. It is often based on delusional evidence of an erotic or romantic nature. There may be an affective (mood related) component or may be associated with substance use disorders. It may also occur on its own. There may be associated behaviors to monitor or gather evidence of the perceived infidelity.\n", + " definition of HP:5200416 (Morbid jealosy)\n", + " \n", + " \n", + " #Delusion of infidelity #Pathological jealousy\n", + " definition of HP:5200416 (Morbid jealosy)\n", + " \n", + " \n", + " Spermatogenesis maturation arrest\n", + " definition of HP:0031038 (Spermatogenesis maturation arrest)\n", + " \n", + " \n", + " Maturation arrest (MA) is defined as germ cells that fail to complete maturation. Uniform MA is characterized by spermatogenic arrest at the same stage of spermatogenesis throughout the seminiferous tubules. MA is subcategorized into early MA, in which only spermatogonia or spermatocytes are found, and late MA, in which spermatids are detected without spermatozoa.\n", + " definition of HP:0031038 (Spermatogenesis maturation arrest)\n", + " \n", + " \n", + " #Meiotic maturation arrest of spermatogenesis\n", + " definition of HP:0031038 (Spermatogenesis maturation arrest)\n", + " \n", + " \n", + " Fulminant hepatitis\n", + " definition of HP:0004787 (Fulminant hepatitis)\n", + " \n", + " \n", + " Acute hepatitis complicated by acute liver failure with hepatic encephalopathy occurring less than 8 weeks after the onset of jaundice.\n", + " definition of HP:0004787 (Fulminant hepatitis)\n", + " \n", + " \n", + " Diminished tissue glycogen branching enzyme activity\n", + " definition of HP:6000861 (Diminished tissue glycogen branching enzyme activity)\n", + " \n", + " \n", + " Activity of glycogen branching enzyme in tissues below the lower limit of normal. The activity can be measured in multiple tissues including culutured fibroblasts.\n", + " definition of HP:6000861 (Diminished tissue glycogen branching enzyme activity)\n", + " \n", + " \n", + " Abnormal mitochondria in muscle tissue\n", + " definition of HP:0008316 (Abnormal mitochondria in muscle tissue)\n", + " \n", + " \n", + " An abnormality of the mitochondria in muscle tissue.\n", + " definition of HP:0008316 (Abnormal mitochondria in muscle tissue)\n", + " \n", + " \n", + " #Abnormal mitochondria in muscle\n", + " definition of HP:0008316 (Abnormal mitochondria in muscle tissue)\n", + " \n", + " \n", + " Temporal artery tortuosity\n", + " definition of HP:0030165 (Temporal artery tortuosity)\n", + " \n", + " \n", + " The presence of an increased number of twists and turns of the temporal artery.\n", + " definition of HP:0030165 (Temporal artery tortuosity)\n", + " \n", + " \n", + " Elevated circulating medium-chain acylcarnitine concentration\n", + " definition of HP:0035017 (Elevated circulating medium-chain acylcarnitine concentration)\n", + " \n", + " \n", + " Concentration of medium-chain acylcarnitine in the blood circulation above the upper limit of normal. Acylcarnitines are classified according to the number of carbon atoms in the acyl-chain. Medium-chain acylcarnitines have between six and twelve carbon atoms in the acyl-chain (C6-C12),\n", + " definition of HP:0035017 (Elevated circulating medium-chain acylcarnitine concentration)\n", + " \n", + " \n", + " Patchy sclerosis of the distal phalanx of the hallux\n", + " definition of HP:0010081 (Patchy sclerosis of the distal phalanx of the hallux)\n", + " \n", + " \n", + " #Uneven increase in bone density in the outermost bone of big toe\n", + " definition of HP:0010081 (Patchy sclerosis of the distal phalanx of the hallux)\n", + " \n", + " \n", + " Decreased basophil count\n", + " definition of HP:0031808 (Decreased basophil count)\n", + " \n", + " \n", + " An abnormally reduced count of basophils per volume in the blood circulation.\n", + " definition of HP:0031808 (Decreased basophil count)\n", + " \n", + " \n", + " Thumb extension contracture\n", + " definition of HP:0034667 (Thumb extension contracture)\n", + " \n", + " \n", + " Movement in the sagittal plane that increases the angle of the thumb joint (straightens the joint); motion involving posterior bending of the vertebral column or returning to the upright position from a flexed position.\n", + " definition of HP:0034667 (Thumb extension contracture)\n", + " \n", + " \n", + " Bullet-shaped 4th toe phalanx\n", + " definition of HP:0010373 (Bullet-shaped 4th toe phalanx)\n", + " \n", + " \n", + " An abnormal morphology of one or more phalanges of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.\n", + " definition of HP:0010373 (Bullet-shaped 4th toe phalanx)\n", + " \n", + " \n", + " #Bullet-shaped bones of the 4th toe #Bullet-shaped phalanges of the 4th toe\n", + " definition of HP:0010373 (Bullet-shaped 4th toe phalanx)\n", + " \n", + " \n", + " Abnormal neuron morphology\n", + " definition of HP:0012757 (Abnormal neuron morphology)\n", + " \n", + " \n", + " A structural anomaly of a neuron. Neurons are electrically excitable cells that transmit signals throughout the body. Neurons employ both electrical and chemical components in the transmission of information. Neurons are connected to other neurons at synapses and connected to effector organs or cells at neuroeffector junctions.\n", + " definition of HP:0012757 (Abnormal neuron morphology)\n", + " \n", + " \n", + " #Abnormal neuron shape #Abnormal neuronal morphology\n", + " definition of HP:0012757 (Abnormal neuron morphology)\n", + " \n", + " \n", + " Abnormal circulating phenylalanine concentration\n", + " definition of HP:0010893 (Abnormal circulating phenylalanine concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of phenylalanine in the blood circulation.\n", + " definition of HP:0010893 (Abnormal circulating phenylalanine concentration)\n", + " \n", + " \n", + " #Abnormality of phenylalanine metabolism\n", + " definition of HP:0010893 (Abnormal circulating phenylalanine concentration)\n", + " \n", + " \n", + " Recurrent tonsillitis\n", + " definition of HP:0011110 (Recurrent tonsillitis)\n", + " \n", + " \n", + " Inflammation of the tonsils that has occurred repeatedly. The definition of recurrent may vary somewhat, but the criteria used recently as a measure of severity were five or more episodes of true tonsillitis per year, symptoms recurring for at least a year, and episodes that are disabling and that prevent normal functioning. In some cases recurrent tonsillitis may be related to immunosusceptibility. Evidence exists for a genetic predisposition for recurrent tonsillitis.\n", + " definition of HP:0011110 (Recurrent tonsillitis)\n", + " \n", + " \n", + " #Recurrent inflammation of tonsils\n", + " definition of HP:0011110 (Recurrent tonsillitis)\n", + " \n", + " \n", + " Focal verbal automatism seizure\n", + " definition of HP:0032904 (Focal verbal automatism seizure)\n", + " \n", + " \n", + " A type of focal automatism seizure characterized by the production of single or repetitive words, phrases, or brief sentences at onset.\n", + " definition of HP:0032904 (Focal verbal automatism seizure)\n", + " \n", + " \n", + " Testicular fibrosis\n", + " definition of HP:0012860 (Testicular fibrosis)\n", + " \n", + " \n", + " Formation of excess connective tissue in the testicle.\n", + " definition of HP:0012860 (Testicular fibrosis)\n", + " \n", + " \n", + " #Fibrotic testes #Fibrotic testicle\n", + " definition of HP:0012860 (Testicular fibrosis)\n", + " \n", + " \n", + " Abnormal blood sodium concentration\n", + " definition of HP:0010931 (Abnormal blood sodium concentration)\n", + " \n", + " \n", + " An abnormal concentration of sodium.\n", + " definition of HP:0010931 (Abnormal blood sodium concentration)\n", + " \n", + " \n", + " #Abnormal blood Na+ levels #Abnormal circulating Na concentration #Abnormality of sodium homeostasis\n", + " definition of HP:0010931 (Abnormal blood sodium concentration)\n", + " \n", + " \n", + " Elevated plasma citrulline\n", + " definition of HP:0011966 (Elevated plasma citrulline)\n", + " \n", + " \n", + " An increased concentration of citrulline in the blood.\n", + " definition of HP:0011966 (Elevated plasma citrulline)\n", + " \n", + " \n", + " Nocturnal seizures\n", + " definition of HP:0031951 (Nocturnal seizures)\n", + " \n", + " \n", + " Seizures that occur while the affected individual is sleeping.\n", + " definition of HP:0031951 (Nocturnal seizures)\n", + " \n", + " \n", + " #Sleep seizures\n", + " definition of HP:0031951 (Nocturnal seizures)\n", + " \n", + " \n", + " Abnormal salivary gland morphology\n", + " definition of HP:0010286 (Abnormal salivary gland morphology)\n", + " \n", + " \n", + " Any abnormality of the salivary glands, the exocrine glands that produce saliva.\n", + " definition of HP:0010286 (Abnormal salivary gland morphology)\n", + " \n", + " \n", + " #Abnormality of the salivary glands\n", + " definition of HP:0010286 (Abnormal salivary gland morphology)\n", + " \n", + " \n", + " Abnormality of the thyroid gland\n", + " definition of HP:0000820 (Abnormality of the thyroid gland)\n", + " \n", + " \n", + " An abnormality of the thyroid gland.\n", + " definition of HP:0000820 (Abnormality of the thyroid gland)\n", + " \n", + " \n", + " #Abnormality of the thyroid gland #Thyroid abnormality\n", + " definition of HP:0000820 (Abnormality of the thyroid gland)\n", + " \n", + " \n", + " Abnormal renal artery morphology\n", + " definition of HP:0008776 (Abnormal renal artery morphology)\n", + " \n", + " \n", + " Any structural abnormality of the renal artery.\n", + " definition of HP:0008776 (Abnormal renal artery morphology)\n", + " \n", + " \n", + " #Abnormal kidney artery #Abnormality of the renal artery\n", + " definition of HP:0008776 (Abnormal renal artery morphology)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of fingers\n", + " definition of HP:0006265 (Aplasia/Hypoplasia of fingers)\n", + " \n", + " \n", + " Small/hypoplastic or absent/aplastic fingers.\n", + " definition of HP:0006265 (Aplasia/Hypoplasia of fingers)\n", + " \n", + " \n", + " #Absent/small fingers #Absent/underdeveloped fingers\n", + " definition of HP:0006265 (Aplasia/Hypoplasia of fingers)\n", + " \n", + " \n", + " Stiff shoulders\n", + " definition of HP:0009742 (Stiff shoulders)\n", + " \n", + " \n", + " Shoulder joint stiffness is a perceived sensation of tightness in shoulders when attempting to move them after a period of inactivity.\n", + " definition of HP:0009742 (Stiff shoulders)\n", + " \n", + " \n", + " #Stiff shoulders\n", + " definition of HP:0009742 (Stiff shoulders)\n", + " \n", + " \n", + " Bracket epiphysis of the proximal phalanx of the 5th finger\n", + " definition of HP:0009197 (Bracket epiphysis of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " An abnormality of the proximal phalanx of the fifth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.\n", + " definition of HP:0009197 (Bracket epiphysis of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " #Bracket shaped end part of the innermost bone of the little finger #Bracket shaped end part of the innermost bone of the pinkie finger #Bracket shaped end part of the innermost bone of the pinky finger\n", + " definition of HP:0009197 (Bracket epiphysis of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " Intraretinal hemorrhage\n", + " definition of HP:0031805 (Intraretinal hemorrhage)\n", + " \n", + " \n", + " A subtype of fundus hemorrhage occurring within the neurosensory retina. Intraretinal hemorrhages may be 'dot' or' blot' shaped or flame shaped depending upon their depth within the retina.\n", + " definition of HP:0031805 (Intraretinal hemorrhage)\n", + " \n", + " \n", + " #Intraretinal haemorrhage\n", + " definition of HP:0031805 (Intraretinal hemorrhage)\n", + " \n", + " \n", + " Abnormal base excess\n", + " definition of HP:0032281 (Abnormal base excess)\n", + " \n", + " \n", + " Deviation from the normal quantity of base excess, defined as the amount of strong acid (in millimoles per liter) that needs to be added in vitro to 1 liter of fully oxygenated whole blood to return a blood sample to standard conditions (pH of 7.40, Pco2 of 40 mm Hg, and temperature of 37 degrees C).\n", + " definition of HP:0032281 (Abnormal base excess)\n", + " \n", + " \n", + " Mid-frequency hearing loss\n", + " definition of HP:0012781 (Mid-frequency hearing loss)\n", + " \n", + " \n", + " A type of hearing impairment affecting primarily the middle frequencies of sound (1000 Hz to 3000 Hz).\n", + " definition of HP:0012781 (Mid-frequency hearing loss)\n", + " \n", + " \n", + " Biventricular hypertrophy\n", + " definition of HP:0200128 (Biventricular hypertrophy)\n", + " \n", + " \n", + " Thickening of the heart walls in both ventricles.\n", + " definition of HP:0200128 (Biventricular hypertrophy)\n", + " \n", + " \n", + " Metamorphopsia\n", + " definition of HP:0012508 (Metamorphopsia)\n", + " \n", + " \n", + " A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank.\n", + " definition of HP:0012508 (Metamorphopsia)\n", + " \n", + " \n", + " Limited head rotation\n", + " definition of HP:0033357 (Limited head rotation)\n", + " \n", + " \n", + " Reduced range of motion turning the head side to side.\n", + " definition of HP:0033357 (Limited head rotation)\n", + " \n", + " \n", + " Oromandibular dystonia\n", + " definition of HP:0012048 (Oromandibular dystonia)\n", + " \n", + " \n", + " A kind of focal dystonia characterized by forceful contractions of the face, jaw, and/or tongue causing difficulty in opening and closing the mouth and often affecting chewing and speech.\n", + " definition of HP:0012048 (Oromandibular dystonia)\n", + " \n", + " \n", + " #Cranial dystonia\n", + " definition of HP:0012048 (Oromandibular dystonia)\n", + " \n", + " \n", + " Foveal photoreceptor layer loss on macular OCT\n", + " definition of HP:0030614 (Foveal photoreceptor layer loss on macular OCT)\n", + " \n", + " \n", + " Aqueous humor viral DNA positivity\n", + " definition of HP:0430031 (Aqueous humor viral DNA positivity)\n", + " \n", + " \n", + " The presence of viral DNA (e.g., cytomegalovirus, herpes simplex virus, or varicella zoster virus) in the aqueous humor of the eye.\n", + " definition of HP:0430031 (Aqueous humor viral DNA positivity)\n", + " \n", + " \n", + " Elevated urinary mevalonate lactone level\n", + " definition of HP:6000675 (Elevated urinary mevalonate lactone level)\n", + " \n", + " \n", + " The amount of mevalonate lactone in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000675 (Elevated urinary mevalonate lactone level)\n", + " \n", + " \n", + " Microtia, first degree\n", + " definition of HP:0011266 (Microtia, first degree)\n", + " \n", + " \n", + " Presence of all the normal ear components and the median longitudinal length more than two standard deviations below the mean.\n", + " definition of HP:0011266 (Microtia, first degree)\n", + " \n", + " \n", + " #First-degree microtia\n", + " definition of HP:0011266 (Microtia, first degree)\n", + " \n", + " \n", + " 1-minute APGAR score of 4\n", + " definition of HP:0030931 (1-minute APGAR score of 4)\n", + " \n", + " \n", + " Short 2nd toe\n", + " definition of HP:0001885 (Short 2nd toe)\n", + " \n", + " \n", + " Underdevelopment (hypoplasia) of the second toe.\n", + " definition of HP:0001885 (Short 2nd toe)\n", + " \n", + " \n", + " #Short second toe\n", + " definition of HP:0001885 (Short 2nd toe)\n", + " \n", + " \n", + " Chronic cutaneous wound\n", + " definition of HP:0032676 (Chronic cutaneous wound)\n", + " \n", + " \n", + " A cutaneous wound that has failed to proceed through the orderly and timely process to produce an atomic and functional integrity, or proceeded through the repair process without establishing a sustained anatomic and functional result.\n", + " definition of HP:0032676 (Chronic cutaneous wound)\n", + " \n", + " \n", + " #Chronic nonhealing cutaneous wound\n", + " definition of HP:0032676 (Chronic cutaneous wound)\n", + " \n", + " \n", + " Septic embolism\n", + " definition of HP:0033553 (Septic embolism)\n", + " \n", + " \n", + " Embolization of intravascular thrombus containing microorganisms into the distant tissues via arterial system.\n", + " definition of HP:0033553 (Septic embolism)\n", + " \n", + " \n", + " #Septic emboli\n", + " definition of HP:0033553 (Septic embolism)\n", + " \n", + " \n", + " Nipple epidermal Paget cells\n", + " definition of HP:6000624 (Nipple epidermal Paget cells)\n", + " \n", + " \n", + " Malignant, intraepithelial adenocarcinoma cells of variable sizes usually large in size, present singly or in the form of small groups within the epidermis of the nipple. Cells may be ovoid, round, or signet-ring forms, usually mucin positive, and the cytoplasm may contain periodic acid-Schiff (PAS)-positive, diastase-resistant granules, indicating the presence of neutral mucopolysaccharides. The cells possess microscopic features of glandular cells with pale to clear vacuolated cytoplasm, and nuclei are usually high-grade with prominent nucleoli.\n", + " definition of HP:6000624 (Nipple epidermal Paget cells)\n", + " \n", + " \n", + " Irregular phalanges\n", + " definition of HP:0006205 (Irregular phalanges)\n", + " \n", + " \n", + " Alteration of the normally smooth radiographic contour of phalanges producing an irregular appearance.\n", + " definition of HP:0006205 (Irregular phalanges)\n", + " \n", + " \n", + " #Irregular finger bones\n", + " definition of HP:0006205 (Irregular phalanges)\n", + " \n", + " \n", + " Absent epiphyses of the phalanges of the hand\n", + " definition of HP:0010228 (Absent epiphyses of the phalanges of the hand)\n", + " \n", + " \n", + " Absence of one or more epiphyses of the phalanges of the fingers.\n", + " definition of HP:0010228 (Absent epiphyses of the phalanges of the hand)\n", + " \n", + " \n", + " #Absent end part of fingers #Absent epiphyses of the fingers\n", + " definition of HP:0010228 (Absent epiphyses of the phalanges of the hand)\n", + " \n", + " \n", + " Absent epiphyses of the 2nd finger\n", + " definition of HP:0009488 (Absent epiphyses of the 2nd finger)\n", + " \n", + " \n", + " Absence of the epiphyses of the 2nd finger.\n", + " definition of HP:0009488 (Absent epiphyses of the 2nd finger)\n", + " \n", + " \n", + " #Absent end part of index finger\n", + " definition of HP:0009488 (Absent epiphyses of the 2nd finger)\n", + " \n", + " \n", + " Stippled calcification of the elbow\n", + " definition of HP:0003941 (Stippled calcification of the elbow)\n", + " \n", + " \n", + " Fusion of middle ear ossicles\n", + " definition of HP:0005473 (Fusion of middle ear ossicles)\n", + " \n", + " \n", + " Bony fusion of malleus, incus, and stapes.\n", + " definition of HP:0005473 (Fusion of middle ear ossicles)\n", + " \n", + " \n", + " Abnormality of the xiphoid process\n", + " definition of HP:0100892 (Abnormality of the xiphoid process)\n", + " \n", + " \n", + " An abnormality of the xiphoid process of the sternum.\n", + " definition of HP:0100892 (Abnormality of the xiphoid process)\n", + " \n", + " \n", + " Arteriovenous malformation\n", + " definition of HP:0100026 (Arteriovenous malformation)\n", + " \n", + " \n", + " An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries.\n", + " definition of HP:0100026 (Arteriovenous malformation)\n", + " \n", + " \n", + " Abnormal nervous system morphology\n", + " definition of HP:0012639 (Abnormal nervous system morphology)\n", + " \n", + " \n", + " A structural anomaly of the nervous system.\n", + " definition of HP:0012639 (Abnormal nervous system morphology)\n", + " \n", + " \n", + " #Abnormal shape of nervous system #Abnormality of nervous system morphology\n", + " definition of HP:0012639 (Abnormal nervous system morphology)\n", + " \n", + " \n", + " Anti-schistosoma antibody positivity\n", + " definition of HP:0430089 (Anti-schistosoma antibody positivity)\n", + " \n", + " \n", + " The presence of antibodies in the blood circulation that react against a component of a parasite of the genus Schistosomiasis is a parasitic disease historically known as bilharzia caused by the trematode of the genus Schistosoma. Schistosomiasis is a parasitic disease historically known as bilharzia caused by the trematode of the genus Schistosoma.\n", + " definition of HP:0430089 (Anti-schistosoma antibody positivity)\n", + " \n", + " \n", + " #Schistosoma antibody titer high in blood\n", + " definition of HP:0430089 (Anti-schistosoma antibody positivity)\n", + " \n", + " \n", + " Decreased circulating lipoprotein lipase concentration\n", + " definition of HP:0031209 (Decreased circulating lipoprotein lipase concentration)\n", + " \n", + " \n", + " Reduction in the level of lipoprotein lipase in the blood.\n", + " definition of HP:0031209 (Decreased circulating lipoprotein lipase concentration)\n", + " \n", + " \n", + " #Decreased lipoprotein lipase level\n", + " definition of HP:0031209 (Decreased circulating lipoprotein lipase concentration)\n", + " \n", + " \n", + " Frayed humeral metaphyses\n", + " definition of HP:0003912 (Frayed humeral metaphyses)\n", + " \n", + " \n", + " Paraseptal emphysema\n", + " definition of HP:0033649 (Paraseptal emphysema)\n", + " \n", + " \n", + " Paraseptal emphysema is characterized by predominant involvement of the distal alveoli and their ducts and sacs. It is characteristically bounded by any pleural surface and the interlobular septa. This emphysema is characterized by subpleural and peribronchovascular regions of low attenuation separated by intact interlobular septa, sometimes associated with bullae.\n", + " definition of HP:0033649 (Paraseptal emphysema)\n", + " \n", + " \n", + " #Distal acinar emphysema\n", + " definition of HP:0033649 (Paraseptal emphysema)\n", + " \n", + " \n", + " Abnormal palate morphology\n", + " definition of HP:0000174 (Abnormal palate morphology)\n", + " \n", + " \n", + " Any abnormality of the palate, i.e., of roof of the mouth.\n", + " definition of HP:0000174 (Abnormal palate morphology)\n", + " \n", + " \n", + " #Abnormality of the palate #Abnormality of the roof of the mouth #Palatal anomaly #Palate abnormality\n", + " definition of HP:0000174 (Abnormal palate morphology)\n", + " \n", + " \n", + " Bipartite calcaneus\n", + " definition of HP:0008127 (Bipartite calcaneus)\n", + " \n", + " \n", + " A two-part calcaneus, a finding that probably results from delayed coalescence of two primary calcaneal centers of ossification.\n", + " definition of HP:0008127 (Bipartite calcaneus)\n", + " \n", + " \n", + " #Delayed coalescence of bipartite calcanei #Delayed coalescence of calcaneal ossification centers #Delayed coalescence of calcaneal ossification centres #Delayed fusion of bipartite calcanei #Double calcaneal ossification center #Double calcaneal ossification centre #Extra calcaneal ossification center #Extra calcaneal ossification centre\n", + " definition of HP:0008127 (Bipartite calcaneus)\n", + " \n", + " \n", + " Hyperesthesia\n", + " definition of HP:0100963 (Hyperesthesia)\n", + " \n", + " \n", + " Increased sensitivity to stimulation, excluding the special senses, which may refer to various modes of cutaneous sensibility including touch and thermal sensation without pain, as well as to pain.\n", + " definition of HP:0100963 (Hyperesthesia)\n", + " \n", + " \n", + " #Hyperaesthesia\n", + " definition of HP:0100963 (Hyperesthesia)\n", + " \n", + " \n", + " Meteorism\n", + " definition of HP:6000319 (Meteorism)\n", + " \n", + " \n", + " An increase in the gas content inside the bowel associated with distension of the abdomen and hydroaeric noises. The most common symptom of meteorism is a bloated sensation. It may be associated with abdominal discomfort. Some individuals may also complain of a distended stomach and excessive belching and/or passage of flatus.\n", + " definition of HP:6000319 (Meteorism)\n", + " \n", + " \n", + " Ureterovesical stenosis\n", + " definition of HP:0008714 (Ureterovesical stenosis)\n", + " \n", + " \n", + " Age-related nuclear cataract\n", + " definition of HP:0011142 (Age-related nuclear cataract)\n", + " \n", + " \n", + " A type of age-related cataract that primarily affects the nucleus of the lens.\n", + " definition of HP:0011142 (Age-related nuclear cataract)\n", + " \n", + " \n", + " Peptic ulcer\n", + " definition of HP:0004398 (Peptic ulcer)\n", + " \n", + " \n", + " The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the esophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers.\n", + " definition of HP:0004398 (Peptic ulcer)\n", + " \n", + " \n", + " #Sore in the lining of gastrointestinal tract\n", + " definition of HP:0004398 (Peptic ulcer)\n", + " \n", + " \n", + " Anti-muscle-specific tyrosine kinase antibody\n", + " definition of HP:0030210 (Anti-muscle-specific tyrosine kinase antibody)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against muscle specific kinase (anti-MuSK Ab).\n", + " definition of HP:0030210 (Anti-muscle-specific tyrosine kinase antibody)\n", + " \n", + " \n", + " #Anti-muscle-specific tyrosine kinase antibody #Anti-MUSK antibodies #Muscle specific kinase antibody positivity\n", + " definition of HP:0030210 (Anti-muscle-specific tyrosine kinase antibody)\n", + " \n", + " \n", + " Spinal cord tumor\n", + " definition of HP:0010302 (Spinal cord tumor)\n", + " \n", + " \n", + " A neoplasm affecting the spinal cord.\n", + " definition of HP:0010302 (Spinal cord tumor)\n", + " \n", + " \n", + " #Spinal cord tumor #Spinal cord tumour #Tumor of the spinal cord #Tumour of the spinal cord\n", + " definition of HP:0010302 (Spinal cord tumor)\n", + " \n", + " \n", + " Sclerosis of proximal toe phalanx\n", + " definition of HP:0100946 (Sclerosis of proximal toe phalanx)\n", + " \n", + " \n", + " An elevation in bone density in one or more proximal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity.\n", + " definition of HP:0100946 (Sclerosis of proximal toe phalanx)\n", + " \n", + " \n", + " #Increased bone density in innermost toe bone #Sclerosis of the proximal phalanges of the toes\n", + " definition of HP:0100946 (Sclerosis of proximal toe phalanx)\n", + " \n", + " \n", + " Cellulitis\n", + " definition of HP:0100658 (Cellulitis)\n", + " \n", + " \n", + " A bacterial infection and inflammation of the skin und subcutaneous tissues.\n", + " definition of HP:0100658 (Cellulitis)\n", + " \n", + " \n", + " #Bacterial infection of skin #Skin infection\n", + " definition of HP:0100658 (Cellulitis)\n", + " \n", + " \n", + " Abnormality of the phalanges of the 3rd toe\n", + " definition of HP:0010330 (Abnormality of the phalanges of the 3rd toe)\n", + " \n", + " \n", + " #Abnormality of the bones of the 3rd toe\n", + " definition of HP:0010330 (Abnormality of the phalanges of the 3rd toe)\n", + " \n", + " \n", + " Infantile muscular hypotonia\n", + " definition of HP:0008947 (Infantile muscular hypotonia)\n", + " \n", + " \n", + " Muscular hypotonia (abnormally low muscle tone) manifesting in infancy.\n", + " definition of HP:0008947 (Infantile muscular hypotonia)\n", + " \n", + " \n", + " #Decreased muscle tone in infant #Hypotonia early #Hypotonia in infancy #Hypotonia, early #Infantile hypotonia\n", + " definition of HP:0008947 (Infantile muscular hypotonia)\n", + " \n", + " \n", + " Periportal emperipolesis\n", + " definition of HP:0032221 (Periportal emperipolesis)\n", + " \n", + " \n", + " The engulfing of lymphocytes by hepatocytes, which typically occurs in the interface hepatitis area.\n", + " definition of HP:0032221 (Periportal emperipolesis)\n", + " \n", + " \n", + " Mantle zone pattern\n", + " definition of HP:0020257 (Mantle zone pattern)\n", + " \n", + " \n", + " This refers to an architectural pattern of infiltration where atypical lymphocytes surround germinal centers, often expanding the mantle zones but without effacing architecture.\n", + " definition of HP:0020257 (Mantle zone pattern)\n", + " \n", + " \n", + " Pancreatic hamartoma\n", + " definition of HP:0034831 (Pancreatic hamartoma)\n", + " \n", + " \n", + " A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the pancreas.\n", + " definition of HP:0034831 (Pancreatic hamartoma)\n", + " \n", + " \n", + " Bronchial hemorrhage\n", + " definition of HP:0033999 (Bronchial hemorrhage)\n", + " \n", + " \n", + " Bronchial hemorrhage is a focal bleeding located in the bronchial system. It can be diagnosed by tracheobronchoscopy.\n", + " definition of HP:0033999 (Bronchial hemorrhage)\n", + " \n", + " \n", + " #Bronchial bleeding\n", + " definition of HP:0033999 (Bronchial hemorrhage)\n", + " \n", + " \n", + " Excyclotropia\n", + " definition of HP:0031727 (Excyclotropia)\n", + " \n", + " \n", + " A type of cyclotropia (torsion of one or both eye around the visual axis of the eyes) in which the upper poles of the globes are rotated outward (laterally) to each other.\n", + " definition of HP:0031727 (Excyclotropia)\n", + " \n", + " \n", + " Anti-phosphatidyl serine antibody positivity\n", + " definition of HP:0034100 (Anti-phosphatidyl serine antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl serine.\n", + " definition of HP:0034100 (Anti-phosphatidyl serine antibody positivity)\n", + " \n", + " \n", + " Short stature\n", + " definition of HP:0004322 (Short stature)\n", + " \n", + " \n", + " A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \\"short stature\\" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).\n", + " definition of HP:0004322 (Short stature)\n", + " \n", + " \n", + " #Decreased body height #Height less than 3rd percentile #Short stature #Small stature #Stature below 3rd percentile\n", + " definition of HP:0004322 (Short stature)\n", + " \n", + " \n", + " Tessier number 2 facial cleft\n", + " definition of HP:0031573 (Tessier number 2 facial cleft)\n", + " \n", + " \n", + " As is typically seen in isolated cleft cases, a cleft of the lip is present. There is hypoplasia, but not true notching of the ala nasi with flattening of the lateral part of the nose. The nasal root is broadened, with lateral displacement of the inner canthus. The palpebral fissure and lacrimal drainage system are not disturbed. The alveolar cleft is through the lateral incisor area and extends to the pyriform aperture. There is normal septation between the nasal cavity and maxillary sinus. Notching at the junction between the nasal bone is present, as is a broad, flat frontal process of the maxilla. Transverse ethmoid enlargement produces orbital hypertelorism. Above the cleft of the lip and palate is a true broad cleft of the nostril that is medial to the intact, but laterally displaced, tail of the alar cartilage. A shallow soft tissue groove extends superiorly to the asymmetrically widened nasal root. The lacrimal system, palpebral fissures, and eyebrows remain intact. The alveolar cleft extends posteriorly as a complete unilateral cleft of the hard and soft palate. The nasal septum is intact but deviated to the opposite side. The nasal cavity remains separated from the normally pneumatized, although hypoplastic, maxilla on the cleft side. Above the nasomaxillary notching, the ethmoid sinus is less well developed, and there is no pneumatization of the frontal sinus on this side. Anterior rotation of the greater and lesser wings of the sphenoid occurs on the cleft side in relation to the narrower orbit and smaller ethmoid sinus. There is mild asymmetry of the anterior cranial fossa, which is narrower on the cleft side. The cranium is brachycephalic with marked occipital flattening.\n", + " definition of HP:0031573 (Tessier number 2 facial cleft)\n", + " \n", + " \n", + " Delayed peripheral myelination\n", + " definition of HP:0011401 (Delayed peripheral myelination)\n", + " \n", + " \n", + " Delayed myelination in the peripheral nervous system.\n", + " definition of HP:0011401 (Delayed peripheral myelination)\n", + " \n", + " \n", + " Hypotyrosinemia\n", + " definition of HP:0500133 (Hypotyrosinemia)\n", + " \n", + " \n", + " An decreased concentration of tyrosine in the blood.\n", + " definition of HP:0500133 (Hypotyrosinemia)\n", + " \n", + " \n", + " #Decreased tyrosine in blood #Low blood tyrosine concentration\n", + " definition of HP:0500133 (Hypotyrosinemia)\n", + " \n", + " \n", + " Cellular urinary casts\n", + " definition of HP:0031197 (Cellular urinary casts)\n", + " \n", + " \n", + " A type of urinary cast composed of cells incorporated in a protein matrix. The cells can be those found in the urinary sediment (erythrocytes, leuklocytes, renal tubular epithelial cells).\n", + " definition of HP:0031197 (Cellular urinary casts)\n", + " \n", + " \n", + " #Cellular casts\n", + " definition of HP:0031197 (Cellular urinary casts)\n", + " \n", + " \n", + " Eccentric visual fixation\n", + " definition of HP:0025549 (Eccentric visual fixation)\n", + " \n", + " \n", + " A uniocular condition in which there is fixation of an object by a point other than the fovea. This point adopts the principal visual direction. The degree of the eccentric fixation is defined by its distance from the fovea in degrees.\n", + " definition of HP:0025549 (Eccentric visual fixation)\n", + " \n", + " \n", + " #Eccentric fixation\n", + " definition of HP:0025549 (Eccentric visual fixation)\n", + " \n", + " \n", + " Nuchal cord\n", + " definition of HP:0012498 (Nuchal cord)\n", + " \n", + " \n", + " A complication of pregnancy and delivery in which the umbilical cord wraps around the fetal neck once or multiple times.\n", + " definition of HP:0012498 (Nuchal cord)\n", + " \n", + " \n", + " Elevated circulating phytanic acid concentration\n", + " definition of HP:0010571 (Elevated circulating phytanic acid concentration)\n", + " \n", + " \n", + " An abnormal elevation of phytanic acid.\n", + " definition of HP:0010571 (Elevated circulating phytanic acid concentration)\n", + " \n", + " \n", + " #Elevated level of phytanic acid #Elevated levels of phytanic acid\n", + " definition of HP:0010571 (Elevated circulating phytanic acid concentration)\n", + " \n", + " \n", + " Duplicate uterine cervix\n", + " definition of HP:6000414 (Duplicate uterine cervix)\n", + " \n", + " \n", + " A congenital developmental defect characterized by the presence of two cervices on the uterus.\n", + " definition of HP:6000414 (Duplicate uterine cervix)\n", + " \n", + " \n", + " #Cervical duplication\n", + " definition of HP:6000414 (Duplicate uterine cervix)\n", + " \n", + " \n", + " Deviation of the 4th toe\n", + " definition of HP:0010338 (Deviation of the 4th toe)\n", + " \n", + " \n", + " #Displacement of the 4th toe\n", + " definition of HP:0010338 (Deviation of the 4th toe)\n", + " \n", + " \n", + " Precordial pain\n", + " definition of HP:0032141 (Precordial pain)\n", + " \n", + " \n", + " A type of chest pain that arises in the or under the left breast and often described as throbbing, stabbing, or burning, and lasting hours or longer. The pain may arise with or after effort, and may spread to the left arm or left side of the neck.\n", + " definition of HP:0032141 (Precordial pain)\n", + " \n", + " \n", + " Abnormal bronchus morphology\n", + " definition of HP:0025426 (Abnormal bronchus morphology)\n", + " \n", + " \n", + " Any structural anomaly of the bronchi, i.e., of the airways leading from the trachea to the lungs.\n", + " definition of HP:0025426 (Abnormal bronchus morphology)\n", + " \n", + " \n", + " #Abnormality of the bronchi\n", + " definition of HP:0025426 (Abnormal bronchus morphology)\n", + " \n", + " \n", + " Entoptic phenomenon\n", + " definition of HP:6001103 (Entoptic phenomenon)\n", + " \n", + " \n", + " Visual sensations caused by changes within the eye itself, rather than by the normal light stimulation process. Entoptic phenomena are classified in the syndrome as floaters, blue field entoptic phenomenon, photopsia and self-light of the eye.\n", + " definition of HP:6001103 (Entoptic phenomenon)\n", + " \n", + " \n", + " #Entoptic phenomenona\n", + " definition of HP:6001103 (Entoptic phenomenon)\n", + " \n", + " \n", + " Partial fusion of tarsals\n", + " definition of HP:0008097 (Partial fusion of tarsals)\n", + " \n", + " \n", + " Cytologic atypia in mantle cells\n", + " definition of HP:0020270 (Cytologic atypia in mantle cells)\n", + " \n", + " \n", + " Lymphocytes in the mantle zones of lymph node secondary follicles show cellular atypia such as enlarged size, increased cytoplasm, atypical distribution of chromatin, or irregular nuclear contours.\n", + " definition of HP:0020270 (Cytologic atypia in mantle cells)\n", + " \n", + " \n", + " Increased anti-egg IgE antibody level\n", + " definition of HP:0410231 (Increased anti-egg IgE antibody level)\n", + " \n", + " \n", + " Increased level of IgE antibody against eggs, including egg whites, egg yolks, and egg proteins such as ovoalbumin and ovomucoid.\n", + " definition of HP:0410231 (Increased anti-egg IgE antibody level)\n", + " \n", + " \n", + " Recurrent staphylococcal infections\n", + " definition of HP:0007499 (Recurrent staphylococcal infections)\n", + " \n", + " \n", + " Increased susceptibility to staphylococcal infections, as manifested by recurrent episodes of staphylococcal infections.\n", + " definition of HP:0007499 (Recurrent staphylococcal infections)\n", + " \n", + " \n", + " #Recurrent staphylococcal infections\n", + " definition of HP:0007499 (Recurrent staphylococcal infections)\n", + " \n", + " \n", + " Fractured epiphysis of second metacarpal bone\n", + " definition of HP:0041190 (Fractured epiphysis of second metacarpal bone)\n", + " \n", + " \n", + " A partial or complete breakage of the epiphysis of second metacarpal bone.\n", + " definition of HP:0041190 (Fractured epiphysis of second metacarpal bone)\n", + " \n", + " \n", + " #bone epiphysis of second metacarpal bone\n", + " definition of HP:0041190 (Fractured epiphysis of second metacarpal bone)\n", + " \n", + " \n", + " Lip telangiectasia\n", + " definition of HP:0000214 (Lip telangiectasia)\n", + " \n", + " \n", + " Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips.\n", + " definition of HP:0000214 (Lip telangiectasia)\n", + " \n", + " \n", + " #Labial telangiectasia #Lip telangiectases #Telangiectasia of the lips\n", + " definition of HP:0000214 (Lip telangiectasia)\n", + " \n", + " \n", + " Clicking tinnitus\n", + " definition of HP:0034424 (Clicking tinnitus)\n", + " \n", + " \n", + " A type of tinnitus that presents as clicks, resembling the noise made by the snapping together of 2 fingers.\n", + " definition of HP:0034424 (Clicking tinnitus)\n", + " \n", + " \n", + " Irregular respiration\n", + " definition of HP:0012195 (Irregular respiration)\n", + " \n", + " \n", + " Uneven rhythm of breathing.\n", + " definition of HP:0012195 (Irregular respiration)\n", + " \n", + " \n", + " #Irregular respiratory rhythm\n", + " definition of HP:0012195 (Irregular respiration)\n", + " \n", + " \n", + " Premature epimetaphyseal fusion in radius\n", + " definition of HP:0012566 (Premature epimetaphyseal fusion in radius)\n", + " \n", + " \n", + " Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the radius, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.\n", + " definition of HP:0012566 (Premature epimetaphyseal fusion in radius)\n", + " \n", + " \n", + " Cervical motion tenderness\n", + " definition of HP:6000107 (Cervical motion tenderness)\n", + " \n", + " \n", + " Pain that is elicited by moving the uterine cervix. This finding can be ascertained by pelvic exam. Cervical motion tenderness is a gynecological exam finding that could be indicative of peritoneal infection.\n", + " definition of HP:6000107 (Cervical motion tenderness)\n", + " \n", + " \n", + " #Chandelier sign\n", + " definition of HP:6000107 (Cervical motion tenderness)\n", + " \n", + " \n", + " Abnormal circulating alpha mannosidase activity\n", + " definition of HP:4000201 (Abnormal circulating alpha mannosidase activity)\n", + " \n", + " \n", + " Concentration or activity of alpha mannosidase outside of the limits of normal in the blood circulation.\n", + " definition of HP:4000201 (Abnormal circulating alpha mannosidase activity)\n", + " \n", + " \n", + " Abnormal dense granule content\n", + " definition of HP:0012529 (Abnormal dense granule content)\n", + " \n", + " \n", + " A deviation from the normal contents of the platelet alpha granules, which normally contain adenosine triphosphate (ATP), adenosine diphosphate (ADP), serotonin, calcium, and pyrophosphate, which are secreted when platelets are activated.\n", + " definition of HP:0012529 (Abnormal dense granule content)\n", + " \n", + " \n", + " Nephrotic syndrome\n", + " definition of HP:0000100 (Nephrotic syndrome)\n", + " \n", + " \n", + " Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.\n", + " definition of HP:0000100 (Nephrotic syndrome)\n", + " \n", + " \n", + " #Nephrosis\n", + " definition of HP:0000100 (Nephrotic syndrome)\n", + " \n", + " \n", + " Difficulty adjusting from light to dark\n", + " definition of HP:0030513 (Difficulty adjusting from light to dark)\n", + " \n", + " \n", + " Elevated circulating 5-oxoproline concentration\n", + " definition of HP:0033175 (Elevated circulating 5-oxoproline concentration)\n", + " \n", + " \n", + " Concentration of L-pyroglutamic acid in the blood is above the upper limit of normal.\n", + " definition of HP:0033175 (Elevated circulating 5-oxoproline concentration)\n", + " \n", + " \n", + " #Elevated circulating L-pyroglutamic acid concentration\n", + " definition of HP:0033175 (Elevated circulating 5-oxoproline concentration)\n", + " \n", + " \n", + " Perimenopausal\n", + " definition of HP:0040406 (Perimenopausal)\n", + " \n", + " \n", + " Perimenopause, or the menopausal transition, encompasses that period of time during which physiologic changes mark progression toward a woman's final menstrual period. This phase begins with the onset of menstrual irregularities and continues until a woman reaches menopause, or one year after amenorrhea has occurred. Perimenopause can last for a variable amount of time, the median of which is four years.\n", + " definition of HP:0040406 (Perimenopausal)\n", + " \n", + " \n", + " Lack of T cell function\n", + " definition of HP:0005354 (Lack of T cell function)\n", + " \n", + " \n", + " Complete inability of T cells to perform their functions in cell-mediated immunity.\n", + " definition of HP:0005354 (Lack of T cell function)\n", + " \n", + " \n", + " #Absent cellular immunity\n", + " definition of HP:0005354 (Lack of T cell function)\n", + " \n", + " \n", + " Thyroid adenoma\n", + " definition of HP:0000854 (Thyroid adenoma)\n", + " \n", + " \n", + " The presence of a adenoma of the thyroid gland.\n", + " definition of HP:0000854 (Thyroid adenoma)\n", + " \n", + " \n", + " Decreased Wiskott-Aldrich syndrome protein concentration in hematopoietic cells\n", + " definition of HP:6000472 (Decreased Wiskott-Aldrich syndrome protein concentration in hematopoietic cells)\n", + " \n", + " \n", + " The concentration of Wiskott-Aldrich syndrome protein in hematopoietic cells is below the lower limit of normal. This feature is measured by flow cytometry or Western blotting.\n", + " definition of HP:6000472 (Decreased Wiskott-Aldrich syndrome protein concentration in hematopoietic cells)\n", + " \n", + " \n", + " Decreased CSF 3-methoxy-4-hydroxyphenylglycolaldehyde concentration\n", + " definition of HP:6000398 (Decreased CSF 3-methoxy-4-hydroxyphenylglycolaldehyde concentration)\n", + " \n", + " \n", + " The concentration of 3-methoxy-4-hydroxyphenylglycolaldehyde in the cerebrospinal fluid (CSF) is below the lower limit of normal.\n", + " definition of HP:6000398 (Decreased CSF 3-methoxy-4-hydroxyphenylglycolaldehyde concentration)\n", + " \n", + " \n", + " Acrocyanosis\n", + " definition of HP:0001063 (Acrocyanosis)\n", + " \n", + " \n", + " Bluish discoloration of the skin of the hands or feet.\n", + " definition of HP:0001063 (Acrocyanosis)\n", + " \n", + " \n", + " #Persistent blue color of hands or feet #Persistent blue colour of hands or feet\n", + " definition of HP:0001063 (Acrocyanosis)\n", + " \n", + " \n", + " Aplasia of the distal phalanx of the 5th toe\n", + " definition of HP:0100380 (Aplasia of the distal phalanx of the 5th toe)\n", + " \n", + " \n", + " #Absent outermost bone of the little toe #Absent outermost bone of the pinkie toe #Absent outermost bone of the pinky toe\n", + " definition of HP:0100380 (Aplasia of the distal phalanx of the 5th toe)\n", + " \n", + " \n", + " Non-secretory adrenocortical adenoma\n", + " definition of HP:0011745 (Non-secretory adrenocortical adenoma)\n", + " \n", + " \n", + " An hormonally inactive adrenocortical adenoma, that is, an adenoma that does not secrete excessive amounts of adrenal hormones.\n", + " definition of HP:0011745 (Non-secretory adrenocortical adenoma)\n", + " \n", + " \n", + " #Non-secretory adrenal adenoma\n", + " definition of HP:0011745 (Non-secretory adrenocortical adenoma)\n", + " \n", + " \n", + " Iris transillumination defect\n", + " definition of HP:0012805 (Iris transillumination defect)\n", + " \n", + " \n", + " Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris.\n", + " definition of HP:0012805 (Iris transillumination defect)\n", + " \n", + " \n", + " Short chin\n", + " definition of HP:0000331 (Short chin)\n", + " \n", + " \n", + " Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin.\n", + " definition of HP:0000331 (Short chin)\n", + " \n", + " \n", + " #Decreased height of chin #Short chin #Short lower third of face #Vertical deficiency of chin #Vertical hypoplasia of chin\n", + " definition of HP:0000331 (Short chin)\n", + " \n", + " \n", + " Hypoplastic male external genitalia\n", + " definition of HP:0000050 (Hypoplastic male external genitalia)\n", + " \n", + " \n", + " Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra).\n", + " definition of HP:0000050 (Hypoplastic male external genitalia)\n", + " \n", + " \n", + " #Hypoplastic male genitalia #Small male external genitalia #Underdeveloped male genitalia\n", + " definition of HP:0000050 (Hypoplastic male external genitalia)\n", + " \n", + " \n", + " Abnormal male urethral meatus morphology\n", + " definition of HP:0032076 (Abnormal male urethral meatus morphology)\n", + " \n", + " \n", + " Abnormal granulocyte morphology\n", + " definition of HP:0001911 (Abnormal granulocyte morphology)\n", + " \n", + " \n", + " Any structural abnormality or abnormal count of granulocytes.\n", + " definition of HP:0001911 (Abnormal granulocyte morphology)\n", + " \n", + " \n", + " #Abnormality of granulocytes\n", + " definition of HP:0001911 (Abnormal granulocyte morphology)\n", + " \n", + " \n", + " Abnormal ovarian morphology\n", + " definition of HP:0031065 (Abnormal ovarian morphology)\n", + " \n", + " \n", + " Medially deficient radial epiphyses\n", + " definition of HP:0004001 (Medially deficient radial epiphyses)\n", + " \n", + " \n", + " Small acrosomal area\n", + " definition of HP:0034810 (Small acrosomal area)\n", + " \n", + " \n", + " Reduction in size of the acrosome below the lower limit of normal. The acrosome is a unique membranous organelle located over the anterior part of the sperm nucleus. According to the World Health Organization criteria, the acrosome must be clearly visible, comprising approximately 40-70 percent of the sperm head.\n", + " definition of HP:0034810 (Small acrosomal area)\n", + " \n", + " \n", + " Esophageal stricture\n", + " definition of HP:0002043 (Esophageal stricture)\n", + " \n", + " \n", + " A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen.\n", + " definition of HP:0002043 (Esophageal stricture)\n", + " \n", + " \n", + " #Narrowing of esophagus due to inflammation and scar tissue #Narrowing of oesophagus due to inflammation and scar tissue\n", + " definition of HP:0002043 (Esophageal stricture)\n", + " \n", + " \n", + " Carotid artery tortuosity\n", + " definition of HP:0005302 (Carotid artery tortuosity)\n", + " \n", + " \n", + " Abnormal tortuous (i.e., twisted) form of the carotid arteries.\n", + " definition of HP:0005302 (Carotid artery tortuosity)\n", + " \n", + " \n", + " #Tortuous carotid arteries\n", + " definition of HP:0005302 (Carotid artery tortuosity)\n", + " \n", + " \n", + " Aplasia of the tarsal bones\n", + " definition of HP:0010509 (Aplasia of the tarsal bones)\n", + " \n", + " \n", + " Absence of the tarsal bones.\n", + " definition of HP:0010509 (Aplasia of the tarsal bones)\n", + " \n", + " \n", + " #Absent ankle bone #Absent tarsals\n", + " definition of HP:0010509 (Aplasia of the tarsal bones)\n", + " \n", + " \n", + " Abnormality of the epiphysis of the distal phalanx of the 2nd finger\n", + " definition of HP:0009499 (Abnormality of the epiphysis of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Abnormality of the end part of the outermost bone of the index finger #Epiphyseal abnormality of terminal index finger phalanx\n", + " definition of HP:0009499 (Abnormality of the epiphysis of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Low-frequency hearing loss\n", + " definition of HP:0008542 (Low-frequency hearing loss)\n", + " \n", + " \n", + " A type of hearing impairment affecting primarily the low frequencies of sound (125 Hz to 1000 Hz).\n", + " definition of HP:0008542 (Low-frequency hearing loss)\n", + " \n", + " \n", + " #Low-frequency hearing loss\n", + " definition of HP:0008542 (Low-frequency hearing loss)\n", + " \n", + " \n", + " Myotonia of the face\n", + " definition of HP:0012900 (Myotonia of the face)\n", + " \n", + " \n", + " Slowed relaxation of muscles in the face.\n", + " definition of HP:0012900 (Myotonia of the face)\n", + " \n", + " \n", + " Intraosseous lipoma\n", + " definition of HP:0025786 (Intraosseous lipoma)\n", + " \n", + " \n", + " Intraosseous lipomas are rare benign lesions composed of mature fat that reside within the intramedullary canal.\n", + " definition of HP:0025786 (Intraosseous lipoma)\n", + " \n", + " \n", + " #Bone lipoma #Bony lipoma #Intra-osseous lipoma #Lipoma of bone\n", + " definition of HP:0025786 (Intraosseous lipoma)\n", + " \n", + " \n", + " Osteolytic defects of the 1st metacarpal\n", + " definition of HP:0010030 (Osteolytic defects of the 1st metacarpal)\n", + " \n", + " \n", + " Dissolution or degeneration of bone tissue of the 1st metacarpal.\n", + " definition of HP:0010030 (Osteolytic defects of the 1st metacarpal)\n", + " \n", + " \n", + " Enlarged thumb epiphysis\n", + " definition of HP:0009689 (Enlarged thumb epiphysis)\n", + " \n", + " \n", + " Abnormally large size of the epiphyses of the thumb with respect to age-dependent norms.\n", + " definition of HP:0009689 (Enlarged thumb epiphysis)\n", + " \n", + " \n", + " #Enlarged end part of thumb long bone #Enlarged epiphyses of the thumb\n", + " definition of HP:0009689 (Enlarged thumb epiphysis)\n", + " \n", + " \n", + " Coronary artery sandwich anomaly\n", + " definition of HP:0025506 (Coronary artery sandwich anomaly)\n", + " \n", + " \n", + " Origin of the right coronary artery (RCA) from the left sinus of Valsalva or of the left main (LM) or left anterior descending (LAD) coronary artery from the right sinus of Valsalva, with the additional feature that the artery passes between the two great arteries. This carries a risk of the artery being compressed by these two vessels,\n", + " definition of HP:0025506 (Coronary artery sandwich anomaly)\n", + " \n", + " \n", + " #Anomalous coronary artery with aortic origin and course between the great arteries\n", + " definition of HP:0025506 (Coronary artery sandwich anomaly)\n", + " \n", + " \n", + " Abnormal bone ossification\n", + " definition of HP:0011849 (Abnormal bone ossification)\n", + " \n", + " \n", + " Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance.\n", + " definition of HP:0011849 (Abnormal bone ossification)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the gallbladder\n", + " definition of HP:0011466 (Aplasia/Hypoplasia of the gallbladder)\n", + " \n", + " \n", + " Absence or underdevelopment of the gallbladder.\n", + " definition of HP:0011466 (Aplasia/Hypoplasia of the gallbladder)\n", + " \n", + " \n", + " #Absent/small gallbladder #Absent/underdeveloped gallbladder\n", + " definition of HP:0011466 (Aplasia/Hypoplasia of the gallbladder)\n", + " \n", + " \n", + " Bullet-shaped 1st metacarpal\n", + " definition of HP:0010028 (Bullet-shaped 1st metacarpal)\n", + " \n", + " \n", + " The presence of short and wide 1st metacarpal which tapers distally (\\"bullet shaped\\").\n", + " definition of HP:0010028 (Bullet-shaped 1st metacarpal)\n", + " \n", + " \n", + " #Bullet-shaped 1st long bone of hand\n", + " definition of HP:0010028 (Bullet-shaped 1st metacarpal)\n", + " \n", + " \n", + " Positive oropharynx poliovirus nucleic acid test\n", + " definition of HP:6000580 (Positive oropharynx poliovirus nucleic acid test)\n", + " \n", + " \n", + " Detection of poliovirus nucleic acid in the oropharynx by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR.\n", + " definition of HP:6000580 (Positive oropharynx poliovirus nucleic acid test)\n", + " \n", + " \n", + " Pseudo-chilblains on toes\n", + " definition of HP:0034036 (Pseudo-chilblains on toes)\n", + " \n", + " \n", + " Inflammatory chilblain-like nodules on the feet and/or toes.\n", + " definition of HP:0034036 (Pseudo-chilblains on toes)\n", + " \n", + " \n", + " #Chilblain-like toe lesions #Chilblain-like toes #COVID toe\n", + " definition of HP:0034036 (Pseudo-chilblains on toes)\n", + " \n", + " \n", + " Elevated circulating long-chain acylcarnitine concentration\n", + " definition of HP:0035018 (Elevated circulating long-chain acylcarnitine concentration)\n", + " \n", + " \n", + " Concentration of long-chain acylcarnitine in the blood circulation above the upper limit of normal. Acylcarnitines are classified according to the number of carbon atoms in the acyl-chain. Long-chain acylcarnitines have between thirteen and twenty carbon atoms in the acyl-chain (C13-C20),\n", + " definition of HP:0035018 (Elevated circulating long-chain acylcarnitine concentration)\n", + " \n", + " \n", + " Telangiectasia of extensor surfaces\n", + " definition of HP:0007621 (Telangiectasia of extensor surfaces)\n", + " \n", + " \n", + " White forelock\n", + " definition of HP:0002211 (White forelock)\n", + " \n", + " \n", + " A triangular depigmented region of white hairs located in the anterior midline of the scalp.\n", + " definition of HP:0002211 (White forelock)\n", + " \n", + " \n", + " #Poliosis of anterior hair #Poliosis of forelock hair #White part of hair above forehead\n", + " definition of HP:0002211 (White forelock)\n", + " \n", + " \n", + " Irregular dentition\n", + " definition of HP:0040079 (Irregular dentition)\n", + " \n", + " \n", + " #Irregular teeth\n", + " definition of HP:0040079 (Irregular dentition)\n", + " \n", + " \n", + " Symphalangism affecting the phalanges of the hallux\n", + " definition of HP:0010064 (Symphalangism affecting the phalanges of the hallux)\n", + " \n", + " \n", + " #Fused big toe bones #hallucal symphalangism\n", + " definition of HP:0010064 (Symphalangism affecting the phalanges of the hallux)\n", + " \n", + " \n", + " Abnormal pharynx morphology\n", + " definition of HP:0033151 (Abnormal pharynx morphology)\n", + " \n", + " \n", + " A structural anomaly of the pharynx.\n", + " definition of HP:0033151 (Abnormal pharynx morphology)\n", + " \n", + " \n", + " Decreased muscle caveolin-3 level\n", + " definition of HP:6000230 (Decreased muscle caveolin-3 level)\n", + " \n", + " \n", + " The amount of calveolin-3 in muscle tissue is below the lower limit of normal.\n", + " definition of HP:6000230 (Decreased muscle caveolin-3 level)\n", + " \n", + " \n", + " #Decreased muscle caveolin-3 expression\n", + " definition of HP:6000230 (Decreased muscle caveolin-3 level)\n", + " \n", + " \n", + " Elevated circulating oxalate concentration\n", + " definition of HP:6000567 (Elevated circulating oxalate concentration)\n", + " \n", + " \n", + " The concentration of oxalate in the blood circulation is above the upper limit of normal.\n", + " definition of HP:6000567 (Elevated circulating oxalate concentration)\n", + " \n", + " \n", + " Subperiosteal bone resorption\n", + " definition of HP:0003106 (Subperiosteal bone resorption)\n", + " \n", + " \n", + " Loss of bone mass occurring beneath the periosteum (the periosteum is the connective-tissue membrane that surrounds all bones except at the articular surfaces). This process may create a serrated and lace-like appearance in periosteal cortical bone.\n", + " definition of HP:0003106 (Subperiosteal bone resorption)\n", + " \n", + " \n", + " #Subperiosteal erosions\n", + " definition of HP:0003106 (Subperiosteal bone resorption)\n", + " \n", + " \n", + " Abdominal adhesions\n", + " definition of HP:0033134 (Abdominal adhesions)\n", + " \n", + " \n", + " Fibrous bands (i.e., bands of scar-like tissue) that span two or more intra-abdominal organs and/or the inner abdominal wall (i.e. peritoneal membrane).\n", + " definition of HP:0033134 (Abdominal adhesions)\n", + " \n", + " \n", + " #Intra-abdominal adhesion\n", + " definition of HP:0033134 (Abdominal adhesions)\n", + " \n", + " \n", + " Cartilaginous ossification of larynx\n", + " definition of HP:0008747 (Cartilaginous ossification of larynx)\n", + " \n", + " \n", + " Ossification affecting the set of cartilages of larynx.\n", + " definition of HP:0008747 (Cartilaginous ossification of larynx)\n", + " \n", + " \n", + " Hypoglutamatemia\n", + " definition of HP:0500150 (Hypoglutamatemia)\n", + " \n", + " \n", + " A decreased amount of glutamate in the blood.\n", + " definition of HP:0500150 (Hypoglutamatemia)\n", + " \n", + " \n", + " #Decreased blood glutamate concentrations #Low blood glutamate levels\n", + " definition of HP:0500150 (Hypoglutamatemia)\n", + " \n", + " \n", + " Reduced leukocyte alpha-L-fucosidase activity\n", + " definition of HP:0034860 (Reduced leukocyte alpha-L-fucosidase activity)\n", + " \n", + " \n", + " Concentration or activity of an alpha-L-fucosidase as measured in leukocytes is below the limits of normal.\n", + " definition of HP:0034860 (Reduced leukocyte alpha-L-fucosidase activity)\n", + " \n", + " \n", + " Abnormal corneal thickness\n", + " definition of HP:0011486 (Abnormal corneal thickness)\n", + " \n", + " \n", + " An abnormal anteroposterior thickness of the cornea.\n", + " definition of HP:0011486 (Abnormal corneal thickness)\n", + " \n", + " \n", + " #Abnormality of corneal thickness\n", + " definition of HP:0011486 (Abnormal corneal thickness)\n", + " \n", + " \n", + " Epididymal cyst\n", + " definition of HP:0030424 (Epididymal cyst)\n", + " \n", + " \n", + " A smooth, extratesticular, spherical cyst in the head of the epididymis.\n", + " definition of HP:0030424 (Epididymal cyst)\n", + " \n", + " \n", + " #Epididymal cysts\n", + " definition of HP:0030424 (Epididymal cyst)\n", + " \n", + " \n", + " Abnormality of the epiphyses of the elbow\n", + " definition of HP:0003946 (Abnormality of the epiphyses of the elbow)\n", + " \n", + " \n", + " #Abnormality of end part of the elbow bone\n", + " definition of HP:0003946 (Abnormality of the epiphyses of the elbow)\n", + " \n", + " \n", + " Fetal phenobarbital exposure\n", + " definition of HP:0034852 (Fetal phenobarbital exposure)\n", + " \n", + " \n", + " A history of exposure during pregnancy of the mother of a fetus or child to phenobarbital.\n", + " definition of HP:0034852 (Fetal phenobarbital exposure)\n", + " \n", + " \n", + " #Maternal phenobarbital exposure #Phenobarbital exposure during gestation\n", + " definition of HP:0034852 (Fetal phenobarbital exposure)\n", + " \n", + " \n", + " Breast carcinoma\n", + " definition of HP:0003002 (Breast carcinoma)\n", + " \n", + " \n", + " The presence of a carcinoma of the breast.\n", + " definition of HP:0003002 (Breast carcinoma)\n", + " \n", + " \n", + " #Breast cancer\n", + " definition of HP:0003002 (Breast carcinoma)\n", + " \n", + " \n", + " Left ventricular systolic dysfunction\n", + " definition of HP:0025169 (Left ventricular systolic dysfunction)\n", + " \n", + " \n", + " Abnormality of left ventricular contraction, often defined operationally as an ejection fraction of less than 40 percent.\n", + " definition of HP:0025169 (Left ventricular systolic dysfunction)\n", + " \n", + " \n", + " Decreased expression of GPI-anchored proteins on the cell surface\n", + " definition of HP:0041048 (Decreased expression of GPI-anchored proteins on the cell surface)\n", + " \n", + " \n", + " A decrease in the protein expression of GPI-anchor proteins, such as CD55 and CD59, at the cell surface, which suggests a defect in GPI-anchor biosynthesis.\n", + " definition of HP:0041048 (Decreased expression of GPI-anchored proteins on the cell surface)\n", + " \n", + " \n", + " History of recent dental procedure\n", + " definition of HP:4000146 (History of recent dental procedure)\n", + " \n", + " \n", + " Medical history of a dental procedure in recent weeks.\n", + " definition of HP:4000146 (History of recent dental procedure)\n", + " \n", + " \n", + " Microsaccadic pursuit\n", + " definition of HP:0007792 (Microsaccadic pursuit)\n", + " \n", + " \n", + " Periosteal elevation\n", + " definition of HP:6000588 (Periosteal elevation)\n", + " \n", + " \n", + " Lifting or separation of the periosteum from the outer surface of a bone. Periosteal elevation is usually seen in benign process, frequently in cranioencephalic traumas. There is an elevation of the periosteum after blood, like in cephalohematomas.\n", + " definition of HP:6000588 (Periosteal elevation)\n", + " \n", + " \n", + " Calcium carbonate crystalluria\n", + " definition of HP:0020146 (Calcium carbonate crystalluria)\n", + " \n", + " \n", + " The presence of calcium carbonate crystals in the urine.\n", + " definition of HP:0020146 (Calcium carbonate crystalluria)\n", + " \n", + " \n", + " Extramedullary hematopoiesis\n", + " definition of HP:0001978 (Extramedullary hematopoiesis)\n", + " \n", + " \n", + " The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms.\n", + " definition of HP:0001978 (Extramedullary hematopoiesis)\n", + " \n", + " \n", + " Elevated CSF dihydrouracil concentration\n", + " definition of HP:6000211 (Elevated CSF dihydrouracil concentration)\n", + " \n", + " \n", + " The concentration of dihydrouracil in the cerebrospinal fluid (CSF) is above the upper limit of normal.\n", + " definition of HP:6000211 (Elevated CSF dihydrouracil concentration)\n", + " \n", + " \n", + " #Dihydrouracil high in CSF\n", + " definition of HP:6000211 (Elevated CSF dihydrouracil concentration)\n", + " \n", + " \n", + " Typified by high penetrance\n", + " definition of HP:4000158 (Typified by high penetrance)\n", + " \n", + " \n", + " Description of conditions in which only an incomplete but relatively high proportion of individuals with a given genotype exhibit the disease regardless of age assuming a full lifespan of 80 years. There is no commonly accepted definition for incomplete, but high penetrance, but we suggest that this term be applied if at least 80 percent but less than 100 percent of individuals with the given genotype would manifest the disease with a full lifespan.\n", + " definition of HP:4000158 (Typified by high penetrance)\n", + " \n", + " \n", + " Elevated urine suberic acid level\n", + " definition of HP:0033213 (Elevated urine suberic acid level)\n", + " \n", + " \n", + " The concentration of suberic acid in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:0033213 (Elevated urine suberic acid level)\n", + " \n", + " \n", + " #Elevated urine octanedioic acid level\n", + " definition of HP:0033213 (Elevated urine suberic acid level)\n", + " \n", + " \n", + " Vascular granular osmiophilic material deposition\n", + " definition of HP:0003657 (Vascular granular osmiophilic material deposition)\n", + " \n", + " \n", + " Accumulation of granular osmiophilic material in blood vessel walls. Osmiophilic material becomes black upon staining with osmium tetroxide. Deposition of granular osmiophilic material (GOM) is the vascular pathological hallmark of CADASIL, which is the most prevalent hereditary small vessel disease and is caused by missense mutations in the NOTCH3 gene. GOM have been shown to contain NOTCH3 ectodomain (NOTCH3ECD) and extracellular matrix proteins, and can be visualized ultrastructurally in the tunica media of small arteries and capillaries. These electron dense GOM deposits are located in the basement membrane of mural cells, i.e. vascular smooth muscle cells and pericytes. In both manifest and pre-manifest CADASIL patients, GOM deposits are present not only in brain vessels, but also in vessels of other organs, such as the skin.\n", + " definition of HP:0003657 (Vascular granular osmiophilic material deposition)\n", + " \n", + " \n", + " #Granular osmiophilic deposits (GROD) in cells\n", + " definition of HP:0003657 (Vascular granular osmiophilic material deposition)\n", + " \n", + " \n", + " Hyperactive renin-angiotensin system\n", + " definition of HP:0000841 (Hyperactive renin-angiotensin system)\n", + " \n", + " \n", + " An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms.\n", + " definition of HP:0000841 (Hyperactive renin-angiotensin system)\n", + " \n", + " \n", + " Fibular deviation of the 5th toe\n", + " definition of HP:0100346 (Fibular deviation of the 5th toe)\n", + " \n", + " \n", + " Retinal telangiectasia\n", + " definition of HP:0007763 (Retinal telangiectasia)\n", + " \n", + " \n", + " Dilatation of small blood vessels of the retina.\n", + " definition of HP:0007763 (Retinal telangiectasia)\n", + " \n", + " \n", + " Intimal thickening in the coronary arteries\n", + " definition of HP:0005292 (Intimal thickening in the coronary arteries)\n", + " \n", + " \n", + " Myelofibrosis\n", + " definition of HP:0011974 (Myelofibrosis)\n", + " \n", + " \n", + " Replacement of bone marrow by fibrous tissue.\n", + " definition of HP:0011974 (Myelofibrosis)\n", + " \n", + " \n", + " Thyroid atypical adenoma\n", + " definition of HP:0011778 (Thyroid atypical adenoma)\n", + " \n", + " \n", + " Neonatal seizure with bilateral asymmetric automatism\n", + " definition of HP:0032830 (Neonatal seizure with bilateral asymmetric automatism)\n", + " \n", + " \n", + " Neonatal seizure with bilateral asymmetric automatism is a type of neonatal electro-clinical seizure where the electrographic event is correlated with coordinated motor activity, typically oral, usually with impaired awareness, occurring at both sides of the body asymmetrically.\n", + " definition of HP:0032830 (Neonatal seizure with bilateral asymmetric automatism)\n", + " \n", + " \n", + " Periventricular ribbonlike heterotopia\n", + " definition of HP:0032390 (Periventricular ribbonlike heterotopia)\n", + " \n", + " \n", + " Heterotopia that forms a continuous wavy line along the ventricular wall.\n", + " definition of HP:0032390 (Periventricular ribbonlike heterotopia)\n", + " \n", + " \n", + " Gastric lymphoma\n", + " definition of HP:0045038 (Gastric lymphoma)\n", + " \n", + " \n", + " Lymphoma that originates in the stomach itself.\n", + " definition of HP:0045038 (Gastric lymphoma)\n", + " \n", + " \n", + " #Primary gastric lymphoma\n", + " definition of HP:0045038 (Gastric lymphoma)\n", + " \n", + " \n", + " Exercise intolerance\n", + " definition of HP:0003546 (Exercise intolerance)\n", + " \n", + " \n", + " A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender.\n", + " definition of HP:0003546 (Exercise intolerance)\n", + " \n", + " \n", + " #Decreased ability to exercise #Inability to exercise #Low exercise endurance #Poor exercise tolerance\n", + " definition of HP:0003546 (Exercise intolerance)\n", + " \n", + " \n", + " Pinhole visual acuity 1.3 LogMAR\n", + " definition of HP:0030581 (Pinhole visual acuity 1.3 LogMAR)\n", + " \n", + " \n", + " Third heart sound\n", + " definition of HP:0031658 (Third heart sound)\n", + " \n", + " \n", + " The third heart sound (S3) is related to rapid filling in diastole. S3 can be a normal finding in children and adolescents but suggests heart failure in older patients.\n", + " definition of HP:0031658 (Third heart sound)\n", + " \n", + " \n", + " #S3 #Ventricular gallop\n", + " definition of HP:0031658 (Third heart sound)\n", + " \n", + " \n", + " Myoclonic absence seizure\n", + " definition of HP:0011150 (Myoclonic absence seizure)\n", + " \n", + " \n", + " Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterized by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017.\n", + " definition of HP:0011150 (Myoclonic absence seizure)\n", + " \n", + " \n", + " #Myoclonic absence #Myoclonic absences\n", + " definition of HP:0011150 (Myoclonic absence seizure)\n", + " \n", + " \n", + " Stress/infection-induced lactic acidosis\n", + " definition of HP:0004897 (Stress/infection-induced lactic acidosis)\n", + " \n", + " \n", + " A form of lactic acidemia that occurs in relation to stress or infection.\n", + " definition of HP:0004897 (Stress/infection-induced lactic acidosis)\n", + " \n", + " \n", + " Elevated urinary uromodulin level\n", + " definition of HP:0020150 (Elevated urinary uromodulin level)\n", + " \n", + " \n", + " The concentration of uromodulin (also known as Tamm Horsfall protein) in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:0020150 (Elevated urinary uromodulin level)\n", + " \n", + " \n", + " #Elevated urinary Tamm-Horsfall protein concentration\n", + " definition of HP:0020150 (Elevated urinary uromodulin level)\n", + " \n", + " \n", + " Leg dystonia\n", + " definition of HP:0031959 (Leg dystonia)\n", + " \n", + " \n", + " A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the legs.\n", + " definition of HP:0031959 (Leg dystonia)\n", + " \n", + " \n", + " Narrow mediastinum\n", + " definition of HP:0034502 (Narrow mediastinum)\n", + " \n", + " \n", + " Abnormal decrease in the width of the mediastinum.\n", + " definition of HP:0034502 (Narrow mediastinum)\n", + " \n", + " \n", + " Symphalangism affecting the middle phalanx of the 2nd toe\n", + " definition of HP:0010410 (Symphalangism affecting the middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Fused middle bone of 2nd toe\n", + " definition of HP:0010410 (Symphalangism affecting the middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " Sinus tachycardia\n", + " definition of HP:0011703 (Sinus tachycardia)\n", + " \n", + " \n", + " Heart rate of greater than 100 beats per minute.\n", + " definition of HP:0011703 (Sinus tachycardia)\n", + " \n", + " \n", + " #Sinus tach #Sinus tachy\n", + " definition of HP:0011703 (Sinus tachycardia)\n", + " \n", + " \n", + " Enlarged ovaries\n", + " definition of HP:0100879 (Enlarged ovaries)\n", + " \n", + " \n", + " #Enlarged ovaries\n", + " definition of HP:0100879 (Enlarged ovaries)\n", + " \n", + " \n", + " Bull's eye maculopathy\n", + " definition of HP:0011504 (Bull's eye maculopathy)\n", + " \n", + " \n", + " Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation.\n", + " definition of HP:0011504 (Bull's eye maculopathy)\n", + " \n", + " \n", + " #Chloroquine retinopathy\n", + " definition of HP:0011504 (Bull's eye maculopathy)\n", + " \n", + " \n", + " Enlarged epiphyses of the distal phalanges of the hand\n", + " definition of HP:0010249 (Enlarged epiphyses of the distal phalanges of the hand)\n", + " \n", + " \n", + " #Enlarged end part of the outermost hand bones\n", + " definition of HP:0010249 (Enlarged epiphyses of the distal phalanges of the hand)\n", + " \n", + " \n", + " Cystine crystalluria\n", + " definition of HP:0033067 (Cystine crystalluria)\n", + " \n", + " \n", + " Abnormal circulating androgen level\n", + " definition of HP:0030347 (Abnormal circulating androgen level)\n", + " \n", + " \n", + " An anomaly in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.\n", + " definition of HP:0030347 (Abnormal circulating androgen level)\n", + " \n", + " \n", + " Spinocerebellar tract degeneration\n", + " definition of HP:0002503 (Spinocerebellar tract degeneration)\n", + " \n", + " \n", + " #Degeneration of the spinocerebellar tracts #Spinocerebellar degeneration\n", + " definition of HP:0002503 (Spinocerebellar tract degeneration)\n", + " \n", + " \n", + " Acquired abnormal hair pattern\n", + " definition of HP:0011360 (Acquired abnormal hair pattern)\n", + " \n", + " \n", + " An abnormality of the distribution of hair growth that is acquired during the course of life.\n", + " definition of HP:0011360 (Acquired abnormal hair pattern)\n", + " \n", + " \n", + " #Acquired abnormal hair pattern\n", + " definition of HP:0011360 (Acquired abnormal hair pattern)\n", + " \n", + " \n", + " Aplasia/Hypoplasia involving the metacarpal bones\n", + " definition of HP:0005914 (Aplasia/Hypoplasia involving the metacarpal bones)\n", + " \n", + " \n", + " Aplasia or Hypoplasia affecting the metacarpal bones.\n", + " definition of HP:0005914 (Aplasia/Hypoplasia involving the metacarpal bones)\n", + " \n", + " \n", + " #Absent or hypoplastic metacarpals #Absent/small long bones of hand #Absent/underdeveloped long bones of hand #Aplastic/hypoplastic metacarpals #Hypoplastic metacarpals #Hypoplastic/absent metacarpal bones #Hypoplastic/absent metacarpals #Metacarpal aplasia/hypoplasia\n", + " definition of HP:0005914 (Aplasia/Hypoplasia involving the metacarpal bones)\n", + " \n", + " \n", + " Cerebellar cortical atrophy\n", + " definition of HP:0008278 (Cerebellar cortical atrophy)\n", + " \n", + " \n", + " Atrophy (wasting) of the cerebellar cortex.\n", + " definition of HP:0008278 (Cerebellar cortical atrophy)\n", + " \n", + " \n", + " #Cerebellar cortex degeneration\n", + " definition of HP:0008278 (Cerebellar cortical atrophy)\n", + " \n", + " \n", + " Triangular epiphysis of the proximal phalanx of the 3rd finger\n", + " definition of HP:0009356 (Triangular epiphysis of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " A triangular appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.\n", + " definition of HP:0009356 (Triangular epiphysis of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Delta-shaped epiphysis of the proximal phalanx of the 3rd finger #Triangular end part of innermost long bone of the middle finger\n", + " definition of HP:0009356 (Triangular epiphysis of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Elevated circulating 2-trans,4-cis-decadienoylcarnitine concentration\n", + " definition of HP:6000478 (Elevated circulating 2-trans,4-cis-decadienoylcarnitine concentration)\n", + " \n", + " \n", + " The concentration of 2-trans,4-cis-decadienoylcarnitine in the blood circulation is above the upper limit of normal.\n", + " definition of HP:6000478 (Elevated circulating 2-trans,4-cis-decadienoylcarnitine concentration)\n", + " \n", + " \n", + " Cutaneous photosensitivity\n", + " definition of HP:0000992 (Cutaneous photosensitivity)\n", + " \n", + " \n", + " An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.\n", + " definition of HP:0000992 (Cutaneous photosensitivity)\n", + " \n", + " \n", + " #Photosensitive skin #Photosensitive skin rashes #Photosensitivity #Sensitivity to sunlight #Skin photosensitivity #Sun sensitivity\n", + " definition of HP:0000992 (Cutaneous photosensitivity)\n", + " \n", + " \n", + " Periodic paralysis\n", + " definition of HP:0003768 (Periodic paralysis)\n", + " \n", + " \n", + " Episodes of muscle weakness.\n", + " definition of HP:0003768 (Periodic paralysis)\n", + " \n", + " \n", + " #Episodic paralysis\n", + " definition of HP:0003768 (Periodic paralysis)\n", + " \n", + " \n", + " Large carpal bones\n", + " definition of HP:0004237 (Large carpal bones)\n", + " \n", + " \n", + " Increased size of carpal bones.\n", + " definition of HP:0004237 (Large carpal bones)\n", + " \n", + " \n", + " #Large carpals\n", + " definition of HP:0004237 (Large carpal bones)\n", + " \n", + " \n", + " Recurrent urinary tract infections\n", + " definition of HP:0000010 (Recurrent urinary tract infections)\n", + " \n", + " \n", + " Repeated infections of the urinary tract.\n", + " definition of HP:0000010 (Recurrent urinary tract infections)\n", + " \n", + " \n", + " #Frequent urinary tract infections #Recurrent UTIs #Repeated bladder infections #Repeated urinary tract infections #Urinary tract infections #Urinary tract infections, recurrent\n", + " definition of HP:0000010 (Recurrent urinary tract infections)\n", + " \n", + " \n", + " Presence of uterus in 46,XY individual\n", + " definition of HP:0034546 (Presence of uterus in 46,XY individual)\n", + " \n", + " \n", + " A developmental anomaly in which an individual with an X chromosome and a Y chromosome (usually 46,XY) has a uterus. The uterus and Fallopian tubes are derived from the Müllerian duct and thus this phenotype is generally also associated with the presence of Fallopian tubes.\n", + " definition of HP:0034546 (Presence of uterus in 46,XY individual)\n", + " \n", + " \n", + " Decreased fertility in females\n", + " definition of HP:0000868 (Decreased fertility in females)\n", + " \n", + " \n", + " #Decreased fertility in females #Reduced fertility in females\n", + " definition of HP:0000868 (Decreased fertility in females)\n", + " \n", + " \n", + " Increased inflammatory response\n", + " definition of HP:0012649 (Increased inflammatory response)\n", + " \n", + " \n", + " A abnormal increase in the inflammatory response to injury or infection.\n", + " definition of HP:0012649 (Increased inflammatory response)\n", + " \n", + " \n", + " Anti-centromere protein B antibody positivity\n", + " definition of HP:0034079 (Anti-centromere protein B antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CENP-B.\n", + " definition of HP:0034079 (Anti-centromere protein B antibody positivity)\n", + " \n", + " \n", + " #Anti-CENP-B antibody positivity\n", + " definition of HP:0034079 (Anti-centromere protein B antibody positivity)\n", + " \n", + " \n", + " Sclerotic radial metaphysis with longitudinal striations\n", + " definition of HP:0004022 (Sclerotic radial metaphysis with longitudinal striations)\n", + " \n", + " \n", + " Conjunctival telangiectasia\n", + " definition of HP:0000524 (Conjunctival telangiectasia)\n", + " \n", + " \n", + " The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva.\n", + " definition of HP:0000524 (Conjunctival telangiectasia)\n", + " \n", + " \n", + " #Conjunctival telangiectases #Small dilated blood vessels near membrane covering front of eye and eyelids #Telangiectasia, conjunctival\n", + " definition of HP:0000524 (Conjunctival telangiectasia)\n", + " \n", + " \n", + " Spontaneous cerebrospinal fluid leak\n", + " definition of HP:0032934 (Spontaneous cerebrospinal fluid leak)\n", + " \n", + " \n", + " A spontaneous cerebrospinal fluid leak (SCSFL) is a spontaneous and unexplained leak of the cerebrospinal fluid from the dura surrounding either the brain (cranial leak) or spine (spinal leak).\n", + " definition of HP:0032934 (Spontaneous cerebrospinal fluid leak)\n", + " \n", + " \n", + " Early cutaneous photosensitivity\n", + " definition of HP:0007396 (Early cutaneous photosensitivity)\n", + " \n", + " \n", + " Photosensitivity of the skin occurring early in life.\n", + " definition of HP:0007396 (Early cutaneous photosensitivity)\n", + " \n", + " \n", + " #Sun sensitivity occurring early in life\n", + " definition of HP:0007396 (Early cutaneous photosensitivity)\n", + " \n", + " \n", + " Abnormal blood glucose concentration\n", + " definition of HP:0011015 (Abnormal blood glucose concentration)\n", + " \n", + " \n", + " An abnormality of the concentration of glucose in the blood.\n", + " definition of HP:0011015 (Abnormal blood glucose concentration)\n", + " \n", + " \n", + " #Abnormality of blood glucose concentration\n", + " definition of HP:0011015 (Abnormal blood glucose concentration)\n", + " \n", + " \n", + " Reduced lymphocyte surface expression of CD43\n", + " definition of HP:0001983 (Reduced lymphocyte surface expression of CD43)\n", + " \n", + " \n", + " A reduction in the expression of CD43 on the cell surface of lymphocytes.\n", + " definition of HP:0001983 (Reduced lymphocyte surface expression of CD43)\n", + " \n", + " \n", + " #Cd43 defectively expressed on surface of blood cells #Reduced lymphocyte surface expression of sialophorin\n", + " definition of HP:0001983 (Reduced lymphocyte surface expression of CD43)\n", + " \n", + " \n", + " Anti-type VII collagen antibody\n", + " definition of HP:4000031 (Anti-type VII collagen antibody)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against collagen type VII.\n", + " definition of HP:4000031 (Anti-type VII collagen antibody)\n", + " \n", + " \n", + " Fair hair\n", + " definition of HP:0002286 (Fair hair)\n", + " \n", + " \n", + " A lesser degree of hair pigmentation than would otherwise be expected.\n", + " definition of HP:0002286 (Fair hair)\n", + " \n", + " \n", + " #Blond hair #Fair hair #Fair hair color #Fair hair colour #Flaxen hair color #Flaxen hair colour #Light colored hair #Light coloured hair #Sandy hair color #Sandy hair colour #Straw colored hair #Straw coloured hair #Towhead (hair color)\n", + " definition of HP:0002286 (Fair hair)\n", + " \n", + " \n", + " Type 3 schizencephaly\n", + " definition of HP:0025704 (Type 3 schizencephaly)\n", + " \n", + " \n", + " A type of Schizencephaly in which CSF-containing cleft present with non-abutting lining lips of abnormal gray matter.\n", + " definition of HP:0025704 (Type 3 schizencephaly)\n", + " \n", + " \n", + " Mass on thoracic imaging\n", + " definition of HP:0033822 (Mass on thoracic imaging)\n", + " \n", + " \n", + " A mass is any pulmonary, pleural, or mediastinal lesion seen on chest radiographs as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics). Mass usually implies a solid or partly solid opacity. CT allows more exact evaluation of size, location, attenuation, and other features.\n", + " definition of HP:0033822 (Mass on thoracic imaging)\n", + " \n", + " \n", + " Penile hypospadias\n", + " definition of HP:0003244 (Penile hypospadias)\n", + " \n", + " \n", + " Location of the urethral opening on the inferior aspect of the penis.\n", + " definition of HP:0003244 (Penile hypospadias)\n", + " \n", + " \n", + " Achilles tendonitis\n", + " definition of HP:0025273 (Achilles tendonitis)\n", + " \n", + " \n", + " Inflammation of the Achilles tendon.\n", + " definition of HP:0025273 (Achilles tendonitis)\n", + " \n", + " \n", + " Upper limb metaphyseal widening\n", + " definition of HP:0003856 (Upper limb metaphyseal widening)\n", + " \n", + " \n", + " Increased width (breadth) of metaphyses of the arms.\n", + " definition of HP:0003856 (Upper limb metaphyseal widening)\n", + " \n", + " \n", + " #Broad wide portion of upper limb bone #Wide/broad metaphyses of the upper limbs\n", + " definition of HP:0003856 (Upper limb metaphyseal widening)\n", + " \n", + " \n", + " Abnormal CSF aromatic amino acid concentration\n", + " definition of HP:0500214 (Abnormal CSF aromatic amino acid concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of aromatic amino acids in the cerebrospinal fluid.\n", + " definition of HP:0500214 (Abnormal CSF aromatic amino acid concentration)\n", + " \n", + " \n", + " #Abnormal aromatic amino acid levels in cerebrospinal fluid\n", + " definition of HP:0500214 (Abnormal CSF aromatic amino acid concentration)\n", + " \n", + " \n", + " Central fundal arteriolar microaneurysms\n", + " definition of HP:0008014 (Central fundal arteriolar microaneurysms)\n", + " \n", + " \n", + " Microscopic aneurysms of the retinal arterioles near the central part of the fundus, visible as small round dark red dots on the retinal surface (not arising from visible vessels) that are by definition less than the diameter of the major optic veins as they cross the optic disc.\n", + " definition of HP:0008014 (Central fundal arteriolar microaneurysms)\n", + " \n", + " \n", + " Recurrent shingles\n", + " definition of HP:0032275 (Recurrent shingles)\n", + " \n", + " \n", + " Repeated episodes of a localized, painful cutaneous eruption related to reactivation of varicella zoster virus (VZV) and characterized by a characteristic rash in one or two adjacent dermatomes.\n", + " definition of HP:0032275 (Recurrent shingles)\n", + " \n", + " \n", + " Symphalangism of the 3rd finger\n", + " definition of HP:0009445 (Symphalangism of the 3rd finger)\n", + " \n", + " \n", + " Fusion of two or more bones of the 3rd finger.\n", + " definition of HP:0009445 (Symphalangism of the 3rd finger)\n", + " \n", + " \n", + " #Fused middle finger\n", + " definition of HP:0009445 (Symphalangism of the 3rd finger)\n", + " \n", + " \n", + " Tortuous lymphatic vessels\n", + " definition of HP:0033986 (Tortuous lymphatic vessels)\n", + " \n", + " \n", + " The presence of an increased number of twists and turns of lymphatic vessels.\n", + " definition of HP:0033986 (Tortuous lymphatic vessels)\n", + " \n", + " \n", + " #Tortuous lymphatics\n", + " definition of HP:0033986 (Tortuous lymphatic vessels)\n", + " \n", + " \n", + " Progressive neurologic deterioration\n", + " definition of HP:0002344 (Progressive neurologic deterioration)\n", + " \n", + " \n", + " #Neurologic deterioration #Neurologic deterioration, progressive #Progressive mental deterioration #Progressive neurodegeneration #Worsening neurological symptoms\n", + " definition of HP:0002344 (Progressive neurologic deterioration)\n", + " \n", + " \n", + " Heparan sulfate excretion in urine\n", + " definition of HP:0002159 (Heparan sulfate excretion in urine)\n", + " \n", + " \n", + " An increased concentration of heparan sulfates in the urine.\n", + " definition of HP:0002159 (Heparan sulfate excretion in urine)\n", + " \n", + " \n", + " #Heparan sulphate excretion in urine\n", + " definition of HP:0002159 (Heparan sulfate excretion in urine)\n", + " \n", + " \n", + " Methylmalonic aciduria\n", + " definition of HP:0012120 (Methylmalonic aciduria)\n", + " \n", + " \n", + " Increased concentration of methylmalonic acid in the urine.\n", + " definition of HP:0012120 (Methylmalonic aciduria)\n", + " \n", + " \n", + " #High blood methylmalonic acid levels #Methymalonicaciduria\n", + " definition of HP:0012120 (Methylmalonic aciduria)\n", + " \n", + " \n", + " Trifascicular block\n", + " definition of HP:0011715 (Trifascicular block)\n", + " \n", + " \n", + " Abnormal conduction in all three divisions of the intraventricular conducting tissue.\n", + " definition of HP:0011715 (Trifascicular block)\n", + " \n", + " \n", + " Increased circulating cortisol level\n", + " definition of HP:0003118 (Increased circulating cortisol level)\n", + " \n", + " \n", + " Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features.\n", + " definition of HP:0003118 (Increased circulating cortisol level)\n", + " \n", + " \n", + " #Cushing syndrome #Hypercortisolism #Increased circulating cortisol level #Increased cortisol production\n", + " definition of HP:0003118 (Increased circulating cortisol level)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the middle phalanx of the 3rd finger\n", + " definition of HP:0009437 (Aplasia/Hypoplasia of the middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Absent/small middle bone of the middle finger #Absent/underdeveloped middle bone of the middle finger\n", + " definition of HP:0009437 (Aplasia/Hypoplasia of the middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " Focal impaired awareness pedal automatism seizure\n", + " definition of HP:0032921 (Focal impaired awareness pedal automatism seizure)\n", + " \n", + " \n", + " A type of focal automatism seizure in which awareness is partially or fully impaired at some point during the seizure and is characterized by coordinated bilateral or unilateral movements of the feet or legs at onset. The movement is more reminiscent of normal movements in amplitude, and is less frenetic or rapid in comparison to the movements seen in focal hyperkinetic seizures involving the legs.\n", + " definition of HP:0032921 (Focal impaired awareness pedal automatism seizure)\n", + " \n", + " \n", + " Nevus sebaceous\n", + " definition of HP:0010815 (Nevus sebaceous)\n", + " \n", + " \n", + " A congenital, hairless plaque consisting of overgrown epidermis, sebaceous glands, hair follicles, apocrine glands and connective tissue. They are a variant of epidermal naevi. Sebaceous naevi most often appear on the scalp, but they may also arise on the face, neck or forehead. At birth, a sevaceous nevus typically appears as a solitary, smooth, yellow-orange hairless patch. Sebaceous naevi become more pronounced around adolescence, often appearing bumpy, warty or scaly.\n", + " definition of HP:0010815 (Nevus sebaceous)\n", + " \n", + " \n", + " #Naevus sebaceous #Organoid nevus #Sebaceous mole #Sebaceous naevus #Sebaceous nevus\n", + " definition of HP:0010815 (Nevus sebaceous)\n", + " \n", + " \n", + " Umbilical cord prolapse\n", + " definition of HP:6000329 (Umbilical cord prolapse)\n", + " \n", + " \n", + " The presence of the umbilical cord (UC) between the fetal presenting part and the cervix, regardless of the membrane status (intact or ruptured). Descent of the UC through the cervix is essential for diagnosing cord prolapse. It can be either overt (past the presenting part) or occult (alongside the presenting part).\n", + " definition of HP:6000329 (Umbilical cord prolapse)\n", + " \n", + " \n", + " Stippling of the epiphysis of the distal phalanx of the 4th toe\n", + " definition of HP:0100178 (Stippling of the epiphysis of the distal phalanx of the 4th toe)\n", + " \n", + " \n", + " The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 4th toe.\n", + " definition of HP:0100178 (Stippling of the epiphysis of the distal phalanx of the 4th toe)\n", + " \n", + " \n", + " #Speckled calcifications in the end part of the outermost bone of the 4th toe\n", + " definition of HP:0100178 (Stippling of the epiphysis of the distal phalanx of the 4th toe)\n", + " \n", + " \n", + " Ulnar deviation of the 3rd finger\n", + " definition of HP:0009463 (Ulnar deviation of the 3rd finger)\n", + " \n", + " \n", + " Displacement of the 3rd finger towards the ulnar side (i.e., towards the ring finger).\n", + " definition of HP:0009463 (Ulnar deviation of the 3rd finger)\n", + " \n", + " \n", + " #Ulnar deviation of middle fingers\n", + " definition of HP:0009463 (Ulnar deviation of the 3rd finger)\n", + " \n", + " \n", + " Abnormal ductus choledochus morphology\n", + " definition of HP:0100889 (Abnormal ductus choledochus morphology)\n", + " \n", + " \n", + " An abnormality of the Common bile duct, a tube-like anatomic structure in the human gastrointestinal tract, formed by the union of the Common hepatic duct and the Cystic duct from the gall bladder.\n", + " definition of HP:0100889 (Abnormal ductus choledochus morphology)\n", + " \n", + " \n", + " #Abnormality of the common bile duct #Abnormality of the ductus choledochus\n", + " definition of HP:0100889 (Abnormal ductus choledochus morphology)\n", + " \n", + " \n", + " Delayed pubic bone ossification\n", + " definition of HP:0008788 (Delayed pubic bone ossification)\n", + " \n", + " \n", + " Delayed maturation and calcification of the pubic bone.\n", + " definition of HP:0008788 (Delayed pubic bone ossification)\n", + " \n", + " \n", + " #Absent pubic ossification in infancy\n", + " definition of HP:0008788 (Delayed pubic bone ossification)\n", + " \n", + " \n", + " Postductal coarctation of the aorta\n", + " definition of HP:0011647 (Postductal coarctation of the aorta)\n", + " \n", + " \n", + " Narrowing or constriction of the aorta localized distal to the ductus arteriosus, i.e., to the postductal region of aortic arch.\n", + " definition of HP:0011647 (Postductal coarctation of the aorta)\n", + " \n", + " \n", + " #Postductal aortic coarctation\n", + " definition of HP:0011647 (Postductal coarctation of the aorta)\n", + " \n", + " \n", + " Nasolacrimal sac epithelial papillary carcinoma\n", + " definition of HP:0500037 (Nasolacrimal sac epithelial papillary carcinoma)\n", + " \n", + " \n", + " The malignant epithelial neoplasm with papillary growths in the nasolacrimal sac.\n", + " definition of HP:0500037 (Nasolacrimal sac epithelial papillary carcinoma)\n", + " \n", + " \n", + " Hashimoto thyroiditis\n", + " definition of HP:0000872 (Hashimoto thyroiditis)\n", + " \n", + " \n", + " A chronic, autoimmune type of thyroiditis associated with hypothyroidism.\n", + " definition of HP:0000872 (Hashimoto thyroiditis)\n", + " \n", + " \n", + " #Chronic lymphocytic thyroiditis #Hashimoto's thyroiditis\n", + " definition of HP:0000872 (Hashimoto thyroiditis)\n", + " \n", + " \n", + " Increased level of gamma-aminobutyric acid in urine\n", + " definition of HP:0500253 (Increased level of gamma-aminobutyric acid in urine)\n", + " \n", + " \n", + " Elevated concentration of gamma-aminobutyric acid in the urine.\n", + " definition of HP:0500253 (Increased level of gamma-aminobutyric acid in urine)\n", + " \n", + " \n", + " #Increased urinary excretion of gamma-aminobutyric acid (GABA)\n", + " definition of HP:0500253 (Increased level of gamma-aminobutyric acid in urine)\n", + " \n", + " \n", + " Undulate clavicles\n", + " definition of HP:0010560 (Undulate clavicles)\n", + " \n", + " \n", + " An abnormally wavy surface or edge of the clavicles.\n", + " definition of HP:0010560 (Undulate clavicles)\n", + " \n", + " \n", + " #Wavy clavicles #Wavy collarbone\n", + " definition of HP:0010560 (Undulate clavicles)\n", + " \n", + " \n", + " Elevated urinary epinephrine level\n", + " definition of HP:0003639 (Elevated urinary epinephrine level)\n", + " \n", + " \n", + " The concentration of epinephrine in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:0003639 (Elevated urinary epinephrine level)\n", + " \n", + " \n", + " #Increased urinary epinephrine\n", + " definition of HP:0003639 (Elevated urinary epinephrine level)\n", + " \n", + " \n", + " Anti-glycosylphosphatidylinositol anchored high-density lipoprotein binding protein 1 antibody positivity\n", + " definition of HP:0025731 (Anti-glycosylphosphatidylinositol anchored high-density lipoprotein binding protein 1 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against glycosylphosphatidylinositol anchored high-density lipoprotein binding protein 1.\n", + " definition of HP:0025731 (Anti-glycosylphosphatidylinositol anchored high-density lipoprotein binding protein 1 antibody positivity)\n", + " \n", + " \n", + " #Anti-GPIHBP1 antibody positivity\n", + " definition of HP:0025731 (Anti-glycosylphosphatidylinositol anchored high-density lipoprotein binding protein 1 antibody positivity)\n", + " \n", + " \n", + " Reduced C-peptide level\n", + " definition of HP:0030795 (Reduced C-peptide level)\n", + " \n", + " \n", + " A decreased concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with reduced insulin secretion.\n", + " definition of HP:0030795 (Reduced C-peptide level)\n", + " \n", + " \n", + " #Reduced C peptide level\n", + " definition of HP:0030795 (Reduced C-peptide level)\n", + " \n", + " \n", + " Increased circulating immature neutrophil count\n", + " definition of HP:0032236 (Increased circulating immature neutrophil count)\n", + " \n", + " \n", + " An abnormally increased number of immature neutrophils in the peripheral blood circulation.\n", + " definition of HP:0032236 (Increased circulating immature neutrophil count)\n", + " \n", + " \n", + " Absent vertebra\n", + " definition of HP:0008465 (Absent vertebra)\n", + " \n", + " \n", + " A developmental defect characterized by agenesis of one or more vertebral bodies.\n", + " definition of HP:0008465 (Absent vertebra)\n", + " \n", + " \n", + " #Absent vertebrae\n", + " definition of HP:0008465 (Absent vertebra)\n", + " \n", + " \n", + " Increased circulating farnesol concentration\n", + " definition of HP:0033083 (Increased circulating farnesol concentration)\n", + " \n", + " \n", + " An elevated level of farnesol in the blood circulation.\n", + " definition of HP:0033083 (Increased circulating farnesol concentration)\n", + " \n", + " \n", + " Parathyroid hyperplasia\n", + " definition of HP:0008208 (Parathyroid hyperplasia)\n", + " \n", + " \n", + " Hyperplasia of the parathyroid gland.\n", + " definition of HP:0008208 (Parathyroid hyperplasia)\n", + " \n", + " \n", + " #Enlarged parathyroid glands\n", + " definition of HP:0008208 (Parathyroid hyperplasia)\n", + " \n", + " \n", + " Stippling of thumb epiphysis\n", + " definition of HP:0009695 (Stippling of thumb epiphysis)\n", + " \n", + " \n", + " The presence of abnormal punctate (speckled, dot-like) calcifications in one or more of the epiphyses of the thumb.\n", + " definition of HP:0009695 (Stippling of thumb epiphysis)\n", + " \n", + " \n", + " #Speckled calcifications in end part of thumb bone #Stippling of the epiphyses of the thumb\n", + " definition of HP:0009695 (Stippling of thumb epiphysis)\n", + " \n", + " \n", + " Broad finger\n", + " definition of HP:0001500 (Broad finger)\n", + " \n", + " \n", + " Increased width of a non-thumb digit of the hand.\n", + " definition of HP:0001500 (Broad finger)\n", + " \n", + " \n", + " #Broad finger #Broad fingers #Wide fingers\n", + " definition of HP:0001500 (Broad finger)\n", + " \n", + " \n", + " Rectoureteral fistula\n", + " definition of HP:0034452 (Rectoureteral fistula)\n", + " \n", + " \n", + " An abnormal connection (fistula) between the rectum and the ureter.\n", + " definition of HP:0034452 (Rectoureteral fistula)\n", + " \n", + " \n", + " Typified by somatic mosaicism\n", + " definition of HP:0001442 (Typified by somatic mosaicism)\n", + " \n", + " \n", + " Description of conditions in which affected individuals typically display somatic mosaicism, i.e., genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations. In many conditions typified by somatic mosaicism, constitutive mutation is lethal and cases are exclusively or predominantly mosaic.\n", + " definition of HP:0001442 (Typified by somatic mosaicism)\n", + " \n", + " \n", + " #Autosomal dominant somatic cell mutation #Somatic mosaicism #Somatic mutation\n", + " definition of HP:0001442 (Typified by somatic mosaicism)\n", + " \n", + " \n", + " Muscular subvalvular aortic stenosis\n", + " definition of HP:0001691 (Muscular subvalvular aortic stenosis)\n", + " \n", + " \n", + " A type of subvalvular aortic stenosis resulting from thickening of the musculature of the interventricular septum, which results in obstruction to blood flow through the left-ventricular outflow tract.\n", + " definition of HP:0001691 (Muscular subvalvular aortic stenosis)\n", + " \n", + " \n", + " #Muscular subaortic stenosis\n", + " definition of HP:0001691 (Muscular subvalvular aortic stenosis)\n", + " \n", + " \n", + " Hypoplastic olfactory lobes\n", + " definition of HP:0006894 (Hypoplastic olfactory lobes)\n", + " \n", + " \n", + " Aortic arch calcification\n", + " definition of HP:0005303 (Aortic arch calcification)\n", + " \n", + " \n", + " Calcification, that is, pathological deposition of calcium salts in the arch of aorta.\n", + " definition of HP:0005303 (Aortic arch calcification)\n", + " \n", + " \n", + " Fractured scaphoid bone\n", + " definition of HP:6001107 (Fractured scaphoid bone)\n", + " \n", + " \n", + " A partial or complete breakage of the scaphoid bone.\n", + " definition of HP:6001107 (Fractured scaphoid bone)\n", + " \n", + " \n", + " #Scaphoid bone fracture #Scaphoid fracture\n", + " definition of HP:6001107 (Fractured scaphoid bone)\n", + " \n", + " \n", + " Frontal hirsutism\n", + " definition of HP:0011335 (Frontal hirsutism)\n", + " \n", + " \n", + " Excessive amount of hair growth on forehead.\n", + " definition of HP:0011335 (Frontal hirsutism)\n", + " \n", + " \n", + " #Hairy forehead #Hirsute forehead\n", + " definition of HP:0011335 (Frontal hirsutism)\n", + " \n", + " \n", + " Primary hypercortisolism\n", + " definition of HP:0001579 (Primary hypercortisolism)\n", + " \n", + " \n", + " Hypercortisolemia associated with a primary defect of the adrenal gland leading to overproduction of cortisol.\n", + " definition of HP:0001579 (Primary hypercortisolism)\n", + " \n", + " \n", + " Erythroid dysplasia\n", + " definition of HP:0031688 (Erythroid dysplasia)\n", + " \n", + " \n", + " Dysplasia in the erythroid lineage, which presents with a variety of morphological changes in the bone marrow, including nuclear budding or irregular nuclear contour in erythroblasts.\n", + " definition of HP:0031688 (Erythroid dysplasia)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the phalanges of the 5th finger\n", + " definition of HP:0009376 (Aplasia/Hypoplasia of the phalanges of the 5th finger)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the phalanges of the 5th finger.\n", + " definition of HP:0009376 (Aplasia/Hypoplasia of the phalanges of the 5th finger)\n", + " \n", + " \n", + " #Absent/small little finger bones #Absent/small pinkie finger bones #Absent/small pinky finger bones #Absent/underdeveloped pinky finger bones\n", + " definition of HP:0009376 (Aplasia/Hypoplasia of the phalanges of the 5th finger)\n", + " \n", + " \n", + " Exodeviation\n", + " definition of HP:0020049 (Exodeviation)\n", + " \n", + " \n", + " A manifest or latent ocular deviation in which one or both eyes tends to deviate temporally.\n", + " definition of HP:0020049 (Exodeviation)\n", + " \n", + " \n", + " #Divergent strabismus\n", + " definition of HP:0020049 (Exodeviation)\n", + " \n", + " \n", + " Abnormal circulating carnosine concentration\n", + " definition of HP:0500160 (Abnormal circulating carnosine concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of carnosine in the blood circulation.\n", + " definition of HP:0500160 (Abnormal circulating carnosine concentration)\n", + " \n", + " \n", + " #Abnormality of carnosine metabolism\n", + " definition of HP:0500160 (Abnormal circulating carnosine concentration)\n", + " \n", + " \n", + " Osteolytic defects of the phalanges of the hallux\n", + " definition of HP:0010062 (Osteolytic defects of the phalanges of the hallux)\n", + " \n", + " \n", + " Radiculomegaly\n", + " definition of HP:0033189 (Radiculomegaly)\n", + " \n", + " \n", + " Tooth root length more than 2 SD above mean, or subjectively apparently increased tooth root length.\n", + " definition of HP:0033189 (Radiculomegaly)\n", + " \n", + " \n", + " #Long dental root #Rhizomegaly #Root gigantism\n", + " definition of HP:0033189 (Radiculomegaly)\n", + " \n", + " \n", + " Abnormal muscle fiber myotilin\n", + " definition of HP:0030226 (Abnormal muscle fiber myotilin)\n", + " \n", + " \n", + " A deviation from normal in the expression of myotilin in muscle tissue. Myotilin is a 57kDa cytoskeletal protein.\n", + " definition of HP:0030226 (Abnormal muscle fiber myotilin)\n", + " \n", + " \n", + " #Abnormal muscle fibre myotilin\n", + " definition of HP:0030226 (Abnormal muscle fiber myotilin)\n", + " \n", + " \n", + " Decreased sialylation of O-linked protein glycosylation\n", + " definition of HP:0012363 (Decreased sialylation of O-linked protein glycosylation)\n", + " \n", + " \n", + " An reduced addition of sialic acids to O-linked glycans.\n", + " definition of HP:0012363 (Decreased sialylation of O-linked protein glycosylation)\n", + " \n", + " \n", + " Cephalohematoma\n", + " definition of HP:0012541 (Cephalohematoma)\n", + " \n", + " \n", + " Hemorrhage between the skull and periosteum of a newborn resulting from rupture of blood vessels that cross the periosteum.\n", + " definition of HP:0012541 (Cephalohematoma)\n", + " \n", + " \n", + " #Cephalohaematoma\n", + " definition of HP:0012541 (Cephalohematoma)\n", + " \n", + " \n", + " Thyroid agenesis\n", + " definition of HP:0008191 (Thyroid agenesis)\n", + " \n", + " \n", + " The congenital absence of the thyroid gland.\n", + " definition of HP:0008191 (Thyroid agenesis)\n", + " \n", + " \n", + " Eyelid myoclonus\n", + " definition of HP:0025097 (Eyelid myoclonus)\n", + " \n", + " \n", + " Marked, involuntary jerking of the eyelids.\n", + " definition of HP:0025097 (Eyelid myoclonus)\n", + " \n", + " \n", + " #Blepharoclonus\n", + " definition of HP:0025097 (Eyelid myoclonus)\n", + " \n", + " \n", + " Hodgkin morphology cells\n", + " definition of HP:0020277 (Hodgkin morphology cells)\n", + " \n", + " \n", + " Hodgkin cells are typically large and often show very large nucleoli and sometimes binucleation or multinucleation. Reed-Sternberg cells are a type of Hodgkin cell that is binucleated with very large nucleoli that stains slightly red on H&E stained sections (often said to mimic owl eyes). Other Hodgkin cell morphologies include cells that are dying with dark basophilic (blue) nuclei that appear somewhat smudged (mummified cells) and cells with a large space around or adjacent to the nuclei and retracted cytoplasm after tissue fixation (lacunar cells). Hodgkin cells are characteristic of Hodgkin lymphoma, however several non-Hodgkin lymphomas and noN-neoplastic conditions are known to sometimes show a few similar morphology cells.\n", + " definition of HP:0020277 (Hodgkin morphology cells)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the pancreas\n", + " definition of HP:0100800 (Aplasia/Hypoplasia of the pancreas)\n", + " \n", + " \n", + " A congenital underdevelopment (aplasia or hypoplasia) of the pancreas.\n", + " definition of HP:0100800 (Aplasia/Hypoplasia of the pancreas)\n", + " \n", + " \n", + " #Absent/small pancreas #Absent/underdeveloped pancreas\n", + " definition of HP:0100800 (Aplasia/Hypoplasia of the pancreas)\n", + " \n", + " \n", + " Increased neutrophil ribosomes\n", + " definition of HP:0041046 (Increased neutrophil ribosomes)\n", + " \n", + " \n", + " An increased number of ribosomes detected in neutrophils.\n", + " definition of HP:0041046 (Increased neutrophil ribosomes)\n", + " \n", + " \n", + " Thin-cap fibroatheroma\n", + " definition of HP:0031012 (Thin-cap fibroatheroma)\n", + " \n", + " \n", + " Thin-cap fibroatheroma is characterized by a relatively large necrotic core with an overlying thin fibrous cap measuring less than 65 micrometers and typically containing numerous macrophages, and is considered to be the precursor lesion of plaque rupture which is the most common cause of coronary thrombosis.\n", + " definition of HP:0031012 (Thin-cap fibroatheroma)\n", + " \n", + " \n", + " #TCFA\n", + " definition of HP:0031012 (Thin-cap fibroatheroma)\n", + " \n", + " \n", + " Adrenocortical cytomegaly\n", + " definition of HP:0008186 (Adrenocortical cytomegaly)\n", + " \n", + " \n", + " The presence of large polyhedral cells with eosinophilic granular cytoplasm and enlarged nuclei in the adrenal cortex.\n", + " definition of HP:0008186 (Adrenocortical cytomegaly)\n", + " \n", + " \n", + " Abnormal circulating neopterin concentration\n", + " definition of HP:0040206 (Abnormal circulating neopterin concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of neopterin in the blood circulation.\n", + " definition of HP:0040206 (Abnormal circulating neopterin concentration)\n", + " \n", + " \n", + " Symphalangism affecting the proximal phalanx of the 2nd finger\n", + " definition of HP:0009586 (Symphalangism affecting the proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Fusion of the proximal phalanx of the 2nd finger with another bone.\n", + " definition of HP:0009586 (Symphalangism affecting the proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Fused innermost bone of index finger\n", + " definition of HP:0009586 (Symphalangism affecting the proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Metaphyseal striations\n", + " definition of HP:0031367 (Metaphyseal striations)\n", + " \n", + " \n", + " Longitudinal densities on radiographs located in a metaphysis (the narrow region of a long bone between the epiphysis and the diaphysis).\n", + " definition of HP:0031367 (Metaphyseal striations)\n", + " \n", + " \n", + " #Striated metaphysis\n", + " definition of HP:0031367 (Metaphyseal striations)\n", + " \n", + " \n", + " Secondary microcephaly\n", + " definition of HP:0005484 (Secondary microcephaly)\n", + " \n", + " \n", + " Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth.\n", + " definition of HP:0005484 (Secondary microcephaly)\n", + " \n", + " \n", + " #Acquired microcephaly #Deceleration of head growth #Microcephaly, acquired #Microcephaly, postnatal #Postnatal deceleration of head circumference #Postnatal microcephaly\n", + " definition of HP:0005484 (Secondary microcephaly)\n", + " \n", + " \n", + " Butterfly vertebrae\n", + " definition of HP:0003316 (Butterfly vertebrae)\n", + " \n", + " \n", + " A butterfly vertebra (sagittal cleft vertebra or anterior rachischisis) is a sagittal defect in the vertebral body caused by failure of fusion of the two lateral chondrification centers during embryogenesis. The name is based on the appearance of the two hemivertebrae emerging as butterfly wings from the central cleft on x-ray.\n", + " definition of HP:0003316 (Butterfly vertebrae)\n", + " \n", + " \n", + " #Anterior rachischisis #Butterfly vertebrae #Sagittal clefting of vertebrae\n", + " definition of HP:0003316 (Butterfly vertebrae)\n", + " \n", + " \n", + " Abnormality of peripheral somatosensory evoked potentials\n", + " definition of HP:0100290 (Abnormality of peripheral somatosensory evoked potentials)\n", + " \n", + " \n", + " Sectoral retinitis pigmentosa\n", + " definition of HP:0031172 (Sectoral retinitis pigmentosa)\n", + " \n", + " \n", + " A variant of retinitis pigmentosa in which there is a regional distribution of the retinal degeneration.\n", + " definition of HP:0031172 (Sectoral retinitis pigmentosa)\n", + " \n", + " \n", + " Salivary basal cell adenoma\n", + " definition of HP:6000007 (Salivary basal cell adenoma)\n", + " \n", + " \n", + " A rare neoplasm consisting of a monomorphic population of basaloid epithelial cells, and it accounts for approximately 1-2% of all salivary gland tumors.\n", + " definition of HP:6000007 (Salivary basal cell adenoma)\n", + " \n", + " \n", + " Bendopnea\n", + " definition of HP:6000013 (Bendopnea)\n", + " \n", + " \n", + " Dyspnea as a result of bending forward while not holding one's breath; dyspnea or shortness of breath onset within 30 seconds of bending forward.\n", + " definition of HP:6000013 (Bendopnea)\n", + " \n", + " \n", + " Fractured forearm bones\n", + " definition of HP:0003961 (Fractured forearm bones)\n", + " \n", + " \n", + " Bone fracture in the radius, ulna, or wrist.\n", + " definition of HP:0003961 (Fractured forearm bones)\n", + " \n", + " \n", + " #Broken forearm #Fracture of the forearm #Fractured forearm bones\n", + " definition of HP:0003961 (Fractured forearm bones)\n", + " \n", + " \n", + " Ketoacidosis\n", + " definition of HP:0001993 (Ketoacidosis)\n", + " \n", + " \n", + " Acidosis resulting from accumulation of ketone bodies.\n", + " definition of HP:0001993 (Ketoacidosis)\n", + " \n", + " \n", + " Hypoplastic dermoepidermal hemidesmosomes\n", + " definition of HP:0020117 (Hypoplastic dermoepidermal hemidesmosomes)\n", + " \n", + " \n", + " Underdeveloped hemidesmosomes at the dermoepidermal junction. Hemidesmosomes are the specialized junctional complexes, that contribute to the attachment of epithelial cells to the underlying basement membrane in stratified and other complex epithelia, such as the skin.\n", + " definition of HP:0020117 (Hypoplastic dermoepidermal hemidesmosomes)\n", + " \n", + " \n", + " Abnormality of the vertebral spinous processes\n", + " definition of HP:0008516 (Abnormality of the vertebral spinous processes)\n", + " \n", + " \n", + " Malposition of the stomach\n", + " definition of HP:0100802 (Malposition of the stomach)\n", + " \n", + " \n", + " Abnormal anatomical location of the stomach. This feature may be due to intestinal malrotation.\n", + " definition of HP:0100802 (Malposition of the stomach)\n", + " \n", + " \n", + " #Abnormal stomach location #Gastric ectopia #Gastric malposition\n", + " definition of HP:0100802 (Malposition of the stomach)\n", + " \n", + " \n", + " Anencephaly\n", + " definition of HP:0002323 (Anencephaly)\n", + " \n", + " \n", + " Anencephaly is a developmental anomaly characterized by a fetus that has no calvarium, with a lack of most or all of the fetus' brain tissue. Anencephaly belongs to a collective group known as neural tube defects (NTD) and is a result of the neural tube failing to close in its rostral end during fetal development.\n", + " definition of HP:0002323 (Anencephaly)\n", + " \n", + " \n", + " #Embryonic anencephaly #Fetal anencephaly #Foetal anencephaly\n", + " definition of HP:0002323 (Anencephaly)\n", + " \n", + " \n", + " Unsteady gait\n", + " definition of HP:0002317 (Unsteady gait)\n", + " \n", + " \n", + " #Gait instability #Unsteady walk\n", + " definition of HP:0002317 (Unsteady gait)\n", + " \n", + " \n", + " Nausea and vomiting\n", + " definition of HP:0002017 (Nausea and vomiting)\n", + " \n", + " \n", + " Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea.\n", + " definition of HP:0002017 (Nausea and vomiting)\n", + " \n", + " \n", + " #Nausea and vomiting\n", + " definition of HP:0002017 (Nausea and vomiting)\n", + " \n", + " \n", + " Seizure precipitated by febrile infection\n", + " definition of HP:0032894 (Seizure precipitated by febrile infection)\n", + " \n", + " \n", + " Any form of seizure occurring at the time of a fever (temperature at or above 38.0 degrees Celcius) without infection of the central nervous system, and without an alternative cause such as severe metabolic derangement, occurring at any age.\n", + " definition of HP:0032894 (Seizure precipitated by febrile infection)\n", + " \n", + " \n", + " #Fever induced seizure\n", + " definition of HP:0032894 (Seizure precipitated by febrile infection)\n", + " \n", + " \n", + " Cold-induced muscle cramps\n", + " definition of HP:0003449 (Cold-induced muscle cramps)\n", + " \n", + " \n", + " Sudden and involuntary contractions of one or more muscles brought on by exposure to cold temperatures.\n", + " definition of HP:0003449 (Cold-induced muscle cramps)\n", + " \n", + " \n", + " Renal cell carcinoma\n", + " definition of HP:0005584 (Renal cell carcinoma)\n", + " \n", + " \n", + " A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule.\n", + " definition of HP:0005584 (Renal cell carcinoma)\n", + " \n", + " \n", + " #Cancer starting in small tubes in kidneys #Hypernephroma #Renal carcinoma\n", + " definition of HP:0005584 (Renal cell carcinoma)\n", + " \n", + " \n", + " Nail bed hemorrhage\n", + " definition of HP:0030254 (Nail bed hemorrhage)\n", + " \n", + " \n", + " Small areas of bleeding (hemorrhage) under the fingernail or toenail.\n", + " definition of HP:0030254 (Nail bed hemorrhage)\n", + " \n", + " \n", + " #Nail bed haemorrhage\n", + " definition of HP:0030254 (Nail bed hemorrhage)\n", + " \n", + " \n", + " Class II obesity\n", + " definition of HP:0025500 (Class II obesity)\n", + " \n", + " \n", + " Obesity with a body mass index of 35 to 39.9 kg per square meter.\n", + " definition of HP:0025500 (Class II obesity)\n", + " \n", + " \n", + " #Obesity grade 2\n", + " definition of HP:0025500 (Class II obesity)\n", + " \n", + " \n", + " Entrapment neuropathy of the ulnar nerve at elbow\n", + " definition of HP:0012186 (Entrapment neuropathy of the ulnar nerve at elbow)\n", + " \n", + " \n", + " An entrapment neuropathy of the ulnar nerve in the cubital tunnel (in the elbow) characterized by numbness in the ring and little fingers and weakness of the intrinsic muscles in the hand.\n", + " definition of HP:0012186 (Entrapment neuropathy of the ulnar nerve at elbow)\n", + " \n", + " \n", + " #Cubital tunnel syndrome\n", + " definition of HP:0012186 (Entrapment neuropathy of the ulnar nerve at elbow)\n", + " \n", + " \n", + " Solitary median maxillary central incisor\n", + " definition of HP:0006315 (Solitary median maxillary central incisor)\n", + " \n", + " \n", + " A single maxillary central incisor positioned in the midline with morphological symmetry of the crown and bordered by lateral incisors.\n", + " definition of HP:0006315 (Solitary median maxillary central incisor)\n", + " \n", + " \n", + " #Only one upper front tooth #Single central incisor #Single central upper incisor #Single maxillary central incisor #Single median incisor #Single median maxillary incisor #Single midline maxillary incisor #Single midline upper front tooth #Solitary median maxillary central incisor #Solitary midline maxillary central incisor\n", + " definition of HP:0006315 (Solitary median maxillary central incisor)\n", + " \n", + " \n", + " Urinary bladder mass\n", + " definition of HP:0034968 (Urinary bladder mass)\n", + " \n", + " \n", + " A swelling or enlargement localized to the urinary bladder. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.\n", + " definition of HP:0034968 (Urinary bladder mass)\n", + " \n", + " \n", + " Abnormality of the parathyroid physiology\n", + " definition of HP:0011767 (Abnormality of the parathyroid physiology)\n", + " \n", + " \n", + " A functional abnormality of the parathyroid gland.\n", + " definition of HP:0011767 (Abnormality of the parathyroid physiology)\n", + " \n", + " \n", + " #Parathyroid dysfunction\n", + " definition of HP:0011767 (Abnormality of the parathyroid physiology)\n", + " \n", + " \n", + " Impaired hepatobiliary scintigraphy tracer uptake\n", + " definition of HP:6000930 (Impaired hepatobiliary scintigraphy tracer uptake)\n", + " \n", + " \n", + " An abnormal reduction in the amount of radioactive tracer uptake upon hepatobiliary scintigraphy.\n", + " definition of HP:6000930 (Impaired hepatobiliary scintigraphy tracer uptake)\n", + " \n", + " \n", + " Vulvar abscess\n", + " definition of HP:0033587 (Vulvar abscess)\n", + " \n", + " \n", + " A circumscribed area of pus or necrotic debris in the vulvar region.\n", + " definition of HP:0033587 (Vulvar abscess)\n", + " \n", + " \n", + " Dilation of Virchow-Robin spaces\n", + " definition of HP:0012520 (Dilation of Virchow-Robin spaces)\n", + " \n", + " \n", + " Increased dimensions of the Virchow-Robin spaces (also known as perivascular spaces), which surround the walls of vessels as they course from the subarachnoid space through the brain parenchyma. Perivascular spaces are commonly microscopic, and not visible on conventional neuroimaging. This term refers to an increase of size of these spaces such that they are visible on neuroimaging (usually magnetic resonance imaging). The dilatations are regular cavities that always contain a patent artery.\n", + " definition of HP:0012520 (Dilation of Virchow-Robin spaces)\n", + " \n", + " \n", + " #Dilated Virchow-Robin spaces #Perivascular spaces\n", + " definition of HP:0012520 (Dilation of Virchow-Robin spaces)\n", + " \n", + " \n", + " NREM parasomnia\n", + " definition of HP:0025235 (NREM parasomnia)\n", + " \n", + " \n", + " A parasomnia that occurs during non-rapid eye movement (NREM) sleep.\n", + " definition of HP:0025235 (NREM parasomnia)\n", + " \n", + " \n", + " #Disturbance in NREM #Non-rapid eye movement parasomnia #NREM parasomnia\n", + " definition of HP:0025235 (NREM parasomnia)\n", + " \n", + " \n", + " Nephrolithiasis\n", + " definition of HP:0000787 (Nephrolithiasis)\n", + " \n", + " \n", + " The presence of calculi (stones) in the kidneys.\n", + " definition of HP:0000787 (Nephrolithiasis)\n", + " \n", + " \n", + " #Kidney stones #Renal calculi #Renal stones\n", + " definition of HP:0000787 (Nephrolithiasis)\n", + " \n", + " \n", + " Short N2 sleep\n", + " definition of HP:5200307 (Short N2 sleep)\n", + " \n", + " \n", + " Decreased duration of phase N2 of nonrapid eye movement (NREM) sleep.\n", + " definition of HP:5200307 (Short N2 sleep)\n", + " \n", + " \n", + " #Short subdued state of NREM\n", + " definition of HP:5200307 (Short N2 sleep)\n", + " \n", + " \n", + " Primary adrenal insufficiency\n", + " definition of HP:0008207 (Primary adrenal insufficiency)\n", + " \n", + " \n", + " Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves.\n", + " definition of HP:0008207 (Primary adrenal insufficiency)\n", + " \n", + " \n", + " #Adrenocortical insufficiency #Primary adrenocortical failure\n", + " definition of HP:0008207 (Primary adrenal insufficiency)\n", + " \n", + " \n", + " Triangular epiphysis of the 1st metacarpal\n", + " definition of HP:0010025 (Triangular epiphysis of the 1st metacarpal)\n", + " \n", + " \n", + " #Triangular end part of the 1st long bone of hand\n", + " definition of HP:0010025 (Triangular epiphysis of the 1st metacarpal)\n", + " \n", + " \n", + " Anomaly of lower limb diaphyses\n", + " definition of HP:0012699 (Anomaly of lower limb diaphyses)\n", + " \n", + " \n", + " A structural abnormality of a diaphysis of the leg.\n", + " definition of HP:0012699 (Anomaly of lower limb diaphyses)\n", + " \n", + " \n", + " #Anomaly of shaft of long bone of lower limb\n", + " definition of HP:0012699 (Anomaly of lower limb diaphyses)\n", + " \n", + " \n", + " Orange urine\n", + " definition of HP:0032002 (Orange urine)\n", + " \n", + " \n", + " An abnormal orange color of urine.\n", + " definition of HP:0032002 (Orange urine)\n", + " \n", + " \n", + " Apneic episodes precipitated by illness, fatigue, stress\n", + " definition of HP:0002872 (Apneic episodes precipitated by illness, fatigue, stress)\n", + " \n", + " \n", + " Recurrent episodes of apnea that are precipitated by factors such as illness, fatigue, or stress.\n", + " definition of HP:0002872 (Apneic episodes precipitated by illness, fatigue, stress)\n", + " \n", + " \n", + " #Episodic apnea induced by febrile illness or stress\n", + " definition of HP:0002872 (Apneic episodes precipitated by illness, fatigue, stress)\n", + " \n", + " \n", + " Abnormality of the voice\n", + " definition of HP:0001608 (Abnormality of the voice)\n", + " \n", + " \n", + " #Abnormality of the voice #Voice abnormality\n", + " definition of HP:0001608 (Abnormality of the voice)\n", + " \n", + " \n", + " Melorheostosis\n", + " definition of HP:6000817 (Melorheostosis)\n", + " \n", + " \n", + " Regions of sclerosing hyperostosis in the cortex of long bones, which might have a radiologic appearance of dripping candle wax.\n", + " definition of HP:6000817 (Melorheostosis)\n", + " \n", + " \n", + " Increased head circumference\n", + " definition of HP:0040194 (Increased head circumference)\n", + " \n", + " \n", + " An abnormally increased head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart.\n", + " definition of HP:0040194 (Increased head circumference)\n", + " \n", + " \n", + " #Increased head circumference\n", + " definition of HP:0040194 (Increased head circumference)\n", + " \n", + " \n", + " Fibular aplasia\n", + " definition of HP:0002990 (Fibular aplasia)\n", + " \n", + " \n", + " Absence of the fibula.\n", + " definition of HP:0002990 (Fibular aplasia)\n", + " \n", + " \n", + " #Absent calf bone #Absent fibulae #Absent-hypoplastic fibulae\n", + " definition of HP:0002990 (Fibular aplasia)\n", + " \n", + " \n", + " Abnormality of the epiphyses of the 5th toe\n", + " definition of HP:0010341 (Abnormality of the epiphyses of the 5th toe)\n", + " \n", + " \n", + " #Abnormality of the end part of the little toe bone #Abnormality of the end part of the pinkie toe bone #Abnormality of the end part of the pinky toe bone\n", + " definition of HP:0010341 (Abnormality of the epiphyses of the 5th toe)\n", + " \n", + " \n", + " Latex allergy\n", + " definition of HP:0500094 (Latex allergy)\n", + " \n", + " \n", + " Latex allergy is an IgE-mediated immediate hypersensitivity response to natural rubber latex (NRL) protein with a variety of clinical signs ranging from contact urticaria, angioedema, asthma, and anaphylaxis.\n", + " definition of HP:0500094 (Latex allergy)\n", + " \n", + " \n", + " Absent left sided atrioventricular connection\n", + " definition of HP:0011547 (Absent left sided atrioventricular connection)\n", + " \n", + " \n", + " A defect where there is no connection between the left atrium and left ventricle.\n", + " definition of HP:0011547 (Absent left sided atrioventricular connection)\n", + " \n", + " \n", + " #Absent left sided atrioventricular connexion\n", + " definition of HP:0011547 (Absent left sided atrioventricular connection)\n", + " \n", + " \n", + " Peripheral retinal degeneration\n", + " definition of HP:0007769 (Peripheral retinal degeneration)\n", + " \n", + " \n", + " Stippling of the epiphysis of the distal phalanx of the 3rd toe\n", + " definition of HP:0100144 (Stippling of the epiphysis of the distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the 3rd toe.\n", + " definition of HP:0100144 (Stippling of the epiphysis of the distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Speckled calcifications in the end part of the outermost bone of the 3rd toe\n", + " definition of HP:0100144 (Stippling of the epiphysis of the distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Nasopharyngeal teratoma\n", + " definition of HP:0031227 (Nasopharyngeal teratoma)\n", + " \n", + " \n", + " A teratoma arising in the nasopharyngeal region.\n", + " definition of HP:0031227 (Nasopharyngeal teratoma)\n", + " \n", + " \n", + " Solid pulmonary nodule\n", + " definition of HP:0033609 (Solid pulmonary nodule)\n", + " \n", + " \n", + " A type of pulmonary nodule whose density obscures the underlying parenchyma and thus has a \\"solid\\" appearance.\n", + " definition of HP:0033609 (Solid pulmonary nodule)\n", + " \n", + " \n", + " Partial duplication of the distal phalanx of the 2nd toe\n", + " definition of HP:0010425 (Partial duplication of the distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Partial duplication of the distal phalanx of second toe.\n", + " definition of HP:0010425 (Partial duplication of the distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Partial duplication of the outermost bone of the 2nd toe\n", + " definition of HP:0010425 (Partial duplication of the distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Increased circulating interleukin 6 concentration\n", + " definition of HP:0030783 (Increased circulating interleukin 6 concentration)\n", + " \n", + " \n", + " The concentration of interleukin-6 in the blood circulation is above the upper limit of normal.\n", + " definition of HP:0030783 (Increased circulating interleukin 6 concentration)\n", + " \n", + " \n", + " #Increased serum IL-6 #Increased serum interleukin-6\n", + " definition of HP:0030783 (Increased circulating interleukin 6 concentration)\n", + " \n", + " \n", + " Occult macular dystrophy\n", + " definition of HP:0030636 (Occult macular dystrophy)\n", + " \n", + " \n", + " Occult macular dystrophy is a, typically hereditary, abnormality of the macula associated with progressive foveal cone dysfunction and no apparent fundoscopic, full-field electroretinogram (ERG), or fluorescein angiogram abnormalities.\n", + " definition of HP:0030636 (Occult macular dystrophy)\n", + " \n", + " \n", + " Abnormal CSF neopterin concentration\n", + " definition of HP:0040203 (Abnormal CSF neopterin concentration)\n", + " \n", + " \n", + " Abnormal concentration of neopterin in the cerebrospinal fluid (CSF).\n", + " definition of HP:0040203 (Abnormal CSF neopterin concentration)\n", + " \n", + " \n", + " #Abnormal CSF neopterin level\n", + " definition of HP:0040203 (Abnormal CSF neopterin concentration)\n", + " \n", + " \n", + " Family history of heart disease\n", + " definition of HP:0032318 (Family history of heart disease)\n", + " \n", + " \n", + " A close blood relative had heart disease.\n", + " definition of HP:0032318 (Family history of heart disease)\n", + " \n", + " \n", + " Thin metacarpal cortices\n", + " definition of HP:0006086 (Thin metacarpal cortices)\n", + " \n", + " \n", + " Short forearm\n", + " definition of HP:0005773 (Short forearm)\n", + " \n", + " \n", + " Underdevelopment of both forearm bones, the ulna and the radius, resulting in a shortened forearm.\n", + " definition of HP:0005773 (Short forearm)\n", + " \n", + " \n", + " #Hypoplasia of both radius and ulna #Short forearm\n", + " definition of HP:0005773 (Short forearm)\n", + " \n", + " \n", + " Elevated urinary pyrroline hydroxycarboxylic acid level\n", + " definition of HP:6000620 (Elevated urinary pyrroline hydroxycarboxylic acid level)\n", + " \n", + " \n", + " The amount of pyrroline hydroxycarboxylic acid in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000620 (Elevated urinary pyrroline hydroxycarboxylic acid level)\n", + " \n", + " \n", + " #Elevated urinary 3-hydroxy-L-1-pyrroline-5-carboxylate level #Elevated urine L-delta1-pyrroline 3-hydroxy-5-carboxylate level\n", + " definition of HP:6000620 (Elevated urinary pyrroline hydroxycarboxylic acid level)\n", + " \n", + " \n", + " Hypotryptophanemia\n", + " definition of HP:0500135 (Hypotryptophanemia)\n", + " \n", + " \n", + " A decreased amount of tryptophan in the blood.\n", + " definition of HP:0500135 (Hypotryptophanemia)\n", + " \n", + " \n", + " #Decreased tryptophan in blood #Low blood tryptophan concentration\n", + " definition of HP:0500135 (Hypotryptophanemia)\n", + " \n", + " \n", + " Allantoic cyst\n", + " definition of HP:0030754 (Allantoic cyst)\n", + " \n", + " \n", + " A swelling formed at the base of umbilicus associated with a patent urachus which results from an allantoic remnant. The urachus is a fibrous remnant of the allantois which communicates from the apex of the urinary bladder to the umbilicus. Failed obliteration of the urachus can lead to various abnormalities: urachal cyst, urachal diverticulum, sinus or patent urachus - the most common type. Allantoic cysts in infants with patent urachus can be formed due to the drainage of urine into the umbilical cord, or in uncommon situations, after leakage of hypo-osmotic urine into the Wharton's jelly.\n", + " definition of HP:0030754 (Allantoic cyst)\n", + " \n", + " \n", + " Abnormal head movements\n", + " definition of HP:0002457 (Abnormal head movements)\n", + " \n", + " \n", + " #Abnormal head movements\n", + " definition of HP:0002457 (Abnormal head movements)\n", + " \n", + " \n", + " Broad-based gait\n", + " definition of HP:0002136 (Broad-based gait)\n", + " \n", + " \n", + " An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia.\n", + " definition of HP:0002136 (Broad-based gait)\n", + " \n", + " \n", + " #Broad based gait #Wide based gait #Wide based walk #Wide-based gait\n", + " definition of HP:0002136 (Broad-based gait)\n", + " \n", + " \n", + " Dense calvaria\n", + " definition of HP:0000250 (Dense calvaria)\n", + " \n", + " \n", + " An abnormal increase of density of the bones making up the calvaria.\n", + " definition of HP:0000250 (Dense calvaria)\n", + " \n", + " \n", + " #Dense skull cap\n", + " definition of HP:0000250 (Dense calvaria)\n", + " \n", + " \n", + " Pneumomediastinum\n", + " definition of HP:0025421 (Pneumomediastinum)\n", + " \n", + " \n", + " The presence of free air in the mediastinum.\n", + " definition of HP:0025421 (Pneumomediastinum)\n", + " \n", + " \n", + " Abnormal ossification of the trapezium\n", + " definition of HP:0045001 (Abnormal ossification of the trapezium)\n", + " \n", + " \n", + " Right aortic arch with retroesophageal left subclavian artery\n", + " definition of HP:0011598 (Right aortic arch with retroesophageal left subclavian artery)\n", + " \n", + " \n", + " #Right aortic arch with aberrant left subclavian artery #Right aortic arch with anomalous left subclavian artery\n", + " definition of HP:0011598 (Right aortic arch with retroesophageal left subclavian artery)\n", + " \n", + " \n", + " Focal sub-RPE deposits\n", + " definition of HP:0031532 (Focal sub-RPE deposits)\n", + " \n", + " \n", + " Deposits accumulating between the retinal pigment epithelium and Bruch's membrane and that are distributed in a single focus.\n", + " definition of HP:0031532 (Focal sub-RPE deposits)\n", + " \n", + " \n", + " Shoulder localization\n", + " definition of HP:6000163 (Shoulder localization)\n", + " \n", + " \n", + " Applies to an abnormality that is situated in (or predominant in) the shoulder.\n", + " definition of HP:6000163 (Shoulder localization)\n", + " \n", + " \n", + " Symphalangism affecting the proximal phalanges of the hand\n", + " definition of HP:0009857 (Symphalangism affecting the proximal phalanges of the hand)\n", + " \n", + " \n", + " #Fused innermost hand bones\n", + " definition of HP:0009857 (Symphalangism affecting the proximal phalanges of the hand)\n", + " \n", + " \n", + " Brachyturricephaly\n", + " definition of HP:0000244 (Brachyturricephaly)\n", + " \n", + " \n", + " Abnormal vertical height of the skull and a shortening of its anterior-posterior length, frequently combined with malformations of the occipital region.\n", + " definition of HP:0000244 (Brachyturricephaly)\n", + " \n", + " \n", + " #Brachy-turricephaly #High, prominent forehead #Turribrachycephaly\n", + " definition of HP:0000244 (Brachyturricephaly)\n", + " \n", + " \n", + " Massively thickened long bone cortices\n", + " definition of HP:0005665 (Massively thickened long bone cortices)\n", + " \n", + " \n", + " Extreme thickening of the cortex of long bones.\n", + " definition of HP:0005665 (Massively thickened long bone cortices)\n", + " \n", + " \n", + " Positive mycobacterium CSF microscopy\n", + " definition of HP:6000544 (Positive mycobacterium CSF microscopy)\n", + " \n", + " \n", + " The demonstration of mycobacterium by microscopy of the cerebrospinal fluid (CSF).\n", + " definition of HP:6000544 (Positive mycobacterium CSF microscopy)\n", + " \n", + " \n", + " Abnormal myeloid cell morphology\n", + " definition of HP:0020047 (Abnormal myeloid cell morphology)\n", + " \n", + " \n", + " Any structural anomaly of a cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage.\n", + " definition of HP:0020047 (Abnormal myeloid cell morphology)\n", + " \n", + " \n", + " Hyperhidrosis\n", + " definition of HP:0000975 (Hyperhidrosis)\n", + " \n", + " \n", + " Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.\n", + " definition of HP:0000975 (Hyperhidrosis)\n", + " \n", + " \n", + " #Diaphoresis #Excessive sweating #Increased sweating #Profuse sweating #Sweating #Sweating profusely #Sweating, increased\n", + " definition of HP:0000975 (Hyperhidrosis)\n", + " \n", + " \n", + " Aplasia of the middle ear ossicles\n", + " definition of HP:0009910 (Aplasia of the middle ear ossicles)\n", + " \n", + " \n", + " Absence of the middle ear ossicles, malleus, incus, and stapes.\n", + " definition of HP:0009910 (Aplasia of the middle ear ossicles)\n", + " \n", + " \n", + " #Absent middle ear bones #Absent middle ear ossicles\n", + " definition of HP:0009910 (Aplasia of the middle ear ossicles)\n", + " \n", + " \n", + " Elevated circulating complement C3 concentration\n", + " definition of HP:0430146 (Elevated circulating complement C3 concentration)\n", + " \n", + " \n", + " Concentration of the complement component C3 in the blood circulation above the upper limit of normal.\n", + " definition of HP:0430146 (Elevated circulating complement C3 concentration)\n", + " \n", + " \n", + " Clusters of axonal regeneration\n", + " definition of HP:0007233 (Clusters of axonal regeneration)\n", + " \n", + " \n", + " Groups of small caliber axons in peripheral nerve biospies indicative of axonal regeneration.\n", + " definition of HP:0007233 (Clusters of axonal regeneration)\n", + " \n", + " \n", + " Ganglioneuroma\n", + " definition of HP:0003005 (Ganglioneuroma)\n", + " \n", + " \n", + " A benign neoplasm that usually arises from the sympathetic trunk in the mediastinum, representing a tumor of the sympathetic nerve fibers arising from neural crest cells.\n", + " definition of HP:0003005 (Ganglioneuroma)\n", + " \n", + " \n", + " Abnormal brain FDG positron emission tomography\n", + " definition of HP:0012658 (Abnormal brain FDG positron emission tomography)\n", + " \n", + " \n", + " An anomaly detectable in [18F]-fluorodeoxyglucose (FDG) positron emission tomography (PET) brain scans. Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity.\n", + " definition of HP:0012658 (Abnormal brain FDG positron emission tomography)\n", + " \n", + " \n", + " #Abnormal brain FDG PET scan\n", + " definition of HP:0012658 (Abnormal brain FDG positron emission tomography)\n", + " \n", + " \n", + " Abdominal wall muscle weakness\n", + " definition of HP:0009023 (Abdominal wall muscle weakness)\n", + " \n", + " \n", + " Decreased strength of the abdominal musculature.\n", + " definition of HP:0009023 (Abdominal wall muscle weakness)\n", + " \n", + " \n", + " #Lax abdominal musculature\n", + " definition of HP:0009023 (Abdominal wall muscle weakness)\n", + " \n", + " \n", + " Achromatic retinal patches\n", + " definition of HP:0009727 (Achromatic retinal patches)\n", + " \n", + " \n", + " Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disk diameter in size and tending to be located in the midperiphery of the retina.\n", + " definition of HP:0009727 (Achromatic retinal patches)\n", + " \n", + " \n", + " #Punched out areas of chorioretinal hypopigmentation\n", + " definition of HP:0009727 (Achromatic retinal patches)\n", + " \n", + " \n", + " Hypoplasia of the femoral head\n", + " definition of HP:0008802 (Hypoplasia of the femoral head)\n", + " \n", + " \n", + " Underdevelopment of the femoral head.\n", + " definition of HP:0008802 (Hypoplasia of the femoral head)\n", + " \n", + " \n", + " #Hypoplastic femoral head #Small femoral heads #Small head of thigh bone\n", + " definition of HP:0008802 (Hypoplasia of the femoral head)\n", + " \n", + " \n", + " Abnormal activity of mitochondrial respiratory chain\n", + " definition of HP:0011922 (Abnormal activity of mitochondrial respiratory chain)\n", + " \n", + " \n", + " An increased or decreased activity of the mitochondrial respiratory chain.\n", + " definition of HP:0011922 (Abnormal activity of mitochondrial respiratory chain)\n", + " \n", + " \n", + " Multifocal breast carcinoma\n", + " definition of HP:0006625 (Multifocal breast carcinoma)\n", + " \n", + " \n", + " Breast carcinoma that is bilateral or otherwise multifocal.\n", + " definition of HP:0006625 (Multifocal breast carcinoma)\n", + " \n", + " \n", + " #Multifocal breast cancer\n", + " definition of HP:0006625 (Multifocal breast carcinoma)\n", + " \n", + " \n", + " Cryptophthalmos\n", + " definition of HP:0001126 (Cryptophthalmos)\n", + " \n", + " \n", + " Cryptophthalmos is a condition of total absence of eyelids and the skin of forehead is continuous with that of cheek, in which the eyeball is completely concealed by the skin, which is stretched over the orbital cavity.\n", + " definition of HP:0001126 (Cryptophthalmos)\n", + " \n", + " \n", + " Delayed ability to walk\n", + " definition of HP:0031936 (Delayed ability to walk)\n", + " \n", + " \n", + " A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.\n", + " definition of HP:0031936 (Delayed ability to walk)\n", + " \n", + " \n", + " #Delayed walking\n", + " definition of HP:0031936 (Delayed ability to walk)\n", + " \n", + " \n", + " Fatigable weakness of bulbar muscles\n", + " definition of HP:0030192 (Fatigable weakness of bulbar muscles)\n", + " \n", + " \n", + " A type of weakness of the bulbar muscles (muscles of the mouth and throat responsible for speech and swallowing) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.\n", + " definition of HP:0030192 (Fatigable weakness of bulbar muscles)\n", + " \n", + " \n", + " Right aortic arch with left descending aorta and left ductus arteriosus\n", + " definition of HP:0011597 (Right aortic arch with left descending aorta and left ductus arteriosus)\n", + " \n", + " \n", + " Poorly formed metencephalon\n", + " definition of HP:0007027 (Poorly formed metencephalon)\n", + " \n", + " \n", + " A morphological abnormality of the metencephalon.\n", + " definition of HP:0007027 (Poorly formed metencephalon)\n", + " \n", + " \n", + " Increased circulating interleukin 10 concentration\n", + " definition of HP:0033199 (Increased circulating interleukin 10 concentration)\n", + " \n", + " \n", + " An elevation of the concentration of interleukin 10 in the blood circulation.\n", + " definition of HP:0033199 (Increased circulating interleukin 10 concentration)\n", + " \n", + " \n", + " #Increased serum interleukin 10\n", + " definition of HP:0033199 (Increased circulating interleukin 10 concentration)\n", + " \n", + " \n", + " Dysgenesis of the cerebellar vermis\n", + " definition of HP:0002195 (Dysgenesis of the cerebellar vermis)\n", + " \n", + " \n", + " Defective development of the vermis of cerebellum.\n", + " definition of HP:0002195 (Dysgenesis of the cerebellar vermis)\n", + " \n", + " \n", + " Neoplasm of the heart\n", + " definition of HP:0100544 (Neoplasm of the heart)\n", + " \n", + " \n", + " A tumor (abnormal growth of tissue) of the heart.\n", + " definition of HP:0100544 (Neoplasm of the heart)\n", + " \n", + " \n", + " #Cardiac neoplasm #Heart tumor #Heart tumour\n", + " definition of HP:0100544 (Neoplasm of the heart)\n", + " \n", + " \n", + " Small cell lung carcinoma\n", + " definition of HP:0030357 (Small cell lung carcinoma)\n", + " \n", + " \n", + " Small cell lung cancer (SCLC) is a type of highly malignant lung cancer that is composed of small ovoid cells. In the past, SCLC was called oat cell carcinoma because the microscopic appearance of the cells was felt to resemble oats. SLCLC usually originates near the bronchi and in many cases may grow and metastasize quickly.\n", + " definition of HP:0030357 (Small cell lung carcinoma)\n", + " \n", + " \n", + " #Oat cell carcinoma of lung #Oat cell lung cancer #Small cell lung cancer\n", + " definition of HP:0030357 (Small cell lung carcinoma)\n", + " \n", + " \n", + " Achromatopsia\n", + " definition of HP:0011516 (Achromatopsia)\n", + " \n", + " \n", + " A condition where the retina contains no functional cone cells, so that in addition to the absence of color discrimination, vision in lights of normal intensity is difficult.\n", + " definition of HP:0011516 (Achromatopsia)\n", + " \n", + " \n", + " #Rod monochromacy #Rod monochromatism\n", + " definition of HP:0011516 (Achromatopsia)\n", + " \n", + " \n", + " Status post organ transplantation\n", + " definition of HP:0032444 (Status post organ transplantation)\n", + " \n", + " \n", + " The affected individual has received an organ transplant previous to the current medical encounter.\n", + " definition of HP:0032444 (Status post organ transplantation)\n", + " \n", + " \n", + " #s/p organ transplantation\n", + " definition of HP:0032444 (Status post organ transplantation)\n", + " \n", + " \n", + " Tetany\n", + " definition of HP:0001281 (Tetany)\n", + " \n", + " \n", + " A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency.\n", + " definition of HP:0001281 (Tetany)\n", + " \n", + " \n", + " #Intermittent involuntary muscle spasm\n", + " definition of HP:0001281 (Tetany)\n", + " \n", + " \n", + " Mesangial cell loss\n", + " definition of HP:0033320 (Mesangial cell loss)\n", + " \n", + " \n", + " Loss of mesangial cells segmentally or globally.\n", + " definition of HP:0033320 (Mesangial cell loss)\n", + " \n", + " \n", + " Broad proximal phalanx of the 3rd finger\n", + " definition of HP:0009450 (Broad proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Increased width of the proximal phalanx of the 3rd finger.\n", + " definition of HP:0009450 (Broad proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Broad innermost bone of middle finger\n", + " definition of HP:0009450 (Broad proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Irregular epiphyses of the distal phalanges of the hand\n", + " definition of HP:0010251 (Irregular epiphyses of the distal phalanges of the hand)\n", + " \n", + " \n", + " #Irregular end part of the outermost hand bones\n", + " definition of HP:0010251 (Irregular epiphyses of the distal phalanges of the hand)\n", + " \n", + " \n", + " Iris flocculi\n", + " definition of HP:0500007 (Iris flocculi)\n", + " \n", + " \n", + " Multiple cysts along the pupillary margin that appear as spherical or tear-drop-shaped pigmented lesions or wrinkled masses emerging from the pupillary border of the iris.\n", + " definition of HP:0500007 (Iris flocculi)\n", + " \n", + " \n", + " Decreased level of 1,5 anhydroglucitol in serum\n", + " definition of HP:0410050 (Decreased level of 1,5 anhydroglucitol in serum)\n", + " \n", + " \n", + " A decrease in the level of 1,5 anhydroglucitol in the serum. 1,5-Anhydrosorbitol is a validated marker of short-term glycemic control. This substance is derived mainly from food, is well absorbed in the intestine, and is distributed to all organs and tissues.\n", + " definition of HP:0410050 (Decreased level of 1,5 anhydroglucitol in serum)\n", + " \n", + " \n", + " #Decreased level of 1,5-AG in serum #Decreased level of 1,5-anhydro-D-glucitol in serum #Decreased level of 1,5-anhydroglucitol in serum\n", + " definition of HP:0410050 (Decreased level of 1,5 anhydroglucitol in serum)\n", + " \n", + " \n", + " Triangular shaped phalanges of the 5th finger\n", + " definition of HP:0009378 (Triangular shaped phalanges of the 5th finger)\n", + " \n", + " \n", + " Triangular shaped phalanges of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.\n", + " definition of HP:0009378 (Triangular shaped phalanges of the 5th finger)\n", + " \n", + " \n", + " #Triangular shaped little finger bones #Triangular shaped pinkie finger bones #Triangular shaped pinky finger bones\n", + " definition of HP:0009378 (Triangular shaped phalanges of the 5th finger)\n", + " \n", + " \n", + " EEG with generalized slow activity grade 4\n", + " definition of HP:0011209 (EEG with generalized slow activity grade 4)\n", + " \n", + " \n", + " EEG without electrical activity.\n", + " definition of HP:0011209 (EEG with generalized slow activity grade 4)\n", + " \n", + " \n", + " #EEG with generalised slow activity grade 4 #Flat line EEG\n", + " definition of HP:0011209 (EEG with generalized slow activity grade 4)\n", + " \n", + " \n", + " Elevated circulating alpha-ketoglutarate concentration\n", + " definition of HP:6000435 (Elevated circulating alpha-ketoglutarate concentration)\n", + " \n", + " \n", + " The concentration of alpha-ketoglutarate in the blood circulation is above the upper limit of normal.\n", + " definition of HP:6000435 (Elevated circulating alpha-ketoglutarate concentration)\n", + " \n", + " \n", + " #Alpha-ketoglutarate high in blood\n", + " definition of HP:6000435 (Elevated circulating alpha-ketoglutarate concentration)\n", + " \n", + " \n", + " Shoulder flexion contracture\n", + " definition of HP:0003044 (Shoulder flexion contracture)\n", + " \n", + " \n", + " Chronic reduction in active and passive mobility of the shoulder joint due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.\n", + " definition of HP:0003044 (Shoulder flexion contracture)\n", + " \n", + " \n", + " Intramuscular lipoma\n", + " definition of HP:0034696 (Intramuscular lipoma)\n", + " \n", + " \n", + " A lipoma that is located within a muscle.\n", + " definition of HP:0034696 (Intramuscular lipoma)\n", + " \n", + " \n", + " Limb undergrowth\n", + " definition of HP:0009826 (Limb undergrowth)\n", + " \n", + " \n", + " Limb shortening because of underdevelopment of one or more bones of the extremities.\n", + " definition of HP:0009826 (Limb undergrowth)\n", + " \n", + " \n", + " #Hypoplasia involving bones of the extremities #limb shortening #Limb undergrowth #Short limb #Short limbs\n", + " definition of HP:0009826 (Limb undergrowth)\n", + " \n", + " \n", + " Monomorphic ventricular tachycardia\n", + " definition of HP:0031676 (Monomorphic ventricular tachycardia)\n", + " \n", + " \n", + " A type of ventricular tachycardia that is characterized by uniform QRS complexes within each lead (i.e., each QRS is identical or nearly so).\n", + " definition of HP:0031676 (Monomorphic ventricular tachycardia)\n", + " \n", + " \n", + " Cervical lymphadenopathy\n", + " definition of HP:0025289 (Cervical lymphadenopathy)\n", + " \n", + " \n", + " Enlarged lymph nodes in the neck.\n", + " definition of HP:0025289 (Cervical lymphadenopathy)\n", + " \n", + " \n", + " #Swollen lymph nodes in the neck\n", + " definition of HP:0025289 (Cervical lymphadenopathy)\n", + " \n", + " \n", + " Sclerosis of the middle phalanx of the 2nd finger\n", + " definition of HP:0100904 (Sclerosis of the middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Increased bone density in the middle bone of the index finger\n", + " definition of HP:0100904 (Sclerosis of the middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " Ovarian papillary adenocarcinoma\n", + " definition of HP:0006774 (Ovarian papillary adenocarcinoma)\n", + " \n", + " \n", + " The presence of a papillary adenocarcinoma of the ovary.\n", + " definition of HP:0006774 (Ovarian papillary adenocarcinoma)\n", + " \n", + " \n", + " Ovarian gonadoblastoma\n", + " definition of HP:0000149 (Ovarian gonadoblastoma)\n", + " \n", + " \n", + " The presence of a gonadoblastoma of the ovary.\n", + " definition of HP:0000149 (Ovarian gonadoblastoma)\n", + " \n", + " \n", + " #Gonadoblastoma, female\n", + " definition of HP:0000149 (Ovarian gonadoblastoma)\n", + " \n", + " \n", + " Focal myoclonic seizure\n", + " definition of HP:0011166 (Focal myoclonic seizure)\n", + " \n", + " \n", + " A type of focal motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.\n", + " definition of HP:0011166 (Focal myoclonic seizure)\n", + " \n", + " \n", + " #Focal myoclonic seizures #Local myoclonic seizures #Localised myoclonic seizure #Localized myoclonic seizure #Partial myoclonic seizure #Partial myoclonic seizures #Segmental myoclonic seizure #Segmental myoclonic seizures\n", + " definition of HP:0011166 (Focal myoclonic seizure)\n", + " \n", + " \n", + " Palmar neurofibroma\n", + " definition of HP:0007576 (Palmar neurofibroma)\n", + " \n", + " \n", + " A neurofibroma (benign peripheral nerve sheath tumor) localized in the palm of the hand.\n", + " definition of HP:0007576 (Palmar neurofibroma)\n", + " \n", + " \n", + " #Palmar neurofibromas\n", + " definition of HP:0007576 (Palmar neurofibroma)\n", + " \n", + " \n", + " Craniofacial dystonia\n", + " definition of HP:0012179 (Craniofacial dystonia)\n", + " \n", + " \n", + " A form of focal dystonia affecting the face and especially the jaw that is induced by the act of speaking. It is an involuntary contraction of the masticatory muscles, resulting in dysarthria or dysphagia.\n", + " definition of HP:0012179 (Craniofacial dystonia)\n", + " \n", + " \n", + " #Abnormal craniofacial muscle tone\n", + " definition of HP:0012179 (Craniofacial dystonia)\n", + " \n", + " \n", + " Patellar hypoplasia\n", + " definition of HP:0003065 (Patellar hypoplasia)\n", + " \n", + " \n", + " Underdevelopment of the patella.\n", + " definition of HP:0003065 (Patellar hypoplasia)\n", + " \n", + " \n", + " #Hypoplastic patellae #Small kneecap #Small patella #Small patellae #Underdeveloped kneecap\n", + " definition of HP:0003065 (Patellar hypoplasia)\n", + " \n", + " \n", + " Civatte bodies\n", + " definition of HP:0025115 (Civatte bodies)\n", + " \n", + " \n", + " Eosinophilic hyaline ovoid bodies which are often found in the subepidermal papillary regions or sometimes in the epidermis. Civatte bodies (CBs) are seen as rounded, homogenous, eosinophilic masses on routine H and E staining lying in the deeper parts of epidermis/epithelium and more frequently in dermis/connective tissue. They are known as CBs (in epithelium/epidermis), colloid bodies, or hyaline bodies (in connective tissue). They are 10-25 micrometers in diameter and situated mostly within or above the inflammatory cell infiltrate. In lichen planus, the number of necrotic keratinocytes may be so large that they are seen lying in clusters in the uppermost dermis. These bodies show a positive periodic acid Schiff reaction and are diastase resistant\n", + " definition of HP:0025115 (Civatte bodies)\n", + " \n", + " \n", + " #Colloid bodies #Colloid bodies of Civatte #Cytoid bodies #Hyaline bodies\n", + " definition of HP:0025115 (Civatte bodies)\n", + " \n", + " \n", + " Fallopian tube cyst\n", + " definition of HP:0012883 (Fallopian tube cyst)\n", + " \n", + " \n", + " A fluid filled sac located in the Fallopian tube.\n", + " definition of HP:0012883 (Fallopian tube cyst)\n", + " \n", + " \n", + " Glomerular endocapillary leukocyte hypercellularity\n", + " definition of HP:0033488 (Glomerular endocapillary leukocyte hypercellularity)\n", + " \n", + " \n", + " Increased number of leukocytes internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries.\n", + " definition of HP:0033488 (Glomerular endocapillary leukocyte hypercellularity)\n", + " \n", + " \n", + " #Glomerular endocapillary hypercellularity consisting of leukocytes\n", + " definition of HP:0033488 (Glomerular endocapillary leukocyte hypercellularity)\n", + " \n", + " \n", + " Anti-rubella antibody positivity\n", + " definition of HP:0430086 (Anti-rubella antibody positivity)\n", + " \n", + " \n", + " The presence of antibodies in the blood circulation that react against a component of rubella virus.\n", + " definition of HP:0430086 (Anti-rubella antibody positivity)\n", + " \n", + " \n", + " #Rubella antibody titer high in blood\n", + " definition of HP:0430086 (Anti-rubella antibody positivity)\n", + " \n", + " \n", + " Punctate periventricular T2 hyperintense foci\n", + " definition of HP:0030081 (Punctate periventricular T2 hyperintense foci)\n", + " \n", + " \n", + " Multiple pointlike areas of high T2 signal observed upon magnetic resonance imaging of the periventricular cerebral white matter.\n", + " definition of HP:0030081 (Punctate periventricular T2 hyperintense foci)\n", + " \n", + " \n", + " Avascular necrosis of the capital femoral epiphysis\n", + " definition of HP:0005743 (Avascular necrosis of the capital femoral epiphysis)\n", + " \n", + " \n", + " Avascular necrosis of the proximal epiphysis of the femur occurring in growing children and caused by an interruption of the blood supply to the head of the femur close to the hip joint. The necrosis is characteristically associated with flattening of the femoral head, for which reason the term coxa plana has been used to refer to this feature in the medical literature.\n", + " definition of HP:0005743 (Avascular necrosis of the capital femoral epiphysis)\n", + " \n", + " \n", + " #Osteochondrosis of the femoral head #Osteonecrosis of the femoral head #Perthes-like femoral head changes\n", + " definition of HP:0005743 (Avascular necrosis of the capital femoral epiphysis)\n", + " \n", + " \n", + " Primary central nervous system lymphoma\n", + " definition of HP:0030069 (Primary central nervous system lymphoma)\n", + " \n", + " \n", + " A form of extranodal, high-grade non-Hodgkin B-cell neoplasm, usually large cell or immunoblastic type that originates in the brain, leptomeninges, spinal cord, or eyes and typically remains confined to the CNS.\n", + " definition of HP:0030069 (Primary central nervous system lymphoma)\n", + " \n", + " \n", + " #Primary CNS lymphoma\n", + " definition of HP:0030069 (Primary central nervous system lymphoma)\n", + " \n", + " \n", + " Tessier cleft\n", + " definition of HP:0002006 (Tessier cleft)\n", + " \n", + " \n", + " A congenital malformation with a cleft (gap or opening) in the face.\n", + " definition of HP:0002006 (Tessier cleft)\n", + " \n", + " \n", + " #Cleft of the face #Facial cleft #Tessier facial cleft\n", + " definition of HP:0002006 (Tessier cleft)\n", + " \n", + " \n", + " Bicuspid aortic valve\n", + " definition of HP:0001647 (Bicuspid aortic valve)\n", + " \n", + " \n", + " The presence of an aortic valve with two instead of the normal three cusps (flaps). Bicuspid aortic valvue is a malformation of a commissure (small space between the attachment of each cusp to the aortic wall) and the adjacent parts of the two corresponding cusps forming a raphe (the fused area of the two underdeveloped cusps turning into a malformed commissure between both cusps; the raphe is a fibrous ridge that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps).\n", + " definition of HP:0001647 (Bicuspid aortic valve)\n", + " \n", + " \n", + " #Aortic valve has two leaflets rather than three\n", + " definition of HP:0001647 (Bicuspid aortic valve)\n", + " \n", + " \n", + " Abnormal circulating adrenocorticotropin concentration\n", + " definition of HP:0011043 (Abnormal circulating adrenocorticotropin concentration)\n", + " \n", + " \n", + " An abnormal concentration of corticotropin in the blood.\n", + " definition of HP:0011043 (Abnormal circulating adrenocorticotropin concentration)\n", + " \n", + " \n", + " #Abnormality of circulating corticotropin level\n", + " definition of HP:0011043 (Abnormal circulating adrenocorticotropin concentration)\n", + " \n", + " \n", + " Acute esophageal necrosis\n", + " definition of HP:0011128 (Acute esophageal necrosis)\n", + " \n", + " \n", + " A condition characterized by necrosis of the mucosal and submucosal layers of the esophagus not related to ingestion of caustic or other injurious agents. Endoscopically, there is a dark lesion ('black esophagus') distributed in a circumferential manner in the distal one-third of the esophagus with or without exudates. There is involvement of the distal esophagus ending sharply at the gastroesophageal junction.\n", + " definition of HP:0011128 (Acute esophageal necrosis)\n", + " \n", + " \n", + " Osteolytic defects of the proximal phalanx of the 5th finger\n", + " definition of HP:0009230 (Osteolytic defects of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " Dissolution or degeneration of bone tissue of the proximal phalanx of the 5th finger.\n", + " definition of HP:0009230 (Osteolytic defects of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " Ph-positive acute lymphoblastic leukemia\n", + " definition of HP:0004848 (Ph-positive acute lymphoblastic leukemia)\n", + " \n", + " \n", + " A subset of acute lymphoblastic leukemia that results from a reciprocal translocation between the ABL-1 oncogene and a breakpoint cluster region (BCR), resulting in a fusion gene, BCR-ABL, that encodes an oncogenic protein with constitutively active tyrosine kinase activity.\n", + " definition of HP:0004848 (Ph-positive acute lymphoblastic leukemia)\n", + " \n", + " \n", + " #Ph-positive acute lymphoblastic leukaemia #Philadelphia-positive acute lymphoblastic leukaemia #Philadelphia-positive acute lymphoblastic leukemia\n", + " definition of HP:0004848 (Ph-positive acute lymphoblastic leukemia)\n", + " \n", + " \n", + " Decreased circulating sialic acid concentration\n", + " definition of HP:0034938 (Decreased circulating sialic acid concentration)\n", + " \n", + " \n", + " Concentration of sialic acid in the blood circulation below the lower limit of normal.\n", + " definition of HP:0034938 (Decreased circulating sialic acid concentration)\n", + " \n", + " \n", + " Addictive cocaine use\n", + " definition of HP:0033513 (Addictive cocaine use)\n", + " \n", + " \n", + " Addiction to cocaine.\n", + " definition of HP:0033513 (Addictive cocaine use)\n", + " \n", + " \n", + " #Cocaine addiction #Cocaine dependence\n", + " definition of HP:0033513 (Addictive cocaine use)\n", + " \n", + " \n", + " Generalized microdontia\n", + " definition of HP:0006311 (Generalized microdontia)\n", + " \n", + " \n", + " A generalized form of microdontia.\n", + " definition of HP:0006311 (Generalized microdontia)\n", + " \n", + " \n", + " #Decreased tooth mass #Decreased width of all teeth #Generalised microdontia\n", + " definition of HP:0006311 (Generalized microdontia)\n", + " \n", + " \n", + " Malignant rhabdoid tumor of the bladder\n", + " definition of HP:0034560 (Malignant rhabdoid tumor of the bladder)\n", + " \n", + " \n", + " A rhabdoid tumor (a rare aggressive malignancies in infants and young children with a poor prognosis) originating in the urinary bladder.\n", + " definition of HP:0034560 (Malignant rhabdoid tumor of the bladder)\n", + " \n", + " \n", + " Long uvula\n", + " definition of HP:0010810 (Long uvula)\n", + " \n", + " \n", + " Increased length of the uvula.\n", + " definition of HP:0010810 (Long uvula)\n", + " \n", + " \n", + " #Long palatine uvula\n", + " definition of HP:0010810 (Long uvula)\n", + " \n", + " \n", + " Seborrheic keratosis\n", + " definition of HP:0031287 (Seborrheic keratosis)\n", + " \n", + " \n", + " A raised growth on the skin of older individuals. The lesion usually is initially light tan and may darken to dark brown or nearly black. The consistent feature of seborrheic keratoses is their waxy, pasted-on or stuck-on look.\n", + " definition of HP:0031287 (Seborrheic keratosis)\n", + " \n", + " \n", + " #Basal cell papilloma #Seborrheic verruca #Senile wart\n", + " definition of HP:0031287 (Seborrheic keratosis)\n", + " \n", + " \n", + " Hypergalactosemia\n", + " definition of HP:0012024 (Hypergalactosemia)\n", + " \n", + " \n", + " Elevated concentration of galactose in the blood.\n", + " definition of HP:0012024 (Hypergalactosemia)\n", + " \n", + " \n", + " Absent humerus\n", + " definition of HP:0003862 (Absent humerus)\n", + " \n", + " \n", + " Missing humerus bone associated with congenital failure of development.\n", + " definition of HP:0003862 (Absent humerus)\n", + " \n", + " \n", + " #Absent long bone in upper arm #Aplasia of the humerus #Aplastic humerus\n", + " definition of HP:0003862 (Absent humerus)\n", + " \n", + " \n", + " Unilateral ulnar hypoplasia\n", + " definition of HP:0005036 (Unilateral ulnar hypoplasia)\n", + " \n", + " \n", + " Underdevelopment of the ulna on only one side.\n", + " definition of HP:0005036 (Unilateral ulnar hypoplasia)\n", + " \n", + " \n", + " Distal amyotrophy\n", + " definition of HP:0003693 (Distal amyotrophy)\n", + " \n", + " \n", + " Muscular atrophy affecting muscles in the distal portions of the extremities.\n", + " definition of HP:0003693 (Distal amyotrophy)\n", + " \n", + " \n", + " #Amyotrophy of distal limb muscles #Distal amyotrophy, especially of the hands and feet #Distal limb muscle atrophy #Distal muscle atrophy #Distal muscle atrophy, upper and lower limbs #Distal muscle degeneration #Distal muscle wasting #Distal muscular atrophy #Muscle atrophy, distal\n", + " definition of HP:0003693 (Distal amyotrophy)\n", + " \n", + " \n", + " Elevated total serum tryptase\n", + " definition of HP:0031901 (Elevated total serum tryptase)\n", + " \n", + " \n", + " An abnormally elevated concentration of total tryptase (alpha and beta tryptase) in the blood circulation.\n", + " definition of HP:0031901 (Elevated total serum tryptase)\n", + " \n", + " \n", + " Conotruncal defect\n", + " definition of HP:0001710 (Conotruncal defect)\n", + " \n", + " \n", + " A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle.\n", + " definition of HP:0001710 (Conotruncal defect)\n", + " \n", + " \n", + " #Conotruncal heart defects\n", + " definition of HP:0001710 (Conotruncal defect)\n", + " \n", + " \n", + " Short phalanx of the 4th toe\n", + " definition of HP:0100367 (Short phalanx of the 4th toe)\n", + " \n", + " \n", + " Developmental hypoplasia of one or more phalanx of fourth toe.\n", + " definition of HP:0100367 (Short phalanx of the 4th toe)\n", + " \n", + " \n", + " #Hypoplastic/small phalanges of the 4th toe #Short 4th toe bone #Short phalanx of the fourth toe\n", + " definition of HP:0100367 (Short phalanx of the 4th toe)\n", + " \n", + " \n", + " Nonspecific interstitial pneumonia\n", + " definition of HP:0033584 (Nonspecific interstitial pneumonia)\n", + " \n", + " \n", + " Temporally uniform (all lesions are in the same stage of evolution) pattern of diffuse inflammatory interstitial process, mostly symmetric over the entire lung, involving mainly the alveolar septa.\n", + " definition of HP:0033584 (Nonspecific interstitial pneumonia)\n", + " \n", + " \n", + " #Nonspecific interstitial pneumonitis #NSIP #Temporally uniform pulmonary inflammation\n", + " definition of HP:0033584 (Nonspecific interstitial pneumonia)\n", + " \n", + " \n", + " Pointed hand bones\n", + " definition of HP:0004287 (Pointed hand bones)\n", + " \n", + " \n", + " #Pointed hand bones\n", + " definition of HP:0004287 (Pointed hand bones)\n", + " \n", + " \n", + " Abnormal galactosidase enyzme activity\n", + " definition of HP:0004342 (Abnormal galactosidase enyzme activity)\n", + " \n", + " \n", + " Abnormality of galactoside metabolism. A galactoside is a glycoside (a sugar moiety bound to some other moiety) containing galactose.\n", + " definition of HP:0004342 (Abnormal galactosidase enyzme activity)\n", + " \n", + " \n", + " #Abnormality of galactoside metabolism\n", + " definition of HP:0004342 (Abnormal galactosidase enyzme activity)\n", + " \n", + " \n", + " Visceromegaly\n", + " definition of HP:0003271 (Visceromegaly)\n", + " \n", + " \n", + " Abnormal increased size of the viscera of the abdomen.\n", + " definition of HP:0003271 (Visceromegaly)\n", + " \n", + " \n", + " Intraventricular hemorrhage\n", + " definition of HP:0030746 (Intraventricular hemorrhage)\n", + " \n", + " \n", + " Bleeding into the ventricles of the brain.\n", + " definition of HP:0030746 (Intraventricular hemorrhage)\n", + " \n", + " \n", + " #Intraventricular haemorrhage\n", + " definition of HP:0030746 (Intraventricular hemorrhage)\n", + " \n", + " \n", + " Retinal hamartoma\n", + " definition of HP:0009594 (Retinal hamartoma)\n", + " \n", + " \n", + " A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina.\n", + " definition of HP:0009594 (Retinal hamartoma)\n", + " \n", + " \n", + " Ectopic cilia of eyelid\n", + " definition of HP:0430006 (Ectopic cilia of eyelid)\n", + " \n", + " \n", + " An eyelash that emerges from the underside (conjunctiva) of the upper or lower eyelid.\n", + " definition of HP:0430006 (Ectopic cilia of eyelid)\n", + " \n", + " \n", + " Cherry red spot of the macula\n", + " definition of HP:0010729 (Cherry red spot of the macula)\n", + " \n", + " \n", + " Pallor of the perifoveal macula of the retina with appearance of a small circular reddish choroid shape as seen through the fovea centralis due to relative transparency of the macula.\n", + " definition of HP:0010729 (Cherry red spot of the macula)\n", + " \n", + " \n", + " #Macular cherry red spot\n", + " definition of HP:0010729 (Cherry red spot of the macula)\n", + " \n", + " \n", + " Concave nasal ridge\n", + " definition of HP:0011120 (Concave nasal ridge)\n", + " \n", + " \n", + " Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip.\n", + " definition of HP:0011120 (Concave nasal ridge)\n", + " \n", + " \n", + " #Boxer's nasal deformity #Boxer's nose deformity #Concave dorsum of nose #Concave nasal dorsum #Saddle nose #Saddle shaped nasal dorsum #Ski jump nose\n", + " definition of HP:0011120 (Concave nasal ridge)\n", + " \n", + " \n", + " Increased proportion of transitional B cells\n", + " definition of HP:0030381 (Increased proportion of transitional B cells)\n", + " \n", + " \n", + " An elevation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells.\n", + " definition of HP:0030381 (Increased proportion of transitional B cells)\n", + " \n", + " \n", + " #Increased proportion of CD19+CD38+IgM+ cells\n", + " definition of HP:0030381 (Increased proportion of transitional B cells)\n", + " \n", + " \n", + " Dyssynergia\n", + " definition of HP:0010867 (Dyssynergia)\n", + " \n", + " \n", + " A type of ataxia characterized by the impairment of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed. With dyssynergia, a voluntary movement appears broken down into its component parts.\n", + " definition of HP:0010867 (Dyssynergia)\n", + " \n", + " \n", + " Rest limb pain\n", + " definition of HP:6000627 (Rest limb pain)\n", + " \n", + " \n", + " Rest pain is a continuous unrelenting pain due to ischemia of the lower leg, beginning with or being aggravated by elevation and being relieved by sitting with legs in a dependent position or by standing.\n", + " definition of HP:6000627 (Rest limb pain)\n", + " \n", + " \n", + " #Critical limb ischemia\n", + " definition of HP:6000627 (Rest limb pain)\n", + " \n", + " \n", + " Mandibulofacial dysostosis\n", + " definition of HP:0005321 (Mandibulofacial dysostosis)\n", + " \n", + " \n", + " A type of craniofacial dysostosis associated with abnormalities of the external ears, mirognathia, macrostomia, coloboma of the lower eyelid, and cleft palate. This is a bundled term that is left in the HPO now for convenience with legacy annotations but should not be used for new annotations.\n", + " definition of HP:0005321 (Mandibulofacial dysostosis)\n", + " \n", + " \n", + " #Treacher Collins syndrome\n", + " definition of HP:0005321 (Mandibulofacial dysostosis)\n", + " \n", + " \n", + " Abnormal proportion of CD4+ effector memory cells\n", + " definition of HP:0025623 (Abnormal proportion of CD4+ effector memory cells)\n", + " \n", + " \n", + " An abnormal proportion of effector memory CD4+ T cells compared to the total number of T cells in the blood. These are memory cells that are short-lived cells that migrate to the site of an infection and attempt to eliminate the pathogen. These cells have the phenotype CD3-positive, CD4-positive, CD62L-negative, CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.\n", + " definition of HP:0025623 (Abnormal proportion of CD4+ effector memory cells)\n", + " \n", + " \n", + " #Abnormal proportion of CD4-positive effector memory cells #Abnormal proportion of effector memory CD4-positive, alpha-beta T cells\n", + " definition of HP:0025623 (Abnormal proportion of CD4+ effector memory cells)\n", + " \n", + " \n", + " Fine, reticulate skin pigmentation\n", + " definition of HP:0007617 (Fine, reticulate skin pigmentation)\n", + " \n", + " \n", + " Ivory epiphyses of the 2nd toe\n", + " definition of HP:0100050 (Ivory epiphyses of the 2nd toe)\n", + " \n", + " \n", + " Epiphyses of the 2nd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.\n", + " definition of HP:0100050 (Ivory epiphyses of the 2nd toe)\n", + " \n", + " \n", + " #Increased bone density of end part of the 2nd toe\n", + " definition of HP:0100050 (Ivory epiphyses of the 2nd toe)\n", + " \n", + " \n", + " Cerebral berry aneurysm\n", + " definition of HP:0007029 (Cerebral berry aneurysm)\n", + " \n", + " \n", + " A small, sac-like aneurysm (outpouching) of a cerebral blood vessel.\n", + " definition of HP:0007029 (Cerebral berry aneurysm)\n", + " \n", + " \n", + " #Cerebral saccular aneurysm\n", + " definition of HP:0007029 (Cerebral berry aneurysm)\n", + " \n", + " \n", + " Sleep apnea\n", + " definition of HP:0010535 (Sleep apnea)\n", + " \n", + " \n", + " An intermittent cessation of airflow at the mouth and nose during sleep is known as sleep apnea. Apneas that last at least 10 seconds are considered significant, but individuals with sleep apnea may experience apneas lasting from 20 seconds up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep.\n", + " definition of HP:0010535 (Sleep apnea)\n", + " \n", + " \n", + " #Pauses in breathing while sleeping #Sleep apnea #Sleep apnoea\n", + " definition of HP:0010535 (Sleep apnea)\n", + " \n", + " \n", + " Sydney crease\n", + " definition of HP:0011311 (Sydney crease)\n", + " \n", + " \n", + " Extension of the proximal transverse crease (five finger crease) to the ulnar edge of the palm.\n", + " definition of HP:0011311 (Sydney crease)\n", + " \n", + " \n", + " Circumungual hyperkeratosis\n", + " definition of HP:0008399 (Circumungual hyperkeratosis)\n", + " \n", + " \n", + " A thickening of the stratum corneum, the outer layer of the skin, in the region surrounding the nails.\n", + " definition of HP:0008399 (Circumungual hyperkeratosis)\n", + " \n", + " \n", + " #Thick skin around nails\n", + " definition of HP:0008399 (Circumungual hyperkeratosis)\n", + " \n", + " \n", + " Neoplasm of the urethra\n", + " definition of HP:0100517 (Neoplasm of the urethra)\n", + " \n", + " \n", + " The presence of a neoplasm of the urethra.\n", + " definition of HP:0100517 (Neoplasm of the urethra)\n", + " \n", + " \n", + " Bidirectional shunt\n", + " definition of HP:0012383 (Bidirectional shunt)\n", + " \n", + " \n", + " Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from both right side of the heart to the left and vice versa.\n", + " definition of HP:0012383 (Bidirectional shunt)\n", + " \n", + " \n", + " Reduced circulating growth hormone concentration\n", + " definition of HP:0034323 (Reduced circulating growth hormone concentration)\n", + " \n", + " \n", + " Concentration of growth hormone in the blood circulation below normal limits.\n", + " definition of HP:0034323 (Reduced circulating growth hormone concentration)\n", + " \n", + " \n", + " #Growth hormone deficiency #Somatotropin deficiency\n", + " definition of HP:0034323 (Reduced circulating growth hormone concentration)\n", + " \n", + " \n", + " Scapular winging\n", + " definition of HP:0003691 (Scapular winging)\n", + " \n", + " \n", + " Abnormal protrusion of the scapula away from the surface of the back.\n", + " definition of HP:0003691 (Scapular winging)\n", + " \n", + " \n", + " #Scapula alata #Winged scapulae #Winged scapulas #Winged shoulder blade\n", + " definition of HP:0003691 (Scapular winging)\n", + " \n", + " \n", + " Repeated pneumothoraces\n", + " definition of HP:0006522 (Repeated pneumothoraces)\n", + " \n", + " \n", + " #Repeated pneumothorax\n", + " definition of HP:0006522 (Repeated pneumothoraces)\n", + " \n", + " \n", + " Bowel urgency\n", + " definition of HP:0012701 (Bowel urgency)\n", + " \n", + " \n", + " A sudden, irresistible need to have a bowel movement.\n", + " definition of HP:0012701 (Bowel urgency)\n", + " \n", + " \n", + " #Faecal urgency #Fecal urgency\n", + " definition of HP:0012701 (Bowel urgency)\n", + " \n", + " \n", + " Peripheral retinal neovascularization\n", + " definition of HP:0030667 (Peripheral retinal neovascularization)\n", + " \n", + " \n", + " A type of retinal neovascularization that affects the periphery of the retina.\n", + " definition of HP:0030667 (Peripheral retinal neovascularization)\n", + " \n", + " \n", + " Mild conductive hearing impairment\n", + " definition of HP:0008598 (Mild conductive hearing impairment)\n", + " \n", + " \n", + " A mild form of conductive hearing impairment.\n", + " definition of HP:0008598 (Mild conductive hearing impairment)\n", + " \n", + " \n", + " #Conductive hearing loss, mild\n", + " definition of HP:0008598 (Mild conductive hearing impairment)\n", + " \n", + " \n", + " Abnormality of the middle ear ossicles\n", + " definition of HP:0004452 (Abnormality of the middle ear ossicles)\n", + " \n", + " \n", + " An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea).\n", + " definition of HP:0004452 (Abnormality of the middle ear ossicles)\n", + " \n", + " \n", + " #Malformed ossicles #Ossicular malformation\n", + " definition of HP:0004452 (Abnormality of the middle ear ossicles)\n", + " \n", + " \n", + " Abnormality of the vasculature of the eye\n", + " definition of HP:0008047 (Abnormality of the vasculature of the eye)\n", + " \n", + " \n", + " #Abnormality of eye blood vessels\n", + " definition of HP:0008047 (Abnormality of the vasculature of the eye)\n", + " \n", + " \n", + " Metacarpal synostosis\n", + " definition of HP:0009701 (Metacarpal synostosis)\n", + " \n", + " \n", + " Fusion involving two or more metacarpal bones (A synostosis of the first metacarpal and the proximal phalanx of the thumb can also be observed, note that the first metacarpal bone corresponds to a proximal phalanx).\n", + " definition of HP:0009701 (Metacarpal synostosis)\n", + " \n", + " \n", + " #Fused long bones of hand #Synostosis involving metacarpal bones #Synostosis involving the metacarpal bones\n", + " definition of HP:0009701 (Metacarpal synostosis)\n", + " \n", + " \n", + " Impaired antigen-specific response\n", + " definition of HP:0031404 (Impaired antigen-specific response)\n", + " \n", + " \n", + " An impaired immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory).\n", + " definition of HP:0031404 (Impaired antigen-specific response)\n", + " \n", + " \n", + " #Impaired adaptive immune response\n", + " definition of HP:0031404 (Impaired antigen-specific response)\n", + " \n", + " \n", + " Broad thumb\n", + " definition of HP:0011304 (Broad thumb)\n", + " \n", + " \n", + " Increased thumb width without increased dorso-ventral dimension.\n", + " definition of HP:0011304 (Broad thumb)\n", + " \n", + " \n", + " #Broad phalanges of the thumb #Broad thumb #Broad thumbs #Wide/broad thumb #Wide/broad thumb phalanges\n", + " definition of HP:0011304 (Broad thumb)\n", + " \n", + " \n", + " Mesocardia\n", + " definition of HP:0011599 (Mesocardia)\n", + " \n", + " \n", + " Mesocardia is an abnormal location of the heart in which the heart is in a midline position and the longitudinal axis of the heart lies in the mid-sagittal plane.\n", + " definition of HP:0011599 (Mesocardia)\n", + " \n", + " \n", + " Aplasia of the right hemidiaphragm\n", + " definition of HP:0032592 (Aplasia of the right hemidiaphragm)\n", + " \n", + " \n", + " Congenital absence of the right-sided diaphragm.\n", + " definition of HP:0032592 (Aplasia of the right hemidiaphragm)\n", + " \n", + " \n", + " #Right diaphragmatic hernia\n", + " definition of HP:0032592 (Aplasia of the right hemidiaphragm)\n", + " \n", + " \n", + " Frontal polymicrogyria\n", + " definition of HP:0006821 (Frontal polymicrogyria)\n", + " \n", + " \n", + " A type of polymicrogyria with a gradient of severity (anterior more severe than posterior) extending from frontal poles posteriorly to precentral gyrus and inferiorly to frontal operculum.\n", + " definition of HP:0006821 (Frontal polymicrogyria)\n", + " \n", + " \n", + " #Polymicrogyria, anterior to posterior gradient\n", + " definition of HP:0006821 (Frontal polymicrogyria)\n", + " \n", + " \n", + " Rhabdoid tumor\n", + " definition of HP:0034557 (Rhabdoid tumor)\n", + " \n", + " \n", + " Rhabdoid tumors are rare aggressive malignancies in infants and young children with a poor prognosis. The most common anatomic localizations are the central nervous system, the kidneys, and other soft tissues.\n", + " definition of HP:0034557 (Rhabdoid tumor)\n", + " \n", + " \n", + " Double orifice mitral valve\n", + " definition of HP:0011568 (Double orifice mitral valve)\n", + " \n", + " \n", + " The left atrio-ventricular connection consists of two anatomically distinct orifices separated by accessory fibrous tissue.\n", + " definition of HP:0011568 (Double orifice mitral valve)\n", + " \n", + " \n", + " Abnormal static automated perimetry test\n", + " definition of HP:0030595 (Abnormal static automated perimetry test)\n", + " \n", + " \n", + " Excessive daytime somnolence\n", + " definition of HP:0001262 (Excessive daytime somnolence)\n", + " \n", + " \n", + " A state of abnormally strong desire for sleep during the daytime.\n", + " definition of HP:0001262 (Excessive daytime somnolence)\n", + " \n", + " \n", + " #Excessive daytime sleepiness #More than typical sleepiness during day\n", + " definition of HP:0001262 (Excessive daytime somnolence)\n", + " \n", + " \n", + " Abnormal atrioventricular valve morphology\n", + " definition of HP:0006705 (Abnormal atrioventricular valve morphology)\n", + " \n", + " \n", + " An abnormality of an atrioventricular valve.\n", + " definition of HP:0006705 (Abnormal atrioventricular valve morphology)\n", + " \n", + " \n", + " #Abnormality of the atrioventricular valves\n", + " definition of HP:0006705 (Abnormal atrioventricular valve morphology)\n", + " \n", + " \n", + " Anal neoplasm\n", + " definition of HP:0032186 (Anal neoplasm)\n", + " \n", + " \n", + " A benign or malignant neoplasm that affects the anal canal or anal margin.\n", + " definition of HP:0032186 (Anal neoplasm)\n", + " \n", + " \n", + " Partial duplication of the 1st metatarsal\n", + " definition of HP:0010099 (Partial duplication of the 1st metatarsal)\n", + " \n", + " \n", + " A developmental defect consisting in the duplication of part of the first metatarsal bone.\n", + " definition of HP:0010099 (Partial duplication of the 1st metatarsal)\n", + " \n", + " \n", + " #Partial duplication of the 1st long bone of foot\n", + " definition of HP:0010099 (Partial duplication of the 1st metatarsal)\n", + " \n", + " \n", + " Difficulty climbing stairs\n", + " definition of HP:0003551 (Difficulty climbing stairs)\n", + " \n", + " \n", + " Reduced ability to climb stairs.\n", + " definition of HP:0003551 (Difficulty climbing stairs)\n", + " \n", + " \n", + " #Difficulty walking up stairs\n", + " definition of HP:0003551 (Difficulty climbing stairs)\n", + " \n", + " \n", + " Sclerotic scapulae\n", + " definition of HP:0001474 (Sclerotic scapulae)\n", + " \n", + " \n", + " Increased density of the bony tissue of the scapula.\n", + " definition of HP:0001474 (Sclerotic scapulae)\n", + " \n", + " \n", + " Absent Achilles reflex\n", + " definition of HP:0003438 (Absent Achilles reflex)\n", + " \n", + " \n", + " Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed.\n", + " definition of HP:0003438 (Absent Achilles reflex)\n", + " \n", + " \n", + " #Absent ankle reflexes\n", + " definition of HP:0003438 (Absent Achilles reflex)\n", + " \n", + " \n", + " Gallbladder biliary sludging\n", + " definition of HP:0034961 (Gallbladder biliary sludging)\n", + " \n", + " \n", + " Presence of biliary sludge (a mixture of particulate solids that have precipitated from bile) in the gallbladder. Such sediment consists of cholesterol crystals, calcium bilirubinate pigment, and other calcium salts. Sludge is usually detected on transabdominal ultrasonography.\n", + " definition of HP:0034961 (Gallbladder biliary sludging)\n", + " \n", + " \n", + " Reduced T cell CD40 expression\n", + " definition of HP:0031384 (Reduced T cell CD40 expression)\n", + " \n", + " \n", + " A deficiency in the expression of the CD40 ligand on the surface of activated T-lymphocytes.\n", + " definition of HP:0031384 (Reduced T cell CD40 expression)\n", + " \n", + " \n", + " Talar aplasia\n", + " definition of HP:0033977 (Talar aplasia)\n", + " \n", + " \n", + " Absent talus owing to a congenital defect.\n", + " definition of HP:0033977 (Talar aplasia)\n", + " \n", + " \n", + " #Absent talus #Talus aplasia\n", + " definition of HP:0033977 (Talar aplasia)\n", + " \n", + " \n", + " Ring-enhancing cerebral lesion\n", + " definition of HP:0025738 (Ring-enhancing cerebral lesion)\n", + " \n", + " \n", + " An abnormal neuroimaging finding consisting in an area of decreased density surrounded by a bright rim from concentration of the enhancing contrast dye.\n", + " definition of HP:0025738 (Ring-enhancing cerebral lesion)\n", + " \n", + " \n", + " Uterine leiomyosarcoma\n", + " definition of HP:0002891 (Uterine leiomyosarcoma)\n", + " \n", + " \n", + " The presence of a leiomyosarcoma of the uterus.\n", + " definition of HP:0002891 (Uterine leiomyosarcoma)\n", + " \n", + " \n", + " Anti-Powassan virus antibody positivity\n", + " definition of HP:0430090 (Anti-Powassan virus antibody positivity)\n", + " \n", + " \n", + " The presence of antibodies in the blood circulation that react against a component of a Powassan virus (POW), which is an arbovirus within the family of Flaviviruses primarily found in the Northeastern United States, Canada, and Russia. It is a zoonotic infection transmitted to humans by several tick species and is the only member of the tick-borne flaviviruses endemic to North America.\n", + " definition of HP:0430090 (Anti-Powassan virus antibody positivity)\n", + " \n", + " \n", + " #Anti-Powassan encephalitis virus antibody positivity #Powassan encephalitis antibody titer high in blood\n", + " definition of HP:0430090 (Anti-Powassan virus antibody positivity)\n", + " \n", + " \n", + " Abnormal proportion of CD4-positive T cells\n", + " definition of HP:0031392 (Abnormal proportion of CD4-positive T cells)\n", + " \n", + " \n", + " Any abnormality in the proportion of CD4-positive T cells relative to the total number of T cells.\n", + " definition of HP:0031392 (Abnormal proportion of CD4-positive T cells)\n", + " \n", + " \n", + " #Abnormal proportion of CD4+ T cells #Abnormal proportion of CD4-positive, alpha-beta T cells\n", + " definition of HP:0031392 (Abnormal proportion of CD4-positive T cells)\n", + " \n", + " \n", + " Granular casts\n", + " definition of HP:0031201 (Granular casts)\n", + " \n", + " \n", + " A type of acelluar casts that have a surface composed of granules, which can vary in size. The granules can be rather heterogeneous, ranging from fine (finely granular cast) up to coarse (coarsely granular cast), dark, clear, and pigmented.\n", + " definition of HP:0031201 (Granular casts)\n", + " \n", + " \n", + " Limited interphalangeal movement\n", + " definition of HP:0006064 (Limited interphalangeal movement)\n", + " \n", + " \n", + " #Limited movement of hinge joints\n", + " definition of HP:0006064 (Limited interphalangeal movement)\n", + " \n", + " \n", + " Congenital facial diplegia\n", + " definition of HP:0007188 (Congenital facial diplegia)\n", + " \n", + " \n", + " Facial diplegia (that is, bilateral facial palsy) with congenital onset.\n", + " definition of HP:0007188 (Congenital facial diplegia)\n", + " \n", + " \n", + " #Congenital bilateral facial palsy #Congenital bilateral facial weakness\n", + " definition of HP:0007188 (Congenital facial diplegia)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the middle phalanges of the toes\n", + " definition of HP:0010194 (Aplasia/Hypoplasia of the middle phalanges of the toes)\n", + " \n", + " \n", + " #Absent/small middle bones of toe #Absent/underdeveloped middle bones of toe\n", + " definition of HP:0010194 (Aplasia/Hypoplasia of the middle phalanges of the toes)\n", + " \n", + " \n", + " Vascular ring\n", + " definition of HP:0010775 (Vascular ring)\n", + " \n", + " \n", + " A developmental defect of the aortic arch system in which the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches. This occurs if the normal process of regression and persistence of the bilateral embryonic aortic arches fails.\n", + " definition of HP:0010775 (Vascular ring)\n", + " \n", + " \n", + " #Vascular ring of aorta\n", + " definition of HP:0010775 (Vascular ring)\n", + " \n", + " \n", + " Iritis\n", + " definition of HP:0001101 (Iritis)\n", + " \n", + " \n", + " Inflammation of the iris.\n", + " definition of HP:0001101 (Iritis)\n", + " \n", + " \n", + " #Inflammation of iris\n", + " definition of HP:0001101 (Iritis)\n", + " \n", + " \n", + " Abnormal change in social behavior\n", + " definition of HP:5200243 (Abnormal change in social behavior)\n", + " \n", + " \n", + " An alternation in the habits and emotional tendencies of an individual with a change in behavior that is typically noticed by family members or peers.\n", + " definition of HP:5200243 (Abnormal change in social behavior)\n", + " \n", + " \n", + " Focal emotional seizure with laughing\n", + " definition of HP:0010821 (Focal emotional seizure with laughing)\n", + " \n", + " \n", + " Focal emotional seizure with laughing (gelastic) is characterized by bursts of laughter or giggling, usually without appropriate related emotion of happiness, and described as 'mirthless'.\n", + " definition of HP:0010821 (Focal emotional seizure with laughing)\n", + " \n", + " \n", + " #Gelastic seizure #Gelastic seizures\n", + " definition of HP:0010821 (Focal emotional seizure with laughing)\n", + " \n", + " \n", + " Spinal epidural abscess\n", + " definition of HP:0033181 (Spinal epidural abscess)\n", + " \n", + " \n", + " Spinal epidural abscess (SEA) is caused by a suppurative infection in the epidural space. The mass effect of the abscess can compress and reduce blood flow to the spinal cord, conus medullaris, or cauda equina.\n", + " definition of HP:0033181 (Spinal epidural abscess)\n", + " \n", + " \n", + " #A severe pyogenic infection of the epidural space\n", + " definition of HP:0033181 (Spinal epidural abscess)\n", + " \n", + " \n", + " Laryngeal cyst\n", + " definition of HP:0100640 (Laryngeal cyst)\n", + " \n", + " \n", + " Presence of a cyst (sac-like structure) located in the larynx.\n", + " definition of HP:0100640 (Laryngeal cyst)\n", + " \n", + " \n", + " Spurred metaphyses of the upper limbs\n", + " definition of HP:0003855 (Spurred metaphyses of the upper limbs)\n", + " \n", + " \n", + " #Spurred wide portion of upper limb bone\n", + " definition of HP:0003855 (Spurred metaphyses of the upper limbs)\n", + " \n", + " \n", + " Positive Neisseria gonorrhoeae urine nucleic acid test\n", + " definition of HP:0034891 (Positive Neisseria gonorrhoeae urine nucleic acid test)\n", + " \n", + " \n", + " Detection of Neisseria gonorrhoeae nucleic acid in the urine by a method such as polymerase chain reaction.\n", + " definition of HP:0034891 (Positive Neisseria gonorrhoeae urine nucleic acid test)\n", + " \n", + " \n", + " #Neisseria gonorrhoeae PCR positive in urine\n", + " definition of HP:0034891 (Positive Neisseria gonorrhoeae urine nucleic acid test)\n", + " \n", + " \n", + " Decreased CSF biopterin level\n", + " definition of HP:0040209 (Decreased CSF biopterin level)\n", + " \n", + " \n", + " Concentration of biopterin in the cerebrospinal fluid (CSF) below the lower limit of normal.\n", + " definition of HP:0040209 (Decreased CSF biopterin level)\n", + " \n", + " \n", + " #Decreased cerebrospinal fluid biopterin level\n", + " definition of HP:0040209 (Decreased CSF biopterin level)\n", + " \n", + " \n", + " 3-4 finger cutaneous syndactyly\n", + " definition of HP:0011939 (3-4 finger cutaneous syndactyly)\n", + " \n", + " \n", + " A soft tissue continuity in the A/P axis between fingers 3 and 4.\n", + " definition of HP:0011939 (3-4 finger cutaneous syndactyly)\n", + " \n", + " \n", + " Abnormal neck blood vessel morphology\n", + " definition of HP:3000037 (Abnormal neck blood vessel morphology)\n", + " \n", + " \n", + " An abnormality of a blood vessel of the neck, including branches of the arterial and venous systems of the neck.\n", + " definition of HP:3000037 (Abnormal neck blood vessel morphology)\n", + " \n", + " \n", + " #Abnormality of blood vessel of neck #Abnormality of neck blood vessel #Abnormality of the cervical blood vessels #Abnormality of the cervical vasculature #Abnormality of the vasculature of the neck\n", + " definition of HP:3000037 (Abnormal neck blood vessel morphology)\n", + " \n", + " \n", + " Cardiac valve vegetations\n", + " definition of HP:6000326 (Cardiac valve vegetations)\n", + " \n", + " \n", + " Endocarditis infection occurs along the edges of the heart valves. Damage to the cardiac endothelium followed by platelet and fibrin deposition results in a sterile lesion known as nonbacterial thrombotic endocarditis (NBTE) or vegetation. Microbes entering the bloodstream via routine or invasive procedures adhere to the vegetation and are engulfed in an outer meshwork of fibrin and platelets. Subsequent rapid microbial multiplication in a protected area of impaired host defense leads to vegetation growth and continuous bacteremia.\n", + " definition of HP:6000326 (Cardiac valve vegetations)\n", + " \n", + " \n", + " Thyroid lymphangiectasia\n", + " definition of HP:0008229 (Thyroid lymphangiectasia)\n", + " \n", + " \n", + " The presence of lymphangiectasis of the thyroid gland.\n", + " definition of HP:0008229 (Thyroid lymphangiectasia)\n", + " \n", + " \n", + " #Thyroid lymphangiectasis\n", + " definition of HP:0008229 (Thyroid lymphangiectasia)\n", + " \n", + " \n", + " Abnormal proportion of memory T cells\n", + " definition of HP:0032182 (Abnormal proportion of memory T cells)\n", + " \n", + " \n", + " An abnormal proportion of memory T cells compared to the total number of T cells in the blood. Memory T cells have previously encountered and responded to their cognate antigen and upon a repeated encounter with the antigen can mount a faster and stronger response.\n", + " definition of HP:0032182 (Abnormal proportion of memory T cells)\n", + " \n", + " \n", + " #Abnormal proportion of CD4+CD29+ cells\n", + " definition of HP:0032182 (Abnormal proportion of memory T cells)\n", + " \n", + " \n", + " Absent epiphysis of the distal phalanx of the 5th finger\n", + " definition of HP:0003696 (Absent epiphysis of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " Absence of the epiphysis located at the proximal end of the distal phalanx of the 5th finger.\n", + " definition of HP:0003696 (Absent epiphysis of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " #Absent end part of the outermost bone of the little finger #Absent end part of the outermost bone of the pinkie finger #Absent end part of the outermost bone of the pinky finger\n", + " definition of HP:0003696 (Absent epiphysis of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " Rachitic rosary\n", + " definition of HP:0000897 (Rachitic rosary)\n", + " \n", + " \n", + " A row of beadlike prominences at the junction of a rib and its cartilage (i.e., enlarged costochondral joints), resembling a rosary. Note that rachitic rosary would have one bead per rib (a swelling at the costochondral junction), while beaded ribs in the context of multiple rib fractures have multiple beads (fractures) along the same rib.\n", + " definition of HP:0000897 (Rachitic rosary)\n", + " \n", + " \n", + " Absent epiphysis of the proximal phalanx of the 4th toe\n", + " definition of HP:0100191 (Absent epiphysis of the proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " #Absent end part of the innermost bone of the 4th toe\n", + " definition of HP:0100191 (Absent epiphysis of the proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " Serositis\n", + " definition of HP:0045073 (Serositis)\n", + " \n", + " \n", + " Inflammation in any serous cavity.\n", + " definition of HP:0045073 (Serositis)\n", + " \n", + " \n", + " Increased circulating prolactin concentration\n", + " definition of HP:0000870 (Increased circulating prolactin concentration)\n", + " \n", + " \n", + " The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy.\n", + " definition of HP:0000870 (Increased circulating prolactin concentration)\n", + " \n", + " \n", + " #Hyperprolactinaemia #Hyperprolactinemia #Prolactin excess\n", + " definition of HP:0000870 (Increased circulating prolactin concentration)\n", + " \n", + " \n", + " Sleep-interrupting\n", + " definition of HP:0025284 (Sleep-interrupting)\n", + " \n", + " \n", + " Applied to pain that wakes the affecting individual from sleep.\n", + " definition of HP:0025284 (Sleep-interrupting)\n", + " \n", + " \n", + " Chronic otitis media\n", + " definition of HP:0000389 (Chronic otitis media)\n", + " \n", + " \n", + " Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear.\n", + " definition of HP:0000389 (Chronic otitis media)\n", + " \n", + " \n", + " #Chronic infections of the middle ear #Otitis media, chronic\n", + " definition of HP:0000389 (Chronic otitis media)\n", + " \n", + " \n", + " Elevated urinary homogentisic acid\n", + " definition of HP:0033704 (Elevated urinary homogentisic acid)\n", + " \n", + " \n", + " An increased amount of homogentisic acid in the urine.\n", + " definition of HP:0033704 (Elevated urinary homogentisic acid)\n", + " \n", + " \n", + " Abnormal sensory nerve conduction velocity\n", + " definition of HP:0040132 (Abnormal sensory nerve conduction velocity)\n", + " \n", + " \n", + " Palmoplantar cutis gyrata\n", + " definition of HP:0007469 (Palmoplantar cutis gyrata)\n", + " \n", + " \n", + " Cutis gyrata of palms and soles.\n", + " definition of HP:0007469 (Palmoplantar cutis gyrata)\n", + " \n", + " \n", + " #Cutis gyrata of palms and soles\n", + " definition of HP:0007469 (Palmoplantar cutis gyrata)\n", + " \n", + " \n", + " Absent epiphysis of the proximal phalanx of the hallux\n", + " definition of HP:0010127 (Absent epiphysis of the proximal phalanx of the hallux)\n", + " \n", + " \n", + " Failure to form (agenesis) of the epiphysis of the proximal phalanx of the hallux.\n", + " definition of HP:0010127 (Absent epiphysis of the proximal phalanx of the hallux)\n", + " \n", + " \n", + " #Absent end part of the innermost bone of the big toe\n", + " definition of HP:0010127 (Absent epiphysis of the proximal phalanx of the hallux)\n", + " \n", + " \n", + " Increased circulating palmitate level\n", + " definition of HP:0032462 (Increased circulating palmitate level)\n", + " \n", + " \n", + " An elevation beyond the normal concentration of palmitate (palmitic acid) in the blood circulation.\n", + " definition of HP:0032462 (Increased circulating palmitate level)\n", + " \n", + " \n", + " Radioulnar dislocation\n", + " definition of HP:0006439 (Radioulnar dislocation)\n", + " \n", + " \n", + " A dislocation is a separation of the radius and ulna bones where they normally meet. The radioulnar joints are two locations, proximal and distal, in which the radius and ulna articulate in the forearm. Both can dislocate.\n", + " definition of HP:0006439 (Radioulnar dislocation)\n", + " \n", + " \n", + " #Dislocated radioulnar joints\n", + " definition of HP:0006439 (Radioulnar dislocation)\n", + " \n", + " \n", + " Decreased glucose-6-phosphate dehydrogenase level in red blood cells\n", + " definition of HP:0410188 (Decreased glucose-6-phosphate dehydrogenase level in red blood cells)\n", + " \n", + " \n", + " A decrease in the level of glucose-6-phosphate dehydrogenase in red blood cells.\n", + " definition of HP:0410188 (Decreased glucose-6-phosphate dehydrogenase level in red blood cells)\n", + " \n", + " \n", + " #Decreased G6PD level in RBCs #Decreased G6PD level in red blood cells\n", + " definition of HP:0410188 (Decreased glucose-6-phosphate dehydrogenase level in red blood cells)\n", + " \n", + " \n", + " Overhanging nasal tip\n", + " definition of HP:0011833 (Overhanging nasal tip)\n", + " \n", + " \n", + " Positioning of the nasal tip inferior to the nasal base.\n", + " definition of HP:0011833 (Overhanging nasal tip)\n", + " \n", + " \n", + " #Drooping nasal tip #Hooked tip of nose #Low hanging nasal tip #Nasal tip, overhanging #Overhanging nasal tip\n", + " definition of HP:0011833 (Overhanging nasal tip)\n", + " \n", + " \n", + " Seminal vesicle agenesis\n", + " definition of HP:0430121 (Seminal vesicle agenesis)\n", + " \n", + " \n", + " A developmental defect characterized by congenital absence of the seminal vesicle.\n", + " definition of HP:0430121 (Seminal vesicle agenesis)\n", + " \n", + " \n", + " #Absent seminal vesicles\n", + " definition of HP:0430121 (Seminal vesicle agenesis)\n", + " \n", + " \n", + " Gonadal tissue inappropriate for external genitalia or chromosomal sex\n", + " definition of HP:0003248 (Gonadal tissue inappropriate for external genitalia or chromosomal sex)\n", + " \n", + " \n", + " Dysmetric horizontal saccades\n", + " definition of HP:0032015 (Dysmetric horizontal saccades)\n", + " \n", + " \n", + " Inaccurate saccades (rapid movement of the eye between fixation points) in the horizontal direction.\n", + " definition of HP:0032015 (Dysmetric horizontal saccades)\n", + " \n", + " \n", + " Abnormal blood oxygen level\n", + " definition of HP:0500165 (Abnormal blood oxygen level)\n", + " \n", + " \n", + " An abnormality of the partial pressure of oxygen in the arterial blood.\n", + " definition of HP:0500165 (Abnormal blood oxygen level)\n", + " \n", + " \n", + " #Abnormal blood O2 level #Abnormal blood oxygen levels #Abnormal O2 blood concentration\n", + " definition of HP:0500165 (Abnormal blood oxygen level)\n", + " \n", + " \n", + " Loss of subcutaneous adipose tissue in limbs\n", + " definition of HP:0003635 (Loss of subcutaneous adipose tissue in limbs)\n", + " \n", + " \n", + " Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg.\n", + " definition of HP:0003635 (Loss of subcutaneous adipose tissue in limbs)\n", + " \n", + " \n", + " #Loss of fat tissue below the skin in limbs #Loss of subcutaneous adipose tissue from extremities\n", + " definition of HP:0003635 (Loss of subcutaneous adipose tissue in limbs)\n", + " \n", + " \n", + " Abnormal ocular adnexa physiology\n", + " definition of HP:0032040 (Abnormal ocular adnexa physiology)\n", + " \n", + " \n", + " A functional anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva.\n", + " definition of HP:0032040 (Abnormal ocular adnexa physiology)\n", + " \n", + " \n", + " Thickened femoral cortex\n", + " definition of HP:6000810 (Thickened femoral cortex)\n", + " \n", + " \n", + " Abnormally increased thicknes of the cortical layer of the femur.\n", + " definition of HP:6000810 (Thickened femoral cortex)\n", + " \n", + " \n", + " Osteochondroma\n", + " definition of HP:0030431 (Osteochondroma)\n", + " \n", + " \n", + " A cartilage capped bony outgrowth of a long bone. Osteochondroma arises on the external surface of bone containing a marrow cavity that is continuous with that of the underlying bone.\n", + " definition of HP:0030431 (Osteochondroma)\n", + " \n", + " \n", + " #Osteocartilaginous exostoses #Osteochondromas\n", + " definition of HP:0030431 (Osteochondroma)\n", + " \n", + " \n", + " Long eyelashes\n", + " definition of HP:0000527 (Long eyelashes)\n", + " \n", + " \n", + " Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective).\n", + " definition of HP:0000527 (Long eyelashes)\n", + " \n", + " \n", + " #Ciliary trichomegaly #Eyelash trichomegaly #Increased length of eyelashes #Long eyelashes #Unusually long eyelashes\n", + " definition of HP:0000527 (Long eyelashes)\n", + " \n", + " \n", + " 1-2 toe syndactyly\n", + " definition of HP:0010711 (1-2 toe syndactyly)\n", + " \n", + " \n", + " Syndactyly with fusion of toes one and two.\n", + " definition of HP:0010711 (1-2 toe syndactyly)\n", + " \n", + " \n", + " #Webbed 1st-2nd toes #Webbed first and second toes\n", + " definition of HP:0010711 (1-2 toe syndactyly)\n", + " \n", + " \n", + " Abnormal layering of muscularis propria\n", + " definition of HP:0030936 (Abnormal layering of muscularis propria)\n", + " \n", + " \n", + " Abnormal layering of the intestinal muscularis propria into three layers; (1) inner circular; (2) additional oblique; and (3) outer longitudinal layer.\n", + " definition of HP:0030936 (Abnormal layering of muscularis propria)\n", + " \n", + " \n", + " #Muscularis propria malformation #Segmental additional circular muscle coat\n", + " definition of HP:0030936 (Abnormal layering of muscularis propria)\n", + " \n", + " \n", + " Palpebral thickening\n", + " definition of HP:0030939 (Palpebral thickening)\n", + " \n", + " \n", + " An increased thickness of the eyelid not related to acute inflammation.\n", + " definition of HP:0030939 (Palpebral thickening)\n", + " \n", + " \n", + " #Eyelid thickening #Thick eyelids #Thickened but nonswollen eyelids #Thickened eyelid\n", + " definition of HP:0030939 (Palpebral thickening)\n", + " \n", + " \n", + " Absent soft palate\n", + " definition of HP:0031046 (Absent soft palate)\n", + " \n", + " \n", + " A developmental defect characterized by lack of a soft palate.\n", + " definition of HP:0031046 (Absent soft palate)\n", + " \n", + " \n", + " #Agenesis of the soft palate\n", + " definition of HP:0031046 (Absent soft palate)\n", + " \n", + " \n", + " Absent spinous processes of lower thoracic and lumbar vertebrae\n", + " definition of HP:0008464 (Absent spinous processes of lower thoracic and lumbar vertebrae)\n", + " \n", + " \n", + " Increased globoside Gb3 level\n", + " definition of HP:0410368 (Increased globoside Gb3 level)\n", + " \n", + " \n", + " An abnormal increase in the concentration of glycolipid globoside Gb3.\n", + " definition of HP:0410368 (Increased globoside Gb3 level)\n", + " \n", + " \n", + " #Increased globoside Gb3 concentration\n", + " definition of HP:0410368 (Increased globoside Gb3 level)\n", + " \n", + " \n", + " Decreased fumarate hydratase activity\n", + " definition of HP:0003536 (Decreased fumarate hydratase activity)\n", + " \n", + " \n", + " An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of fumarate hydratase activity.\n", + " definition of HP:0003536 (Decreased fumarate hydratase activity)\n", + " \n", + " \n", + " Retinal cotton wool spot\n", + " definition of HP:0031606 (Retinal cotton wool spot)\n", + " \n", + " \n", + " Fluffy white patch on the retina, representing localized areas of dense white swelling of the retinal nerve fiber layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels.\n", + " definition of HP:0031606 (Retinal cotton wool spot)\n", + " \n", + " \n", + " Hydrocolpos\n", + " definition of HP:0030711 (Hydrocolpos)\n", + " \n", + " \n", + " Distention of the vagina caused by accumulation of fluid due to congenital vaginal obstruction.\n", + " definition of HP:0030711 (Hydrocolpos)\n", + " \n", + " \n", + " Abnormal mediastinum morphology\n", + " definition of HP:0045026 (Abnormal mediastinum morphology)\n", + " \n", + " \n", + " Any structural anomaly of the central compartment of the thoracic cavity.\n", + " definition of HP:0045026 (Abnormal mediastinum morphology)\n", + " \n", + " \n", + " #Abnormality of the mediastinum\n", + " definition of HP:0045026 (Abnormal mediastinum morphology)\n", + " \n", + " \n", + " Increased erythrocyte UDP glucose-4-epimerase concentration\n", + " definition of HP:0410197 (Increased erythrocyte UDP glucose-4-epimerase concentration)\n", + " \n", + " \n", + " An increase in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.\n", + " definition of HP:0410197 (Increased erythrocyte UDP glucose-4-epimerase concentration)\n", + " \n", + " \n", + " #Increased UDP-glucose 4-epimerase level in RBCs #Increased UDP-glucose 4-epimerase level in red blood cells #Increased uridine diphosphate glucose-4-epimerase level in red blood cells\n", + " definition of HP:0410197 (Increased erythrocyte UDP glucose-4-epimerase concentration)\n", + " \n", + " \n", + " Abnormality of alkaline phosphatase level\n", + " definition of HP:0004379 (Abnormality of alkaline phosphatase level)\n", + " \n", + " \n", + " An abnormality of alkaline phosphatase level.\n", + " definition of HP:0004379 (Abnormality of alkaline phosphatase level)\n", + " \n", + " \n", + " #Abnormality of alkaline phosphatase activity #Abnormality of ALP level\n", + " definition of HP:0004379 (Abnormality of alkaline phosphatase level)\n", + " \n", + " \n", + " Abnormally low-pitched voice\n", + " definition of HP:0010300 (Abnormally low-pitched voice)\n", + " \n", + " \n", + " A persistent (minutes to hours) abnormal decrease in the pitch of the voice for the context or social situation or significantly different from the baseline of the individual.\n", + " definition of HP:0010300 (Abnormally low-pitched voice)\n", + " \n", + " \n", + " #Low pitched voice #Low-pitched voice\n", + " definition of HP:0010300 (Abnormally low-pitched voice)\n", + " \n", + " \n", + " Absent sebaceous glands\n", + " definition of HP:0410400 (Absent sebaceous glands)\n", + " \n", + " \n", + " Absence of the sebaceous gland, the holocrine gland that secretes sebum into the hair follicles, or in hairless areas into ducts.\n", + " definition of HP:0410400 (Absent sebaceous glands)\n", + " \n", + " \n", + " #Absence of sebaceous glands\n", + " definition of HP:0410400 (Absent sebaceous glands)\n", + " \n", + " \n", + " Facial edema\n", + " definition of HP:0000282 (Facial edema)\n", + " \n", + " \n", + " #Facial oedema #Facial puffiness #Facial swelling\n", + " definition of HP:0000282 (Facial edema)\n", + " \n", + " \n", + " Anomalous origin of left subclavian artery\n", + " definition of HP:0031253 (Anomalous origin of left subclavian artery)\n", + " \n", + " \n", + " Origin of the left subclavian artery from an anomalous anatomical location.\n", + " definition of HP:0031253 (Anomalous origin of left subclavian artery)\n", + " \n", + " \n", + " Ductus venosus agenesis with extrahepatic drainage and liver bypass\n", + " definition of HP:6000370 (Ductus venosus agenesis with extrahepatic drainage and liver bypass)\n", + " \n", + " \n", + " A form of ductus venosus agenesis in which umbilical vein does not connect to the portal venous system. The liver is bypassed and the umbilical vein drains into a systemic vein such as the inferior vena cava. This variant has been reported to have an unfavorable prognosis due to a presumed association with congestive heart failure and hydrops.\n", + " definition of HP:6000370 (Ductus venosus agenesis with extrahepatic drainage and liver bypass)\n", + " \n", + " \n", + " Reduced leukocyte steroid sulfatase activity\n", + " definition of HP:0034862 (Reduced leukocyte steroid sulfatase activity)\n", + " \n", + " \n", + " Concentration or activity of an arylsulfatase C as measured in leukocytes is below the limits of normal.\n", + " definition of HP:0034862 (Reduced leukocyte steroid sulfatase activity)\n", + " \n", + " \n", + " #Reduced leukocyte arylsulfatase C activity\n", + " definition of HP:0034862 (Reduced leukocyte steroid sulfatase activity)\n", + " \n", + " \n", + " Affective epileptic aura\n", + " definition of HP:0012003 (Affective epileptic aura)\n", + " \n", + " \n", + " Affective auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context.\n", + " definition of HP:0012003 (Affective epileptic aura)\n", + " \n", + " \n", + " #Affective aura #Affective auras #Emotional aura\n", + " definition of HP:0012003 (Affective epileptic aura)\n", + " \n", + " \n", + " Excessive wrinkling of palmar skin\n", + " definition of HP:0007605 (Excessive wrinkling of palmar skin)\n", + " \n", + " \n", + " #Redundant, wrinkled skin of palms\n", + " definition of HP:0007605 (Excessive wrinkling of palmar skin)\n", + " \n", + " \n", + " Abnormal long bone morphology\n", + " definition of HP:0011314 (Abnormal long bone morphology)\n", + " \n", + " \n", + " An abnormality of size or shape of the long bones.\n", + " definition of HP:0011314 (Abnormal long bone morphology)\n", + " \n", + " \n", + " #Abnormal shape of long bone #Abnormality of long bone morphology #Abnormality of the tubular bones\n", + " definition of HP:0011314 (Abnormal long bone morphology)\n", + " \n", + " \n", + " Reduced intraepidermal small nerve fiber density\n", + " definition of HP:0034997 (Reduced intraepidermal small nerve fiber density)\n", + " \n", + " \n", + " Reduced number of small nerve fibers in the skin.\n", + " definition of HP:0034997 (Reduced intraepidermal small nerve fiber density)\n", + " \n", + " \n", + " Yellow papule\n", + " definition of HP:0025507 (Yellow papule)\n", + " \n", + " \n", + " A papule with yellow color.\n", + " definition of HP:0025507 (Yellow papule)\n", + " \n", + " \n", + " Irregular epiphyses of the 4th toe\n", + " definition of HP:0100071 (Irregular epiphyses of the 4th toe)\n", + " \n", + " \n", + " #Irregular end part of the 4th toe bone\n", + " definition of HP:0100071 (Irregular epiphyses of the 4th toe)\n", + " \n", + " \n", + " Triggered by anesthetics\n", + " definition of HP:0500261 (Triggered by anesthetics)\n", + " \n", + " \n", + " Applies to a sign or symptom that is provoked or brought about by exposure to anesthetics.\n", + " definition of HP:0500261 (Triggered by anesthetics)\n", + " \n", + " \n", + " #Anaesthetics trigger episodes #Anaesthetics triggered symptoms #Anesthetics trigger episodes #Anesthetics triggered symptoms #Triggered by anaesthetics\n", + " definition of HP:0500261 (Triggered by anesthetics)\n", + " \n", + " \n", + " Increased circulating galectin-3 level\n", + " definition of HP:0032205 (Increased circulating galectin-3 level)\n", + " \n", + " \n", + " An increased circulation of galectin-3 in the blood circulation.\n", + " definition of HP:0032205 (Increased circulating galectin-3 level)\n", + " \n", + " \n", + " Premature atrial contractions\n", + " definition of HP:0006699 (Premature atrial contractions)\n", + " \n", + " \n", + " A type of cardiac arrhythmia with premature atrial contractions or beats caused by signals originating from ectopic atrial sites.\n", + " definition of HP:0006699 (Premature atrial contractions)\n", + " \n", + " \n", + " #Atrial ectopic beats #Atrial premature complex #Ectopic supraventricular rhythms #PACs #Premature supraventricular beats\n", + " definition of HP:0006699 (Premature atrial contractions)\n", + " \n", + " \n", + " Mitral opening snap\n", + " definition of HP:6000685 (Mitral opening snap)\n", + " \n", + " \n", + " Opening snap is an additional sound heard in the diastole that is related to the opening of a stenotic but mobile mitral valve. It is described as an early diastolic, high-pitched sound, which is associated with opening of the mitral and/or tricuspid valve.\n", + " definition of HP:6000685 (Mitral opening snap)\n", + " \n", + " \n", + " Positive CSF JC-virus antibody positivity\n", + " definition of HP:6000928 (Positive CSF JC-virus antibody positivity)\n", + " \n", + " \n", + " The presence of antibodies in the cerebrospinal fluid (CSF) that react against a component of JC-virus (also known as JC-polyomavirus and John Cunningham virus).\n", + " definition of HP:6000928 (Positive CSF JC-virus antibody positivity)\n", + " \n", + " \n", + " #Positive CSF JC-polyomavirus antibody positivity\n", + " definition of HP:6000928 (Positive CSF JC-virus antibody positivity)\n", + " \n", + " \n", + " Paraganglioma of head and neck\n", + " definition of HP:0002864 (Paraganglioma of head and neck)\n", + " \n", + " \n", + " #Paragangliomas, head and neck\n", + " definition of HP:0002864 (Paraganglioma of head and neck)\n", + " \n", + " \n", + " High iliac wing\n", + " definition of HP:0008808 (High iliac wing)\n", + " \n", + " \n", + " Increased height of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally).\n", + " definition of HP:0008808 (High iliac wing)\n", + " \n", + " \n", + " #High iliac wings #Narrow, high iliac wings\n", + " definition of HP:0008808 (High iliac wing)\n", + " \n", + " \n", + " Neurofibroma\n", + " definition of HP:0001067 (Neurofibroma)\n", + " \n", + " \n", + " A benign peripheral nerve sheath tumor that generally appears as a soft, skin-colored papule or small subcutaneous nodule. Individuals with neurofibromatosis can have numerous neurofibromas.\n", + " definition of HP:0001067 (Neurofibroma)\n", + " \n", + " \n", + " #Neurofibromata #Neurofibromatosis\n", + " definition of HP:0001067 (Neurofibroma)\n", + " \n", + " \n", + " Neonatal focal tonic seizure\n", + " definition of HP:0032824 (Neonatal focal tonic seizure)\n", + " \n", + " \n", + " Neonatal focal tonic seizure is a type of neonatal electro-clinical tonic seizure with a focal sustained increase in muscle tone, lasting a few seconds to minutes.\n", + " definition of HP:0032824 (Neonatal focal tonic seizure)\n", + " \n", + " \n", + " Calcaneonavicular fusion\n", + " definition of HP:0008122 (Calcaneonavicular fusion)\n", + " \n", + " \n", + " Synostosis of the calcaneus with the navicular bone.\n", + " definition of HP:0008122 (Calcaneonavicular fusion)\n", + " \n", + " \n", + " Laterally deficient tibial plateaux\n", + " definition of HP:0003833 (Laterally deficient tibial plateaux)\n", + " \n", + " \n", + " Anti-factor IX antibody positivity\n", + " definition of HP:6000495 (Anti-factor IX antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against factor IX.\n", + " definition of HP:6000495 (Anti-factor IX antibody positivity)\n", + " \n", + " \n", + " #Anti-FIX antibody positivity\n", + " definition of HP:6000495 (Anti-factor IX antibody positivity)\n", + " \n", + " \n", + " Prolonged bleeding time\n", + " definition of HP:0003010 (Prolonged bleeding time)\n", + " \n", + " \n", + " Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding.\n", + " definition of HP:0003010 (Prolonged bleeding time)\n", + " \n", + " \n", + " #Increased bleeding time #Prolonged bleeding time\n", + " definition of HP:0003010 (Prolonged bleeding time)\n", + " \n", + " \n", + " Fractured lateral malleolus of fibula\n", + " definition of HP:0041210 (Fractured lateral malleolus of fibula)\n", + " \n", + " \n", + " A partial or complete breakage of the lateral malleolus of fibula.\n", + " definition of HP:0041210 (Fractured lateral malleolus of fibula)\n", + " \n", + " \n", + " #bone lateral malleolus of fibula\n", + " definition of HP:0041210 (Fractured lateral malleolus of fibula)\n", + " \n", + " \n", + " Binucleated visceral epithelial cells\n", + " definition of HP:0033296 (Binucleated visceral epithelial cells)\n", + " \n", + " \n", + " Visceral epithelial cells with 2 nuclei. Can be observed on light or ultrastructral microscopy.\n", + " definition of HP:0033296 (Binucleated visceral epithelial cells)\n", + " \n", + " \n", + " #Binucleated podocytes\n", + " definition of HP:0033296 (Binucleated visceral epithelial cells)\n", + " \n", + " \n", + " Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology\n", + " definition of HP:0030334 (Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology)\n", + " \n", + " \n", + " A structural anomaly of a CD4-positive, CD25-positive, alpha-beta T cell. These cells are regulatory T cells.\n", + " definition of HP:0030334 (Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology)\n", + " \n", + " \n", + " Hypoplasia of first ribs\n", + " definition of HP:0006657 (Hypoplasia of first ribs)\n", + " \n", + " \n", + " #Hypoplastic first rib #Hypoplastic first ribs #Small first rib #Underdeveloped first rib\n", + " definition of HP:0006657 (Hypoplasia of first ribs)\n", + " \n", + " \n", + " Hypocapnia\n", + " definition of HP:0012417 (Hypocapnia)\n", + " \n", + " \n", + " Abnormally reduced blood carbon dioxide (CO2) level.\n", + " definition of HP:0012417 (Hypocapnia)\n", + " \n", + " \n", + " #Hypocarbia #Reduced carbon dioxide in the blood\n", + " definition of HP:0012417 (Hypocapnia)\n", + " \n", + " \n", + " Spastic gait\n", + " definition of HP:0002064 (Spastic gait)\n", + " \n", + " \n", + " Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg.\n", + " definition of HP:0002064 (Spastic gait)\n", + " \n", + " \n", + " #Spastic walk\n", + " definition of HP:0002064 (Spastic gait)\n", + " \n", + " \n", + " Lethal infantile mitochondrial myopathy\n", + " definition of HP:0009069 (Lethal infantile mitochondrial myopathy)\n", + " \n", + " \n", + " Cutaneous wound\n", + " definition of HP:0032674 (Cutaneous wound)\n", + " \n", + " \n", + " A cutaneous wound is a defined as a disruption of normal anatomic structure and function of the skin that occurs owing to an injury of the skin. Wound healing is a dynamic, interactive process involving soluble mediators, blood cells, extracellularmatrix, and parenchymal cells. Wound healing has three phases: inflammation, tissue formation, and tissue remodeling, that overlap in time.\n", + " definition of HP:0032674 (Cutaneous wound)\n", + " \n", + " \n", + " #Skin wound\n", + " definition of HP:0032674 (Cutaneous wound)\n", + " \n", + " \n", + " Enlarged epiphysis of the proximal phalanx of the 2nd toe\n", + " definition of HP:0100125 (Enlarged epiphysis of the proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Enlarged end part of the innermost bone of the 2nd toe\n", + " definition of HP:0100125 (Enlarged epiphysis of the proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Nonfunctional or atypical use of objects in play\n", + " definition of HP:5200108 (Nonfunctional or atypical use of objects in play)\n", + " \n", + " \n", + " Use of objects in atypical, unimaginitive ways other than for which they are intended (banging, throwing, shaking, sorting, lining up, spinning).\n", + " definition of HP:5200108 (Nonfunctional or atypical use of objects in play)\n", + " \n", + " \n", + " Defective interstrand cross-link repair\n", + " definition of HP:0410166 (Defective interstrand cross-link repair)\n", + " \n", + " \n", + " A defect in the of the process of interstrand cross-link repair: removal of a DNA interstrand crosslink (a covalent attachment of DNA bases on opposite strands of the DNA) and restoration of the DNA. DNA interstrand crosslinks occur when both strands of duplex DNA are covalently tethered together (e.g. by an exogenous or endogenous agent), thus preventing the strand unwinding necessary for essential DNA functions such as transcription and replication.\n", + " definition of HP:0410166 (Defective interstrand cross-link repair)\n", + " \n", + " \n", + " Abnormality of cerebrosidase metabolism\n", + " definition of HP:0004344 (Abnormality of cerebrosidase metabolism)\n", + " \n", + " \n", + " Abnormal circulating organic amino compound concentration\n", + " definition of HP:0033405 (Abnormal circulating organic amino compound concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of an organic amino compound, defined as a compound formally derived from ammonia by replacing one, two or three hydrogen atoms by organyl groups.\n", + " definition of HP:0033405 (Abnormal circulating organic amino compound concentration)\n", + " \n", + " \n", + " Cluster headache\n", + " definition of HP:0012199 (Cluster headache)\n", + " \n", + " \n", + " A type of headache characterized by repeated attacks of unilateral pain lasting 15 to 180 minutes and associated with local autonomic signs.\n", + " definition of HP:0012199 (Cluster headache)\n", + " \n", + " \n", + " Unilateral brachydactyly\n", + " definition of HP:0006008 (Unilateral brachydactyly)\n", + " \n", + " \n", + " Focal T2 hypointense thalamic lesion\n", + " definition of HP:0012691 (Focal T2 hypointense thalamic lesion)\n", + " \n", + " \n", + " A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hypointensity affecting a particular region of the thalamus.\n", + " definition of HP:0012691 (Focal T2 hypointense thalamic lesion)\n", + " \n", + " \n", + " Single interphalangeal crease of fifth finger\n", + " definition of HP:0006216 (Single interphalangeal crease of fifth finger)\n", + " \n", + " \n", + " Presence of only one (instead of two, as normal) interphalangeal crease of the fifth finger.\n", + " definition of HP:0006216 (Single interphalangeal crease of fifth finger)\n", + " \n", + " \n", + " #Fifth finger single interphalangeal crease\n", + " definition of HP:0006216 (Single interphalangeal crease of fifth finger)\n", + " \n", + " \n", + " Encysted hydrocele of the cord\n", + " definition of HP:4000036 (Encysted hydrocele of the cord)\n", + " \n", + " \n", + " A type of hydrocele testis in which both the proximal and distal portions of processus vaginalis get obliterated while the central portion remains patent and fluid accumulates within it.\n", + " definition of HP:4000036 (Encysted hydrocele of the cord)\n", + " \n", + " \n", + " Decreased skull ossification\n", + " definition of HP:0004331 (Decreased skull ossification)\n", + " \n", + " \n", + " A reduction in the magnitude or amount of ossification of the skull.\n", + " definition of HP:0004331 (Decreased skull ossification)\n", + " \n", + " \n", + " #Decreased bone formation of skull #Deficient skull ossification #Hypoossification of skull #Ossification defect of skull #Poorly mineralized skull #Poorly ossified skull #Poorly ossified skull bones\n", + " definition of HP:0004331 (Decreased skull ossification)\n", + " \n", + " \n", + " Gastric fluid xenobiotic\n", + " definition of HP:0500101 (Gastric fluid xenobiotic)\n", + " \n", + " \n", + " Presence of a xenobiotic in gastric fluid.\n", + " definition of HP:0500101 (Gastric fluid xenobiotic)\n", + " \n", + " \n", + " Naevus flammeus of the eyelid\n", + " definition of HP:0010733 (Naevus flammeus of the eyelid)\n", + " \n", + " \n", + " Naevus flammeus localized in the skin of the eyelid.\n", + " definition of HP:0010733 (Naevus flammeus of the eyelid)\n", + " \n", + " \n", + " #Port-wine stain on eyelid\n", + " definition of HP:0010733 (Naevus flammeus of the eyelid)\n", + " \n", + " \n", + " Abnormal atrial septum morphology\n", + " definition of HP:0011994 (Abnormal atrial septum morphology)\n", + " \n", + " \n", + " An abnormality of the interatrial septum.\n", + " definition of HP:0011994 (Abnormal atrial septum morphology)\n", + " \n", + " \n", + " #Abnormal interatrial septum morphology #Abnormality of the atrial septum\n", + " definition of HP:0011994 (Abnormal atrial septum morphology)\n", + " \n", + " \n", + " Partial duplication of the middle phalanx of the 5th toe\n", + " definition of HP:0100421 (Partial duplication of the middle phalanx of the 5th toe)\n", + " \n", + " \n", + " Partial duplication of the middle phalanx of the 5th toe.\n", + " definition of HP:0100421 (Partial duplication of the middle phalanx of the 5th toe)\n", + " \n", + " \n", + " #Partial duplication of the middle bone of the little toe #Partial duplication of the middle bone of the pinkie toe #Partial duplication of the middle bone of the pinky toe #Partial duplication of the middle phalanx of the fifth toe\n", + " definition of HP:0100421 (Partial duplication of the middle phalanx of the 5th toe)\n", + " \n", + " \n", + " Hypercholesterolemia\n", + " definition of HP:0003124 (Hypercholesterolemia)\n", + " \n", + " \n", + " An increased concentration of cholesterol in the blood.\n", + " definition of HP:0003124 (Hypercholesterolemia)\n", + " \n", + " \n", + " #Elevated serum cholesterol #Elevated total cholesterol #Increased total cholesterol\n", + " definition of HP:0003124 (Hypercholesterolemia)\n", + " \n", + " \n", + " Decreased serum estradiol\n", + " definition of HP:0008214 (Decreased serum estradiol)\n", + " \n", + " \n", + " A reduction below normal concentration of estradiol in the circulation.\n", + " definition of HP:0008214 (Decreased serum estradiol)\n", + " \n", + " \n", + " #Decreased serum estradiol\n", + " definition of HP:0008214 (Decreased serum estradiol)\n", + " \n", + " \n", + " Dermatan sulfate excretion in urine\n", + " definition of HP:0008301 (Dermatan sulfate excretion in urine)\n", + " \n", + " \n", + " An increased concentration of dermatan sulfate in the urine.\n", + " definition of HP:0008301 (Dermatan sulfate excretion in urine)\n", + " \n", + " \n", + " #Dermatan sulphate excretion in urine\n", + " definition of HP:0008301 (Dermatan sulfate excretion in urine)\n", + " \n", + " \n", + " Anti-phosphatidyl ethanolamine antibody positivity\n", + " definition of HP:0034084 (Anti-phosphatidyl ethanolamine antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl ethanolamine.\n", + " definition of HP:0034084 (Anti-phosphatidyl ethanolamine antibody positivity)\n", + " \n", + " \n", + " Vascular compression of the eighth cranial nerve\n", + " definition of HP:6000845 (Vascular compression of the eighth cranial nerve)\n", + " \n", + " \n", + " A condition in which blood vessels adjacent to the eighth cranial nerve (vestibulocochlear nerve) such as the anterior inferior cerebellar artery abnormally contact or compress the vestibulocochlear nerve as it exits the brainstem or travels within the cerebellopontine angle.\n", + " definition of HP:6000845 (Vascular compression of the eighth cranial nerve)\n", + " \n", + " \n", + " #Neurovascular compression syndrome of the vestibulocochlear nerve #Vestibulocochlear nerve compression syndrome\n", + " definition of HP:6000845 (Vascular compression of the eighth cranial nerve)\n", + " \n", + " \n", + " Fragmentation of the epiphysis of the proximal phalanx of the 3rd toe\n", + " definition of HP:0100161 (Fragmentation of the epiphysis of the proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Fragmentation of the end part of the innermost bone of the 3rd toe\n", + " definition of HP:0100161 (Fragmentation of the epiphysis of the proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Hypokalemia\n", + " definition of HP:0002900 (Hypokalemia)\n", + " \n", + " \n", + " An abnormally decreased potassium concentration in the blood.\n", + " definition of HP:0002900 (Hypokalemia)\n", + " \n", + " \n", + " #Low blood potassium levels\n", + " definition of HP:0002900 (Hypokalemia)\n", + " \n", + " \n", + " Adrenocorticotropic hormone deficiency\n", + " definition of HP:0011748 (Adrenocorticotropic hormone deficiency)\n", + " \n", + " \n", + " A reduced ability to secrete adrenocorticotropic hormone (ACTH), a hormone that stimulates the adrenal cortex to secrete of glucocorticoids such as cortisol.\n", + " definition of HP:0011748 (Adrenocorticotropic hormone deficiency)\n", + " \n", + " \n", + " #ACTH deficiency #Corticotropin deficiency\n", + " definition of HP:0011748 (Adrenocorticotropic hormone deficiency)\n", + " \n", + " \n", + " Facial-lingual fasciculations\n", + " definition of HP:0007089 (Facial-lingual fasciculations)\n", + " \n", + " \n", + " Fasciculations affecting the tongue muscle and the musculature of the face.\n", + " definition of HP:0007089 (Facial-lingual fasciculations)\n", + " \n", + " \n", + " Cautious gait\n", + " definition of HP:0031953 (Cautious gait)\n", + " \n", + " \n", + " Cautious gait refers to an excessive degree of age-related changes in walking and fear of falling. The walking difficulties seem out of proportion when considering the patient's actual sensory or motor deficits. The gait appears slow, with a wider base than normal, reduced arm swing bilaterally and a slightly stooped posture. This type of gait change often occurs after the first time a patient has fallen.\n", + " definition of HP:0031953 (Cautious gait)\n", + " \n", + " \n", + " #Senile gait\n", + " definition of HP:0031953 (Cautious gait)\n", + " \n", + " \n", + " Small epiphysis of the proximal phalanx of the thumb\n", + " definition of HP:0009672 (Small epiphysis of the proximal phalanx of the thumb)\n", + " \n", + " \n", + " Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the thumb with respect to age-dependent norms.\n", + " definition of HP:0009672 (Small epiphysis of the proximal phalanx of the thumb)\n", + " \n", + " \n", + " #Small end part of thumb innermost long bone\n", + " definition of HP:0009672 (Small epiphysis of the proximal phalanx of the thumb)\n", + " \n", + " \n", + " Arteriosclerosis\n", + " definition of HP:0002634 (Arteriosclerosis)\n", + " \n", + " \n", + " Sclerosis (hardening) of the arteries with increased thickness of the wall of arteries as well as increased stiffness and a loss of elasticity.\n", + " definition of HP:0002634 (Arteriosclerosis)\n", + " \n", + " \n", + " Hyperacusis\n", + " definition of HP:0010780 (Hyperacusis)\n", + " \n", + " \n", + " Over-sensitivity to certain frequency ranges of sound.\n", + " definition of HP:0010780 (Hyperacusis)\n", + " \n", + " \n", + " Osteomyelitis\n", + " definition of HP:0002754 (Osteomyelitis)\n", + " \n", + " \n", + " Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism.\n", + " definition of HP:0002754 (Osteomyelitis)\n", + " \n", + " \n", + " #Bone infection\n", + " definition of HP:0002754 (Osteomyelitis)\n", + " \n", + " \n", + " Vestibular nystagmus\n", + " definition of HP:0010542 (Vestibular nystagmus)\n", + " \n", + " \n", + " Nystagmus due to disturbance of the vestibular system; eye movements are rhythmic, with slow and fast components.\n", + " definition of HP:0010542 (Vestibular nystagmus)\n", + " \n", + " \n", + " Perianal dermatitis\n", + " definition of HP:0011131 (Perianal dermatitis)\n", + " \n", + " \n", + " The presence of a rash (change of color and texture) of the perianal skin.\n", + " definition of HP:0011131 (Perianal dermatitis)\n", + " \n", + " \n", + " #Perianal rash\n", + " definition of HP:0011131 (Perianal dermatitis)\n", + " \n", + " \n", + " Frontoethmoidal meningocele\n", + " definition of HP:0030729 (Frontoethmoidal meningocele)\n", + " \n", + " \n", + " A herniation of meninges through a congenital bone defect in the skull at the junction of the frontal and ethmoidal bones.\n", + " definition of HP:0030729 (Frontoethmoidal meningocele)\n", + " \n", + " \n", + " #Frontoethmoid meningocele\n", + " definition of HP:0030729 (Frontoethmoidal meningocele)\n", + " \n", + " \n", + " Cholesterol crystalluria\n", + " definition of HP:0020176 (Cholesterol crystalluria)\n", + " \n", + " \n", + " The presence of cholesterol crystals in the urine.\n", + " definition of HP:0020176 (Cholesterol crystalluria)\n", + " \n", + " \n", + " Abnormal nonverbal communicative behavior\n", + " definition of HP:0000758 (Abnormal nonverbal communicative behavior)\n", + " \n", + " \n", + " Abnormalities in eye contact, communicative facial expressions, gesture use, or the use of others' bodies to communicate convey shared meanings within a culture that replace or supplement verbal communication.\n", + " definition of HP:0000758 (Abnormal nonverbal communicative behavior)\n", + " \n", + " \n", + " #Abnormal nonverbal communicative behavior #Impaired use of nonverbal behaviors #Impaired use of nonverbal behaviours\n", + " definition of HP:0000758 (Abnormal nonverbal communicative behavior)\n", + " \n", + " \n", + " Abnormal Humphrey SITA 10-2 perimetry test\n", + " definition of HP:0030598 (Abnormal Humphrey SITA 10-2 perimetry test)\n", + " \n", + " \n", + " Polymenorrhea\n", + " definition of HP:0400007 (Polymenorrhea)\n", + " \n", + " \n", + " Frequent menses; menstrual cycles lasting less than 21 days.\n", + " definition of HP:0400007 (Polymenorrhea)\n", + " \n", + " \n", + " Lung fibroma\n", + " definition of HP:0010616 (Lung fibroma)\n", + " \n", + " \n", + " The presence of a lung fibroma, a benign neoplasm that can present as a mass causing airway obstruction, cough, and hemoptysis, or present without symptoms as a solitary pulmonary nodule.\n", + " definition of HP:0010616 (Lung fibroma)\n", + " \n", + " \n", + " Anti-U1 ribonucleoprotein antibody positivity\n", + " definition of HP:0033028 (Anti-U1 ribonucleoprotein antibody positivity)\n", + " \n", + " \n", + " The presence autoantibodies in the serum that react to proteins (70 Kd, A, C) that are associated with U1 RNA and form U1snRNP.\n", + " definition of HP:0033028 (Anti-U1 ribonucleoprotein antibody positivity)\n", + " \n", + " \n", + " #Anti-RNP-antibodies #Anti-U1-RNP antibody positivity\n", + " definition of HP:0033028 (Anti-U1 ribonucleoprotein antibody positivity)\n", + " \n", + " \n", + " Cartilaginous tracheobronchomalacia\n", + " definition of HP:0033990 (Cartilaginous tracheobronchomalacia)\n", + " \n", + " \n", + " Softening of the tracheal and/or bronchial cartilage resulting in segmental tracheal and/or bronchial weakness.\n", + " definition of HP:0033990 (Cartilaginous tracheobronchomalacia)\n", + " \n", + " \n", + " #Cartilaginous malacia\n", + " definition of HP:0033990 (Cartilaginous tracheobronchomalacia)\n", + " \n", + " \n", + " Increased glomerular filtration rate\n", + " definition of HP:0012214 (Increased glomerular filtration rate)\n", + " \n", + " \n", + " An abnormal rise in the volume of water filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time.\n", + " definition of HP:0012214 (Increased glomerular filtration rate)\n", + " \n", + " \n", + " #Increased GFR\n", + " definition of HP:0012214 (Increased glomerular filtration rate)\n", + " \n", + " \n", + " Aplasia/Hypoplasia involving the vertebral column\n", + " definition of HP:0008518 (Aplasia/Hypoplasia involving the vertebral column)\n", + " \n", + " \n", + " #Absent/small backbone #Absent/small spine #Absent/small vertebral column #Absent/underdeveloped backbone #Absent/underdeveloped spine #Absent/underdeveloped vertebral column\n", + " definition of HP:0008518 (Aplasia/Hypoplasia involving the vertebral column)\n", + " \n", + " \n", + " Short-segment aganglionic megacolon\n", + " definition of HP:0011284 (Short-segment aganglionic megacolon)\n", + " \n", + " \n", + " A type of aganglionic megacolon in which the aganglionic segment does not extend beyond the upper sigmoid.\n", + " definition of HP:0011284 (Short-segment aganglionic megacolon)\n", + " \n", + " \n", + " Metacarpal osteolysis\n", + " definition of HP:0001504 (Metacarpal osteolysis)\n", + " \n", + " \n", + " #Metacarpals osteolysis\n", + " definition of HP:0001504 (Metacarpal osteolysis)\n", + " \n", + " \n", + " Short thumb\n", + " definition of HP:0009778 (Short thumb)\n", + " \n", + " \n", + " Hypoplasia (congenital reduction in size) of the thumb.\n", + " definition of HP:0009778 (Short thumb)\n", + " \n", + " \n", + " #Hypoplastic thumb #Hypoplastic thumbs #Hypoplastic/small thumb #Short thumb #Short thumbs #Small thumbs #Thumb brachydactyly #Thumb hypoplasia\n", + " definition of HP:0009778 (Short thumb)\n", + " \n", + " \n", + " Neoplasm of the eye\n", + " definition of HP:0100012 (Neoplasm of the eye)\n", + " \n", + " \n", + " A tumor (abnormal growth of tissue) of the eye.\n", + " definition of HP:0100012 (Neoplasm of the eye)\n", + " \n", + " \n", + " #Eye tumor #Eye tumour\n", + " definition of HP:0100012 (Neoplasm of the eye)\n", + " \n", + " \n", + " Reduced blood folate concentration\n", + " definition of HP:0100507 (Reduced blood folate concentration)\n", + " \n", + " \n", + " A reduced circulating concentration of folic acid, which is also known as vitamin B9.\n", + " definition of HP:0100507 (Reduced blood folate concentration)\n", + " \n", + " \n", + " #Folate deficiency #Vitamin B9 deficiency\n", + " definition of HP:0100507 (Reduced blood folate concentration)\n", + " \n", + " \n", + " Bullet-shaped distal phalanx of the 4th finger\n", + " definition of HP:0009302 (Bullet-shaped distal phalanx of the 4th finger)\n", + " \n", + " \n", + " Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 4th finger is affected.\n", + " definition of HP:0009302 (Bullet-shaped distal phalanx of the 4th finger)\n", + " \n", + " \n", + " #Bullet-shaped outermost bone of ring finger\n", + " definition of HP:0009302 (Bullet-shaped distal phalanx of the 4th finger)\n", + " \n", + " \n", + " Absent forearm\n", + " definition of HP:0005632 (Absent forearm)\n", + " \n", + " \n", + " #Absent forearm\n", + " definition of HP:0005632 (Absent forearm)\n", + " \n", + " \n", + " Lateral clavicle hook\n", + " definition of HP:0000895 (Lateral clavicle hook)\n", + " \n", + " \n", + " An excessive upward convexity of the lateral clavicle.\n", + " definition of HP:0000895 (Lateral clavicle hook)\n", + " \n", + " \n", + " #Handlebar clavicle #Hook-shaped clavicle #Hook-shaped collarbone #Hooked clavicle\n", + " definition of HP:0000895 (Lateral clavicle hook)\n", + " \n", + " \n", + " Laeden paralysis\n", + " definition of HP:5200267 (Laeden paralysis)\n", + " \n", + " \n", + " The sensation of having heavy arms and legs, or feeling a heaviness in the limbs.\n", + " definition of HP:5200267 (Laeden paralysis)\n", + " \n", + " \n", + " Diminishment of interpersonal communication\n", + " definition of HP:5200316 (Diminishment of interpersonal communication)\n", + " \n", + " \n", + " A reduction in the tendency of a person to share information or emotions compared to that person's previous norms.\n", + " definition of HP:5200316 (Diminishment of interpersonal communication)\n", + " \n", + " \n", + " #A decline or reduced social expression and social connectedness #Decreased interpersonal communication\n", + " definition of HP:5200316 (Diminishment of interpersonal communication)\n", + " \n", + " \n", + " Abnormal syntax\n", + " definition of HP:0025782 (Abnormal syntax)\n", + " \n", + " \n", + " Persistent abnormalities in sentence structure exceeding that of the context and background culture of the person.\n", + " definition of HP:0025782 (Abnormal syntax)\n", + " \n", + " \n", + " Short proximal phalanx of the 4th toe\n", + " definition of HP:0100396 (Short proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " Developmental hypoplasia of the proximal phalanx of fourth toe.\n", + " definition of HP:0100396 (Short proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " #Hypoplastic/small proximal phalanx of the 4th toe #Short fourth toe proximal phalanx #Short proximal phalanx of the fourth toe\n", + " definition of HP:0100396 (Short proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " Renal papillary necrosis\n", + " definition of HP:0032632 (Renal papillary necrosis)\n", + " \n", + " \n", + " Premature death of cells in the renal papilla (the apex of a renal pyramid which projects into the cavity of a calyx of the kidney and through which collecting ducts discharge urine). Histologically, one observes pale tissue with typical appearance of coagulative necrosis, affecting the renal papillae. Necrosis can be identified by pyknotic nuclei and simplified, flattened epithelium of proximal tubules. The tubular and glomerular basement membranes are still visible without viable nuclei.\n", + " definition of HP:0032632 (Renal papillary necrosis)\n", + " \n", + " \n", + " Distal symphalangism of hands\n", + " definition of HP:0001204 (Distal symphalangism of hands)\n", + " \n", + " \n", + " The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases.\n", + " definition of HP:0001204 (Distal symphalangism of hands)\n", + " \n", + " \n", + " #Fused outermost bones of hand #Symphalangism affecting the distal phalanges of the hand #Synostosis of distal phalanges #Terminal symphalangism\n", + " definition of HP:0001204 (Distal symphalangism of hands)\n", + " \n", + " \n", + " Bilateral sensorineural hearing impairment\n", + " definition of HP:0008619 (Bilateral sensorineural hearing impairment)\n", + " \n", + " \n", + " A bilateral form of sensorineural hearing impairment.\n", + " definition of HP:0008619 (Bilateral sensorineural hearing impairment)\n", + " \n", + " \n", + " #Bilateral nerve deafness #Bilateral sensorineural deafness #Bilateral sensorineural hearing loss #Hearing loss, sensorineural, bilateral\n", + " definition of HP:0008619 (Bilateral sensorineural hearing impairment)\n", + " \n", + " \n", + " Trophic limb changes\n", + " definition of HP:0003091 (Trophic limb changes)\n", + " \n", + " \n", + " Trophic changes occurring in a limb.\n", + " definition of HP:0003091 (Trophic limb changes)\n", + " \n", + " \n", + " Pulmonary lymphangiectasia\n", + " definition of HP:0006521 (Pulmonary lymphangiectasia)\n", + " \n", + " \n", + " Abnormal dilatation of the pulmonary lymphatic vessels. Lymphatic fluid in the lung is derived from normal leakage of fluid out of the blood capillaries in the lung. In pulmonary lymphangiectasia, the pulmonary lymphatics are not properly connected and become dilated with fluid.\n", + " definition of HP:0006521 (Pulmonary lymphangiectasia)\n", + " \n", + " \n", + " #Pulmonary lymphangiectasis\n", + " definition of HP:0006521 (Pulmonary lymphangiectasia)\n", + " \n", + " \n", + " Hyperserinemia\n", + " definition of HP:0500138 (Hyperserinemia)\n", + " \n", + " \n", + " An increased amount of serine in the blood.\n", + " definition of HP:0500138 (Hyperserinemia)\n", + " \n", + " \n", + " #Elevated circulating serine levels #High blood serine levels #Increased serine blood concentration\n", + " definition of HP:0500138 (Hyperserinemia)\n", + " \n", + " \n", + " Membranous choanal atresia\n", + " definition of HP:0011820 (Membranous choanal atresia)\n", + " \n", + " \n", + " Absence of the normal opening of the choana (the posterior nasal aperture) as a result of an obstructing choanal membrane that may be thin and strandlike or thick and pluglike.\n", + " definition of HP:0011820 (Membranous choanal atresia)\n", + " \n", + " \n", + " Abnormal femoral neck morphology\n", + " definition of HP:0003367 (Abnormal femoral neck morphology)\n", + " \n", + " \n", + " An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).\n", + " definition of HP:0003367 (Abnormal femoral neck morphology)\n", + " \n", + " \n", + " #Abnormal neck of thigh bone #Abnormality of the femoral neck\n", + " definition of HP:0003367 (Abnormal femoral neck morphology)\n", + " \n", + " \n", + " Squared iliac bones\n", + " definition of HP:0003177 (Squared iliac bones)\n", + " \n", + " \n", + " A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance.\n", + " definition of HP:0003177 (Squared iliac bones)\n", + " \n", + " \n", + " #Square iliac bones #Squaring of iliac bones\n", + " definition of HP:0003177 (Squared iliac bones)\n", + " \n", + " \n", + " Elevated urinary creatine level\n", + " definition of HP:0034598 (Elevated urinary creatine level)\n", + " \n", + " \n", + " An increased amount of creatine in the urine.\n", + " definition of HP:0034598 (Elevated urinary creatine level)\n", + " \n", + " \n", + " #Creatine high in urine\n", + " definition of HP:0034598 (Elevated urinary creatine level)\n", + " \n", + " \n", + " Abnormal superficial temporal artery morphology\n", + " definition of HP:0430104 (Abnormal superficial temporal artery morphology)\n", + " \n", + " \n", + " Any structural abnormality of a superficial temporal artery, originating from the external carotid artery and passing over the zygomatic process. The superficial temporal artery is located on the superficial parts of the forehead and sides of the head and face.\n", + " definition of HP:0430104 (Abnormal superficial temporal artery morphology)\n", + " \n", + " \n", + " Carpal bone malsegmentation\n", + " definition of HP:0005776 (Carpal bone malsegmentation)\n", + " \n", + " \n", + " Reduced tissue thymidine phosphorylase activity\n", + " definition of HP:6000570 (Reduced tissue thymidine phosphorylase activity)\n", + " \n", + " \n", + " Activity of thymidine phosphorylase (EC 2.4.2.4) in the tissues below the lower limit of normal. The activity can be measured in multiple tissues including leukocytes.\n", + " definition of HP:6000570 (Reduced tissue thymidine phosphorylase activity)\n", + " \n", + " \n", + " #Reduced leukocyte thymidine phosphorylase activity\n", + " definition of HP:6000570 (Reduced tissue thymidine phosphorylase activity)\n", + " \n", + " \n", + " Abnormal medullary pyramid morphology\n", + " definition of HP:0025361 (Abnormal medullary pyramid morphology)\n", + " \n", + " \n", + " A structural anomaly of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla.\n", + " definition of HP:0025361 (Abnormal medullary pyramid morphology)\n", + " \n", + " \n", + " #Abnormality of medullary pyramid morphology\n", + " definition of HP:0025361 (Abnormal medullary pyramid morphology)\n", + " \n", + " \n", + " Patchy sclerosis of 3rd toe phalanx\n", + " definition of HP:0010364 (Patchy sclerosis of 3rd toe phalanx)\n", + " \n", + " \n", + " Patchy (irregular) increase in bone density of one or more of the phalanges of the third toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.\n", + " definition of HP:0010364 (Patchy sclerosis of 3rd toe phalanx)\n", + " \n", + " \n", + " #Patchy sclerosis of the phalanges of the 3rd toe #Uneven increase in bone density in 3rd toe bone\n", + " definition of HP:0010364 (Patchy sclerosis of 3rd toe phalanx)\n", + " \n", + " \n", + " Male-limited expression\n", + " definition of HP:0001475 (Male-limited expression)\n", + " \n", + " \n", + " Used to refer to a monogenic trait linked to an autosomal locus in which the phenotypic effects of allelic differences are expressed only in the male sex.\n", + " definition of HP:0001475 (Male-limited expression)\n", + " \n", + " \n", + " Ivory epiphysis of the middle phalanx of the 4th toe\n", + " definition of HP:0100186 (Ivory epiphysis of the middle phalanx of the 4th toe)\n", + " \n", + " \n", + " #Increased bone density of end part of the middle bone of the 4th toe\n", + " definition of HP:0100186 (Ivory epiphysis of the middle phalanx of the 4th toe)\n", + " \n", + " \n", + " Rib spur\n", + " definition of HP:6000652 (Rib spur)\n", + " \n", + " \n", + " A bony projection (spur, osteophyte) originating from a rib.\n", + " definition of HP:6000652 (Rib spur)\n", + " \n", + " \n", + " Cortical dysplasia\n", + " definition of HP:0002539 (Cortical dysplasia)\n", + " \n", + " \n", + " The presence of developmental dysplasia of the cerebral cortex.\n", + " definition of HP:0002539 (Cortical dysplasia)\n", + " \n", + " \n", + " #Neocortical dysplasia\n", + " definition of HP:0002539 (Cortical dysplasia)\n", + " \n", + " \n", + " Alpha-aminoadipic aciduria\n", + " definition of HP:0410309 (Alpha-aminoadipic aciduria)\n", + " \n", + " \n", + " The concentration of alpha-aminoadipic acid in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:0410309 (Alpha-aminoadipic aciduria)\n", + " \n", + " \n", + " #2-aminoadipic aciduria\n", + " definition of HP:0410309 (Alpha-aminoadipic aciduria)\n", + " \n", + " \n", + " Obliterative abnormality of the renal glomerulus\n", + " definition of HP:0033215 (Obliterative abnormality of the renal glomerulus)\n", + " \n", + " \n", + " Addictive amphetamine use\n", + " definition of HP:0033514 (Addictive amphetamine use)\n", + " \n", + " \n", + " Addiction to amphetamine or dextroamphetamine is a serious concern.\n", + " definition of HP:0033514 (Addictive amphetamine use)\n", + " \n", + " \n", + " #Amphetamine addiction #Amphetamine dependence #Dextroamphetamine addiction #Dextroamphetamine dependence\n", + " definition of HP:0033514 (Addictive amphetamine use)\n", + " \n", + " \n", + " Ductal carcinoma in situ\n", + " definition of HP:0030075 (Ductal carcinoma in situ)\n", + " \n", + " \n", + " Presence of abnormal cells inside a milk duct, that is, non-invasive breast cancer. Ductal carcinoma in situ is considered to be a precursor lesion to invasive breast cancer.\n", + " definition of HP:0030075 (Ductal carcinoma in situ)\n", + " \n", + " \n", + " Dysgenesis of the basal ganglia\n", + " definition of HP:0025102 (Dysgenesis of the basal ganglia)\n", + " \n", + " \n", + " Structural abnormality of the basal ganglia related to defective development.\n", + " definition of HP:0025102 (Dysgenesis of the basal ganglia)\n", + " \n", + " \n", + " #Basal ganglia dysgenesis\n", + " definition of HP:0025102 (Dysgenesis of the basal ganglia)\n", + " \n", + " \n", + " Increased heart rate variability\n", + " definition of HP:0031862 (Increased heart rate variability)\n", + " \n", + " \n", + " Increased variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle.\n", + " definition of HP:0031862 (Increased heart rate variability)\n", + " \n", + " \n", + " Excessive blood loss during delivery\n", + " definition of HP:6000325 (Excessive blood loss during delivery)\n", + " \n", + " \n", + " Loss of a substantial amount of blood during delivery (some definitions stipulate 1000 ml or more), typically associated with manifestations such as low blood pressure, a rapid heart rate, dizziness, light-headedness, fatigue, and weakness.\n", + " definition of HP:6000325 (Excessive blood loss during delivery)\n", + " \n", + " \n", + " Renal tubular epithelial cell hemosiderin\n", + " definition of HP:0032611 (Renal tubular epithelial cell hemosiderin)\n", + " \n", + " \n", + " Tubular epithelial cells containing cytoplasmic hemosiderin, brown-golden granular pigment.\n", + " definition of HP:0032611 (Renal tubular epithelial cell hemosiderin)\n", + " \n", + " \n", + " Increased circulating dihydroxycholestanoic acid concentration\n", + " definition of HP:6000831 (Increased circulating dihydroxycholestanoic acid concentration)\n", + " \n", + " \n", + " The concentration of dihydroxycholestanoic acid (DHCA) in the blood circulation is above the upper limit of normal.\n", + " definition of HP:6000831 (Increased circulating dihydroxycholestanoic acid concentration)\n", + " \n", + " \n", + " Synostosis involving the 5th metacarpal\n", + " definition of HP:0009708 (Synostosis involving the 5th metacarpal)\n", + " \n", + " \n", + " #Fusion involving the 5th long bone of hand\n", + " definition of HP:0009708 (Synostosis involving the 5th metacarpal)\n", + " \n", + " \n", + " Abnormal respiratory motile cilium morphology\n", + " definition of HP:0005938 (Abnormal respiratory motile cilium morphology)\n", + " \n", + " \n", + " Abnormal arrangement of the structures of the motile cilium.\n", + " definition of HP:0005938 (Abnormal respiratory motile cilium morphology)\n", + " \n", + " \n", + " Elevated CSF hydroxyproline concentration\n", + " definition of HP:0034723 (Elevated CSF hydroxyproline concentration)\n", + " \n", + " \n", + " Abnormal lower-limb metaphysis morphology\n", + " definition of HP:0006490 (Abnormal lower-limb metaphysis morphology)\n", + " \n", + " \n", + " #Abnormality of lower-limb metaphyses #Abnormality of the wide portion of the lower-limb bone\n", + " definition of HP:0006490 (Abnormal lower-limb metaphysis morphology)\n", + " \n", + " \n", + " Increased circulating myristoleate level\n", + " definition of HP:0025628 (Increased circulating myristoleate level)\n", + " \n", + " \n", + " An abnormally high concentration of myristoleate in the blood circulation.\n", + " definition of HP:0025628 (Increased circulating myristoleate level)\n", + " \n", + " \n", + " Broad phalanges of the hand\n", + " definition of HP:0009768 (Broad phalanges of the hand)\n", + " \n", + " \n", + " Increased width of the phalanges of the hand.\n", + " definition of HP:0009768 (Broad phalanges of the hand)\n", + " \n", + " \n", + " #Wide hand bones #Widening of phalanges of the hand\n", + " definition of HP:0009768 (Broad phalanges of the hand)\n", + " \n", + " \n", + " Bloody diarrhea\n", + " definition of HP:0025085 (Bloody diarrhea)\n", + " \n", + " \n", + " Passage of many stools containing blood.\n", + " definition of HP:0025085 (Bloody diarrhea)\n", + " \n", + " \n", + " #Bloody bowel movement #Bloody diarrhea\n", + " definition of HP:0025085 (Bloody diarrhea)\n", + " \n", + " \n", + " Systemic lupus erythematosus\n", + " definition of HP:0002725 (Systemic lupus erythematosus)\n", + " \n", + " \n", + " A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes.\n", + " definition of HP:0002725 (Systemic lupus erythematosus)\n", + " \n", + " \n", + " #SLE\n", + " definition of HP:0002725 (Systemic lupus erythematosus)\n", + " \n", + " \n", + " Unicoronal synostosis\n", + " definition of HP:0011315 (Unicoronal synostosis)\n", + " \n", + " \n", + " Synostosis affecting only one of the coronal sutures.\n", + " definition of HP:0011315 (Unicoronal synostosis)\n", + " \n", + " \n", + " #Unilateral coronal suture craniosynostosis #Unilateral coronal suture synostosis\n", + " definition of HP:0011315 (Unicoronal synostosis)\n", + " \n", + " \n", + " Irregular epiphysis of the middle phalanx of the 2nd toe\n", + " definition of HP:0100116 (Irregular epiphysis of the middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Irregular end part of the middle bone of the 2nd toe\n", + " definition of HP:0100116 (Irregular epiphysis of the middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " Decreased circulating vitamin B5 concentration\n", + " definition of HP:0100505 (Decreased circulating vitamin B5 concentration)\n", + " \n", + " \n", + " The concentration of vitamin B5 in the blood circulation is below the lower limit of normal.\n", + " definition of HP:0100505 (Decreased circulating vitamin B5 concentration)\n", + " \n", + " \n", + " #Low levels of vitamin B5 #Vitamin B5 deficiency\n", + " definition of HP:0100505 (Decreased circulating vitamin B5 concentration)\n", + " \n", + " \n", + " Moderate proteinuria\n", + " definition of HP:0012596 (Moderate proteinuria)\n", + " \n", + " \n", + " Moderately increased levels of protein in the urine (500-1000 mg per day in adults).\n", + " definition of HP:0012596 (Moderate proteinuria)\n", + " \n", + " \n", + " Abnormality of the epiphysis of the distal phalanx of the 4th finger\n", + " definition of HP:0009249 (Abnormality of the epiphysis of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " #Abnormality of the end part of the outermost bone of the ring finger\n", + " definition of HP:0009249 (Abnormality of the epiphysis of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " Carpometacarpal thumb joint contracture\n", + " definition of HP:0009624 (Carpometacarpal thumb joint contracture)\n", + " \n", + " \n", + " Chronic loss of joint motion of the carpometacarpal joint of the thumb due to structural changes in non-bony tissue. This joint is formed by the first metacarpal and the trapezial bone and is also called Articulatio carpometacarpalis pollicis, carpometacarpal articulation of thumb, carpometacarpal joint of thumb or first carpometacarpal articulation. Seldom referred to as thumb saddle joint.\n", + " definition of HP:0009624 (Carpometacarpal thumb joint contracture)\n", + " \n", + " \n", + " #Contracture of the carpometacarpal joint of the thumb\n", + " definition of HP:0009624 (Carpometacarpal thumb joint contracture)\n", + " \n", + " \n", + " Increased jitter at single fiber EMG\n", + " definition of HP:0030205 (Increased jitter at single fiber EMG)\n", + " \n", + " \n", + " The variation in the time interval between the two action potentials of the same motor unit is called jitter. This term therefore applies to increased variability in the interval between successive action potentials of the same motor unit, which is measured by electromyography (EMG).\n", + " definition of HP:0030205 (Increased jitter at single fiber EMG)\n", + " \n", + " \n", + " #Increased jitter at single fibre electromyography #Increased jitter at single fibre EMG\n", + " definition of HP:0030205 (Increased jitter at single fiber EMG)\n", + " \n", + " \n", + " Limb myoclonus\n", + " definition of HP:0045084 (Limb myoclonus)\n", + " \n", + " \n", + " #Myoclonus of limbs\n", + " definition of HP:0045084 (Limb myoclonus)\n", + " \n", + " \n", + " Protanomaly\n", + " definition of HP:0200018 (Protanomaly)\n", + " \n", + " \n", + " A type of anomalous trichromacy associated with defective long-wavelength-sensitive (L) cones, causing the sensitivity spectrum to be shifted toward medium wavelengths. This leads to difficulties especially in distinguishing red and green.\n", + " definition of HP:0200018 (Protanomaly)\n", + " \n", + " \n", + " #Colorblindness, partial, protan series #Red-weak\n", + " definition of HP:0200018 (Protanomaly)\n", + " \n", + " \n", + " Hypocalcemic tetany\n", + " definition of HP:0003472 (Hypocalcemic tetany)\n", + " \n", + " \n", + " Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms.\n", + " definition of HP:0003472 (Hypocalcemic tetany)\n", + " \n", + " \n", + " Reticular hyperpigmentation\n", + " definition of HP:0007588 (Reticular hyperpigmentation)\n", + " \n", + " \n", + " Increased pigmentation of the skin with a netlike (reticular) pattern.\n", + " definition of HP:0007588 (Reticular hyperpigmentation)\n", + " \n", + " \n", + " #Reticulate hyperpigmentation\n", + " definition of HP:0007588 (Reticular hyperpigmentation)\n", + " \n", + " \n", + " Post-angioplasty coronary artery restenosis\n", + " definition of HP:0004761 (Post-angioplasty coronary artery restenosis)\n", + " \n", + " \n", + " Unilateral cleft lip\n", + " definition of HP:0100333 (Unilateral cleft lip)\n", + " \n", + " \n", + " A non-midline cleft of the upper lip on one side only.\n", + " definition of HP:0100333 (Unilateral cleft lip)\n", + " \n", + " \n", + " #One sided cleft upper lip #Unilateral cheiloschisis #Unilateral cleft upper lip\n", + " definition of HP:0100333 (Unilateral cleft lip)\n", + " \n", + " \n", + " Drug-induced anaphylaxis\n", + " definition of HP:0410149 (Drug-induced anaphylaxis)\n", + " \n", + " \n", + " A form of anaphylaxis that is triggered by intake of drugs or medications.\n", + " definition of HP:0410149 (Drug-induced anaphylaxis)\n", + " \n", + " \n", + " #Drug induced anaphylaxis\n", + " definition of HP:0410149 (Drug-induced anaphylaxis)\n", + " \n", + " \n", + " Topographical agnosia\n", + " definition of HP:5200407 (Topographical agnosia)\n", + " \n", + " \n", + " The inability to rely on visual cues to guide one's direction is due to the inability to recognize objects.\n", + " definition of HP:5200407 (Topographical agnosia)\n", + " \n", + " \n", + " Increased femoral anteversion\n", + " definition of HP:0012427 (Increased femoral anteversion)\n", + " \n", + " \n", + " An increased degree of femoral version, which is defined as the angular difference between axis of femoral neck and transcondylar axis of the knee. Thus, femoral anteversion is an inward twisting of the femur that causes the knees and feet to turn inward.\n", + " definition of HP:0012427 (Increased femoral anteversion)\n", + " \n", + " \n", + " #Excessive femoral anteversion #Increased femoral neck anteversion #Internally rotated hips\n", + " definition of HP:0012427 (Increased femoral anteversion)\n", + " \n", + " \n", + " Latent myopia\n", + " definition of HP:0500066 (Latent myopia)\n", + " \n", + " \n", + " The difference between total and manifest myopia.\n", + " definition of HP:0500066 (Latent myopia)\n", + " \n", + " \n", + " Dysdiadochokinesis\n", + " definition of HP:0002075 (Dysdiadochokinesis)\n", + " \n", + " \n", + " A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible.\n", + " definition of HP:0002075 (Dysdiadochokinesis)\n", + " \n", + " \n", + " #Difficulty performing quick and alternating movements #Dysdiadochokinesia\n", + " definition of HP:0002075 (Dysdiadochokinesis)\n", + " \n", + " \n", + " Chorioretinal dysplasia\n", + " definition of HP:0007731 (Chorioretinal dysplasia)\n", + " \n", + " \n", + " Abnormal development of the choroid and retina.\n", + " definition of HP:0007731 (Chorioretinal dysplasia)\n", + " \n", + " \n", + " Tapered humerus\n", + " definition of HP:0003883 (Tapered humerus)\n", + " \n", + " \n", + " #Tapered long bone of upper arm\n", + " definition of HP:0003883 (Tapered humerus)\n", + " \n", + " \n", + " Bradypnea\n", + " definition of HP:0046507 (Bradypnea)\n", + " \n", + " \n", + " Bradypnea is referring to breathing that is abnormally slow.\n", + " definition of HP:0046507 (Bradypnea)\n", + " \n", + " \n", + " Fibular deviation of toes\n", + " definition of HP:0100500 (Fibular deviation of toes)\n", + " \n", + " \n", + " #Lateral deviation of toes\n", + " definition of HP:0100500 (Fibular deviation of toes)\n", + " \n", + " \n", + " Limited mobility of proximal interphalangeal joint\n", + " definition of HP:0006217 (Limited mobility of proximal interphalangeal joint)\n", + " \n", + " \n", + " #Limited mobility of innermost hinge joint\n", + " definition of HP:0006217 (Limited mobility of proximal interphalangeal joint)\n", + " \n", + " \n", + " Abnormality of the distal phalanx of the 5th toe\n", + " definition of HP:0010392 (Abnormality of the distal phalanx of the 5th toe)\n", + " \n", + " \n", + " #Abnormality of the outermost bone of the little toe #Abnormality of the outermost bone of the pinkie toe #Abnormality of the outermost bone of the pinky toe\n", + " definition of HP:0010392 (Abnormality of the distal phalanx of the 5th toe)\n", + " \n", + " \n", + " Deviation of toes\n", + " definition of HP:0100498 (Deviation of toes)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the thymus\n", + " definition of HP:0010515 (Aplasia/Hypoplasia of the thymus)\n", + " \n", + " \n", + " Absence or underdevelopment of the thymus.\n", + " definition of HP:0010515 (Aplasia/Hypoplasia of the thymus)\n", + " \n", + " \n", + " #Absent/small thymus #Absent/underdeveloped thymus\n", + " definition of HP:0010515 (Aplasia/Hypoplasia of the thymus)\n", + " \n", + " \n", + " Tegumentary leishmaniasis susceptibility\n", + " definition of HP:0007408 (Tegumentary leishmaniasis susceptibility)\n", + " \n", + " \n", + " Increased susceptibility to infection by the protozan parasite of the genus Leishmania.\n", + " definition of HP:0007408 (Tegumentary leishmaniasis susceptibility)\n", + " \n", + " \n", + " Interrupted aortic arch type C\n", + " definition of HP:0011614 (Interrupted aortic arch type C)\n", + " \n", + " \n", + " Non-continuity of the aortic arch with an atretic point or absent segment between the innominate and left carotid arteries.\n", + " definition of HP:0011614 (Interrupted aortic arch type C)\n", + " \n", + " \n", + " Suck reflex\n", + " definition of HP:0030906 (Suck reflex)\n", + " \n", + " \n", + " A type of primitive reflex that is elicited by lightly touching or tapping on the lips with an object such as a tongue blade, reflex hammer, or the examiner's finger. At times the reflex is obtained merely by approaching the lips with an object. A positive suck reflex consists of sucking movements by the lips when they are stroked or touched.\n", + " definition of HP:0030906 (Suck reflex)\n", + " \n", + " \n", + " #Persistent nutritive suckle swallow\n", + " definition of HP:0030906 (Suck reflex)\n", + " \n", + " \n", + " Sunflower cataract\n", + " definition of HP:6000642 (Sunflower cataract)\n", + " \n", + " \n", + " Sunflower cataract (SC) is a type of anterior subcapsular cataract almost only seen in Wilson disease, an autosomal-recessive condition with a defect in the metabolism of copper leading to accumulation of copper in the liver and basal ganglia. SC consists of a thin, centralized opacification that is located directly under the anterior capsule and encompasses between one-third and one-half of the anterior lens pole surface area. In all cases, the central opacification is surrounded by additional, secondary opacifications arranged in ray-like structures around it. This pattern is said to resemble a sunflower, with a large central disk surrounded by petals.\n", + " definition of HP:6000642 (Sunflower cataract)\n", + " \n", + " \n", + " Episodic ataxia\n", + " definition of HP:0002131 (Episodic ataxia)\n", + " \n", + " \n", + " Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days.\n", + " definition of HP:0002131 (Episodic ataxia)\n", + " \n", + " \n", + " #Intermittent cerebellar ataxia #Paroxysmal ataxia\n", + " definition of HP:0002131 (Episodic ataxia)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the breasts\n", + " definition of HP:0010311 (Aplasia/Hypoplasia of the breasts)\n", + " \n", + " \n", + " Absence or underdevelopment of the breasts.\n", + " definition of HP:0010311 (Aplasia/Hypoplasia of the breasts)\n", + " \n", + " \n", + " #Absent/small breasts #Absent/underdeveloped breasts\n", + " definition of HP:0010311 (Aplasia/Hypoplasia of the breasts)\n", + " \n", + " \n", + " Exuberant granulation tissue\n", + " definition of HP:6000956 (Exuberant granulation tissue)\n", + " \n", + " \n", + " A manifestation of abnormal wound healing in which there is formation of excessive granulation tissue, with the granulation tissue rising above the level of surrounding skin and creating a raised, reddish, moist, and bumpy surface.\n", + " definition of HP:6000956 (Exuberant granulation tissue)\n", + " \n", + " \n", + " #Hypergranulating wound #Overgranulation\n", + " definition of HP:6000956 (Exuberant granulation tissue)\n", + " \n", + " \n", + " Hand clenching\n", + " definition of HP:0001188 (Hand clenching)\n", + " \n", + " \n", + " An abnormal hand posture in which the hands are clenched to fists. All digits held completely flexed at the metacarpophalangeal and interphalangeal joints. In prenatal sonography of the fetal clenched hand, the index finger overlaps a clenched fist formed by the other digits. The proximal interphalangeal articulation of the index finger is flexed and ulnarly deviated, and the thumb is adducted.\n", + " definition of HP:0001188 (Hand clenching)\n", + " \n", + " \n", + " #Clenched hand #Clenched hands #Fisted hand #Fisting #Hand clenching #Hands fisted #Hands tightly fisted #Thumb clasp\n", + " definition of HP:0001188 (Hand clenching)\n", + " \n", + " \n", + " Recurrent genital herpes\n", + " definition of HP:0032157 (Recurrent genital herpes)\n", + " \n", + " \n", + " Recurrent episodes of genital herpes, typically characterized by stages of erythema, papules, short-lived vesicles, painful ulcers, and crusts on the skin of the genitals and surrounding area, and that typically resolve over a period of 2 to 3 weeks.\n", + " definition of HP:0032157 (Recurrent genital herpes)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of toe\n", + " definition of HP:0001991 (Aplasia/Hypoplasia of toe)\n", + " \n", + " \n", + " Absence or hypoplasia of toes.\n", + " definition of HP:0001991 (Aplasia/Hypoplasia of toe)\n", + " \n", + " \n", + " #Absent/small toe #Absent/underdeveloped toe #Aplastic/hypoplastic toe phalanges\n", + " definition of HP:0001991 (Aplasia/Hypoplasia of toe)\n", + " \n", + " \n", + " Cardiomyocyte degeneration\n", + " definition of HP:0031332 (Cardiomyocyte degeneration)\n", + " \n", + " \n", + " Deterioration of cardiomyocyte characterized by abnormal features such as loss of myofilaments, occurrence of cellular sequestration, decreased mitochondrial sizes and cellular debris.\n", + " definition of HP:0031332 (Cardiomyocyte degeneration)\n", + " \n", + " \n", + " Increased intramuscular fat\n", + " definition of HP:0008985 (Increased intramuscular fat)\n", + " \n", + " \n", + " An abnormal increase in the amount of intramuscular fat tissue.\n", + " definition of HP:0008985 (Increased intramuscular fat)\n", + " \n", + " \n", + " #Increased IM fat #Increased intramuscular fat\n", + " definition of HP:0008985 (Increased intramuscular fat)\n", + " \n", + " \n", + " Exposure to aquatic animals\n", + " definition of HP:6000055 (Exposure to aquatic animals)\n", + " \n", + " \n", + " History of exposure to aquatic animals.\n", + " definition of HP:6000055 (Exposure to aquatic animals)\n", + " \n", + " \n", + " Apnea of prematurity\n", + " definition of HP:0034236 (Apnea of prematurity)\n", + " \n", + " \n", + " Recurrent episodes of apnea occurring in infants born less than 37 weeks of gestation, defined specifically as a pause of breathing for more than 15-20 s, or accompanied by oxygen desaturation (SpO2 not more than 80% for at least 4 s) and bradycardia (heart rate less than 2/3 of baseline for at least 4 s), in infants born less than 37 weeks of gestation.\n", + " definition of HP:0034236 (Apnea of prematurity)\n", + " \n", + " \n", + " #AOP\n", + " definition of HP:0034236 (Apnea of prematurity)\n", + " \n", + " \n", + " Epilepsia partialis continua\n", + " definition of HP:0012847 (Epilepsia partialis continua)\n", + " \n", + " \n", + " Epilepsia partialis continua (also called Kojevnikov's or Kozhevnikov's epilepsia) is a type of focal motor status epilepticus characterized by repeated stereotyped simple motor manifestations such as jerks, typically of a limb or the face, recurring every few seconds or minutes for extended periods (days or years).\n", + " definition of HP:0012847 (Epilepsia partialis continua)\n", + " \n", + " \n", + " #Epilepsia partialis continua of Kojevnikov #Kojevnikov's epilepsia #Kozhevnikov's epilepsia\n", + " definition of HP:0012847 (Epilepsia partialis continua)\n", + " \n", + " \n", + " Grade I vesicoureteral reflux\n", + " definition of HP:0033735 (Grade I vesicoureteral reflux)\n", + " \n", + " \n", + " Vesicoureteral reflux into the ureter only.\n", + " definition of HP:0033735 (Grade I vesicoureteral reflux)\n", + " \n", + " \n", + " #Grade I VUR #VUR I\n", + " definition of HP:0033735 (Grade I vesicoureteral reflux)\n", + " \n", + " \n", + " Neural tube defect\n", + " definition of HP:0045005 (Neural tube defect)\n", + " \n", + " \n", + " A neural tube defect arises when the neural tube, the embryonic precursor of the brain and spinal cord, fails to close during neurulation. The cranial region (anencephaly) or the low spine (open spina bifida; myelomeningocele) are most commonly affected although, in the severe NTD craniorachischisis, almost the entire neural tube remains open, from midbrain to low spine.\n", + " definition of HP:0045005 (Neural tube defect)\n", + " \n", + " \n", + " #Abnormality of neural tube closure\n", + " definition of HP:0045005 (Neural tube defect)\n", + " \n", + " \n", + " Broad metacarpals\n", + " definition of HP:0001230 (Broad metacarpals)\n", + " \n", + " \n", + " Abnormally broad metacarpal bones.\n", + " definition of HP:0001230 (Broad metacarpals)\n", + " \n", + " \n", + " #Wide long bones of hand #Wide metacarpals\n", + " definition of HP:0001230 (Broad metacarpals)\n", + " \n", + " \n", + " Addictive behavior\n", + " definition of HP:0030858 (Addictive behavior)\n", + " \n", + " \n", + " When an activity, substance, object, or behavior becomes a major focus of a person's life, excluding other activities, or has begun to harm the individual or others physically, mentally, or socially, it can be considered addictive behavior. A person can become addicted or compulsively engaged with anything.\n", + " definition of HP:0030858 (Addictive behavior)\n", + " \n", + " \n", + " #Addictive behaviour\n", + " definition of HP:0030858 (Addictive behavior)\n", + " \n", + " \n", + " Postexertional symptom exacerbation\n", + " definition of HP:0030973 (Postexertional symptom exacerbation)\n", + " \n", + " \n", + " Post-exertional symptom exacerbation (PESE), also referred to as post-exertional malaise (PEM), is defined as the worsening of symptoms that can follow minimal cognitive, physical, emotional, or social activity, or activity that could previously be tolerated. Symptoms typically worsen 12 to 72 hours after activity and can last for days or even weeks, sometimes leading to a relapse.\n", + " definition of HP:0030973 (Postexertional symptom exacerbation)\n", + " \n", + " \n", + " #Exercise-induced malaise #Postexertional malaise\n", + " definition of HP:0030973 (Postexertional symptom exacerbation)\n", + " \n", + " \n", + " Hydromyelia\n", + " definition of HP:0100565 (Hydromyelia)\n", + " \n", + " \n", + " Dilation of central canal from incomplete fusion of the posterior columns or persistence of the primitive large canal of the embryo.\n", + " definition of HP:0100565 (Hydromyelia)\n", + " \n", + " \n", + " Airway casts\n", + " definition of HP:0025696 (Airway casts)\n", + " \n", + " \n", + " A replicate of airways from accumulated and condensed mucous and cellular material. These semisolid occlusions take the shape of the airway within they are formed, leading to obstruction of the tracheobronchial tree with consecutive respiratory insufficiency. Based on their principal composition, one can differentiate fibrin casts and mucin casts. Plastic bronchitis is the name of the condition characterized by the formation of airway casts.\n", + " definition of HP:0025696 (Airway casts)\n", + " \n", + " \n", + " Highly elevated creatine kinase\n", + " definition of HP:0030234 (Highly elevated creatine kinase)\n", + " \n", + " \n", + " An increased CPK level between 4X and 50X above the upper normal level.\n", + " definition of HP:0030234 (Highly elevated creatine kinase)\n", + " \n", + " \n", + " #Highly elevated CPK #Highly elevated creatine phosphokinase #Highly elevated serum CK #Highly elevated serum CPK #Highly elevated serum phosph-CK\n", + " definition of HP:0030234 (Highly elevated creatine kinase)\n", + " \n", + " \n", + " Uniparental isodisomy\n", + " definition of HP:0032384 (Uniparental isodisomy)\n", + " \n", + " \n", + " A type of uniparental disomy in which the two identical chromosomes (or chromosome segments) of the same parent are transmitted.\n", + " definition of HP:0032384 (Uniparental isodisomy)\n", + " \n", + " \n", + " Triggered by poison ivy, poson oak, or sumac\n", + " definition of HP:4000121 (Triggered by poison ivy, poson oak, or sumac)\n", + " \n", + " \n", + " Applies to a sign or symptom that is provoked or brought about by exposure (cutaneous contact) to poison ivy, poison oak, and poison sumac. These three plants each contain urushiol. Contact with these plants is the most common causes of clinically diagnosed allergic contact dermatitis.\n", + " definition of HP:4000121 (Triggered by poison ivy, poson oak, or sumac)\n", + " \n", + " \n", + " #Contact with poison ivy, poison oak, or sumac\n", + " definition of HP:4000121 (Triggered by poison ivy, poson oak, or sumac)\n", + " \n", + " \n", + " Hypersegmentation of neutrophil nuclei in CSF\n", + " definition of HP:0410312 (Hypersegmentation of neutrophil nuclei in CSF)\n", + " \n", + " \n", + " An excessive division of the lobes of the nucleus of a neutrophil in the cerebrospinal fluid.\n", + " definition of HP:0410312 (Hypersegmentation of neutrophil nuclei in CSF)\n", + " \n", + " \n", + " #Hypersegmentation of neutrophil nuclei in cerebrospinal fluid\n", + " definition of HP:0410312 (Hypersegmentation of neutrophil nuclei in CSF)\n", + " \n", + " \n", + " Increased serum estrone\n", + " definition of HP:0025139 (Increased serum estrone)\n", + " \n", + " \n", + " An elevation above normal limits of the concentration of estrone in the circulation.\n", + " definition of HP:0025139 (Increased serum estrone)\n", + " \n", + " \n", + " Autism with high cognitive abilities\n", + " definition of HP:0000753 (Autism with high cognitive abilities)\n", + " \n", + " \n", + " Anti-titin antibody positivity\n", + " definition of HP:5000038 (Anti-titin antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against titin.\n", + " definition of HP:5000038 (Anti-titin antibody positivity)\n", + " \n", + " \n", + " Acute otitis media\n", + " definition of HP:0000371 (Acute otitis media)\n", + " \n", + " \n", + " Acute otitis media is a short and generally painful infection of the middle ear.\n", + " definition of HP:0000371 (Acute otitis media)\n", + " \n", + " \n", + " #Acute middle ear infection\n", + " definition of HP:0000371 (Acute otitis media)\n", + " \n", + " \n", + " Neologism\n", + " definition of HP:5200007 (Neologism)\n", + " \n", + " \n", + " Consistent use of an invented word that is unique to an individual.\n", + " definition of HP:5200007 (Neologism)\n", + " \n", + " \n", + " Increased proportion of naive CD8 T cells\n", + " definition of HP:0410376 (Increased proportion of naive CD8 T cells)\n", + " \n", + " \n", + " An abnormally increased proportion of naive CD8 T cells relative to the total number of T cells.\n", + " definition of HP:0410376 (Increased proportion of naive CD8 T cells)\n", + " \n", + " \n", + " #Elevated proportion of naive CD8 T cells #Elevated proportion of naive thymus-derived CD8-positive, alpha-beta T cells\n", + " definition of HP:0410376 (Increased proportion of naive CD8 T cells)\n", + " \n", + " \n", + " Focal aware sensory seizure with hot-cold sensations\n", + " definition of HP:0032877 (Focal aware sensory seizure with hot-cold sensations)\n", + " \n", + " \n", + " A seizure characterized by sensations of feeling hot and then cold.\n", + " definition of HP:0032877 (Focal aware sensory seizure with hot-cold sensations)\n", + " \n", + " \n", + " Subcortical heterotopia\n", + " definition of HP:0032391 (Subcortical heterotopia)\n", + " \n", + " \n", + " A form of heterotopia were the mislocalized gray matter is located deep within the white matter.\n", + " definition of HP:0032391 (Subcortical heterotopia)\n", + " \n", + " \n", + " Reduction of neutrophil motility\n", + " definition of HP:0005400 (Reduction of neutrophil motility)\n", + " \n", + " \n", + " An abnormal reduction of the cell motility of neutrophils.\n", + " definition of HP:0005400 (Reduction of neutrophil motility)\n", + " \n", + " \n", + " Finger clinodactyly\n", + " definition of HP:0040019 (Finger clinodactyly)\n", + " \n", + " \n", + " Wide nasal bridge\n", + " definition of HP:0000431 (Wide nasal bridge)\n", + " \n", + " \n", + " Increased breadth of the nasal bridge (and with it, the nasal root).\n", + " definition of HP:0000431 (Wide nasal bridge)\n", + " \n", + " \n", + " #Broad nasal bridge #Broad nasal root #Broadened nasal bridge #Increased breadth of bridge of nose #Increased breadth of nasal bridge #Increased width of bridge of nose #Increased width of nasal bridge #Nasal bridge broad #Nasal bridge, wide #Wide bridge of nose #Wide nasal bridge #Widened nasal bridge\n", + " definition of HP:0000431 (Wide nasal bridge)\n", + " \n", + " \n", + " Temperature instability\n", + " definition of HP:0005968 (Temperature instability)\n", + " \n", + " \n", + " Disordered thermoregulation characterized by an impaired ability to maintain a balance between heat production and heat loss, with resulting instability of body temperature.\n", + " definition of HP:0005968 (Temperature instability)\n", + " \n", + " \n", + " #Temperature instability\n", + " definition of HP:0005968 (Temperature instability)\n", + " \n", + " \n", + " Glutathionuria\n", + " definition of HP:0034586 (Glutathionuria)\n", + " \n", + " \n", + " Level of glutathione in the urine above the upper limit of normal.\n", + " definition of HP:0034586 (Glutathionuria)\n", + " \n", + " \n", + " #Glutathione high in urine\n", + " definition of HP:0034586 (Glutathionuria)\n", + " \n", + " \n", + " Punctate keratitis\n", + " definition of HP:0011859 (Punctate keratitis)\n", + " \n", + " \n", + " A type of keratitis characterized by inflammation in pinpoint areas of the corneal epithelium.\n", + " definition of HP:0011859 (Punctate keratitis)\n", + " \n", + " \n", + " Kerion\n", + " definition of HP:6000424 (Kerion)\n", + " \n", + " \n", + " Kerion is an erythematous, boggy, tender, often sterile, weeping nodule or plaque with pustules and draining sinuses. Hair in these areas appears lusterless, brittle, and is easily plucked. Kerion can be solitary or multiple but is usually unilateral. Patients with inflammatory tinea barbae may have constitutional symptoms like fever and malaise. Kerion is a coalesced sterile pustule, but occasionally they can get superinfected with cutaneous bacteria and develop regional lymphadenopathy.\n", + " definition of HP:6000424 (Kerion)\n", + " \n", + " \n", + " Renal tubular epithelial cell swelling\n", + " definition of HP:0032607 (Renal tubular epithelial cell swelling)\n", + " \n", + " \n", + " Tubular cross section lined entirely by tubular epithelium with convex apical cell membrane (i.e., cells are shaped like an upside down U, and lack a distinct smaller protrusion seen in blebbing as defined above) resulting in apparent complete closure of the lumen.\n", + " definition of HP:0032607 (Renal tubular epithelial cell swelling)\n", + " \n", + " \n", + " Atrophy/Degeneration involving the spinal cord\n", + " definition of HP:0007344 (Atrophy/Degeneration involving the spinal cord)\n", + " \n", + " \n", + " #Atrophic and degenerative changes in the spinal cord\n", + " definition of HP:0007344 (Atrophy/Degeneration involving the spinal cord)\n", + " \n", + " \n", + " Abnormal lower limb epiphysis morphology\n", + " definition of HP:0006500 (Abnormal lower limb epiphysis morphology)\n", + " \n", + " \n", + " An anomaly of one or more epiphyses of one or both legs.\n", + " definition of HP:0006500 (Abnormal lower limb epiphysis morphology)\n", + " \n", + " \n", + " #Abnormal shape of end part of lower limb end bone #Abnormality involving the epiphyses of the lower limbs #Abnormality of lower limb epiphysis morphology\n", + " definition of HP:0006500 (Abnormal lower limb epiphysis morphology)\n", + " \n", + " \n", + " Secundum atrial septal defect\n", + " definition of HP:0001684 (Secundum atrial septal defect)\n", + " \n", + " \n", + " A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum.\n", + " definition of HP:0001684 (Secundum atrial septal defect)\n", + " \n", + " \n", + " #Atrial septal defect, ostium secundum type #Ostium secundum atrial septal defect #Patent ostium secundum\n", + " definition of HP:0001684 (Secundum atrial septal defect)\n", + " \n", + " \n", + " Hidrotic ectodermal dysplasia\n", + " definition of HP:0007529 (Hidrotic ectodermal dysplasia)\n", + " \n", + " \n", + " Flat cornea\n", + " definition of HP:0007720 (Flat cornea)\n", + " \n", + " \n", + " Cornea plana is an abnormally flat shape of the cornea such that the normal protrusion of the cornea from the sclera is missing. The reduced corneal curvature can lead to hyperopia, and a hazy corneal limbus and arcus lipoides may develop at an early age.\n", + " definition of HP:0007720 (Flat cornea)\n", + " \n", + " \n", + " #Cornea plana\n", + " definition of HP:0007720 (Flat cornea)\n", + " \n", + " \n", + " Foot polydactyly\n", + " definition of HP:0001829 (Foot polydactyly)\n", + " \n", + " \n", + " A kind of polydactyly characterized by the presence of a supernumerary toe or toes.\n", + " definition of HP:0001829 (Foot polydactyly)\n", + " \n", + " \n", + " #Duplication of bones of the toes #Polydactyly of feet #Polydactyly of the foot\n", + " definition of HP:0001829 (Foot polydactyly)\n", + " \n", + " \n", + " Fibrofolliculoma\n", + " definition of HP:0030436 (Fibrofolliculoma)\n", + " \n", + " \n", + " Fibrofolliculoma is a clinically asymptomatic, 2-4 mm, skin-colored, dome-shaped smooth papule. It usually arises in the form of multiple lesions in adults in different areas such as the scalp, forehead, face, and neck. According to histology, the lesion is a fibrotic hamartoma characterized by infundibular epithelial proliferation and perifollicular fibrous proliferation.\n", + " definition of HP:0030436 (Fibrofolliculoma)\n", + " \n", + " \n", + " #Fibrofolliculomas\n", + " definition of HP:0030436 (Fibrofolliculoma)\n", + " \n", + " \n", + " Generalized osteoporosis\n", + " definition of HP:0040160 (Generalized osteoporosis)\n", + " \n", + " \n", + " #Generalised osteoporosis\n", + " definition of HP:0040160 (Generalized osteoporosis)\n", + " \n", + " \n", + " Abnormal tricuspid valve morphology\n", + " definition of HP:0001702 (Abnormal tricuspid valve morphology)\n", + " \n", + " \n", + " Any structural anomaly of the tricuspid valve.\n", + " definition of HP:0001702 (Abnormal tricuspid valve morphology)\n", + " \n", + " \n", + " #Abnormality of the tricuspid valve\n", + " definition of HP:0001702 (Abnormal tricuspid valve morphology)\n", + " \n", + " \n", + " Regional abnormality of skin\n", + " definition of HP:0011356 (Regional abnormality of skin)\n", + " \n", + " \n", + " An abnormality of the skin that is restricted to a particular body region.\n", + " definition of HP:0011356 (Regional abnormality of skin)\n", + " \n", + " \n", + " Fetal bowel dilatation\n", + " definition of HP:4000140 (Fetal bowel dilatation)\n", + " \n", + " \n", + " Fetal bowel dilatation is characterized by fluid-filled intestinal loops which measure at least fifteen millimeters long or seven millimeters in diameter. Ultrasonographic image of dilated fetal bowel is a sign of intestinal mechanical or functional obstruction and its prevalence will depend on the underlying condition: bowel atresia or stenosis, malrotation with volvulus, meconium ileus, total colonic aganglionosis, and meconium plug syndrome. The etiology of fetal bowel dilatation is a difficult prenatal diagnosis since ultrasound has limited accuracy for bowel evaluation.\n", + " definition of HP:4000140 (Fetal bowel dilatation)\n", + " \n", + " \n", + " #Foetal bowel dilatation #Prenatal ultrasound: bowel loops dilated\n", + " definition of HP:4000140 (Fetal bowel dilatation)\n", + " \n", + " \n", + " Enlarged kidney\n", + " definition of HP:0000105 (Enlarged kidney)\n", + " \n", + " \n", + " An abnormal increase in the size of the kidney.\n", + " definition of HP:0000105 (Enlarged kidney)\n", + " \n", + " \n", + " #Enlarged kidney #Large kidneys #Nephromegaly #Renal enlargement\n", + " definition of HP:0000105 (Enlarged kidney)\n", + " \n", + " \n", + " Weak pulse\n", + " definition of HP:0032553 (Weak pulse)\n", + " \n", + " \n", + " A diminution in the amplitude (strength) of the pulse such that the examiner has difficulty feeling the pulse.\n", + " definition of HP:0032553 (Weak pulse)\n", + " \n", + " \n", + " Oligoclonal elevation of circulating IgA\n", + " definition of HP:0032334 (Oligoclonal elevation of circulating IgA)\n", + " \n", + " \n", + " An increase in circulating IgA characterized by two or more bands in serum electrophoresis but not the broad diffuse band that characterizes a polyclonal increase in circulating immunoglobulins.\n", + " definition of HP:0032334 (Oligoclonal elevation of circulating IgA)\n", + " \n", + " \n", + " Cerebellar edema\n", + " definition of HP:0030915 (Cerebellar edema)\n", + " \n", + " \n", + " Swelling from fluid accumulation (serous fluid infiltration into the interstitial space) in the cerebellum.\n", + " definition of HP:0030915 (Cerebellar edema)\n", + " \n", + " \n", + " #Cerebellar edema #Edema of the cerebellum #Oedema of the cerebellum\n", + " definition of HP:0030915 (Cerebellar edema)\n", + " \n", + " \n", + " Germinal centers with absent marginal zones\n", + " definition of HP:0020258 (Germinal centers with absent marginal zones)\n", + " \n", + " \n", + " Aminoaciduria\n", + " definition of HP:0003355 (Aminoaciduria)\n", + " \n", + " \n", + " An increased concentration of an amino acid in the urine.\n", + " definition of HP:0003355 (Aminoaciduria)\n", + " \n", + " \n", + " #High urine amino acid levels #Hyperaminoaciduria #Increased levels of animo acids in urine\n", + " definition of HP:0003355 (Aminoaciduria)\n", + " \n", + " \n", + " Abnormal abdomen morphology\n", + " definition of HP:0001438 (Abnormal abdomen morphology)\n", + " \n", + " \n", + " A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax.\n", + " definition of HP:0001438 (Abnormal abdomen morphology)\n", + " \n", + " \n", + " #Abnormality of abdomen morphology #Abnormality of abdomen structure #Abnormality of the abdomen\n", + " definition of HP:0001438 (Abnormal abdomen morphology)\n", + " \n", + " \n", + " Short proximal phalanx of finger\n", + " definition of HP:0010241 (Short proximal phalanx of finger)\n", + " \n", + " \n", + " Congenital hypoplasia of one or more proximal phalanx of finger.\n", + " definition of HP:0010241 (Short proximal phalanx of finger)\n", + " \n", + " \n", + " #Hypoplasia of the proximal phalanges of the hand #Short innermost finger bones #Short proximal phalanges #Short proximal phalanx of finger #Shortening in proximal phalanges\n", + " definition of HP:0010241 (Short proximal phalanx of finger)\n", + " \n", + " \n", + " Abnormal fucosylation of protein N-linked glycosylation\n", + " definition of HP:0012352 (Abnormal fucosylation of protein N-linked glycosylation)\n", + " \n", + " \n", + " An anomaly of the addition of fucose sugar units to N-linked glycans.\n", + " definition of HP:0012352 (Abnormal fucosylation of protein N-linked glycosylation)\n", + " \n", + " \n", + " Elevated circulating acetoacetic acid concentration\n", + " definition of HP:0033408 (Elevated circulating acetoacetic acid concentration)\n", + " \n", + " \n", + " An increased level of acetoacetic acid in the blood circulation. Acetoacetic acid is one of the predominant ketone bodies.\n", + " definition of HP:0033408 (Elevated circulating acetoacetic acid concentration)\n", + " \n", + " \n", + " Severe demyelination of the white matter\n", + " definition of HP:0007258 (Severe demyelination of the white matter)\n", + " \n", + " \n", + " A severe loss of myelin from nerve fibers in the central nervous system.\n", + " definition of HP:0007258 (Severe demyelination of the white matter)\n", + " \n", + " \n", + " Short REM sleep\n", + " definition of HP:5200360 (Short REM sleep)\n", + " \n", + " \n", + " S-shaped palpebral fissures\n", + " definition of HP:0007835 (S-shaped palpebral fissures)\n", + " \n", + " \n", + " #S-shaped eyes #S-shaped opening between the eyelids\n", + " definition of HP:0007835 (S-shaped palpebral fissures)\n", + " \n", + " \n", + " Decreased circulating complement C8 concentration\n", + " definition of HP:0004434 (Decreased circulating complement C8 concentration)\n", + " \n", + " \n", + " Concentration of the complement component C8 in the blood circulation below the lower limit of normal.\n", + " definition of HP:0004434 (Decreased circulating complement C8 concentration)\n", + " \n", + " \n", + " #C8 deficiency #Decreased serum complement C8\n", + " definition of HP:0004434 (Decreased circulating complement C8 concentration)\n", + " \n", + " \n", + " Focal EEG discharges with secondary generalization\n", + " definition of HP:0011188 (Focal EEG discharges with secondary generalization)\n", + " \n", + " \n", + " Focal EEG discharges that secondarily spread to both hemispheres and can then be recorded over the entire scalp.\n", + " definition of HP:0011188 (Focal EEG discharges with secondary generalization)\n", + " \n", + " \n", + " #Focal EEG discharges with secondary generalisation\n", + " definition of HP:0011188 (Focal EEG discharges with secondary generalization)\n", + " \n", + " \n", + " Brain fog\n", + " definition of HP:0033630 (Brain fog)\n", + " \n", + " \n", + " Brain fog is a type of transient cognitive dysfunction that comprises a constellation of symptoms that impair intellectual functioning to a level that interferes with daily activities, commonly including forgetfulness, mental slowness, difficulty thinking or focusing, a perceived slowing of mental processing speed, inability to find the right words, a sensation that the mind went blank or is \\"cloudy\\". Brain fog tends to recur and may be triggered by factors such as physical fatigue, lack of sleep, and prolonged standing or may appear to occur spontaneously.\n", + " definition of HP:0033630 (Brain fog)\n", + " \n", + " \n", + " #Mental clouding #Mental fatigue #Mental fog\n", + " definition of HP:0033630 (Brain fog)\n", + " \n", + " \n", + " crossed brainstem sign\n", + " definition of HP:6001101 (crossed brainstem sign)\n", + " \n", + " \n", + " Motor and/or sensory cranial nerve findings ipsilateral to the lesion, and at the same time motor and/or sensory findings on the contralateral side of the body.\n", + " definition of HP:6001101 (crossed brainstem sign)\n", + " \n", + " \n", + " Decreased circulating epinephrine concentration\n", + " definition of HP:0034873 (Decreased circulating epinephrine concentration)\n", + " \n", + " \n", + " Concentration of epinephrin in the blood circulation below the lower limit of normal.\n", + " definition of HP:0034873 (Decreased circulating epinephrine concentration)\n", + " \n", + " \n", + " Midline facial cleft\n", + " definition of HP:0100629 (Midline facial cleft)\n", + " \n", + " \n", + " A congenital malformation with a cleft (gap or opening) in the midline of the face.\n", + " definition of HP:0100629 (Midline facial cleft)\n", + " \n", + " \n", + " #Midline facial cleft\n", + " definition of HP:0100629 (Midline facial cleft)\n", + " \n", + " \n", + " Medullary thyroid carcinoma\n", + " definition of HP:0002865 (Medullary thyroid carcinoma)\n", + " \n", + " \n", + " The presence of a medullary carcinoma of the thyroid gland.\n", + " definition of HP:0002865 (Medullary thyroid carcinoma)\n", + " \n", + " \n", + " Calcium phosphate crystalluria\n", + " definition of HP:0020144 (Calcium phosphate crystalluria)\n", + " \n", + " \n", + " The presence of calcium phosphate crystals in the urine.\n", + " definition of HP:0020144 (Calcium phosphate crystalluria)\n", + " \n", + " \n", + " Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis\n", + " definition of HP:0011658 (Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis)\n", + " \n", + " \n", + " A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.\n", + " definition of HP:0011658 (Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis)\n", + " \n", + " \n", + " #DORV with subpulmonary VSD without pulmonary stenosis #Taussig-Bing anomaly\n", + " definition of HP:0011658 (Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis)\n", + " \n", + " \n", + " Aggression toward non-caregivers\n", + " definition of HP:5200127 (Aggression toward non-caregivers)\n", + " \n", + " \n", + " Aggression that is directed towards non-caregivers.\n", + " definition of HP:5200127 (Aggression toward non-caregivers)\n", + " \n", + " \n", + " Bullet-shaped middle phalanx of the 4th toe\n", + " definition of HP:0100435 (Bullet-shaped middle phalanx of the 4th toe)\n", + " \n", + " \n", + " An abnormal morphology of the middle phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.\n", + " definition of HP:0100435 (Bullet-shaped middle phalanx of the 4th toe)\n", + " \n", + " \n", + " #Bullet-shaped middle bone of the 4th toe\n", + " definition of HP:0100435 (Bullet-shaped middle phalanx of the 4th toe)\n", + " \n", + " \n", + " Pulmonary situs inversus\n", + " definition of HP:0011616 (Pulmonary situs inversus)\n", + " \n", + " \n", + " Mirror image arrangement of the mainstem bronchi with the right pulmonary artery posterior to the right upper lobe bronchus and the left pulmonary artery anterior to the left upper lobe bronchus.\n", + " definition of HP:0011616 (Pulmonary situs inversus)\n", + " \n", + " \n", + " Dystonic gait\n", + " definition of HP:0031954 (Dystonic gait)\n", + " \n", + " \n", + " Dystonic gait disorders frequently appear bizarre, particularly because activity increases dystonic tonus and posture. The abnormal posture of the foot in dystonic gait typically involves inversion, plantar flexion and tonic extension of the big toe. In many patients complex types of walking, such as walking backwards and running are paradoxically less impaired than walking forward and may seem completely unaffected. Sensory tricks, for instance, if the affected individual rests a hand on his or her neck, may improve or even normalize dystonic gait in some patients.\n", + " definition of HP:0031954 (Dystonic gait)\n", + " \n", + " \n", + " Abnormal neutrophil count\n", + " definition of HP:0011991 (Abnormal neutrophil count)\n", + " \n", + " \n", + " A deviation from the normal range of neutrophil cell counts in the circulation.\n", + " definition of HP:0011991 (Abnormal neutrophil count)\n", + " \n", + " \n", + " #Abnormal neutrophil cell number\n", + " definition of HP:0011991 (Abnormal neutrophil count)\n", + " \n", + " \n", + " Partial anomalous pulmonary venous return\n", + " definition of HP:0010773 (Partial anomalous pulmonary venous return)\n", + " \n", + " \n", + " A form of anomalous pulmonary venous return in which not all pulmonary veins drain abnormally. Partial anomalous pulmonary venous return frequently involves one or both of the veins from one lung.\n", + " definition of HP:0010773 (Partial anomalous pulmonary venous return)\n", + " \n", + " \n", + " #Partial anomalous pulmonary venous connection\n", + " definition of HP:0010773 (Partial anomalous pulmonary venous return)\n", + " \n", + " \n", + " Decreased CSF/serum albumin ratio\n", + " definition of HP:0030978 (Decreased CSF/serum albumin ratio)\n", + " \n", + " \n", + " A reduction below normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration.\n", + " definition of HP:0030978 (Decreased CSF/serum albumin ratio)\n", + " \n", + " \n", + " Short distal phalanx of finger\n", + " definition of HP:0009882 (Short distal phalanx of finger)\n", + " \n", + " \n", + " Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.\n", + " definition of HP:0009882 (Short distal phalanx of finger)\n", + " \n", + " \n", + " #Brachytelophalangy #Distal phalangeal hypoplasia #Hypoplasia of the distal phalanges #Hypoplasia of the distal phalanges of the hand #Hypoplastic distal phalanges #Hypoplastic terminal phalanges #Short distal phalanges #Short outermost finger bone #Terminal phalangeal hypoplasia of hand\n", + " definition of HP:0009882 (Short distal phalanx of finger)\n", + " \n", + " \n", + " Addictive stimulant use\n", + " definition of HP:0033512 (Addictive stimulant use)\n", + " \n", + " \n", + " Addiction to a stimulant drug is defined as a drug that typically increases alertness, attention, and energy while also elevating blood pressure, heart rate, and breathing.\n", + " definition of HP:0033512 (Addictive stimulant use)\n", + " \n", + " \n", + " #Stimulant addiction #Stimulant dependence\n", + " definition of HP:0033512 (Addictive stimulant use)\n", + " \n", + " \n", + " Increased mannosylation of N-linked protein glycosylation\n", + " definition of HP:0012357 (Increased mannosylation of N-linked protein glycosylation)\n", + " \n", + " \n", + " Increased addition of mannose to N-linked glycans.\n", + " definition of HP:0012357 (Increased mannosylation of N-linked protein glycosylation)\n", + " \n", + " \n", + " Hypertension resistant to conventional therapy\n", + " definition of HP:0430034 (Hypertension resistant to conventional therapy)\n", + " \n", + " \n", + " Resistant hypertension is defined as above-goal elevated blood pressure in a patient despite the concurrent use of 3 antihypertensive drug classes, commonly including a long-acting calcium channel blocker, a blocker of the renin-angiotensin system (angiotensin-converting enzyme inhibitor or angiotensin receptor blocker), and a diuretic.\n", + " definition of HP:0430034 (Hypertension resistant to conventional therapy)\n", + " \n", + " \n", + " #Resistant hypertension\n", + " definition of HP:0430034 (Hypertension resistant to conventional therapy)\n", + " \n", + " \n", + " Perifascicular muscle fiber atrophy\n", + " definition of HP:0100296 (Perifascicular muscle fiber atrophy)\n", + " \n", + " \n", + " #Perifascicular muscle fibre atrophy\n", + " definition of HP:0100296 (Perifascicular muscle fiber atrophy)\n", + " \n", + " \n", + " Multiple eyelid margin cysts\n", + " definition of HP:0034946 (Multiple eyelid margin cysts)\n", + " \n", + " \n", + " Presence of many apocrine hidrocystoma (cysts) on the margins of the eyelids.\n", + " definition of HP:0034946 (Multiple eyelid margin cysts)\n", + " \n", + " \n", + " #Multiple eyelid-margin apocrine hidrocystomas\n", + " definition of HP:0034946 (Multiple eyelid margin cysts)\n", + " \n", + " \n", + " Leber optic atrophy\n", + " definition of HP:0001112 (Leber optic atrophy)\n", + " \n", + " \n", + " Degeneration of retinal ganglion cells and their axons.\n", + " definition of HP:0001112 (Leber optic atrophy)\n", + " \n", + " \n", + " #Leber optic atrophy features #Leber optic degeneration\n", + " definition of HP:0001112 (Leber optic atrophy)\n", + " \n", + " \n", + " Long-bone fracture\n", + " definition of HP:0025736 (Long-bone fracture)\n", + " \n", + " \n", + " A partial or complete breakage of a lone bone (e.g., the femur, tibia, fibula, humerus, radius, and ulna).\n", + " definition of HP:0025736 (Long-bone fracture)\n", + " \n", + " \n", + " Osteolytic defects of the proximal phalanx of the 4th finger\n", + " definition of HP:0009312 (Osteolytic defects of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " Dissolution or degeneration of bone tissue of the proximal phalanx of the 4th finger.\n", + " definition of HP:0009312 (Osteolytic defects of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " High intestinal obstruction\n", + " definition of HP:0005250 (High intestinal obstruction)\n", + " \n", + " \n", + " Left ventricular apical dyskinesis\n", + " definition of HP:6001073 (Left ventricular apical dyskinesis)\n", + " \n", + " \n", + " Dyskinesis is used to describe ventricular muscle segments that bulge outside the left ventricular cavity during systole, as opposed to contracting inwards with the rest of the segments.\n", + " definition of HP:6001073 (Left ventricular apical dyskinesis)\n", + " \n", + " \n", + " Midshaft hypospadias\n", + " definition of HP:0012854 (Midshaft hypospadias)\n", + " \n", + " \n", + " Hypospadias with location of the urethral meatus in the middle of the inferior shaft of the penis.\n", + " definition of HP:0012854 (Midshaft hypospadias)\n", + " \n", + " \n", + " Increased T cell count\n", + " definition of HP:0100828 (Increased T cell count)\n", + " \n", + " \n", + " An abnormal increase in the total number of T cells detected in the blood.\n", + " definition of HP:0100828 (Increased T cell count)\n", + " \n", + " \n", + " #Increase in T cell count #Increase in T cell number\n", + " definition of HP:0100828 (Increased T cell count)\n", + " \n", + " \n", + " Lateral canthal tendon laxity\n", + " definition of HP:0032030 (Lateral canthal tendon laxity)\n", + " \n", + " \n", + " Laxity of the tendon stabilizing the lateral aspect of the tarsal plate to the zygomatic bone. This can result in rounded appearance of the lateral canthus. Also, when the eyelid is pulled medially, more than 2 mm movement of the canthal angle may be observed.\n", + " definition of HP:0032030 (Lateral canthal tendon laxity)\n", + " \n", + " \n", + " Posterior vitreous detachment\n", + " definition of HP:0001489 (Posterior vitreous detachment)\n", + " \n", + " \n", + " Separation of the vitreous humor from the retina.\n", + " definition of HP:0001489 (Posterior vitreous detachment)\n", + " \n", + " \n", + " #Vitreous detachment\n", + " definition of HP:0001489 (Posterior vitreous detachment)\n", + " \n", + " \n", + " Supernumerary finger flexion crease\n", + " definition of HP:6000109 (Supernumerary finger flexion crease)\n", + " \n", + " \n", + " The presence of an extra digital crease in and individual with normal joint anatomy.\n", + " definition of HP:6000109 (Supernumerary finger flexion crease)\n", + " \n", + " \n", + " Digital constriction ring\n", + " definition of HP:0010491 (Digital constriction ring)\n", + " \n", + " \n", + " A narrow segment of significantly reduced circumference of a digit.\n", + " definition of HP:0010491 (Digital constriction ring)\n", + " \n", + " \n", + " #Amniotic constriction rings of digits\n", + " definition of HP:0010491 (Digital constriction ring)\n", + " \n", + " \n", + " Impaired T cell function\n", + " definition of HP:0005435 (Impaired T cell function)\n", + " \n", + " \n", + " Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity.\n", + " definition of HP:0005435 (Impaired T cell function)\n", + " \n", + " \n", + " #Impaired T cell function #T-cell dysfunction\n", + " definition of HP:0005435 (Impaired T cell function)\n", + " \n", + " \n", + " Fixated interest with abnormal focus\n", + " definition of HP:4000077 (Fixated interest with abnormal focus)\n", + " \n", + " \n", + " A fixated interest in a specific topic that is atypical for the social context of the individual, such as topics of a non-social nature like fossils or vacuum cleaners.\n", + " definition of HP:4000077 (Fixated interest with abnormal focus)\n", + " \n", + " \n", + " #Unusual preoccupations\n", + " definition of HP:4000077 (Fixated interest with abnormal focus)\n", + " \n", + " \n", + " Absence of intermediate von Willebrand factor multimers\n", + " definition of HP:0030135 (Absence of intermediate von Willebrand factor multimers)\n", + " \n", + " \n", + " Lack of intermediate von Willebrand Factor multimers on gel electrophoresis.\n", + " definition of HP:0030135 (Absence of intermediate von Willebrand factor multimers)\n", + " \n", + " \n", + " Microvillar PAS-positive secretory granules\n", + " definition of HP:0033996 (Microvillar PAS-positive secretory granules)\n", + " \n", + " \n", + " The presenceaccumulationof periodic acid-Schiff (PAS) granules in the subapical region of small intenstinal microvilli, appearing as different kinds of vesicular/tubular structures.\n", + " definition of HP:0033996 (Microvillar PAS-positive secretory granules)\n", + " \n", + " \n", + " Decreased circulating beta-C-terminal telopeptide concentration\n", + " definition of HP:0031426 (Decreased circulating beta-C-terminal telopeptide concentration)\n", + " \n", + " \n", + " A reduction from the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation.\n", + " definition of HP:0031426 (Decreased circulating beta-C-terminal telopeptide concentration)\n", + " \n", + " \n", + " #Decreased circulating beta-C-terminal telopeptide level #Decreased circulating beta-CrossLaps level #Decreased circulating beta-CTx level\n", + " definition of HP:0031426 (Decreased circulating beta-C-terminal telopeptide concentration)\n", + " \n", + " \n", + " Foveal atrophy\n", + " definition of HP:0025010 (Foveal atrophy)\n", + " \n", + " \n", + " Partial or complete loss of foveal tissue that was once present.\n", + " definition of HP:0025010 (Foveal atrophy)\n", + " \n", + " \n", + " Increased circulating interleukin 13 concentration\n", + " definition of HP:0034488 (Increased circulating interleukin 13 concentration)\n", + " \n", + " \n", + " An increased concentration of interleukin-13 in the blood circulation.\n", + " definition of HP:0034488 (Increased circulating interleukin 13 concentration)\n", + " \n", + " \n", + " #IL-13 high in blood\n", + " definition of HP:0034488 (Increased circulating interleukin 13 concentration)\n", + " \n", + " \n", + " Abnormal shape of the occiput\n", + " definition of HP:0011217 (Abnormal shape of the occiput)\n", + " \n", + " \n", + " An abnormal shape of occiput.\n", + " definition of HP:0011217 (Abnormal shape of the occiput)\n", + " \n", + " \n", + " #Abnormal shape of posterior cranium #Abnormal shape of posterior skull #Abnormal shape of the back of the skull\n", + " definition of HP:0011217 (Abnormal shape of the occiput)\n", + " \n", + " \n", + " Positive CSF human T-lymphotropic virus type I antibody positivity\n", + " definition of HP:6000730 (Positive CSF human T-lymphotropic virus type I antibody positivity)\n", + " \n", + " \n", + " The presence of antibodies in the cerebrospinal fluid (CSF) that react against a component of human T-lymphotropic virus type I.\n", + " definition of HP:6000730 (Positive CSF human T-lymphotropic virus type I antibody positivity)\n", + " \n", + " \n", + " #Positive CSF HTLV-1 antibody positivity\n", + " definition of HP:6000730 (Positive CSF human T-lymphotropic virus type I antibody positivity)\n", + " \n", + " \n", + " EEG with temporal focal spike waves\n", + " definition of HP:0012013 (EEG with temporal focal spike waves)\n", + " \n", + " \n", + " EEG with focal sharp transient waves in the temporal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.\n", + " definition of HP:0012013 (EEG with temporal focal spike waves)\n", + " \n", + " \n", + " Melanoma\n", + " definition of HP:0002861 (Melanoma)\n", + " \n", + " \n", + " The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea).\n", + " definition of HP:0002861 (Melanoma)\n", + " \n", + " \n", + " #Malignant melanoma\n", + " definition of HP:0002861 (Melanoma)\n", + " \n", + " \n", + " Patent ductus arteriosus after premature birth\n", + " definition of HP:0011649 (Patent ductus arteriosus after premature birth)\n", + " \n", + " \n", + " Abnormal persistent patency of the ductus arteriosus when birth was at less than 37 weeks completed gestation.\n", + " definition of HP:0011649 (Patent ductus arteriosus after premature birth)\n", + " \n", + " \n", + " Abnormal autonomic nervous system physiology\n", + " definition of HP:0012332 (Abnormal autonomic nervous system physiology)\n", + " \n", + " \n", + " A functional abnormality of the autonomic nervous system.\n", + " definition of HP:0012332 (Abnormal autonomic nervous system physiology)\n", + " \n", + " \n", + " #Autonomic dysfunction #Autonomic dysregulation #Dysautonomia\n", + " definition of HP:0012332 (Abnormal autonomic nervous system physiology)\n", + " \n", + " \n", + " Abnormality of the first metatarsal bone\n", + " definition of HP:0010054 (Abnormality of the first metatarsal bone)\n", + " \n", + " \n", + " An anomaly of the first metatarsal bone.\n", + " definition of HP:0010054 (Abnormality of the first metatarsal bone)\n", + " \n", + " \n", + " #Abnormality of the 1st long bone of foot\n", + " definition of HP:0010054 (Abnormality of the first metatarsal bone)\n", + " \n", + " \n", + " Abnormal proportion of memory B cells\n", + " definition of HP:0030373 (Abnormal proportion of memory B cells)\n", + " \n", + " \n", + " A deviation of the normal proportion of memory B cells in circulation relative to total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV).\n", + " definition of HP:0030373 (Abnormal proportion of memory B cells)\n", + " \n", + " \n", + " Highly arched eyebrow\n", + " definition of HP:0002553 (Highly arched eyebrow)\n", + " \n", + " \n", + " Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape.\n", + " definition of HP:0002553 (Highly arched eyebrow)\n", + " \n", + " \n", + " #Arched eyebrows #Broad, arched eyebrows #High, rounded eyebrows #High-arched eyebrows #Highly arched eyebrow #Thick, flared eyebrows\n", + " definition of HP:0002553 (Highly arched eyebrow)\n", + " \n", + " \n", + " Slowly progressive\n", + " definition of HP:0003677 (Slowly progressive)\n", + " \n", + " \n", + " Applies to a disease manifestation that only slowly increases in scope or severity over the course of time.\n", + " definition of HP:0003677 (Slowly progressive)\n", + " \n", + " \n", + " #Signs and symptoms worsen slowly with time #Slow disease progression #Slow progression #Slowly progressive disorder\n", + " definition of HP:0003677 (Slowly progressive)\n", + " \n", + " \n", + " Hypervigilance\n", + " definition of HP:5200231 (Hypervigilance)\n", + " \n", + " \n", + " A heightened alertness is characterized by a broad awareness and/or excessive scanning of environmental stimuli.\n", + " definition of HP:5200231 (Hypervigilance)\n", + " \n", + " \n", + " Elevated circulating isovalerylcarnitine concentration\n", + " definition of HP:0033447 (Elevated circulating isovalerylcarnitine concentration)\n", + " \n", + " \n", + " Concentration of O-isovalerylcarnitine in the blood circulation above the upper limit of normal.\n", + " definition of HP:0033447 (Elevated circulating isovalerylcarnitine concentration)\n", + " \n", + " \n", + " #Elevated circulating O-isovalerylcarnitine concentration\n", + " definition of HP:0033447 (Elevated circulating isovalerylcarnitine concentration)\n", + " \n", + " \n", + " Decreased prothrombin time\n", + " definition of HP:0032198 (Decreased prothrombin time)\n", + " \n", + " \n", + " Abnormally short time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT.\n", + " definition of HP:0032198 (Decreased prothrombin time)\n", + " \n", + " \n", + " #Decreased INR #Decreased international normalised ratio #Decreased international normalized ratio #Decreased PT\n", + " definition of HP:0032198 (Decreased prothrombin time)\n", + " \n", + " \n", + " Bicuspid aortic valve with right-noncoronary cusp fusion\n", + " definition of HP:0031120 (Bicuspid aortic valve with right-noncoronary cusp fusion)\n", + " \n", + " \n", + " A type of bicuspid aortic valve (BAV) characterized by a single raphe between the right and noncoronary cusps (RN fusion pattern). This results in two leaflets with right-left leaflet orientation (also called the atypical pattern). There is thus one completely developed left cusp, two completely developed commissures, and one raphe between the underdeveloped right and noncoronary coronary cusps extending to the corresponding malformed commissure.\n", + " definition of HP:0031120 (Bicuspid aortic valve with right-noncoronary cusp fusion)\n", + " \n", + " \n", + " Melanin pigment aggregation in hair shafts\n", + " definition of HP:0002220 (Melanin pigment aggregation in hair shafts)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the sweat glands\n", + " definition of HP:0011135 (Aplasia/Hypoplasia of the sweat glands)\n", + " \n", + " \n", + " Absence or developmental hypoplasia of the sweat glands.\n", + " definition of HP:0011135 (Aplasia/Hypoplasia of the sweat glands)\n", + " \n", + " \n", + " #Absent/small sweat glands #Absent/underdeveloped sweat glands\n", + " definition of HP:0011135 (Aplasia/Hypoplasia of the sweat glands)\n", + " \n", + " \n", + " Subepithelial corneal opacities\n", + " definition of HP:0008039 (Subepithelial corneal opacities)\n", + " \n", + " \n", + " 4-5 toe syndactyly\n", + " definition of HP:0004692 (4-5 toe syndactyly)\n", + " \n", + " \n", + " Syndactyly with fusion of toes four and five.\n", + " definition of HP:0004692 (4-5 toe syndactyly)\n", + " \n", + " \n", + " #Symmetric syndactyly, toes 4 and 5 #Syndactyly of toes 4 and 5 #Webbed 4th-5th toes\n", + " definition of HP:0004692 (4-5 toe syndactyly)\n", + " \n", + " \n", + " Focal impaired awareness autonomic seizure with lacrimation\n", + " definition of HP:0032782 (Focal impaired awareness autonomic seizure with lacrimation)\n", + " \n", + " \n", + " A focal autonomic seizure with lacrimation characterized by impaired awareness at some point during the seizure.\n", + " definition of HP:0032782 (Focal impaired awareness autonomic seizure with lacrimation)\n", + " \n", + " \n", + " Insistence on sameness\n", + " definition of HP:5200130 (Insistence on sameness)\n", + " \n", + " \n", + " Oblique fracture\n", + " definition of HP:4000046 (Oblique fracture)\n", + " \n", + " \n", + " A type of fracture in which there is a diagonal break across the bone.\n", + " definition of HP:4000046 (Oblique fracture)\n", + " \n", + " \n", + " Prenatal flattened diaphragm\n", + " definition of HP:6000340 (Prenatal flattened diaphragm)\n", + " \n", + " \n", + " The diaphragm normally projects up into the thoracic cavity. In the presence of malformations such as enlarged lungs, the diaphragm may appear abnormally flat or even everted (with the middle of the diaphragm projecting downwards into the abdominal cavity).\n", + " definition of HP:6000340 (Prenatal flattened diaphragm)\n", + " \n", + " \n", + " Hepatocellular necrosis\n", + " definition of HP:0001404 (Hepatocellular necrosis)\n", + " \n", + " \n", + " #Death of liver cells #Hepatocellular loss\n", + " definition of HP:0001404 (Hepatocellular necrosis)\n", + " \n", + " \n", + " Elevated CSF proline concentration\n", + " definition of HP:0034743 (Elevated CSF proline concentration)\n", + " \n", + " \n", + " Concentration of proline in the cerebrospinal fluid (CSF) above the upper limit of normal.\n", + " definition of HP:0034743 (Elevated CSF proline concentration)\n", + " \n", + " \n", + " Abnormal circulating properdin level\n", + " definition of HP:0031300 (Abnormal circulating properdin level)\n", + " \n", + " \n", + " A deviation from the normal concentration of properdin in the blood.\n", + " definition of HP:0031300 (Abnormal circulating properdin level)\n", + " \n", + " \n", + " Acral ulceration\n", + " definition of HP:0006121 (Acral ulceration)\n", + " \n", + " \n", + " A type of digital ulcer that manifests as an open sore on the surface of the skin at the tip of a finger or toe.\n", + " definition of HP:0006121 (Acral ulceration)\n", + " \n", + " \n", + " EEG with generalized slow activity grade 3\n", + " definition of HP:0011208 (EEG with generalized slow activity grade 3)\n", + " \n", + " \n", + " Generalized slowing of EEG activity at frequencies between 0.5-3 Hz.\n", + " definition of HP:0011208 (EEG with generalized slow activity grade 3)\n", + " \n", + " \n", + " #EEG with generalised slow activity grade 3\n", + " definition of HP:0011208 (EEG with generalized slow activity grade 3)\n", + " \n", + " \n", + " Expanded metacarpals with widened medullary cavities\n", + " definition of HP:0006232 (Expanded metacarpals with widened medullary cavities)\n", + " \n", + " \n", + " Delayed proximal femoral epiphyseal ossification\n", + " definition of HP:0008828 (Delayed proximal femoral epiphyseal ossification)\n", + " \n", + " \n", + " Developmental delay of ossification of the proximal epiphysis of the femur.\n", + " definition of HP:0008828 (Delayed proximal femoral epiphyseal ossification)\n", + " \n", + " \n", + " #Delayed ossification of the proximal femoral epiphysis #Delayed ossification proximal femoral epiphyses\n", + " definition of HP:0008828 (Delayed proximal femoral epiphyseal ossification)\n", + " \n", + " \n", + " Focal impaired awareness sensory seizure with gustatory features\n", + " definition of HP:0032897 (Focal impaired awareness sensory seizure with gustatory features)\n", + " \n", + " \n", + " A focal sensory seizure with gustatory features in which awareness is partially or fully impaired at some point during the seizure.\n", + " definition of HP:0032897 (Focal impaired awareness sensory seizure with gustatory features)\n", + " \n", + " \n", + " Truncal obesity\n", + " definition of HP:0001956 (Truncal obesity)\n", + " \n", + " \n", + " Obesity located preferentially in the trunk of the body as opposed to the extremities.\n", + " definition of HP:0001956 (Truncal obesity)\n", + " \n", + " \n", + " #Centripetal obesity #Truncal obesity\n", + " definition of HP:0001956 (Truncal obesity)\n", + " \n", + " \n", + " Reduced erythrocyte glutathione reductase activity\n", + " definition of HP:6000525 (Reduced erythrocyte glutathione reductase activity)\n", + " \n", + " \n", + " Activity of glutathione reductase (EC 1.6.4.2) in erythrocytes below the lower limit of normal.\n", + " definition of HP:6000525 (Reduced erythrocyte glutathione reductase activity)\n", + " \n", + " \n", + " Elevated urinary L-glycerate level\n", + " definition of HP:6000670 (Elevated urinary L-glycerate level)\n", + " \n", + " \n", + " The amount of L-glycerate in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000670 (Elevated urinary L-glycerate level)\n", + " \n", + " \n", + " Abnormal platelet granule secretion\n", + " definition of HP:0030396 (Abnormal platelet granule secretion)\n", + " \n", + " \n", + " Platelets are replete with secretory granules, which are critical to normal platelet function. Among the three types of platelet secretory granules - alpha-granules, dense granules, and lysosomes - the alpha-granule is the most abundant. Granule contents must be released from their intracellular repository in order to achieve their physiologic function, and this term refers to a functional defect in granule secretion.\n", + " definition of HP:0030396 (Abnormal platelet granule secretion)\n", + " \n", + " \n", + " Anti-H2B antibody positivity\n", + " definition of HP:0033576 (Anti-H2B antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies in the blood circulation that react against histone H2B.\n", + " definition of HP:0033576 (Anti-H2B antibody positivity)\n", + " \n", + " \n", + " Deep dermal perivascular inflammatory infiltrate\n", + " definition of HP:0031191 (Deep dermal perivascular inflammatory infiltrate)\n", + " \n", + " \n", + " Numerous lymphocytes surrounding blood vessels in the deep part of the dermis.\n", + " definition of HP:0031191 (Deep dermal perivascular inflammatory infiltrate)\n", + " \n", + " \n", + " #Deep perivascular inflammatory infiltrate\n", + " definition of HP:0031191 (Deep dermal perivascular inflammatory infiltrate)\n", + " \n", + " \n", + " Hyperextensible skin of face\n", + " definition of HP:0007425 (Hyperextensible skin of face)\n", + " \n", + " \n", + " #Hyperelastic face skin #Stretchable face skin\n", + " definition of HP:0007425 (Hyperextensible skin of face)\n", + " \n", + " \n", + " Focal sensory seizure with cephalic sensation\n", + " definition of HP:0032810 (Focal sensory seizure with cephalic sensation)\n", + " \n", + " \n", + " A seizure characterized by a sensation in the head such as light-headedness or headache as its first clinical manifestation.\n", + " definition of HP:0032810 (Focal sensory seizure with cephalic sensation)\n", + " \n", + " \n", + " #Cephalic aura #Focal seizure with cephalic sensation #Partial seizure with cephalic sensation\n", + " definition of HP:0032810 (Focal sensory seizure with cephalic sensation)\n", + " \n", + " \n", + " Varus deformity of humeral neck\n", + " definition of HP:0006362 (Varus deformity of humeral neck)\n", + " \n", + " \n", + " Reduced fibroblast CD16 level\n", + " definition of HP:0031559 (Reduced fibroblast CD16 level)\n", + " \n", + " \n", + " Reduced level of CD16 on the fibroblast surface as assessed by flow cytometry.\n", + " definition of HP:0031559 (Reduced fibroblast CD16 level)\n", + " \n", + " \n", + " Abnormal bowel sounds\n", + " definition of HP:0030142 (Abnormal bowel sounds)\n", + " \n", + " \n", + " An anomaly of the amount or nature of abdominal sounds. Abdominal sounds (bowel sounds) are made by the movement of the intestines as they promote passage of abdominal contents by peristalsis.\n", + " definition of HP:0030142 (Abnormal bowel sounds)\n", + " \n", + " \n", + " #Abnormal bowel sounds\n", + " definition of HP:0030142 (Abnormal bowel sounds)\n", + " \n", + " \n", + " Digital ischemia\n", + " definition of HP:0033402 (Digital ischemia)\n", + " \n", + " \n", + " Restriction of arterial blood supply to a digit (finger or toe) associated with insufficient oxygenation to support the metabolic requirements of the digit. Clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis.\n", + " definition of HP:0033402 (Digital ischemia)\n", + " \n", + " \n", + " Abnormal odontoid tissue morphology\n", + " definition of HP:3000050 (Abnormal odontoid tissue morphology)\n", + " \n", + " \n", + " An abnormality of an odontoid tissue.\n", + " definition of HP:3000050 (Abnormal odontoid tissue morphology)\n", + " \n", + " \n", + " #Abnormality of hard tissues of teeth #Abnormality of odontoid tissue #Abnormality of tooth hard tissue\n", + " definition of HP:3000050 (Abnormal odontoid tissue morphology)\n", + " \n", + " \n", + " Increased circulating IgG2 level\n", + " definition of HP:0032299 (Increased circulating IgG2 level)\n", + " \n", + " \n", + " An abnormally increased concentration of the IgG2 subtype in the blood circulation.\n", + " definition of HP:0032299 (Increased circulating IgG2 level)\n", + " \n", + " \n", + " Increased resting energy expenditure\n", + " definition of HP:0012339 (Increased resting energy expenditure)\n", + " \n", + " \n", + " An increase in the number of calories used per unit time.\n", + " definition of HP:0012339 (Increased resting energy expenditure)\n", + " \n", + " \n", + " Staccato cry\n", + " definition of HP:0025431 (Staccato cry)\n", + " \n", + " \n", + " A type of cry that is abnormal because it is consists of unusually shortened and detached vocalizations.\n", + " definition of HP:0025431 (Staccato cry)\n", + " \n", + " \n", + " Lymph node with expanded mantle zones\n", + " definition of HP:0020253 (Lymph node with expanded mantle zones)\n", + " \n", + " \n", + " Enlargement of the typical outer ring of small lymphocytes (mantle zone) surrounding a germinal center of a lymph node.\n", + " definition of HP:0020253 (Lymph node with expanded mantle zones)\n", + " \n", + " \n", + " #Germinal centers with expanded mantle zones #Germinal centres with expanded mantle zones\n", + " definition of HP:0020253 (Lymph node with expanded mantle zones)\n", + " \n", + " \n", + " Congruous heteronymous hemianopia\n", + " definition of HP:0030519 (Congruous heteronymous hemianopia)\n", + " \n", + " \n", + " Abnormal cutaneous elastic fiber morphology\n", + " definition of HP:0025082 (Abnormal cutaneous elastic fiber morphology)\n", + " \n", + " \n", + " Any structural anomaly of the elastic fibers of the skin. Elastic fibers are the essential extracellular matrix macromolecules comprising an elastin core surrounded by a mantle of fibrillin-rich microfibrils.\n", + " definition of HP:0025082 (Abnormal cutaneous elastic fiber morphology)\n", + " \n", + " \n", + " #Abnormal cutaneous elastic fibre morphology\n", + " definition of HP:0025082 (Abnormal cutaneous elastic fiber morphology)\n", + " \n", + " \n", + " Stiff finger\n", + " definition of HP:0025261 (Stiff finger)\n", + " \n", + " \n", + " A sensation of tightness in a finger joint when attempting to move it, especially after a period of inactivity.\n", + " definition of HP:0025261 (Stiff finger)\n", + " \n", + " \n", + " #Finger stiffness #Stiff finger\n", + " definition of HP:0025261 (Stiff finger)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the nasal septum\n", + " definition of HP:0009935 (Aplasia/Hypoplasia of the nasal septum)\n", + " \n", + " \n", + " Absence or underdevelopment of the nasal septum.\n", + " definition of HP:0009935 (Aplasia/Hypoplasia of the nasal septum)\n", + " \n", + " \n", + " #Ageneis of nasal septum #Underdevelopment of nasal septum\n", + " definition of HP:0009935 (Aplasia/Hypoplasia of the nasal septum)\n", + " \n", + " \n", + " Hypoplasia of the uterus\n", + " definition of HP:0000013 (Hypoplasia of the uterus)\n", + " \n", + " \n", + " Underdevelopment of the uterus.\n", + " definition of HP:0000013 (Hypoplasia of the uterus)\n", + " \n", + " \n", + " #Hypoplastic uterus #Rudimentary uterus #Small uterus #Underdeveloped uterus\n", + " definition of HP:0000013 (Hypoplasia of the uterus)\n", + " \n", + " \n", + " Multicentric ossification of proximal humeral epiphyses\n", + " definition of HP:0004997 (Multicentric ossification of proximal humeral epiphyses)\n", + " \n", + " \n", + " Deviated nasal tip\n", + " definition of HP:0011831 (Deviated nasal tip)\n", + " \n", + " \n", + " Nasal tip positioned to one side of the midline.\n", + " definition of HP:0011831 (Deviated nasal tip)\n", + " \n", + " \n", + " #Asymmetry of nasal tip #Asymmetry of tip of nose #Crooked nasal tip #Crooked tip of nose #Deviated nasal tip #Deviated tip of nose #Nasal tip, deviated\n", + " definition of HP:0011831 (Deviated nasal tip)\n", + " \n", + " \n", + " Alternating laterality\n", + " definition of HP:4000152 (Alternating laterality)\n", + " \n", + " \n", + " Occurring on the left and right in succession. This term can refer to alternating sides of the body (e.g., Alternating hemiplegia) or alternative sides of the visual field (e.g., some migraine auras).\n", + " definition of HP:4000152 (Alternating laterality)\n", + " \n", + " \n", + " #Alternating sides of the body\n", + " definition of HP:4000152 (Alternating laterality)\n", + " \n", + " \n", + " Glutaric aciduria\n", + " definition of HP:0003150 (Glutaric aciduria)\n", + " \n", + " \n", + " The concentration of glutaric acid in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:0003150 (Glutaric aciduria)\n", + " \n", + " \n", + " #Glutarate aciduria #Glutaricaciduria #Increased glutarate level in urine\n", + " definition of HP:0003150 (Glutaric aciduria)\n", + " \n", + " \n", + " Decreased mean platelet volume\n", + " definition of HP:0005537 (Decreased mean platelet volume)\n", + " \n", + " \n", + " Average platelet volume below the lower limit of the normal reference interval.\n", + " definition of HP:0005537 (Decreased mean platelet volume)\n", + " \n", + " \n", + " #Small platelet size #Small platelets #Small platelets size\n", + " definition of HP:0005537 (Decreased mean platelet volume)\n", + " \n", + " \n", + " Plethora\n", + " definition of HP:0001050 (Plethora)\n", + " \n", + " \n", + " Diaphragmatic paralysis\n", + " definition of HP:0006597 (Diaphragmatic paralysis)\n", + " \n", + " \n", + " The presence of a paralyzed diaphragm.\n", + " definition of HP:0006597 (Diaphragmatic paralysis)\n", + " \n", + " \n", + " #Diaphragmatic paralysis #Paralysed diaphragm #Paralyzed diaphragm\n", + " definition of HP:0006597 (Diaphragmatic paralysis)\n", + " \n", + " \n", + " Silhouette sign\n", + " definition of HP:0033647 (Silhouette sign)\n", + " \n", + " \n", + " The silhouette sign is the absence of depiction of an anatomic soft-tissue border. It is caused by consolidation and/or atelectasis of the adjacent lung, by a large mass, or by contiguous pleural fluid. The silhouette sign results from the juxtaposition of structures of similar radiographic attenuation. The sign actually refers to the absence of a silhouette.\n", + " definition of HP:0033647 (Silhouette sign)\n", + " \n", + " \n", + " Narrow greater sciatic notch\n", + " definition of HP:0003375 (Narrow greater sciatic notch)\n", + " \n", + " \n", + " A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium.\n", + " definition of HP:0003375 (Narrow greater sciatic notch)\n", + " \n", + " \n", + " #Narrow greater sacrosciatic notches #Narrow sacroiliac notch #Narrow sacrosciatic notch #Narrow sciatic notches #Narrowed greater sciatic notch #Narrowed sacrosciatic notch #Small sacrosciatic notch #Small sacrosciatic notches\n", + " definition of HP:0003375 (Narrow greater sciatic notch)\n", + " \n", + " \n", + " Cerebellar atrophy\n", + " definition of HP:0001272 (Cerebellar atrophy)\n", + " \n", + " \n", + " Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.\n", + " definition of HP:0001272 (Cerebellar atrophy)\n", + " \n", + " \n", + " #Atrophic cerebellum #Degeneration of cerebellum\n", + " definition of HP:0001272 (Cerebellar atrophy)\n", + " \n", + " \n", + " Reduced brain choline level by MRS\n", + " definition of HP:0025048 (Reduced brain choline level by MRS)\n", + " \n", + " \n", + " An decrease in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS).\n", + " definition of HP:0025048 (Reduced brain choline level by MRS)\n", + " \n", + " \n", + " #Reduced brain choline level by magnetic resonance spectroscopy\n", + " definition of HP:0025048 (Reduced brain choline level by MRS)\n", + " \n", + " \n", + " Symphalangism of the proximal phalanx of the 4th finger with the 4th metacarpal\n", + " definition of HP:0009478 (Symphalangism of the proximal phalanx of the 4th finger with the 4th metacarpal)\n", + " \n", + " \n", + " Fusion of the proximal phalanx of the 4th finger with the 4th metacarpal.\n", + " definition of HP:0009478 (Symphalangism of the proximal phalanx of the 4th finger with the 4th metacarpal)\n", + " \n", + " \n", + " #Fused innermost bone of ring finger with 4th long bone of hand\n", + " definition of HP:0009478 (Symphalangism of the proximal phalanx of the 4th finger with the 4th metacarpal)\n", + " \n", + " \n", + " Exercise-induced leg cramps\n", + " definition of HP:0008991 (Exercise-induced leg cramps)\n", + " \n", + " \n", + " Sudden and involuntary contractions of one or more muscles of the leg brought on by physical exertion.\n", + " definition of HP:0008991 (Exercise-induced leg cramps)\n", + " \n", + " \n", + " Skin rash\n", + " definition of HP:0000988 (Skin rash)\n", + " \n", + " \n", + " A red eruption of the skin.\n", + " definition of HP:0000988 (Skin rash)\n", + " \n", + " \n", + " #Skin rash\n", + " definition of HP:0000988 (Skin rash)\n", + " \n", + " \n", + " Abnormal descending aorta morphology\n", + " definition of HP:0031934 (Abnormal descending aorta morphology)\n", + " \n", + " \n", + " A structural abnormality of the part of the aorta that begins at the aortic arch and then descends through the chest and abdomen.\n", + " definition of HP:0031934 (Abnormal descending aorta morphology)\n", + " \n", + " \n", + " Abnormal protein glycosylation\n", + " definition of HP:0012346 (Abnormal protein glycosylation)\n", + " \n", + " \n", + " An anomaly of a protein glycosylation process, i.e., of a protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins.\n", + " definition of HP:0012346 (Abnormal protein glycosylation)\n", + " \n", + " \n", + " Neoplasm of the thymus\n", + " definition of HP:0100521 (Neoplasm of the thymus)\n", + " \n", + " \n", + " A tumor (abnormal growth of tissue) of the thymus.\n", + " definition of HP:0100521 (Neoplasm of the thymus)\n", + " \n", + " \n", + " Prominent subcalcaneal fat pad\n", + " definition of HP:0032276 (Prominent subcalcaneal fat pad)\n", + " \n", + " \n", + " Abnormally increased prominence of the fat pad underneath the heal. This feature can be appreciated in figure 1 of PMID:26769062.\n", + " definition of HP:0032276 (Prominent subcalcaneal fat pad)\n", + " \n", + " \n", + " Animal dander allergy\n", + " definition of HP:0410321 (Animal dander allergy)\n", + " \n", + " \n", + " Hypersensitivity in form of an adverse immune reaction against animal dander.\n", + " definition of HP:0410321 (Animal dander allergy)\n", + " \n", + " \n", + " #Allergy to animal dander #Animal dander allergy #IgE-mediated animal dander allergy #Immunoglobulin E-mediated animal dander allergy\n", + " definition of HP:0410321 (Animal dander allergy)\n", + " \n", + " \n", + " Stooped posture\n", + " definition of HP:0025403 (Stooped posture)\n", + " \n", + " \n", + " A habitual positioning of the body with the head and upper back bent forward.\n", + " definition of HP:0025403 (Stooped posture)\n", + " \n", + " \n", + " Decreased specific pneumococcal antibody level\n", + " definition of HP:0012476 (Decreased specific pneumococcal antibody level)\n", + " \n", + " \n", + " The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against pneumococci.\n", + " definition of HP:0012476 (Decreased specific pneumococcal antibody level)\n", + " \n", + " \n", + " #Low pneumococcal antibody titer #Specific pneumococcal antibody deficiency\n", + " definition of HP:0012476 (Decreased specific pneumococcal antibody level)\n", + " \n", + " \n", + " Triangular shaped phalanges of the 5th toe\n", + " definition of HP:0010390 (Triangular shaped phalanges of the 5th toe)\n", + " \n", + " \n", + " #Triangular shaped little toe bone #Triangular shaped pinkie toe bone #Triangular shaped pinky toe bone\n", + " definition of HP:0010390 (Triangular shaped phalanges of the 5th toe)\n", + " \n", + " \n", + " Excessive dental attrition\n", + " definition of HP:4000181 (Excessive dental attrition)\n", + " \n", + " \n", + " A higher than expected amount of attrition of teeth, as menifested by loss of tooth characteristics including rounding or sharpening of incisal edges, loss of cusps, and fracturing of teeth, to an extent that is deemed more than would be expected at a given age.\n", + " definition of HP:4000181 (Excessive dental attrition)\n", + " \n", + " \n", + " #Excessive tooth attrition #Excessive wear and tear on teeth\n", + " definition of HP:4000181 (Excessive dental attrition)\n", + " \n", + " \n", + " Fractured epiphysis of fourth metacarpal bone\n", + " definition of HP:0041192 (Fractured epiphysis of fourth metacarpal bone)\n", + " \n", + " \n", + " A partial or complete breakage of the epiphysis of fourth metacarpal bone.\n", + " definition of HP:0041192 (Fractured epiphysis of fourth metacarpal bone)\n", + " \n", + " \n", + " #bone epiphysis of fourth metacarpal bone\n", + " definition of HP:0041192 (Fractured epiphysis of fourth metacarpal bone)\n", + " \n", + " \n", + " Cone-shaped epiphyses of the 4th toe\n", + " definition of HP:0100068 (Cone-shaped epiphyses of the 4th toe)\n", + " \n", + " \n", + " #Cone-shaped end part of the 4th toe bone\n", + " definition of HP:0100068 (Cone-shaped epiphyses of the 4th toe)\n", + " \n", + " \n", + " 1-5 toe syndactyly\n", + " definition of HP:0010713 (1-5 toe syndactyly)\n", + " \n", + " \n", + " Syndactyly with fusion of toes one to five (complete syndactyly of all toes of the foot).\n", + " definition of HP:0010713 (1-5 toe syndactyly)\n", + " \n", + " \n", + " #Syndactyly of all toes #Webbed 1st-5th toes\n", + " definition of HP:0010713 (1-5 toe syndactyly)\n", + " \n", + " \n", + " Defect of palpebral conjunctiva\n", + " definition of HP:0430011 (Defect of palpebral conjunctiva)\n", + " \n", + " \n", + " An abnormality of the palpebral conjunctiva.\n", + " definition of HP:0430011 (Defect of palpebral conjunctiva)\n", + " \n", + " \n", + " Cervical insufficiency\n", + " definition of HP:0030009 (Cervical insufficiency)\n", + " \n", + " \n", + " A cervix that shows a painless dilation and shortening during the second trimester of pregnancy with resultant recurrent pregnancy loss or delivery is considered incompetent\n", + " definition of HP:0030009 (Cervical insufficiency)\n", + " \n", + " \n", + " #Incompetent cervix\n", + " definition of HP:0030009 (Cervical insufficiency)\n", + " \n", + " \n", + " Elevated urinary norepinephrine level\n", + " definition of HP:0003345 (Elevated urinary norepinephrine level)\n", + " \n", + " \n", + " The concentration of noradrenaline in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:0003345 (Elevated urinary norepinephrine level)\n", + " \n", + " \n", + " Abnormal urinary mineral level\n", + " definition of HP:0025640 (Abnormal urinary mineral level)\n", + " \n", + " \n", + " An abnormal concentration or amount of a mineral in the urine. Medically relevant minerals include calcium, phosphorus, potassium, sodium, chloride, magnesium, iron, zinc, iodine, chromium, copper, fluoride, molybdenum, manganese, and selenium.\n", + " definition of HP:0025640 (Abnormal urinary mineral level)\n", + " \n", + " \n", + " Purple urine\n", + " definition of HP:0040322 (Purple urine)\n", + " \n", + " \n", + " An abnormal purple color of the urine.\n", + " definition of HP:0040322 (Purple urine)\n", + " \n", + " \n", + " Abnormal conus terminalis morphology\n", + " definition of HP:0031938 (Abnormal conus terminalis morphology)\n", + " \n", + " \n", + " Any structural anomaly of the conus terminalis, which is the distal bulbous part of the spinal cord at the location where the spinal cord tapers and ends (usually between the L1 and L2 lumbar vertebrae).\n", + " definition of HP:0031938 (Abnormal conus terminalis morphology)\n", + " \n", + " \n", + " #Abnormal conus medullaris morphology\n", + " definition of HP:0031938 (Abnormal conus terminalis morphology)\n", + " \n", + " \n", + " Pulmonary tuberculosis\n", + " definition of HP:0032262 (Pulmonary tuberculosis)\n", + " \n", + " \n", + " A lung infection by Mycobacterium tuberculosis a slightly curved non-motile, aerobic, non-capsulated and non-spore forming strains of mycobacteria.\n", + " definition of HP:0032262 (Pulmonary tuberculosis)\n", + " \n", + " \n", + " #Pulmonary TB\n", + " definition of HP:0032262 (Pulmonary tuberculosis)\n", + " \n", + " \n", + " Hypoplastic nasal septum\n", + " definition of HP:0005104 (Hypoplastic nasal septum)\n", + " \n", + " \n", + " Underdevelopment of the nasal septum.\n", + " definition of HP:0005104 (Hypoplastic nasal septum)\n", + " \n", + " \n", + " #Decreased size of nasal septum #Decreased size of septum of nose #Hypoplasia of septum of nose #Small nasal septum #Small septum of nose\n", + " definition of HP:0005104 (Hypoplastic nasal septum)\n", + " \n", + " \n", + " Abnormal eyelid morphology\n", + " definition of HP:0000492 (Abnormal eyelid morphology)\n", + " \n", + " \n", + " An abnormality of the eyelids.\n", + " definition of HP:0000492 (Abnormal eyelid morphology)\n", + " \n", + " \n", + " #Abnormality of the eyelid #Abnormality of the eyelids\n", + " definition of HP:0000492 (Abnormal eyelid morphology)\n", + " \n", + " \n", + " Centrally nucleated skeletal muscle fibers\n", + " definition of HP:0003687 (Centrally nucleated skeletal muscle fibers)\n", + " \n", + " \n", + " An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells).\n", + " definition of HP:0003687 (Centrally nucleated skeletal muscle fibers)\n", + " \n", + " \n", + " #Central nuclei #Centralised nuclei #Centralised sarcomeric nuclei #Centralized nuclei #Centralized sarcomeric nuclei #Centrally nucleated skeletal muscle fibres\n", + " definition of HP:0003687 (Centrally nucleated skeletal muscle fibers)\n", + " \n", + " \n", + " Double inlet to single ventricle with two atrioventricular valves\n", + " definition of HP:0011559 (Double inlet to single ventricle with two atrioventricular valves)\n", + " \n", + " \n", + " Plasmacytoma\n", + " definition of HP:0011857 (Plasmacytoma)\n", + " \n", + " \n", + " A discrete mass of neoplastic monoclonal plasma cells either in the bone marrow or in an extramedullary location.\n", + " definition of HP:0011857 (Plasmacytoma)\n", + " \n", + " \n", + " Increased groin pigmentation with raindrop depigmentation\n", + " definition of HP:0007450 (Increased groin pigmentation with raindrop depigmentation)\n", + " \n", + " \n", + " Increased urinary 11-deoxycorticosterone level\n", + " definition of HP:0032330 (Increased urinary 11-deoxycorticosterone level)\n", + " \n", + " \n", + " An abnormally elevated concentration or amount of 11-deoxycorticosterone in the urine.\n", + " definition of HP:0032330 (Increased urinary 11-deoxycorticosterone level)\n", + " \n", + " \n", + " Abnormal circulating vitamin B6 concentration\n", + " definition of HP:0032476 (Abnormal circulating vitamin B6 concentration)\n", + " \n", + " \n", + " An abnormal concentration of vitamin B6 in the blood circulation.\n", + " definition of HP:0032476 (Abnormal circulating vitamin B6 concentration)\n", + " \n", + " \n", + " #Abnormal circulating vitamin B6 level\n", + " definition of HP:0032476 (Abnormal circulating vitamin B6 concentration)\n", + " \n", + " \n", + " Binge drinking\n", + " definition of HP:6000020 (Binge drinking)\n", + " \n", + " \n", + " A pattern of episodic heavy alcohol use characterized by the consumption of a high number of drinks per occasion.\n", + " definition of HP:6000020 (Binge drinking)\n", + " \n", + " \n", + " Testicular torsion\n", + " definition of HP:0100813 (Testicular torsion)\n", + " \n", + " \n", + " Testicular torsion is when the spermatic cord to a testicle twists, cutting off the blood supply. The most common symptom is acute testicular pain.\n", + " definition of HP:0100813 (Testicular torsion)\n", + " \n", + " \n", + " #Spermatic cord torsion\n", + " definition of HP:0100813 (Testicular torsion)\n", + " \n", + " \n", + " Bowing of the legs\n", + " definition of HP:0002979 (Bowing of the legs)\n", + " \n", + " \n", + " A bending or abnormal curvature affecting a long bone of the leg.\n", + " definition of HP:0002979 (Bowing of the legs)\n", + " \n", + " \n", + " #Bow legs #Bow-leggedness #Bowed legs #Bowed lower limbs\n", + " definition of HP:0002979 (Bowing of the legs)\n", + " \n", + " \n", + " Localized over bony prominences\n", + " definition of HP:6000301 (Localized over bony prominences)\n", + " \n", + " \n", + " Applies to an abnormality that is situated on the skin in areas where bones are close to the surface (bony prominences).\n", + " definition of HP:6000301 (Localized over bony prominences)\n", + " \n", + " \n", + " Rope sign\n", + " definition of HP:0031924 (Rope sign)\n", + " \n", + " \n", + " The presence of linear erythematous palpable cords, often on the lateral trunk.\n", + " definition of HP:0031924 (Rope sign)\n", + " \n", + " \n", + " Abnormality of tensor veli palatini muscle\n", + " definition of HP:0430016 (Abnormality of tensor veli palatini muscle)\n", + " \n", + " \n", + " An abnormality of the tensor veli palatini muscle\n", + " definition of HP:0430016 (Abnormality of tensor veli palatini muscle)\n", + " \n", + " \n", + " Renal arteriolar lumen cholesterol emboli\n", + " definition of HP:0033891 (Renal arteriolar lumen cholesterol emboli)\n", + " \n", + " \n", + " Needle-like or slit-like clefts within the interior space of arterioles of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.\n", + " definition of HP:0033891 (Renal arteriolar lumen cholesterol emboli)\n", + " \n", + " \n", + " #Cholesterol emboli within the arteriolar lumen\n", + " definition of HP:0033891 (Renal arteriolar lumen cholesterol emboli)\n", + " \n", + " \n", + " Seasonal allergy\n", + " definition of HP:0012395 (Seasonal allergy)\n", + " \n", + " \n", + " An allergy experienced at a particular time of year when trees or grasses pollinate and elicit an allergic reaction.\n", + " definition of HP:0012395 (Seasonal allergy)\n", + " \n", + " \n", + " #Seasonal allergy\n", + " definition of HP:0012395 (Seasonal allergy)\n", + " \n", + " \n", + " Optic nerve compression\n", + " definition of HP:0007807 (Optic nerve compression)\n", + " \n", + " \n", + " Decreased renal tubular phosphate excretion\n", + " definition of HP:0005572 (Decreased renal tubular phosphate excretion)\n", + " \n", + " \n", + " Lacrimal pump failure\n", + " definition of HP:0031734 (Lacrimal pump failure)\n", + " \n", + " \n", + " A form of watery eye associated with abnormal lid tone and/or lid position. The former is due to lid laxity (common involutional change in the elderly) or a weak orbicularis muscle (e.g. due to VII cranial nerve palsy). The latter is typically associated with ectropion causing punctal eversion.\n", + " definition of HP:0031734 (Lacrimal pump failure)\n", + " \n", + " \n", + " Chiari type I malformation\n", + " definition of HP:0007099 (Chiari type I malformation)\n", + " \n", + " \n", + " Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle. It is characterized by one or both pointed (not rounded) cerebellar tonsils that project 5 mm below the foramen magnum, measured by a line drawn from the basion to the opisthion (McRae Line)\n", + " definition of HP:0007099 (Chiari type I malformation)\n", + " \n", + " \n", + " #Arnold Chiari type I malformation #Arnold-Chiari type I malformation #Chiari I malformation\n", + " definition of HP:0007099 (Chiari type I malformation)\n", + " \n", + " \n", + " Subcutaneous panniculitis-like T-cell lymphoma\n", + " definition of HP:0034403 (Subcutaneous panniculitis-like T-cell lymphoma)\n", + " \n", + " \n", + " A form of T-cell non-Hodgkin lymphoma in which cytotoxic CD8+ T cells infiltrate adipose tissue forming subcutaneous nodules.\n", + " definition of HP:0034403 (Subcutaneous panniculitis-like T-cell lymphoma)\n", + " \n", + " \n", + " Elevated CSF sarcosine concentration\n", + " definition of HP:0034739 (Elevated CSF sarcosine concentration)\n", + " \n", + " \n", + " Concentration of sarcosine in the cerebrospinal fluid (CSF) above the upper limit of normal.\n", + " definition of HP:0034739 (Elevated CSF sarcosine concentration)\n", + " \n", + " \n", + " #Sarcosine high in CSF\n", + " definition of HP:0034739 (Elevated CSF sarcosine concentration)\n", + " \n", + " \n", + " Suppurative cholangitis\n", + " definition of HP:0030987 (Suppurative cholangitis)\n", + " \n", + " \n", + " Cholangitis characterized by the presence of numerous polymorphonuclear cells around and within the wall as well as within the lumen of the ducts. This may involve ducts of any size and is occasionally associated with abscess formation (cholangitic abscess).\n", + " definition of HP:0030987 (Suppurative cholangitis)\n", + " \n", + " \n", + " Progressive\n", + " definition of HP:0003676 (Progressive)\n", + " \n", + " \n", + " Applies to a disease manifestation that increases in scope or severity over the course of time, i.e., that worsens with age.\n", + " definition of HP:0003676 (Progressive)\n", + " \n", + " \n", + " #Worsens with time\n", + " definition of HP:0003676 (Progressive)\n", + " \n", + " \n", + " Absent epiphysis of the middle phalanx of the 2nd finger\n", + " definition of HP:0009513 (Absent epiphysis of the middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Absent epiphyses of middle phalanx of index finger #Missing end part of the middle long bone of the index finger\n", + " definition of HP:0009513 (Absent epiphysis of the middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " Spondylolisthesis\n", + " definition of HP:0003302 (Spondylolisthesis)\n", + " \n", + " \n", + " Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the vertebra.\n", + " definition of HP:0003302 (Spondylolisthesis)\n", + " \n", + " \n", + " #Displacement of one backbone compared to another #Slipped backbone #Spondylolithesis\n", + " definition of HP:0003302 (Spondylolisthesis)\n", + " \n", + " \n", + " Increased circulating thyroxine-binding globulin level\n", + " definition of HP:0031222 (Increased circulating thyroxine-binding globulin level)\n", + " \n", + " \n", + " An elevated concentration of thyroxine-binding globulin (TBG) in the blood.\n", + " definition of HP:0031222 (Increased circulating thyroxine-binding globulin level)\n", + " \n", + " \n", + " #Thyroxine-binding globulin high in blood\n", + " definition of HP:0031222 (Increased circulating thyroxine-binding globulin level)\n", + " \n", + " \n", + " Vertebral artery tortuosity\n", + " definition of HP:0033981 (Vertebral artery tortuosity)\n", + " \n", + " \n", + " Abnormal tortuous (i.e., twisted) form of the vertebral arteries.\n", + " definition of HP:0033981 (Vertebral artery tortuosity)\n", + " \n", + " \n", + " #Tortuous vertebral arteries\n", + " definition of HP:0033981 (Vertebral artery tortuosity)\n", + " \n", + " \n", + " Abnormality of the epiphysis of the 1st metatarsal\n", + " definition of HP:0010125 (Abnormality of the epiphysis of the 1st metatarsal)\n", + " \n", + " \n", + " In contrast to the metatarsals 2-5, the first metatarsal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5, whereas the proximal phalanx of the big toe is equivalent to the middle phalanges of the other digits. This term applies to abnormalities of the epiphysis of the first metatarsal bone.\n", + " definition of HP:0010125 (Abnormality of the epiphysis of the 1st metatarsal)\n", + " \n", + " \n", + " #Abnormality of the end part of the 1st long bone of foot\n", + " definition of HP:0010125 (Abnormality of the epiphysis of the 1st metatarsal)\n", + " \n", + " \n", + " Compensatory head tilt to the left shoulder\n", + " definition of HP:0031710 (Compensatory head tilt to the left shoulder)\n", + " \n", + " \n", + " A tendency to tilt the head towards the left shoulder to compensate for a limitation of eye movement.\n", + " definition of HP:0031710 (Compensatory head tilt to the left shoulder)\n", + " \n", + " \n", + " Abnormal glomerular basement membrane morphology\n", + " definition of HP:0033282 (Abnormal glomerular basement membrane morphology)\n", + " \n", + " \n", + " Any abnormal sttructure of the glomerular basement membrane.\n", + " definition of HP:0033282 (Abnormal glomerular basement membrane morphology)\n", + " \n", + " \n", + " Abnormal muscle fiber-type distribution\n", + " definition of HP:0033684 (Abnormal muscle fiber-type distribution)\n", + " \n", + " \n", + " Ay deviation from the normal distribution of fiber types in skeletal muscle. The skeletal muscle groups of the mammalian body are made up of bundles of muscle fibers. These fibers can be assigned to different Types, with characteristic movement rates, response to neural inputs, and metabolic styles. Skeletal muscle fibers are broadly classified as slow-twitch (type 1) and fast-twitch (type 2). Multiple fiber types are generally intermingled within a single muscle group, and different muscle groups have varying proportions of fiber types\n", + " definition of HP:0033684 (Abnormal muscle fiber-type distribution)\n", + " \n", + " \n", + " Venom-induced anaphylaxis\n", + " definition of HP:0500096 (Venom-induced anaphylaxis)\n", + " \n", + " \n", + " A form of anaphylaxis that is triggered by exposure to venom.\n", + " definition of HP:0500096 (Venom-induced anaphylaxis)\n", + " \n", + " \n", + " Blood group B\n", + " definition of HP:0032440 (Blood group B)\n", + " \n", + " \n", + " ABO phenotype B, corresponding to the genotype BO or BB.\n", + " definition of HP:0032440 (Blood group B)\n", + " \n", + " \n", + " Prolonged P wave\n", + " definition of HP:0034308 (Prolonged P wave)\n", + " \n", + " \n", + " Abnormal increased in the duration of the P wave, which is a marker of delayed inter-atrial conduction.\n", + " definition of HP:0034308 (Prolonged P wave)\n", + " \n", + " \n", + " Renal phosphate wasting\n", + " definition of HP:0000117 (Renal phosphate wasting)\n", + " \n", + " \n", + " High urine phosphate in the presence of hypophosphatemia.\n", + " definition of HP:0000117 (Renal phosphate wasting)\n", + " \n", + " \n", + " #Decreased renal tubular phosphate reabsorption #Decreased tubular maximum for phosphate reabsorption per glomerular filtration rate #Tubular phosphate reabsorption low\n", + " definition of HP:0000117 (Renal phosphate wasting)\n", + " \n", + " \n", + " Increased proportion of CD4+CD25+ regulatory T cells\n", + " definition of HP:0020112 (Increased proportion of CD4+CD25+ regulatory T cells)\n", + " \n", + " \n", + " An abnormally increased proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells.\n", + " definition of HP:0020112 (Increased proportion of CD4+CD25+ regulatory T cells)\n", + " \n", + " \n", + " #Elevated proportion of CD4+CD25+ regulatory T cells #Increased proportion of CD4+CD25+ Treg cells\n", + " definition of HP:0020112 (Increased proportion of CD4+CD25+ regulatory T cells)\n", + " \n", + " \n", + " Decreased acid ceramidase activity\n", + " definition of HP:0034053 (Decreased acid ceramidase activity)\n", + " \n", + " \n", + " Flattened humeral epiphyses\n", + " definition of HP:0003895 (Flattened humeral epiphyses)\n", + " \n", + " \n", + " #Flattened end part of long bone in upper arm\n", + " definition of HP:0003895 (Flattened humeral epiphyses)\n", + " \n", + " \n", + " Abnormal earlobe morphology\n", + " definition of HP:0000363 (Abnormal earlobe morphology)\n", + " \n", + " \n", + " An abnormality of the lobule of pinna.\n", + " definition of HP:0000363 (Abnormal earlobe morphology)\n", + " \n", + " \n", + " #Abnormal earlobe #Abnormal lobe of ear #Abnormality of auricular lobule #Abnormality of ear lobe #Abnormality of earlobe #Abnormality of lobulus auriculae\n", + " definition of HP:0000363 (Abnormal earlobe morphology)\n", + " \n", + " \n", + " AA amyloidosis\n", + " definition of HP:4000041 (AA amyloidosis)\n", + " \n", + " \n", + " Extracellular tissue deposition of fibrils that are composed of fragments of and/or intact serum amyloid A protein, a hepatic acute phase reactant.\n", + " definition of HP:4000041 (AA amyloidosis)\n", + " \n", + " \n", + " Thickening of the lateral border of the scapula\n", + " definition of HP:0006650 (Thickening of the lateral border of the scapula)\n", + " \n", + " \n", + " #Thickening of the lateral border of the shoulder blade\n", + " definition of HP:0006650 (Thickening of the lateral border of the scapula)\n", + " \n", + " \n", + " Infrequent social engagement with peers\n", + " definition of HP:5200110 (Infrequent social engagement with peers)\n", + " \n", + " \n", + " Social engagement refers to the interaction of an individual with others in a contextually appropriate manner. This term refers to a lower than typical number of attempts to engage peers in conversation, play, or other interactions.\n", + " definition of HP:5200110 (Infrequent social engagement with peers)\n", + " \n", + " \n", + " #Aloneness #Infrequent attempting to engage peers #Marked preference for solitude #Poor social engagement #Prefers being alone\n", + " definition of HP:5200110 (Infrequent social engagement with peers)\n", + " \n", + " \n", + " Alobar holoprosencephaly\n", + " definition of HP:0006988 (Alobar holoprosencephaly)\n", + " \n", + " \n", + " A type of holoprosencephaly characterized by the presence of a single ventricle and no separation of the cerebral hemisphere. The single midline ventricle is often greatly enlarged.\n", + " definition of HP:0006988 (Alobar holoprosencephaly)\n", + " \n", + " \n", + " Slender long bones with narrow diaphyses\n", + " definition of HP:0004993 (Slender long bones with narrow diaphyses)\n", + " \n", + " \n", + " Reduced diameter of a long bone with a more pronounced reduction of the diameter of the diaphysis of the long bones.\n", + " definition of HP:0004993 (Slender long bones with narrow diaphyses)\n", + " \n", + " \n", + " #Slender long bones with narrow shaft\n", + " definition of HP:0004993 (Slender long bones with narrow diaphyses)\n", + " \n", + " \n", + " Bronchomegaly\n", + " definition of HP:0010777 (Bronchomegaly)\n", + " \n", + " \n", + " Marked widening of the major bronchi that may be predispose to chronic respiratory tract infection.\n", + " definition of HP:0010777 (Bronchomegaly)\n", + " \n", + " \n", + " Naso-orbital encephalocele\n", + " definition of HP:0007115 (Naso-orbital encephalocele)\n", + " \n", + " \n", + " A type of encephalocele that occurs along the medial orbit wall at the level of the frontal process of the maxilla and the ethmoid-lacrimal bone junction.\n", + " definition of HP:0007115 (Naso-orbital encephalocele)\n", + " \n", + " \n", + " #Orbital encephalocele\n", + " definition of HP:0007115 (Naso-orbital encephalocele)\n", + " \n", + " \n", + " Hemolytic-uremic syndrome\n", + " definition of HP:0005575 (Hemolytic-uremic syndrome)\n", + " \n", + " \n", + " A thrombotic microangiopathy with presence of non-immune, intravascular hemolytic anemia, thrombocytopenia and acute kidney injury. A vicious cycle of complement activation, endothelial cell damage, platelet activation, and thrombosis is the hallmark of the disease.\n", + " definition of HP:0005575 (Hemolytic-uremic syndrome)\n", + " \n", + " \n", + " #Hemolytic uremic syndrome\n", + " definition of HP:0005575 (Hemolytic-uremic syndrome)\n", + " \n", + " \n", + " Irregular distal femoral epiphysis\n", + " definition of HP:0006407 (Irregular distal femoral epiphysis)\n", + " \n", + " \n", + " Anomaly of the contour of the Distal epiphysis of femur such that its normally smooth appearance is irregular.\n", + " definition of HP:0006407 (Irregular distal femoral epiphysis)\n", + " \n", + " \n", + " #Irregular outermost thighbone end part\n", + " definition of HP:0006407 (Irregular distal femoral epiphysis)\n", + " \n", + " \n", + " Severe intrauterine growth retardation\n", + " definition of HP:0008846 (Severe intrauterine growth retardation)\n", + " \n", + " \n", + " Intrauterine growth retardation that is 4 or more standard deviations below average, corrected for sex and gestational age.\n", + " definition of HP:0008846 (Severe intrauterine growth retardation)\n", + " \n", + " \n", + " #Intrauterine growth retardation, severe #Severe prenatal growth deficiency\n", + " definition of HP:0008846 (Severe intrauterine growth retardation)\n", + " \n", + " \n", + " Recurrent corneal erosions\n", + " definition of HP:0000495 (Recurrent corneal erosions)\n", + " \n", + " \n", + " The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations.\n", + " definition of HP:0000495 (Recurrent corneal erosions)\n", + " \n", + " \n", + " #Corneal erosions, recurrent #Recurrent breakdown of clear protective layer of eye #Recurrent corneal ulceration\n", + " definition of HP:0000495 (Recurrent corneal erosions)\n", + " \n", + " \n", + " Lower-limb joint contracture\n", + " definition of HP:0005750 (Lower-limb joint contracture)\n", + " \n", + " \n", + " A limitation in the passive range of motion of a joint of the lower limb resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin.\n", + " definition of HP:0005750 (Lower-limb joint contracture)\n", + " \n", + " \n", + " #Contractures of the joints of the lower limbs #Contractures, lower limbs\n", + " definition of HP:0005750 (Lower-limb joint contracture)\n", + " \n", + " \n", + " Abnormal blood monovalent inorganic cation concentration\n", + " definition of HP:0010930 (Abnormal blood monovalent inorganic cation concentration)\n", + " \n", + " \n", + " An abnormality of monovalent inorganic cation homeostasis.\n", + " definition of HP:0010930 (Abnormal blood monovalent inorganic cation concentration)\n", + " \n", + " \n", + " #Abnormality of monovalent inorganic cation homeostasis\n", + " definition of HP:0010930 (Abnormal blood monovalent inorganic cation concentration)\n", + " \n", + " \n", + " Unaided visual acuity 0.6 LogMAR\n", + " definition of HP:0030541 (Unaided visual acuity 0.6 LogMAR)\n", + " \n", + " \n", + " Fragmentation of the epiphysis of the distal phalanx of the 3rd finger\n", + " definition of HP:0009339 (Fragmentation of the epiphysis of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Fragmented appearance of the epiphysis of the distal phalanx of the 3rd finger.\n", + " definition of HP:0009339 (Fragmentation of the epiphysis of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Fragmentation of end part of the outermost bone of the middle finger\n", + " definition of HP:0009339 (Fragmentation of the epiphysis of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Complete cleft of the upper lip\n", + " definition of HP:5201009 (Complete cleft of the upper lip)\n", + " \n", + " \n", + " Cleft of the upper lip that starts from the bottom of the upper lip and reaches the nasal cavity.\n", + " definition of HP:5201009 (Complete cleft of the upper lip)\n", + " \n", + " \n", + " Retinal nerve fiber edema\n", + " definition of HP:0020120 (Retinal nerve fiber edema)\n", + " \n", + " \n", + " Swelling (edema) of the retinal nerve fibers.\n", + " definition of HP:0020120 (Retinal nerve fiber edema)\n", + " \n", + " \n", + " #Retinal nerve fibre oedema\n", + " definition of HP:0020120 (Retinal nerve fiber edema)\n", + " \n", + " \n", + " Abnormal platysma muscle morphology\n", + " definition of HP:3000013 (Abnormal platysma muscle morphology)\n", + " \n", + " \n", + " An abnormality of the platysma muscle.\n", + " definition of HP:3000013 (Abnormal platysma muscle morphology)\n", + " \n", + " \n", + " #Abnormality of platysma #Abnormality of the platysma muscle\n", + " definition of HP:3000013 (Abnormal platysma muscle morphology)\n", + " \n", + " \n", + " Prominent prostate median bar\n", + " definition of HP:0008742 (Prominent prostate median bar)\n", + " \n", + " \n", + " Severe T-cell immunodeficiency\n", + " definition of HP:0005352 (Severe T-cell immunodeficiency)\n", + " \n", + " \n", + " A primary immune deficiency that is characterized by defects or deficiencies of T-lymphocytes that causes specific susceptibility to intracellular micro-organisms.\n", + " definition of HP:0005352 (Severe T-cell immunodeficiency)\n", + " \n", + " \n", + " #Severe T-cell immunodeficiency\n", + " definition of HP:0005352 (Severe T-cell immunodeficiency)\n", + " \n", + " \n", + " Positive tuberculin skin test\n", + " definition of HP:6000925 (Positive tuberculin skin test)\n", + " \n", + " \n", + " A positive result of the tuberculin skin test suggesting previous expouse or infection with mycobacterium teberculosis. A standard dose of five tuberculin units (TU) (0.1ml) is injected intradermally (into the skin) and read 48 to 72 h later. A person who has been exposed to the bacteria is expected to mount an immune response in the skin containing the bacterial proteins. The volar aspect of the forearm is the preferred site of test. The basis of reading is the presence or absence of induration, which may be determined by inspection (from a side view against the light as well as by direct light) and by palpation. For standardization, the diameter of induration should be measured transversely to the long axis of the forearm and recorded in millimeters.\n", + " definition of HP:6000925 (Positive tuberculin skin test)\n", + " \n", + " \n", + " #Positive Mantoux tuberculosis test #Tuberculosis skin test positive\n", + " definition of HP:6000925 (Positive tuberculin skin test)\n", + " \n", + " \n", + " Narrow palate\n", + " definition of HP:0000189 (Narrow palate)\n", + " \n", + " \n", + " Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective).\n", + " definition of HP:0000189 (Narrow palate)\n", + " \n", + " \n", + " #Decreased palatal width #Decreased transverse dimension of palate #Narrow palate #Narrow roof of mouth\n", + " definition of HP:0000189 (Narrow palate)\n", + " \n", + " \n", + " Ameliorated by acetylcholinesterase inhibitor\n", + " definition of HP:0032526 (Ameliorated by acetylcholinesterase inhibitor)\n", + " \n", + " \n", + " Applies to a sign or symptom that is improved or made more bearable by an acetylcholinesterase inhibitor such as mestinon or tensilon.\n", + " definition of HP:0032526 (Ameliorated by acetylcholinesterase inhibitor)\n", + " \n", + " \n", + " Abnormal tissue alpha-N-acetylglucosaminidase activity\n", + " definition of HP:6000972 (Abnormal tissue alpha-N-acetylglucosaminidase activity)\n", + " \n", + " \n", + " Concentration or activity of alpha-N-acetylglucosaminidase (EC 3.2.1.50) outside of the limits of normal. This enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts. It is also known as alpha-acetylglucosaminidase, N-acetyl-alpha-D-glucosaminidase, N-acetyl-alpha-glucosaminidase, and alpha-D-2-acetamido-2-deoxyglucosidase.\n", + " definition of HP:6000972 (Abnormal tissue alpha-N-acetylglucosaminidase activity)\n", + " \n", + " \n", + " Decreased lymphocyte proliferation in response to anti-CD3\n", + " definition of HP:0031382 (Decreased lymphocyte proliferation in response to anti-CD3)\n", + " \n", + " \n", + " A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with an anti-CD3 antibody against the T-cell co-receptor, CD3.\n", + " definition of HP:0031382 (Decreased lymphocyte proliferation in response to anti-CD3)\n", + " \n", + " \n", + " #Defective lymphocyte proliferation to anti-CD3 #Defective proliferation of lymphocytes following anti-CD3 stimulation\n", + " definition of HP:0031382 (Decreased lymphocyte proliferation in response to anti-CD3)\n", + " \n", + " \n", + " Visceral epithelial hyaline droplets\n", + " definition of HP:0033315 (Visceral epithelial hyaline droplets)\n", + " \n", + " \n", + " Round to ovoid, Periodic acid-Schiff (PAS)-positive, fuchsinophilic cytoplasmic inclusions within visceral epithelial cells.\n", + " definition of HP:0033315 (Visceral epithelial hyaline droplets)\n", + " \n", + " \n", + " Reduced erythrocyte uroporphyrinogen III cosynthase activity\n", + " definition of HP:6000514 (Reduced erythrocyte uroporphyrinogen III cosynthase activity)\n", + " \n", + " \n", + " Activity or concentration of in the level of uroporphyrinogen III (EC 4.2.1.75) in erythrocytes below the lower limit of normal.\n", + " definition of HP:6000514 (Reduced erythrocyte uroporphyrinogen III cosynthase activity)\n", + " \n", + " \n", + " Abnormal T cell morphology\n", + " definition of HP:0002843 (Abnormal T cell morphology)\n", + " \n", + " \n", + " An abnormality of T cells.\n", + " definition of HP:0002843 (Abnormal T cell morphology)\n", + " \n", + " \n", + " #Abnormal T cells #Abnormality of T cells #Cellular immune defect #Defective cellular immunity\n", + " definition of HP:0002843 (Abnormal T cell morphology)\n", + " \n", + " \n", + " Recurrent meningococcal disease\n", + " definition of HP:0005381 (Recurrent meningococcal disease)\n", + " \n", + " \n", + " Recurrent infections by Neisseria meningitidis (one of the most common causes of bacterial meningitis), which is also known as meningococcus.\n", + " definition of HP:0005381 (Recurrent meningococcal disease)\n", + " \n", + " \n", + " #Increased susceptibility to neisseria meningitidis infections\n", + " definition of HP:0005381 (Recurrent meningococcal disease)\n", + " \n", + " \n", + " Anti-GD1a IgG antibody positivity\n", + " definition of HP:0034119 (Anti-GD1a IgG antibody positivity)\n", + " \n", + " \n", + " The presence of IgG autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside D1a.\n", + " definition of HP:0034119 (Anti-GD1a IgG antibody positivity)\n", + " \n", + " \n", + " Sensory axonal neuropathy\n", + " definition of HP:0003390 (Sensory axonal neuropathy)\n", + " \n", + " \n", + " An axonal neuropathy of peripheral sensory nerves.\n", + " definition of HP:0003390 (Sensory axonal neuropathy)\n", + " \n", + " \n", + " #Axonal sensory neuropathy\n", + " definition of HP:0003390 (Sensory axonal neuropathy)\n", + " \n", + " \n", + " Glomerular capillary wall duplication with cellular interposition\n", + " definition of HP:0033323 (Glomerular capillary wall duplication with cellular interposition)\n", + " \n", + " \n", + " Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix with interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM.\n", + " definition of HP:0033323 (Glomerular capillary wall duplication with cellular interposition)\n", + " \n", + " \n", + " Cervical myelopathy\n", + " definition of HP:0002318 (Cervical myelopathy)\n", + " \n", + " \n", + " Knee joint effusion\n", + " definition of HP:6001020 (Knee joint effusion)\n", + " \n", + " \n", + " Abnormal accumulation of fluid within the knee joint or around the knee. Symptoms maye include, pain, swelling, and stiffness.\n", + " definition of HP:6001020 (Knee joint effusion)\n", + " \n", + " \n", + " Intraalveolar nodular calcifications\n", + " definition of HP:0006514 (Intraalveolar nodular calcifications)\n", + " \n", + " \n", + " Intratubular bilirubin casts\n", + " definition of HP:0032624 (Intratubular bilirubin casts)\n", + " \n", + " \n", + " A type of acelluar intratubular casts that have a surface composed of granules, which can vary in size. On H&E (red brown), PAS (amaranth purple), trichrome (red with ragged contours), Hall (olive-emerald green).\n", + " definition of HP:0032624 (Intratubular bilirubin casts)\n", + " \n", + " \n", + " Focal emotional seizure\n", + " definition of HP:0025613 (Focal emotional seizure)\n", + " \n", + " \n", + " Seizures presenting with an emotion or the appearance of having an emotion as an early prominent feature, such as fear, spontaneous joy or euphoria, laughing (gelastic), or crying, (dacrystic). These emotional seizures may occur with or without objective clinical signs of a seizure evident to the observer.\n", + " definition of HP:0025613 (Focal emotional seizure)\n", + " \n", + " \n", + " #Affective seizure #Emotional seizure #Focal affective seizure #Partial emotional seizure\n", + " definition of HP:0025613 (Focal emotional seizure)\n", + " \n", + " \n", + " Joint flexor surface localization\n", + " definition of HP:0032540 (Joint flexor surface localization)\n", + " \n", + " \n", + " Applies to an abnormality that is situated in flexor surface of the joint. The flexor surface refers to the skin that touches when a joint is bent (flexed).\n", + " definition of HP:0032540 (Joint flexor surface localization)\n", + " \n", + " \n", + " Recurrent bronchitis\n", + " definition of HP:0002837 (Recurrent bronchitis)\n", + " \n", + " \n", + " An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis.\n", + " definition of HP:0002837 (Recurrent bronchitis)\n", + " \n", + " \n", + " #Bronchitis, recurrent\n", + " definition of HP:0002837 (Recurrent bronchitis)\n", + " \n", + " \n", + " Abnormality of dental eruption\n", + " definition of HP:0006292 (Abnormality of dental eruption)\n", + " \n", + " \n", + " An abnormality of tooth eruption.\n", + " definition of HP:0006292 (Abnormality of dental eruption)\n", + " \n", + " \n", + " #Abnormal dental eruption #Abnormality of tooth eruption\n", + " definition of HP:0006292 (Abnormality of dental eruption)\n", + " \n", + " \n", + " Fractured distal epiphysis of distal phalanx of manual digit 1\n", + " definition of HP:0041216 (Fractured distal epiphysis of distal phalanx of manual digit 1)\n", + " \n", + " \n", + " A partial or complete breakage of the distal epiphysis of distal phalanx of manual digit 1.\n", + " definition of HP:0041216 (Fractured distal epiphysis of distal phalanx of manual digit 1)\n", + " \n", + " \n", + " #bone distal epiphysis of distal phalanx of manual digit 1\n", + " definition of HP:0041216 (Fractured distal epiphysis of distal phalanx of manual digit 1)\n", + " \n", + " \n", + " Segmental glomerulosclerosis away from the vascular and tubular poles\n", + " definition of HP:0033498 (Segmental glomerulosclerosis away from the vascular and tubular poles)\n", + " \n", + " \n", + " Segmental solidification of the glomerular tuft characterized by increased extracellular matrix, causing glomerular capillary obliteration at neither the tubular or vascular poles. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed.\n", + " definition of HP:0033498 (Segmental glomerulosclerosis away from the vascular and tubular poles)\n", + " \n", + " \n", + " Mechanic's hands\n", + " definition of HP:6001013 (Mechanic's hands)\n", + " \n", + " \n", + " Mechanic's hands are fissured, erythematous, hyperkeratotic eruptions on the hands, resembling the type of occupational dermatosis said to resemble the hands of a manual laborer. The lesions are classically on the lateral edges of the fingers and thumbs, largely sparing the palmar, and dorsal aspects of the digits.\n", + " definition of HP:6001013 (Mechanic's hands)\n", + " \n", + " \n", + " Neuropathic spinal arthropathy\n", + " definition of HP:0008443 (Neuropathic spinal arthropathy)\n", + " \n", + " \n", + " A progressive disorder of vertebral joint degeneration that occurs in the setting of any condition characterized by decreased afferent innervation, involving loss of deep pain and proprioceptive sensation in the vertebral column. Patients most commonly present with symptoms of lower back pain, sitting imbalance, progressive spinal deformity (usually kyphosis), and an audible clicking sound on changing postures.\n", + " definition of HP:0008443 (Neuropathic spinal arthropathy)\n", + " \n", + " \n", + " #Charcot spinal arthropathy #Spinal deformities #Spinal neuroarthropathy\n", + " definition of HP:0008443 (Neuropathic spinal arthropathy)\n", + " \n", + " \n", + " Elevated circulating thrombopoietin concentration\n", + " definition of HP:0034600 (Elevated circulating thrombopoietin concentration)\n", + " \n", + " \n", + " Concentration of thrombopoietin in the blood circulation above the upper limit of normal. Thrombopoietin is a glycoprotein hormone produced by the liver and kidney that stimulates the production and differentiation of megakaryocytes.\n", + " definition of HP:0034600 (Elevated circulating thrombopoietin concentration)\n", + " \n", + " \n", + " #Thrombopoietin high in blood\n", + " definition of HP:0034600 (Elevated circulating thrombopoietin concentration)\n", + " \n", + " \n", + " Gingival hyperkeratosis\n", + " definition of HP:0000222 (Gingival hyperkeratosis)\n", + " \n", + " \n", + " Hyperkeratosis of the gingiva.\n", + " definition of HP:0000222 (Gingival hyperkeratosis)\n", + " \n", + " \n", + " #Hyperkeratosis, gingival\n", + " definition of HP:0000222 (Gingival hyperkeratosis)\n", + " \n", + " \n", + " Irregular ossification of the humeral epiphyses\n", + " definition of HP:0003897 (Irregular ossification of the humeral epiphyses)\n", + " \n", + " \n", + " Abnormality of the epiphysis of the distal phalanx of the 5th toe\n", + " definition of HP:0100097 (Abnormality of the epiphysis of the distal phalanx of the 5th toe)\n", + " \n", + " \n", + " #Abnormality of the end part of the outermost bone of the little toe #Abnormality of the end part of the outermost bone of the pinkie toe #Abnormality of the end part of the outermost bone of the pinky toe\n", + " definition of HP:0100097 (Abnormality of the epiphysis of the distal phalanx of the 5th toe)\n", + " \n", + " \n", + " Pineal gland calcification\n", + " definition of HP:0012682 (Pineal gland calcification)\n", + " \n", + " \n", + " Accumulation of calcium salts in the pineal gland.\n", + " definition of HP:0012682 (Pineal gland calcification)\n", + " \n", + " \n", + " Grouped congenital hypertrophy of retinal pigment epithelium\n", + " definition of HP:0030504 (Grouped congenital hypertrophy of retinal pigment epithelium)\n", + " \n", + " \n", + " #Bear track congenital hypertrophy of retinal pigment epithelium\n", + " definition of HP:0030504 (Grouped congenital hypertrophy of retinal pigment epithelium)\n", + " \n", + " \n", + " Positive CSF fungus test\n", + " definition of HP:6000729 (Positive CSF fungus test)\n", + " \n", + " \n", + " Any kind of test for a fungal infectious agent in the cerebrospinal fluid (CSF) positive.\n", + " definition of HP:6000729 (Positive CSF fungus test)\n", + " \n", + " \n", + " Abnormal glomerular basement membrane texture\n", + " definition of HP:0033486 (Abnormal glomerular basement membrane texture)\n", + " \n", + " \n", + " Anomalous appearance or structure of the surface of the glomerular basement membrane.\n", + " definition of HP:0033486 (Abnormal glomerular basement membrane texture)\n", + " \n", + " \n", + " Hamstring contractures\n", + " definition of HP:0003089 (Hamstring contractures)\n", + " \n", + " \n", + " #Hamstring contractures\n", + " definition of HP:0003089 (Hamstring contractures)\n", + " \n", + " \n", + " Genital warts\n", + " definition of HP:0032301 (Genital warts)\n", + " \n", + " \n", + " Warts affecting the skin in the genital area (penile shaft, scrotum, vagina, or labia majora). Warts can be small, beginning as a pinhead-size swelling that may become larger and take on a pedunculated appearance. Warts can spread and coalesce into large masses in the genital or anal area. Their color is variable but tends to be skin colored or darker, and they may occasionally bleed. Warts may cause itching, redness, or discomfort. An outbreak of genital warts may also cause psychological distress.\n", + " definition of HP:0032301 (Genital warts)\n", + " \n", + " \n", + " Keratan sulfate excretion in urine\n", + " definition of HP:0012069 (Keratan sulfate excretion in urine)\n", + " \n", + " \n", + " An increased concentration of keratan sulfate in the urine.\n", + " definition of HP:0012069 (Keratan sulfate excretion in urine)\n", + " \n", + " \n", + " #Keratan sulphate excretion in urine\n", + " definition of HP:0012069 (Keratan sulfate excretion in urine)\n", + " \n", + " \n", + " Hypertryptophanemia\n", + " definition of HP:0500134 (Hypertryptophanemia)\n", + " \n", + " \n", + " An increased amount of tryptophan in the blood.\n", + " definition of HP:0500134 (Hypertryptophanemia)\n", + " \n", + " \n", + " #High blood tryptophan concentration #Increased tryptophan in blood\n", + " definition of HP:0500134 (Hypertryptophanemia)\n", + " \n", + " \n", + " Type II diabetes mellitus\n", + " definition of HP:0005978 (Type II diabetes mellitus)\n", + " \n", + " \n", + " A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia.\n", + " definition of HP:0005978 (Type II diabetes mellitus)\n", + " \n", + " \n", + " #Diabetes mellitus Type II #Diabetes mellitus, noninsulin-dependent #NIDDM #NIDDM diabetes mellitus #Non-insulin dependent diabetes #Noninsulin dependent diabetes mellitus #Noninsulin-dependent diabetes #Type 2 diabetes #Type II diabetes\n", + " definition of HP:0005978 (Type II diabetes mellitus)\n", + " \n", + " \n", + " Reduced circulating CH50 activity\n", + " definition of HP:0025434 (Reduced circulating CH50 activity)\n", + " \n", + " \n", + " A diminished activity of the classical complement pathway as measured by the assay for 50% haemolytic complement (CH50) activity of serum.\n", + " definition of HP:0025434 (Reduced circulating CH50 activity)\n", + " \n", + " \n", + " #Decreased total hemolytic complement activity #Reduced CH50 #Reduced circulating 50% hemolytic complement (CH50) activity #Reduced hemolytic complement activity\n", + " definition of HP:0025434 (Reduced circulating CH50 activity)\n", + " \n", + " \n", + " Narrow penis\n", + " definition of HP:0030262 (Narrow penis)\n", + " \n", + " \n", + " Penile width more than 2 standard deviations (SD) below the mean for age. Alternatively circumference of the flaccid penis more than 2 SD below the mean for age. Alternatively, apparently decreased penile width for age.\n", + " definition of HP:0030262 (Narrow penis)\n", + " \n", + " \n", + " #Narrow penis\n", + " definition of HP:0030262 (Narrow penis)\n", + " \n", + " \n", + " Multilamellation of medullary peritubular capillary basement membranes\n", + " definition of HP:0033867 (Multilamellation of medullary peritubular capillary basement membranes)\n", + " \n", + " \n", + " Duplicated basement membranes of the peritubular capillaries located in the medulla of the kidney and arranged in multiple concentric layers.\n", + " definition of HP:0033867 (Multilamellation of medullary peritubular capillary basement membranes)\n", + " \n", + " \n", + " #Multilamellation of basement membranes within medullary peritubular capillaries\n", + " definition of HP:0033867 (Multilamellation of medullary peritubular capillary basement membranes)\n", + " \n", + " \n", + " Metacarpophalangeal joint hyperextensibility\n", + " definition of HP:0006099 (Metacarpophalangeal joint hyperextensibility)\n", + " \n", + " \n", + " Increased mobility of one ore more metacarpophalangeal joint.\n", + " definition of HP:0006099 (Metacarpophalangeal joint hyperextensibility)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the frontal sinuses\n", + " definition of HP:0009119 (Aplasia/Hypoplasia of the frontal sinuses)\n", + " \n", + " \n", + " Absence or underdevelopment of frontal sinus.\n", + " definition of HP:0009119 (Aplasia/Hypoplasia of the frontal sinuses)\n", + " \n", + " \n", + " #Abnormally small frontal sinus\n", + " definition of HP:0009119 (Aplasia/Hypoplasia of the frontal sinuses)\n", + " \n", + " \n", + " Hypoplastic colon\n", + " definition of HP:0005210 (Hypoplastic colon)\n", + " \n", + " \n", + " Underdevelopment of the colon.\n", + " definition of HP:0005210 (Hypoplastic colon)\n", + " \n", + " \n", + " #Hypoplasia of the colon #Underdeveloped colon\n", + " definition of HP:0005210 (Hypoplastic colon)\n", + " \n", + " \n", + " Heterotropia\n", + " definition of HP:0032012 (Heterotropia)\n", + " \n", + " \n", + " Manifest deviation of the visual axes not controlled by fusion.\n", + " definition of HP:0032012 (Heterotropia)\n", + " \n", + " \n", + " Exaggerated median tongue furrow\n", + " definition of HP:0002711 (Exaggerated median tongue furrow)\n", + " \n", + " \n", + " Increased depth of the median tongue furrow.\n", + " definition of HP:0002711 (Exaggerated median tongue furrow)\n", + " \n", + " \n", + " #Deep central lingual furrow #Deep central lingual groove #Deep central tongue furrow #Deep central tongue groove #Deep median lingual furrow #Deep median lingual groove #Deep median tongue furrow #Deep median tongue groove #Exaggerated median lingual furrow\n", + " definition of HP:0002711 (Exaggerated median tongue furrow)\n", + " \n", + " \n", + " Atrophic gastritis\n", + " definition of HP:0002582 (Atrophic gastritis)\n", + " \n", + " \n", + " Atrophic gastritis (AG) is a histopathological entity that is characterized by chronic inflammation of the gastric mucosa with loss of gastric glandular cells and replacement by intestinal-type epithelium, pyloric-type glands, and fibrous tissue.\n", + " definition of HP:0002582 (Atrophic gastritis)\n", + " \n", + " \n", + " #Chronic atrophic gastritis\n", + " definition of HP:0002582 (Atrophic gastritis)\n", + " \n", + " \n", + " Abnormal inner ear morphology\n", + " definition of HP:0011390 (Abnormal inner ear morphology)\n", + " \n", + " \n", + " A structural anomaly of the internal part of the ear.\n", + " definition of HP:0011390 (Abnormal inner ear morphology)\n", + " \n", + " \n", + " #Morphological abnormality of the inner ear\n", + " definition of HP:0011390 (Abnormal inner ear morphology)\n", + " \n", + " \n", + " Delayed brainstem auditory evoked response conduction time\n", + " definition of HP:0004466 (Delayed brainstem auditory evoked response conduction time)\n", + " \n", + " \n", + " An abnormal increase (delay) in the conduction time of the brainstem auditory-evoked response.\n", + " definition of HP:0004466 (Delayed brainstem auditory evoked response conduction time)\n", + " \n", + " \n", + " Horizontal sacrum\n", + " definition of HP:0003440 (Horizontal sacrum)\n", + " \n", + " \n", + " Abnormal patella morphology\n", + " definition of HP:0003045 (Abnormal patella morphology)\n", + " \n", + " \n", + " Abnormality of the patella (knee cap).\n", + " definition of HP:0003045 (Abnormal patella morphology)\n", + " \n", + " \n", + " #Abnormal kneecap #Abnormality of the patella #Patellar abnormality\n", + " definition of HP:0003045 (Abnormal patella morphology)\n", + " \n", + " \n", + " Neurodegeneration\n", + " definition of HP:0002180 (Neurodegeneration)\n", + " \n", + " \n", + " Progressive loss of neural cells and tissue.\n", + " definition of HP:0002180 (Neurodegeneration)\n", + " \n", + " \n", + " #Ongoing loss of nerve cells\n", + " definition of HP:0002180 (Neurodegeneration)\n", + " \n", + " \n", + " Cigarette-paper scars\n", + " definition of HP:0001073 (Cigarette-paper scars)\n", + " \n", + " \n", + " Thin (atrophic) and wide scars.\n", + " definition of HP:0001073 (Cigarette-paper scars)\n", + " \n", + " \n", + " #Cigarette paper scarring #Cigarette-paper scars\n", + " definition of HP:0001073 (Cigarette-paper scars)\n", + " \n", + " \n", + " Jejunal arteriovenous malformation\n", + " definition of HP:0031343 (Jejunal arteriovenous malformation)\n", + " \n", + " \n", + " An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the jejunum.\n", + " definition of HP:0031343 (Jejunal arteriovenous malformation)\n", + " \n", + " \n", + " Glomeruloid hemangioma\n", + " definition of HP:0031357 (Glomeruloid hemangioma)\n", + " \n", + " \n", + " A histologically distinctive, cutaneous, benign vascular tumor that is characterized by a solitary or multiple blue-red papules and histologically resembles renal glomeruli.\n", + " definition of HP:0031357 (Glomeruloid hemangioma)\n", + " \n", + " \n", + " Abnormality of the midnasal cavity\n", + " definition of HP:0010641 (Abnormality of the midnasal cavity)\n", + " \n", + " \n", + " Abnormality of the midnasal cavity which includes the cavity between the nares and the choanae.\n", + " definition of HP:0010641 (Abnormality of the midnasal cavity)\n", + " \n", + " \n", + " Focal aware autonomic seizure with hypoventilation/hyperventilation/altered respiration\n", + " definition of HP:0032769 (Focal aware autonomic seizure with hypoventilation/hyperventilation/altered respiration)\n", + " \n", + " \n", + " An autonomic seizure with hypoventilation / hyperventilation / altered respiration characterized by retained awareness throughout the seizure.\n", + " definition of HP:0032769 (Focal aware autonomic seizure with hypoventilation/hyperventilation/altered respiration)\n", + " \n", + " \n", + " Reduced in vitro contracture test threshold\n", + " definition of HP:6000149 (Reduced in vitro contracture test threshold)\n", + " \n", + " \n", + " The in vitro contracture test determines the sensitivity of freshly obtained skeletal muscle specimens to caffeine or halothane applied to a bathing solution. Muscles from persons susceptible to malignant hyperthermia have lower contracture thresholds for these agents than do normal muscle.\n", + " definition of HP:6000149 (Reduced in vitro contracture test threshold)\n", + " \n", + " \n", + " #Caffeine in vitro contracture test positive #Halothane in vitro contracture test positive\n", + " definition of HP:6000149 (Reduced in vitro contracture test threshold)\n", + " \n", + " \n", + " Cardiomyocyte inclusion bodies\n", + " definition of HP:0031334 (Cardiomyocyte inclusion bodies)\n", + " \n", + " \n", + " Nuclear or cytoplasmic aggregates of stainable substances within cardiomyocytes.\n", + " definition of HP:0031334 (Cardiomyocyte inclusion bodies)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the fovea\n", + " definition of HP:0008060 (Aplasia/Hypoplasia of the fovea)\n", + " \n", + " \n", + " Congenital absence or underdevelopment of the fovea centralis.\n", + " definition of HP:0008060 (Aplasia/Hypoplasia of the fovea)\n", + " \n", + " \n", + " #Absent/underdeveloped fovea\n", + " definition of HP:0008060 (Aplasia/Hypoplasia of the fovea)\n", + " \n", + " \n", + " Reduced level of N-acetylglucosaminyltransferase II\n", + " definition of HP:0003655 (Reduced level of N-acetylglucosaminyltransferase II)\n", + " \n", + " \n", + " An abnormality of glycoprotein metabolism related to a decreased level of alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity.\n", + " definition of HP:0003655 (Reduced level of N-acetylglucosaminyltransferase II)\n", + " \n", + " \n", + " #Deficient N-acetylglucosaminyltransferase II\n", + " definition of HP:0003655 (Reduced level of N-acetylglucosaminyltransferase II)\n", + " \n", + " \n", + " Sclerotic vertebral body\n", + " definition of HP:0100861 (Sclerotic vertebral body)\n", + " \n", + " \n", + " Increase in bone density of the vertebral body.\n", + " definition of HP:0100861 (Sclerotic vertebral body)\n", + " \n", + " \n", + " #Vertebral body sclerosis\n", + " definition of HP:0100861 (Sclerotic vertebral body)\n", + " \n", + " \n", + " Abnormality of intracranial pressure\n", + " definition of HP:0012640 (Abnormality of intracranial pressure)\n", + " \n", + " \n", + " A deviation from the norm of the intracranial pressure.\n", + " definition of HP:0012640 (Abnormality of intracranial pressure)\n", + " \n", + " \n", + " Abnormality of skin adnexa physiology\n", + " definition of HP:0025276 (Abnormality of skin adnexa physiology)\n", + " \n", + " \n", + " Any functional anomaly of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands.\n", + " definition of HP:0025276 (Abnormality of skin adnexa physiology)\n", + " \n", + " \n", + " Elevated circulating 7-dehydrocholesterol concentration\n", + " definition of HP:0010569 (Elevated circulating 7-dehydrocholesterol concentration)\n", + " \n", + " \n", + " Concentration of 7-dehydrocholesterol in the blood circulation above the upper limit of normal.\n", + " definition of HP:0010569 (Elevated circulating 7-dehydrocholesterol concentration)\n", + " \n", + " \n", + " #Elevated levels of cholesta-5,7-dien-3beta-ol\n", + " definition of HP:0010569 (Elevated circulating 7-dehydrocholesterol concentration)\n", + " \n", + " \n", + " Abnormality of retinal pigmentation\n", + " definition of HP:0007703 (Abnormality of retinal pigmentation)\n", + " \n", + " \n", + " #Abnormal retinal pigmentation #Abnormality of retinal pigment epithelium #Abnormality of RPE #Retinal pigmentary anomaly\n", + " definition of HP:0007703 (Abnormality of retinal pigmentation)\n", + " \n", + " \n", + " Caseous vernix-like desquamation\n", + " definition of HP:0025724 (Caseous vernix-like desquamation)\n", + " \n", + " \n", + " Vernix caseosa is a physiological, viscous biofilm that is produced by desquamated fetal skin and sebaceous glands covering the fetus at the third trimester in-utero. The substance's gross morphology in post-partum is described by the etymology, as vernix means varnish, and caseosa means cheesy-like matter. This finding refers to an abnormally thick and greasy vernix caseosa-like scale present at birth.\n", + " definition of HP:0025724 (Caseous vernix-like desquamation)\n", + " \n", + " \n", + " #Greasy, thick vernix caseosa-like scale\n", + " definition of HP:0025724 (Caseous vernix-like desquamation)\n", + " \n", + " \n", + " Dorsal column degeneration\n", + " definition of HP:0007006 (Dorsal column degeneration)\n", + " \n", + " \n", + " Diminishment of relationship seeking\n", + " definition of HP:5200320 (Diminishment of relationship seeking)\n", + " \n", + " \n", + " A reduction in the tendency of a person to seek new interpersonal relationships or maintain existing relationships.\n", + " definition of HP:5200320 (Diminishment of relationship seeking)\n", + " \n", + " \n", + " #Decreased seeking of relationships #Introversion #Self-isolation #Social isolation\n", + " definition of HP:5200320 (Diminishment of relationship seeking)\n", + " \n", + " \n", + " Positive streptococcus A rapid antigen detection test\n", + " definition of HP:6000733 (Positive streptococcus A rapid antigen detection test)\n", + " \n", + " \n", + " Positive detection of a group A streptococcal antigen in a test perforned on a throat swab.\n", + " definition of HP:6000733 (Positive streptococcus A rapid antigen detection test)\n", + " \n", + " \n", + " Decreased adiponectin level\n", + " definition of HP:0030685 (Decreased adiponectin level)\n", + " \n", + " \n", + " A reduced circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue.\n", + " definition of HP:0030685 (Decreased adiponectin level)\n", + " \n", + " \n", + " Focal aware hemiclonic seizure\n", + " definition of HP:0032757 (Focal aware hemiclonic seizure)\n", + " \n", + " \n", + " A focal hemiclonic seizure in which awareness is retained throughout.\n", + " definition of HP:0032757 (Focal aware hemiclonic seizure)\n", + " \n", + " \n", + " Patchy hypo- and hyperpigmentation\n", + " definition of HP:0007509 (Patchy hypo- and hyperpigmentation)\n", + " \n", + " \n", + " #Patchy hypo- and hyper-pigmentation\n", + " definition of HP:0007509 (Patchy hypo- and hyperpigmentation)\n", + " \n", + " \n", + " Death in middle age\n", + " definition of HP:0033764 (Death in middle age)\n", + " \n", + " \n", + " Death between the age of 40 and 60 years.\n", + " definition of HP:0033764 (Death in middle age)\n", + " \n", + " \n", + " Neuroectodermal neoplasm\n", + " definition of HP:0030061 (Neuroectodermal neoplasm)\n", + " \n", + " \n", + " A neoplasm arising in the neuroectoderm, the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems, including some glial cells.\n", + " definition of HP:0030061 (Neuroectodermal neoplasm)\n", + " \n", + " \n", + " Irregular epiphysis of the distal phalanx of the 3rd toe\n", + " definition of HP:0100140 (Irregular epiphysis of the distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Irregular end part of the outermost bone of the 3rd toe\n", + " definition of HP:0100140 (Irregular epiphysis of the distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Jaw swelling\n", + " definition of HP:0030793 (Jaw swelling)\n", + " \n", + " \n", + " Abnormal enlargement in the upper jaw (maxilla) or in the lower jaw (mandible).\n", + " definition of HP:0030793 (Jaw swelling)\n", + " \n", + " \n", + " Hiker's feet\n", + " definition of HP:6001014 (Hiker's feet)\n", + " \n", + " \n", + " Hyperkeratotic scaly fissured plaques on the fingers/palms or soles, generally more evident on the lateral aspect of index fingers.\n", + " definition of HP:6001014 (Hiker's feet)\n", + " \n", + " \n", + " Elevated circulating 4-hydroxyphenylacetic acid concentration\n", + " definition of HP:0033302 (Elevated circulating 4-hydroxyphenylacetic acid concentration)\n", + " \n", + " \n", + " The concentration of 4-Hydroxyphenylacetic acid in the blood circulation is above the upper limit of normal.\n", + " definition of HP:0033302 (Elevated circulating 4-hydroxyphenylacetic acid concentration)\n", + " \n", + " \n", + " Valvular pulmonary stenosis\n", + " definition of HP:0034350 (Valvular pulmonary stenosis)\n", + " \n", + " \n", + " A cardiovascular malformation associated with narrowing of the outflow tract of the right ventricle immediately at the level of the pulmonary valve.\n", + " definition of HP:0034350 (Valvular pulmonary stenosis)\n", + " \n", + " \n", + " Failure to elevate ammonia on ischemic exercise\n", + " definition of HP:6000320 (Failure to elevate ammonia on ischemic exercise)\n", + " \n", + " \n", + " Normal subjects display an increase in the concentration of ammonia in the blood following an ischemic exercise test. This term refers to an increase in ammonia that is below the lower limit of normal.\n", + " definition of HP:6000320 (Failure to elevate ammonia on ischemic exercise)\n", + " \n", + " \n", + " Arachnoid granulation\n", + " definition of HP:0034454 (Arachnoid granulation)\n", + " \n", + " \n", + " Arachnoid granulations (AGs) are tufts of arachnoid membrane invaginated into the dural sinuses through which cerebrospinal fluid (CSF) enters the venous system. The lesions are primarily located in the parasagittal region along the superior sagittal sinus, which is occasionally seen at the transverse sinus. Normally dural venous sinus AGs typically range from 2 to 8 mm in size, but may grow enough to expand the dural sinuses, and even the inner table, diploic space and outer table of the skull.\n", + " definition of HP:0034454 (Arachnoid granulation)\n", + " \n", + " \n", + " Elevated circulating 3-methyl-2-oxovaleric acid concentration\n", + " definition of HP:0033436 (Elevated circulating 3-methyl-2-oxovaleric acid concentration)\n", + " \n", + " \n", + " The concentration of 3-methyl-2-oxovaleric acidin the blood circulation is above the upper limit of normal.\n", + " definition of HP:0033436 (Elevated circulating 3-methyl-2-oxovaleric acid concentration)\n", + " \n", + " \n", + " Spermatocyte maturation arrest\n", + " definition of HP:0031039 (Spermatocyte maturation arrest)\n", + " \n", + " \n", + " A type of spermatogenesis maturation arrest in which the block of developmental occurs in the spermatocyte stage. Testicular histology shows seminiferous tubules with Sertoli cells, spermatogonial cells and spermatocytes but no further differentiated cells like round spermatids.\n", + " definition of HP:0031039 (Spermatocyte maturation arrest)\n", + " \n", + " \n", + " #Spermatocyte arrest #Spermatocyte meiotic arrest #Spermatocytic arrest\n", + " definition of HP:0031039 (Spermatocyte maturation arrest)\n", + " \n", + " \n", + " Abnormal superior vena cava morphology\n", + " definition of HP:0025575 (Abnormal superior vena cava morphology)\n", + " \n", + " \n", + " Any structural anomaly of the principal vein draining blood from the upper portion of the body and delivering it to the right ventricle of the heart.\n", + " definition of HP:0025575 (Abnormal superior vena cava morphology)\n", + " \n", + " \n", + " Pinhole visual acuity 0.9 LogMAR\n", + " definition of HP:0030577 (Pinhole visual acuity 0.9 LogMAR)\n", + " \n", + " \n", + " Irregular epiphysis of the proximal phalanx of the 3rd finger\n", + " definition of HP:0009351 (Irregular epiphysis of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 3rd finger.\n", + " definition of HP:0009351 (Irregular epiphysis of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Irregular end part of innermost long bone of the middle finger\n", + " definition of HP:0009351 (Irregular epiphysis of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Abnormality of the gluteal musculature\n", + " definition of HP:0001443 (Abnormality of the gluteal musculature)\n", + " \n", + " \n", + " #Abnormality of glutes\n", + " definition of HP:0001443 (Abnormality of the gluteal musculature)\n", + " \n", + " \n", + " Generalized amyloid deposition\n", + " definition of HP:0003216 (Generalized amyloid deposition)\n", + " \n", + " \n", + " A diffuse form of amyloidosis.\n", + " definition of HP:0003216 (Generalized amyloid deposition)\n", + " \n", + " \n", + " #Generalised amyloid deposition\n", + " definition of HP:0003216 (Generalized amyloid deposition)\n", + " \n", + " \n", + " Branchial fistula\n", + " definition of HP:0009795 (Branchial fistula)\n", + " \n", + " \n", + " A congenital fistula in the neck resulting from incomplete closure of a branchial cleft.\n", + " definition of HP:0009795 (Branchial fistula)\n", + " \n", + " \n", + " #Branchial cleft fistula\n", + " definition of HP:0009795 (Branchial fistula)\n", + " \n", + " \n", + " Lacrimal duct stenosis\n", + " definition of HP:0007678 (Lacrimal duct stenosis)\n", + " \n", + " \n", + " Narrowing of a tear duct (lacrimal duct).\n", + " definition of HP:0007678 (Lacrimal duct stenosis)\n", + " \n", + " \n", + " #Narrowing of the tear duct #Nasolacrimal duct stenosis\n", + " definition of HP:0007678 (Lacrimal duct stenosis)\n", + " \n", + " \n", + " Anti-MDA5 antibody positivity\n", + " definition of HP:0033033 (Anti-MDA5 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies in the serum that react to Anti-MDA5 (Anti-melanoma differentiation-associated proteine 5).\n", + " definition of HP:0033033 (Anti-MDA5 antibody positivity)\n", + " \n", + " \n", + " #Increased level of anti-melanoma differentiation-associated protein 5 antibodies\n", + " definition of HP:0033033 (Anti-MDA5 antibody positivity)\n", + " \n", + " \n", + " Hemidystonia\n", + " definition of HP:0032005 (Hemidystonia)\n", + " \n", + " \n", + " Hemidystonia refers to dystonia which involves the ipsilateral face, arm, and leg.\n", + " definition of HP:0032005 (Hemidystonia)\n", + " \n", + " \n", + " Hyponasal speech\n", + " definition of HP:0100271 (Hyponasal speech)\n", + " \n", + " \n", + " Hyponasal speech is when there is an abnormally reduced nasal airflow during speech often in a setting of nasal obstruction or congestion.\n", + " definition of HP:0100271 (Hyponasal speech)\n", + " \n", + " \n", + " Dacryocystocele\n", + " definition of HP:0030752 (Dacryocystocele)\n", + " \n", + " \n", + " A nasolacrimal duct obstruction presenting as a grey-blue cystic swelling just below the medial canthus. Believed to be a result of concomitant upper obstruction of the Rosenmuller valve and lower obstruction of the Hasner valve.\n", + " definition of HP:0030752 (Dacryocystocele)\n", + " \n", + " \n", + " #Timo cyst\n", + " definition of HP:0030752 (Dacryocystocele)\n", + " \n", + " \n", + " Complete or near-complete absence of specific antibody response to hepatitis B vaccine\n", + " definition of HP:0410296 (Complete or near-complete absence of specific antibody response to hepatitis B vaccine)\n", + " \n", + " \n", + " The inability to synthesize postvaccination antibodies against a hepatisis B antigen, as measured by antibody titer determination following vaccination.\n", + " definition of HP:0410296 (Complete or near-complete absence of specific antibody response to hepatitis B vaccine)\n", + " \n", + " \n", + " Decreased circulating beta-mannosidase activity\n", + " definition of HP:0034367 (Decreased circulating beta-mannosidase activity)\n", + " \n", + " \n", + " Activity of the enzyme beta-mannosidase below the lower limit of normal. Beta-mannosidase is a lysosomal enzyme that catabolizes oligosaccharides.\n", + " definition of HP:0034367 (Decreased circulating beta-mannosidase activity)\n", + " \n", + " \n", + " Impaired touch localization\n", + " definition of HP:0011811 (Impaired touch localization)\n", + " \n", + " \n", + " A reduced ability to identify precisely the site of a touch. This test is usually carried out by asking a patient, whose eyes are closed or covered, to touch the same site with a fingertip.\n", + " definition of HP:0011811 (Impaired touch localization)\n", + " \n", + " \n", + " #Impaired topognosis #Impaired touch localisation\n", + " definition of HP:0011811 (Impaired touch localization)\n", + " \n", + " \n", + " Hypoplasia of penis\n", + " definition of HP:0008736 (Hypoplasia of penis)\n", + " \n", + " \n", + " #Underdeveloped penis\n", + " definition of HP:0008736 (Hypoplasia of penis)\n", + " \n", + " \n", + " Abnormal foveal morphology on macular OCT\n", + " definition of HP:0030613 (Abnormal foveal morphology on macular OCT)\n", + " \n", + " \n", + " Abnormal aromatase activity\n", + " definition of HP:0034698 (Abnormal aromatase activity)\n", + " \n", + " \n", + " Aromatase activity outside of the normal range.\n", + " definition of HP:0034698 (Abnormal aromatase activity)\n", + " \n", + " \n", + " Darwin tubercle of helix\n", + " definition of HP:0011261 (Darwin tubercle of helix)\n", + " \n", + " \n", + " Small expansion of the helical fold at the junction of the superior and descending portions of the helix.\n", + " definition of HP:0011261 (Darwin tubercle of helix)\n", + " \n", + " \n", + " #Helix, Darwin tubercle\n", + " definition of HP:0011261 (Darwin tubercle of helix)\n", + " \n", + " \n", + " Nasal hamartoma\n", + " definition of HP:6000078 (Nasal hamartoma)\n", + " \n", + " \n", + " A hamartoma (tissue malformation consisting of an abnormal mixture of constitutive components) originating in the nose.\n", + " definition of HP:6000078 (Nasal hamartoma)\n", + " \n", + " \n", + " Abnormal cerebral venous sinus morphology\n", + " definition of HP:0033723 (Abnormal cerebral venous sinus morphology)\n", + " \n", + " \n", + " Abnormal structure of the venous sinuses that drain blood from the cerebral veins and cerebrospinal fluid (CSF) from the arachnoid granulations to the internal jugular veins.\n", + " definition of HP:0033723 (Abnormal cerebral venous sinus morphology)\n", + " \n", + " \n", + " #Abnormal dural venous sinus morphology #Abnormality of the cerebral venous sinuses\n", + " definition of HP:0033723 (Abnormal cerebral venous sinus morphology)\n", + " \n", + " \n", + " Prevertebral space enlargement\n", + " definition of HP:6000290 (Prevertebral space enlargement)\n", + " \n", + " \n", + " Increase in the anterior posterior dimension of the prevertebral space, which is located in the neck region between the anterior part of the cervical spine and the deep layer of the deep cervical fascia running between the transverse processes of the spine.\n", + " definition of HP:6000290 (Prevertebral space enlargement)\n", + " \n", + " \n", + " #Increased pre-vertebral space\n", + " definition of HP:6000290 (Prevertebral space enlargement)\n", + " \n", + " \n", + " Nyctalopia\n", + " definition of HP:0000662 (Nyctalopia)\n", + " \n", + " \n", + " Inability to see well at night or in poor light.\n", + " definition of HP:0000662 (Nyctalopia)\n", + " \n", + " \n", + " #Night blindness #Night-blindness #Poor night vision\n", + " definition of HP:0000662 (Nyctalopia)\n", + " \n", + " \n", + " Abnormal scapula morphology\n", + " definition of HP:0000782 (Abnormal scapula morphology)\n", + " \n", + " \n", + " Any abnormality of the scapula, also known as the shoulder blade.\n", + " definition of HP:0000782 (Abnormal scapula morphology)\n", + " \n", + " \n", + " #Abnormality of the shoulder blade\n", + " definition of HP:0000782 (Abnormal scapula morphology)\n", + " \n", + " \n", + " Triangular epiphyses of the phalanges of the hand\n", + " definition of HP:0010238 (Triangular epiphyses of the phalanges of the hand)\n", + " \n", + " \n", + " A triangular appearance of the epiphyses of the phalanges of the fingers of the hand.\n", + " definition of HP:0010238 (Triangular epiphyses of the phalanges of the hand)\n", + " \n", + " \n", + " #Delta-shaped epiphyses of the fingers #Triangular end part of finger bones #Triangular epiphyses of the fingers\n", + " definition of HP:0010238 (Triangular epiphyses of the phalanges of the hand)\n", + " \n", + " \n", + " Narrow nasal tip\n", + " definition of HP:0011832 (Narrow nasal tip)\n", + " \n", + " \n", + " Decrease in width of the nasal tip.\n", + " definition of HP:0011832 (Narrow nasal tip)\n", + " \n", + " \n", + " #Narrow nasal tip #Narrow tip of nose #Nasal tip, narrow #Nasal tip, pinched #Pinched nasal tip #Pinched tip of nose #Thin nasal tip #Thin tip of nose\n", + " definition of HP:0011832 (Narrow nasal tip)\n", + " \n", + " \n", + " Neoplasm of the parathyroid gland\n", + " definition of HP:0100733 (Neoplasm of the parathyroid gland)\n", + " \n", + " \n", + " A tumor (abnormal growth of tissue) of the parathyroid gland.\n", + " definition of HP:0100733 (Neoplasm of the parathyroid gland)\n", + " \n", + " \n", + " #Parathyroid neoplasia\n", + " definition of HP:0100733 (Neoplasm of the parathyroid gland)\n", + " \n", + " \n", + " Bilateral superior vena cava with no bridging vein\n", + " definition of HP:0011668 (Bilateral superior vena cava with no bridging vein)\n", + " \n", + " \n", + " Soft tissue swelling of interphalangeal joints\n", + " definition of HP:0006162 (Soft tissue swelling of interphalangeal joints)\n", + " \n", + " \n", + " #Soft tissue swelling of hinge joints\n", + " definition of HP:0006162 (Soft tissue swelling of interphalangeal joints)\n", + " \n", + " \n", + " Duplication of the distal phalanx of the thumb\n", + " definition of HP:0009612 (Duplication of the distal phalanx of the thumb)\n", + " \n", + " \n", + " Complete or partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side.\n", + " definition of HP:0009612 (Duplication of the distal phalanx of the thumb)\n", + " \n", + " \n", + " #Double thumb distal phalanges #Duplicated terminal phalanx of thumb #Duplication of distal thumb phalanx #Duplication of terminal thumb phalanx #Duplication of the outermost bone of the thumb #Partial/complete duplication of the distal phalanx of the thumb\n", + " definition of HP:0009612 (Duplication of the distal phalanx of the thumb)\n", + " \n", + " \n", + " Stippling of the epiphyses of the 2nd finger\n", + " definition of HP:0009497 (Stippling of the epiphyses of the 2nd finger)\n", + " \n", + " \n", + " The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd finger.\n", + " definition of HP:0009497 (Stippling of the epiphyses of the 2nd finger)\n", + " \n", + " \n", + " #Speckled calcifications in end part of the index finger\n", + " definition of HP:0009497 (Stippling of the epiphyses of the 2nd finger)\n", + " \n", + " \n", + " Leukodystrophy\n", + " definition of HP:0002415 (Leukodystrophy)\n", + " \n", + " \n", + " Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies.\n", + " definition of HP:0002415 (Leukodystrophy)\n", + " \n", + " \n", + " #Degeneration of white matter of brain\n", + " definition of HP:0002415 (Leukodystrophy)\n", + " \n", + " \n", + " Short proximal phalanx of the 3rd finger\n", + " definition of HP:0009459 (Short proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Hypoplasia (congenital reduction in size) of the proximal phalanx of the third finger.\n", + " definition of HP:0009459 (Short proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Hypoplastic/small proximal phalanx of the 3rd finger #Short innermost bone of middle finger #Short proximal middle-finger phalanx #Short proximal phalanx of the third finger #Small proximal middle-finger phalanx\n", + " definition of HP:0009459 (Short proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Agammaglobulinemia\n", + " definition of HP:0004432 (Agammaglobulinemia)\n", + " \n", + " \n", + " A lasting absence of total IgG and total IgA and total IgM in the blood circulation, whereby at most trace quantities can be measured.\n", + " definition of HP:0004432 (Agammaglobulinemia)\n", + " \n", + " \n", + " #Agammaglobulinaemia\n", + " definition of HP:0004432 (Agammaglobulinemia)\n", + " \n", + " \n", + " Decreased level of tissue plasminogen activator\n", + " definition of HP:0040230 (Decreased level of tissue plasminogen activator)\n", + " \n", + " \n", + " The tPA protein catalyzes the conversion of plasiminogen to plasmin, and thus break down of clots. When there is a deficiency there will be an increase of thrombosis\n", + " definition of HP:0040230 (Decreased level of tissue plasminogen activator)\n", + " \n", + " \n", + " #Decreased level of tPA\n", + " definition of HP:0040230 (Decreased level of tissue plasminogen activator)\n", + " \n", + " \n", + " Aortic stiffness\n", + " definition of HP:0030965 (Aortic stiffness)\n", + " \n", + " \n", + " The elastic properties of the aorta allow the aorta to store half of the cardiac ejected blood volume per beat, whereby aortic recoil during diastole pushes the remaining stored volume forward into the peripheral circulation, a phenomenon known as the Windkessel function. Aortic stiffness occurs as the elastic fibers within the arterial wall become disrupted due to mechanical stress (with age or due to other factors). Aortic stiffness refers to a reduction in the elasticity of the aorta, which is associated with an elevated pulse pressure, increased wave reflection, and often hypertension.\n", + " definition of HP:0030965 (Aortic stiffness)\n", + " \n", + " \n", + " #Increased aortic stiffness\n", + " definition of HP:0030965 (Aortic stiffness)\n", + " \n", + " \n", + " Ganglioneuromatosis\n", + " definition of HP:0025151 (Ganglioneuromatosis)\n", + " \n", + " \n", + " Hyperplastic submucosal and myenteric plexus containing an increased number of ganglion cells, glial cells and nerve fibers.\n", + " definition of HP:0025151 (Ganglioneuromatosis)\n", + " \n", + " \n", + " Laryngeal cartilage malformation\n", + " definition of HP:0008752 (Laryngeal cartilage malformation)\n", + " \n", + " \n", + " A malformation of the laryngeal cartilage.\n", + " definition of HP:0008752 (Laryngeal cartilage malformation)\n", + " \n", + " \n", + " #Vocal impairment, severe, due to laryngeal cartilage abnormalities\n", + " definition of HP:0008752 (Laryngeal cartilage malformation)\n", + " \n", + " \n", + " Abnormal T cell subset distribution\n", + " definition of HP:0025540 (Abnormal T cell subset distribution)\n", + " \n", + " \n", + " Any abnormality in the proportion T cells subsets relative to the total number of T cells.\n", + " definition of HP:0025540 (Abnormal T cell subset distribution)\n", + " \n", + " \n", + " Tracheobronchmegaly\n", + " definition of HP:0010776 (Tracheobronchmegaly)\n", + " \n", + " \n", + " Marked widening of the trachea and major bronchi that may be predispose to chronic respiratory tract infection.\n", + " definition of HP:0010776 (Tracheobronchmegaly)\n", + " \n", + " \n", + " Abnormality of the hypothalamus-pituitary axis\n", + " definition of HP:0000864 (Abnormality of the hypothalamus-pituitary axis)\n", + " \n", + " \n", + " Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit.\n", + " definition of HP:0000864 (Abnormality of the hypothalamus-pituitary axis)\n", + " \n", + " \n", + " Oromotor apraxia\n", + " definition of HP:0007301 (Oromotor apraxia)\n", + " \n", + " \n", + " Oral-motor apraxia is the inability to volitionally sequence oral movements of the speech structure for nonspeech tasks in the absence of neuromuscular deficits such as paralysis or muscle weakness. Oral-motor apraxia is diagnosed when, despite intact sensory motor function an individual is unable to use these effector systems under voluntary control.\n", + " definition of HP:0007301 (Oromotor apraxia)\n", + " \n", + " \n", + " #Oral-motor apraxia\n", + " definition of HP:0007301 (Oromotor apraxia)\n", + " \n", + " \n", + " Palilalia\n", + " definition of HP:0031814 (Palilalia)\n", + " \n", + " \n", + " Palilalia is the involuntary repetition of one's own phrases, words, or syllables 2 or more times in a row. Typically, palilalic utterances decrease in volume with the increasing number of repetitions. Sometimes, the repetitions are also uttered with an accelerating speed.\n", + " definition of HP:0031814 (Palilalia)\n", + " \n", + " \n", + " Absence of Stensen duct\n", + " definition of HP:0000198 (Absence of Stensen duct)\n", + " \n", + " \n", + " #Absence of parotid duct #Absent stensen duct #Failure of development of parotid duct #Failure of development of stensen duct #Missing parotid duct #Missing stensen duct\n", + " definition of HP:0000198 (Absence of Stensen duct)\n", + " \n", + " \n", + " Abnormal ulnar metaphysis morphology\n", + " definition of HP:0004039 (Abnormal ulnar metaphysis morphology)\n", + " \n", + " \n", + " Any structural abnormality of the portion of the ulna between the epiphysis and the diaphysis.\n", + " definition of HP:0004039 (Abnormal ulnar metaphysis morphology)\n", + " \n", + " \n", + " #Abnormality of ulnar metaphysis\n", + " definition of HP:0004039 (Abnormal ulnar metaphysis morphology)\n", + " \n", + " \n", + " Abnormality of central motor conduction\n", + " definition of HP:0012079 (Abnormality of central motor conduction)\n", + " \n", + " \n", + " Any anomaly of the conduction of motor nerve impulses in the central nervous system.\n", + " definition of HP:0012079 (Abnormality of central motor conduction)\n", + " \n", + " \n", + " Fungal meningitis\n", + " definition of HP:0032159 (Fungal meningitis)\n", + " \n", + " \n", + " An infection of the meninges caused by a fungus. Generally, only individuals with deficiencies of the immune system contract fungal meningitis.\n", + " definition of HP:0032159 (Fungal meningitis)\n", + " \n", + " \n", + " Sudanophilic leukodystrophy\n", + " definition of HP:0003269 (Sudanophilic leukodystrophy)\n", + " \n", + " \n", + " Predominant small joint localization\n", + " definition of HP:0032544 (Predominant small joint localization)\n", + " \n", + " \n", + " Applies to an abnormality that mainly affects the small joints, including fingers, toes, interphalangeal, metacarpophalangeal, metatarsophalangeal, wrists, ankles, vertebrae, and neck.\n", + " definition of HP:0032544 (Predominant small joint localization)\n", + " \n", + " \n", + " Abnormal blood urea nitrogen concentration\n", + " definition of HP:0031970 (Abnormal blood urea nitrogen concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of urea nitrogen in the blood.\n", + " definition of HP:0031970 (Abnormal blood urea nitrogen concentration)\n", + " \n", + " \n", + " #Abnormal BUN concentration\n", + " definition of HP:0031970 (Abnormal blood urea nitrogen concentration)\n", + " \n", + " \n", + " Anomalous origin of the left anterior descending artery from the pulmonary artery\n", + " definition of HP:0031638 (Anomalous origin of the left anterior descending artery from the pulmonary artery)\n", + " \n", + " \n", + " The left anterior descending artery (LAD) branches off from the pulmonary artery.\n", + " definition of HP:0031638 (Anomalous origin of the left anterior descending artery from the pulmonary artery)\n", + " \n", + " \n", + " Abnormality of hepatobiliary system physiology\n", + " definition of HP:0025155 (Abnormality of hepatobiliary system physiology)\n", + " \n", + " \n", + " A functional anomaly of the hepatobiliary system\n", + " definition of HP:0025155 (Abnormality of hepatobiliary system physiology)\n", + " \n", + " \n", + " Anti-H4 antibody positivity\n", + " definition of HP:0033573 (Anti-H4 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies in the blood circulation that react against histone H4.\n", + " definition of HP:0033573 (Anti-H4 antibody positivity)\n", + " \n", + " \n", + " T2-hyperintense putaminal rim\n", + " definition of HP:6001084 (T2-hyperintense putaminal rim)\n", + " \n", + " \n", + " Increased signal on T2 magnetic resonance imaging characterized by a linear region of high signal surrounding the lateral aspect of the putamen at 1.5 Tesla.\n", + " definition of HP:6001084 (T2-hyperintense putaminal rim)\n", + " \n", + " \n", + " Impaired folate absorption\n", + " definition of HP:6000258 (Impaired folate absorption)\n", + " \n", + " \n", + " Reduced ability to absorb folate in the diet. This finding can be measured by a folic acid loading test in which blood concentration of folate is measured after oral administration of folic acid.\n", + " definition of HP:6000258 (Impaired folate absorption)\n", + " \n", + " \n", + " Dermal translucency\n", + " definition of HP:0010648 (Dermal translucency)\n", + " \n", + " \n", + " An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility.\n", + " definition of HP:0010648 (Dermal translucency)\n", + " \n", + " \n", + " #Translucent skin\n", + " definition of HP:0010648 (Dermal translucency)\n", + " \n", + " \n", + " Delayed eruption of teeth\n", + " definition of HP:0000684 (Delayed eruption of teeth)\n", + " \n", + " \n", + " Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.\n", + " definition of HP:0000684 (Delayed eruption of teeth)\n", + " \n", + " \n", + " #Delayed dental development #Delayed dental eruption #Delayed eruption #Delayed eruption of teeth #Delayed teeth eruption #Delayed tooth eruption #Eruption, delayed #Late eruption of teeth #Late tooth eruption\n", + " definition of HP:0000684 (Delayed eruption of teeth)\n", + " \n", + " \n", + " Interlobular vein intima/media venulitis\n", + " definition of HP:0033967 (Interlobular vein intima/media venulitis)\n", + " \n", + " \n", + " Inflammation of the interlobular veins of the kidney which may affect only the intima or may be transmural.\n", + " definition of HP:0033967 (Interlobular vein intima/media venulitis)\n", + " \n", + " \n", + " #Venulitis within interlobular vein intima/media\n", + " definition of HP:0033967 (Interlobular vein intima/media venulitis)\n", + " \n", + " \n", + " Exacerbated by barbiturate exposure\n", + " definition of HP:0032502 (Exacerbated by barbiturate exposure)\n", + " \n", + " \n", + " Applied to a sign or symptom that is worsened by taking barbituates.\n", + " definition of HP:0032502 (Exacerbated by barbiturate exposure)\n", + " \n", + " \n", + " #Barbiturates produce worsening\n", + " definition of HP:0032502 (Exacerbated by barbiturate exposure)\n", + " \n", + " \n", + " Recurrent intrapulmonary hemorrhage\n", + " definition of HP:0006535 (Recurrent intrapulmonary hemorrhage)\n", + " \n", + " \n", + " A recurrent hemorrhage occurring within the lung.\n", + " definition of HP:0006535 (Recurrent intrapulmonary hemorrhage)\n", + " \n", + " \n", + " #Recurrent bleeding into lungs #Recurrent intrapulmonary haemorrhage #Recurrent pulmonary haemorrhage #Recurrent pulmonary hemorrhage\n", + " definition of HP:0006535 (Recurrent intrapulmonary hemorrhage)\n", + " \n", + " \n", + " Upbeat nystagmus\n", + " definition of HP:0011477 (Upbeat nystagmus)\n", + " \n", + " \n", + " In primary position, the eyes drift slowly downward and then spontaneously beat upward. Upward gaze accentuates the nystagmus. The associated oscillopsias are often very irritating, but the symptoms are usually transient.\n", + " definition of HP:0011477 (Upbeat nystagmus)\n", + " \n", + " \n", + " Macrodontia of permanent maxillary central incisor\n", + " definition of HP:0000675 (Macrodontia of permanent maxillary central incisor)\n", + " \n", + " \n", + " Increased size of the maxillary central secondary incisor tooth.\n", + " definition of HP:0000675 (Macrodontia of permanent maxillary central incisor)\n", + " \n", + " \n", + " #Increased width of permanent maxillary central incisor #Increased width of permanent upper central incisor #Long maxillary central incisors #Prominent upper incisors #Prominent, protruding upper incisors\n", + " definition of HP:0000675 (Macrodontia of permanent maxillary central incisor)\n", + " \n", + " \n", + " Abnormality of the humeroulnar joint\n", + " definition of HP:0100745 (Abnormality of the humeroulnar joint)\n", + " \n", + " \n", + " An anomaly of the joint between the trochlear notch of ulna and the trochlea of humerus, which is part of the elbow joint.\n", + " definition of HP:0100745 (Abnormality of the humeroulnar joint)\n", + " \n", + " \n", + " Retrobulbar optic neuritis\n", + " definition of HP:0100654 (Retrobulbar optic neuritis)\n", + " \n", + " \n", + " Optic neuritis that occurs in the section of the optic nerve located behind the eyeball.\n", + " definition of HP:0100654 (Retrobulbar optic neuritis)\n", + " \n", + " \n", + " #Retrobulbar neuritis\n", + " definition of HP:0100654 (Retrobulbar optic neuritis)\n", + " \n", + " \n", + " Pyknotic bone marrow neutrophils\n", + " definition of HP:0031019 (Pyknotic bone marrow neutrophils)\n", + " \n", + " \n", + " Nuclear lobes of neutrophils in the bone marrow are thickened and condensed, and individual lobes are connected by unusually long chromatin filaments.\n", + " definition of HP:0031019 (Pyknotic bone marrow neutrophils)\n", + " \n", + " \n", + " Hypochromia\n", + " definition of HP:0032231 (Hypochromia)\n", + " \n", + " \n", + " A qualitative impression that red blood cells have less color than normal when examined under a microscope, usually related to a reduced amount of hemoglobin in the red blood cells.\n", + " definition of HP:0032231 (Hypochromia)\n", + " \n", + " \n", + " Facial capillary hemangioma\n", + " definition of HP:0000996 (Facial capillary hemangioma)\n", + " \n", + " \n", + " Hemangioma, a benign tumor of the vascular endothelial cells with small endothelial spaces, occurring in the face.\n", + " definition of HP:0000996 (Facial capillary hemangioma)\n", + " \n", + " \n", + " Myocardial granulomatous infiltrates\n", + " definition of HP:0031325 (Myocardial granulomatous infiltrates)\n", + " \n", + " \n", + " The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the myocardium.\n", + " definition of HP:0031325 (Myocardial granulomatous infiltrates)\n", + " \n", + " \n", + " Incus ankylosis\n", + " definition of HP:6001071 (Incus ankylosis)\n", + " \n", + " \n", + " Incus ankylosis refers to congenital or acquired fixation of the incus, which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles).\n", + " definition of HP:6001071 (Incus ankylosis)\n", + " \n", + " \n", + " Focal aware autonomic seizure with palpitations/tachycardia/bradycardia/asystole\n", + " definition of HP:0032784 (Focal aware autonomic seizure with palpitations/tachycardia/bradycardia/asystole)\n", + " \n", + " \n", + " An autonomic seizure with palpitations / tachycardia / bradycardia / asystole characterized by retained awareness throughout the seizure.\n", + " definition of HP:0032784 (Focal aware autonomic seizure with palpitations/tachycardia/bradycardia/asystole)\n", + " \n", + " \n", + " Grade V vesicoureteral reflux\n", + " definition of HP:0033740 (Grade V vesicoureteral reflux)\n", + " \n", + " \n", + " Vesicoureteral reflux with massive dilation of the collecting system and severe tortuosity of the ureter.\n", + " definition of HP:0033740 (Grade V vesicoureteral reflux)\n", + " \n", + " \n", + " #Grade V VUR #VUR V\n", + " definition of HP:0033740 (Grade V vesicoureteral reflux)\n", + " \n", + " \n", + " Hepatopulmonary fusion\n", + " definition of HP:0410259 (Hepatopulmonary fusion)\n", + " \n", + " \n", + " Fusion of the liver with the lung.\n", + " definition of HP:0410259 (Hepatopulmonary fusion)\n", + " \n", + " \n", + " #Hepatic pulmonary fusion\n", + " definition of HP:0410259 (Hepatopulmonary fusion)\n", + " \n", + " \n", + " Abnormal pituitary glycoprotein hormone alpha subunit level\n", + " definition of HP:0032481 (Abnormal pituitary glycoprotein hormone alpha subunit level)\n", + " \n", + " \n", + " Any deviation from the normal concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081).\n", + " definition of HP:0032481 (Abnormal pituitary glycoprotein hormone alpha subunit level)\n", + " \n", + " \n", + " Granulocytic hyperplasia\n", + " definition of HP:0012138 (Granulocytic hyperplasia)\n", + " \n", + " \n", + " Large sternal ossification centers\n", + " definition of HP:0006642 (Large sternal ossification centers)\n", + " \n", + " \n", + " #Large sternal ossification centres\n", + " definition of HP:0006642 (Large sternal ossification centers)\n", + " \n", + " \n", + " Abnormality of body weight\n", + " definition of HP:0004323 (Abnormality of body weight)\n", + " \n", + " \n", + " An abnormal increase or decrease of weight or an abnormal distribution of mass in the body.\n", + " definition of HP:0004323 (Abnormality of body weight)\n", + " \n", + " \n", + " #Abnormality of body weight\n", + " definition of HP:0004323 (Abnormality of body weight)\n", + " \n", + " \n", + " Paradoxical increased cortisol secretion on dexamethasone suppression test\n", + " definition of HP:0003466 (Paradoxical increased cortisol secretion on dexamethasone suppression test)\n", + " \n", + " \n", + " Abnormality of abdominal situs\n", + " definition of HP:0011620 (Abnormality of abdominal situs)\n", + " \n", + " \n", + " An abnormality of the abdominal situs, i.e., of the sidedness of the abdomen and its organs.\n", + " definition of HP:0011620 (Abnormality of abdominal situs)\n", + " \n", + " \n", + " Pyriform sperm head\n", + " definition of HP:0034794 (Pyriform sperm head)\n", + " \n", + " \n", + " Pyriform spermatozoa consist of a normally shaped acrosomal structure which can be normal in size or enlarged, while the post-acrosomal region shows severe elongation and an acute narrowing to the posterior end, ending in about the same thickness as the connecting mid-piece.\n", + " definition of HP:0034794 (Pyriform sperm head)\n", + " \n", + " \n", + " #Pyriform head\n", + " definition of HP:0034794 (Pyriform sperm head)\n", + " \n", + " \n", + " Anti-plasminogen binding peptide antibody positivity\n", + " definition of HP:0034068 (Anti-plasminogen binding peptide antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against plasminogen binding peptide.\n", + " definition of HP:0034068 (Anti-plasminogen binding peptide antibody positivity)\n", + " \n", + " \n", + " #Anti-PBP antibody positivity\n", + " definition of HP:0034068 (Anti-plasminogen binding peptide antibody positivity)\n", + " \n", + " \n", + " Brachioradialis hyporeflexia\n", + " definition of HP:0033202 (Brachioradialis hyporeflexia)\n", + " \n", + " \n", + " Reduced intensity of the brachioradialis tendon reflex.\n", + " definition of HP:0033202 (Brachioradialis hyporeflexia)\n", + " \n", + " \n", + " Agenesis of corpus callosum\n", + " definition of HP:0001274 (Agenesis of corpus callosum)\n", + " \n", + " \n", + " Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline.\n", + " definition of HP:0001274 (Agenesis of corpus callosum)\n", + " \n", + " \n", + " #Absence of corpus callosum #Absent corpus callosum #Agenesis of the corpus callosum #Callosal agenesis #Corpus callosum agenesis #Dysplastic or absent corpus callosum\n", + " definition of HP:0001274 (Agenesis of corpus callosum)\n", + " \n", + " \n", + " Lateral thrust\n", + " definition of HP:6000140 (Lateral thrust)\n", + " \n", + " \n", + " Lateral thrust (LT) refers to an abnormal knee joint motion in the early stance phase where the knee joint center moves laterally. Also known as varus thrust, LR is defined as the dynamic worsening or abrupt onset of varus (bow-leg) alignment as the limb accepts weight (stance phase), with a return to less varus and more neutral alignment during lift-off and the non-weight-bearing (swing) phase of gait, varus thrust is a potent mechanical risk factor for medial knee osteoarthritis progression.\n", + " definition of HP:6000140 (Lateral thrust)\n", + " \n", + " \n", + " #Varus thrust\n", + " definition of HP:6000140 (Lateral thrust)\n", + " \n", + " \n", + " Polyarticular arthropathy\n", + " definition of HP:0005195 (Polyarticular arthropathy)\n", + " \n", + " \n", + " Tufted angioma\n", + " definition of HP:0012329 (Tufted angioma)\n", + " \n", + " \n", + " A vascular tumor of the skin and subcutaneous tissues and characterized by slow angiomatous proliferation.\n", + " definition of HP:0012329 (Tufted angioma)\n", + " \n", + " \n", + " #Angioblastoma #Angioblastoma of Nakagawa #Hypertrophic hemangioma #Progressive capillary hemangioma #Tufted hemangioma\n", + " definition of HP:0012329 (Tufted angioma)\n", + " \n", + " \n", + " Adversive status epilepticus\n", + " definition of HP:0032664 (Adversive status epilepticus)\n", + " \n", + " \n", + " A type of focal motor status epilepticus characterized by continuous neck or body rotation and conjugate gaze deviation in a direction contralateral to the responsible epileptic focus. This includes some forms of tonic status epilepticus.\n", + " definition of HP:0032664 (Adversive status epilepticus)\n", + " \n", + " \n", + " Dysplastic megalencephaly\n", + " definition of HP:0034329 (Dysplastic megalencephaly)\n", + " \n", + " \n", + " A congenital brain malformation characterized by marked overgrowth and dysplasia affecting one or both cerebral hemispheres, and, in some cases, subcortical brain regions as well. The presence of dysplasia in dysplastic megalencephaly distinguishes it from other forms of generalized megalencephaly.\n", + " definition of HP:0034329 (Dysplastic megalencephaly)\n", + " \n", + " \n", + " #Bilateral hemimegalencephaly\n", + " definition of HP:0034329 (Dysplastic megalencephaly)\n", + " \n", + " \n", + " Anti-Homer-3 antibody\n", + " definition of HP:5000015 (Anti-Homer-3 antibody)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Homer-3.\n", + " definition of HP:5000015 (Anti-Homer-3 antibody)\n", + " \n", + " \n", + " #Anti-Homer protein homolog 3 antibody\n", + " definition of HP:5000015 (Anti-Homer-3 antibody)\n", + " \n", + " \n", + " Abnormal proximal ulnar epiphysis morphology\n", + " definition of HP:0010601 (Abnormal proximal ulnar epiphysis morphology)\n", + " \n", + " \n", + " Any abnormality of the proximal epiphysis of the ulna.\n", + " definition of HP:0010601 (Abnormal proximal ulnar epiphysis morphology)\n", + " \n", + " \n", + " #Abnormality of the proximal ulnar epiphysis\n", + " definition of HP:0010601 (Abnormal proximal ulnar epiphysis morphology)\n", + " \n", + " \n", + " Absent outer dynein arms\n", + " definition of HP:0012256 (Absent outer dynein arms)\n", + " \n", + " \n", + " Absence of the outer dynein arms of respiratory motile cilia, which normally are situated outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy.\n", + " definition of HP:0012256 (Absent outer dynein arms)\n", + " \n", + " \n", + " Glaucoma\n", + " definition of HP:0000501 (Glaucoma)\n", + " \n", + " \n", + " Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.\n", + " definition of HP:0000501 (Glaucoma)\n", + " \n", + " \n", + " Lithoptysis\n", + " definition of HP:0032543 (Lithoptysis)\n", + " \n", + " \n", + " Expectoration (coughing up) of a broncholith. Broncholithiasis is defined as the presence of calculi in the tracheobronchial tree. It is a rare disease but can be characterized by clinical and radiological findings of a calcified lymph node eroding bronchial wall and opening into the bronchial lumen.\n", + " definition of HP:0032543 (Lithoptysis)\n", + " \n", + " \n", + " Cone-shaped epiphysis of the proximal phalanx of the 4th finger\n", + " definition of HP:0009263 (Cone-shaped epiphysis of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " A cone-shaped appearance of the epiphysis of the proximal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.\n", + " definition of HP:0009263 (Cone-shaped epiphysis of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " #Cone-shaped end part of the innermost bone of the ring finger\n", + " definition of HP:0009263 (Cone-shaped epiphysis of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " Abnormal urine metabolite level\n", + " definition of HP:0033354 (Abnormal urine metabolite level)\n", + " \n", + " \n", + " Any deviation from the normal amount of a metabolite in urine.\n", + " definition of HP:0033354 (Abnormal urine metabolite level)\n", + " \n", + " \n", + " Stroke\n", + " definition of HP:0001297 (Stroke)\n", + " \n", + " \n", + " Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.\n", + " definition of HP:0001297 (Stroke)\n", + " \n", + " \n", + " #Cerebral vascular events #Cerebrovascular accident #Stroke\n", + " definition of HP:0001297 (Stroke)\n", + " \n", + " \n", + " Transposition of the great arteries\n", + " definition of HP:0001669 (Transposition of the great arteries)\n", + " \n", + " \n", + " A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle.\n", + " definition of HP:0001669 (Transposition of the great arteries)\n", + " \n", + " \n", + " #Transposition of great vessels\n", + " definition of HP:0001669 (Transposition of the great arteries)\n", + " \n", + " \n", + " Pulmonary arterial hypertension with positive acute response to NO challenge\n", + " definition of HP:0033423 (Pulmonary arterial hypertension with positive acute response to NO challenge)\n", + " \n", + " \n", + " A form of pulmonary arterial hypertension in which there is a reduction of mean pulmonary artery pressure (mPAP) at least 10 mmHg to reach an absolute value of mPAP not more than 40 mmHg with an increased or unchanged cardiac output (CO) in response to inhaled nitric oxide at 10-20 ppm.\n", + " definition of HP:0033423 (Pulmonary arterial hypertension with positive acute response to NO challenge)\n", + " \n", + " \n", + " Cross-fusion of the forearm bones\n", + " definition of HP:0003958 (Cross-fusion of the forearm bones)\n", + " \n", + " \n", + " Abnormality of the shoulder girdle musculature\n", + " definition of HP:0001435 (Abnormality of the shoulder girdle musculature)\n", + " \n", + " \n", + " #Abnormality of shoulder musculature\n", + " definition of HP:0001435 (Abnormality of the shoulder girdle musculature)\n", + " \n", + " \n", + " Abnormal monocyte count\n", + " definition of HP:0012310 (Abnormal monocyte count)\n", + " \n", + " \n", + " An anomaly in the number of monocytes, which are myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells.\n", + " definition of HP:0012310 (Abnormal monocyte count)\n", + " \n", + " \n", + " #Abnormal monocyte number\n", + " definition of HP:0012310 (Abnormal monocyte count)\n", + " \n", + " \n", + " Abnormal aortic valve cusp morphology\n", + " definition of HP:0031567 (Abnormal aortic valve cusp morphology)\n", + " \n", + " \n", + " Any structural anomaly of the aortic valve leaflets.\n", + " definition of HP:0031567 (Abnormal aortic valve cusp morphology)\n", + " \n", + " \n", + " Adermatoglyphia\n", + " definition of HP:0007455 (Adermatoglyphia)\n", + " \n", + " \n", + " Hypertropia\n", + " definition of HP:0025586 (Hypertropia)\n", + " \n", + " \n", + " A type of strabismus characterized by permanent upward deviation of the visual axis of one eye.\n", + " definition of HP:0025586 (Hypertropia)\n", + " \n", + " \n", + " Sclerosis of the distal phalanx of the thumb\n", + " definition of HP:0100912 (Sclerosis of the distal phalanx of the thumb)\n", + " \n", + " \n", + " An elevation of bone density in the distal phalanx of the thumb.\n", + " definition of HP:0100912 (Sclerosis of the distal phalanx of the thumb)\n", + " \n", + " \n", + " #Increased bone density in the outermost bone of the thumb\n", + " definition of HP:0100912 (Sclerosis of the distal phalanx of the thumb)\n", + " \n", + " \n", + " Neonatal electro-clinical autonomic seizure\n", + " definition of HP:0032822 (Neonatal electro-clinical autonomic seizure)\n", + " \n", + " \n", + " Neonatal electro-clinical non-motor autonomic seizure is a type of neonatal electro-clinical seizure with predominant features of autonomic alterations, involving cardiovascular, pupillary, gastrointestinal, sudomotor, vasomotor, and thermoregulatory functions. May present as apnea.\n", + " definition of HP:0032822 (Neonatal electro-clinical autonomic seizure)\n", + " \n", + " \n", + " Renal oncocytoma\n", + " definition of HP:0011798 (Renal oncocytoma)\n", + " \n", + " \n", + " A renal tumor originating from an oncocyte, which is an epithelial cell characterized by an excessive amount of mitochondria, resulting in an abundant acidophilic, granular cytoplasm.\n", + " definition of HP:0011798 (Renal oncocytoma)\n", + " \n", + " \n", + " Aplasia/hypoplasia of the uterine cervix\n", + " definition of HP:0430114 (Aplasia/hypoplasia of the uterine cervix)\n", + " \n", + " \n", + " Congenital absence or underdevelopment of the uterine cervix.\n", + " definition of HP:0430114 (Aplasia/hypoplasia of the uterine cervix)\n", + " \n", + " \n", + " Ulnar deviation of the 4th finger\n", + " definition of HP:0009278 (Ulnar deviation of the 4th finger)\n", + " \n", + " \n", + " Displacement of the 4th finger towards the ulnar side (i.e., towards the 5th finger).\n", + " definition of HP:0009278 (Ulnar deviation of the 4th finger)\n", + " \n", + " \n", + " #Ulnar deviation of the ring finger\n", + " definition of HP:0009278 (Ulnar deviation of the 4th finger)\n", + " \n", + " \n", + " High axial triradius\n", + " definition of HP:0001042 (High axial triradius)\n", + " \n", + " \n", + " Combined immunodeficiency\n", + " definition of HP:0005387 (Combined immunodeficiency)\n", + " \n", + " \n", + " A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications.\n", + " definition of HP:0005387 (Combined immunodeficiency)\n", + " \n", + " \n", + " Hypertrophic nerve changes\n", + " definition of HP:0003382 (Hypertrophic nerve changes)\n", + " \n", + " \n", + " Tooth ankylosis\n", + " definition of HP:0033791 (Tooth ankylosis)\n", + " \n", + " \n", + " Fusion of a tooth with alveolar bone.\n", + " definition of HP:0033791 (Tooth ankylosis)\n", + " \n", + " \n", + " Webbed neck\n", + " definition of HP:0000465 (Webbed neck)\n", + " \n", + " \n", + " Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline.\n", + " definition of HP:0000465 (Webbed neck)\n", + " \n", + " \n", + " #Neck webbing #Pterygium colli #Webbed neck\n", + " definition of HP:0000465 (Webbed neck)\n", + " \n", + " \n", + " Short hallux\n", + " definition of HP:0010109 (Short hallux)\n", + " \n", + " \n", + " Underdevelopment (hypoplasia) of the big toe.\n", + " definition of HP:0010109 (Short hallux)\n", + " \n", + " \n", + " #Hypoplastic big toes #Hypoplastic hallux #Short big toe #Short halluces #Small hallux\n", + " definition of HP:0010109 (Short hallux)\n", + " \n", + " \n", + " Retinal vascular proliferation\n", + " definition of HP:0007850 (Retinal vascular proliferation)\n", + " \n", + " \n", + " Decreased serum bile acid concentration\n", + " definition of HP:0030985 (Decreased serum bile acid concentration)\n", + " \n", + " \n", + " A reduction in the concentration of bile acid in the blood.\n", + " definition of HP:0030985 (Decreased serum bile acid concentration)\n", + " \n", + " \n", + " Inferiorly positioned umbilicus\n", + " definition of HP:0032527 (Inferiorly positioned umbilicus)\n", + " \n", + " \n", + " The position of the umbilicus (belly button) is abnormally low (inferior).\n", + " definition of HP:0032527 (Inferiorly positioned umbilicus)\n", + " \n", + " \n", + " #Low set umbilicus #Low-set umbilicus\n", + " definition of HP:0032527 (Inferiorly positioned umbilicus)\n", + " \n", + " \n", + " Impaired fasting glucose\n", + " definition of HP:0025691 (Impaired fasting glucose)\n", + " \n", + " \n", + " Impaired fasting glucose (IFG) is indicated by a fasting plasma glucose above normal but below the diabetic range. Levels between 110 mg/dl (6.1 mmol/l) to 125 mg/dl (6.9 mmol/l) are diagnostic of IFG.\n", + " definition of HP:0025691 (Impaired fasting glucose)\n", + " \n", + " \n", + " Enlarged epiphysis of the distal phalanx of the 5th toe\n", + " definition of HP:0100205 (Enlarged epiphysis of the distal phalanx of the 5th toe)\n", + " \n", + " \n", + " #Enlarged end part of the outermost bone of the little toe #Enlarged end part of the outermost bone of the pinkie toe #Enlarged end part of the outermost bone of the pinky toe\n", + " definition of HP:0100205 (Enlarged epiphysis of the distal phalanx of the 5th toe)\n", + " \n", + " \n", + " Abnormal timing of flash visual evoked potentials\n", + " definition of HP:0030461 (Abnormal timing of flash visual evoked potentials)\n", + " \n", + " \n", + " Agenesis of mandibular incisor\n", + " definition of HP:0200161 (Agenesis of mandibular incisor)\n", + " \n", + " \n", + " #Agenesis of lower incisor #Failure of development of mandibular incisor\n", + " definition of HP:0200161 (Agenesis of mandibular incisor)\n", + " \n", + " \n", + " Arcuate artery intima/media necrosis\n", + " definition of HP:0033931 (Arcuate artery intima/media necrosis)\n", + " \n", + " \n", + " Death of tissue in the inner or middle layer of the arcuate artery of the kidney.\n", + " definition of HP:0033931 (Arcuate artery intima/media necrosis)\n", + " \n", + " \n", + " Abnormal cortical radial artery morphology\n", + " definition of HP:0033883 (Abnormal cortical radial artery morphology)\n", + " \n", + " \n", + " Any structural anomaly of the radial arteries that branch off at right angles from the arcuate artery and carry blood toward the cortex of the kidney.\n", + " definition of HP:0033883 (Abnormal cortical radial artery morphology)\n", + " \n", + " \n", + " #Abnormal interlobular artery morphology\n", + " definition of HP:0033883 (Abnormal cortical radial artery morphology)\n", + " \n", + " \n", + " Enlarged cerebellum\n", + " definition of HP:0012081 (Enlarged cerebellum)\n", + " \n", + " \n", + " An abnormally increased size of the cerebellum compared to other brain structures.\n", + " definition of HP:0012081 (Enlarged cerebellum)\n", + " \n", + " \n", + " Pancreatic mass\n", + " definition of HP:6000409 (Pancreatic mass)\n", + " \n", + " \n", + " A swelling or enlargement localized to the pancreas. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.\n", + " definition of HP:6000409 (Pancreatic mass)\n", + " \n", + " \n", + " Orthostatic hypotension\n", + " definition of HP:0001278 (Orthostatic hypotension)\n", + " \n", + " \n", + " A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position.\n", + " definition of HP:0001278 (Orthostatic hypotension)\n", + " \n", + " \n", + " #Decrease in blood pressure upon standing up #Postural hypotension\n", + " definition of HP:0001278 (Orthostatic hypotension)\n", + " \n", + " \n", + " Venous occlusion\n", + " definition of HP:0025322 (Venous occlusion)\n", + " \n", + " \n", + " Blockage of venous return (flow of blood from the periphery back towards the right atrium) in a vein.\n", + " definition of HP:0025322 (Venous occlusion)\n", + " \n", + " \n", + " Mild myopia\n", + " definition of HP:0025573 (Mild myopia)\n", + " \n", + " \n", + " A mild form of myopia with up to -3.00 diopters.\n", + " definition of HP:0025573 (Mild myopia)\n", + " \n", + " \n", + " Gaze-evoked horizontal nystagmus\n", + " definition of HP:0007979 (Gaze-evoked horizontal nystagmus)\n", + " \n", + " \n", + " Horizontal nystagmus made apparent by looking to the right or to the left.\n", + " definition of HP:0007979 (Gaze-evoked horizontal nystagmus)\n", + " \n", + " \n", + " #Nystagmus, horizontal, gaze-evoked\n", + " definition of HP:0007979 (Gaze-evoked horizontal nystagmus)\n", + " \n", + " \n", + " Sclerosis of 4th finger phalanx\n", + " definition of HP:0100920 (Sclerosis of 4th finger phalanx)\n", + " \n", + " \n", + " An elevation in bone density in one or more phalanges of the fourth finger. Sclerosis is normally detected on a radiograph as an area of increased opacity.\n", + " definition of HP:0100920 (Sclerosis of 4th finger phalanx)\n", + " \n", + " \n", + " #Increased bone density in ring finger bone #Sclerosis of the phalanges of the 4th finger\n", + " definition of HP:0100920 (Sclerosis of 4th finger phalanx)\n", + " \n", + " \n", + " Glomerular fibrin thrombus\n", + " definition of HP:0033292 (Glomerular fibrin thrombus)\n", + " \n", + " \n", + " An aggregate of coagulated blood containing fibrin, with or without entrapped cellular elements, within a glomerular capillary lumen.\n", + " definition of HP:0033292 (Glomerular fibrin thrombus)\n", + " \n", + " \n", + " Proportionate shortening of all digits\n", + " definition of HP:0006165 (Proportionate shortening of all digits)\n", + " \n", + " \n", + " #Proportionate shortening of all digits\n", + " definition of HP:0006165 (Proportionate shortening of all digits)\n", + " \n", + " \n", + " Abnormal ankle physiology\n", + " definition of HP:0034674 (Abnormal ankle physiology)\n", + " \n", + " \n", + " A functional anomaly of the ankle.\n", + " definition of HP:0034674 (Abnormal ankle physiology)\n", + " \n", + " \n", + " Anti-SARS-CoV-2 coronavirus antibody positivity\n", + " definition of HP:0430052 (Anti-SARS-CoV-2 coronavirus antibody positivity)\n", + " \n", + " \n", + " The presence of antibodies in the blood circulation that react against a component of the severe acute respiratory syndrome coronavirus type 2 (SARS-CoV-2).\n", + " definition of HP:0430052 (Anti-SARS-CoV-2 coronavirus antibody positivity)\n", + " \n", + " \n", + " Velopharyngeal insufficiency\n", + " definition of HP:0000220 (Velopharyngeal insufficiency)\n", + " \n", + " \n", + " Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech.\n", + " definition of HP:0000220 (Velopharyngeal insufficiency)\n", + " \n", + " \n", + " #Velopharyngeal incompetence\n", + " definition of HP:0000220 (Velopharyngeal insufficiency)\n", + " \n", + " \n", + " Brain xanthomatosis\n", + " definition of HP:0034625 (Brain xanthomatosis)\n", + " \n", + " \n", + " Lipid deposits localized within the brain. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia.\n", + " definition of HP:0034625 (Brain xanthomatosis)\n", + " \n", + " \n", + " #Brain xanthomas #Brain xanthomata\n", + " definition of HP:0034625 (Brain xanthomatosis)\n", + " \n", + " \n", + " Contracture of the distal interphalangeal joint of the 2nd toe\n", + " definition of HP:0100352 (Contracture of the distal interphalangeal joint of the 2nd toe)\n", + " \n", + " \n", + " The distal interphalangeal joint of the 2nd toe cannot be straightened actively or passively.\n", + " definition of HP:0100352 (Contracture of the distal interphalangeal joint of the 2nd toe)\n", + " \n", + " \n", + " #Contracture of the distal interphalangeal joint of the second toe\n", + " definition of HP:0100352 (Contracture of the distal interphalangeal joint of the 2nd toe)\n", + " \n", + " \n", + " Raw egg-white ingestion\n", + " definition of HP:4000126 (Raw egg-white ingestion)\n", + " \n", + " \n", + " A history of eating raw egg whites.\n", + " definition of HP:4000126 (Raw egg-white ingestion)\n", + " \n", + " \n", + " Anomalous origin of coronary artery from the pulmonary artery\n", + " definition of HP:0011637 (Anomalous origin of coronary artery from the pulmonary artery)\n", + " \n", + " \n", + " A coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta.\n", + " definition of HP:0011637 (Anomalous origin of coronary artery from the pulmonary artery)\n", + " \n", + " \n", + " High hypermetropia\n", + " definition of HP:0008499 (High hypermetropia)\n", + " \n", + " \n", + " A severe form of hypermetropia with over +5.00 diopters.\n", + " definition of HP:0008499 (High hypermetropia)\n", + " \n", + " \n", + " #High hyperopia #High-grade hypermetropia #Severe farsightedness #Severe long-sightedness\n", + " definition of HP:0008499 (High hypermetropia)\n", + " \n", + " \n", + " Rickets of the lower limbs\n", + " definition of HP:0006463 (Rickets of the lower limbs)\n", + " \n", + " \n", + " Intraretinal hyporeflective spaces on macular OCT\n", + " definition of HP:0030623 (Intraretinal hyporeflective spaces on macular OCT)\n", + " \n", + " \n", + " Central serous chorioretinopathy\n", + " definition of HP:0025567 (Central serous chorioretinopathy)\n", + " \n", + " \n", + " An anomaly of the retina with serous detachment of the neurosensory retina secondary to one or more focal lesions of the retinal pigment epithelium (RPE), and associated with blurred vision, usually in one eye only and perceived typically by the patient as a dark spot in the center of the visual field with associated micropsia and metamorphopsia. Normal vision often recurs spontaneously within a few months.\n", + " definition of HP:0025567 (Central serous chorioretinopathy)\n", + " \n", + " \n", + " EEG with temporal focal spikes\n", + " definition of HP:0012018 (EEG with temporal focal spikes)\n", + " \n", + " \n", + " EEG with focal sharp transient waves of a duration less than 80 msec in the temporal region.\n", + " definition of HP:0012018 (EEG with temporal focal spikes)\n", + " \n", + " \n", + " Anterior pyramidal cataract\n", + " definition of HP:0010697 (Anterior pyramidal cataract)\n", + " \n", + " \n", + " A type of anterior polar cataract which projects as a conical opacity into the anterior chamber.\n", + " definition of HP:0010697 (Anterior pyramidal cataract)\n", + " \n", + " \n", + " Cortical nephrocalcinosis\n", + " definition of HP:0012409 (Cortical nephrocalcinosis)\n", + " \n", + " \n", + " The deposition of calcium salts in the parenchyma of the renal cortex (the outer portion of the kidney between the renal capsule and the renal medulla).\n", + " definition of HP:0012409 (Cortical nephrocalcinosis)\n", + " \n", + " \n", + " Trapezoidal vertebral body\n", + " definition of HP:0005621 (Trapezoidal vertebral body)\n", + " \n", + " \n", + " An anomalous trapezoidal appearance of a vertebral body. A trapezoid is a four-sided shape that has two sides that are parallel and two sides that are not parallel. In this case, the two lateral sides of the vertebra are parallel, and the top and the bottom are slanted with respect to each other such that the vertebra is shorter in the front or back than on the other side.\n", + " definition of HP:0005621 (Trapezoidal vertebral body)\n", + " \n", + " \n", + " #Trapezoidal shaped vertebral bodies #Trapezoidal vertebral bodies\n", + " definition of HP:0005621 (Trapezoidal vertebral body)\n", + " \n", + " \n", + " Cone-shaped epiphysis of the proximal phalanx of the 5th toe\n", + " definition of HP:0100226 (Cone-shaped epiphysis of the proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " #Cone-shaped end part of the innermost bone of the little toe #Cone-shaped end part of the innermost bone of the pinkie toe #Cone-shaped end part of the innermost bone of the pinky toe\n", + " definition of HP:0100226 (Cone-shaped epiphysis of the proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " Drooling\n", + " definition of HP:0002307 (Drooling)\n", + " \n", + " \n", + " Habitual flow of saliva out of the mouth.\n", + " definition of HP:0002307 (Drooling)\n", + " \n", + " \n", + " #Dribbling #Drooling #Sialorrhea\n", + " definition of HP:0002307 (Drooling)\n", + " \n", + " \n", + " Abnormality of fundus pigmentation\n", + " definition of HP:0031605 (Abnormality of fundus pigmentation)\n", + " \n", + " \n", + " Any anomaly of the pigmentation of the fundus, the posterior part of the eye including the retina and optic nerve.\n", + " definition of HP:0031605 (Abnormality of fundus pigmentation)\n", + " \n", + " \n", + " Myocardial late gadolinium enhancement\n", + " definition of HP:4000004 (Myocardial late gadolinium enhancement)\n", + " \n", + " \n", + " Areas of high signal intensity in magnetic resonance imaging of the heart appearing 10 to 15 minutes after injection of the intercellular contrast agent gadolinium.\n", + " definition of HP:4000004 (Myocardial late gadolinium enhancement)\n", + " \n", + " \n", + " #Delayed myocardial gadolinium enhancement\n", + " definition of HP:4000004 (Myocardial late gadolinium enhancement)\n", + " \n", + " \n", + " Increased esterified to free carnitine ratio\n", + " definition of HP:0033506 (Increased esterified to free carnitine ratio)\n", + " \n", + " \n", + " An elevated ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine.\n", + " definition of HP:0033506 (Increased esterified to free carnitine ratio)\n", + " \n", + " \n", + " Secondary growth hormone deficiency\n", + " definition of HP:0008240 (Secondary growth hormone deficiency)\n", + " \n", + " \n", + " History of vasectomy\n", + " definition of HP:0040410 (History of vasectomy)\n", + " \n", + " \n", + " A medical history of having undergone a vasectomy prior to the current presentation.\n", + " definition of HP:0040410 (History of vasectomy)\n", + " \n", + " \n", + " Infantile encephalopathy\n", + " definition of HP:0007105 (Infantile encephalopathy)\n", + " \n", + " \n", + " Encephalopathy with onset in the infantile period.\n", + " definition of HP:0007105 (Infantile encephalopathy)\n", + " \n", + " \n", + " Abnormality of the middle phalanx of the 3rd finger\n", + " definition of HP:0004172 (Abnormality of the middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Abnormal middle finger bone of the middle finger\n", + " definition of HP:0004172 (Abnormality of the middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " Thin proximal phalanges with broad epiphyses of the hand\n", + " definition of HP:0006213 (Thin proximal phalanges with broad epiphyses of the hand)\n", + " \n", + " \n", + " #Thin innermost bone with broad end part of the hand bone\n", + " definition of HP:0006213 (Thin proximal phalanges with broad epiphyses of the hand)\n", + " \n", + " \n", + " Increased red blood cell count\n", + " definition of HP:0020059 (Increased red blood cell count)\n", + " \n", + " \n", + " An abnormal elevation above the normal number of red blood cells per volume in the circulation.\n", + " definition of HP:0020059 (Increased red blood cell count)\n", + " \n", + " \n", + " #Increased RBC count\n", + " definition of HP:0020059 (Increased red blood cell count)\n", + " \n", + " \n", + " Reduced beta/alpha synthesis ratio\n", + " definition of HP:0011906 (Reduced beta/alpha synthesis ratio)\n", + " \n", + " \n", + " A reduction in the ratio of production of beta globin to that of alpha globin. This is the major abnormality in the various forms of beta thalassemia.\n", + " definition of HP:0011906 (Reduced beta/alpha synthesis ratio)\n", + " \n", + " \n", + " Lack of oocyte pronucleus formation\n", + " definition of HP:0034719 (Lack of oocyte pronucleus formation)\n", + " \n", + " \n", + " An abnormality of oocyte maturation characterized by the inability of oocytes to form pronuclei after in vitro fertilization procedures. Oocytes normally show two pronuclei 17 to 20 hours after in vitro insemination.\n", + " definition of HP:0034719 (Lack of oocyte pronucleus formation)\n", + " \n", + " \n", + " Mirror image hand polydactyly\n", + " definition of HP:0010690 (Mirror image hand polydactyly)\n", + " \n", + " \n", + " Mirror image duplication of digits affecting the hands only.\n", + " definition of HP:0010690 (Mirror image hand polydactyly)\n", + " \n", + " \n", + " #Mirror image duplication of fingers\n", + " definition of HP:0010690 (Mirror image hand polydactyly)\n", + " \n", + " \n", + " Loose anagen hair\n", + " definition of HP:0040169 (Loose anagen hair)\n", + " \n", + " \n", + " Elevated urinary dihydrouracil level\n", + " definition of HP:6000118 (Elevated urinary dihydrouracil level)\n", + " \n", + " \n", + " The amount of dihydrouracil in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000118 (Elevated urinary dihydrouracil level)\n", + " \n", + " \n", + " #Dihydrouracil high in urine\n", + " definition of HP:6000118 (Elevated urinary dihydrouracil level)\n", + " \n", + " \n", + " X-linked inheritance\n", + " definition of HP:0001417 (X-linked inheritance)\n", + " \n", + " \n", + " A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome.\n", + " definition of HP:0001417 (X-linked inheritance)\n", + " \n", + " \n", + " #monoallelic_X_hemizygous #X-linked\n", + " definition of HP:0001417 (X-linked inheritance)\n", + " \n", + " \n", + " Decreased circulating total IgG concentration\n", + " definition of HP:0032132 (Decreased circulating total IgG concentration)\n", + " \n", + " \n", + " A reduction beneath the normal level of total immunoglobulin G (IgG) in the blood.\n", + " definition of HP:0032132 (Decreased circulating total IgG concentration)\n", + " \n", + " \n", + " #Decreased circulating total IgG\n", + " definition of HP:0032132 (Decreased circulating total IgG concentration)\n", + " \n", + " \n", + " Adenocarcinoma of the intestines\n", + " definition of HP:0040273 (Adenocarcinoma of the intestines)\n", + " \n", + " \n", + " A malignant epithelial tumor with a glandular organization that originates in the intestines.\n", + " definition of HP:0040273 (Adenocarcinoma of the intestines)\n", + " \n", + " \n", + " Sclerosis of the middle phalanx of the 3rd toe\n", + " definition of HP:0100936 (Sclerosis of the middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " An elevation in bone density in the middle phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.\n", + " definition of HP:0100936 (Sclerosis of the middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Increased bone density in the middle bone of the 3rd toe\n", + " definition of HP:0100936 (Sclerosis of the middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " Abnormal circulating lipoprotein(a) concentration\n", + " definition of HP:0430148 (Abnormal circulating lipoprotein(a) concentration)\n", + " \n", + " \n", + " The concentration of lipoprotein(a) in the blood circulation is outside the limits of normal.\n", + " definition of HP:0430148 (Abnormal circulating lipoprotein(a) concentration)\n", + " \n", + " \n", + " Hypercalciuria\n", + " definition of HP:0002150 (Hypercalciuria)\n", + " \n", + " \n", + " #Elevated urine calcium levels #Hypercalcinuria\n", + " definition of HP:0002150 (Hypercalciuria)\n", + " \n", + " \n", + " Eyelid pain\n", + " definition of HP:0034808 (Eyelid pain)\n", + " \n", + " \n", + " An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eyelid.\n", + " definition of HP:0034808 (Eyelid pain)\n", + " \n", + " \n", + " Focal epithelial hyperplasia of oral mucosa\n", + " definition of HP:0410340 (Focal epithelial hyperplasia of oral mucosa)\n", + " \n", + " \n", + " The occurrence of multiple or unique whitish or normal in color small papules or nodules in oral cavity, especially on labial and buccal mucosa, lower lip and tongue, and less often on the upper lip, gingiva and palate.\n", + " definition of HP:0410340 (Focal epithelial hyperplasia of oral mucosa)\n", + " \n", + " \n", + " #Focal epithelial hyperplasia of the lining of mouth #Oral mucosa epithelial hyperplasia\n", + " definition of HP:0410340 (Focal epithelial hyperplasia of oral mucosa)\n", + " \n", + " \n", + " Right\n", + " definition of HP:0012834 (Right)\n", + " \n", + " \n", + " Being located on the right side of the body.\n", + " definition of HP:0012834 (Right)\n", + " \n", + " \n", + " #Right-sided\n", + " definition of HP:0012834 (Right)\n", + " \n", + " \n", + " Increased mean platelet volume\n", + " definition of HP:0011877 (Increased mean platelet volume)\n", + " \n", + " \n", + " Average platelet volume above the upper limit of the normal reference interval.\n", + " definition of HP:0011877 (Increased mean platelet volume)\n", + " \n", + " \n", + " #Large platelets\n", + " definition of HP:0011877 (Increased mean platelet volume)\n", + " \n", + " \n", + " Tooth agenesis\n", + " definition of HP:0009804 (Tooth agenesis)\n", + " \n", + " \n", + " The absence of one or more teeth from the normal series by a failure to develop\n", + " definition of HP:0009804 (Tooth agenesis)\n", + " \n", + " \n", + " #Decreased tooth count #Dental agenesis #Failure of development of some teeth #Reduced number of teeth #Teeth, agenesis\n", + " definition of HP:0009804 (Tooth agenesis)\n", + " \n", + " \n", + " Abnormality of lower limb joint\n", + " definition of HP:0100491 (Abnormality of lower limb joint)\n", + " \n", + " \n", + " #Abnormality of lower limb joint #Abnormality of the joints of the lower limbs\n", + " definition of HP:0100491 (Abnormality of lower limb joint)\n", + " \n", + " \n", + " Deep neck abscess\n", + " definition of HP:6000288 (Deep neck abscess)\n", + " \n", + " \n", + " An abscess (i.e., a circumscribed area of pus or necrotic debris) localized in the area surrounded by the deep fascia of the neck including the pharynx, larynx, trachea, upper esophagus, thyroid, and parathyroid glands. Infections of pharyngeal, tonsillar, and laryngeal origin affect this space, which includes the parapharyngeal and retropharyngeal spaces.\n", + " definition of HP:6000288 (Deep neck abscess)\n", + " \n", + " \n", + " Complete duplication of the phalanges of the 4th finger\n", + " definition of HP:0009973 (Complete duplication of the phalanges of the 4th finger)\n", + " \n", + " \n", + " A complete duplication affecting one or more of the phalanges of the 4th finger. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism.\n", + " definition of HP:0009973 (Complete duplication of the phalanges of the 4th finger)\n", + " \n", + " \n", + " #Complete duplication of the bones of the ring finger\n", + " definition of HP:0009973 (Complete duplication of the phalanges of the 4th finger)\n", + " \n", + " \n", + " Encephalomalacia\n", + " definition of HP:0040197 (Encephalomalacia)\n", + " \n", + " \n", + " Encephalomalacia is the softening or loss of brain tissue after cerebral infarction, cerebral ischemia, infection, craniocerebral trauma, or other injury.\n", + " definition of HP:0040197 (Encephalomalacia)\n", + " \n", + " \n", + " #Cerebral softening\n", + " definition of HP:0040197 (Encephalomalacia)\n", + " \n", + " \n", + " Gastroenteritis-related afebrile seizure\n", + " definition of HP:0032893 (Gastroenteritis-related afebrile seizure)\n", + " \n", + " \n", + " Afebrile (less than 38.0 degrees Celcius), brief, and generalized seizures accompanying gastroenteritis without an alternative cause.\n", + " definition of HP:0032893 (Gastroenteritis-related afebrile seizure)\n", + " \n", + " \n", + " Ribbonlike corneal degeneration\n", + " definition of HP:0200066 (Ribbonlike corneal degeneration)\n", + " \n", + " \n", + " Intrathoracic hemangioma\n", + " definition of HP:0410287 (Intrathoracic hemangioma)\n", + " \n", + " \n", + " A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the intrathoracic or chest region.\n", + " definition of HP:0410287 (Intrathoracic hemangioma)\n", + " \n", + " \n", + " #Chest hemangioma\n", + " definition of HP:0410287 (Intrathoracic hemangioma)\n", + " \n", + " \n", + " Reduced hepatic glyoxylate reductase activity\n", + " definition of HP:6000638 (Reduced hepatic glyoxylate reductase activity)\n", + " \n", + " \n", + " Activity of glyoxylate reductase/hydroxypyruvate reductase (GRHPR; EC 1.1.1.79) in liver below the lower limit of normal.\n", + " definition of HP:6000638 (Reduced hepatic glyoxylate reductase activity)\n", + " \n", + " \n", + " #Reduced hepatic hydroxypyruvate reductase activity\n", + " definition of HP:6000638 (Reduced hepatic glyoxylate reductase activity)\n", + " \n", + " \n", + " Pseudoepiphysis of the distal phalanx of the 4th finger\n", + " definition of HP:0009257 (Pseudoepiphysis of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " A secondary ossification center in the distal phalanx of the fourth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.\n", + " definition of HP:0009257 (Pseudoepiphysis of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " Valgus hand deformity\n", + " definition of HP:0006228 (Valgus hand deformity)\n", + " \n", + " \n", + " Monomorphic vesicular eruption\n", + " definition of HP:0033698 (Monomorphic vesicular eruption)\n", + " \n", + " \n", + " A type of vesicular eruption in which the vesicles are at same stages.\n", + " definition of HP:0033698 (Monomorphic vesicular eruption)\n", + " \n", + " \n", + " Chronic myelomonocytic leukemia\n", + " definition of HP:0012325 (Chronic myelomonocytic leukemia)\n", + " \n", + " \n", + " A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement.\n", + " definition of HP:0012325 (Chronic myelomonocytic leukemia)\n", + " \n", + " \n", + " #Chronic myelomonocytic leukaemia\n", + " definition of HP:0012325 (Chronic myelomonocytic leukemia)\n", + " \n", + " \n", + " Reduced CSF creatine concentration\n", + " definition of HP:6000400 (Reduced CSF creatine concentration)\n", + " \n", + " \n", + " The concentration of creatine in the cerebrospinal fluid (CSF) is below the lower limit of normal.\n", + " definition of HP:6000400 (Reduced CSF creatine concentration)\n", + " \n", + " \n", + " Akathisia\n", + " definition of HP:0031943 (Akathisia)\n", + " \n", + " \n", + " A state of motor restlessness, usually in the lower extremities, that is often but not always accompanied by a subjective sense of inner restlessness, an urge to move, and anxiety or dysphoria.\n", + " definition of HP:0031943 (Akathisia)\n", + " \n", + " \n", + " Inferior chorioretinal coloboma\n", + " definition of HP:0031613 (Inferior chorioretinal coloboma)\n", + " \n", + " \n", + " Absence of a region of the retina, retinal pigment epithelium, and choroid at the lower part of the fundus.\n", + " definition of HP:0031613 (Inferior chorioretinal coloboma)\n", + " \n", + " \n", + " Shovel-shaped maxillary central incisors\n", + " definition of HP:0006358 (Shovel-shaped maxillary central incisors)\n", + " \n", + " \n", + " A tooth with a crown with marked lingual or palatal marginal ridges causing scooped lingual or palatal surfaces.\n", + " definition of HP:0006358 (Shovel-shaped maxillary central incisors)\n", + " \n", + " \n", + " #Shovel tooth #Shovel-shaped upper front teeth\n", + " definition of HP:0006358 (Shovel-shaped maxillary central incisors)\n", + " \n", + " \n", + " Tracheomegaly\n", + " definition of HP:0010778 (Tracheomegaly)\n", + " \n", + " \n", + " Marked widening of the trachea.\n", + " definition of HP:0010778 (Tracheomegaly)\n", + " \n", + " \n", + " Abnormal ciliary motility\n", + " definition of HP:0012262 (Abnormal ciliary motility)\n", + " \n", + " \n", + " Any anomaly of the normal motility of motile cilia. Evaluation of ciliary beat frequency and ciliary beat pattern requires high-speed videomicroscopy of freshly obtained ciliary biopsies that are maintained in culture media under controlled conditions.\n", + " definition of HP:0012262 (Abnormal ciliary motility)\n", + " \n", + " \n", + " Cortical radial artery intima/media necrosis\n", + " definition of HP:0033935 (Cortical radial artery intima/media necrosis)\n", + " \n", + " \n", + " Cell death (necrosis) in the inner or middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney.\n", + " definition of HP:0033935 (Cortical radial artery intima/media necrosis)\n", + " \n", + " \n", + " #Necrosis within interlobular arterial intima/media\n", + " definition of HP:0033935 (Cortical radial artery intima/media necrosis)\n", + " \n", + " \n", + " Scattered lymph node individual epithelioid histiocytes\n", + " definition of HP:0020240 (Scattered lymph node individual epithelioid histiocytes)\n", + " \n", + " \n", + " Many individual (not clustered) epithelioid histiocytes throughout at least part of a lymph node.\n", + " definition of HP:0020240 (Scattered lymph node individual epithelioid histiocytes)\n", + " \n", + " \n", + " Laterally extended eyebrow\n", + " definition of HP:0011230 (Laterally extended eyebrow)\n", + " \n", + " \n", + " An eyebrow that extends laterally beyond the orbital rim rather than turning gently downward at that location.\n", + " definition of HP:0011230 (Laterally extended eyebrow)\n", + " \n", + " \n", + " #Increased lateral length of eyebrow #Laterally elongated eyebrow #Laterally extended eyebrows\n", + " definition of HP:0011230 (Laterally extended eyebrow)\n", + " \n", + " \n", + " Abnormal urinary 3-methylhistidine level\n", + " definition of HP:0410316 (Abnormal urinary 3-methylhistidine level)\n", + " \n", + " \n", + " Abnormal amount of 3-methylhistidine in the urine.\n", + " definition of HP:0410316 (Abnormal urinary 3-methylhistidine level)\n", + " \n", + " \n", + " Loss of glomerular endothelial cell fenestration\n", + " definition of HP:0033273 (Loss of glomerular endothelial cell fenestration)\n", + " \n", + " \n", + " Loss of round to oval discontinuities normally present in the glomerular capillary endothelial cell cytoplasm.\n", + " definition of HP:0033273 (Loss of glomerular endothelial cell fenestration)\n", + " \n", + " \n", + " Reduced muscle phosphoglycerate mutase activity\n", + " definition of HP:6000197 (Reduced muscle phosphoglycerate mutase activity)\n", + " \n", + " \n", + " Activity of the enzyme Phosphoglycerate mutase (PGM) in muscle tissue is below the lower limit of normal. PGM is an enzyme that catalyzes step 8 of glycolysis (EC 5.4.2.11).\n", + " definition of HP:6000197 (Reduced muscle phosphoglycerate mutase activity)\n", + " \n", + " \n", + " Reduced aromatase activity\n", + " definition of HP:0034700 (Reduced aromatase activity)\n", + " \n", + " \n", + " Enzyme activity of aromatase below the lower limit of normal.\n", + " definition of HP:0034700 (Reduced aromatase activity)\n", + " \n", + " \n", + " Somatic sensory dysfunction\n", + " definition of HP:0003474 (Somatic sensory dysfunction)\n", + " \n", + " \n", + " An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing.\n", + " definition of HP:0003474 (Somatic sensory dysfunction)\n", + " \n", + " \n", + " #Sensory impairment\n", + " definition of HP:0003474 (Somatic sensory dysfunction)\n", + " \n", + " \n", + " Retinal edema\n", + " definition of HP:0031527 (Retinal edema)\n", + " \n", + " \n", + " Accumulation of fluid within the layers of the retina not limited to the macular region.\n", + " definition of HP:0031527 (Retinal edema)\n", + " \n", + " \n", + " #Intra-retinal fluid #Intraretinal fluid\n", + " definition of HP:0031527 (Retinal edema)\n", + " \n", + " \n", + " Platonychia\n", + " definition of HP:0030803 (Platonychia)\n", + " \n", + " \n", + " Abnormal flat nail.\n", + " definition of HP:0030803 (Platonychia)\n", + " \n", + " \n", + " Abnormal Langerhans cell morphology\n", + " definition of HP:0031871 (Abnormal Langerhans cell morphology)\n", + " \n", + " \n", + " Any functional anomaly of Langerhans cells, which are dendritic cells in the epidermis and some other locations. Langerhans cells play roles in immune surveillance and homeostasis.\n", + " definition of HP:0031871 (Abnormal Langerhans cell morphology)\n", + " \n", + " \n", + " Positive norpropoxyphene blood test\n", + " definition of HP:0410284 (Positive norpropoxyphene blood test)\n", + " \n", + " \n", + " Detection of norpropoxyphene in the blood, a major metabolite of the opioid analgesic drug dextropropoxyphene.\n", + " definition of HP:0410284 (Positive norpropoxyphene blood test)\n", + " \n", + " \n", + " Chronic partially decreased circulating IgG1\n", + " definition of HP:0041070 (Chronic partially decreased circulating IgG1)\n", + " \n", + " \n", + " A lasting limited decrease of immunoglobulin G1 (IgG1) in the blood.\n", + " definition of HP:0041070 (Chronic partially decreased circulating IgG1)\n", + " \n", + " \n", + " #Chronic partially decreased IgG1 in blood\n", + " definition of HP:0041070 (Chronic partially decreased circulating IgG1)\n", + " \n", + " \n", + " Metaphyseal chondromatosis of femur\n", + " definition of HP:0030295 (Metaphyseal chondromatosis of femur)\n", + " \n", + " \n", + " Impaired annexin V binding to platelet phosphatidylserine\n", + " definition of HP:0031132 (Impaired annexin V binding to platelet phosphatidylserine)\n", + " \n", + " \n", + " Reduced binding of annexin V to platelet membrane, which is mediated by exposed phosphatidylserine. This can be measured by flow cytometry.\n", + " definition of HP:0031132 (Impaired annexin V binding to platelet phosphatidylserine)\n", + " \n", + " \n", + " Cerebral calcification\n", + " definition of HP:0002514 (Cerebral calcification)\n", + " \n", + " \n", + " The presence of calcium deposition within the cerebrum.\n", + " definition of HP:0002514 (Cerebral calcification)\n", + " \n", + " \n", + " #Abnormal deposits of calcium in the brain\n", + " definition of HP:0002514 (Cerebral calcification)\n", + " \n", + " \n", + " Nevus anemicus\n", + " definition of HP:0025105 (Nevus anemicus)\n", + " \n", + " \n", + " A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anemic spots.\n", + " definition of HP:0025105 (Nevus anemicus)\n", + " \n", + " \n", + " #Naevus anaemicus\n", + " definition of HP:0025105 (Nevus anemicus)\n", + " \n", + " \n", + " Patent ductus arteriosus\n", + " definition of HP:0001643 (Patent ductus arteriosus)\n", + " \n", + " \n", + " In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.\n", + " definition of HP:0001643 (Patent ductus arteriosus)\n", + " \n", + " \n", + " #Ductus arteriosus #Patent ductus Botalli #PDA #Persistent arterial duct #Persistent ductus arteriosus\n", + " definition of HP:0001643 (Patent ductus arteriosus)\n", + " \n", + " \n", + " Thyroid crisis\n", + " definition of HP:0011782 (Thyroid crisis)\n", + " \n", + " \n", + " Sudden episodic apnea\n", + " definition of HP:0002882 (Sudden episodic apnea)\n", + " \n", + " \n", + " Recurrent bouts of sudden, severe apnea that may be life-threatening.\n", + " definition of HP:0002882 (Sudden episodic apnea)\n", + " \n", + " \n", + " Broad distal phalanx of the 5th toe\n", + " definition of HP:0100433 (Broad distal phalanx of the 5th toe)\n", + " \n", + " \n", + " #Broad outermost bone of the 5th toe #Wide outermost bone of the little toe #Wide outermost bone of the pinkie toe #Wide outermost bone of the pinky toe\n", + " definition of HP:0100433 (Broad distal phalanx of the 5th toe)\n", + " \n", + " \n", + " Abnormal ureter morphology\n", + " definition of HP:0025633 (Abnormal ureter morphology)\n", + " \n", + " \n", + " A structural abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder.\n", + " definition of HP:0025633 (Abnormal ureter morphology)\n", + " \n", + " \n", + " Anti-vinculin antibody positivity\n", + " definition of HP:6000645 (Anti-vinculin antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against vinculin.\n", + " definition of HP:6000645 (Anti-vinculin antibody positivity)\n", + " \n", + " \n", + " Abnormal morphology of the proximal phalanx of the hallux\n", + " definition of HP:0010052 (Abnormal morphology of the proximal phalanx of the hallux)\n", + " \n", + " \n", + " An abnormal shape or form of the proximal phalanx of the big toe.\n", + " definition of HP:0010052 (Abnormal morphology of the proximal phalanx of the hallux)\n", + " \n", + " \n", + " #Abnormal innermost big toe bone #Abnormality of the proximal phalanx of the hallux\n", + " definition of HP:0010052 (Abnormal morphology of the proximal phalanx of the hallux)\n", + " \n", + " \n", + " Sterile pyuria\n", + " definition of HP:0100586 (Sterile pyuria)\n", + " \n", + " \n", + " Patients who routinely have greater than 20 leukocytes per microliter, but have abacterial urine, are said to have sterile pyuria.\n", + " definition of HP:0100586 (Sterile pyuria)\n", + " \n", + " \n", + " #Aseptic leukocyturia\n", + " definition of HP:0100586 (Sterile pyuria)\n", + " \n", + " \n", + " Secondary hyperaldosteronism\n", + " definition of HP:0011741 (Secondary hyperaldosteronism)\n", + " \n", + " \n", + " A form of hyperaldosteronism caused by abnormally increased renin levels.\n", + " definition of HP:0011741 (Secondary hyperaldosteronism)\n", + " \n", + " \n", + " #Hyperreninemic hyperaldosteronism\n", + " definition of HP:0011741 (Secondary hyperaldosteronism)\n", + " \n", + " \n", + " Increased urinary 8-oxo-7,8-dihydroguanosine level\n", + " definition of HP:0033984 (Increased urinary 8-oxo-7,8-dihydroguanosine level)\n", + " \n", + " \n", + " An elevated amount of 8-oxo-7,8-dihydroguanosine in the urine.\n", + " definition of HP:0033984 (Increased urinary 8-oxo-7,8-dihydroguanosine level)\n", + " \n", + " \n", + " #Increased urinary 8-oxo-7,8-dihydroguanosine #Increased urinary 8-oxo-Gsn level #Increased urine 8-oxo-7,8-dihydroguanosine #Increased urine 8-oxo-GMP\n", + " definition of HP:0033984 (Increased urinary 8-oxo-7,8-dihydroguanosine level)\n", + " \n", + " \n", + " Mediosternal, longitudinal streak of hypopigmentation\n", + " definition of HP:0007581 (Mediosternal, longitudinal streak of hypopigmentation)\n", + " \n", + " \n", + " Loss of consciousness\n", + " definition of HP:0007185 (Loss of consciousness)\n", + " \n", + " \n", + " Loss of alertness and orientation to place and time.\n", + " definition of HP:0007185 (Loss of consciousness)\n", + " \n", + " \n", + " #Fainting #Loss of consciousness #Passing out\n", + " definition of HP:0007185 (Loss of consciousness)\n", + " \n", + " \n", + " Insulinoma\n", + " definition of HP:0012197 (Insulinoma)\n", + " \n", + " \n", + " A type of tumor of the pancreatic beta cells that secretes excess insulin and can result in hypoglycemia.\n", + " definition of HP:0012197 (Insulinoma)\n", + " \n", + " \n", + " #Pancreatic insulinoma\n", + " definition of HP:0012197 (Insulinoma)\n", + " \n", + " \n", + " Flattening of the talar dome\n", + " definition of HP:0008144 (Flattening of the talar dome)\n", + " \n", + " \n", + " Mitral atresia\n", + " definition of HP:0011560 (Mitral atresia)\n", + " \n", + " \n", + " A congenital defect with failure to open of the mitral valve orifice.\n", + " definition of HP:0011560 (Mitral atresia)\n", + " \n", + " \n", + " #Mitral valve atresia\n", + " definition of HP:0011560 (Mitral atresia)\n", + " \n", + " \n", + " Hypotonia\n", + " definition of HP:0001252 (Hypotonia)\n", + " \n", + " \n", + " Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.\n", + " definition of HP:0001252 (Hypotonia)\n", + " \n", + " \n", + " #Low muscle tone #Low or weak muscle tone #Muscle hypotonia #Muscular hypotonia\n", + " definition of HP:0001252 (Hypotonia)\n", + " \n", + " \n", + " Brain stem compression\n", + " definition of HP:0002512 (Brain stem compression)\n", + " \n", + " \n", + " Reduced muscle alpha-1,4-glucosidase activity\n", + " definition of HP:6000088 (Reduced muscle alpha-1,4-glucosidase activity)\n", + " \n", + " \n", + " Activity of the enzyme alpha-1,4-glucosidase activity in muscle tissue is below the lower limit of normal.\n", + " definition of HP:6000088 (Reduced muscle alpha-1,4-glucosidase activity)\n", + " \n", + " \n", + " Abnormal ST segment\n", + " definition of HP:0012249 (Abnormal ST segment)\n", + " \n", + " \n", + " An electrocardiographic anomaly of the ST segment, which is the segment that connects the QRS complex and the T wave. The ST segment normally has a duration of 80 to 120 ms, is flat and at the same level (isoelectric) as the PR and TP segment.\n", + " definition of HP:0012249 (Abnormal ST segment)\n", + " \n", + " \n", + " Abnormality of the musculoskeletal system\n", + " definition of HP:0033127 (Abnormality of the musculoskeletal system)\n", + " \n", + " \n", + " An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body.\n", + " definition of HP:0033127 (Abnormality of the musculoskeletal system)\n", + " \n", + " \n", + " Spurred radial metaphysis\n", + " definition of HP:0004025 (Spurred radial metaphysis)\n", + " \n", + " \n", + " Absence of alpha granules\n", + " definition of HP:0012526 (Absence of alpha granules)\n", + " \n", + " \n", + " A lack of platelet alpha granules. This typically results in the gray appearance of platelets in giemsa stained blood smears.\n", + " definition of HP:0012526 (Absence of alpha granules)\n", + " \n", + " \n", + " #Gray platelets #Grey platelets\n", + " definition of HP:0012526 (Absence of alpha granules)\n", + " \n", + " \n", + " Localized soft-tissue swelling on extremity\n", + " definition of HP:6000840 (Localized soft-tissue swelling on extremity)\n", + " \n", + " \n", + " Abnormal enlargement (swelling) that is restricted to a specific part of a limb.\n", + " definition of HP:6000840 (Localized soft-tissue swelling on extremity)\n", + " \n", + " \n", + " Triggered by cold\n", + " definition of HP:0025206 (Triggered by cold)\n", + " \n", + " \n", + " Applies to a sign or symptom that is provoked or brought about by exposure to cold surroundings.\n", + " definition of HP:0025206 (Triggered by cold)\n", + " \n", + " \n", + " #Cold triggered symptoms #Triggered by cold temperature\n", + " definition of HP:0025206 (Triggered by cold)\n", + " \n", + " \n", + " Abnormality of the distal phalanx of the 4th toe\n", + " definition of HP:0010380 (Abnormality of the distal phalanx of the 4th toe)\n", + " \n", + " \n", + " #Abnormality of the outermost 4th toe bone\n", + " definition of HP:0010380 (Abnormality of the distal phalanx of the 4th toe)\n", + " \n", + " \n", + " Esophageal ulceration\n", + " definition of HP:0004791 (Esophageal ulceration)\n", + " \n", + " \n", + " Defect in the epithelium of the esophagus, essentially an open sore in the lining of the esophagus.\n", + " definition of HP:0004791 (Esophageal ulceration)\n", + " \n", + " \n", + " #Esophagus ulcer #Oesophagus ulcer #Oesophagus ulceration\n", + " definition of HP:0004791 (Esophageal ulceration)\n", + " \n", + " \n", + " PAS-positive lymphocyte vacuolization\n", + " definition of HP:6000639 (PAS-positive lymphocyte vacuolization)\n", + " \n", + " \n", + " Presence of lymphocytes with positive staining for periodic acid-Schiff (PAS) cytoplasmic vacuoles.\n", + " definition of HP:6000639 (PAS-positive lymphocyte vacuolization)\n", + " \n", + " \n", + " Salt craving\n", + " definition of HP:0030083 (Salt craving)\n", + " \n", + " \n", + " Hypersalivation, also known as salt craving, refers to an excessive desire to consume salt (sodium chloride) or salty foods.\n", + " definition of HP:0030083 (Salt craving)\n", + " \n", + " \n", + " #Salt craving\n", + " definition of HP:0030083 (Salt craving)\n", + " \n", + " \n", + " Midline notching of lower lip\n", + " definition of HP:6000569 (Midline notching of lower lip)\n", + " \n", + " \n", + " Exaggerated indentation at the very middle (midline) of the lower lip.\n", + " definition of HP:6000569 (Midline notching of lower lip)\n", + " \n", + " \n", + " Abnormal facial skeleton morphology\n", + " definition of HP:0011821 (Abnormal facial skeleton morphology)\n", + " \n", + " \n", + " An abnormality of one or more of the set of bones that make up the facial skeleton.\n", + " definition of HP:0011821 (Abnormal facial skeleton morphology)\n", + " \n", + " \n", + " #Abnormality of facial skeleton #Anomaly of facial skeleton\n", + " definition of HP:0011821 (Abnormal facial skeleton morphology)\n", + " \n", + " \n", + " Intermittent painful muscle spasms\n", + " definition of HP:0011964 (Intermittent painful muscle spasms)\n", + " \n", + " \n", + " History of repeated intermittent involuntary muscle contractions that were painful.\n", + " definition of HP:0011964 (Intermittent painful muscle spasms)\n", + " \n", + " \n", + " Fetal fluorouracil exposure\n", + " definition of HP:0034846 (Fetal fluorouracil exposure)\n", + " \n", + " \n", + " A history of exposure during pregnancy of the mother of a fetus or child to fluorouracil.\n", + " definition of HP:0034846 (Fetal fluorouracil exposure)\n", + " \n", + " \n", + " #Fluorouracil exposure during gestation #Maternal fluorouracil exposure\n", + " definition of HP:0034846 (Fetal fluorouracil exposure)\n", + " \n", + " \n", + " Elevated circulating suberic acid concentration\n", + " definition of HP:0033177 (Elevated circulating suberic acid concentration)\n", + " \n", + " \n", + " An increased concentration of suberic acid in the blood circulation. Suberic acid is an alpha,omega-dicarboxylic acid that is the 1,6-dicarboxy derivative of hexane.\n", + " definition of HP:0033177 (Elevated circulating suberic acid concentration)\n", + " \n", + " \n", + " Abnormal four chamber view of the fetal heart\n", + " definition of HP:4000105 (Abnormal four chamber view of the fetal heart)\n", + " \n", + " \n", + " The four-chamber (4Ch) view of the fetal heart is the most widely used screening examination for the detection of structural cardiac abnormalities during routine fetal ultrasonography. In the healthy normal fetus, the apical 4Ch view demonstrates four well-developed chambers, a concordant atrioventricular (AV) connection, unobstructed AV valves (mitral and tricuspid valves), the foramen ovale flap opening into left atrium (LA), and an intact interventricular septum. Additionally, the pulmonary venous opening can be visualized at the LA wall. Any structural deviations from normal anatomy may lead to congenital heart disease that can be determined by the 4Ch view of the fetal heart's ultrasound imaging.\n", + " definition of HP:4000105 (Abnormal four chamber view of the fetal heart)\n", + " \n", + " \n", + " #Abnormal four chamber view\n", + " definition of HP:4000105 (Abnormal four chamber view of the fetal heart)\n", + " \n", + " \n", + " Stippling of the epiphyses of the distal phalanges of the hand\n", + " definition of HP:0010255 (Stippling of the epiphyses of the distal phalanges of the hand)\n", + " \n", + " \n", + " #Speckled calcifications in the end part of the outermost hand bones\n", + " definition of HP:0010255 (Stippling of the epiphyses of the distal phalanges of the hand)\n", + " \n", + " \n", + " Cortical thinning of foot bones\n", + " definition of HP:0025333 (Cortical thinning of foot bones)\n", + " \n", + " \n", + " A reduction in the thickness of the outer shell (cortex) of foot bones.\n", + " definition of HP:0025333 (Cortical thinning of foot bones)\n", + " \n", + " \n", + " Urethrovesical occlusion\n", + " definition of HP:0034378 (Urethrovesical occlusion)\n", + " \n", + " \n", + " Blockage of the flow of urine from the bladder into the urethra.\n", + " definition of HP:0034378 (Urethrovesical occlusion)\n", + " \n", + " \n", + " Abnormality of adrenal physiology\n", + " definition of HP:0011733 (Abnormality of adrenal physiology)\n", + " \n", + " \n", + " A functional abnormality of the adrenal glands.\n", + " definition of HP:0011733 (Abnormality of adrenal physiology)\n", + " \n", + " \n", + " Renal transitional cell carcinoma\n", + " definition of HP:0030409 (Renal transitional cell carcinoma)\n", + " \n", + " \n", + " A malignant tumor that arises from the transitional (urothelial) epithelial cells lining the urinary tract from the renal calyces to the ureteral orifice.\n", + " definition of HP:0030409 (Renal transitional cell carcinoma)\n", + " \n", + " \n", + " #renal TCC #Renal urothelial carcinoma #Transitional renal cell carcinoma\n", + " definition of HP:0030409 (Renal transitional cell carcinoma)\n", + " \n", + " \n", + " Positive CSF nucleic acid pathogen test\n", + " definition of HP:0430140 (Positive CSF nucleic acid pathogen test)\n", + " \n", + " \n", + " Positive (abnormal) result of a cerebrospinal fluid (CSF) test such as polymerase chain reaction that is targeted against a nucleic acid sequence specific for a pathogen.\n", + " definition of HP:0430140 (Positive CSF nucleic acid pathogen test)\n", + " \n", + " \n", + " Blue sclerae\n", + " definition of HP:0000592 (Blue sclerae)\n", + " \n", + " \n", + " An abnormal bluish coloration of the sclera.\n", + " definition of HP:0000592 (Blue sclerae)\n", + " \n", + " \n", + " #Blue sclera #Bluish sclerae #Gray sclerae #Grey sclerae #Whites of eyes are a bluish-gray color #Whites of eyes are a bluish-gray colour\n", + " definition of HP:0000592 (Blue sclerae)\n", + " \n", + " \n", + " Abnormal 5th metacarpal morphology\n", + " definition of HP:0010013 (Abnormal 5th metacarpal morphology)\n", + " \n", + " \n", + " Any abnormality of the fifth metacarpal bone.\n", + " definition of HP:0010013 (Abnormal 5th metacarpal morphology)\n", + " \n", + " \n", + " #Abnormality of the 5th long bone of hand #Abnormality of the 5th metacarpal\n", + " definition of HP:0010013 (Abnormal 5th metacarpal morphology)\n", + " \n", + " \n", + " Polypoidal choroidal vasculopathy\n", + " definition of HP:0025569 (Polypoidal choroidal vasculopathy)\n", + " \n", + " \n", + " The presence of aneurysmal polypoidal lesions in the choroidal vasculature. The aneurysmal dilatations, also known as polyps, may be found at subfoveal, juxtafoveal, extrafoveal, peripapillary or even peripheral regions. These polypoidal dilatations may be visible as reddish-orange subretinal nodules during ophthalmoscopic examination. The polypoidal lesions are best detected on indocyanine green angiography (ICGA) and might be associated with a branching vascular network (BVN) of neovascularization.\n", + " definition of HP:0025569 (Polypoidal choroidal vasculopathy)\n", + " \n", + " \n", + " Clostridium difficile enteritis\n", + " definition of HP:0032167 (Clostridium difficile enteritis)\n", + " \n", + " \n", + " An infection of the small intestine (enteritis) by clostridium difficile.\n", + " definition of HP:0032167 (Clostridium difficile enteritis)\n", + " \n", + " \n", + " #C. difficile enteritis\n", + " definition of HP:0032167 (Clostridium difficile enteritis)\n", + " \n", + " \n", + " Hepatocellular adenoma\n", + " definition of HP:0012028 (Hepatocellular adenoma)\n", + " \n", + " \n", + " A benign tumor of the liver of presumably epithelial origin.\n", + " definition of HP:0012028 (Hepatocellular adenoma)\n", + " \n", + " \n", + " #Hepatic adenoma #Liver cell adenoma\n", + " definition of HP:0012028 (Hepatocellular adenoma)\n", + " \n", + " \n", + " Pulmonary edema\n", + " definition of HP:0100598 (Pulmonary edema)\n", + " \n", + " \n", + " Fluid accumulation in the lungs.\n", + " definition of HP:0100598 (Pulmonary edema)\n", + " \n", + " \n", + " #Excess fluid in lungs #Lung edema #Lung oedema #Pulmonary edema #Wet lung\n", + " definition of HP:0100598 (Pulmonary edema)\n", + " \n", + " \n", + " Hypoplasia of the calcaneus\n", + " definition of HP:0012789 (Hypoplasia of the calcaneus)\n", + " \n", + " \n", + " Underdevelopment of the heel bone.\n", + " definition of HP:0012789 (Hypoplasia of the calcaneus)\n", + " \n", + " \n", + " #Hypoplastic calcaneus #Small heel bone #Underdeveloped heel bone\n", + " definition of HP:0012789 (Hypoplasia of the calcaneus)\n", + " \n", + " \n", + " Positive blood barbiturate test\n", + " definition of HP:0500116 (Positive blood barbiturate test)\n", + " \n", + " \n", + " Detection of barbiturate metabolites such as Phenobarbital in blood.\n", + " definition of HP:0500116 (Positive blood barbiturate test)\n", + " \n", + " \n", + " Abnormality of the plantar skin of foot\n", + " definition of HP:0100872 (Abnormality of the plantar skin of foot)\n", + " \n", + " \n", + " An abnormality of the plantar part of foot, that is of the soles of the feet.\n", + " definition of HP:0100872 (Abnormality of the plantar skin of foot)\n", + " \n", + " \n", + " #Minor feet anomalies\n", + " definition of HP:0100872 (Abnormality of the plantar skin of foot)\n", + " \n", + " \n", + " Hypertrophy of skin of soles\n", + " definition of HP:0007403 (Hypertrophy of skin of soles)\n", + " \n", + " \n", + " #Thick skin of soles\n", + " definition of HP:0007403 (Hypertrophy of skin of soles)\n", + " \n", + " \n", + " Abnormality of the pulmonary vasculature\n", + " definition of HP:0004930 (Abnormality of the pulmonary vasculature)\n", + " \n", + " \n", + " #Abnormality of the lung blood vessels\n", + " definition of HP:0004930 (Abnormality of the pulmonary vasculature)\n", + " \n", + " \n", + " Propionyl-CoA carboxylase deficiency\n", + " definition of HP:0003353 (Propionyl-CoA carboxylase deficiency)\n", + " \n", + " \n", + " An abnormality of amino acid metabolism characterized by a decreased level of propionyl-CoA carboxylase.\n", + " definition of HP:0003353 (Propionyl-CoA carboxylase deficiency)\n", + " \n", + " \n", + " Aplasia of the ovary\n", + " definition of HP:0010463 (Aplasia of the ovary)\n", + " \n", + " \n", + " Aplasia, that is failure to develop, of the ovary.\n", + " definition of HP:0010463 (Aplasia of the ovary)\n", + " \n", + " \n", + " #Absent ovary\n", + " definition of HP:0010463 (Aplasia of the ovary)\n", + " \n", + " \n", + " Biospecimen phenotypic feature\n", + " definition of HP:0020228 (Biospecimen phenotypic feature)\n", + " \n", + " \n", + " A phenotypic abnormality obvserved in a biospecimen such as a biopsy or an extirpated tumor or tissue.\n", + " definition of HP:0020228 (Biospecimen phenotypic feature)\n", + " \n", + " \n", + " Peripheral retinal detachment\n", + " definition of HP:0007929 (Peripheral retinal detachment)\n", + " \n", + " \n", + " Separation of the inner layers of the retina (neural retina) from the pigment epithelium occurring near the outer limit (periphery) of the retina.\n", + " definition of HP:0007929 (Peripheral retinal detachment)\n", + " \n", + " \n", + " Agenesis of canine\n", + " definition of HP:0012738 (Agenesis of canine)\n", + " \n", + " \n", + " Agenesis of canine tooth.\n", + " definition of HP:0012738 (Agenesis of canine)\n", + " \n", + " \n", + " #Absent canines #Failure of development of canine #Failure of development of eye tooth\n", + " definition of HP:0012738 (Agenesis of canine)\n", + " \n", + " \n", + " Abnormal radial ray morphology\n", + " definition of HP:0410049 (Abnormal radial ray morphology)\n", + " \n", + " \n", + " #Abnormality of radial ray #Deformity of radial ray #Radial ray abnormality #Radial ray anomaly #Radial ray deformity\n", + " definition of HP:0410049 (Abnormal radial ray morphology)\n", + " \n", + " \n", + " Anti-alanyl-tRNA synthetase antibody positivity\n", + " definition of HP:0034145 (Anti-alanyl-tRNA synthetase antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against alanyl-tRNA synthetase.\n", + " definition of HP:0034145 (Anti-alanyl-tRNA synthetase antibody positivity)\n", + " \n", + " \n", + " #Anti-PL-12 antibody positivity\n", + " definition of HP:0034145 (Anti-alanyl-tRNA synthetase antibody positivity)\n", + " \n", + " \n", + " Increased CSF interferon alpha\n", + " definition of HP:0009709 (Increased CSF interferon alpha)\n", + " \n", + " \n", + " Increased concentration of interferon alpha in the cerebrospinal fluid (CSF).\n", + " definition of HP:0009709 (Increased CSF interferon alpha)\n", + " \n", + " \n", + " Amelia involving the upper limbs\n", + " definition of HP:0009812 (Amelia involving the upper limbs)\n", + " \n", + " \n", + " Amelia of one or both upper limbs.\n", + " definition of HP:0009812 (Amelia involving the upper limbs)\n", + " \n", + " \n", + " Aortic valve stenosis\n", + " definition of HP:0001650 (Aortic valve stenosis)\n", + " \n", + " \n", + " The presence of a stenosis (narrowing) of the aortic valve.\n", + " definition of HP:0001650 (Aortic valve stenosis)\n", + " \n", + " \n", + " #Aortic stenosis #Narrowing of aortic valve #Valvular aortic stenosis\n", + " definition of HP:0001650 (Aortic valve stenosis)\n", + " \n", + " \n", + " Orthokeratosis\n", + " definition of HP:0040162 (Orthokeratosis)\n", + " \n", + " \n", + " Formation of an anuclear keratin layer\n", + " definition of HP:0040162 (Orthokeratosis)\n", + " \n", + " \n", + " Decreased circulating metanephrine concentration\n", + " definition of HP:0034878 (Decreased circulating metanephrine concentration)\n", + " \n", + " \n", + " Concentration of metanephrin in the blood circulation below the lower limit of normal.\n", + " definition of HP:0034878 (Decreased circulating metanephrine concentration)\n", + " \n", + " \n", + " Elevated circulating thymidine concentration\n", + " definition of HP:0034276 (Elevated circulating thymidine concentration)\n", + " \n", + " \n", + " Concentration of thymidine in the blood circulation above the normal range.\n", + " definition of HP:0034276 (Elevated circulating thymidine concentration)\n", + " \n", + " \n", + " #Increased serum thymidine\n", + " definition of HP:0034276 (Elevated circulating thymidine concentration)\n", + " \n", + " \n", + " Impaired renal tubular reabsorption of glucose\n", + " definition of HP:0034357 (Impaired renal tubular reabsorption of glucose)\n", + " \n", + " \n", + " Increased fractional excretion (FE) of glucose in the urine. The FE of glucose is the percentage of the glucose filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine glucose, rather than by the interpretation of urinary glucose concentration alone, as urinary glucose concentrations can vary with water reabsorption.\n", + " definition of HP:0034357 (Impaired renal tubular reabsorption of glucose)\n", + " \n", + " \n", + " Oophoritis\n", + " definition of HP:0031259 (Oophoritis)\n", + " \n", + " \n", + " An inflammation of the ovary or ovaries.\n", + " definition of HP:0031259 (Oophoritis)\n", + " \n", + " \n", + " #Inflammed ovary\n", + " definition of HP:0031259 (Oophoritis)\n", + " \n", + " \n", + " Abnormal platelet volume\n", + " definition of HP:0011876 (Abnormal platelet volume)\n", + " \n", + " \n", + " Anomalous size of platelets. Most normal sized platelets are 1.5 to 3 micrometers in diameter. Large platelets are 4 to 7 micrometers. Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers.\n", + " definition of HP:0011876 (Abnormal platelet volume)\n", + " \n", + " \n", + " Narrow chest\n", + " definition of HP:0000774 (Narrow chest)\n", + " \n", + " \n", + " Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.\n", + " definition of HP:0000774 (Narrow chest)\n", + " \n", + " \n", + " #Low chest circumference #Narrow chest #Narrow shoulders #Narrow thorax #Reduced anterior-posterior chest diameter\n", + " definition of HP:0000774 (Narrow chest)\n", + " \n", + " \n", + " Absent epiphysis of the proximal phalanx of the 4th finger\n", + " definition of HP:0009261 (Absent epiphysis of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " Absence of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger.\n", + " definition of HP:0009261 (Absent epiphysis of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " #Absent end part of the innermost bone of the ring finger\n", + " definition of HP:0009261 (Absent epiphysis of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " Stiff toe\n", + " definition of HP:0025265 (Stiff toe)\n", + " \n", + " \n", + " A sensation of tightness in a toe joint when attempting to move it, especially after a period of inactivity.\n", + " definition of HP:0025265 (Stiff toe)\n", + " \n", + " \n", + " #Stiff toe #Toe stiffness\n", + " definition of HP:0025265 (Stiff toe)\n", + " \n", + " \n", + " Stiff wrist\n", + " definition of HP:0025260 (Stiff wrist)\n", + " \n", + " \n", + " A sensation of tightness in the wrist joint when attempting to move it, especially after a period of inactivity.\n", + " definition of HP:0025260 (Stiff wrist)\n", + " \n", + " \n", + " #Stiff wrist #Wrist stiffness\n", + " definition of HP:0025260 (Stiff wrist)\n", + " \n", + " \n", + " Sclerosis of the middle phalanx of the 2nd toe\n", + " definition of HP:0100935 (Sclerosis of the middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Increased bone density in the middle bone of the 2nd toe\n", + " definition of HP:0100935 (Sclerosis of the middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " Widely spaced teeth\n", + " definition of HP:0000687 (Widely spaced teeth)\n", + " \n", + " \n", + " Increased spaces (diastemata) between most of the teeth in the same dental arch.\n", + " definition of HP:0000687 (Widely spaced teeth)\n", + " \n", + " \n", + " #Generalised dental spacing #Generalised spacing of teeth #Generalized dental spacing #Generalized spacing of teeth #Multiple diastemata #Wide-spaced teeth #Widely spaced teeth #Widely-spaced teeth\n", + " definition of HP:0000687 (Widely spaced teeth)\n", + " \n", + " \n", + " Ductal bile plugs\n", + " definition of HP:0034294 (Ductal bile plugs)\n", + " \n", + " \n", + " Bile thrombi that form an obstruction (plug) in a dilated bile duct.\n", + " definition of HP:0034294 (Ductal bile plugs)\n", + " \n", + " \n", + " Abnormal vasa vasorum morphology\n", + " definition of HP:0031465 (Abnormal vasa vasorum morphology)\n", + " \n", + " \n", + " A structural anomaly of vasa vasorum, which are defined as small blood vessels that supply or drain the walls of larger arteries and veins, delivering nutrients and oxygen as well as removing systemic waste products.\n", + " definition of HP:0031465 (Abnormal vasa vasorum morphology)\n", + " \n", + " \n", + " Curved 1st metacarpal\n", + " definition of HP:0010029 (Curved 1st metacarpal)\n", + " \n", + " \n", + " A deviation from the normal straight shape of the first metacarpal.\n", + " definition of HP:0010029 (Curved 1st metacarpal)\n", + " \n", + " \n", + " #Curved 1st long bone of hand\n", + " definition of HP:0010029 (Curved 1st metacarpal)\n", + " \n", + " \n", + " Facial hypotonia\n", + " definition of HP:0000297 (Facial hypotonia)\n", + " \n", + " \n", + " Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve).\n", + " definition of HP:0000297 (Facial hypotonia)\n", + " \n", + " \n", + " #Decreased facial muscle tone #Hypotonic facies #Low facial muscle tone #Reduced facial muscle tone\n", + " definition of HP:0000297 (Facial hypotonia)\n", + " \n", + " \n", + " Enlarged epiphysis of the distal phalanx of the hallux\n", + " definition of HP:0010141 (Enlarged epiphysis of the distal phalanx of the hallux)\n", + " \n", + " \n", + " #Enlarged end part of the outermost bone of the big toe\n", + " definition of HP:0010141 (Enlarged epiphysis of the distal phalanx of the hallux)\n", + " \n", + " \n", + " Reduced Inositol polyphosphate 5-phosphatase OCRL-1 activity in cultured fibroblasts\n", + " definition of HP:6000615 (Reduced Inositol polyphosphate 5-phosphatase OCRL-1 activity in cultured fibroblasts)\n", + " \n", + " \n", + " Concentration or activity of inositol polyphosphate 5-phosphatase OCRL-1 as measured in cultured fibroblasts is below the limits of normal. This enzyme has phosphoinositide 5-phosphatase (EC 3.1.3.36) activity.\n", + " definition of HP:6000615 (Reduced Inositol polyphosphate 5-phosphatase OCRL-1 activity in cultured fibroblasts)\n", + " \n", + " \n", + " Tetralogy of Fallot with absent subarterial conus\n", + " definition of HP:0011676 (Tetralogy of Fallot with absent subarterial conus)\n", + " \n", + " \n", + " Hypoplastic sacral vertebrae\n", + " definition of HP:0008475 (Hypoplastic sacral vertebrae)\n", + " \n", + " \n", + " Pulmonary necrosis\n", + " definition of HP:0033243 (Pulmonary necrosis)\n", + " \n", + " \n", + " Cellular death affecting one or more parts of the lung. Necrosis is caused by diverse external and internal factors which result in the unregulated digestion of cell components.\n", + " definition of HP:0033243 (Pulmonary necrosis)\n", + " \n", + " \n", + " Deep S wave in lead V5\n", + " definition of HP:0032197 (Deep S wave in lead V5)\n", + " \n", + " \n", + " Abnormal depth of the S wave in lead V5 of the electrocardiogram.\n", + " definition of HP:0032197 (Deep S wave in lead V5)\n", + " \n", + " \n", + " Peripheral vitreous opacities\n", + " definition of HP:0007710 (Peripheral vitreous opacities)\n", + " \n", + " \n", + " Mask-like facies\n", + " definition of HP:0000298 (Mask-like facies)\n", + " \n", + " \n", + " A lack of facial expression often with staring eyes and a slightly open mouth.\n", + " definition of HP:0000298 (Mask-like facies)\n", + " \n", + " \n", + " #Amimia #Expressionless face #Lack of facial expression #Mask-like facial appearance #Masklike facies\n", + " definition of HP:0000298 (Mask-like facies)\n", + " \n", + " \n", + " Fractured distal phalanx of pedal digit 1\n", + " definition of HP:0041180 (Fractured distal phalanx of pedal digit 1)\n", + " \n", + " \n", + " A partial or complete breakage of the distal phalanx of pedal digit 1.\n", + " definition of HP:0041180 (Fractured distal phalanx of pedal digit 1)\n", + " \n", + " \n", + " #bone distal phalanx of pedal digit 1\n", + " definition of HP:0041180 (Fractured distal phalanx of pedal digit 1)\n", + " \n", + " \n", + " Decreased proportion of CD8-positive T cells\n", + " definition of HP:0005415 (Decreased proportion of CD8-positive T cells)\n", + " \n", + " \n", + " A decreased proportion of circulating CD8-positive, alpha-beta T cells relative to total number of T cells.\n", + " definition of HP:0005415 (Decreased proportion of CD8-positive T cells)\n", + " \n", + " \n", + " #CD8+ T-cell lymphopenia #Decreased proportion of CD8+ T cells #Decreased proportion of CD8-positive, alpha-beta T cells\n", + " definition of HP:0005415 (Decreased proportion of CD8-positive T cells)\n", + " \n", + " \n", + " Hypersarcosinemia\n", + " definition of HP:0010896 (Hypersarcosinemia)\n", + " \n", + " \n", + " An elevated plasma concentration of sarcosine.\n", + " definition of HP:0010896 (Hypersarcosinemia)\n", + " \n", + " \n", + " #High plasma sarcosine levels\n", + " definition of HP:0010896 (Hypersarcosinemia)\n", + " \n", + " \n", + " Transient hyperphenylalaninemia\n", + " definition of HP:0008297 (Transient hyperphenylalaninemia)\n", + " \n", + " \n", + " A condition of not having consistently high levels of phenylalanine in the blood but of experiencing temporary hyperphenylalaninemia following ingestion of large quantities of phenylalanine (for instance, following an oral loading test with phenylalanine).\n", + " definition of HP:0008297 (Transient hyperphenylalaninemia)\n", + " \n", + " \n", + " Mesangial fibrillary deposits\n", + " definition of HP:0033545 (Mesangial fibrillary deposits)\n", + " \n", + " \n", + " Extracellular mesangial aggregates composed of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material.\n", + " definition of HP:0033545 (Mesangial fibrillary deposits)\n", + " \n", + " \n", + " Abnormal eyelash morphology\n", + " definition of HP:0000499 (Abnormal eyelash morphology)\n", + " \n", + " \n", + " An abnormality of the eyelashes.\n", + " definition of HP:0000499 (Abnormal eyelash morphology)\n", + " \n", + " \n", + " #Abnormal eyelashes #Abnormality of the eyelashes #Eyelash abnormality\n", + " definition of HP:0000499 (Abnormal eyelash morphology)\n", + " \n", + " \n", + " Renal intratubular crystals\n", + " definition of HP:0032628 (Renal intratubular crystals)\n", + " \n", + " \n", + " Hypertonic dehydration\n", + " definition of HP:0001986 (Hypertonic dehydration)\n", + " \n", + " \n", + " #Hyperosmolar dehydration\n", + " definition of HP:0001986 (Hypertonic dehydration)\n", + " \n", + " \n", + " Phosphohydroxylysinuria\n", + " definition of HP:0031870 (Phosphohydroxylysinuria)\n", + " \n", + " \n", + " An elevated concentration of phosphohydroxylysine in the urine.\n", + " definition of HP:0031870 (Phosphohydroxylysinuria)\n", + " \n", + " \n", + " Craniorachischisis\n", + " definition of HP:0030770 (Craniorachischisis)\n", + " \n", + " \n", + " A neural tube defect in which both the brain and spinal cord remain open to varying degrees.\n", + " definition of HP:0030770 (Craniorachischisis)\n", + " \n", + " \n", + " Bradyopsia\n", + " definition of HP:0030511 (Bradyopsia)\n", + " \n", + " \n", + " Difficulty in seeing moving objects.\n", + " definition of HP:0030511 (Bradyopsia)\n", + " \n", + " \n", + " #Difficulty seeing moving objects\n", + " definition of HP:0030511 (Bradyopsia)\n", + " \n", + " \n", + " Subacute progressive viral hepatitis\n", + " definition of HP:0006572 (Subacute progressive viral hepatitis)\n", + " \n", + " \n", + " Distal/middle symphalangism of 5th finger\n", + " definition of HP:0009244 (Distal/middle symphalangism of 5th finger)\n", + " \n", + " \n", + " Fusion of the terminal/distal and middle phalanges of the 5th finger.\n", + " definition of HP:0009244 (Distal/middle symphalangism of 5th finger)\n", + " \n", + " \n", + " #Fifth finger distal interphalangeal joint symphalangism #Fused end and middle bones of little finger #Fused end and middle bones of pinkie finger #Fused end and middle bones of pinky finger #Symphalangism of the distal and middle phalanges of the 5th finger #Symphalangism of the terminal and middle phalanges of the 5th finger\n", + " definition of HP:0009244 (Distal/middle symphalangism of 5th finger)\n", + " \n", + " \n", + " EEG with occipital focal spike waves\n", + " definition of HP:0012011 (EEG with occipital focal spike waves)\n", + " \n", + " \n", + " EEG with focal sharp transient waves in the occipital region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.\n", + " definition of HP:0012011 (EEG with occipital focal spike waves)\n", + " \n", + " \n", + " Percussion myotonia\n", + " definition of HP:0010548 (Percussion myotonia)\n", + " \n", + " \n", + " A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a rubber percussion hammer, or a similar object).\n", + " definition of HP:0010548 (Percussion myotonia)\n", + " \n", + " \n", + " #Transient swelling of muscle induced by percussion\n", + " definition of HP:0010548 (Percussion myotonia)\n", + " \n", + " \n", + " Mycobacterium bacteremia\n", + " definition of HP:0034543 (Mycobacterium bacteremia)\n", + " \n", + " \n", + " Presence of viable mycobacteria in the blood.\n", + " definition of HP:0034543 (Mycobacterium bacteremia)\n", + " \n", + " \n", + " #Mycobacterium present on blood culture\n", + " definition of HP:0034543 (Mycobacterium bacteremia)\n", + " \n", + " \n", + " Abnormal cerebellar peduncle morphology\n", + " definition of HP:0011931 (Abnormal cerebellar peduncle morphology)\n", + " \n", + " \n", + " An anomaly of the cerebellar peduncles. The superior, middle, and inferior cerebellar peduncles emerge from the cerebellum. The superior cerebellar penduncles connect the cerebellum to the midbrain, the middle cerebellar peduncles connect the cerebellum to the pons, and the inferior cerebellar peduncle connects the medulla spinalis and medulla oblongata with the cerebellum.\n", + " definition of HP:0011931 (Abnormal cerebellar peduncle morphology)\n", + " \n", + " \n", + " #Abnormality of the cerebellar peduncle\n", + " definition of HP:0011931 (Abnormal cerebellar peduncle morphology)\n", + " \n", + " \n", + " Abnormality of the proximal tibial epiphysis\n", + " definition of HP:0010591 (Abnormality of the proximal tibial epiphysis)\n", + " \n", + " \n", + " Any abnormality of the proximal epiphysis of the tibia.\n", + " definition of HP:0010591 (Abnormality of the proximal tibial epiphysis)\n", + " \n", + " \n", + " #Abnormality of the end part of innermost shankbone #Abnormality of the end part of innermost shinbone\n", + " definition of HP:0010591 (Abnormality of the proximal tibial epiphysis)\n", + " \n", + " \n", + " Severe receptive language delay\n", + " definition of HP:0011352 (Severe receptive language delay)\n", + " \n", + " \n", + " A severe delay in the acquisition of the ability to understand the speech of others.\n", + " definition of HP:0011352 (Severe receptive language delay)\n", + " \n", + " \n", + " Abnormal placental size\n", + " definition of HP:0012767 (Abnormal placental size)\n", + " \n", + " \n", + " A deviation from normal size of the placenta.\n", + " definition of HP:0012767 (Abnormal placental size)\n", + " \n", + " \n", + " Abnormal alpha granule distribution\n", + " definition of HP:0012525 (Abnormal alpha granule distribution)\n", + " \n", + " \n", + " An anomalous location and arrangement of platelet alpha granules.\n", + " definition of HP:0012525 (Abnormal alpha granule distribution)\n", + " \n", + " \n", + " Sex reversal\n", + " definition of HP:0012245 (Sex reversal)\n", + " \n", + " \n", + " Development of the reproductive system is inconsistent with the chromosomal sex.\n", + " definition of HP:0012245 (Sex reversal)\n", + " \n", + " \n", + " Focal aware cognitive seizure with forced thinking\n", + " definition of HP:0032705 (Focal aware cognitive seizure with forced thinking)\n", + " \n", + " \n", + " A focal cognitive seizure with forced thinking characterized by retained awareness throughout the seizure.\n", + " definition of HP:0032705 (Focal aware cognitive seizure with forced thinking)\n", + " \n", + " \n", + " Focal cortical dysplasia type IIIc\n", + " definition of HP:0032057 (Focal cortical dysplasia type IIIc)\n", + " \n", + " \n", + " A subtype of focal cortical dysplasia type III that is characterized by alterations in architectural (cortical dyslamination, hypoplasia) or cytoarchitectural composition of the neocortex (hypertrophic neurons), which occur adjacent to vascular malformations (cavernomas, arteriovenous malformations, leptomeningeal vascular malformations, telangiectasias, meningioangiomatosis).\n", + " definition of HP:0032057 (Focal cortical dysplasia type IIIc)\n", + " \n", + " \n", + " Aortic laminar medial collapse\n", + " definition of HP:0032087 (Aortic laminar medial collapse)\n", + " \n", + " \n", + " Architecturally, a compaction of aortic medial elastic fibers that creates thinning of the lamellar unit secondary to a band-like smooth muscle cell loss identified using a stain for elastic fibers.\n", + " definition of HP:0032087 (Aortic laminar medial collapse)\n", + " \n", + " \n", + " Fractured navicular bone of pes\n", + " definition of HP:0041149 (Fractured navicular bone of pes)\n", + " \n", + " \n", + " A partial or complete breakage of the navicular bone of pes.\n", + " definition of HP:0041149 (Fractured navicular bone of pes)\n", + " \n", + " \n", + " #bone navicular bone of pes\n", + " definition of HP:0041149 (Fractured navicular bone of pes)\n", + " \n", + " \n", + " Hemihypertrophy of lower limb\n", + " definition of HP:0100553 (Hemihypertrophy of lower limb)\n", + " \n", + " \n", + " Overgrowth of only one leg.\n", + " definition of HP:0100553 (Hemihypertrophy of lower limb)\n", + " \n", + " \n", + " #Overgrowth of one leg\n", + " definition of HP:0100553 (Hemihypertrophy of lower limb)\n", + " \n", + " \n", + " Thick skull base\n", + " definition of HP:0002737 (Thick skull base)\n", + " \n", + " \n", + " #Increased thickness of bone of skull base #Increased thickness of skull base #Thick skull base\n", + " definition of HP:0002737 (Thick skull base)\n", + " \n", + " \n", + " Increased urinary orosomucoid\n", + " definition of HP:0032377 (Increased urinary orosomucoid)\n", + " \n", + " \n", + " An increased concentration in the urine of alpha-1-acid glycoprotein (AGP), also known as orosomucoid (ORM). AGP is a 41-43-kDa glycoprotein with a pI of 2.8-3.8. AGP is an acute-phase protein that has many activities including, but not limited to, acting as an acute-phase reactant and disease marker, modulating immunity, binding and carrying drugs, maintaining the barrier function of capillary, and mediating the sphingolipid metabolism.\n", + " definition of HP:0032377 (Increased urinary orosomucoid)\n", + " \n", + " \n", + " #Increased urinary alpha-1-acid glycoprotein\n", + " definition of HP:0032377 (Increased urinary orosomucoid)\n", + " \n", + " \n", + " Autophony\n", + " definition of HP:6000032 (Autophony)\n", + " \n", + " \n", + " Hearing one's own voice resonating loudly in the ear.\n", + " definition of HP:6000032 (Autophony)\n", + " \n", + " \n", + " Abnormal sweat homeostasis\n", + " definition of HP:0040127 (Abnormal sweat homeostasis)\n", + " \n", + " \n", + " An abnormality of the composition of sweat or the levels of its components.\n", + " definition of HP:0040127 (Abnormal sweat homeostasis)\n", + " \n", + " \n", + " Elevated circulating granulocyte-macrophage colony-stimulating factor concentration\n", + " definition of HP:6000245 (Elevated circulating granulocyte-macrophage colony-stimulating factor concentration)\n", + " \n", + " \n", + " The concentration of granulocyte-macrophage colony-stimulating factor (GM-CSF) in the blood circulation is above the upper limit of normal.\n", + " definition of HP:6000245 (Elevated circulating granulocyte-macrophage colony-stimulating factor concentration)\n", + " \n", + " \n", + " #Elevated circulating GM-CSF concentration #GMCSF high in blood\n", + " definition of HP:6000245 (Elevated circulating granulocyte-macrophage colony-stimulating factor concentration)\n", + " \n", + " \n", + " Eunuchoid habitus\n", + " definition of HP:0003782 (Eunuchoid habitus)\n", + " \n", + " \n", + " A body habitus that is tall, slim and underweight, with long legs and long arms (i.e., arm span exceeds height by 5 cm or more).\n", + " definition of HP:0003782 (Eunuchoid habitus)\n", + " \n", + " \n", + " Decreased serum estriol\n", + " definition of HP:0025137 (Decreased serum estriol)\n", + " \n", + " \n", + " A reduction below normal limits of estriol in the circulation.\n", + " definition of HP:0025137 (Decreased serum estriol)\n", + " \n", + " \n", + " Horseshoe lung\n", + " definition of HP:0033242 (Horseshoe lung)\n", + " \n", + " \n", + " A horseshoe lung is an uncommon congenital abnormality caused by the partial fusion of the bases of both lungs behind the pericardial sac.\n", + " definition of HP:0033242 (Horseshoe lung)\n", + " \n", + " \n", + " Ejection click\n", + " definition of HP:0034421 (Ejection click)\n", + " \n", + " \n", + " A high-pitched sound that occurs at the moment of maximal opening of the aortic or pulmonary valves. They are heard just after the first heart sound. The sounds occur in the presence of a dilated aorta or pulmonary artery or in the presence of a bicuspid or flexible stenotic aortic or pulmonary valve. Ejection clicks may also be called ejection sounds.\n", + " definition of HP:0034421 (Ejection click)\n", + " \n", + " \n", + " #Cardiac click sound on auscultation\n", + " definition of HP:0034421 (Ejection click)\n", + " \n", + " \n", + " Germinal center B-lymphocyte BCL2 expression\n", + " definition of HP:0020296 (Germinal center B-lymphocyte BCL2 expression)\n", + " \n", + " \n", + " Positive staining for BCL2 apoptosis regulator protein in lymph-node germinal center B cells.\n", + " definition of HP:0020296 (Germinal center B-lymphocyte BCL2 expression)\n", + " \n", + " \n", + " Decreased circulating thyroxine-binding globulin concentration\n", + " definition of HP:0034591 (Decreased circulating thyroxine-binding globulin concentration)\n", + " \n", + " \n", + " A reduction from the normal concentration of thyroxine-binding globulin (TBG) in the blood circulation.\n", + " definition of HP:0034591 (Decreased circulating thyroxine-binding globulin concentration)\n", + " \n", + " \n", + " #Thyroxine-binding globulin low in blood\n", + " definition of HP:0034591 (Decreased circulating thyroxine-binding globulin concentration)\n", + " \n", + " \n", + " Mechanical ileus\n", + " definition of HP:0010676 (Mechanical ileus)\n", + " \n", + " \n", + " Bacteriuria\n", + " definition of HP:0012461 (Bacteriuria)\n", + " \n", + " \n", + " The presence of bacteria in the urine.\n", + " definition of HP:0012461 (Bacteriuria)\n", + " \n", + " \n", + " #Bacteria in urine #High urine bacteria\n", + " definition of HP:0012461 (Bacteriuria)\n", + " \n", + " \n", + " White mater abnormalities in the posterior periventricular region\n", + " definition of HP:0006812 (White mater abnormalities in the posterior periventricular region)\n", + " \n", + " \n", + " Photosensitive myoclonic-tonic-clonic seizure\n", + " definition of HP:0032855 (Photosensitive myoclonic-tonic-clonic seizure)\n", + " \n", + " \n", + " Generalised myoclonic-tonic-clonic seizure provoked by flashing or flickering light.\n", + " definition of HP:0032855 (Photosensitive myoclonic-tonic-clonic seizure)\n", + " \n", + " \n", + " #Photically induced myoclonic-tonic-clonic seizure\n", + " definition of HP:0032855 (Photosensitive myoclonic-tonic-clonic seizure)\n", + " \n", + " \n", + " Bowel incontinence\n", + " definition of HP:0002607 (Bowel incontinence)\n", + " \n", + " \n", + " Involuntary fecal soiling in adults and children who have usually already been toilet trained.\n", + " definition of HP:0002607 (Bowel incontinence)\n", + " \n", + " \n", + " #Anal incontinence #Faecal incontinence #Fecal incontinence #Loss of bowel control\n", + " definition of HP:0002607 (Bowel incontinence)\n", + " \n", + " \n", + " Thoracoabdominal ectopia cordis\n", + " definition of HP:0011586 (Thoracoabdominal ectopia cordis)\n", + " \n", + " \n", + " Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and displacement partially into the abdominal cavity.\n", + " definition of HP:0011586 (Thoracoabdominal ectopia cordis)\n", + " \n", + " \n", + " Stress urinary incontinence\n", + " definition of HP:0010992 (Stress urinary incontinence)\n", + " \n", + " \n", + " Involuntary urine leakage synchronous with exertion, or actions such as sneezing, or coughing.\n", + " definition of HP:0010992 (Stress urinary incontinence)\n", + " \n", + " \n", + " Periventricular white matter hypodensities\n", + " definition of HP:0012794 (Periventricular white matter hypodensities)\n", + " \n", + " \n", + " Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles.\n", + " definition of HP:0012794 (Periventricular white matter hypodensities)\n", + " \n", + " \n", + " #Periventricular cerebral white matter hypodensities\n", + " definition of HP:0012794 (Periventricular white matter hypodensities)\n", + " \n", + " \n", + " Continuous spike and waves during slow sleep\n", + " definition of HP:0031491 (Continuous spike and waves during slow sleep)\n", + " \n", + " \n", + " Diffuse, bilateral and recently also unilateral or focal localization spike-wave occurring in slow sleep or non-rapid eye movement sleep.\n", + " definition of HP:0031491 (Continuous spike and waves during slow sleep)\n", + " \n", + " \n", + " #CSWS #Electrical status epilepticus during slow-wave sleep\n", + " definition of HP:0031491 (Continuous spike and waves during slow sleep)\n", + " \n", + " \n", + " Reduced procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 activity in cultured fibroblasts\n", + " definition of HP:6000826 (Reduced procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 activity in cultured fibroblasts)\n", + " \n", + " \n", + " Concentration or activity of procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 (PLOD1; also known as Lysyl hydroxylase; EC 1.14.11.4) as measured in cultured fibroblasts is below the limits of normal. PLOD1 catalyzes the formation of hydroxylysine in collagens and other proteins with collagen-like amino acid sequences, by the hydroxylation of lysine residues in X-lys-gly sequences.\n", + " definition of HP:6000826 (Reduced procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 activity in cultured fibroblasts)\n", + " \n", + " \n", + " Intrinsic hand muscle atrophy\n", + " definition of HP:0008954 (Intrinsic hand muscle atrophy)\n", + " \n", + " \n", + " Atrophy of the intrinsic muscle groups of the hand, comprising the thenar and hypothenar muscles; the interossei muscles; and the lumbrical muscles.\n", + " definition of HP:0008954 (Intrinsic hand muscle atrophy)\n", + " \n", + " \n", + " Lissencephaly\n", + " definition of HP:0001339 (Lissencephaly)\n", + " \n", + " \n", + " A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.\n", + " definition of HP:0001339 (Lissencephaly)\n", + " \n", + " \n", + " #Fewer or absent grooves in brain\n", + " definition of HP:0001339 (Lissencephaly)\n", + " \n", + " \n", + " Contracture of the metacarpophalangeal joint of the 5th finger\n", + " definition of HP:0009186 (Contracture of the metacarpophalangeal joint of the 5th finger)\n", + " \n", + " \n", + " Chronic loss of joint motion of the metacarpophalangeal joint of the 5th finger due to structural changes in non-bony tissue.\n", + " definition of HP:0009186 (Contracture of the metacarpophalangeal joint of the 5th finger)\n", + " \n", + " \n", + " Rectal atresia\n", + " definition of HP:0025023 (Rectal atresia)\n", + " \n", + " \n", + " A developmental defect resulting in complete obliteration of the lumen of the rectum. That is, there is an abnormal closure, or atresia of the tubular structure of the rectum.\n", + " definition of HP:0025023 (Rectal atresia)\n", + " \n", + " \n", + " #Atresia of the rectum\n", + " definition of HP:0025023 (Rectal atresia)\n", + " \n", + " \n", + " Sclerotic humeral metaphysis\n", + " definition of HP:0003918 (Sclerotic humeral metaphysis)\n", + " \n", + " \n", + " #Hardening of wide portion of long bone of upper arm #Stiffening of wide portion of long bone of upper arm\n", + " definition of HP:0003918 (Sclerotic humeral metaphysis)\n", + " \n", + " \n", + " Overlapping fingers\n", + " definition of HP:0010557 (Overlapping fingers)\n", + " \n", + " \n", + " A finger resting on the dorsal surface of an adjacent digit when the hand is at rest.\n", + " definition of HP:0010557 (Overlapping fingers)\n", + " \n", + " \n", + " Pseudohypoaldosteronism\n", + " definition of HP:0008242 (Pseudohypoaldosteronism)\n", + " \n", + " \n", + " A state of renal tubular unresponsiveness or resistance to the action of aldosterone.\n", + " definition of HP:0008242 (Pseudohypoaldosteronism)\n", + " \n", + " \n", + " Absent cremaster reflex\n", + " definition of HP:0031829 (Absent cremaster reflex)\n", + " \n", + " \n", + " Lack of response to scratching of the skin of the medial thigh, which in males normally elicits a brisk, short elevation of the ipsilateral testis, a phenomenon that is referred to as the cremaster reflex.\n", + " definition of HP:0031829 (Absent cremaster reflex)\n", + " \n", + " \n", + " #Absent cremasteric reflex\n", + " definition of HP:0031829 (Absent cremaster reflex)\n", + " \n", + " \n", + " Xerostomia\n", + " definition of HP:0000217 (Xerostomia)\n", + " \n", + " \n", + " Dryness of the mouth due to salivary gland dysfunction.\n", + " definition of HP:0000217 (Xerostomia)\n", + " \n", + " \n", + " #Dry mouth #Dry mouth syndrome #Reduced salivation\n", + " definition of HP:0000217 (Xerostomia)\n", + " \n", + " \n", + " Meconium peritonitis\n", + " definition of HP:0030717 (Meconium peritonitis)\n", + " \n", + " \n", + " Peritonitis caused by intrauterine intestinal rupture and spillage of fetal meconium into the fetal peritoneal cavity. Intra-peritoneal meconium usually calcifies, sometimes within 24 hours. Ultrasound findings may include intraabdominal calcifications.\n", + " definition of HP:0030717 (Meconium peritonitis)\n", + " \n", + " \n", + " Glomerular basement membrane disruption\n", + " definition of HP:0033485 (Glomerular basement membrane disruption)\n", + " \n", + " \n", + " A point of rupture in the glomerular basement membrane (GBM) where the discontinuous portions of GBM are still identifiable with a basement membrane stain such as Periodic acid Schiff (PAS) or silver.\n", + " definition of HP:0033485 (Glomerular basement membrane disruption)\n", + " \n", + " \n", + " #Disruption of the glomerular basement membrane #Glomerular basement membrane rupture\n", + " definition of HP:0033485 (Glomerular basement membrane disruption)\n", + " \n", + " \n", + " Renal glomerular foam cells\n", + " definition of HP:0032583 (Renal glomerular foam cells)\n", + " \n", + " \n", + " Absent retinal pigment epithelium\n", + " definition of HP:0007980 (Absent retinal pigment epithelium)\n", + " \n", + " \n", + " Short finger\n", + " definition of HP:0009381 (Short finger)\n", + " \n", + " \n", + " Abnormally short finger associated with developmental hypoplasia.\n", + " definition of HP:0009381 (Short finger)\n", + " \n", + " \n", + " #Hypoplastic digits #Hypoplastic fingers #Hypoplastic/small fingers #Short finger #Stubby finger #Stubby fingers\n", + " definition of HP:0009381 (Short finger)\n", + " \n", + " \n", + " Eschar\n", + " definition of HP:6000793 (Eschar)\n", + " \n", + " \n", + " A type of wound characterized by dry, black, hard necrotic tissue.\n", + " definition of HP:6000793 (Eschar)\n", + " \n", + " \n", + " #Black eschar #Black spot #Tache noire\n", + " definition of HP:6000793 (Eschar)\n", + " \n", + " \n", + " Retinitis\n", + " definition of HP:0032118 (Retinitis)\n", + " \n", + " \n", + " Inflammation of the retina of the eye.\n", + " definition of HP:0032118 (Retinitis)\n", + " \n", + " \n", + " Increased circulating hemoglobin concentration\n", + " definition of HP:0001900 (Increased circulating hemoglobin concentration)\n", + " \n", + " \n", + " Concentration of hemoglobin in the blood circulation above the upper limit of normal.\n", + " definition of HP:0001900 (Increased circulating hemoglobin concentration)\n", + " \n", + " \n", + " #Increased haemoglobin #Increased haemoglobin concentration #Increased Hb #Increased Hb concentration #Increased hemoglobin #Increased hemoglobin concentration\n", + " definition of HP:0001900 (Increased circulating hemoglobin concentration)\n", + " \n", + " \n", + " Abnormal umbilical blood flow measurement\n", + " definition of HP:0025657 (Abnormal umbilical blood flow measurement)\n", + " \n", + " \n", + " Battle sign\n", + " definition of HP:0034771 (Battle sign)\n", + " \n", + " \n", + " Battle sign is bruising over the mastoid process that is typically the result of head trauma. It is retroauricular or mastoid ecchymosis that is typically the result of head trauma. Battle sign typically requires significant head trauma and may indicate significant internal injury to the brain and not just the posterior cranial vault or mastoid.\n", + " definition of HP:0034771 (Battle sign)\n", + " \n", + " \n", + " #Battle sign bruise #Battle's sign\n", + " definition of HP:0034771 (Battle sign)\n", + " \n", + " \n", + " Asymmetric limb muscle stiffness\n", + " definition of HP:0007156 (Asymmetric limb muscle stiffness)\n", + " \n", + " \n", + " Stiffness of the limbs (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) occurring in an asymmetric pattern.\n", + " definition of HP:0007156 (Asymmetric limb muscle stiffness)\n", + " \n", + " \n", + " Absent nares\n", + " definition of HP:0100596 (Absent nares)\n", + " \n", + " \n", + " The nostrils (the paired channels of the nose) are not present.\n", + " definition of HP:0100596 (Absent nares)\n", + " \n", + " \n", + " #Abouphalia #Aplasia of the nares #Missing nostrils\n", + " definition of HP:0100596 (Absent nares)\n", + " \n", + " \n", + " Complete duplication of the proximal phalanx of the 2nd finger\n", + " definition of HP:0009954 (Complete duplication of the proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Complete duplication of the second proximal phalanx of hand.\n", + " definition of HP:0009954 (Complete duplication of the proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Complete duplication of the proximal bone of the index finger\n", + " definition of HP:0009954 (Complete duplication of the proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Positive CSF arbovirus nucleic acid test\n", + " definition of HP:6000549 (Positive CSF arbovirus nucleic acid test)\n", + " \n", + " \n", + " Detection of arbovus nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR..\n", + " definition of HP:6000549 (Positive CSF arbovirus nucleic acid test)\n", + " \n", + " \n", + " Tachyphagia\n", + " definition of HP:6000352 (Tachyphagia)\n", + " \n", + " \n", + " Excessively rapid eating of food.\n", + " definition of HP:6000352 (Tachyphagia)\n", + " \n", + " \n", + " Supraclavicular lymphadenopathy\n", + " definition of HP:0034750 (Supraclavicular lymphadenopathy)\n", + " \n", + " \n", + " Enlarged lymph node located just above the clavicle (collarbone).\n", + " definition of HP:0034750 (Supraclavicular lymphadenopathy)\n", + " \n", + " \n", + " Abnormal third cranial nerve morphology\n", + " definition of HP:0025735 (Abnormal third cranial nerve morphology)\n", + " \n", + " \n", + " Any structural abnormality of the third (oculomotor) cranial nerve.\n", + " definition of HP:0025735 (Abnormal third cranial nerve morphology)\n", + " \n", + " \n", + " Depigmented fundus\n", + " definition of HP:0007680 (Depigmented fundus)\n", + " \n", + " \n", + " Posterior retinal neovascularization\n", + " definition of HP:0007778 (Posterior retinal neovascularization)\n", + " \n", + " \n", + " A type of retinal neovascularization that affects the posterior pole of the retina.\n", + " definition of HP:0007778 (Posterior retinal neovascularization)\n", + " \n", + " \n", + " #Neovascularization of peripheral and posterior retina #Posterior retinal neovascularisation\n", + " definition of HP:0007778 (Posterior retinal neovascularization)\n", + " \n", + " \n", + " Anti-neutrophil elastase antibody positivity\n", + " definition of HP:0034104 (Anti-neutrophil elastase antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against neutrophil elastase.\n", + " definition of HP:0034104 (Anti-neutrophil elastase antibody positivity)\n", + " \n", + " \n", + " Splenic rupture\n", + " definition of HP:0012223 (Splenic rupture)\n", + " \n", + " \n", + " A breach of the capsule of the spleen.\n", + " definition of HP:0012223 (Splenic rupture)\n", + " \n", + " \n", + " #Ruptured spleen #Splenic rupture\n", + " definition of HP:0012223 (Splenic rupture)\n", + " \n", + " \n", + " Therapeutic abortion\n", + " definition of HP:0030449 (Therapeutic abortion)\n", + " \n", + " \n", + " Delivery by means of therapeutic termination of pregnancy. Therapeutic abortion may be done to end a pregnancy if the mother's life is in danger or if the baby has abnormalities involving the major organ systems and is not expected to survive after birth or by choice.\n", + " definition of HP:0030449 (Therapeutic abortion)\n", + " \n", + " \n", + " Preaxial hand polydactyly\n", + " definition of HP:0001177 (Preaxial hand polydactyly)\n", + " \n", + " \n", + " Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits.\n", + " definition of HP:0001177 (Preaxial hand polydactyly)\n", + " \n", + " \n", + " #Extra thumb #Polydactyly affecting the thumb #Preaxial polydactyly of hands #Supernumerary thumb #thumb polydactyly\n", + " definition of HP:0001177 (Preaxial hand polydactyly)\n", + " \n", + " \n", + " Abnormal microglia morphology\n", + " definition of HP:0100708 (Abnormal microglia morphology)\n", + " \n", + " \n", + " An abnormality of the microglial cells. They are also known as brain-resident macrophages or Hortega cells.\n", + " definition of HP:0100708 (Abnormal microglia morphology)\n", + " \n", + " \n", + " #Abnormality of the microglia\n", + " definition of HP:0100708 (Abnormal microglia morphology)\n", + " \n", + " \n", + " Cervical spine instability\n", + " definition of HP:0010646 (Cervical spine instability)\n", + " \n", + " \n", + " An abnormal lack of stability of the cervical spine.\n", + " definition of HP:0010646 (Cervical spine instability)\n", + " \n", + " \n", + " Bifid antitragus\n", + " definition of HP:0011250 (Bifid antitragus)\n", + " \n", + " \n", + " Double rather than single peak of the antitragus.\n", + " definition of HP:0011250 (Bifid antitragus)\n", + " \n", + " \n", + " #Double antitragus\n", + " definition of HP:0011250 (Bifid antitragus)\n", + " \n", + " \n", + " Heart block\n", + " definition of HP:0012722 (Heart block)\n", + " \n", + " \n", + " Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway.\n", + " definition of HP:0012722 (Heart block)\n", + " \n", + " \n", + " Ring scotoma\n", + " definition of HP:0030529 (Ring scotoma)\n", + " \n", + " \n", + " An annular field defect centered on fixation.\n", + " definition of HP:0030529 (Ring scotoma)\n", + " \n", + " \n", + " #Annular scotoma\n", + " definition of HP:0030529 (Ring scotoma)\n", + " \n", + " \n", + " Subhyaloid hemorrhage\n", + " definition of HP:0025239 (Subhyaloid hemorrhage)\n", + " \n", + " \n", + " A localized detachment of the vitreous from the retina due to the accumulation of blood. When localized in the macular area, it results in sudden profound loss of vision. Subhyaloid premacular hemorrhage is typically characterized by a circumscribed, round or dumb-bell shaped, bright red mound of blood beneath the internal limiting membrane (ILM) or between the ILM and hyaloid face, in or near to the central macular area.\n", + " definition of HP:0025239 (Subhyaloid hemorrhage)\n", + " \n", + " \n", + " #Subhyaloid haemorrhage #Subhyaloid heme\n", + " definition of HP:0025239 (Subhyaloid hemorrhage)\n", + " \n", + " \n", + " Diaminoaciduria\n", + " definition of HP:0008339 (Diaminoaciduria)\n", + " \n", + " \n", + " An increased urine level of any amino acid carrying two amino groups (Asparagine, glutamine and lysine, cystine, ornithine).\n", + " definition of HP:0008339 (Diaminoaciduria)\n", + " \n", + " \n", + " Central nervous system axonal spheroid\n", + " definition of HP:0034381 (Central nervous system axonal spheroid)\n", + " \n", + " \n", + " Axonal spheroids are bubble-like biological features that form on most degenerating axons. During neurodegeneration, bubble-like swellings form along the length of the axon, a primary and early effect of dynamic axonal deformation. These varicosities, spheroids, or swellings have been described as beads on a string and branches bearing fruit, and they frequently appear on degenerating axons. The focal swellings on degenerating axons, axonal spheroids, are often filled with cellular debris such as organelles, pathological proteins, and disorganized cytoskeletal elements.\n", + " definition of HP:0034381 (Central nervous system axonal spheroid)\n", + " \n", + " \n", + " #CNS axonal spheroid\n", + " definition of HP:0034381 (Central nervous system axonal spheroid)\n", + " \n", + " \n", + " Elevated circulating aconitic acid concentration\n", + " definition of HP:0033179 (Elevated circulating aconitic acid concentration)\n", + " \n", + " \n", + " Concentration of aconitic acid in the blood circulation above the upper limit of normal.\n", + " definition of HP:0033179 (Elevated circulating aconitic acid concentration)\n", + " \n", + " \n", + " Groin pain\n", + " definition of HP:0031520 (Groin pain)\n", + " \n", + " \n", + " An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the groin region.\n", + " definition of HP:0031520 (Groin pain)\n", + " \n", + " \n", + " EEG with temporal sharp slow waves\n", + " definition of HP:0011289 (EEG with temporal sharp slow waves)\n", + " \n", + " \n", + " EEG with sharp slow waves in the temporal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.\n", + " definition of HP:0011289 (EEG with temporal sharp slow waves)\n", + " \n", + " \n", + " Cervical endometriosis\n", + " definition of HP:0012889 (Cervical endometriosis)\n", + " \n", + " \n", + " Abnormal growth of endometrial cells (which are normally limited to the uterus) within the cervix.\n", + " definition of HP:0012889 (Cervical endometriosis)\n", + " \n", + " \n", + " Focal motor seizure with paresis/paralysis\n", + " definition of HP:0032721 (Focal motor seizure with paresis/paralysis)\n", + " \n", + " \n", + " A focal motor seizure characterized by weakness or complete paralysis of a muscle or group of muscles as the initial semiological manifestation.\n", + " definition of HP:0032721 (Focal motor seizure with paresis/paralysis)\n", + " \n", + " \n", + " Milky appearance of bronchoalveolar lavage fluid\n", + " definition of HP:0033173 (Milky appearance of bronchoalveolar lavage fluid)\n", + " \n", + " \n", + " Return of lavage fluid with a milky appearance due to the accumulation of a mixture of pulmonary surfactant, which is a lipoprotein complex, in the alveolar space.\n", + " definition of HP:0033173 (Milky appearance of bronchoalveolar lavage fluid)\n", + " \n", + " \n", + " Abnormal urinary nucleobase concentration\n", + " definition of HP:0032572 (Abnormal urinary nucleobase concentration)\n", + " \n", + " \n", + " A deviation from the normal level of a nucleobase in the urine. Nucleobases are nitrogen-containing biological compounds that form nucleosides: adenine (A), cytosine (C), guanine (G), thymine (T), and uracil (U).\n", + " definition of HP:0032572 (Abnormal urinary nucleobase concentration)\n", + " \n", + " \n", + " Ichthyosis\n", + " definition of HP:0008064 (Ichthyosis)\n", + " \n", + " \n", + " An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.\n", + " definition of HP:0008064 (Ichthyosis)\n", + " \n", + " \n", + " #Ichthyosiform abnormality of the skin #Ichthyotic skin\n", + " definition of HP:0008064 (Ichthyosis)\n", + " \n", + " \n", + " Widened subarachnoid space\n", + " definition of HP:0012704 (Widened subarachnoid space)\n", + " \n", + " \n", + " An increase in size of the anatomic space between the arachnoid membrane and pia mater.\n", + " definition of HP:0012704 (Widened subarachnoid space)\n", + " \n", + " \n", + " #Enlarged subarachnoid space\n", + " definition of HP:0012704 (Widened subarachnoid space)\n", + " \n", + " \n", + " Abnormality of infra-orbital nerve\n", + " definition of HP:3000061 (Abnormality of infra-orbital nerve)\n", + " \n", + " \n", + " A structural abnormality of an infra-orbital nerve. The infraorbital nerve arises from the maxillary branch of the trigeminal nerve and normally traverses the orbital floor in the infraorbital canal.\n", + " definition of HP:3000061 (Abnormality of infra-orbital nerve)\n", + " \n", + " \n", + " #Abnormality of the infraorbital nerve\n", + " definition of HP:3000061 (Abnormality of infra-orbital nerve)\n", + " \n", + " \n", + " Extrahepatic cholestasis\n", + " definition of HP:0012334 (Extrahepatic cholestasis)\n", + " \n", + " \n", + " Impairment of bile flow due to obstruction in large bile ducts outside the liver.\n", + " definition of HP:0012334 (Extrahepatic cholestasis)\n", + " \n", + " \n", + " Impaired renal tubular reabsorption of bicarbonate\n", + " definition of HP:4000010 (Impaired renal tubular reabsorption of bicarbonate)\n", + " \n", + " \n", + " Decreased renal tubular reabsorption of bicarbonate.\n", + " definition of HP:4000010 (Impaired renal tubular reabsorption of bicarbonate)\n", + " \n", + " \n", + " Small hand\n", + " definition of HP:0200055 (Small hand)\n", + " \n", + " \n", + " Disproportionately small hand.\n", + " definition of HP:0200055 (Small hand)\n", + " \n", + " \n", + " #Disproportionately small hands #Small hand\n", + " definition of HP:0200055 (Small hand)\n", + " \n", + " \n", + " Exacerbated by opiate medication\n", + " definition of HP:6000634 (Exacerbated by opiate medication)\n", + " \n", + " \n", + " Applied to a sign orr symptom that is worsed by administration of opiate medications.\n", + " definition of HP:6000634 (Exacerbated by opiate medication)\n", + " \n", + " \n", + " Metachromatic intraneuronal lipid deposits\n", + " definition of HP:6000079 (Metachromatic intraneuronal lipid deposits)\n", + " \n", + " \n", + " A type of metachromasia localized to a peripheral nerve. Metachromasia may be defined as the staining of tissue or tissue components such that the color of the tissue-bound dye complex differs significantly from the color of the original dye complex to give a marked contrast in color. For instance in metachromatic leukodystrophy, bloated Schwann cells, containing granularmetachromatic storage material May display a characteristic yellow green dichroism under crossed polarised light.\n", + " definition of HP:6000079 (Metachromatic intraneuronal lipid deposits)\n", + " \n", + " \n", + " #Peripheral nerve metachromasia\n", + " definition of HP:6000079 (Metachromatic intraneuronal lipid deposits)\n", + " \n", + " \n", + " Thyroid macrofollicular adenoma\n", + " definition of HP:0011775 (Thyroid macrofollicular adenoma)\n", + " \n", + " \n", + " Abnormal circulating UDP glucose-4-epimerase concentration\n", + " definition of HP:0410193 (Abnormal circulating UDP glucose-4-epimerase concentration)\n", + " \n", + " \n", + " An abnormality in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.\n", + " definition of HP:0410193 (Abnormal circulating UDP glucose-4-epimerase concentration)\n", + " \n", + " \n", + " #Abnormal circulating uridine diphosphate glucose-4-epimerase concentration #Abnormal UDP-glucose 4-epimerase activity level in plasma #Abnormal uridine diphosphate glucose-4-epimerase level in plasma\n", + " definition of HP:0410193 (Abnormal circulating UDP glucose-4-epimerase concentration)\n", + " \n", + " \n", + " Cerebral venous angioma\n", + " definition of HP:0012481 (Cerebral venous angioma)\n", + " \n", + " \n", + " A congenital malformation of veins which drain normal brain characterized by a caput medusae or an umbrellalike convergence of multiple venules on a single, or occasionally multiple, enlarged parenchymal or medullary vein, like the trunk of a tree or the shank of an umbrella. This dilated terminal vein penetrates the cortex to drain either (a) superficially to cortical veins or sinuses, (b) deeply to subependymal veins of the lateral ventricle and then into the galenic system, (c) to the fourth ventricle and then to the pontomesencephalic vein, or (d) to the precentral cerebellar vein and into the galenic system.\n", + " definition of HP:0012481 (Cerebral venous angioma)\n", + " \n", + " \n", + " #Developmental Venous Anomaly\n", + " definition of HP:0012481 (Cerebral venous angioma)\n", + " \n", + " \n", + " Medially sloping radial metaphysis\n", + " definition of HP:0004024 (Medially sloping radial metaphysis)\n", + " \n", + " \n", + " Spinal meningioma\n", + " definition of HP:0100010 (Spinal meningioma)\n", + " \n", + " \n", + " Short digit\n", + " definition of HP:0011927 (Short digit)\n", + " \n", + " \n", + " One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened.\n", + " definition of HP:0011927 (Short digit)\n", + " \n", + " \n", + " #Short digit\n", + " definition of HP:0011927 (Short digit)\n", + " \n", + " \n", + " Increased C-peptide level\n", + " definition of HP:0030796 (Increased C-peptide level)\n", + " \n", + " \n", + " An elevated concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with increased insulin secretion.\n", + " definition of HP:0030796 (Increased C-peptide level)\n", + " \n", + " \n", + " #Increased C peptide level\n", + " definition of HP:0030796 (Increased C-peptide level)\n", + " \n", + " \n", + " Absent nasal septal cartilage\n", + " definition of HP:0005273 (Absent nasal septal cartilage)\n", + " \n", + " \n", + " Lack of the cartilage of the nasal septum.\n", + " definition of HP:0005273 (Absent nasal septal cartilage)\n", + " \n", + " \n", + " #Absent nasal septal cartilage #Absent nasal septum #Ageneis of nasal septal cartilage\n", + " definition of HP:0005273 (Absent nasal septal cartilage)\n", + " \n", + " \n", + " Abnormal nail attachment\n", + " definition of HP:0025756 (Abnormal nail attachment)\n", + " \n", + " \n", + " An anomaly of the connection of the nail to the nailbed.\n", + " definition of HP:0025756 (Abnormal nail attachment)\n", + " \n", + " \n", + " Tooth avulsion\n", + " definition of HP:0034415 (Tooth avulsion)\n", + " \n", + " \n", + " A type of dental trauma characterized by total dislocation of the tooth from its socket.\n", + " definition of HP:0034415 (Tooth avulsion)\n", + " \n", + " \n", + " #Avulsed tooth #Teeth: avulsion\n", + " definition of HP:0034415 (Tooth avulsion)\n", + " \n", + " \n", + " Duplication of thumb phalanx\n", + " definition of HP:0009942 (Duplication of thumb phalanx)\n", + " \n", + " \n", + " Complete or partial duplication of the phalanges of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones (bifid), two separate bones appearing side to side, or completely duplicated phalanges (proximal and distal phalanx of the thumb and/or 1st metacarpal). In contrast to the phalanges of the digits 2-5 (proximal, middle and distal), the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.\n", + " definition of HP:0009942 (Duplication of thumb phalanx)\n", + " \n", + " \n", + " #Complete/partial duplication of phalanges of the thumb #Duplicated thumbs #Duplication of phalanx of thumb\n", + " definition of HP:0009942 (Duplication of thumb phalanx)\n", + " \n", + " \n", + " Overfolded helix\n", + " definition of HP:0000396 (Overfolded helix)\n", + " \n", + " \n", + " A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear.\n", + " definition of HP:0000396 (Overfolded helix)\n", + " \n", + " \n", + " #Over-folded helices #Overfolded ears #Overfolded helices\n", + " definition of HP:0000396 (Overfolded helix)\n", + " \n", + " \n", + " Adenocarcinoma of the large intestine\n", + " definition of HP:0040275 (Adenocarcinoma of the large intestine)\n", + " \n", + " \n", + " A malignant epithelial tumor with a glandular organization that originates in the large intestine.\n", + " definition of HP:0040275 (Adenocarcinoma of the large intestine)\n", + " \n", + " \n", + " Pulmonary sequestration\n", + " definition of HP:0100632 (Pulmonary sequestration)\n", + " \n", + " \n", + " The presence of a piece lung tissue which is not attached to the pulmonary blood supply and does not communicate with the other lung tissue (not connected to the standard bronchial airways and not performing a function in respiration).\n", + " definition of HP:0100632 (Pulmonary sequestration)\n", + " \n", + " \n", + " #Bronchopulmonary sequestration\n", + " definition of HP:0100632 (Pulmonary sequestration)\n", + " \n", + " \n", + " Curved phalanges of the 5th finger\n", + " definition of HP:0004214 (Curved phalanges of the 5th finger)\n", + " \n", + " \n", + " Curved phalanges of the 5th (little) finger.\n", + " definition of HP:0004214 (Curved phalanges of the 5th finger)\n", + " \n", + " \n", + " #Curved little finger bone #Curved pinkie finger bone #Curved pinky finger bone\n", + " definition of HP:0004214 (Curved phalanges of the 5th finger)\n", + " \n", + " \n", + " History of undercooked pork ingestion\n", + " definition of HP:6000727 (History of undercooked pork ingestion)\n", + " \n", + " \n", + " A history of ingestion of undercooked pork. This is particularly relevant in areas with a high prevalence of cysticercosis.\n", + " definition of HP:6000727 (History of undercooked pork ingestion)\n", + " \n", + " \n", + " Abnormality of the epiphysis of the femoral head\n", + " definition of HP:0010574 (Abnormality of the epiphysis of the femoral head)\n", + " \n", + " \n", + " Any abnormality of the proximal epiphysis of the femur.\n", + " definition of HP:0010574 (Abnormality of the epiphysis of the femoral head)\n", + " \n", + " \n", + " #Abnormality of the end part of the innermost thighbone #Abnormality of the proximal femoral epiphysis\n", + " definition of HP:0010574 (Abnormality of the epiphysis of the femoral head)\n", + " \n", + " \n", + " Foveal intraretinal hyporeflective spaces on macular OCT\n", + " definition of HP:0030626 (Foveal intraretinal hyporeflective spaces on macular OCT)\n", + " \n", + " \n", + " Pilonidal sinus\n", + " definition of HP:0010769 (Pilonidal sinus)\n", + " \n", + " \n", + " A sinus in the coccygeal region (the region of the intergluteal cleft). A pilonidal sinus often contains hair and skin debris.\n", + " definition of HP:0010769 (Pilonidal sinus)\n", + " \n", + " \n", + " #Pilonidal cyst\n", + " definition of HP:0010769 (Pilonidal sinus)\n", + " \n", + " \n", + " Anterior uveitis\n", + " definition of HP:0012122 (Anterior uveitis)\n", + " \n", + " \n", + " Inflammation of the uveal tract in which the primary site of inflammation is the anterior chamber.\n", + " definition of HP:0012122 (Anterior uveitis)\n", + " \n", + " \n", + " Absent humeral epiphyseal ossification\n", + " definition of HP:0003892 (Absent humeral epiphyseal ossification)\n", + " \n", + " \n", + " Lack of formation of bone in the epiphysis of the humerus.\n", + " definition of HP:0003892 (Absent humeral epiphyseal ossification)\n", + " \n", + " \n", + " #Absent maturation of end part of long bone in upper arm #Absent ossification of the humeral epiphyses\n", + " definition of HP:0003892 (Absent humeral epiphyseal ossification)\n", + " \n", + " \n", + " Abnormal circulating deoxycorticosterone level\n", + " definition of HP:0031186 (Abnormal circulating deoxycorticosterone level)\n", + " \n", + " \n", + " An abnormality of the concentration of deoxycorticosterone in the blood. Deoxycorticosterone comprises 11-deoxycorticosterone and 21-deoxycorticosterone.\n", + " definition of HP:0031186 (Abnormal circulating deoxycorticosterone level)\n", + " \n", + " \n", + " Facial palsy\n", + " definition of HP:0010628 (Facial palsy)\n", + " \n", + " \n", + " Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.\n", + " definition of HP:0010628 (Facial palsy)\n", + " \n", + " \n", + " #Bell's palsy #Cranial nerve VII palsy #Facial nerve palsy #Facial nerve paralysis #Facial palsy, unilateral or bilateral #Seventh cranial nerve palsy #VII th cranial nerve palsy\n", + " definition of HP:0010628 (Facial palsy)\n", + " \n", + " \n", + " Enlarged interhemispheric fissure\n", + " definition of HP:0100953 (Enlarged interhemispheric fissure)\n", + " \n", + " \n", + " #Enlarged great longitudinal fissure #Enlarged longitudinal cerebral fissure #Enlarged longitudinal fissure\n", + " definition of HP:0100953 (Enlarged interhemispheric fissure)\n", + " \n", + " \n", + " Abnormal blood chloride concentration\n", + " definition of HP:0011422 (Abnormal blood chloride concentration)\n", + " \n", + " \n", + " An abnormality of chloride homeostasis or concentration in the body.\n", + " definition of HP:0011422 (Abnormal blood chloride concentration)\n", + " \n", + " \n", + " #Abnormal blood Cl concentration #Abnormal blood Cl- concentration #Abnormality of chloride homeostasis\n", + " definition of HP:0011422 (Abnormal blood chloride concentration)\n", + " \n", + " \n", + " Suprasellar arachnoid cyst\n", + " definition of HP:0012489 (Suprasellar arachnoid cyst)\n", + " \n", + " \n", + " An arachnoid cyst that progressively enlarges from an abnormality in the membrane of Liliequist or in the interpeduncular cistern, and typically, expands from the prepontine space, displacing the floor of the third ventricle upwards, the pituitary stalk and optic chiasm upwards and forwards, and the mammillary bodies upwards and backwards.\n", + " definition of HP:0012489 (Suprasellar arachnoid cyst)\n", + " \n", + " \n", + " Diffuse optic disc pallor\n", + " definition of HP:0012512 (Diffuse optic disc pallor)\n", + " \n", + " \n", + " A pale yellow discoloration of the entire optic disc.\n", + " definition of HP:0012512 (Diffuse optic disc pallor)\n", + " \n", + " \n", + " Bracket epiphysis of the proximal phalanx of the 4th finger\n", + " definition of HP:0009262 (Bracket epiphysis of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " An abnormality of the proximal phalanx of the fourth finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.\n", + " definition of HP:0009262 (Bracket epiphysis of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " #Bracket proximal epiphysis of the ring finger #Bracket shaped end part of the innermost bone of the ring finger\n", + " definition of HP:0009262 (Bracket epiphysis of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " Cervical instability\n", + " definition of HP:0008462 (Cervical instability)\n", + " \n", + " \n", + " Abnormality of renal excretion\n", + " definition of HP:0011036 (Abnormality of renal excretion)\n", + " \n", + " \n", + " An altered ability of the kidneys to void urine and/or specific substances.\n", + " definition of HP:0011036 (Abnormality of renal excretion)\n", + " \n", + " \n", + " Elevated urinary N-carbamyl-beta-aminoisobutyric acid level\n", + " definition of HP:6000623 (Elevated urinary N-carbamyl-beta-aminoisobutyric acid level)\n", + " \n", + " \n", + " The amount of N-carbamyl-beta-aminoisobutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000623 (Elevated urinary N-carbamyl-beta-aminoisobutyric acid level)\n", + " \n", + " \n", + " Mesomelia\n", + " definition of HP:0003027 (Mesomelia)\n", + " \n", + " \n", + " Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments.\n", + " definition of HP:0003027 (Mesomelia)\n", + " \n", + " \n", + " #Disproportionately short middle portion of limb #Mesomelic limb shortening #Mesomelic shortening of limbs #Symmetric mesomelic limb shortness\n", + " definition of HP:0003027 (Mesomelia)\n", + " \n", + " \n", + " Abnormal HDL2a concentration\n", + " definition of HP:0032419 (Abnormal HDL2a concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of the HDL2a subfraction in the blood circulation. An HDL2a particle is defined as an HDL particle with a size of 8.80-9.69 nm.\n", + " definition of HP:0032419 (Abnormal HDL2a concentration)\n", + " \n", + " \n", + " Abnormal endocrine physiology\n", + " definition of HP:0031072 (Abnormal endocrine physiology)\n", + " \n", + " \n", + " Any anomaly of the function of the endocrine system.\n", + " definition of HP:0031072 (Abnormal endocrine physiology)\n", + " \n", + " \n", + " Abnormality of zygomaticus minor muscle\n", + " definition of HP:3000020 (Abnormality of zygomaticus minor muscle)\n", + " \n", + " \n", + " An abnormality of a zygomaticus minor muscle.\n", + " definition of HP:3000020 (Abnormality of zygomaticus minor muscle)\n", + " \n", + " \n", + " Renal interstitial mononuclear cell infiltration\n", + " definition of HP:0032645 (Renal interstitial mononuclear cell infiltration)\n", + " \n", + " \n", + " Presence of interstitial mononuclear leukocytes, i.e., white blood ceclls with a single round nucleus, including lymphocytes and monocytes but not including granulocytes (which have multilobed nuclei).\n", + " definition of HP:0032645 (Renal interstitial mononuclear cell infiltration)\n", + " \n", + " \n", + " Multiple suture craniosynostosis\n", + " definition of HP:0011324 (Multiple suture craniosynostosis)\n", + " \n", + " \n", + " Craniosynostosis involving at least 2 cranial sutures, where the exact pattern of sutures fused has not been precisely specified.\n", + " definition of HP:0011324 (Multiple suture craniosynostosis)\n", + " \n", + " \n", + " #Multisutural craniosynostosis\n", + " definition of HP:0011324 (Multiple suture craniosynostosis)\n", + " \n", + " \n", + " Small epiphyses\n", + " definition of HP:0010585 (Small epiphyses)\n", + " \n", + " \n", + " Reduction in the size or volume of epiphyses.\n", + " definition of HP:0010585 (Small epiphyses)\n", + " \n", + " \n", + " #Small end part of bone\n", + " definition of HP:0010585 (Small epiphyses)\n", + " \n", + " \n", + " Hypoglutaminemia\n", + " definition of HP:0500147 (Hypoglutaminemia)\n", + " \n", + " \n", + " Decreased amount of glutamine in the blood.\n", + " definition of HP:0500147 (Hypoglutaminemia)\n", + " \n", + " \n", + " #Decreased blood glutamine concentration #Low blood glutamine level\n", + " definition of HP:0500147 (Hypoglutaminemia)\n", + " \n", + " \n", + " Hypospermatogenesis\n", + " definition of HP:0034813 (Hypospermatogenesis)\n", + " \n", + " \n", + " A morphological abnormality visible upon biopsy of the germinal epithelium of the testis in which the cellularity of the germinal epithelium is reduced in general, so that all stages of germ cells (spermatogonia, spermatocytes, and spermatids) are present but reduced in number. This term applies to biopsies with some tubules showing diminished amounts of qualitatively complete spermatogenesis in combination with a vast majority of tubules that lack germ cells.\n", + " definition of HP:0034813 (Hypospermatogenesis)\n", + " \n", + " \n", + " Widely spaced primary teeth\n", + " definition of HP:0006313 (Widely spaced primary teeth)\n", + " \n", + " \n", + " Increased space between the primary teeth. Note this phenotype should be distinguished from increased space due purely to microdontia.\n", + " definition of HP:0006313 (Widely spaced primary teeth)\n", + " \n", + " \n", + " #Generalised spacing of primary teeth #Generalized spacing of primary teeth #Wide gaps between baby teeth #Wide gaps between primary teeth #Widely spaced baby teeth #Widely spaced deciduous teeth #Widely spaced milk teeth\n", + " definition of HP:0006313 (Widely spaced primary teeth)\n", + " \n", + " \n", + " Bartholin gland carcinoma\n", + " definition of HP:0030419 (Bartholin gland carcinoma)\n", + " \n", + " \n", + " A cancer arising in a cell of the Bartholin gland, a racemose gland located slightly posterior to the opening of the vagina.\n", + " definition of HP:0030419 (Bartholin gland carcinoma)\n", + " \n", + " \n", + " Pierre-Robin sequence\n", + " definition of HP:0000201 (Pierre-Robin sequence)\n", + " \n", + " \n", + " Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate.\n", + " definition of HP:0000201 (Pierre-Robin sequence)\n", + " \n", + " \n", + " #Pierre Robin sequence #Pierre-robin anomaly #Pierre-robin deformity #Pierre-robin malformation #Robin sequence\n", + " definition of HP:0000201 (Pierre-Robin sequence)\n", + " \n", + " \n", + " Osteolytic defects of the middle phalanx of the 2nd finger\n", + " definition of HP:0009572 (Osteolytic defects of the middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " Dissolution or degeneration of bone tissue of the middle phalanx of the 2nd finger.\n", + " definition of HP:0009572 (Osteolytic defects of the middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Lytic defects of middle index finger phalanx\n", + " definition of HP:0009572 (Osteolytic defects of the middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " Testicular mesothelioma\n", + " definition of HP:0100005 (Testicular mesothelioma)\n", + " \n", + " \n", + " A Malignant mesothelioma of the testis.\n", + " definition of HP:0100005 (Testicular mesothelioma)\n", + " \n", + " \n", + " Scleral schwannoma\n", + " definition of HP:0100011 (Scleral schwannoma)\n", + " \n", + " \n", + " Night gasping\n", + " definition of HP:0031503 (Night gasping)\n", + " \n", + " \n", + " Waking up at night gasping for breath.\n", + " definition of HP:0031503 (Night gasping)\n", + " \n", + " \n", + " Gingivitis\n", + " definition of HP:0000230 (Gingivitis)\n", + " \n", + " \n", + " Inflammation of the gingiva.\n", + " definition of HP:0000230 (Gingivitis)\n", + " \n", + " \n", + " #Gingival inflammation #Inflamed gums #Red and swollen gums\n", + " definition of HP:0000230 (Gingivitis)\n", + " \n", + " \n", + " Hypoplastic sacrum\n", + " definition of HP:0004590 (Hypoplastic sacrum)\n", + " \n", + " \n", + " #Small sacrum\n", + " definition of HP:0004590 (Hypoplastic sacrum)\n", + " \n", + " \n", + " Onycholysis\n", + " definition of HP:0001806 (Onycholysis)\n", + " \n", + " \n", + " Detachment of the nail from the nail bed.\n", + " definition of HP:0001806 (Onycholysis)\n", + " \n", + " \n", + " #Detachment of nail #Oncholysis\n", + " definition of HP:0001806 (Onycholysis)\n", + " \n", + " \n", + " Glomerular hyaline pseudothrombus\n", + " definition of HP:0033293 (Glomerular hyaline pseudothrombus)\n", + " \n", + " \n", + " Intracapillary amorphous, eosinophilic material consisting of immune deposits.\n", + " definition of HP:0033293 (Glomerular hyaline pseudothrombus)\n", + " \n", + " \n", + " Muscle hypertrophy of the lower extremities\n", + " definition of HP:0008968 (Muscle hypertrophy of the lower extremities)\n", + " \n", + " \n", + " Muscle hypertrophy primarily affecting the legs.\n", + " definition of HP:0008968 (Muscle hypertrophy of the lower extremities)\n", + " \n", + " \n", + " Premature adrenarche\n", + " definition of HP:0012412 (Premature adrenarche)\n", + " \n", + " \n", + " Onset of adrenarche at an earlier age than usual.\n", + " definition of HP:0012412 (Premature adrenarche)\n", + " \n", + " \n", + " Hypoplastic iliac body\n", + " definition of HP:0008824 (Hypoplastic iliac body)\n", + " \n", + " \n", + " Underdevelopment of the body of ilium.\n", + " definition of HP:0008824 (Hypoplastic iliac body)\n", + " \n", + " \n", + " #Hypoplastic iliac bodies #Small iliac bodies\n", + " definition of HP:0008824 (Hypoplastic iliac body)\n", + " \n", + " \n", + " Hypoplastic 5th lumbar vertebrae\n", + " definition of HP:0008424 (Hypoplastic 5th lumbar vertebrae)\n", + " \n", + " \n", + " #Underdeveloped 5th lumbar vertebrae\n", + " definition of HP:0008424 (Hypoplastic 5th lumbar vertebrae)\n", + " \n", + " \n", + " Jejunal adenocarcinoma\n", + " definition of HP:0030411 (Jejunal adenocarcinoma)\n", + " \n", + " \n", + " A malignant epithelial tumor with a glandular organization that originates in the jejunum.\n", + " definition of HP:0030411 (Jejunal adenocarcinoma)\n", + " \n", + " \n", + " Perioral erythema\n", + " definition of HP:0033194 (Perioral erythema)\n", + " \n", + " \n", + " Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the mouth.\n", + " definition of HP:0033194 (Perioral erythema)\n", + " \n", + " \n", + " Underdeveloped supraorbital ridges\n", + " definition of HP:0009891 (Underdeveloped supraorbital ridges)\n", + " \n", + " \n", + " Flatness of the supraorbital portion of the frontal bones.\n", + " definition of HP:0009891 (Underdeveloped supraorbital ridges)\n", + " \n", + " \n", + " #Depressed supraorbital margins #Depressed supraorbital ridge #Flat supraorbital margins #Flat supraorbital ridge #Flattened bony protrusion above eyes #Hypoplasia of supraorbital margins #Hypoplasia of the supraorbital ridges #Hypoplastic supraorbital ridges #Shallow orbital ridges #Shallow supraorbital ridge\n", + " definition of HP:0009891 (Underdeveloped supraorbital ridges)\n", + " \n", + " \n", + " Renal salt wasting\n", + " definition of HP:0000127 (Renal salt wasting)\n", + " \n", + " \n", + " A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s).\n", + " definition of HP:0000127 (Renal salt wasting)\n", + " \n", + " \n", + " #Loss of salt in urine #Renal salt-wasting #Salt wasting #Salt-wasting\n", + " definition of HP:0000127 (Renal salt wasting)\n", + " \n", + " \n", + " Cauliflower deformity of dermal collagen fibrils\n", + " definition of HP:0031519 (Cauliflower deformity of dermal collagen fibrils)\n", + " \n", + " \n", + " An anomaly of collagen fibers of the skin that is said to resemble a cauliflower and can be appreciated by electron microscopy.\n", + " definition of HP:0031519 (Cauliflower deformity of dermal collagen fibrils)\n", + " \n", + " \n", + " Serpiginous cutaneous lesion\n", + " definition of HP:0025527 (Serpiginous cutaneous lesion)\n", + " \n", + " \n", + " A skin lesion with a snake- or serpent-like distribution.\n", + " definition of HP:0025527 (Serpiginous cutaneous lesion)\n", + " \n", + " \n", + " #Serpiginous eruption\n", + " definition of HP:0025527 (Serpiginous cutaneous lesion)\n", + " \n", + " \n", + " Microtropia without identity\n", + " definition of HP:0031782 (Microtropia without identity)\n", + " \n", + " \n", + " A type of microtropia in which the manifest movement is demonstrated on the cover-uncover test.\n", + " definition of HP:0031782 (Microtropia without identity)\n", + " \n", + " \n", + " Ectopic scrotum\n", + " definition of HP:0030275 (Ectopic scrotum)\n", + " \n", + " \n", + " Scrotum in a position other than the usual position inferior to the base of the penis.\n", + " definition of HP:0030275 (Ectopic scrotum)\n", + " \n", + " \n", + " #Abnormal scrotum position\n", + " definition of HP:0030275 (Ectopic scrotum)\n", + " \n", + " \n", + " Habitual mouth breathing\n", + " definition of HP:6000463 (Habitual mouth breathing)\n", + " \n", + " \n", + " A tendency to breathe through the mouth. Defined as over 25-30 percent of the air passing through the mouth instead of the nose, mouth breathing often occurs due to upper airway obstruction which reduces the nasal airflow and forces the air to enter completely or partially through oral cavity.\n", + " definition of HP:6000463 (Habitual mouth breathing)\n", + " \n", + " \n", + " EEG with generalized slow activity grade 2\n", + " definition of HP:0011207 (EEG with generalized slow activity grade 2)\n", + " \n", + " \n", + " Generalized slowing of EEG activity at frequencies between 4-7 Hz.\n", + " definition of HP:0011207 (EEG with generalized slow activity grade 2)\n", + " \n", + " \n", + " #EEG with generalised slow activity grade 2\n", + " definition of HP:0011207 (EEG with generalized slow activity grade 2)\n", + " \n", + " \n", + " Lymphoproliferative disorder\n", + " definition of HP:0005523 (Lymphoproliferative disorder)\n", + " \n", + " \n", + " Sleep onset rapid eye movement period\n", + " definition of HP:5200356 (Sleep onset rapid eye movement period)\n", + " \n", + " \n", + " Entering REM sleep immediately upon falling asleep.\n", + " definition of HP:5200356 (Sleep onset rapid eye movement period)\n", + " \n", + " \n", + " #Sleep-onset (REM) period #Sleep-onset rapid eye movement (REM) period #SOREMP\n", + " definition of HP:5200356 (Sleep onset rapid eye movement period)\n", + " \n", + " \n", + " Increased lymph-node epithelioid histiocyte count\n", + " definition of HP:0020239 (Increased lymph-node epithelioid histiocyte count)\n", + " \n", + " \n", + " Number of epithelioid histiocytes (histiocytes are tissue-resident macrophages) located within a lymph node above the upper limit of normal.\n", + " definition of HP:0020239 (Increased lymph-node epithelioid histiocyte count)\n", + " \n", + " \n", + " Thoracic aorta calcification\n", + " definition of HP:0004962 (Thoracic aorta calcification)\n", + " \n", + " \n", + " An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the thoracic aorta.\n", + " definition of HP:0004962 (Thoracic aorta calcification)\n", + " \n", + " \n", + " Decreased retinol-binding protein level\n", + " definition of HP:0031032 (Decreased retinol-binding protein level)\n", + " \n", + " \n", + " A reduced blood concentration of retinol-binding protein. This finding predicts vitamin A deficiency with high sensitivity and specificity.\n", + " definition of HP:0031032 (Decreased retinol-binding protein level)\n", + " \n", + " \n", + " Increased urinary galactosylated oligosaccharide\n", + " definition of HP:0410346 (Increased urinary galactosylated oligosaccharide)\n", + " \n", + " \n", + " An abnormal increase in the concentration of galactosylated oligosaccharides in urine.\n", + " definition of HP:0410346 (Increased urinary galactosylated oligosaccharide)\n", + " \n", + " \n", + " #Increased concentration of galactosylated oligosaccharides in urine\n", + " definition of HP:0410346 (Increased urinary galactosylated oligosaccharide)\n", + " \n", + " \n", + " Bracket epiphyses of the 2nd toe\n", + " definition of HP:0100045 (Bracket epiphyses of the 2nd toe)\n", + " \n", + " \n", + " #Bracket shaped end part of 2nd toe bone\n", + " definition of HP:0100045 (Bracket epiphyses of the 2nd toe)\n", + " \n", + " \n", + " Fetal subependymal hemorrhage\n", + " definition of HP:0034209 (Fetal subependymal hemorrhage)\n", + " \n", + " \n", + " A type of fetal intracranial hemorrhage located in the subependymal germinal matrix below the frontal horns of the lateral ventricles in the caudothalamic notch.\n", + " definition of HP:0034209 (Fetal subependymal hemorrhage)\n", + " \n", + " \n", + " #Grade I fetal intracranial hemorrhage #Grade I foetal intracranial haemorrhage\n", + " definition of HP:0034209 (Fetal subependymal hemorrhage)\n", + " \n", + " \n", + " Tearfulness\n", + " definition of HP:0033705 (Tearfulness)\n", + " \n", + " \n", + " A feeling of sadness characterized by episodes of crying that can occur suddenly and are not easily controlled in social situations.\n", + " definition of HP:0033705 (Tearfulness)\n", + " \n", + " \n", + " #Crying episodes\n", + " definition of HP:0033705 (Tearfulness)\n", + " \n", + " \n", + " Increased proportion of plasmablasts\n", + " definition of HP:0032128 (Increased proportion of plasmablasts)\n", + " \n", + " \n", + " An elevation above the normal proportion of plasmablasts in circulation relative to total number of B cells.\n", + " definition of HP:0032128 (Increased proportion of plasmablasts)\n", + " \n", + " \n", + " Congenital encephalopathy\n", + " definition of HP:0007239 (Congenital encephalopathy)\n", + " \n", + " \n", + " Flared lower limb metaphysis\n", + " definition of HP:0030307 (Flared lower limb metaphysis)\n", + " \n", + " \n", + " The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the leg.\n", + " definition of HP:0030307 (Flared lower limb metaphysis)\n", + " \n", + " \n", + " #Flared metaphysis of lower limb bone\n", + " definition of HP:0030307 (Flared lower limb metaphysis)\n", + " \n", + " \n", + " Forearm\n", + " definition of HP:6000299 (Forearm)\n", + " \n", + " \n", + " An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the forearm.\n", + " definition of HP:6000299 (Forearm)\n", + " \n", + " \n", + " Abnormality of humoral immunity\n", + " definition of HP:0005368 (Abnormality of humoral immunity)\n", + " \n", + " \n", + " An abnormality of the humoral immune system, which comprises antibodies produced by B cells as well as the complement system.\n", + " definition of HP:0005368 (Abnormality of humoral immunity)\n", + " \n", + " \n", + " #Defective humoral immunity\n", + " definition of HP:0005368 (Abnormality of humoral immunity)\n", + " \n", + " \n", + " Hypnagogic sleep paralysis\n", + " definition of HP:5200352 (Hypnagogic sleep paralysis)\n", + " \n", + " \n", + " Sleep paralysis that occurs when falling asleep.\n", + " definition of HP:5200352 (Hypnagogic sleep paralysis)\n", + " \n", + " \n", + " #Inability to move while falling asleep #Predormital sleep paralysis\n", + " definition of HP:5200352 (Hypnagogic sleep paralysis)\n", + " \n", + " \n", + " Dilated vestibule of the inner ear\n", + " definition of HP:0011379 (Dilated vestibule of the inner ear)\n", + " \n", + " \n", + " Dilatation of the vestibule of the inner ear.\n", + " definition of HP:0011379 (Dilated vestibule of the inner ear)\n", + " \n", + " \n", + " Yellow/white lesions of the retina\n", + " definition of HP:0030506 (Yellow/white lesions of the retina)\n", + " \n", + " \n", + " Fragmentation of the epiphysis of the distal phalanx of the 5th finger\n", + " definition of HP:0009166 (Fragmentation of the epiphysis of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " Fragmented appearance of the epiphysis of the distal phalanx of the 5th finger.\n", + " definition of HP:0009166 (Fragmentation of the epiphysis of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " #Fragmentation of end part of the outermost bone of little finger #Fragmentation of end part of the outermost bone of pinkie finger #Fragmentation of end part of the outermost bone of pinky finger\n", + " definition of HP:0009166 (Fragmentation of the epiphysis of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " Spinal hypomyelination\n", + " definition of HP:0033846 (Spinal hypomyelination)\n", + " \n", + " \n", + " Reduced amount of myelin in the spinal cord resulting from defective myelinogenesis.\n", + " definition of HP:0033846 (Spinal hypomyelination)\n", + " \n", + " \n", + " Prominent metopic ridge\n", + " definition of HP:0005487 (Prominent metopic ridge)\n", + " \n", + " \n", + " Vertical bony ridge positioned in the midline of the forehead.\n", + " definition of HP:0005487 (Prominent metopic ridge)\n", + " \n", + " \n", + " #Prominent frontal ridge #Prominent metopic suture #Ridging of metopic suture\n", + " definition of HP:0005487 (Prominent metopic ridge)\n", + " \n", + " \n", + " Abnormal upper limb epiphysis morphology\n", + " definition of HP:0003839 (Abnormal upper limb epiphysis morphology)\n", + " \n", + " \n", + " #Abnormal shape of end part of upper limb long bones #Abnormality involving the epiphyses of the upper limbs #Abnormality of upper limb epiphysis morphology #Epihyseal plate abnormality of the upper limbs\n", + " definition of HP:0003839 (Abnormal upper limb epiphysis morphology)\n", + " \n", + " \n", + " Abnormal esophagus physiology\n", + " definition of HP:0025270 (Abnormal esophagus physiology)\n", + " \n", + " \n", + " Any physiological abnormality of the esophagus.\n", + " definition of HP:0025270 (Abnormal esophagus physiology)\n", + " \n", + " \n", + " #Abnormality of esophagus physiology #Abnormality of oesophagus physiology #Functional abnormality of the esophagus #Functional abnormality of the oesophagus\n", + " definition of HP:0025270 (Abnormal esophagus physiology)\n", + " \n", + " \n", + " Abnormality of the distal fibular epiphysis\n", + " definition of HP:0010595 (Abnormality of the distal fibular epiphysis)\n", + " \n", + " \n", + " Any abnormality of the distal epiphysis of the fibula.\n", + " definition of HP:0010595 (Abnormality of the distal fibular epiphysis)\n", + " \n", + " \n", + " #Abnormality of the outermost end part of calf bone\n", + " definition of HP:0010595 (Abnormality of the distal fibular epiphysis)\n", + " \n", + " \n", + " Elevated brain gamma-aminobutyric acid by MRS\n", + " definition of HP:0034895 (Elevated brain gamma-aminobutyric acid by MRS)\n", + " \n", + " \n", + " An increase in the level of gamma-aminobutyric acid (GABA) in the brain identified by magnetic resonance spectroscopy (MRS).\n", + " definition of HP:0034895 (Elevated brain gamma-aminobutyric acid by MRS)\n", + " \n", + " \n", + " #Elevated brain GABA by MRS\n", + " definition of HP:0034895 (Elevated brain gamma-aminobutyric acid by MRS)\n", + " \n", + " \n", + " Vascular dilatation\n", + " definition of HP:0002617 (Vascular dilatation)\n", + " \n", + " \n", + " Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart.\n", + " definition of HP:0002617 (Vascular dilatation)\n", + " \n", + " \n", + " #Aneurysmal dilatation #Wider than typical opening or gap\n", + " definition of HP:0002617 (Vascular dilatation)\n", + " \n", + " \n", + " Small epiphyses of the metacarpals\n", + " definition of HP:0009194 (Small epiphyses of the metacarpals)\n", + " \n", + " \n", + " Abnormally small size of the epiphyses located at the distal end of the metacarpals in respect to age-dependent norms.\n", + " definition of HP:0009194 (Small epiphyses of the metacarpals)\n", + " \n", + " \n", + " #Small end part of the long bone of hand\n", + " definition of HP:0009194 (Small epiphyses of the metacarpals)\n", + " \n", + " \n", + " Pulmonary bulla\n", + " definition of HP:0032446 (Pulmonary bulla)\n", + " \n", + " \n", + " Pulmonary bullae are rounded focal regions of emphysema with a thin wall which measure more than 1 cm in diameter. They are often subpleural in location and are typically larger in the apices. In some cases, bullae can be very large and result in compression of adjacent lung tissue. A giant bulla is arbitrarily defined as one that occupies at least one third of the volume of a hemithorax. When large, bullae can simulate pneumothorax. The most common cause is paraseptal emphysema but bullae may also be seen in association with centrilobular emphysema.\n", + " definition of HP:0032446 (Pulmonary bulla)\n", + " \n", + " \n", + " #Pulmonary bullae\n", + " definition of HP:0032446 (Pulmonary bulla)\n", + " \n", + " \n", + " Fractured metatarsal bone of digit 5\n", + " definition of HP:0041223 (Fractured metatarsal bone of digit 5)\n", + " \n", + " \n", + " A partial or complete breakage of the metatarsal bone of digit 5.\n", + " definition of HP:0041223 (Fractured metatarsal bone of digit 5)\n", + " \n", + " \n", + " #bone metatarsal bone of digit 5\n", + " definition of HP:0041223 (Fractured metatarsal bone of digit 5)\n", + " \n", + " \n", + " Cerebral cortical hemiatrophy\n", + " definition of HP:0100308 (Cerebral cortical hemiatrophy)\n", + " \n", + " \n", + " Atrophy of one side of the brain, characterized by findings including thinning of the cerebral cortex, reduced volume of the cerebral white matter with abnormal myelination, and enlargement of the ispilateral fourth ventricle.\n", + " definition of HP:0100308 (Cerebral cortical hemiatrophy)\n", + " \n", + " \n", + " Neurogenic claudication\n", + " definition of HP:0031952 (Neurogenic claudication)\n", + " \n", + " \n", + " Lumbar spinal stenoses may induce symptoms following an individually typical latency on standing or when walking due to swelling of the cauda equina, which leads to compression. This is referred to as neurogenic claudication. The symptoms of lumbar spinal stenosis can be explained by an increase in lumbar lordosis and spinal canal stenosis in an upright position compared to the sitting position or if spondylolisthesis is present by a shift of the vertebrae while standing and walking. Following an individually characteristic distance, walking becomes associated with deep muscular pain and with neurological deficits, such as sensory deficits and paresis in the lower limbs, which resolve within minutes when the affected person sits or lies down. Activities performed in a flexed posture, such as cycling often cause less problems than walking. For the same reason, walking uphill may be tolerated better than walking downhill. Clinical neurological examination at rest may be entirely normal but there is usually pain on hyperextension of the lumbar spine.\n", + " definition of HP:0031952 (Neurogenic claudication)\n", + " \n", + " \n", + " Mozart ear\n", + " definition of HP:0030677 (Mozart ear)\n", + " \n", + " \n", + " A congenital auricular deformity, which is mainly characterized by a bulging appearance of the anterosuperior portion of the auricle, a convexly protruded cavum conchae, and a slit-like narrowing of the orifice of the external auditory meatus.\n", + " definition of HP:0030677 (Mozart ear)\n", + " \n", + " \n", + " Abnormal left ventricular function\n", + " definition of HP:0005162 (Abnormal left ventricular function)\n", + " \n", + " \n", + " Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the inability to relax completely and fill with blood during diastole.\n", + " definition of HP:0005162 (Abnormal left ventricular function)\n", + " \n", + " \n", + " #Impaired left ventricular function #Left ventricular dysfunction #Left ventricular failure #Left ventricular impairment #Left-sided heart failure\n", + " definition of HP:0005162 (Abnormal left ventricular function)\n", + " \n", + " \n", + " Short palpebral fissure\n", + " definition of HP:0012745 (Short palpebral fissure)\n", + " \n", + " \n", + " Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures.\n", + " definition of HP:0012745 (Short palpebral fissure)\n", + " \n", + " \n", + " #Decreased height of palpebral fissure #Short opening between the eyelids #Short palpebral fissures\n", + " definition of HP:0012745 (Short palpebral fissure)\n", + " \n", + " \n", + " Fractured right clavicle\n", + " definition of HP:0041115 (Fractured right clavicle)\n", + " \n", + " \n", + " A partial or complete breakage of the right clavicle.\n", + " definition of HP:0041115 (Fractured right clavicle)\n", + " \n", + " \n", + " #bone right clavicle\n", + " definition of HP:0041115 (Fractured right clavicle)\n", + " \n", + " \n", + " Cerebral hypomyelination\n", + " definition of HP:0006808 (Cerebral hypomyelination)\n", + " \n", + " \n", + " Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system.\n", + " definition of HP:0006808 (Cerebral hypomyelination)\n", + " \n", + " \n", + " #Hypomyelination of the brain\n", + " definition of HP:0006808 (Cerebral hypomyelination)\n", + " \n", + " \n", + " Abnormal ejaculation\n", + " definition of HP:0012875 (Abnormal ejaculation)\n", + " \n", + " \n", + " Abnormality in the process of ejection of semen (usually carrying sperm) from the male reproductive tract.\n", + " definition of HP:0012875 (Abnormal ejaculation)\n", + " \n", + " \n", + " Symmetric spinal nerve root neurofibromas\n", + " definition of HP:0006851 (Symmetric spinal nerve root neurofibromas)\n", + " \n", + " \n", + " Multiple neurofibromas of the spinal nerve roots with a symmetric distribution.\n", + " definition of HP:0006851 (Symmetric spinal nerve root neurofibromas)\n", + " \n", + " \n", + " #Spinal nerve root neurofibromas, symmetric, multiple\n", + " definition of HP:0006851 (Symmetric spinal nerve root neurofibromas)\n", + " \n", + " \n", + " Vertebral hyperostosis\n", + " definition of HP:0008442 (Vertebral hyperostosis)\n", + " \n", + " \n", + " Excessive growth of the bones of the vertebral bodies.\n", + " definition of HP:0008442 (Vertebral hyperostosis)\n", + " \n", + " \n", + " Cleft mandible\n", + " definition of HP:0010752 (Cleft mandible)\n", + " \n", + " \n", + " Midline deficiency of the mandible and some or all overlying tissues.\n", + " definition of HP:0010752 (Cleft mandible)\n", + " \n", + " \n", + " #Cleft lower jaw #Mandibular cleft\n", + " definition of HP:0010752 (Cleft mandible)\n", + " \n", + " \n", + " Abnormal leukocyte enzyme concentration or activity\n", + " definition of HP:0034858 (Abnormal leukocyte enzyme concentration or activity)\n", + " \n", + " \n", + " Concentration or activity of an enzyme as measured in leukocytes is above or below the limits of normal.\n", + " definition of HP:0034858 (Abnormal leukocyte enzyme concentration or activity)\n", + " \n", + " \n", + " Elevated circulating aspartate aminotransferase to alanine aminotransferase ratio\n", + " definition of HP:6000813 (Elevated circulating aspartate aminotransferase to alanine aminotransferase ratio)\n", + " \n", + " \n", + " Aspartate aminotransferase to alanine aminotransferase ratio increased greater than 1.5.\n", + " definition of HP:6000813 (Elevated circulating aspartate aminotransferase to alanine aminotransferase ratio)\n", + " \n", + " \n", + " Macrodactyly\n", + " definition of HP:0004099 (Macrodactyly)\n", + " \n", + " \n", + " Significant increase in the length and girth of most or all of a digit compared to its contralateral digit (if unaffected) or compared to what would be expected for age/body build. The increased girth is accompanied by an increase in the dorso-ventral dimension AND the lateral dimension of the digit.\n", + " definition of HP:0004099 (Macrodactyly)\n", + " \n", + " \n", + " #Finger overgrowth #Megalodactyly\n", + " definition of HP:0004099 (Macrodactyly)\n", + " \n", + " \n", + " Impaired cytokine signaling\n", + " definition of HP:0031407 (Impaired cytokine signaling)\n", + " \n", + " \n", + " A defect or impairment in the series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription.\n", + " definition of HP:0031407 (Impaired cytokine signaling)\n", + " \n", + " \n", + " #Cytokine signaling defect #Cytokine signalling defect #Impaired cytokine signalling\n", + " definition of HP:0031407 (Impaired cytokine signaling)\n", + " \n", + " \n", + " Hypolipidemia\n", + " definition of HP:0045014 (Hypolipidemia)\n", + " \n", + " \n", + " Anti-SEZ6L2 antibody\n", + " definition of HP:5000032 (Anti-SEZ6L2 antibody)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against seizure-related 6 homolog like 2 (SEZ6L2).\n", + " definition of HP:5000032 (Anti-SEZ6L2 antibody)\n", + " \n", + " \n", + " Reduced amygdala volume\n", + " definition of HP:0025444 (Reduced amygdala volume)\n", + " \n", + " \n", + " A decrease in the volume (size) of the amygdyla.\n", + " definition of HP:0025444 (Reduced amygdala volume)\n", + " \n", + " \n", + " #Decrease in amygdala volume\n", + " definition of HP:0025444 (Reduced amygdala volume)\n", + " \n", + " \n", + " Tessier number 0 facial cleft\n", + " definition of HP:0031570 (Tessier number 0 facial cleft)\n", + " \n", + " \n", + " A Number 0 Tessier cleft is a true median cleft lip with a broad columella and bifid nasal tip. The alveolar cleft is between the central incisors. The nasal septum may be thickened, duplicated, or absent. The nasal bridge is usually broad with associated orbital hypertelorism. The midline soft tissue anomaly may range from a mild broadening of the philtrum or there may be a true median cleft lip. The columella and nasal tip are typically bifid and broadened with a midline depression. The alae nasi are intact but laterally displaced. The nose appears shortened in the vertical dimension.\n", + " definition of HP:0031570 (Tessier number 0 facial cleft)\n", + " \n", + " \n", + " #Tessier facial cleft number 0\n", + " definition of HP:0031570 (Tessier number 0 facial cleft)\n", + " \n", + " \n", + " Bony paranasal bossing\n", + " definition of HP:0004407 (Bony paranasal bossing)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the proximal phalanx of the 4th finger\n", + " definition of HP:0009300 (Aplasia/Hypoplasia of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " #Absent/small innermost ring finger bone #Absent/underdeveloped innermost ring finger bone\n", + " definition of HP:0009300 (Aplasia/Hypoplasia of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " Reye syndrome-like episodes\n", + " definition of HP:0006582 (Reye syndrome-like episodes)\n", + " \n", + " \n", + " Repeated occurrences of acute noninflammatory encephalopathy and fatty degenerative liver failure.\n", + " definition of HP:0006582 (Reye syndrome-like episodes)\n", + " \n", + " \n", + " Blake's pouch cyst\n", + " definition of HP:0033140 (Blake's pouch cyst)\n", + " \n", + " \n", + " The presence of an upwardly displaced normal cerebellar vermis, normal appearance of the fastigium, tentorium and size of the cisterna magna.\n", + " definition of HP:0033140 (Blake's pouch cyst)\n", + " \n", + " \n", + " Diffuse skin atrophy\n", + " definition of HP:0007488 (Diffuse skin atrophy)\n", + " \n", + " \n", + " EEG with temporal epileptiform discharges\n", + " definition of HP:0033717 (EEG with temporal epileptiform discharges)\n", + " \n", + " \n", + " Focal epileptiform EEG discharges recorded in the temporal region.\n", + " definition of HP:0033717 (EEG with temporal epileptiform discharges)\n", + " \n", + " \n", + " Testicular microlithiasis\n", + " definition of HP:0012215 (Testicular microlithiasis)\n", + " \n", + " \n", + " The deposition of calcium phosphate microliths within the seminiferous tubules.\n", + " definition of HP:0012215 (Testicular microlithiasis)\n", + " \n", + " \n", + " Type II transferrin isoform profile\n", + " definition of HP:0012301 (Type II transferrin isoform profile)\n", + " \n", + " \n", + " Abnormal transferrin isoform profile consistent with a type II congenital disorder of glycosylation.\n", + " definition of HP:0012301 (Type II transferrin isoform profile)\n", + " \n", + " \n", + " #Abnormal isoelectric focusing of serum transferrin, type II pattern #Isoelectric focusing of serum transferrin consistent with CDG type II #Type 2 transferrin isoform profile\n", + " definition of HP:0012301 (Type II transferrin isoform profile)\n", + " \n", + " \n", + " Rectilinear intracellular accumulation of autofluorescent lipopigment storage material\n", + " definition of HP:0003226 (Rectilinear intracellular accumulation of autofluorescent lipopigment storage material)\n", + " \n", + " \n", + " An intracellular accumulation of autofluorescent lipopigment storage material in a straight or rectilinear pattern.\n", + " definition of HP:0003226 (Rectilinear intracellular accumulation of autofluorescent lipopigment storage material)\n", + " \n", + " \n", + " #Rectilinear profiles ultrastructurally\n", + " definition of HP:0003226 (Rectilinear intracellular accumulation of autofluorescent lipopigment storage material)\n", + " \n", + " \n", + " Fractured facial bone\n", + " definition of HP:0041220 (Fractured facial bone)\n", + " \n", + " \n", + " A partial or complete breakage of the facial bone.\n", + " definition of HP:0041220 (Fractured facial bone)\n", + " \n", + " \n", + " #bone facial bone\n", + " definition of HP:0041220 (Fractured facial bone)\n", + " \n", + " \n", + " Procedural memory loss\n", + " definition of HP:0033691 (Procedural memory loss)\n", + " \n", + " \n", + " A reduction in the ability to retrieve information about how to perform activities, such as how to ride a bike or drive a car, how to perform activities of daily living, or how to play a musical instrument.\n", + " definition of HP:0033691 (Procedural memory loss)\n", + " \n", + " \n", + " #Impaired procedural memory #Procedural memory deficit\n", + " definition of HP:0033691 (Procedural memory loss)\n", + " \n", + " \n", + " Long palm\n", + " definition of HP:0011302 (Long palm)\n", + " \n", + " \n", + " For children from birth to 16 years of age the length of the palm is more than the 97th centile; or, the length of the palm appears relatively long compared to the finger length or the limb length.\n", + " definition of HP:0011302 (Long palm)\n", + " \n", + " \n", + " #Long palm\n", + " definition of HP:0011302 (Long palm)\n", + " \n", + " \n", + " Ventral hernia\n", + " definition of HP:0002933 (Ventral hernia)\n", + " \n", + " \n", + " Ventral hernia refers to a condition in which abdominal contents protrude through a weakened portion of the abdominal wall.\n", + " definition of HP:0002933 (Ventral hernia)\n", + " \n", + " \n", + " Fractured carpal bone\n", + " definition of HP:0041248 (Fractured carpal bone)\n", + " \n", + " \n", + " A partial or complete breakage of the carpal bone.\n", + " definition of HP:0041248 (Fractured carpal bone)\n", + " \n", + " \n", + " #bone carpal bone #Broken wrist #Carpal bone fracture #Fractured wrist #Wrist fracture\n", + " definition of HP:0041248 (Fractured carpal bone)\n", + " \n", + " \n", + " Anti-NMDA receptor antibody positivity\n", + " definition of HP:0032264 (Anti-NMDA receptor antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against the NMDA (N-methyl-D-aspartate)-type glutamate receptor.\n", + " definition of HP:0032264 (Anti-NMDA receptor antibody positivity)\n", + " \n", + " \n", + " #Presence of anti-N-methyl-D-aspartate Receptor antibody in blood #Presence of anti-NMDAR antibody in blood\n", + " definition of HP:0032264 (Anti-NMDA receptor antibody positivity)\n", + " \n", + " \n", + " Caudal interpedicular narrowing\n", + " definition of HP:0008457 (Caudal interpedicular narrowing)\n", + " \n", + " \n", + " Narrowing (becoming gradually narrower) of the distance between vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column. Note that normally, the interpedicular distances get progressively wider as one proceeds down the spine.\n", + " definition of HP:0008457 (Caudal interpedicular narrowing)\n", + " \n", + " \n", + " #Caudal narrowing of interpedicular distances\n", + " definition of HP:0008457 (Caudal interpedicular narrowing)\n", + " \n", + " \n", + " Constipation\n", + " definition of HP:0002019 (Constipation)\n", + " \n", + " \n", + " Infrequent or difficult evacuation of feces.\n", + " definition of HP:0002019 (Constipation)\n", + " \n", + " \n", + " #Constipation #Costiveness #Dyschezia\n", + " definition of HP:0002019 (Constipation)\n", + " \n", + " \n", + " CSF oligoclonal immunoglobulin G bands\n", + " definition of HP:6000397 (CSF oligoclonal immunoglobulin G bands)\n", + " \n", + " \n", + " Oligoclonal immunoglobulin G (IgG) bands (OCBs) are a useful diagnostic tool to detect a central humoral response. In particular, cerebrospinal fluid (CSF)-restricted OCBs represent a hallmark of multiple sclerosis (MS).\n", + " definition of HP:6000397 (CSF oligoclonal immunoglobulin G bands)\n", + " \n", + " \n", + " Hypopigmentation of the skin\n", + " definition of HP:0001010 (Hypopigmentation of the skin)\n", + " \n", + " \n", + " A reduction of skin color related to a decrease in melanin production and deposition.\n", + " definition of HP:0001010 (Hypopigmentation of the skin)\n", + " \n", + " \n", + " #Hypopigmentation #Hypopigmented skin #Patchy lightened skin\n", + " definition of HP:0001010 (Hypopigmentation of the skin)\n", + " \n", + " \n", + " Neonatal focal myoclonic seizure\n", + " definition of HP:0032817 (Neonatal focal myoclonic seizure)\n", + " \n", + " \n", + " Neonatal focal myoclonic seizure is a type of neonatal electro-clinical motor seizure where the predominant motor feature is sudden, brief (<100 msec) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal) which occurs focally.\n", + " definition of HP:0032817 (Neonatal focal myoclonic seizure)\n", + " \n", + " \n", + " Panic attack\n", + " definition of HP:0025269 (Panic attack)\n", + " \n", + " \n", + " A sudden episode of intense fear in a situation where there is no danger or apparent cause.\n", + " definition of HP:0025269 (Panic attack)\n", + " \n", + " \n", + " #Panic attack\n", + " definition of HP:0025269 (Panic attack)\n", + " \n", + " \n", + " Multifocal sub-RPE deposits\n", + " definition of HP:0031533 (Multifocal sub-RPE deposits)\n", + " \n", + " \n", + " Deposits accumulating between the retinal pigment epithelium and Bruch's membrane and that are distributed in multiple foci.\n", + " definition of HP:0031533 (Multifocal sub-RPE deposits)\n", + " \n", + " \n", + " Abnormality of secondary sexual hair\n", + " definition of HP:0009888 (Abnormality of secondary sexual hair)\n", + " \n", + " \n", + " Abnormality of the growth of secondary sexual hair, which normally ensues during puberty. In males, secondary sexual hair usually comprises body hair, including underarm, abdominal, chest, and pubic hair. In females, secondary sexual hair usually comprises a lesser degree of body hair, most prominently underarm and pubic hair.\n", + " definition of HP:0009888 (Abnormality of secondary sexual hair)\n", + " \n", + " \n", + " #Abnormality of secondary sexual hair\n", + " definition of HP:0009888 (Abnormality of secondary sexual hair)\n", + " \n", + " \n", + " CSF hemophagocytosis\n", + " definition of HP:0034798 (CSF hemophagocytosis)\n", + " \n", + " \n", + " Phagocytosis of erythrocytes, lymphocytes or other hematopoietic precursors by histiocytes or macrophages observed in the cerebrospinal fluid (CSF).\n", + " definition of HP:0034798 (CSF hemophagocytosis)\n", + " \n", + " \n", + " #Hemophagocytosis in CSF\n", + " definition of HP:0034798 (CSF hemophagocytosis)\n", + " \n", + " \n", + " Hypertaurinemia\n", + " definition of HP:0500181 (Hypertaurinemia)\n", + " \n", + " \n", + " An increased amount of taurine in the blood.\n", + " definition of HP:0500181 (Hypertaurinemia)\n", + " \n", + " \n", + " #Elevated serum taurine levels #Increased circulating taurine levels in the blood\n", + " definition of HP:0500181 (Hypertaurinemia)\n", + " \n", + " \n", + " Ectrodactyly\n", + " definition of HP:0100257 (Ectrodactyly)\n", + " \n", + " \n", + " A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet.\n", + " definition of HP:0100257 (Ectrodactyly)\n", + " \n", + " \n", + " #Cleft hand #Lobster claw hand\n", + " definition of HP:0100257 (Ectrodactyly)\n", + " \n", + " \n", + " Progressive spasticity\n", + " definition of HP:0002191 (Progressive spasticity)\n", + " \n", + " \n", + " Spasticity that increases in degree with time.\n", + " definition of HP:0002191 (Progressive spasticity)\n", + " \n", + " \n", + " #Spasticity, progressive\n", + " definition of HP:0002191 (Progressive spasticity)\n", + " \n", + " \n", + " Alexia\n", + " definition of HP:0010523 (Alexia)\n", + " \n", + " \n", + " An acquired type of sensory aphasia where damage to the brain leads to the loss of the ability to read.\n", + " definition of HP:0010523 (Alexia)\n", + " \n", + " \n", + " #Text blindness #Word blindness\n", + " definition of HP:0010523 (Alexia)\n", + " \n", + " \n", + " Enlarged proximal interphalangeal joints\n", + " definition of HP:0006185 (Enlarged proximal interphalangeal joints)\n", + " \n", + " \n", + " #Enlarged innermost hinge joint\n", + " definition of HP:0006185 (Enlarged proximal interphalangeal joints)\n", + " \n", + " \n", + " Intratubular erythrocyte cast\n", + " definition of HP:0032625 (Intratubular erythrocyte cast)\n", + " \n", + " \n", + " Casts that contain red blood cells and are located within the tubuli of the kidney.\n", + " definition of HP:0032625 (Intratubular erythrocyte cast)\n", + " \n", + " \n", + " Parasite allergy\n", + " definition of HP:0410337 (Parasite allergy)\n", + " \n", + " \n", + " Hypersensitivity in form of an adverse immune reaction against parasites.\n", + " definition of HP:0410337 (Parasite allergy)\n", + " \n", + " \n", + " #Allergy to parasites #IgE-mediated parasite allergy #Immunoglobulin E-mediated parasite allergy #Parasite allergy\n", + " definition of HP:0410337 (Parasite allergy)\n", + " \n", + " \n", + " Basal encephalocele\n", + " definition of HP:0011817 (Basal encephalocele)\n", + " \n", + " \n", + " Basal encephalocele is an encephalocele that occurs along the cribriform plate or through the sphenoid bone. The mass may appear in the nasal cavity, nasopharynx, epipharynx, sphenoid sinus, posterior orbit, or pterygopalatine fossa. The important distinction from other types is that no external tumor is visible except in those rare instances of herniations so large that they protrude through the mouth or nares.\n", + " definition of HP:0011817 (Basal encephalocele)\n", + " \n", + " \n", + " Abnormality of renin-angiotensin system\n", + " definition of HP:0000847 (Abnormality of renin-angiotensin system)\n", + " \n", + " \n", + " An abnormality of the renin-angiotensin system.\n", + " definition of HP:0000847 (Abnormality of renin-angiotensin system)\n", + " \n", + " \n", + " #Abnormality of the renin-aldosterone axis\n", + " definition of HP:0000847 (Abnormality of renin-angiotensin system)\n", + " \n", + " \n", + " Aplasia of the distal phalanges of the hand\n", + " definition of HP:0009881 (Aplasia of the distal phalanges of the hand)\n", + " \n", + " \n", + " #Absent distal phalanges of the hand #Absent outermost hand bone #Aplasia of outermost hand bone\n", + " definition of HP:0009881 (Aplasia of the distal phalanges of the hand)\n", + " \n", + " \n", + " Vestibular schwannoma\n", + " definition of HP:0009588 (Vestibular schwannoma)\n", + " \n", + " \n", + " A vestibular schwannoma (also known as acoustic neuroma, acoustic neurinoma, or acoustic neurilemoma) is a benign, usually slow-growing tumor that develops from the VIIIth cranial nerve supplying the inner ear.\n", + " definition of HP:0009588 (Vestibular schwannoma)\n", + " \n", + " \n", + " #Acoustic Neuroma #Vestibular neurilemmoma #Vestibular neurinoma #Vestibular neurolemmoma #Vestibular Schwann cell tumor #Vestibular Schwann cell tumour\n", + " definition of HP:0009588 (Vestibular schwannoma)\n", + " \n", + " \n", + " Abnormal natural killer cell physiology\n", + " definition of HP:0012177 (Abnormal natural killer cell physiology)\n", + " \n", + " \n", + " A functional anomaly of the natural killer cell.\n", + " definition of HP:0012177 (Abnormal natural killer cell physiology)\n", + " \n", + " \n", + " Decreased HDL3c concentration\n", + " definition of HP:0032433 (Decreased HDL3c concentration)\n", + " \n", + " \n", + " A reduction below the normal concentration of the HDL3c subfraction in the blood circulation. An HDL3c particle is defined as an HDL particle with a size of 7.20-7.79 nm.\n", + " definition of HP:0032433 (Decreased HDL3c concentration)\n", + " \n", + " \n", + " Complete duplication of the proximal phalanx of the 2nd toe\n", + " definition of HP:0010422 (Complete duplication of the proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Complete duplication of proximal phalanx of second toe.\n", + " definition of HP:0010422 (Complete duplication of the proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Complete duplication of the innermost 2nd toe bone #Complete duplication of the proximal phalanx of the second toe\n", + " definition of HP:0010422 (Complete duplication of the proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Pulmonary interstitial thickening\n", + " definition of HP:0033711 (Pulmonary interstitial thickening)\n", + " \n", + " \n", + " Pathological thickening of the pulmonary interstitium visualized radiographically and divided into interlobular and intralobular septal thickening.\n", + " definition of HP:0033711 (Pulmonary interstitial thickening)\n", + " \n", + " \n", + " Decreased urinary neopterin level\n", + " definition of HP:0040420 (Decreased urinary neopterin level)\n", + " \n", + " \n", + " The amount of neopterin in the urine, normalized for urine concentration, is below the lower limit of normal.\n", + " definition of HP:0040420 (Decreased urinary neopterin level)\n", + " \n", + " \n", + " History of urethral procedure or catheterization\n", + " definition of HP:6000086 (History of urethral procedure or catheterization)\n", + " \n", + " \n", + " A past medical history of a procedure or catheterization involving the urethra.\n", + " definition of HP:6000086 (History of urethral procedure or catheterization)\n", + " \n", + " \n", + " Decreased serum estrone\n", + " definition of HP:0025140 (Decreased serum estrone)\n", + " \n", + " \n", + " A reduction below normal limits of the concentration of estrone in the circulation.\n", + " definition of HP:0025140 (Decreased serum estrone)\n", + " \n", + " \n", + " Triangular shaped distal phalanx of the 2nd finger\n", + " definition of HP:0009564 (Triangular shaped distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Triangular shaped distal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.\n", + " definition of HP:0009564 (Triangular shaped distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Triangular shaped outermost bone of the 2nd finger\n", + " definition of HP:0009564 (Triangular shaped distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Abnormal QRS voltage\n", + " definition of HP:0025076 (Abnormal QRS voltage)\n", + " \n", + " \n", + " Abnormal amplitude of the QRS complex of the electrocardiogram (EKG).\n", + " definition of HP:0025076 (Abnormal QRS voltage)\n", + " \n", + " \n", + " Synovial chondromatosis of the elbow\n", + " definition of HP:0003942 (Synovial chondromatosis of the elbow)\n", + " \n", + " \n", + " Short phalanx of finger\n", + " definition of HP:0009803 (Short phalanx of finger)\n", + " \n", + " \n", + " Short (hypoplastic) phalanx of finger, affecting one or more phalanges.\n", + " definition of HP:0009803 (Short phalanx of finger)\n", + " \n", + " \n", + " #Hypoplastic phalanges #Hypoplastic phalanges of hands #Hypoplastic/small phalanges of the hand #Phalangeal hypoplasia #Rudimentary phalanges #Short finger bones #Short phalanges #Shortened phalanges\n", + " definition of HP:0009803 (Short phalanx of finger)\n", + " \n", + " \n", + " Reduced muscle collagen VI\n", + " definition of HP:0030095 (Reduced muscle collagen VI)\n", + " \n", + " \n", + " A decreased amount of collagen VI in muscle tissue. Collagen VI is a primarily associated with the extracellular matrix of skeletal muscle.\n", + " definition of HP:0030095 (Reduced muscle collagen VI)\n", + " \n", + " \n", + " #Reduced collagen 6 in muscle #Reduced collagen VI immunolabeling in muscle biopsy\n", + " definition of HP:0030095 (Reduced muscle collagen VI)\n", + " \n", + " \n", + " Epicanthus palpebralis\n", + " definition of HP:0031770 (Epicanthus palpebralis)\n", + " \n", + " \n", + " A type of epicanthus in which a medial vertical fold is present between upper and lower lids.\n", + " definition of HP:0031770 (Epicanthus palpebralis)\n", + " \n", + " \n", + " Elevated CSF cholestanol concentration\n", + " definition of HP:6000203 (Elevated CSF cholestanol concentration)\n", + " \n", + " \n", + " The concentration of cholestanol in the cerebrospinal fluid (CSF) is above the upper limit of normal. Cholestanol is the 5-alpha-dihydro derivative of cholesterol.\n", + " definition of HP:6000203 (Elevated CSF cholestanol concentration)\n", + " \n", + " \n", + " #Elevated CSF cholestanol\n", + " definition of HP:6000203 (Elevated CSF cholestanol concentration)\n", + " \n", + " \n", + " Cross bite\n", + " definition of HP:0033792 (Cross bite)\n", + " \n", + " \n", + " Lingual occlusion of buccal cusps and/or incisal edge of maxillary teeth to the buccal cusps and/or incisal edge of mandibular teeth.\n", + " definition of HP:0033792 (Cross bite)\n", + " \n", + " \n", + " Positive bloodstream parainfluenza virus nucleic acid test\n", + " definition of HP:6000738 (Positive bloodstream parainfluenza virus nucleic acid test)\n", + " \n", + " \n", + " Detection of nucleic acid of parainfluenza virus in the blood circulation by a methiod such as polymerase chain reaction (PCR).\n", + " definition of HP:6000738 (Positive bloodstream parainfluenza virus nucleic acid test)\n", + " \n", + " \n", + " Ovotestis\n", + " definition of HP:0012861 (Ovotestis)\n", + " \n", + " \n", + " A gonad that contains both ovarian follicles and testicular tubular elements.\n", + " definition of HP:0012861 (Ovotestis)\n", + " \n", + " \n", + " Complete duplication of the middle phalanges of the hand\n", + " definition of HP:0010002 (Complete duplication of the middle phalanges of the hand)\n", + " \n", + " \n", + " A complete duplication affecting one or more of the middle phalanges of the hand. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a pseudoepiphysis (see corresponding terms) sometimes also referred to as hyperphalangism.\n", + " definition of HP:0010002 (Complete duplication of the middle phalanges of the hand)\n", + " \n", + " \n", + " #Complete duplication of the middle bones of the hand\n", + " definition of HP:0010002 (Complete duplication of the middle phalanges of the hand)\n", + " \n", + " \n", + " Arm dystonia\n", + " definition of HP:0031960 (Arm dystonia)\n", + " \n", + " \n", + " A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the arms.\n", + " definition of HP:0031960 (Arm dystonia)\n", + " \n", + " \n", + " Glomerulopathy\n", + " definition of HP:0100820 (Glomerulopathy)\n", + " \n", + " \n", + " Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron.\n", + " definition of HP:0100820 (Glomerulopathy)\n", + " \n", + " \n", + " #Diseased glomeruli\n", + " definition of HP:0100820 (Glomerulopathy)\n", + " \n", + " \n", + " Abnormal energy expenditure\n", + " definition of HP:0012338 (Abnormal energy expenditure)\n", + " \n", + " \n", + " Any anomaly in the utilization of energy (calories).\n", + " definition of HP:0012338 (Abnormal energy expenditure)\n", + " \n", + " \n", + " #Abnormal energy expenditure\n", + " definition of HP:0012338 (Abnormal energy expenditure)\n", + " \n", + " \n", + " Congenital kyphoscoliosis\n", + " definition of HP:0008453 (Congenital kyphoscoliosis)\n", + " \n", + " \n", + " Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal\n", + " definition of HP:0100486 (Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal)\n", + " \n", + " \n", + " #Fused innermost pinky toe bone with the 5th long bone of foot\n", + " definition of HP:0100486 (Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal)\n", + " \n", + " \n", + " Compression-fractured vertebra\n", + " definition of HP:0041085 (Compression-fractured vertebra)\n", + " \n", + " \n", + " A fracture of the vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging.\n", + " definition of HP:0041085 (Compression-fractured vertebra)\n", + " \n", + " \n", + " #Compression fractured vertebra #Wedge fractured vertebra\n", + " definition of HP:0041085 (Compression-fractured vertebra)\n", + " \n", + " \n", + " Symphalangism affecting the middle phalanx of the 3rd toe\n", + " definition of HP:0100470 (Symphalangism affecting the middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Fused middle bones of 3rd toe\n", + " definition of HP:0100470 (Symphalangism affecting the middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " Diminished breath sounds\n", + " definition of HP:4000214 (Diminished breath sounds)\n", + " \n", + " \n", + " A reduction in the intensity of the breath sound as ascertained by auscultation of the lung.\n", + " definition of HP:4000214 (Diminished breath sounds)\n", + " \n", + " \n", + " #Decreased breath sounds\n", + " definition of HP:4000214 (Diminished breath sounds)\n", + " \n", + " \n", + " Abnormal arachnoid mater morphology\n", + " definition of HP:0100700 (Abnormal arachnoid mater morphology)\n", + " \n", + " \n", + " An abnormality of the Arachnoid mater.\n", + " definition of HP:0100700 (Abnormal arachnoid mater morphology)\n", + " \n", + " \n", + " #Abnormality of the arachnoid mater #Abnormality of the arachnoidea\n", + " definition of HP:0100700 (Abnormal arachnoid mater morphology)\n", + " \n", + " \n", + " Urogenital fistula\n", + " definition of HP:0100589 (Urogenital fistula)\n", + " \n", + " \n", + " The presence of a fistula affecting the genitourinary system.\n", + " definition of HP:0100589 (Urogenital fistula)\n", + " \n", + " \n", + " Confetti hypopigmentation pattern of lower leg skin\n", + " definition of HP:0007554 (Confetti hypopigmentation pattern of lower leg skin)\n", + " \n", + " \n", + " #Confetti hypopigmentation pattern of lower leg skin\n", + " definition of HP:0007554 (Confetti hypopigmentation pattern of lower leg skin)\n", + " \n", + " \n", + " Abnormality of the tarsal bones\n", + " definition of HP:0001850 (Abnormality of the tarsal bones)\n", + " \n", + " \n", + " An abnormality of the tarsus are the cluster of seven bones in the foot between the tibia and fibula and the metatarsus, including the calcaneus (heel) bone and the talus (ankle) bone.\n", + " definition of HP:0001850 (Abnormality of the tarsal bones)\n", + " \n", + " \n", + " #Abnormal ankle bones #Abnormal tarsals\n", + " definition of HP:0001850 (Abnormality of the tarsal bones)\n", + " \n", + " \n", + " Avascular necrosis\n", + " definition of HP:0010885 (Avascular necrosis)\n", + " \n", + " \n", + " A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply.\n", + " definition of HP:0010885 (Avascular necrosis)\n", + " \n", + " \n", + " #Aseptic bone necrosis #Aseptic necrosis #Bone infarction #Death of bone due to decreased blood supply #Ischaemic bone necrosis #Ischemic bone necrosis #Osteochondronecrosis #Osteonecrosis\n", + " definition of HP:0010885 (Avascular necrosis)\n", + " \n", + " \n", + " Congenital extraocular muscle anomaly\n", + " definition of HP:0007647 (Congenital extraocular muscle anomaly)\n", + " \n", + " \n", + " Congenital abnormality of the extraocular muscles.\n", + " definition of HP:0007647 (Congenital extraocular muscle anomaly)\n", + " \n", + " \n", + " Symphalangism affecting the proximal phalanx of the 5th toe\n", + " definition of HP:0100475 (Symphalangism affecting the proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " #Fused innermost bone of little toe #Fused innermost bone of pinkie toe #Fused innermost bone of pinky toe\n", + " definition of HP:0100475 (Symphalangism affecting the proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " Increased blood pressure\n", + " definition of HP:0032263 (Increased blood pressure)\n", + " \n", + " \n", + " Abnormal increase in blood pressure. An individual measurement of increased blood pressure does not necessarily imply hypertension. In practical terms, multiple measurements are recommended to diagnose the presence of hypertension.\n", + " definition of HP:0032263 (Increased blood pressure)\n", + " \n", + " \n", + " #Increased BP\n", + " definition of HP:0032263 (Increased blood pressure)\n", + " \n", + " \n", + " Abnormality of nasal musculature\n", + " definition of HP:0430018 (Abnormality of nasal musculature)\n", + " \n", + " \n", + " An abnormality of the muscles of the structure of the nose.\n", + " definition of HP:0430018 (Abnormality of nasal musculature)\n", + " \n", + " \n", + " #Abnormality of muscle of nose #Abnormality of musculature of the nose #Abnormality of nasal musculature\n", + " definition of HP:0430018 (Abnormality of nasal musculature)\n", + " \n", + " \n", + " Broad xiphoid process\n", + " definition of HP:0100894 (Broad xiphoid process)\n", + " \n", + " \n", + " Increased side-to-side width of the xiphoid process of the sternum.\n", + " definition of HP:0100894 (Broad xiphoid process)\n", + " \n", + " \n", + " #Broad xiphisternum\n", + " definition of HP:0100894 (Broad xiphoid process)\n", + " \n", + " \n", + " Anti-sphingolipid antibody positivity\n", + " definition of HP:0034102 (Anti-sphingolipid antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against sphingolipids.\n", + " definition of HP:0034102 (Anti-sphingolipid antibody positivity)\n", + " \n", + " \n", + " Prolonged QTc interval\n", + " definition of HP:0005184 (Prolonged QTc interval)\n", + " \n", + " \n", + " A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations.\n", + " definition of HP:0005184 (Prolonged QTc interval)\n", + " \n", + " \n", + " Short 4th toe\n", + " definition of HP:0008093 (Short 4th toe)\n", + " \n", + " \n", + " Underdevelopment (hypoplasia) of the fourth toe.\n", + " definition of HP:0008093 (Short 4th toe)\n", + " \n", + " \n", + " #Short 4th toe #Short fourth toe\n", + " definition of HP:0008093 (Short 4th toe)\n", + " \n", + " \n", + " Pseudoepiphyses of the 3rd finger\n", + " definition of HP:0009417 (Pseudoepiphyses of the 3rd finger)\n", + " \n", + " \n", + " A secondary ossification center in the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.\n", + " definition of HP:0009417 (Pseudoepiphyses of the 3rd finger)\n", + " \n", + " \n", + " #Pseudoepiphyses of middle finger phalanges\n", + " definition of HP:0009417 (Pseudoepiphyses of the 3rd finger)\n", + " \n", + " \n", + " Pseudohyperkalemia\n", + " definition of HP:4000194 (Pseudohyperkalemia)\n", + " \n", + " \n", + " Pseudohyperkalemia describes a falsely elevated potassium level upon measurement of the serum electrolyte concentration due to disruption of cells during the collection or processing of the sample.\n", + " definition of HP:4000194 (Pseudohyperkalemia)\n", + " \n", + " \n", + " Decreased scrotal rugation\n", + " definition of HP:0012858 (Decreased scrotal rugation)\n", + " \n", + " \n", + " Decreased number or density of the folded ridges (wrinkles) of skin of the scrotum.\n", + " definition of HP:0012858 (Decreased scrotal rugation)\n", + " \n", + " \n", + " Agitation\n", + " definition of HP:0000713 (Agitation)\n", + " \n", + " \n", + " A state of excessive motor activity that is associated with mental distress or a feeling of substantial unease or inner tension. Distinguished from restlessness by the increased level of emotional distress and negative intensity of the experience. Agitation has a significant level of physical activity that is typically threatening to the self or others.\n", + " definition of HP:0000713 (Agitation)\n", + " \n", + " \n", + " #Psychomotor agitation\n", + " definition of HP:0000713 (Agitation)\n", + " \n", + " \n", + " Ivory epiphysis of the proximal phalanx of the 5th finger\n", + " definition of HP:0009157 (Ivory epiphysis of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " Sclerosis of the epiphysis of the proximal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.\n", + " definition of HP:0009157 (Ivory epiphysis of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " #Increased bone density of end part of the innermost bone of little finger #Increased bone density of end part of the innermost bone of pinkie finger #Increased bone density of end part of the innermost bone of pinky finger\n", + " definition of HP:0009157 (Ivory epiphysis of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " Moderate global developmental delay\n", + " definition of HP:0011343 (Moderate global developmental delay)\n", + " \n", + " \n", + " A moderate delay in the achievement of motor or mental milestones in the domains of development of a child.\n", + " definition of HP:0011343 (Moderate global developmental delay)\n", + " \n", + " \n", + " #Global developmental delay, moderate\n", + " definition of HP:0011343 (Moderate global developmental delay)\n", + " \n", + " \n", + " Aplasia of the distal phalanx of the 5th finger\n", + " definition of HP:0009246 (Aplasia of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " Absence of the distal phalanx of the little (5th) finger.\n", + " definition of HP:0009246 (Aplasia of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " #Absent outermost little finger bone #Absent outermost pinkie finger bone #Absent outermost pinky finger bone\n", + " definition of HP:0009246 (Aplasia of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " Partial duplication of the distal phalanx of the 3rd finger\n", + " definition of HP:0009968 (Partial duplication of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Partial duplication of the distal phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx.\n", + " definition of HP:0009968 (Partial duplication of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Bifid terminal phalanx of the 3rd finger #Notched outermost bone of the middle finger #Partial duplication of the outermost bone of the middle finger\n", + " definition of HP:0009968 (Partial duplication of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Chronic pain\n", + " definition of HP:0012532 (Chronic pain)\n", + " \n", + " \n", + " Persistent pain, usually defined as pain that has lasted longer than 3 to 6 months.\n", + " definition of HP:0012532 (Chronic pain)\n", + " \n", + " \n", + " #Chronic pain #Long-lasting pain\n", + " definition of HP:0012532 (Chronic pain)\n", + " \n", + " \n", + " Abnormal location of ears\n", + " definition of HP:0000357 (Abnormal location of ears)\n", + " \n", + " \n", + " Abnormal location of the ear.\n", + " definition of HP:0000357 (Abnormal location of ears)\n", + " \n", + " \n", + " #Abnormal location of ears #External ear position defect\n", + " definition of HP:0000357 (Abnormal location of ears)\n", + " \n", + " \n", + " Abnormality of mental function\n", + " definition of HP:0011446 (Abnormality of mental function)\n", + " \n", + " \n", + " Cognitive, psychiatric, or memory anomaly.\n", + " definition of HP:0011446 (Abnormality of mental function)\n", + " \n", + " \n", + " #Abnormality of higher mental function\n", + " definition of HP:0011446 (Abnormality of mental function)\n", + " \n", + " \n", + " Hemifacial spasm\n", + " definition of HP:0010828 (Hemifacial spasm)\n", + " \n", + " \n", + " Intermittent clonic or tonic contraction of muscles supplied by facial nerve. Muscles are relaxed in between contractions.\n", + " definition of HP:0010828 (Hemifacial spasm)\n", + " \n", + " \n", + " #Spasms on one side of the face\n", + " definition of HP:0010828 (Hemifacial spasm)\n", + " \n", + " \n", + " Palmoplantar hyperhidrosis\n", + " definition of HP:0007410 (Palmoplantar hyperhidrosis)\n", + " \n", + " \n", + " An abnormally increased perspiration on palms and soles.\n", + " definition of HP:0007410 (Palmoplantar hyperhidrosis)\n", + " \n", + " \n", + " #Excessive sweating of palms and soles #Hyperhidrosis of palms and soles\n", + " definition of HP:0007410 (Palmoplantar hyperhidrosis)\n", + " \n", + " \n", + " Reduced peroxisomal glutaryl-CoA oxidase activity\n", + " definition of HP:0034688 (Reduced peroxisomal glutaryl-CoA oxidase activity)\n", + " \n", + " \n", + " Diminished enzyme activity of peroxisomal glutaryl-CoA oxidase, an enzyme that metabolizes glutaryl-CoA (a metabolite of L-lysine, L-hydroxy-lysine and L-tryptophan) by dehydrogenation to glutaconyl-CoA directly followed by decarboxylation of this to crotonyl-CoA.\n", + " definition of HP:0034688 (Reduced peroxisomal glutaryl-CoA oxidase activity)\n", + " \n", + " \n", + " Macular purpura\n", + " definition of HP:0031365 (Macular purpura)\n", + " \n", + " \n", + " Purpura that is flat (non-palpable, not raised).\n", + " definition of HP:0031365 (Macular purpura)\n", + " \n", + " \n", + " #Flat purpura\n", + " definition of HP:0031365 (Macular purpura)\n", + " \n", + " \n", + " Retinal fold\n", + " definition of HP:0008052 (Retinal fold)\n", + " \n", + " \n", + " A wrinkle of retinal tissue projecting outward from the surface of the retina and visible as a line on fundoscopy.\n", + " definition of HP:0008052 (Retinal fold)\n", + " \n", + " \n", + " #Retinal folds\n", + " definition of HP:0008052 (Retinal fold)\n", + " \n", + " \n", + " Easily subluxated first metacarpophalangeal joints\n", + " definition of HP:0005747 (Easily subluxated first metacarpophalangeal joints)\n", + " \n", + " \n", + " Plexiform neurofibroma\n", + " definition of HP:0009732 (Plexiform neurofibroma)\n", + " \n", + " \n", + " A neurofibroma in which Schwann cells proliferate inside the nerve sheath, producing an irregularly thickened, distorted, tortuous structure.\n", + " definition of HP:0009732 (Plexiform neurofibroma)\n", + " \n", + " \n", + " Mosaic attenuation pattern on pulmonary HRCT\n", + " definition of HP:0025397 (Mosaic attenuation pattern on pulmonary HRCT)\n", + " \n", + " \n", + " A patchwork of intermingled areas of increased and decreased attenuation visualized on pulmonary high-resolution computed tomography.\n", + " definition of HP:0025397 (Mosaic attenuation pattern on pulmonary HRCT)\n", + " \n", + " \n", + " Dyscalculia\n", + " definition of HP:0002442 (Dyscalculia)\n", + " \n", + " \n", + " A specific learning disability involving mathematics and arithmetic.\n", + " definition of HP:0002442 (Dyscalculia)\n", + " \n", + " \n", + " #Acalculia\n", + " definition of HP:0002442 (Dyscalculia)\n", + " \n", + " \n", + " Vasospasm\n", + " definition of HP:0025637 (Vasospasm)\n", + " \n", + " \n", + " Narrowing of an artery due to constriction of the blood vessels.\n", + " definition of HP:0025637 (Vasospasm)\n", + " \n", + " \n", + " #Angiospasm #Blood vessel spasm #Vascular spasm\n", + " definition of HP:0025637 (Vasospasm)\n", + " \n", + " \n", + " Myoclonic tremor\n", + " definition of HP:0033054 (Myoclonic tremor)\n", + " \n", + " \n", + " A tremor-like cortical myoclonus. The tremulous movements are in fact small, high-frequency myoclonic jerks, induced by posture or action. They can be mild, but can also be more incapacitating. When present in the lower limbs, these may lead to gait disorders and even drop attacks. These tremor-like movements during action can be mistaken for essential tremor or epileptic seizures.\n", + " definition of HP:0033054 (Myoclonic tremor)\n", + " \n", + " \n", + " Osseous atresia of the external auditory canal\n", + " definition of HP:0040102 (Osseous atresia of the external auditory canal)\n", + " \n", + " \n", + " Cerebral artery calcification\n", + " definition of HP:0031309 (Cerebral artery calcification)\n", + " \n", + " \n", + " An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a cerebral artery.\n", + " definition of HP:0031309 (Cerebral artery calcification)\n", + " \n", + " \n", + " Shoulder muscle hypoplasia\n", + " definition of HP:0008952 (Shoulder muscle hypoplasia)\n", + " \n", + " \n", + " Underdevelopment of muscles of the shoulder.\n", + " definition of HP:0008952 (Shoulder muscle hypoplasia)\n", + " \n", + " \n", + " #Underdeveloped shoulder muscle\n", + " definition of HP:0008952 (Shoulder muscle hypoplasia)\n", + " \n", + " \n", + " Stippling of the epiphyses of the 2nd toe\n", + " definition of HP:0100053 (Stippling of the epiphyses of the 2nd toe)\n", + " \n", + " \n", + " The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd toe.\n", + " definition of HP:0100053 (Stippling of the epiphyses of the 2nd toe)\n", + " \n", + " \n", + " #Speckled calcifications in the end part of the 2nd toe bone\n", + " definition of HP:0100053 (Stippling of the epiphyses of the 2nd toe)\n", + " \n", + " \n", + " Right aortic arch\n", + " definition of HP:0012020 (Right aortic arch)\n", + " \n", + " \n", + " Aorta descends on right instead of on the left.\n", + " definition of HP:0012020 (Right aortic arch)\n", + " \n", + " \n", + " #Right-sided aortic arch\n", + " definition of HP:0012020 (Right aortic arch)\n", + " \n", + " \n", + " Pituitary gland cyst\n", + " definition of HP:0410278 (Pituitary gland cyst)\n", + " \n", + " \n", + " A fluid-filled sacs that develop on or near the pituitary gland.\n", + " definition of HP:0410278 (Pituitary gland cyst)\n", + " \n", + " \n", + " #Cyst of the pituitary gland\n", + " definition of HP:0410278 (Pituitary gland cyst)\n", + " \n", + " \n", + " Joint subluxation\n", + " definition of HP:0032153 (Joint subluxation)\n", + " \n", + " \n", + " A partial dislocation of a joint.\n", + " definition of HP:0032153 (Joint subluxation)\n", + " \n", + " \n", + " Partial agenesis of the corpus callosum\n", + " definition of HP:0001338 (Partial agenesis of the corpus callosum)\n", + " \n", + " \n", + " A partial failure of the development of the corpus callosum.\n", + " definition of HP:0001338 (Partial agenesis of the corpus callosum)\n", + " \n", + " \n", + " #Corpus callosum agenesis, partial #Partial agenesis of corpus callosum #Partial corpus callosum agenesis #Partial or complete agenesis of corpus callosum #Partial to complete agenesis of corpus callosum #Partial-total agenesis of corpus callosum\n", + " definition of HP:0001338 (Partial agenesis of the corpus callosum)\n", + " \n", + " \n", + " Abnormal lexical patterns\n", + " definition of HP:0025772 (Abnormal lexical patterns)\n", + " \n", + " \n", + " A persistent abnormality in patterns or meanings of expressed language. Words and phrases are disorganized in relationship to each other and often used incorrectly or inappropriately for the context and background culture of the person.\n", + " definition of HP:0025772 (Abnormal lexical patterns)\n", + " \n", + " \n", + " Prominent nasal septum\n", + " definition of HP:0005322 (Prominent nasal septum)\n", + " \n", + " \n", + " #Prominent nasal septum #Prominent septum of nose\n", + " definition of HP:0005322 (Prominent nasal septum)\n", + " \n", + " \n", + " Localized pulmonary hemorrhage\n", + " definition of HP:0032990 (Localized pulmonary hemorrhage)\n", + " \n", + " \n", + " Circumscribed pulmonary hemorrhage originating from a single bleeding site in the lungs. This can be due to infections, tumorigenesis, foreign bodies, or vascular abnormalities. Patient often feel the site of bleeding, contrast CT scan or angiography may localize the bleeder.\n", + " definition of HP:0032990 (Localized pulmonary hemorrhage)\n", + " \n", + " \n", + " #Localised pulmonary haemorrhage\n", + " definition of HP:0032990 (Localized pulmonary hemorrhage)\n", + " \n", + " \n", + " Aplastic/hypoplastic lacrimal glands\n", + " definition of HP:0008038 (Aplastic/hypoplastic lacrimal glands)\n", + " \n", + " \n", + " Absence or underdevelopment of the lacrimal gland.\n", + " definition of HP:0008038 (Aplastic/hypoplastic lacrimal glands)\n", + " \n", + " \n", + " #Absent/underdeveloped lacrimal glands #Absent/underdeveloped tear glands\n", + " definition of HP:0008038 (Aplastic/hypoplastic lacrimal glands)\n", + " \n", + " \n", + " Sigmoid kidney\n", + " definition of HP:0034231 (Sigmoid kidney)\n", + " \n", + " \n", + " A type of cross fused renal ectopia where the normal side kidney is present superiorly and the direction of pelvic is medial, the kidney which crosses positioned inferiorly with direction of pelvic toward the lateral side. As kidneys fuse after complete rotation on the vertical axis, both renal pelves lie in correct orientation.\n", + " definition of HP:0034231 (Sigmoid kidney)\n", + " \n", + " \n", + " #S-shaped kidney #Type B cross fused renal ectopia\n", + " definition of HP:0034231 (Sigmoid kidney)\n", + " \n", + " \n", + " Dysplastic testes\n", + " definition of HP:0008733 (Dysplastic testes)\n", + " \n", + " \n", + " Abnormal platelet dense granule ATP/ADP ratio\n", + " definition of HP:0030401 (Abnormal platelet dense granule ATP/ADP ratio)\n", + " \n", + " \n", + " Deviation from normal of the ratio of adenosine triphosphate (ATP) to adenosine diphosphate (ADP) within platelets.\n", + " definition of HP:0030401 (Abnormal platelet dense granule ATP/ADP ratio)\n", + " \n", + " \n", + " Focal aware behavior arrest seizure\n", + " definition of HP:0032789 (Focal aware behavior arrest seizure)\n", + " \n", + " \n", + " A focal behavior arrest seizure characterized by retained awareness throughout the seizure.\n", + " definition of HP:0032789 (Focal aware behavior arrest seizure)\n", + " \n", + " \n", + " #Focal aware behaviour arrest seizure\n", + " definition of HP:0032789 (Focal aware behavior arrest seizure)\n", + " \n", + " \n", + " Cyclotropia\n", + " definition of HP:0031776 (Cyclotropia)\n", + " \n", + " \n", + " A form of manifest strabismus (heterotropia) in which the one eye is wheel rotated so that the upper end of its vertical axis is nasal (incyclotropia) or temporal (excyclotropia).\n", + " definition of HP:0031776 (Cyclotropia)\n", + " \n", + " \n", + " Hydronephrosis\n", + " definition of HP:0000126 (Hydronephrosis)\n", + " \n", + " \n", + " Severe distention of the kidney with dilation of the renal pelvis and calices.\n", + " definition of HP:0000126 (Hydronephrosis)\n", + " \n", + " \n", + " Agenesis of molar\n", + " definition of HP:0011054 (Agenesis of molar)\n", + " \n", + " \n", + " Agenesis of molar tooth.\n", + " definition of HP:0011054 (Agenesis of molar)\n", + " \n", + " \n", + " #Absent molars #Failure of development of molar\n", + " definition of HP:0011054 (Agenesis of molar)\n", + " \n", + " \n", + " Thick pachygyria\n", + " definition of HP:0020187 (Thick pachygyria)\n", + " \n", + " \n", + " Pachygyria with a very thick cerebral cortex measuring 10-20 mm. Note that cortical thickness cannot be measured reliably on scans done between 3 and 24 months of age.\n", + " definition of HP:0020187 (Thick pachygyria)\n", + " \n", + " \n", + " #Pachygyria with cortical thickness > 10 mm #Pachygyria with cortical thickness above 10 mm\n", + " definition of HP:0020187 (Thick pachygyria)\n", + " \n", + " \n", + " Arterial fibromuscular dysplasia\n", + " definition of HP:0005313 (Arterial fibromuscular dysplasia)\n", + " \n", + " \n", + " An arterial lesion that is characterized by either intimal fibroplasia, with neointimal lesions of cells and matrix deposition, or medial fibroplasia, in which there is loss of smooth muscle cells and increased deposition of collagen and proteoglycans in the medial layer.\n", + " definition of HP:0005313 (Arterial fibromuscular dysplasia)\n", + " \n", + " \n", + " Increased circulating creatine kinase MM isoform\n", + " definition of HP:0032234 (Increased circulating creatine kinase MM isoform)\n", + " \n", + " \n", + " An increased concentration of the MM isoform of creatine kinase in the blood circulation.\n", + " definition of HP:0032234 (Increased circulating creatine kinase MM isoform)\n", + " \n", + " \n", + " #Increased circulating CK MM isoform\n", + " definition of HP:0032234 (Increased circulating creatine kinase MM isoform)\n", + " \n", + " \n", + " Joint contracture of the 4th finger\n", + " definition of HP:0009274 (Joint contracture of the 4th finger)\n", + " \n", + " \n", + " Chronic loss of joint motion in the 4th finger due to structural changes in non-bony tissue. The term camptodactyly of the 4th finger is used if the distal and/or proximal interphalangeal joints are affected.\n", + " definition of HP:0009274 (Joint contracture of the 4th finger)\n", + " \n", + " \n", + " #Joint contractures of the fourth finger\n", + " definition of HP:0009274 (Joint contracture of the 4th finger)\n", + " \n", + " \n", + " Progressive spastic quadriplegia\n", + " definition of HP:0002478 (Progressive spastic quadriplegia)\n", + " \n", + " \n", + " #Progressive spastic quadriparesis\n", + " definition of HP:0002478 (Progressive spastic quadriplegia)\n", + " \n", + " \n", + " Increased proportion of HLA DR+ T cells\n", + " definition of HP:0002853 (Increased proportion of HLA DR+ T cells)\n", + " \n", + " \n", + " An elevated proportion of T cells that express human leukocyte antigen (HLA)-DR. HLA-DR is an MHC class II cell surface receptor that presents antigens (peptides of at least 9 amino acids), thereby constituting a ligand for the T-cell receptor. HLA-DR can be upregulated in response to immune stimulation.\n", + " definition of HP:0002853 (Increased proportion of HLA DR+ T cells)\n", + " \n", + " \n", + " Reduced forced expiratory volume in one second\n", + " definition of HP:0032342 (Reduced forced expiratory volume in one second)\n", + " \n", + " \n", + " An abnormal reduction in the amount of air a person can forcefully expel in one second.\n", + " definition of HP:0032342 (Reduced forced expiratory volume in one second)\n", + " \n", + " \n", + " #Reduced FEV1\n", + " definition of HP:0032342 (Reduced forced expiratory volume in one second)\n", + " \n", + " \n", + " Transient pulmonary infiltrates\n", + " definition of HP:0005828 (Transient pulmonary infiltrates)\n", + " \n", + " \n", + " Enlarged labia minora\n", + " definition of HP:0008683 (Enlarged labia minora)\n", + " \n", + " \n", + " Increase in size of the folds of skin between the outer labia.\n", + " definition of HP:0008683 (Enlarged labia minora)\n", + " \n", + " \n", + " #Hypertrophic labia minora #Labia minora hypertrophy\n", + " definition of HP:0008683 (Enlarged labia minora)\n", + " \n", + " \n", + " Kyphoscoliosis\n", + " definition of HP:0002751 (Kyphoscoliosis)\n", + " \n", + " \n", + " An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.\n", + " definition of HP:0002751 (Kyphoscoliosis)\n", + " \n", + " \n", + " Unilateral vocal cord paresis\n", + " definition of HP:0012821 (Unilateral vocal cord paresis)\n", + " \n", + " \n", + " Decreased strength of the vocal fold on one side.\n", + " definition of HP:0012821 (Unilateral vocal cord paresis)\n", + " \n", + " \n", + " Lateral rectus muscle underaction\n", + " definition of HP:0031751 (Lateral rectus muscle underaction)\n", + " \n", + " \n", + " Reduced movement of the lateral rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.\n", + " definition of HP:0031751 (Lateral rectus muscle underaction)\n", + " \n", + " \n", + " Hypohidrosis or hyperhidrosis\n", + " definition of HP:0007550 (Hypohidrosis or hyperhidrosis)\n", + " \n", + " \n", + " #Lack of sweating or excessive sweating\n", + " definition of HP:0007550 (Hypohidrosis or hyperhidrosis)\n", + " \n", + " \n", + " Broad 1st metacarpal\n", + " definition of HP:0010027 (Broad 1st metacarpal)\n", + " \n", + " \n", + " Increased width of the 1st metacarpal. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.\n", + " definition of HP:0010027 (Broad 1st metacarpal)\n", + " \n", + " \n", + " #Wide 1st long bone of hand\n", + " definition of HP:0010027 (Broad 1st metacarpal)\n", + " \n", + " \n", + " Fractured larynx\n", + " definition of HP:0041157 (Fractured larynx)\n", + " \n", + " \n", + " A partial or complete breakage of the larynx.\n", + " definition of HP:0041157 (Fractured larynx)\n", + " \n", + " \n", + " #bone larynx\n", + " definition of HP:0041157 (Fractured larynx)\n", + " \n", + " \n", + " Painful defecation\n", + " definition of HP:6000222 (Painful defecation)\n", + " \n", + " \n", + " An unpleasant sensation characterized by physical discomfort that occurs when passing stool.\n", + " definition of HP:6000222 (Painful defecation)\n", + " \n", + " \n", + " #Pain associated with bowel movements\n", + " definition of HP:6000222 (Painful defecation)\n", + " \n", + " \n", + " Coronal craniosynostosis\n", + " definition of HP:0004440 (Coronal craniosynostosis)\n", + " \n", + " \n", + " Premature closure of the coronal suture of skull.\n", + " definition of HP:0004440 (Coronal craniosynostosis)\n", + " \n", + " \n", + " #Coronal suture craniosynostosis #Coronal suture synostosis #Craniosynostosis of coronal suture\n", + " definition of HP:0004440 (Coronal craniosynostosis)\n", + " \n", + " \n", + " Tetraamelia\n", + " definition of HP:0003057 (Tetraamelia)\n", + " \n", + " \n", + " Amelia of all four limbs.\n", + " definition of HP:0003057 (Tetraamelia)\n", + " \n", + " \n", + " #Tetra-amelia\n", + " definition of HP:0003057 (Tetraamelia)\n", + " \n", + " \n", + " Calcific stippling of infantile cartilaginous skeleton\n", + " definition of HP:0005841 (Calcific stippling of infantile cartilaginous skeleton)\n", + " \n", + " \n", + " Excess residual spermatozoal cytoplasm\n", + " definition of HP:0034795 (Excess residual spermatozoal cytoplasm)\n", + " \n", + " \n", + " Excess residual cytoplasm is associated with abnormal spermatozoa produced from a defective spermiation process. This abnormal excess cytoplasm should not be confused with more physiological cytoplasmic residues that can be observed in direct microscopy of the ejaculate but not in dried, fixed and stained morphology smears.\n", + " definition of HP:0034795 (Excess residual spermatozoal cytoplasm)\n", + " \n", + " \n", + " Osteoarthritis of the small joints of the hand\n", + " definition of HP:0004268 (Osteoarthritis of the small joints of the hand)\n", + " \n", + " \n", + " Abnormality of the periungual region\n", + " definition of HP:0100803 (Abnormality of the periungual region)\n", + " \n", + " \n", + " An abnormality of the region around the nails of the fingers or toes.\n", + " definition of HP:0100803 (Abnormality of the periungual region)\n", + " \n", + " \n", + " Testicular teratoma\n", + " definition of HP:0100616 (Testicular teratoma)\n", + " \n", + " \n", + " The presence of a teratoma of the testis.\n", + " definition of HP:0100616 (Testicular teratoma)\n", + " \n", + " \n", + " Akinesia\n", + " definition of HP:0002304 (Akinesia)\n", + " \n", + " \n", + " Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily.\n", + " definition of HP:0002304 (Akinesia)\n", + " \n", + " \n", + " Splenic lipid-laden macrophage infiltration\n", + " definition of HP:6000160 (Splenic lipid-laden macrophage infiltration)\n", + " \n", + " \n", + " Accumulation of foamy cells (lipid-laden macrophages) in the parenchyma of the spleen.\n", + " definition of HP:6000160 (Splenic lipid-laden macrophage infiltration)\n", + " \n", + " \n", + " #Spleen biopsy: lipid-laden macrophages #Splenic foamy cells\n", + " definition of HP:6000160 (Splenic lipid-laden macrophage infiltration)\n", + " \n", + " \n", + " Focal sensory seizure with hot-cold sensations\n", + " definition of HP:0032760 (Focal sensory seizure with hot-cold sensations)\n", + " \n", + " \n", + " A seizure characterized by sensations of feeling hot or cold as its first clinical manifestation.\n", + " definition of HP:0032760 (Focal sensory seizure with hot-cold sensations)\n", + " \n", + " \n", + " Abnormal proportion of CD4+ central memory cells\n", + " definition of HP:0025620 (Abnormal proportion of CD4+ central memory cells)\n", + " \n", + " \n", + " An abnormal proportion of central memory CD4+ T cells. These are memory cells that are located in the secondary lymphoid organs. These cells may have a CD3/CD4/CD62L+/CD45RA- phenotype.\n", + " definition of HP:0025620 (Abnormal proportion of CD4+ central memory cells)\n", + " \n", + " \n", + " #Abnormal proportion of central memory CD4+, alpha-beta T cells\n", + " definition of HP:0025620 (Abnormal proportion of CD4+ central memory cells)\n", + " \n", + " \n", + " Formation of multiple pronuclei during fertilization\n", + " definition of HP:4000008 (Formation of multiple pronuclei during fertilization)\n", + " \n", + " \n", + " Pronuclei formation is a critical process during fertilization. Normally, there are two pronuclei (2PN), including the paternal pronucleus and the maternal pronucleus, in the zygote after fertilization. It is generally accepted that multiple pronuclei (MPN) formation is due to the abnormal extrusion of the second polar body or to abnormal fertilization with multiple sperm. The MPN therefore can cause infertility and recurrent failure of IVF/ICSI.\n", + " definition of HP:4000008 (Formation of multiple pronuclei during fertilization)\n", + " \n", + " \n", + " Lip hyperpigmentation\n", + " definition of HP:0100816 (Lip hyperpigmentation)\n", + " \n", + " \n", + " #Darkening of skin of the lips #Hyperpigmentation of lip vermillion #Increased pigmentation on the lips\n", + " definition of HP:0100816 (Lip hyperpigmentation)\n", + " \n", + " \n", + " Blepharospasm\n", + " definition of HP:0000643 (Blepharospasm)\n", + " \n", + " \n", + " A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids.\n", + " definition of HP:0000643 (Blepharospasm)\n", + " \n", + " \n", + " #Eyelid spasm #Eyelid twitching #Involuntary closure of eyelid #Spontaneous closure of eyelid\n", + " definition of HP:0000643 (Blepharospasm)\n", + " \n", + " \n", + " Claw toe deformity\n", + " definition of HP:0034397 (Claw toe deformity)\n", + " \n", + " \n", + " Claw toes are characterized by hyperextension at the metatarsal-phalangeal joints and flexion of the interphalangeal joints.\n", + " definition of HP:0034397 (Claw toe deformity)\n", + " \n", + " \n", + " Aspiration pneumonia\n", + " definition of HP:0011951 (Aspiration pneumonia)\n", + " \n", + " \n", + " Pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract.\n", + " definition of HP:0011951 (Aspiration pneumonia)\n", + " \n", + " \n", + " Anti-osteoprotegerin antibody positivity\n", + " definition of HP:6000193 (Anti-osteoprotegerin antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against osteoprotegerin.\n", + " definition of HP:6000193 (Anti-osteoprotegerin antibody positivity)\n", + " \n", + " \n", + " #Anti-OPG antibody positivity\n", + " definition of HP:6000193 (Anti-osteoprotegerin antibody positivity)\n", + " \n", + " \n", + " Benign neoplasm of the central nervous system\n", + " definition of HP:0100835 (Benign neoplasm of the central nervous system)\n", + " \n", + " \n", + " #Benign neoplasm of the CNS\n", + " definition of HP:0100835 (Benign neoplasm of the central nervous system)\n", + " \n", + " \n", + " Telangiectases of the cheeks\n", + " definition of HP:0007421 (Telangiectases of the cheeks)\n", + " \n", + " \n", + " Telangiectases (small dilated blood vessels) located near the surface of the skin of the cheeks.\n", + " definition of HP:0007421 (Telangiectases of the cheeks)\n", + " \n", + " \n", + " Hazardous alcohol use\n", + " definition of HP:6000028 (Hazardous alcohol use)\n", + " \n", + " \n", + " Hazardous drinking is defined as a quantity or pattern of alcohol consumption that places individuals at risk for adverse health events. This could include alcohol use despite potentially hazardous or risky consequences, such as operating heavy machinery or drunk driving.\n", + " definition of HP:6000028 (Hazardous alcohol use)\n", + " \n", + " \n", + " Curved proximal toe phalanx\n", + " definition of HP:0010206 (Curved proximal toe phalanx)\n", + " \n", + " \n", + " A deviation from the normal straight shape of a proximal phalanx of one or more toes.\n", + " definition of HP:0010206 (Curved proximal toe phalanx)\n", + " \n", + " \n", + " #Curved innermost toe bones #Curved proximal phalanges of the toes\n", + " definition of HP:0010206 (Curved proximal toe phalanx)\n", + " \n", + " \n", + " Anterolateral radial head dislocation\n", + " definition of HP:0005050 (Anterolateral radial head dislocation)\n", + " \n", + " \n", + " A dislocation of the head of the radius from its socket in the elbow joint in an anterolateral direction.\n", + " definition of HP:0005050 (Anterolateral radial head dislocation)\n", + " \n", + " \n", + " #Anterior/lateral radial head dislocation\n", + " definition of HP:0005050 (Anterolateral radial head dislocation)\n", + " \n", + " \n", + " Focal cognitive seizure with dyslexia/alexia\n", + " definition of HP:0032694 (Focal cognitive seizure with dyslexia/alexia)\n", + " \n", + " \n", + " A focal cognitive seizure characterized by dyslexia / alexia as the initial semiological manifestation.\n", + " definition of HP:0032694 (Focal cognitive seizure with dyslexia/alexia)\n", + " \n", + " \n", + " Triangular epiphysis of the proximal phalanx of the thumb\n", + " definition of HP:0009674 (Triangular epiphysis of the proximal phalanx of the thumb)\n", + " \n", + " \n", + " A triangular appearance of the epiphysis of the proximal phalanx of the thumb of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.\n", + " definition of HP:0009674 (Triangular epiphysis of the proximal phalanx of the thumb)\n", + " \n", + " \n", + " #Triangular end part of thumb innermost long bone\n", + " definition of HP:0009674 (Triangular epiphysis of the proximal phalanx of the thumb)\n", + " \n", + " \n", + " Agraphesthesia\n", + " definition of HP:0011812 (Agraphesthesia)\n", + " \n", + " \n", + " Impaired ability to recognize letters or numbers drawn by an examiner's fingertip on the patient's skin (the patients eyes are closed or covered throughout this examination).\n", + " definition of HP:0011812 (Agraphesthesia)\n", + " \n", + " \n", + " Adenocarcinoma of the small intestine\n", + " definition of HP:0040274 (Adenocarcinoma of the small intestine)\n", + " \n", + " \n", + " A malignant epithelial tumor with a glandular organization that originates in the small intestine.\n", + " definition of HP:0040274 (Adenocarcinoma of the small intestine)\n", + " \n", + " \n", + " Diffuse telangiectasia\n", + " definition of HP:0007489 (Diffuse telangiectasia)\n", + " \n", + " \n", + " Telangiectases (small dilated blood vessels) with a diffuse localization.\n", + " definition of HP:0007489 (Diffuse telangiectasia)\n", + " \n", + " \n", + " #Diffuse telangiectases #Telangiectases, random body distribution\n", + " definition of HP:0007489 (Diffuse telangiectasia)\n", + " \n", + " \n", + " Focal autonomic seizure with hypoventilation/hyperventilation/altered respiration\n", + " definition of HP:0032766 (Focal autonomic seizure with hypoventilation/hyperventilation/altered respiration)\n", + " \n", + " \n", + " A type of focal autonomic seizure characterized by changes in respiratory rate as the initial semiological feature.\n", + " definition of HP:0032766 (Focal autonomic seizure with hypoventilation/hyperventilation/altered respiration)\n", + " \n", + " \n", + " Congenital megalourethra\n", + " definition of HP:0030723 (Congenital megalourethra)\n", + " \n", + " \n", + " Dilation and elongation of the penile urethra associated with absence or hypoplasia of the corpora spongiosa and cavernosa.\n", + " definition of HP:0030723 (Congenital megalourethra)\n", + " \n", + " \n", + " Abnormal blood zinc concentration\n", + " definition of HP:0008277 (Abnormal blood zinc concentration)\n", + " \n", + " \n", + " An abnormality of zinc ion homeostasis.\n", + " definition of HP:0008277 (Abnormal blood zinc concentration)\n", + " \n", + " \n", + " #Abnormality of zinc homeostasis\n", + " definition of HP:0008277 (Abnormal blood zinc concentration)\n", + " \n", + " \n", + " Spastic tetraplegia\n", + " definition of HP:0002510 (Spastic tetraplegia)\n", + " \n", + " \n", + " Spastic paralysis affecting all four limbs.\n", + " definition of HP:0002510 (Spastic tetraplegia)\n", + " \n", + " \n", + " #Spastic quadriplegia\n", + " definition of HP:0002510 (Spastic tetraplegia)\n", + " \n", + " \n", + " Interstitial emphysema\n", + " definition of HP:0032965 (Interstitial emphysema)\n", + " \n", + " \n", + " Interstitial emphysema is characterized by air dissecting within the interstitium of the lung, typically in the peribronchovascular sheaths, interlobular septa, and visceral pleura. It is most commonly seen in neonates receiving mechanical ventilation. It is rarely recognized radiographically in adults and is infrequently seen on CT scans. It appears as perivascular lucent or low attenuating halos and small cysts.\n", + " definition of HP:0032965 (Interstitial emphysema)\n", + " \n", + " \n", + " Triangular tibia\n", + " definition of HP:0031260 (Triangular tibia)\n", + " \n", + " \n", + " A short, dysplastic tibia with a triangular shape. Instead of the normal shaft configuration of the tibia, the tibia forms a triangle with the longest side corresponding to the proximal-distal dimension, and the apex of the triangle directed laterally.\n", + " definition of HP:0031260 (Triangular tibia)\n", + " \n", + " \n", + " Premature loss of teeth\n", + " definition of HP:0006480 (Premature loss of teeth)\n", + " \n", + " \n", + " Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal.\n", + " definition of HP:0006480 (Premature loss of teeth)\n", + " \n", + " \n", + " #Early tooth loss #Loss of teeth #Premature teeth loss #Premature tooth loss\n", + " definition of HP:0006480 (Premature loss of teeth)\n", + " \n", + " \n", + " Anterior wedging of T12\n", + " definition of HP:0011940 (Anterior wedging of T12)\n", + " \n", + " \n", + " An abnormality of the shape of the thoracic vertebra T12 such that it is wedge-shaped (narrow towards the front).\n", + " definition of HP:0011940 (Anterior wedging of T12)\n", + " \n", + " \n", + " #Anterior wedging of the 12th thoracic vertebra #Wedge-shaped 12th thoracic vertebra\n", + " definition of HP:0011940 (Anterior wedging of T12)\n", + " \n", + " \n", + " Reduced hepatic cystathionine gamma-lyase activity\n", + " definition of HP:0034929 (Reduced hepatic cystathionine gamma-lyase activity)\n", + " \n", + " \n", + " Activity of cystathionine gamma-lyase in the liver below the lower limit of normal.\n", + " definition of HP:0034929 (Reduced hepatic cystathionine gamma-lyase activity)\n", + " \n", + " \n", + " #Reduced hepatic cystathionase activity\n", + " definition of HP:0034929 (Reduced hepatic cystathionine gamma-lyase activity)\n", + " \n", + " \n", + " Elevated circulating beta-mannosidase activity\n", + " definition of HP:0034726 (Elevated circulating beta-mannosidase activity)\n", + " \n", + " \n", + " Activity of the enzyme beta-mannosidase above the upper limit of normal. Beta-mannosidase is a lysosomal enzyme that catabolizes oligosaccharides.\n", + " definition of HP:0034726 (Elevated circulating beta-mannosidase activity)\n", + " \n", + " \n", + " #Beta-mannosidase high in blood\n", + " definition of HP:0034726 (Elevated circulating beta-mannosidase activity)\n", + " \n", + " \n", + " Short middle phalanx of the 5th finger\n", + " definition of HP:0004220 (Short middle phalanx of the 5th finger)\n", + " \n", + " \n", + " Hypoplastic/small middle phalanx of the fifth finger.\n", + " definition of HP:0004220 (Short middle phalanx of the 5th finger)\n", + " \n", + " \n", + " #5th finger middle phalangeal hypoplasia #Brachymesophalangism V #Brachymesophalangy V (finger) #Fifth finger mid-phalanx hypoplasia #Hypoplastic fifth finger middle phalanx #Hypoplastic middle phalanx of the 5th finger #Hypoplastic/small middle phalanx of the 5th finger #Hypoplastic/small middle phalanx of the little finger #Short middle bone of the little finger #Short middle bone of the pinkie finger #Short middle bone of the pinky finger #Short middle phalanx of the little finger #Type A3 brachydactyly\n", + " definition of HP:0004220 (Short middle phalanx of the 5th finger)\n", + " \n", + " \n", + " Hypoplastic nasal bone\n", + " definition of HP:0025707 (Hypoplastic nasal bone)\n", + " \n", + " \n", + " Length of the nasal bone below a predetermined cut-off as seen on antenatal ultrasound using standard imaging techniques.\n", + " definition of HP:0025707 (Hypoplastic nasal bone)\n", + " \n", + " \n", + " Limb duplication\n", + " definition of HP:0100524 (Limb duplication)\n", + " \n", + " \n", + " Congenital duplication of all or part of a limb.\n", + " definition of HP:0100524 (Limb duplication)\n", + " \n", + " \n", + " #Dimelia #Limb duplication\n", + " definition of HP:0100524 (Limb duplication)\n", + " \n", + " \n", + " Coronary artery stenosis\n", + " definition of HP:0005145 (Coronary artery stenosis)\n", + " \n", + " \n", + " Abnormal narrowing of the coronary artery.\n", + " definition of HP:0005145 (Coronary artery stenosis)\n", + " \n", + " \n", + " #Narrowing of coronary artery\n", + " definition of HP:0005145 (Coronary artery stenosis)\n", + " \n", + " \n", + " Tetraphocomelia\n", + " definition of HP:0030721 (Tetraphocomelia)\n", + " \n", + " \n", + " Phocomelia involving all four extremities.\n", + " definition of HP:0030721 (Tetraphocomelia)\n", + " \n", + " \n", + " Reduced urine retrahydrocortisol plus 5-alpha-THF to tetrahydrocortisone ratio\n", + " definition of HP:6001080 (Reduced urine retrahydrocortisol plus 5-alpha-THF to tetrahydrocortisone ratio)\n", + " \n", + " \n", + " Abnormally low ratio of tetrahydrocortisol (THF) plus 5-alpha-THF to tetrahydrocortisone (THE).\n", + " definition of HP:6001080 (Reduced urine retrahydrocortisol plus 5-alpha-THF to tetrahydrocortisone ratio)\n", + " \n", + " \n", + " Phaeohyphomycosis\n", + " definition of HP:6000031 (Phaeohyphomycosis)\n", + " \n", + " \n", + " Phaeohyphomycosis refers to infections due to a large group of heterogenous organisms called dematiaceous or melanized fungi. These fungi are distinguished by the predominance of melanin in their cell walls, which likely acts as a virulence factor. Virtually, everyone is exposed to dematiaceous fungi through inhalation, as they are ubiquitous in the environment, although the development of infection is extremely uncommon.\n", + " definition of HP:6000031 (Phaeohyphomycosis)\n", + " \n", + " \n", + " Abnormal vomer morphology\n", + " definition of HP:0410000 (Abnormal vomer morphology)\n", + " \n", + " \n", + " An abnormality of the vomer.\n", + " definition of HP:0410000 (Abnormal vomer morphology)\n", + " \n", + " \n", + " #Abnormality of vomer #Abnormality of vomer bone #Defect of vomer\n", + " definition of HP:0410000 (Abnormal vomer morphology)\n", + " \n", + " \n", + " Abdominal situs inversus\n", + " definition of HP:0003363 (Abdominal situs inversus)\n", + " \n", + " \n", + " A left-right reversal (or mirror reflection) of the anatomical location of the viscera of the abdomen.\n", + " definition of HP:0003363 (Abdominal situs inversus)\n", + " \n", + " \n", + " #Situs inversus visceralis #Situs inversus viscerum\n", + " definition of HP:0003363 (Abdominal situs inversus)\n", + " \n", + " \n", + " Hyperkalemic metabolic acidosis\n", + " definition of HP:0005976 (Hyperkalemic metabolic acidosis)\n", + " \n", + " \n", + " Absent tibia\n", + " definition of HP:0009556 (Absent tibia)\n", + " \n", + " \n", + " Absence of the tibia.\n", + " definition of HP:0009556 (Absent tibia)\n", + " \n", + " \n", + " #Absent shankbone #Absent shinbone #Aplasia of the tibia\n", + " definition of HP:0009556 (Absent tibia)\n", + " \n", + " \n", + " Livedo racemosa\n", + " definition of HP:0033260 (Livedo racemosa)\n", + " \n", + " \n", + " Livedo racemosa describes a reddish-blue mottling of the skin in an irregular, reticular pattern. It differs from the more common livedo reticularis by its shape. Livedo racemosa consists of broken circular segments resulting in a seemingly larger pattern, as opposed to the fine, regular, complete network of livedo reticularis. Livedo racemosa results from permanent impairment of peripheral blood flow and, unlike livedo reticularis, it persists on warming.\n", + " definition of HP:0033260 (Livedo racemosa)\n", + " \n", + " \n", + " Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole\n", + " definition of HP:0032773 (Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole)\n", + " \n", + " \n", + " A type of focal autonomic seizure characterized by changes in heart rate as the initial semiological feature.\n", + " definition of HP:0032773 (Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole)\n", + " \n", + " \n", + " Hyperfibrinogenemia\n", + " definition of HP:0011899 (Hyperfibrinogenemia)\n", + " \n", + " \n", + " Increased concentration of fibrinogen in the blood.\n", + " definition of HP:0011899 (Hyperfibrinogenemia)\n", + " \n", + " \n", + " Progressive alopecia\n", + " definition of HP:0002287 (Progressive alopecia)\n", + " \n", + " \n", + " Progressive loss of hair.\n", + " definition of HP:0002287 (Progressive alopecia)\n", + " \n", + " \n", + " Corticospinal tract pallor\n", + " definition of HP:0008361 (Corticospinal tract pallor)\n", + " \n", + " \n", + " Prominent nose\n", + " definition of HP:0000448 (Prominent nose)\n", + " \n", + " \n", + " Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip.\n", + " definition of HP:0000448 (Prominent nose)\n", + " \n", + " \n", + " #Big nose #Disproportionately large nose #Increased nasal size #Increased size of nose #Large nose #Prominent nose #Pronounced nose\n", + " definition of HP:0000448 (Prominent nose)\n", + " \n", + " \n", + " Abnormal shape of the frontal region\n", + " definition of HP:0011218 (Abnormal shape of the frontal region)\n", + " \n", + " \n", + " An abnormal shape of the frontal part of the head.\n", + " definition of HP:0011218 (Abnormal shape of the frontal region)\n", + " \n", + " \n", + " #Abnormal morphology of the frontal region #Abnormal shape of the forehead #Dysmorphic forehead #Dysmorphic frontal region\n", + " definition of HP:0011218 (Abnormal shape of the frontal region)\n", + " \n", + " \n", + " Aplasia of the ulna\n", + " definition of HP:0003982 (Aplasia of the ulna)\n", + " \n", + " \n", + " Missing ulna bone associated with congenital failure of development.\n", + " definition of HP:0003982 (Aplasia of the ulna)\n", + " \n", + " \n", + " #Absent ossification/absent ulna #Absent ulna\n", + " definition of HP:0003982 (Aplasia of the ulna)\n", + " \n", + " \n", + " Morbus Koehler\n", + " definition of HP:0010888 (Morbus Koehler)\n", + " \n", + " \n", + " Morbus Koehler is a Juvenile aseptic necrosis affecting the Os naviculare pedis.\n", + " definition of HP:0010888 (Morbus Koehler)\n", + " \n", + " \n", + " Reduced lysosomal acid lipase activity\n", + " definition of HP:0031205 (Reduced lysosomal acid lipase activity)\n", + " \n", + " \n", + " Reduction in the activity of lysosomal acid lipase (LAL) in the blood. Lysosomal lipase activity is measured. LAL hydrolyzes cholesteryl esters derived from cell internalization of plasma lipoproteins.\n", + " definition of HP:0031205 (Reduced lysosomal acid lipase activity)\n", + " \n", + " \n", + " #Reduced leukocyte acid lipase activity\n", + " definition of HP:0031205 (Reduced lysosomal acid lipase activity)\n", + " \n", + " \n", + " Abnormality of mesenteric lymph nodes\n", + " definition of HP:0025042 (Abnormality of mesenteric lymph nodes)\n", + " \n", + " \n", + " A morphological anomaly of lymph nodes in the mesenteric root or throughout the mesentery.\n", + " definition of HP:0025042 (Abnormality of mesenteric lymph nodes)\n", + " \n", + " \n", + " Proprioceptive hallucination\n", + " definition of HP:5200203 (Proprioceptive hallucination)\n", + " \n", + " \n", + " A type of hallucination that involves the perception of distorted or abnormal sensations related to one's body position or movement.\n", + " definition of HP:5200203 (Proprioceptive hallucination)\n", + " \n", + " \n", + " Triangular epiphysis of the distal phalanx of the 2nd toe\n", + " definition of HP:0100110 (Triangular epiphysis of the distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Triangular end part of the outermost bone of the 2nd toe\n", + " definition of HP:0100110 (Triangular epiphysis of the distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Abnormal ossification of the pubic bone\n", + " definition of HP:0009105 (Abnormal ossification of the pubic bone)\n", + " \n", + " \n", + " Abnormal ossification (bone tissue formation) affecting the pubic bone, also known as the pubis.\n", + " definition of HP:0009105 (Abnormal ossification of the pubic bone)\n", + " \n", + " \n", + " Small intestinal bleeding\n", + " definition of HP:0012849 (Small intestinal bleeding)\n", + " \n", + " \n", + " Bleeding from the small intestine.\n", + " definition of HP:0012849 (Small intestinal bleeding)\n", + " \n", + " \n", + " #Small intestinal bleeding #Small intestinal haemorrhage #Small intestinal hemorrhage\n", + " definition of HP:0012849 (Small intestinal bleeding)\n", + " \n", + " \n", + " Elevated circulating calcitonin concentration\n", + " definition of HP:0003528 (Elevated circulating calcitonin concentration)\n", + " \n", + " \n", + " Concentration of calcitonin, a 32-amino acid polypeptide hormone that is produced primarily by the parafollicular cells of the thyroid, in the blood circulation above the upper limit of normal.\n", + " definition of HP:0003528 (Elevated circulating calcitonin concentration)\n", + " \n", + " \n", + " #Elevated calcitonin\n", + " definition of HP:0003528 (Elevated circulating calcitonin concentration)\n", + " \n", + " \n", + " Taurodontia\n", + " definition of HP:0000679 (Taurodontia)\n", + " \n", + " \n", + " Increased volume of dental pulp of permanent molar characterized by a crown body-root ratio equal or larger than 1:1 or an elongated pulp chambers and apical displacement of the bifurcation or trifurcation of the roots.\n", + " definition of HP:0000679 (Taurodontia)\n", + " \n", + " \n", + " #Taurodont #Taurodontism\n", + " definition of HP:0000679 (Taurodontia)\n", + " \n", + " \n", + " Cognitive fatigue\n", + " definition of HP:0033236 (Cognitive fatigue)\n", + " \n", + " \n", + " A failure to sustain attention that requires self-motivation to optimize performance.\n", + " definition of HP:0033236 (Cognitive fatigue)\n", + " \n", + " \n", + " #Central fatigue\n", + " definition of HP:0033236 (Cognitive fatigue)\n", + " \n", + " \n", + " 4-5 finger cutaneous syndactyly\n", + " definition of HP:0010705 (4-5 finger cutaneous syndactyly)\n", + " \n", + " \n", + " A soft tissue continuity in the anteroposterior axis between the fourth (ring) to the fifth (little) finger that extends distally to at least the level of the proximal interphalangeal joints.\n", + " definition of HP:0010705 (4-5 finger cutaneous syndactyly)\n", + " \n", + " \n", + " #Webbed 4th-5th finger\n", + " definition of HP:0010705 (4-5 finger cutaneous syndactyly)\n", + " \n", + " \n", + " Thalamic hypometabolism in FDG PET\n", + " definition of HP:0012660 (Thalamic hypometabolism in FDG PET)\n", + " \n", + " \n", + " Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the thalamus as measured by positron emission tomography (PET) brain scan.\n", + " definition of HP:0012660 (Thalamic hypometabolism in FDG PET)\n", + " \n", + " \n", + " Prolonged QT interval\n", + " definition of HP:0001657 (Prolonged QT interval)\n", + " \n", + " \n", + " Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).\n", + " definition of HP:0001657 (Prolonged QT interval)\n", + " \n", + " \n", + " #Long QT syndrome #Prolong qt interval on ekg\n", + " definition of HP:0001657 (Prolonged QT interval)\n", + " \n", + " \n", + " Sweating and flushing in the preauricular area in response to mastication\n", + " definition of HP:6000637 (Sweating and flushing in the preauricular area in response to mastication)\n", + " \n", + " \n", + " Sweating and flushing in the preauricular area in response to mastication or a salivary stimulus. Facial warmth, flushing, and sweating in the territory of the auriculotemporal nerve overlying the parotid gland, which may include the preauricular skin, the temporal skin, the scalp, and the temporomandibular joint region. Symptoms occur during meals, especially with spicy and sour foods. This feature is inferred to be a consequence of injury to the auriculotemporal nerve, a branch if the trigeminal nerve.\n", + " definition of HP:6000637 (Sweating and flushing in the preauricular area in response to mastication)\n", + " \n", + " \n", + " #Frey syndrome\n", + " definition of HP:6000637 (Sweating and flushing in the preauricular area in response to mastication)\n", + " \n", + " \n", + " Recurrent herpes\n", + " definition of HP:0005353 (Recurrent herpes)\n", + " \n", + " \n", + " Increased susceptibility to herpesvirus, as manifested by recurrent episodes of herpesvirus.\n", + " definition of HP:0005353 (Recurrent herpes)\n", + " \n", + " \n", + " #Susceptibility to herpesvirus\n", + " definition of HP:0005353 (Recurrent herpes)\n", + " \n", + " \n", + " Narrow internal auditory canal\n", + " definition of HP:0011386 (Narrow internal auditory canal)\n", + " \n", + " \n", + " Reduction in diameter of the internal auditory canal.\n", + " definition of HP:0011386 (Narrow internal auditory canal)\n", + " \n", + " \n", + " Reduced CSF cystine concentration\n", + " definition of HP:0034724 (Reduced CSF cystine concentration)\n", + " \n", + " \n", + " Concentration of cystine in the cerebrospinal fluid below the lower limit of normal. Cystine is sulfur-containing amino acid obtained by the oxidation of two cysteine molecules which are then linked via a disulfide bond.\n", + " definition of HP:0034724 (Reduced CSF cystine concentration)\n", + " \n", + " \n", + " #Cystine low in CSF\n", + " definition of HP:0034724 (Reduced CSF cystine concentration)\n", + " \n", + " \n", + " Papillary thyroid carcinoma\n", + " definition of HP:0002895 (Papillary thyroid carcinoma)\n", + " \n", + " \n", + " The presence of a papillary adenocarcinoma of the thyroid gland.\n", + " definition of HP:0002895 (Papillary thyroid carcinoma)\n", + " \n", + " \n", + " #Papillary carcinoma of thyroid #Thyroid papillary carcinoma\n", + " definition of HP:0002895 (Papillary thyroid carcinoma)\n", + " \n", + " \n", + " Torn oral frenulum\n", + " definition of HP:0034416 (Torn oral frenulum)\n", + " \n", + " \n", + " Laceration or tear of an oral frenulum, flaps of mucous membrane that extend from the midline gingiva to the upper or lower lip.\n", + " definition of HP:0034416 (Torn oral frenulum)\n", + " \n", + " \n", + " #Laceration of oral frenulum #Oral frenulum, torn\n", + " definition of HP:0034416 (Torn oral frenulum)\n", + " \n", + " \n", + " Arthralgia/arthritis\n", + " definition of HP:0005059 (Arthralgia/arthritis)\n", + " \n", + " \n", + " #Joint pain/Joint inflammation\n", + " definition of HP:0005059 (Arthralgia/arthritis)\n", + " \n", + " \n", + " Cone-shaped epiphyses of the 3rd finger\n", + " definition of HP:0009412 (Cone-shaped epiphyses of the 3rd finger)\n", + " \n", + " \n", + " A cone-shaped appearance of the epiphyses of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.\n", + " definition of HP:0009412 (Cone-shaped epiphyses of the 3rd finger)\n", + " \n", + " \n", + " #Cone-shaped end part of middle finger bone\n", + " definition of HP:0009412 (Cone-shaped epiphyses of the 3rd finger)\n", + " \n", + " \n", + " Right ventricular outlet tract obstruction\n", + " definition of HP:0001705 (Right ventricular outlet tract obstruction)\n", + " \n", + " \n", + " An obstruction to the forward flow of blood in the outflow tract of the right ventricle.\n", + " definition of HP:0001705 (Right ventricular outlet tract obstruction)\n", + " \n", + " \n", + " #Right ventricular outlet obstruction\n", + " definition of HP:0001705 (Right ventricular outlet tract obstruction)\n", + " \n", + " \n", + " Death in childhood\n", + " definition of HP:0003819 (Death in childhood)\n", + " \n", + " \n", + " Death in during childhood, defined here as between the ages of 2 and 10 years.\n", + " definition of HP:0003819 (Death in childhood)\n", + " \n", + " \n", + " #Death in childhood\n", + " definition of HP:0003819 (Death in childhood)\n", + " \n", + " \n", + " Anal stenosis\n", + " definition of HP:0002025 (Anal stenosis)\n", + " \n", + " \n", + " Abnormal narrowing of the anal opening.\n", + " definition of HP:0002025 (Anal stenosis)\n", + " \n", + " \n", + " #Narrowing of anal opening\n", + " definition of HP:0002025 (Anal stenosis)\n", + " \n", + " \n", + " Periventricular pseudocyst\n", + " definition of HP:0025728 (Periventricular pseudocyst)\n", + " \n", + " \n", + " Pseudocysts that lack an epithelial lining, PVPCs are frequently observed in the caudothalamic groove or in the infero-lateral aspect of the frontal horns of the lateral ventricles, but may also be located elsewhere along the periventricular germinal matrix, as in the temporal or occipital horns.\n", + " definition of HP:0025728 (Periventricular pseudocyst)\n", + " \n", + " \n", + " Delayed speech and language development\n", + " definition of HP:0000750 (Delayed speech and language development)\n", + " \n", + " \n", + " A degree of language development that is significantly below the norm for a child of a specified age.\n", + " definition of HP:0000750 (Delayed speech and language development)\n", + " \n", + " \n", + " #Deficiency of speech development #Delayed language development #Delayed speech #Delayed speech acquisition #Delayed speech and language development #Delayed speech development #Impaired speech and language development #Impaired speech development #Language delay #Language delayed #Language development deficit #Late-onset speech development #Poor language development #Speech and language delay #Speech and language difficulties #Speech delay\n", + " definition of HP:0000750 (Delayed speech and language development)\n", + " \n", + " \n", + " Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio\n", + " definition of HP:0034006 (Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio)\n", + " \n", + " \n", + " A decreased amount of the urinary cross-links lysyl-pyridinoline (LP, or deoxypyridinoline DPD) as compared to hydroxylysyl-pyridinoline (HP, or pyridinoline PYD). Both are established biochemical markers of osteoclastic bone resorption and collagen degradation.\n", + " definition of HP:0034006 (Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio)\n", + " \n", + " \n", + " Fluctuating splenomegaly\n", + " definition of HP:0006268 (Fluctuating splenomegaly)\n", + " \n", + " \n", + " Intermittently increased size of the spleen.\n", + " definition of HP:0006268 (Fluctuating splenomegaly)\n", + " \n", + " \n", + " Pancreatic steatosis\n", + " definition of HP:0033757 (Pancreatic steatosis)\n", + " \n", + " \n", + " Fat infiltration in the pancreas.\n", + " definition of HP:0033757 (Pancreatic steatosis)\n", + " \n", + " \n", + " #Fatty pancreas #Non-alcoholic fatty pancreatic disease #Pancreatic fatty infiltration #Pancreatic fatty replacement #Pancreatic lipomatosis #Pancreatic lipomatous pseudohypertrophy\n", + " definition of HP:0033757 (Pancreatic steatosis)\n", + " \n", + " \n", + " Bronchopulmonary anastomosis\n", + " definition of HP:0033389 (Bronchopulmonary anastomosis)\n", + " \n", + " \n", + " Abnormal arterial anastomosis (connection) between bronchial and pulmonary arteries.\n", + " definition of HP:0033389 (Bronchopulmonary anastomosis)\n", + " \n", + " \n", + " Tongue edema\n", + " definition of HP:0040315 (Tongue edema)\n", + " \n", + " \n", + " An abnormal accumulation of fluid and swelling in the tongue.\n", + " definition of HP:0040315 (Tongue edema)\n", + " \n", + " \n", + " #Tongue oedema\n", + " definition of HP:0040315 (Tongue edema)\n", + " \n", + " \n", + " Tarsal sclerosis\n", + " definition of HP:0031051 (Tarsal sclerosis)\n", + " \n", + " \n", + " An elevation in bone density in one or more tarsal bones of the foot. Sclerosis is normally detected on a radiograph as an area of increased opacity.\n", + " definition of HP:0031051 (Tarsal sclerosis)\n", + " \n", + " \n", + " Abnormal aortic valve morphology\n", + " definition of HP:0001646 (Abnormal aortic valve morphology)\n", + " \n", + " \n", + " Any abnormality of the aortic valve.\n", + " definition of HP:0001646 (Abnormal aortic valve morphology)\n", + " \n", + " \n", + " #Abnormality of the aortic valve\n", + " definition of HP:0001646 (Abnormal aortic valve morphology)\n", + " \n", + " \n", + " Increased circulating interleukin 4 concentration\n", + " definition of HP:0034490 (Increased circulating interleukin 4 concentration)\n", + " \n", + " \n", + " An increased concentration of interleukin-4 in the blood circulation.\n", + " definition of HP:0034490 (Increased circulating interleukin 4 concentration)\n", + " \n", + " \n", + " #IL-4 high in blood\n", + " definition of HP:0034490 (Increased circulating interleukin 4 concentration)\n", + " \n", + " \n", + " Severe platyspondyly\n", + " definition of HP:0004565 (Severe platyspondyly)\n", + " \n", + " \n", + " #platyspondyly, extreme\n", + " definition of HP:0004565 (Severe platyspondyly)\n", + " \n", + " \n", + " Micromelia\n", + " definition of HP:0002983 (Micromelia)\n", + " \n", + " \n", + " The presence of abnormally small extremities.\n", + " definition of HP:0002983 (Micromelia)\n", + " \n", + " \n", + " #Smaller or shorter than typical limbs\n", + " definition of HP:0002983 (Micromelia)\n", + " \n", + " \n", + " Intracellular accumulation of autofluorescent lipopigment storage material\n", + " definition of HP:0003204 (Intracellular accumulation of autofluorescent lipopigment storage material)\n", + " \n", + " \n", + " The intracellular accumulation of autofluorescent storage material.\n", + " definition of HP:0003204 (Intracellular accumulation of autofluorescent lipopigment storage material)\n", + " \n", + " \n", + " Abnormality of zygomaticus major muscle\n", + " definition of HP:3000018 (Abnormality of zygomaticus major muscle)\n", + " \n", + " \n", + " An abnormality of a zygomaticus major muscle.\n", + " definition of HP:3000018 (Abnormality of zygomaticus major muscle)\n", + " \n", + " \n", + " Decreased FOXP3-expressing T cell count\n", + " definition of HP:6000473 (Decreased FOXP3-expressing T cell count)\n", + " \n", + " \n", + " The number of T cells in peripheral blood that express FOXP3-expressing is below the lower limit of normal. This finding is determined by flow cytometry.\n", + " definition of HP:6000473 (Decreased FOXP3-expressing T cell count)\n", + " \n", + " \n", + " Elevated lactate:pyruvate ratio\n", + " definition of HP:0032653 (Elevated lactate:pyruvate ratio)\n", + " \n", + " \n", + " An abnormal increase in the molar ratio of lactate to pyruvate in the blood circulation.\n", + " definition of HP:0032653 (Elevated lactate:pyruvate ratio)\n", + " \n", + " \n", + " Hyperdynamic left ventricular ejection fraction\n", + " definition of HP:0034313 (Hyperdynamic left ventricular ejection fraction)\n", + " \n", + " \n", + " An abnormally increased ejection fraction of the left ventricle, usually defined as a left ventricular ejection fraction greater than 70 percent.\n", + " definition of HP:0034313 (Hyperdynamic left ventricular ejection fraction)\n", + " \n", + " \n", + " Vaguely nodular lymph-node architecture\n", + " definition of HP:0020236 (Vaguely nodular lymph-node architecture)\n", + " \n", + " \n", + " In contrast to normal lymph node architecture or that of follicular lymphoma, where follicles are typically distinct and readily identifiable on H&E stained biopsy sections, the cells within an atypical lymph node may show what appear to groups of cells forming vague nodules but not forming clear follicles.\n", + " definition of HP:0020236 (Vaguely nodular lymph-node architecture)\n", + " \n", + " \n", + " Fibrillary glomerular subepithelial deposits\n", + " definition of HP:0033600 (Fibrillary glomerular subepithelial deposits)\n", + " \n", + " \n", + " A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates of randomly arranged, straight, non-branching fibrils that are thicker than amyloid fibrils (average diameter about 20 nm) and are often admixed with smudgy, electron-dense material. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relatively uniform increase in thickness (subjective estimate).\n", + " definition of HP:0033600 (Fibrillary glomerular subepithelial deposits)\n", + " \n", + " \n", + " Choroidal hemangioma\n", + " definition of HP:0007872 (Choroidal hemangioma)\n", + " \n", + " \n", + " The presence of multiple hemangiomas in the choroid. These are generally reddish or orange or can have increased pigmentation maiking them difficult to distinguish from choroidal melanomas.\n", + " definition of HP:0007872 (Choroidal hemangioma)\n", + " \n", + " \n", + " Abnormality of vitamin K metabolism\n", + " definition of HP:0100831 (Abnormality of vitamin K metabolism)\n", + " \n", + " \n", + " Vitamin K is a fat-soluble vitamin with a role in promoting the coagulation cascade.\n", + " definition of HP:0100831 (Abnormality of vitamin K metabolism)\n", + " \n", + " \n", + " #Abnormality of vitamin K metabolism\n", + " definition of HP:0100831 (Abnormality of vitamin K metabolism)\n", + " \n", + " \n", + " Generalized hyperkeratosis\n", + " definition of HP:0005595 (Generalized hyperkeratosis)\n", + " \n", + " \n", + " #Generalised hyperkeratosis #Hyperkeratosis, generalised #Hyperkeratosis, generalized\n", + " definition of HP:0005595 (Generalized hyperkeratosis)\n", + " \n", + " \n", + " Liver abscess\n", + " definition of HP:0100523 (Liver abscess)\n", + " \n", + " \n", + " A circumscribed area of pus or necrotic debris in the liver.\n", + " definition of HP:0100523 (Liver abscess)\n", + " \n", + " \n", + " #Hepatic abscess #Liver abscess\n", + " definition of HP:0100523 (Liver abscess)\n", + " \n", + " \n", + " Progressive cervical vertebral spine fusion\n", + " definition of HP:0008449 (Progressive cervical vertebral spine fusion)\n", + " \n", + " \n", + " Seafood allergy\n", + " definition of HP:0410333 (Seafood allergy)\n", + " \n", + " \n", + " Hypersensitivity in form of an adverse immune reaction against seafood.\n", + " definition of HP:0410333 (Seafood allergy)\n", + " \n", + " \n", + " #Allergy to seafood #IgE-mediated seafood allergy #Immunoglobulin E-mediated seafood allergy #Seafood allergy\n", + " definition of HP:0410333 (Seafood allergy)\n", + " \n", + " \n", + " Abnormality of the dorsal column of the spinal cord\n", + " definition of HP:0011397 (Abnormality of the dorsal column of the spinal cord)\n", + " \n", + " \n", + " An abnormality of the dorsal columns, i.e., of the dorsal portion of the gray substance of the spinal cord. The dorsal column consists of the fasciculus gracilis and fasciculus cuneatus and itself is part of the dorsal funiculus.\n", + " definition of HP:0011397 (Abnormality of the dorsal column of the spinal cord)\n", + " \n", + " \n", + " Typified by moderate penetrance\n", + " definition of HP:4000159 (Typified by moderate penetrance)\n", + " \n", + " \n", + " Description of conditions in which only a moderate proportion of individuals with a given genotype exhibit the disease regardless of age assuming a full lifespan of 80 years. There is no commonly accepted definition for moderate penetrance, but we suggest that this term be applied if at least 20 percent but less than 80 percent of individuals with the given genotype would manifest the disease with a full lifespan.\n", + " definition of HP:4000159 (Typified by moderate penetrance)\n", + " \n", + " \n", + " Multifocal subretinal deposits\n", + " definition of HP:0031530 (Multifocal subretinal deposits)\n", + " \n", + " \n", + " Deposits accumulating between the outer retina and the retinal pigment epithelium and that are distributed with multiple foci.\n", + " definition of HP:0031530 (Multifocal subretinal deposits)\n", + " \n", + " \n", + " Nasal congestion\n", + " definition of HP:0001742 (Nasal congestion)\n", + " \n", + " \n", + " Reduced ability to pass air through the nasal cavity often leading to mouth breathing.\n", + " definition of HP:0001742 (Nasal congestion)\n", + " \n", + " \n", + " #Blockage of nose #Nasal blockage #Nasal obstruction #Obstruction of nose #Stuffy nose\n", + " definition of HP:0001742 (Nasal congestion)\n", + " \n", + " \n", + " Anti-herpes simplex antibody positivity\n", + " definition of HP:0430058 (Anti-herpes simplex antibody positivity)\n", + " \n", + " \n", + " The presence of antibodies in the blood circulation that react against a component of herpes simplex.\n", + " definition of HP:0430058 (Anti-herpes simplex antibody positivity)\n", + " \n", + " \n", + " #HSV antibody titer high in blood\n", + " definition of HP:0430058 (Anti-herpes simplex antibody positivity)\n", + " \n", + " \n", + " Citrullinuria\n", + " definition of HP:0032397 (Citrullinuria)\n", + " \n", + " \n", + " The amount of citrulline in the urine, when normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:0032397 (Citrullinuria)\n", + " \n", + " \n", + " #Citrulline high in urine\n", + " definition of HP:0032397 (Citrullinuria)\n", + " \n", + " \n", + " Severe conductive hearing impairment\n", + " definition of HP:0012717 (Severe conductive hearing impairment)\n", + " \n", + " \n", + " A severe form of conductive hearing impairment.\n", + " definition of HP:0012717 (Severe conductive hearing impairment)\n", + " \n", + " \n", + " #Conductive hearing loss, severe\n", + " definition of HP:0012717 (Severe conductive hearing impairment)\n", + " \n", + " \n", + " Prominent nucleoli of renal tubular epithelial cells\n", + " definition of HP:0032602 (Prominent nucleoli of renal tubular epithelial cells)\n", + " \n", + " \n", + " Tubular epithelium with nucleoli clearly visible at 100-fold magnification.\n", + " definition of HP:0032602 (Prominent nucleoli of renal tubular epithelial cells)\n", + " \n", + " \n", + " Antenatal onset\n", + " definition of HP:0030674 (Antenatal onset)\n", + " \n", + " \n", + " Onset prior to birth.\n", + " definition of HP:0030674 (Antenatal onset)\n", + " \n", + " \n", + " #Intrauterine onset #Onset in utero #Prenatal onset\n", + " definition of HP:0030674 (Antenatal onset)\n", + " \n", + " \n", + " Calcified ovarian cyst\n", + " definition of HP:0030425 (Calcified ovarian cyst)\n", + " \n", + " \n", + " A cyst of the ovary that exhibits deposition of calcium salts.\n", + " definition of HP:0030425 (Calcified ovarian cyst)\n", + " \n", + " \n", + " Brachytelomesophalangy\n", + " definition of HP:0005872 (Brachytelomesophalangy)\n", + " \n", + " \n", + " Disproportionately short middle and distal phalanges compared to the hand/foot.\n", + " definition of HP:0005872 (Brachytelomesophalangy)\n", + " \n", + " \n", + " #Progressive brachydactyly of middle and distal phalanges #Short middle and distal phalanges of digits ii through v\n", + " definition of HP:0005872 (Brachytelomesophalangy)\n", + " \n", + " \n", + " Superior rectus atrophy\n", + " definition of HP:0012242 (Superior rectus atrophy)\n", + " \n", + " \n", + " Atrophy of the superior rectus, the extraocular muscle whose primary function is to elevate the globe.\n", + " definition of HP:0012242 (Superior rectus atrophy)\n", + " \n", + " \n", + " #Rectus superior atrophy\n", + " definition of HP:0012242 (Superior rectus atrophy)\n", + " \n", + " \n", + " Unusual infection by anatomical site\n", + " definition of HP:0032158 (Unusual infection by anatomical site)\n", + " \n", + " \n", + " An unusual infection classified by the affected body part.\n", + " definition of HP:0032158 (Unusual infection by anatomical site)\n", + " \n", + " \n", + " Cone-shaped epiphyses of the 3rd toe\n", + " definition of HP:0100057 (Cone-shaped epiphyses of the 3rd toe)\n", + " \n", + " \n", + " #Cone-shaped end part of the 3rd toe bone\n", + " definition of HP:0100057 (Cone-shaped epiphyses of the 3rd toe)\n", + " \n", + " \n", + " Increased urine alpha-ketoglutarate concentration\n", + " definition of HP:0012402 (Increased urine alpha-ketoglutarate concentration)\n", + " \n", + " \n", + " A greater than normal concentration of 2-oxoglutaric acid in the urine.\n", + " definition of HP:0012402 (Increased urine alpha-ketoglutarate concentration)\n", + " \n", + " \n", + " #Elevated urinary 2-oxoglutarate #Increased urine alpha-ketoglutarate concentration\n", + " definition of HP:0012402 (Increased urine alpha-ketoglutarate concentration)\n", + " \n", + " \n", + " Hyperdeviation\n", + " definition of HP:0025587 (Hyperdeviation)\n", + " \n", + " \n", + " A type of strabismus in which the visual axis of one eye is higher than that of the other.\n", + " definition of HP:0025587 (Hyperdeviation)\n", + " \n", + " \n", + " Susceptibility to chickenpox\n", + " definition of HP:0005360 (Susceptibility to chickenpox)\n", + " \n", + " \n", + " Increased susceptibility to chicken pox, as manifested by recurrent episodes of chicken pox.\n", + " definition of HP:0005360 (Susceptibility to chickenpox)\n", + " \n", + " \n", + " Hypoplastic acetabulae\n", + " definition of HP:0003274 (Hypoplastic acetabulae)\n", + " \n", + " \n", + " Underdeveloped acetabulae.\n", + " definition of HP:0003274 (Hypoplastic acetabulae)\n", + " \n", + " \n", + " #Acetabular hypoplasia #Hypoplastic acetabula\n", + " definition of HP:0003274 (Hypoplastic acetabulae)\n", + " \n", + " \n", + " Abnormal atrioventricular connection\n", + " definition of HP:0011546 (Abnormal atrioventricular connection)\n", + " \n", + " \n", + " An abnormality of the circulatory connection between atria and ventricles.\n", + " definition of HP:0011546 (Abnormal atrioventricular connection)\n", + " \n", + " \n", + " #Abnormal atrioventricular connexion\n", + " definition of HP:0011546 (Abnormal atrioventricular connection)\n", + " \n", + " \n", + " Anonychia\n", + " definition of HP:0001798 (Anonychia)\n", + " \n", + " \n", + " Aplasia of the nail.\n", + " definition of HP:0001798 (Anonychia)\n", + " \n", + " \n", + " #Absent nails #Aplastic nails\n", + " definition of HP:0001798 (Anonychia)\n", + " \n", + " \n", + " Increased nuchal translucency\n", + " definition of HP:0010880 (Increased nuchal translucency)\n", + " \n", + " \n", + " Nuchal translucency is the sonographic appearance of subcutaneous accumulation of liquid in the back of the fetal neck in the first trimester of pregnancy (11-14 gestational weeks of pregnancy).\n", + " definition of HP:0010880 (Increased nuchal translucency)\n", + " \n", + " \n", + " Abnormal circulating amino sulfonic acid concentration\n", + " definition of HP:0500180 (Abnormal circulating amino sulfonic acid concentration)\n", + " \n", + " \n", + " Focal cortical dysplasia\n", + " definition of HP:0032046 (Focal cortical dysplasia)\n", + " \n", + " \n", + " A type of malformation of cortical development that primarily affects areas of neocortex. It can be identified on conventional magnetic resonance imaging as focal cortical thickening, abnormal gyration, and blurring between gray and white matter, often associated with clusters of heterotopic neurons.\n", + " definition of HP:0032046 (Focal cortical dysplasia)\n", + " \n", + " \n", + " Favorable response of weakness to acetylcholine esterase inhibitors\n", + " definition of HP:0030202 (Favorable response of weakness to acetylcholine esterase inhibitors)\n", + " \n", + " \n", + " Improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor.\n", + " definition of HP:0030202 (Favorable response of weakness to acetylcholine esterase inhibitors)\n", + " \n", + " \n", + " #Favourable response of weakness to acetylcholine esterase inhibitors\n", + " definition of HP:0030202 (Favorable response of weakness to acetylcholine esterase inhibitors)\n", + " \n", + " \n", + " Glomerular PLA2R immune-complex deposition\n", + " definition of HP:6000669 (Glomerular PLA2R immune-complex deposition)\n", + " \n", + " \n", + " Accumulation of immune deposits, containing auto-antibodies against the podocyte antigen M-type phospholipase A2 receptor (PLA2R) in intraglomerular locations.\n", + " definition of HP:6000669 (Glomerular PLA2R immune-complex deposition)\n", + " \n", + " \n", + " Potter facies\n", + " definition of HP:0002009 (Potter facies)\n", + " \n", + " \n", + " A facial appearance characteristic of a fetus or neonate due to oligohydramnios experienced in the womb, comprising ocular hypertelorism, low-set ears, receding chin, and flattening of the nose.\n", + " definition of HP:0002009 (Potter facies)\n", + " \n", + " \n", + " Supraauricular pit\n", + " definition of HP:0008606 (Supraauricular pit)\n", + " \n", + " \n", + " Benign congenital lesion of the supraauricular soft tissue consisting of a blind-ending narrow tube or pit.\n", + " definition of HP:0008606 (Supraauricular pit)\n", + " \n", + " \n", + " #Pit above the ear #Supraauricular fistula #Supraauricular sinus #Supraauricular sinuses\n", + " definition of HP:0008606 (Supraauricular pit)\n", + " \n", + " \n", + " Past medical history\n", + " definition of HP:0032443 (Past medical history)\n", + " \n", + " \n", + " In a medical encounter, the physician generally will interview the patient about his or her current problem, and may perform additional testing. The past medical history (PMH) in contrast records information about the patient's medical, personal and family history that might be relevant to the presenting illness or to provide optimal clinical management. The PMH generally includes (if relevant) other major illnesses, hospitalizations, surgeries, injuries, allergies, gynecologic and obstetric history, family history, personal history including occupational history, alcohol and drug use, etc.\n", + " definition of HP:0032443 (Past medical history)\n", + " \n", + " \n", + " Neoplasm of the respiratory system\n", + " definition of HP:0100606 (Neoplasm of the respiratory system)\n", + " \n", + " \n", + " A tumor (abnormal growth of tissue) of the respiratory system.\n", + " definition of HP:0100606 (Neoplasm of the respiratory system)\n", + " \n", + " \n", + " #Respiratory system tumor #Respiratory system tumour\n", + " definition of HP:0100606 (Neoplasm of the respiratory system)\n", + " \n", + " \n", + " Arteriovenous fistulas of celiac and mesenteric vessels\n", + " definition of HP:0002642 (Arteriovenous fistulas of celiac and mesenteric vessels)\n", + " \n", + " \n", + " #Arteriovenous fistulas of coeliac and mesenteric vessels\n", + " definition of HP:0002642 (Arteriovenous fistulas of celiac and mesenteric vessels)\n", + " \n", + " \n", + " Abnormal left hemidiaphragm morphology\n", + " definition of HP:0040046 (Abnormal left hemidiaphragm morphology)\n", + " \n", + " \n", + " #Abnormality of the left hemidiaphragm\n", + " definition of HP:0040046 (Abnormal left hemidiaphragm morphology)\n", + " \n", + " \n", + " Vertebra plana\n", + " definition of HP:6001053 (Vertebra plana)\n", + " \n", + " \n", + " he term given when a vertebral body has lost almost its entire height anteriorly and posteriorly, representing a very advanced compression fracture.\n", + " definition of HP:6001053 (Vertebra plana)\n", + " \n", + " \n", + " #Pancake vertebra #Silver dollar vertebra\n", + " definition of HP:6001053 (Vertebra plana)\n", + " \n", + " \n", + " Excessive insulin response to glucagon test\n", + " definition of HP:0031084 (Excessive insulin response to glucagon test)\n", + " \n", + " \n", + " An abnormally high increase in insulin levels following a glucagon stimulation test.\n", + " definition of HP:0031084 (Excessive insulin response to glucagon test)\n", + " \n", + " \n", + " Aortic elastic fiber disorganization\n", + " definition of HP:0032085 (Aortic elastic fiber disorganization)\n", + " \n", + " \n", + " Nonparallel arrangement/disarray of elastic fibers of the media of the aorta as identified on a stain for elastic fibers.\n", + " definition of HP:0032085 (Aortic elastic fiber disorganization)\n", + " \n", + " \n", + " #Aortic elastic fibre disorganisation\n", + " definition of HP:0032085 (Aortic elastic fiber disorganization)\n", + " \n", + " \n", + " Abnormal hypoxanthine-guanine phosphoribosyltransferase level\n", + " definition of HP:0031821 (Abnormal hypoxanthine-guanine phosphoribosyltransferase level)\n", + " \n", + " \n", + " Altered level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate.\n", + " definition of HP:0031821 (Abnormal hypoxanthine-guanine phosphoribosyltransferase level)\n", + " \n", + " \n", + " #Abnormal 6-hydroxypurine phosphoribosyltransferase level #Abnormal GMP pyrophosphorylase level #Abnormal GPRT level\n", + " definition of HP:0031821 (Abnormal hypoxanthine-guanine phosphoribosyltransferase level)\n", + " \n", + " \n", + " Neck flexor weakness\n", + " definition of HP:0003722 (Neck flexor weakness)\n", + " \n", + " \n", + " Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior).\n", + " definition of HP:0003722 (Neck flexor weakness)\n", + " \n", + " \n", + " #Neck flexion weakness #Neck flexor muscle weakness\n", + " definition of HP:0003722 (Neck flexor weakness)\n", + " \n", + " \n", + " Hypoplastic nipples\n", + " definition of HP:0002557 (Hypoplastic nipples)\n", + " \n", + " \n", + " Underdevelopment of the nipple.\n", + " definition of HP:0002557 (Hypoplastic nipples)\n", + " \n", + " \n", + " #Nipple hypoplasia #Small nipples\n", + " definition of HP:0002557 (Hypoplastic nipples)\n", + " \n", + " \n", + " Abnormality of dorsal nasal artery\n", + " definition of HP:3000039 (Abnormality of dorsal nasal artery)\n", + " \n", + " \n", + " An abnormality of a dorsal nasal artery.\n", + " definition of HP:3000039 (Abnormality of dorsal nasal artery)\n", + " \n", + " \n", + " Abnormal CSF aspartate family amino acid concentration\n", + " definition of HP:0500205 (Abnormal CSF aspartate family amino acid concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of aspartate-family amino acids in the cerebrospinal fluid.\n", + " definition of HP:0500205 (Abnormal CSF aspartate family amino acid concentration)\n", + " \n", + " \n", + " #Abnormal aspartate-family amino acid levels in cerebrospinal fluid\n", + " definition of HP:0500205 (Abnormal CSF aspartate family amino acid concentration)\n", + " \n", + " \n", + " Delayed distal femoral epiphyseal ossification\n", + " definition of HP:6000866 (Delayed distal femoral epiphyseal ossification)\n", + " \n", + " \n", + " Developmental delay of ossification of the distal epiphysis of the femur.\n", + " definition of HP:6000866 (Delayed distal femoral epiphyseal ossification)\n", + " \n", + " \n", + " Megalocornea\n", + " definition of HP:0000485 (Megalocornea)\n", + " \n", + " \n", + " An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age.\n", + " definition of HP:0000485 (Megalocornea)\n", + " \n", + " \n", + " #Anterior megalophthalmos #Enlarged cornea #Increased corneal diameter #Macrocornea\n", + " definition of HP:0000485 (Megalocornea)\n", + " \n", + " \n", + " Functional abnormality of the middle ear\n", + " definition of HP:0011452 (Functional abnormality of the middle ear)\n", + " \n", + " \n", + " An abnormality of the function of the middle ear.\n", + " definition of HP:0011452 (Functional abnormality of the middle ear)\n", + " \n", + " \n", + " #Functional abnormality of the middle ear\n", + " definition of HP:0011452 (Functional abnormality of the middle ear)\n", + " \n", + " \n", + " Narrow carpal joint spaces\n", + " definition of HP:0004264 (Narrow carpal joint spaces)\n", + " \n", + " \n", + " #Decreased carpal joint angles\n", + " definition of HP:0004264 (Narrow carpal joint spaces)\n", + " \n", + " \n", + " Lateral displacement of patellae\n", + " definition of HP:0006397 (Lateral displacement of patellae)\n", + " \n", + " \n", + " Age of death\n", + " definition of HP:0011420 (Age of death)\n", + " \n", + " \n", + " The age group when the cessation of life happens.\n", + " definition of HP:0011420 (Age of death)\n", + " \n", + " \n", + " Fractured phalanx of manus\n", + " definition of HP:0041241 (Fractured phalanx of manus)\n", + " \n", + " \n", + " A partial or complete breakage of the phalanx of manus.\n", + " definition of HP:0041241 (Fractured phalanx of manus)\n", + " \n", + " \n", + " #bone phalanx of manus\n", + " definition of HP:0041241 (Fractured phalanx of manus)\n", + " \n", + " \n", + " Bracket epiphysis of the proximal phalanx of the 3rd toe\n", + " definition of HP:0100158 (Bracket epiphysis of the proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Bracket shaped end part of the innermost bone of 3rd toe\n", + " definition of HP:0100158 (Bracket epiphysis of the proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Increased CSF alpha-aminobutyrate concentration\n", + " definition of HP:0500248 (Increased CSF alpha-aminobutyrate concentration)\n", + " \n", + " \n", + " Concentration of alpha-aminobutyrate in the cerebrospinal fluid above the upper limit of normal.\n", + " definition of HP:0500248 (Increased CSF alpha-aminobutyrate concentration)\n", + " \n", + " \n", + " #High alpha-aminobutyrate levels in cerebrospinal fluid\n", + " definition of HP:0500248 (Increased CSF alpha-aminobutyrate concentration)\n", + " \n", + " \n", + " Third degree atrioventricular block\n", + " definition of HP:0001709 (Third degree atrioventricular block)\n", + " \n", + " \n", + " Third-degree atrioventricular (AV) block (also referred to as complete heart block) is the complete dissociation of the atria and the ventricles. Third-degree AV block exists when more P waves than QRS complexes exist and no relationship (no conduction) exists between them.\n", + " definition of HP:0001709 (Third degree atrioventricular block)\n", + " \n", + " \n", + " #Complete heart block\n", + " definition of HP:0001709 (Third degree atrioventricular block)\n", + " \n", + " \n", + " Biceps hypoplasia\n", + " definition of HP:0009007 (Biceps hypoplasia)\n", + " \n", + " \n", + " Underdevelopment of the biceps muscle.\n", + " definition of HP:0009007 (Biceps hypoplasia)\n", + " \n", + " \n", + " #Hypoplastic biceps #Underdeveloped biceps\n", + " definition of HP:0009007 (Biceps hypoplasia)\n", + " \n", + " \n", + " Skin tags\n", + " definition of HP:0010609 (Skin tags)\n", + " \n", + " \n", + " Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumors that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region.\n", + " definition of HP:0010609 (Skin tags)\n", + " \n", + " \n", + " #Acrochorda\n", + " definition of HP:0010609 (Skin tags)\n", + " \n", + " \n", + " Upper limb muscle hypoplasia\n", + " definition of HP:0009016 (Upper limb muscle hypoplasia)\n", + " \n", + " \n", + " Underdevelopment of muscles of the arm.\n", + " definition of HP:0009016 (Upper limb muscle hypoplasia)\n", + " \n", + " \n", + " #Underdevelopment of upper limb muscles\n", + " definition of HP:0009016 (Upper limb muscle hypoplasia)\n", + " \n", + " \n", + " Abnormal T cell count\n", + " definition of HP:0011839 (Abnormal T cell count)\n", + " \n", + " \n", + " A deviation from the normal count of T cells.\n", + " definition of HP:0011839 (Abnormal T cell count)\n", + " \n", + " \n", + " #Abnormal number of T cells #Abnormality of T cell number\n", + " definition of HP:0011839 (Abnormal T cell count)\n", + " \n", + " \n", + " Hypoplastic hippocampus\n", + " definition of HP:0025517 (Hypoplastic hippocampus)\n", + " \n", + " \n", + " Underdevelopment of the hippocampus.\n", + " definition of HP:0025517 (Hypoplastic hippocampus)\n", + " \n", + " \n", + " #Small hippocampus #Underdeveloped hippocampus\n", + " definition of HP:0025517 (Hypoplastic hippocampus)\n", + " \n", + " \n", + " Minifascicle formation\n", + " definition of HP:0031001 (Minifascicle formation)\n", + " \n", + " \n", + " A nerve fascicle or fasciculus is a small bundle of axons, enclosed by the perineurium. A minifascule refers to a group of thinly myelinated and unmyelinated axons surrounded by a delicate perineurium, and with a smaller diameter than a normal nerve fascicle.\n", + " definition of HP:0031001 (Minifascicle formation)\n", + " \n", + " \n", + " Bracket epiphysis of the distal phalanx of the 2nd finger\n", + " definition of HP:0009503 (Bracket epiphysis of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " An abnormality of the distal phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.\n", + " definition of HP:0009503 (Bracket epiphysis of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Bracket shaped end part of the outermost bone of the index finger\n", + " definition of HP:0009503 (Bracket epiphysis of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Reduced circulating transferrin concentration\n", + " definition of HP:0032387 (Reduced circulating transferrin concentration)\n", + " \n", + " \n", + " An abnormally decreased concentration of transferrin in the blood circulation.\n", + " definition of HP:0032387 (Reduced circulating transferrin concentration)\n", + " \n", + " \n", + " #Reduced transferrin level\n", + " definition of HP:0032387 (Reduced circulating transferrin concentration)\n", + " \n", + " \n", + " Bone pain\n", + " definition of HP:0002653 (Bone pain)\n", + " \n", + " \n", + " An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.\n", + " definition of HP:0002653 (Bone pain)\n", + " \n", + " \n", + " #Bone pain\n", + " definition of HP:0002653 (Bone pain)\n", + " \n", + " \n", + " Ureterovesical junction obstruction\n", + " definition of HP:0030735 (Ureterovesical junction obstruction)\n", + " \n", + " \n", + " Blockage at the level of the bladder and the ureter caused by stenosis of the ureteral valves or failure of a narrow juxtavesical ureteral segment to dilate due to segmented fibrosis or localized absence of muscle.\n", + " definition of HP:0030735 (Ureterovesical junction obstruction)\n", + " \n", + " \n", + " Elevated circulating proinsulin concentration\n", + " definition of HP:6000419 (Elevated circulating proinsulin concentration)\n", + " \n", + " \n", + " The concentration of proinsulin in the blood circulation is above the upper limit of normal.\n", + " definition of HP:6000419 (Elevated circulating proinsulin concentration)\n", + " \n", + " \n", + " #Elevated plasma proinsulin\n", + " definition of HP:6000419 (Elevated circulating proinsulin concentration)\n", + " \n", + " \n", + " Reduced terminal:vellus ratio\n", + " definition of HP:0032497 (Reduced terminal:vellus ratio)\n", + " \n", + " \n", + " A terminal:vellus ratio under 4:1 is characteristic of androgenetic alopecia.\n", + " definition of HP:0032497 (Reduced terminal:vellus ratio)\n", + " \n", + " \n", + " Abnormal blink rate\n", + " definition of HP:0034775 (Abnormal blink rate)\n", + " \n", + " \n", + " A deviation from the normal frequency of blinking the eye.\n", + " definition of HP:0034775 (Abnormal blink rate)\n", + " \n", + " \n", + " Anti-GT1b antibody positivity\n", + " definition of HP:0034131 (Anti-GT1b antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against T1b ganglioside.\n", + " definition of HP:0034131 (Anti-GT1b antibody positivity)\n", + " \n", + " \n", + " Anti-Ki antibody positivity\n", + " definition of HP:0034154 (Anti-Ki antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ki.\n", + " definition of HP:0034154 (Anti-Ki antibody positivity)\n", + " \n", + " \n", + " Lack of peer relationships\n", + " definition of HP:0002332 (Lack of peer relationships)\n", + " \n", + " \n", + " The state of not having relationships with peers outside of school or organized activity appropriate to developmental level. This may be caused by behavioral or physical barriers.\n", + " definition of HP:0002332 (Lack of peer relationships)\n", + " \n", + " \n", + " Marked delay in eruption of permanent teeth\n", + " definition of HP:0006291 (Marked delay in eruption of permanent teeth)\n", + " \n", + " \n", + " #Severe delay of eruption of adult teeth #Severe delay of eruption of permanent teeth #Very late eruption of adult teeth #Very late eruption of permanent teeth\n", + " definition of HP:0006291 (Marked delay in eruption of permanent teeth)\n", + " \n", + " \n", + " Hyperchromasia of renal tubular epithelial cells\n", + " definition of HP:0032621 (Hyperchromasia of renal tubular epithelial cells)\n", + " \n", + " \n", + " At least one tubular cross section with all tubular epithelial nuclei having a chromatin pattern resembling normal mature lymphocytes.\n", + " definition of HP:0032621 (Hyperchromasia of renal tubular epithelial cells)\n", + " \n", + " \n", + " #Condensed chromatin of renal tubular epithelial cells\n", + " definition of HP:0032621 (Hyperchromasia of renal tubular epithelial cells)\n", + " \n", + " \n", + " Sclerotic foci in forearm bones\n", + " definition of HP:0003966 (Sclerotic foci in forearm bones)\n", + " \n", + " \n", + " Increased CSF urate concentration\n", + " definition of HP:0410199 (Increased CSF urate concentration)\n", + " \n", + " \n", + " Increased concentration of urate in the cerebrospinal fluid.\n", + " definition of HP:0410199 (Increased CSF urate concentration)\n", + " \n", + " \n", + " #Elevated CSF urate concentration #Increased cerebrospinal fluid urate\n", + " definition of HP:0410199 (Increased CSF urate concentration)\n", + " \n", + " \n", + " Abnormality of neutrophil physiology\n", + " definition of HP:0011990 (Abnormality of neutrophil physiology)\n", + " \n", + " \n", + " A functional abnormality of neutrophils.\n", + " definition of HP:0011990 (Abnormality of neutrophil physiology)\n", + " \n", + " \n", + " Lymph-node capsular invasion by lymphocytes\n", + " definition of HP:0020237 (Lymph-node capsular invasion by lymphocytes)\n", + " \n", + " \n", + " Migration of substantial numbers of lymphocytes into the capsule of a lymph node.\n", + " definition of HP:0020237 (Lymph-node capsular invasion by lymphocytes)\n", + " \n", + " \n", + " Lower eyelid edema\n", + " definition of HP:0012568 (Lower eyelid edema)\n", + " \n", + " \n", + " Edema in the region of the Lower eyelid.\n", + " definition of HP:0012568 (Lower eyelid edema)\n", + " \n", + " \n", + " #Cellulitis of lower eyelid #Fullness of lower eyelid #Lower eyelid oedema #Puffiness of lower eyelid #Swelling of lower eyelid\n", + " definition of HP:0012568 (Lower eyelid edema)\n", + " \n", + " \n", + " Muscle hemorrhage\n", + " definition of HP:0040242 (Muscle hemorrhage)\n", + " \n", + " \n", + " Bleeding occurring within a muscle\n", + " definition of HP:0040242 (Muscle hemorrhage)\n", + " \n", + " \n", + " #Muscle haemorrhage\n", + " definition of HP:0040242 (Muscle hemorrhage)\n", + " \n", + " \n", + " Abnormal circulating proteinogenic amino acid derivative concentration\n", + " definition of HP:0033108 (Abnormal circulating proteinogenic amino acid derivative concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration in the blood circulation of a compound that is derived from an amino acid.\n", + " definition of HP:0033108 (Abnormal circulating proteinogenic amino acid derivative concentration)\n", + " \n", + " \n", + " Broad distal phalanx of the toes\n", + " definition of HP:0010186 (Broad distal phalanx of the toes)\n", + " \n", + " \n", + " Increased width of the distal phalanx of toe of one or more toes.\n", + " definition of HP:0010186 (Broad distal phalanx of the toes)\n", + " \n", + " \n", + " #Broad outermost bone of the toe #Wide outermost bone of the toe\n", + " definition of HP:0010186 (Broad distal phalanx of the toes)\n", + " \n", + " \n", + " Elevated urine guanidinoacetic acid level\n", + " definition of HP:0040419 (Elevated urine guanidinoacetic acid level)\n", + " \n", + " \n", + " The concentration of guanidinoacetic acid in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:0040419 (Elevated urine guanidinoacetic acid level)\n", + " \n", + " \n", + " Crowded maxillary incisors\n", + " definition of HP:0006333 (Crowded maxillary incisors)\n", + " \n", + " \n", + " A type of dental misalignment with crowded central incisors, i.e., of maxillary secondary incisor, or of maxillary central primary incisor.\n", + " definition of HP:0006333 (Crowded maxillary incisors)\n", + " \n", + " \n", + " #Crowded upper front teeth #Crowded upper incisors #Overlapped maxillary incisors #Overlapped upper front teeth\n", + " definition of HP:0006333 (Crowded maxillary incisors)\n", + " \n", + " \n", + " Generalized lymphadenopathy\n", + " definition of HP:0008940 (Generalized lymphadenopathy)\n", + " \n", + " \n", + " A generalized form of lymphadenopathy.\n", + " definition of HP:0008940 (Generalized lymphadenopathy)\n", + " \n", + " \n", + " #Generalised lymphadenopathy #Generalised swelling of lymph nodes #Generalized swelling of lymph nodes #Swollen lymph nodes affecting all regions of the body\n", + " definition of HP:0008940 (Generalized lymphadenopathy)\n", + " \n", + " \n", + " Proximal/middle symphalangism of 5th finger\n", + " definition of HP:0009177 (Proximal/middle symphalangism of 5th finger)\n", + " \n", + " \n", + " Fusion of the proximal and middle phalanges of the 5th finger.\n", + " definition of HP:0009177 (Proximal/middle symphalangism of 5th finger)\n", + " \n", + " \n", + " #Fused innermost and middle bones of little finger #Fused innermost and middle bones of pinkie finger #Fused innermost and middle bones of pinky finger #Proximal 5th finger symphalangism #Proximal fifth finger symphalangism #Symphalangism of the proximal and middle phalanges of the 5th finger\n", + " definition of HP:0009177 (Proximal/middle symphalangism of 5th finger)\n", + " \n", + " \n", + " Triangular epiphysis of the middle phalanx of the 5th finger\n", + " definition of HP:0009213 (Triangular epiphysis of the middle phalanx of the 5th finger)\n", + " \n", + " \n", + " A triangular appearance of the epiphysis of the middle phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.\n", + " definition of HP:0009213 (Triangular epiphysis of the middle phalanx of the 5th finger)\n", + " \n", + " \n", + " #Delta-shaped epiphysis of the middle phalanx of the 5th finger #Triangular end part of the middle bone of the little finger #Triangular end part of the middle bone of the pinkie finger #Triangular end part of the middle bone of the pinky finger\n", + " definition of HP:0009213 (Triangular epiphysis of the middle phalanx of the 5th finger)\n", + " \n", + " \n", + " History of facial cosmetic use\n", + " definition of HP:6000297 (History of facial cosmetic use)\n", + " \n", + " \n", + " A medical history of use of facial makeup.\n", + " definition of HP:6000297 (History of facial cosmetic use)\n", + " \n", + " \n", + " #Use of makeup on face\n", + " definition of HP:6000297 (History of facial cosmetic use)\n", + " \n", + " \n", + " Brief tear break-up time\n", + " definition of HP:6000069 (Brief tear break-up time)\n", + " \n", + " \n", + " Tear film break up time (number of seconds that elapse between the last blink and the appearance of the first dry spot in the tear film) below the lower limit of normal.\n", + " definition of HP:6000069 (Brief tear break-up time)\n", + " \n", + " \n", + " Aplastic nasopharyngeal adenoids\n", + " definition of HP:0040259 (Aplastic nasopharyngeal adenoids)\n", + " \n", + " \n", + " Absence of the nasopharyngeal adenoids as a developmental defect.\n", + " definition of HP:0040259 (Aplastic nasopharyngeal adenoids)\n", + " \n", + " \n", + " Lip discoloration\n", + " definition of HP:0025118 (Lip discoloration)\n", + " \n", + " \n", + " Lightening or darkening of the lips from their usual coloring.\n", + " definition of HP:0025118 (Lip discoloration)\n", + " \n", + " \n", + " Finger flexor weakness\n", + " definition of HP:0031177 (Finger flexor weakness)\n", + " \n", + " \n", + " Reduced ability to flex (bend) the fingers. This can manifest as incomplete closure of the hand due to weakness in finger flexion.\n", + " definition of HP:0031177 (Finger flexor weakness)\n", + " \n", + " \n", + " Decreased 3-hydroxyacyl-CoA dehydrogenase level\n", + " definition of HP:0100950 (Decreased 3-hydroxyacyl-CoA dehydrogenase level)\n", + " \n", + " \n", + " Alternating hypotropia\n", + " definition of HP:0500078 (Alternating hypotropia)\n", + " \n", + " \n", + " A type of vertical tropia in which, when one eye is fixing, the other eye is deviated downwards.\n", + " definition of HP:0500078 (Alternating hypotropia)\n", + " \n", + " \n", + " Abnormal sperm neck morphology\n", + " definition of HP:0012866 (Abnormal sperm neck morphology)\n", + " \n", + " \n", + " A structural abnormality of the sperm neck.\n", + " definition of HP:0012866 (Abnormal sperm neck morphology)\n", + " \n", + " \n", + " #Sperm neck anomaly\n", + " definition of HP:0012866 (Abnormal sperm neck morphology)\n", + " \n", + " \n", + " Corneal keratic precipitates\n", + " definition of HP:0025341 (Corneal keratic precipitates)\n", + " \n", + " \n", + " An inflammatory cellular deposit deposited on the corneal endothelium and visible as spots on the cornea.\n", + " definition of HP:0025341 (Corneal keratic precipitates)\n", + " \n", + " \n", + " Absent speech\n", + " definition of HP:0001344 (Absent speech)\n", + " \n", + " \n", + " Complete lack of development of speech and language abilities.\n", + " definition of HP:0001344 (Absent speech)\n", + " \n", + " \n", + " #Absent speech development #Lack of language development #Lack of speech #No speech development #No speech or language development #Nonverbal\n", + " definition of HP:0001344 (Absent speech)\n", + " \n", + " \n", + " Abnormality of neuronal migration\n", + " definition of HP:0002269 (Abnormality of neuronal migration)\n", + " \n", + " \n", + " An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain.\n", + " definition of HP:0002269 (Abnormality of neuronal migration)\n", + " \n", + " \n", + " #Abnormal neuronal migration #Heterotopias/abnormal migration #Migrational brain disorder #Neuronal migration disorder\n", + " definition of HP:0002269 (Abnormality of neuronal migration)\n", + " \n", + " \n", + " P mitrale\n", + " definition of HP:0031599 (P mitrale)\n", + " \n", + " \n", + " A broad (120 ms or longer in duration) and bifid P-wave in EKG lead II.\n", + " definition of HP:0031599 (P mitrale)\n", + " \n", + " \n", + " Thinning and bulging of the posterior fossa bones\n", + " definition of HP:0000931 (Thinning and bulging of the posterior fossa bones)\n", + " \n", + " \n", + " #Thinning and bulging of posterior fossa bones #Thinning and bulging of posterior skull bones\n", + " definition of HP:0000931 (Thinning and bulging of the posterior fossa bones)\n", + " \n", + " \n", + " Deuteranopia\n", + " definition of HP:0011521 (Deuteranopia)\n", + " \n", + " \n", + " Complete lack of the M photopigment, which is replaced with the L photopigment. Affected individuals tend to confuse red and green.\n", + " definition of HP:0011521 (Deuteranopia)\n", + " \n", + " \n", + " #Green-blind\n", + " definition of HP:0011521 (Deuteranopia)\n", + " \n", + " \n", + " Multifocal\n", + " definition of HP:0030651 (Multifocal)\n", + " \n", + " \n", + " Shoulder impingement\n", + " definition of HP:0030881 (Shoulder impingement)\n", + " \n", + " \n", + " Trapping and compression of the rotator cuff tendons during shoulder movements.\n", + " definition of HP:0030881 (Shoulder impingement)\n", + " \n", + " \n", + " Abnormal humeral metaphysis morphology\n", + " definition of HP:0003907 (Abnormal humeral metaphysis morphology)\n", + " \n", + " \n", + " #Abnormality of the humeral metaphyses #Abnormality of the wide portion of the long bone in upper arm\n", + " definition of HP:0003907 (Abnormal humeral metaphysis morphology)\n", + " \n", + " \n", + " Supernumerary nipple\n", + " definition of HP:0002558 (Supernumerary nipple)\n", + " \n", + " \n", + " Presence of more than two nipples.\n", + " definition of HP:0002558 (Supernumerary nipple)\n", + " \n", + " \n", + " #accessory mamilla #Accessory nipple #Increased nipple number\n", + " definition of HP:0002558 (Supernumerary nipple)\n", + " \n", + " \n", + " Overtubulated long bones\n", + " definition of HP:0006391 (Overtubulated long bones)\n", + " \n", + " \n", + " Overconstriction, or narrowness of the diaphysis and metaphysis of long bones.\n", + " definition of HP:0006391 (Overtubulated long bones)\n", + " \n", + " \n", + " Arterial occlusion\n", + " definition of HP:0025324 (Arterial occlusion)\n", + " \n", + " \n", + " Blockage of blood flow through an artery.\n", + " definition of HP:0025324 (Arterial occlusion)\n", + " \n", + " \n", + " Filum terminale lipoma\n", + " definition of HP:6000184 (Filum terminale lipoma)\n", + " \n", + " \n", + " Filum terminale lipomas (FTLs) are a type of lumbosacral lipoma in which the fat is entirely within the filum terminale and separate from the conus medullaris.\n", + " definition of HP:6000184 (Filum terminale lipoma)\n", + " \n", + " \n", + " #Fatty filum terminale #LFT #Lipoma of filum terminale #Lipoma of the filum terminale\n", + " definition of HP:6000184 (Filum terminale lipoma)\n", + " \n", + " \n", + " Compression-fractured lumbar vertebra\n", + " definition of HP:0041087 (Compression-fractured lumbar vertebra)\n", + " \n", + " \n", + " A fracture of the lumbar vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging.\n", + " definition of HP:0041087 (Compression-fractured lumbar vertebra)\n", + " \n", + " \n", + " #Compression fractured lumbar vertebra #Wedge fractured lumbar vertebra\n", + " definition of HP:0041087 (Compression-fractured lumbar vertebra)\n", + " \n", + " \n", + " Aminoglycoside exposure\n", + " definition of HP:4000113 (Aminoglycoside exposure)\n", + " \n", + " \n", + " History of having taken aminoglycoside antibiotics.\n", + " definition of HP:4000113 (Aminoglycoside exposure)\n", + " \n", + " \n", + " Anti-Septin-5 antibody\n", + " definition of HP:5000031 (Anti-Septin-5 antibody)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Septin-5.\n", + " definition of HP:5000031 (Anti-Septin-5 antibody)\n", + " \n", + " \n", + " Preauricular pit\n", + " definition of HP:0004467 (Preauricular pit)\n", + " \n", + " \n", + " Small indentation anterior to the insertion of the ear.\n", + " definition of HP:0004467 (Preauricular pit)\n", + " \n", + " \n", + " #Ear pit #Pit in front of the ear #Preauricular earpits #Preauricular fistulas #Preauricular pits #Preauricular sinus\n", + " definition of HP:0004467 (Preauricular pit)\n", + " \n", + " \n", + " Retinopathy of prematurity stage 4a\n", + " definition of HP:0500054 (Retinopathy of prematurity stage 4a)\n", + " \n", + " \n", + " A detachment that involves the peripheral retina that does not extend into the macula.\n", + " definition of HP:0500054 (Retinopathy of prematurity stage 4a)\n", + " \n", + " \n", + " #ROP stage 4a\n", + " definition of HP:0500054 (Retinopathy of prematurity stage 4a)\n", + " \n", + " \n", + " Hypomagnesemia\n", + " definition of HP:0002917 (Hypomagnesemia)\n", + " \n", + " \n", + " An abnormally decreased magnesium concentration in the blood.\n", + " definition of HP:0002917 (Hypomagnesemia)\n", + " \n", + " \n", + " #Low blood magnesium levels #Low blood Mg levels\n", + " definition of HP:0002917 (Hypomagnesemia)\n", + " \n", + " \n", + " Blood pressure substantially higher in legs than arms\n", + " definition of HP:0020141 (Blood pressure substantially higher in legs than arms)\n", + " \n", + " \n", + " An abnormal blood pressure discrepancy between the upper and lower extremities with the blood pressure measured in the legs being much higher than the blood pressure measure in the arms. In healthy individuals, ankle systolic blood pressures are only slightly higher than the systolic blood pressure measured in the arm.\n", + " definition of HP:0020141 (Blood pressure substantially higher in legs than arms)\n", + " \n", + " \n", + " #Blood pressure substantially higher in lower than upper extremities #Blood pressure substantially lower in arms than legs #Blood pressure substantially lower in upper than lower extremities\n", + " definition of HP:0020141 (Blood pressure substantially higher in legs than arms)\n", + " \n", + " \n", + " Buried teeth encased in mucopolysaccharide\n", + " definition of HP:0006326 (Buried teeth encased in mucopolysaccharide)\n", + " \n", + " \n", + " #Failure of dental eruption due to mucopolysaccharidoses #Failure of tooth eruption due to mucopolysaccharidoses #Impacted teeth due to mucopolysaccharidoses #Unerupted dentition due to mucopolysaccharidoses #Unerupted teeth due to mucopolysaccharidoses\n", + " definition of HP:0006326 (Buried teeth encased in mucopolysaccharide)\n", + " \n", + " \n", + " Abnormality of the proximal phalanx of the 3rd finger\n", + " definition of HP:0009358 (Abnormality of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Abnormal innermost bone of middle finger #Abnormality of proximal middle-finger phalanx\n", + " definition of HP:0009358 (Abnormality of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Gerbode ventricular septal defect\n", + " definition of HP:0011621 (Gerbode ventricular septal defect)\n", + " \n", + " \n", + " A type of ventricular septal defect communicating directly between the left ventricle and right atrium. This is anatomically possible because the normal tricuspid valve is more apically displaced than the mitral valve.\n", + " definition of HP:0011621 (Gerbode ventricular septal defect)\n", + " \n", + " \n", + " Overly formal/pedantic language\n", + " definition of HP:5200008 (Overly formal/pedantic language)\n", + " \n", + " \n", + " Use of language that is overly formal, precise, detailed, or pedantic for the social context.\n", + " definition of HP:5200008 (Overly formal/pedantic language)\n", + " \n", + " \n", + " Pulmonary artery vasoconstriction\n", + " definition of HP:0005308 (Pulmonary artery vasoconstriction)\n", + " \n", + " \n", + " Burning eye sensation\n", + " definition of HP:6000420 (Burning eye sensation)\n", + " \n", + " \n", + " A feeling of stinging or irritation of the eyes.\n", + " definition of HP:6000420 (Burning eye sensation)\n", + " \n", + " \n", + " Morgagni diaphragmatic hernia\n", + " definition of HP:0025194 (Morgagni diaphragmatic hernia)\n", + " \n", + " \n", + " An anterior retrosternal or parasternal hernia that can result in the herniation of liver or intestines into the chest cavity.\n", + " definition of HP:0025194 (Morgagni diaphragmatic hernia)\n", + " \n", + " \n", + " #Morgagni hernia\n", + " definition of HP:0025194 (Morgagni diaphragmatic hernia)\n", + " \n", + " \n", + " Abnormal erythrocyte enzyme concentration or activity\n", + " definition of HP:0030272 (Abnormal erythrocyte enzyme concentration or activity)\n", + " \n", + " \n", + " An altered level of any enzyme to act as catalysts within erythrocytes. This term includes changes due to altered activity of an enzyme.\n", + " definition of HP:0030272 (Abnormal erythrocyte enzyme concentration or activity)\n", + " \n", + " \n", + " #Abnormal erythrocyte enzyme level\n", + " definition of HP:0030272 (Abnormal erythrocyte enzyme concentration or activity)\n", + " \n", + " \n", + " Glomerular amyloid subepithelial deposits\n", + " definition of HP:0033599 (Glomerular amyloid subepithelial deposits)\n", + " \n", + " \n", + " A type of fibrillar glomerular subepithelial deposit characterized by extracellular aggregates composed of fine, randomly oriented, non-branching fibrils 8-12 nm in diameter, often forming a cottony mass. This feature is associated with a prominent glomerular basement membrane (GBM) reflecting an diffuse and relatively uniform increase in thickness (subjective estimate).\n", + " definition of HP:0033599 (Glomerular amyloid subepithelial deposits)\n", + " \n", + " \n", + " Anterior open-bite malocclusion\n", + " definition of HP:0009102 (Anterior open-bite malocclusion)\n", + " \n", + " \n", + " Anterior open bite is a malocclusion characterized by a gap between the anterior teeth (incisors), that is, by a deficiency in the normal vertical overlap between antagonist incisal edges when the posterior teeth are in occlusion.\n", + " definition of HP:0009102 (Anterior open-bite malocclusion)\n", + " \n", + " \n", + " #Absence of overlap of anterior upper and lower teeth #Anterior open bite #Anterior open bite between upper and lower teeth #Anterior openbite #AOB #Apertognathia malocclusion #Gap between upper and lower front teeth when biting\n", + " definition of HP:0009102 (Anterior open-bite malocclusion)\n", + " \n", + " \n", + " Alternating radiolucent and radiodense metaphyseal lines\n", + " definition of HP:0031016 (Alternating radiolucent and radiodense metaphyseal lines)\n", + " \n", + " \n", + " Areas of radio-opaque sclerotic bands alternating with those of normal lucency give rise to stripes akin to a zebra.\n", + " definition of HP:0031016 (Alternating radiolucent and radiodense metaphyseal lines)\n", + " \n", + " \n", + " Asymmetry of iris pigmentation\n", + " definition of HP:0200064 (Asymmetry of iris pigmentation)\n", + " \n", + " \n", + " Asymmetry between the two irides or asymmetry between different parts of one iris.\n", + " definition of HP:0200064 (Asymmetry of iris pigmentation)\n", + " \n", + " \n", + " Ocular dyssynergia\n", + " definition of HP:0010868 (Ocular dyssynergia)\n", + " \n", + " \n", + " A type of dyssynergia affecting eye movements and characterized by the inability to smoothly follow a visual target across the visual field.\n", + " definition of HP:0010868 (Ocular dyssynergia)\n", + " \n", + " \n", + " Increased body fat percentage\n", + " definition of HP:0025521 (Increased body fat percentage)\n", + " \n", + " \n", + " The percentage of fat as a part of total body weight above the norm, usually defined as 32% for females and 25% for males.\n", + " definition of HP:0025521 (Increased body fat percentage)\n", + " \n", + " \n", + " Biliary atresia\n", + " definition of HP:0005912 (Biliary atresia)\n", + " \n", + " \n", + " Atresia of the biliary tree.\n", + " definition of HP:0005912 (Biliary atresia)\n", + " \n", + " \n", + " #Biliary duct atresia\n", + " definition of HP:0005912 (Biliary atresia)\n", + " \n", + " \n", + " Elevated circulating DNAJB9 protein concentration\n", + " definition of HP:6000001 (Elevated circulating DNAJB9 protein concentration)\n", + " \n", + " \n", + " Concentration of DnaJ homolog subfamily B member 9 (DNAJB9) in the blood circulation above the upper limit of normal.\n", + " definition of HP:6000001 (Elevated circulating DNAJB9 protein concentration)\n", + " \n", + " \n", + " #DNAJB9 protein level in serum elevated\n", + " definition of HP:6000001 (Elevated circulating DNAJB9 protein concentration)\n", + " \n", + " \n", + " Triangular shaped proximal phalanx of the 2nd finger\n", + " definition of HP:0009587 (Triangular shaped proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Triangular shaped proximal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.\n", + " definition of HP:0009587 (Triangular shaped proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Triangular proximal index finger phalanx #Triangular shaped innermost bone of index finger\n", + " definition of HP:0009587 (Triangular shaped proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Beta 2-microglobulinuria\n", + " definition of HP:0025466 (Beta 2-microglobulinuria)\n", + " \n", + " \n", + " Increased level of beta 2-microglobulins in the urine.\n", + " definition of HP:0025466 (Beta 2-microglobulinuria)\n", + " \n", + " \n", + " Abnormal CSF amino acid concentration\n", + " definition of HP:0500184 (Abnormal CSF amino acid concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of amino acids in the cerebrospinal fluid.\n", + " definition of HP:0500184 (Abnormal CSF amino acid concentration)\n", + " \n", + " \n", + " #Abnormal amino acid levels in cerebrospinal fluid #Abnormal cerebrospinal fluid amino acid level #Abnormal CSF amino acid level\n", + " definition of HP:0500184 (Abnormal CSF amino acid concentration)\n", + " \n", + " \n", + " Bracket epiphysis of the middle phalanx of the 2nd finger\n", + " definition of HP:0009514 (Bracket epiphysis of the middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " An abnormality of the middle phalanx of the second finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.\n", + " definition of HP:0009514 (Bracket epiphysis of the middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Bracket shaped end part of the middle long bone of the index finger\n", + " definition of HP:0009514 (Bracket epiphysis of the middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " Spinal cord granuloma\n", + " definition of HP:6000257 (Spinal cord granuloma)\n", + " \n", + " \n", + " An aggregation of macrophages (forming in response to chronic inflammation) localized in or on the spinal cord.\n", + " definition of HP:6000257 (Spinal cord granuloma)\n", + " \n", + " \n", + " Neonatal bilateral asymmetric epileptic spasm\n", + " definition of HP:0032841 (Neonatal bilateral asymmetric epileptic spasm)\n", + " \n", + " \n", + " Neonatal bilateral asymmetric epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs asymmetrically at both sides of the body.\n", + " definition of HP:0032841 (Neonatal bilateral asymmetric epileptic spasm)\n", + " \n", + " \n", + " Periodontitis\n", + " definition of HP:0000704 (Periodontitis)\n", + " \n", + " \n", + " Inflammation of the periodontium.\n", + " definition of HP:0000704 (Periodontitis)\n", + " \n", + " \n", + " #Pyorrhea\n", + " definition of HP:0000704 (Periodontitis)\n", + " \n", + " \n", + " Status epilepticus with ictal paresis\n", + " definition of HP:0032862 (Status epilepticus with ictal paresis)\n", + " \n", + " \n", + " A type of focal motor status epilepticus characterized by prolonged ictal paresis or inhibitory motor seizures.\n", + " definition of HP:0032862 (Status epilepticus with ictal paresis)\n", + " \n", + " \n", + " #Focal inhibitory status epilepticus\n", + " definition of HP:0032862 (Status epilepticus with ictal paresis)\n", + " \n", + " \n", + " Uncontrolled eye movements\n", + " definition of HP:0007738 (Uncontrolled eye movements)\n", + " \n", + " \n", + " Opto-chiasmatic atrophy\n", + " definition of HP:0034008 (Opto-chiasmatic atrophy)\n", + " \n", + " \n", + " Wasting (atrophy) of the optic chiasm.\n", + " definition of HP:0034008 (Opto-chiasmatic atrophy)\n", + " \n", + " \n", + " Hypoplasia of the primary teeth\n", + " definition of HP:0006334 (Hypoplasia of the primary teeth)\n", + " \n", + " \n", + " Developmental hypoplasia of the primary teeth.\n", + " definition of HP:0006334 (Hypoplasia of the primary teeth)\n", + " \n", + " \n", + " #Decreased size of baby teeth #Decreased size of deciduous teeth #Decreased size of milk teeth #Decreased size of primary teeth #Hypoplastic deciduous teeth #Small baby teeth #Small milk teeth #Small primary teeth #Underdevelopment of baby teeth #Underdevelopment of milk teeth #Underdevelopment of primary teeth\n", + " definition of HP:0006334 (Hypoplasia of the primary teeth)\n", + " \n", + " \n", + " Fragmentation of the epiphysis of the distal phalanx of the 5th toe\n", + " definition of HP:0100206 (Fragmentation of the epiphysis of the distal phalanx of the 5th toe)\n", + " \n", + " \n", + " #Fragmentation of the end part of the outermost bone of the little toe #Fragmentation of the end part of the outermost bone of the pinkie toe #Fragmentation of the end part of the outermost bone of the pinky toe\n", + " definition of HP:0100206 (Fragmentation of the epiphysis of the distal phalanx of the 5th toe)\n", + " \n", + " \n", + " Ventricular flutter\n", + " definition of HP:0011841 (Ventricular flutter)\n", + " \n", + " \n", + " A potentially lethal cardiac arrhythmia characterized by an extremely rapid, hemodynamically unstable ventricular tachycardia (150-300 beats/min) with a large oscillating sine-wave appearance.\n", + " definition of HP:0011841 (Ventricular flutter)\n", + " \n", + " \n", + " Abnormal plantar dermatoglyphics\n", + " definition of HP:0010506 (Abnormal plantar dermatoglyphics)\n", + " \n", + " \n", + " An abnormality of dermatoglyphs on the toes and soles, i.e., an abnormality of the patterns of ridges of the skin of sole of foot.\n", + " definition of HP:0010506 (Abnormal plantar dermatoglyphics)\n", + " \n", + " \n", + " #Abnormal dermatoglyphics on feet #Abnormal prints on feet\n", + " definition of HP:0010506 (Abnormal plantar dermatoglyphics)\n", + " \n", + " \n", + " Generalized hypotonia due to defect at the neuromuscular junction\n", + " definition of HP:0003397 (Generalized hypotonia due to defect at the neuromuscular junction)\n", + " \n", + " \n", + " #Generalised hypotonia due to defect at the neuromuscular junction\n", + " definition of HP:0003397 (Generalized hypotonia due to defect at the neuromuscular junction)\n", + " \n", + " \n", + " Epicanthus inversus\n", + " definition of HP:0000537 (Epicanthus inversus)\n", + " \n", + " \n", + " A fold of skin starting at or just below the medial aspect of the lower lid and arching upward to cover, extend in front of and lateral to the medial canthus.\n", + " definition of HP:0000537 (Epicanthus inversus)\n", + " \n", + " \n", + " Renal hypoplasia/aplasia\n", + " definition of HP:0008678 (Renal hypoplasia/aplasia)\n", + " \n", + " \n", + " Absence or underdevelopment of the kidney.\n", + " definition of HP:0008678 (Renal hypoplasia/aplasia)\n", + " \n", + " \n", + " #Absent/small kidney #Absent/underdeveloped kidney #Renal agenesis/hypoplasia #Renal aplasia/hypoplasia\n", + " definition of HP:0008678 (Renal hypoplasia/aplasia)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the radius\n", + " definition of HP:0006501 (Aplasia/Hypoplasia of the radius)\n", + " \n", + " \n", + " A small/hypoplastic or absent/aplastic radius.\n", + " definition of HP:0006501 (Aplasia/Hypoplasia of the radius)\n", + " \n", + " \n", + " #Absence or underdevelopment of the radius bone of the arm #Absent/small radius #Absent/underdeveloped radius #Radial aplasia/hypoplasia\n", + " definition of HP:0006501 (Aplasia/Hypoplasia of the radius)\n", + " \n", + " \n", + " Abnormal iris vasculature\n", + " definition of HP:0007905 (Abnormal iris vasculature)\n", + " \n", + " \n", + " #Abnormality of iris blood vessels\n", + " definition of HP:0007905 (Abnormal iris vasculature)\n", + " \n", + " \n", + " 2-5 toe syndactyly\n", + " definition of HP:0010715 (2-5 toe syndactyly)\n", + " \n", + " \n", + " Syndactyly with fusion of toes two to five.\n", + " definition of HP:0010715 (2-5 toe syndactyly)\n", + " \n", + " \n", + " #Webbed 2nd-5th toes\n", + " definition of HP:0010715 (2-5 toe syndactyly)\n", + " \n", + " \n", + " Decreased CSF copper concentration\n", + " definition of HP:0034823 (Decreased CSF copper concentration)\n", + " \n", + " \n", + " Concentration of copper in the cerebrospinal fluid (CSF) below the lower limit of normal.\n", + " definition of HP:0034823 (Decreased CSF copper concentration)\n", + " \n", + " \n", + " #Copper low in cerebrospinal fluid\n", + " definition of HP:0034823 (Decreased CSF copper concentration)\n", + " \n", + " \n", + " Chronic decreased circulating IgG1\n", + " definition of HP:0041068 (Chronic decreased circulating IgG1)\n", + " \n", + " \n", + " A lasting decrease of immunoglobulin G1 (IgG1) in the blood.\n", + " definition of HP:0041068 (Chronic decreased circulating IgG1)\n", + " \n", + " \n", + " #Chronic decreased IgG1 in blood\n", + " definition of HP:0041068 (Chronic decreased circulating IgG1)\n", + " \n", + " \n", + " Enlarged fetal cisterna magna\n", + " definition of HP:0011427 (Enlarged fetal cisterna magna)\n", + " \n", + " \n", + " The cisterna magna is measured on a transaxial view of the fetal head angled 15 degrees caudal to the canthomeatal line. The anterior/posterior diameter is taken between the inferior/posterior surface of the vermis of the cerebellum to the inner surface of the cranium. An enlarged cisternal magna is defined by an anterior/posterior diameter of 10 mm or more (PMID:16100637).\n", + " definition of HP:0011427 (Enlarged fetal cisterna magna)\n", + " \n", + " \n", + " #Enlarged foetal cisterna magna\n", + " definition of HP:0011427 (Enlarged fetal cisterna magna)\n", + " \n", + " \n", + " Pachygyria\n", + " definition of HP:0001302 (Pachygyria)\n", + " \n", + " \n", + " Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.\n", + " definition of HP:0001302 (Pachygyria)\n", + " \n", + " \n", + " #Cerebral pachygyria #Fewer and broader ridges in brain #Macrogyria\n", + " definition of HP:0001302 (Pachygyria)\n", + " \n", + " \n", + " Hoarse voice\n", + " definition of HP:0001609 (Hoarse voice)\n", + " \n", + " \n", + " Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.\n", + " definition of HP:0001609 (Hoarse voice)\n", + " \n", + " \n", + " #Hoarse voice #Hoarseness #Husky voice\n", + " definition of HP:0001609 (Hoarse voice)\n", + " \n", + " \n", + " Renal tubular karyomegaly\n", + " definition of HP:6000429 (Renal tubular karyomegaly)\n", + " \n", + " \n", + " Marked enlargement of nuclei observed predominantly in the proximal convoluted tubule cells.\n", + " definition of HP:6000429 (Renal tubular karyomegaly)\n", + " \n", + " \n", + " Elevated CSF dihydrobiopterin concentration\n", + " definition of HP:6000690 (Elevated CSF dihydrobiopterin concentration)\n", + " \n", + " \n", + " Concentration of dihydrobiopterin in the cerebrospinal fluid (CSF) above the upper limit of normal.\n", + " definition of HP:6000690 (Elevated CSF dihydrobiopterin concentration)\n", + " \n", + " \n", + " Carotid artery dilatation\n", + " definition of HP:0012163 (Carotid artery dilatation)\n", + " \n", + " \n", + " A dilatation (balooning or bulging out of the vessel wall) of a carotid artery.\n", + " definition of HP:0012163 (Carotid artery dilatation)\n", + " \n", + " \n", + " Round ear\n", + " definition of HP:0100830 (Round ear)\n", + " \n", + " \n", + " #Round ear\n", + " definition of HP:0100830 (Round ear)\n", + " \n", + " \n", + " Positive mycobacterial synovial nucleic acid test\n", + " definition of HP:6000735 (Positive mycobacterial synovial nucleic acid test)\n", + " \n", + " \n", + " Detection of nucleic acid of mycobacteria in the synovial fluid by a method such as polymerase chain reaction (PCR).\n", + " definition of HP:6000735 (Positive mycobacterial synovial nucleic acid test)\n", + " \n", + " \n", + " Complete left sided absence of pericardium\n", + " definition of HP:0011633 (Complete left sided absence of pericardium)\n", + " \n", + " \n", + " A congenital anomaly with complete lack of the pericardium on the lefthand side of the heart.\n", + " definition of HP:0011633 (Complete left sided absence of pericardium)\n", + " \n", + " \n", + " #Absent lining around of left side of heart\n", + " definition of HP:0011633 (Complete left sided absence of pericardium)\n", + " \n", + " \n", + " Increased adipose tissue\n", + " definition of HP:0009126 (Increased adipose tissue)\n", + " \n", + " \n", + " An increase in adipose tissue mass by hyperplastic growth (increase in the number of adipocytes) or by hypertrophic growth (increase in the size of adipocytes occurring primarily by lipid accumulation within the cell).\n", + " definition of HP:0009126 (Increased adipose tissue)\n", + " \n", + " \n", + " #Increased adipose tissue #Increased fat tissue\n", + " definition of HP:0009126 (Increased adipose tissue)\n", + " \n", + " \n", + " Right ventricular noncompaction cardiomyopathy\n", + " definition of HP:0012816 (Right ventricular noncompaction cardiomyopathy)\n", + " \n", + " \n", + " A predominantly right ventricular variant of isolated noncompaction cardiomyopathy.\n", + " definition of HP:0012816 (Right ventricular noncompaction cardiomyopathy)\n", + " \n", + " \n", + " Myxoid subcutaneous tumors\n", + " definition of HP:0006769 (Myxoid subcutaneous tumors)\n", + " \n", + " \n", + " #Myxoid subcutaneous tumours\n", + " definition of HP:0006769 (Myxoid subcutaneous tumors)\n", + " \n", + " \n", + " Aplasia of the fallopian tube\n", + " definition of HP:0032073 (Aplasia of the fallopian tube)\n", + " \n", + " \n", + " Aplasia, that is failure to develop, of the fallopian tube.\n", + " definition of HP:0032073 (Aplasia of the fallopian tube)\n", + " \n", + " \n", + " Flatulence\n", + " definition of HP:0033589 (Flatulence)\n", + " \n", + " \n", + " Passage of excessive amounts of gas and the feeling of abdominal fullness and bloating.\n", + " definition of HP:0033589 (Flatulence)\n", + " \n", + " \n", + " Tracheal hemorrhage\n", + " definition of HP:0034000 (Tracheal hemorrhage)\n", + " \n", + " \n", + " Tracheal hemorrhage is a focal bleeding within the trachea. It be diagnosed by tracheobronchoscopy.\n", + " definition of HP:0034000 (Tracheal hemorrhage)\n", + " \n", + " \n", + " #Tracheal bleeding\n", + " definition of HP:0034000 (Tracheal hemorrhage)\n", + " \n", + " \n", + " Abnormal lip pigmentation\n", + " definition of HP:0032453 (Abnormal lip pigmentation)\n", + " \n", + " \n", + " Abnormal coloring of the lip, whereby the lip discolored, blotchy, or darker or lighter than normal.\n", + " definition of HP:0032453 (Abnormal lip pigmentation)\n", + " \n", + " \n", + " Small epiphysis of the distal phalanx of the 5th toe\n", + " definition of HP:0100210 (Small epiphysis of the distal phalanx of the 5th toe)\n", + " \n", + " \n", + " #Small end part of the outermost bone of the little toe #Small end part of the outermost bone of the pinkie toe #Small end part of the outermost bone of the pinky toe\n", + " definition of HP:0100210 (Small epiphysis of the distal phalanx of the 5th toe)\n", + " \n", + " \n", + " Absent bronchoalveolar dimeric surfactant-protein B\n", + " definition of HP:0032981 (Absent bronchoalveolar dimeric surfactant-protein B)\n", + " \n", + " \n", + " Significantly decreased level or failed detection of surfactant protein B in broncho-alveolar lavage fluid.\n", + " definition of HP:0032981 (Absent bronchoalveolar dimeric surfactant-protein B)\n", + " \n", + " \n", + " Normochromic microcytic anemia\n", + " definition of HP:0004856 (Normochromic microcytic anemia)\n", + " \n", + " \n", + " A type of anemia characterized by an normal concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes.\n", + " definition of HP:0004856 (Normochromic microcytic anemia)\n", + " \n", + " \n", + " #Normochromic microcytic anaemia\n", + " definition of HP:0004856 (Normochromic microcytic anemia)\n", + " \n", + " \n", + " Abnormal judgment\n", + " definition of HP:5200401 (Abnormal judgment)\n", + " \n", + " \n", + " Beliefs that deviate from what is considered rational or within the range of normal human judgment and belief formation.\n", + " definition of HP:5200401 (Abnormal judgment)\n", + " \n", + " \n", + " #Abnormal beliefs\n", + " definition of HP:5200401 (Abnormal judgment)\n", + " \n", + " \n", + " Abnormality of the kidney\n", + " definition of HP:0000077 (Abnormality of the kidney)\n", + " \n", + " \n", + " An abnormality of the kidney.\n", + " definition of HP:0000077 (Abnormality of the kidney)\n", + " \n", + " \n", + " #Abnormal kidney #Abnormality of the kidney #Renal anomalies #Renal anomaly\n", + " definition of HP:0000077 (Abnormality of the kidney)\n", + " \n", + " \n", + " Pinhole visual acuity 0.4 LogMAR\n", + " definition of HP:0030572 (Pinhole visual acuity 0.4 LogMAR)\n", + " \n", + " \n", + " EEG abnormality\n", + " definition of HP:0002353 (EEG abnormality)\n", + " \n", + " \n", + " Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.\n", + " definition of HP:0002353 (EEG abnormality)\n", + " \n", + " \n", + " #Abnormal EEG #Abnormal electroencephalogram #EEG abnormalities #Electroencephalogram abnormal #Electroencephalogram abnormalities\n", + " definition of HP:0002353 (EEG abnormality)\n", + " \n", + " \n", + " Progressive choreoathetosis\n", + " definition of HP:0007326 (Progressive choreoathetosis)\n", + " \n", + " \n", + " Auditory hallucination\n", + " definition of HP:0008765 (Auditory hallucination)\n", + " \n", + " \n", + " Perception of sounds without auditory stimulus.\n", + " definition of HP:0008765 (Auditory hallucination)\n", + " \n", + " \n", + " #Hallucinations of sound #Hearing sounds\n", + " definition of HP:0008765 (Auditory hallucination)\n", + " \n", + " \n", + " Septo-optic dysplasia\n", + " definition of HP:0100842 (Septo-optic dysplasia)\n", + " \n", + " \n", + " Underdevelopment of the optic nerve and absence of the septum pellucidum.\n", + " definition of HP:0100842 (Septo-optic dysplasia)\n", + " \n", + " \n", + " #De Morsier syndrome\n", + " definition of HP:0100842 (Septo-optic dysplasia)\n", + " \n", + " \n", + " Elevated circulating D-dimer concentration\n", + " definition of HP:0033106 (Elevated circulating D-dimer concentration)\n", + " \n", + " \n", + " An increased concentration of D-dimers, a marker of fibrin degradation, in the blood circulation.\n", + " definition of HP:0033106 (Elevated circulating D-dimer concentration)\n", + " \n", + " \n", + " #Elevated D-dimers #Elevated fibrin degradation fragment concentration\n", + " definition of HP:0033106 (Elevated circulating D-dimer concentration)\n", + " \n", + " \n", + " Hepatosplenomegaly\n", + " definition of HP:0001433 (Hepatosplenomegaly)\n", + " \n", + " \n", + " Simultaneous enlargement of the liver and spleen.\n", + " definition of HP:0001433 (Hepatosplenomegaly)\n", + " \n", + " \n", + " #Enlarged liver and spleen\n", + " definition of HP:0001433 (Hepatosplenomegaly)\n", + " \n", + " \n", + " Sweet craving\n", + " definition of HP:0030221 (Sweet craving)\n", + " \n", + " \n", + " Excessive desire to eat sweet foods.\n", + " definition of HP:0030221 (Sweet craving)\n", + " \n", + " \n", + " #Sweet craving\n", + " definition of HP:0030221 (Sweet craving)\n", + " \n", + " \n", + " Enlarged uterus\n", + " definition of HP:0100878 (Enlarged uterus)\n", + " \n", + " \n", + " #Enlarged uterus\n", + " definition of HP:0100878 (Enlarged uterus)\n", + " \n", + " \n", + " Anti-Zikavirus-specific antibody positivity\n", + " definition of HP:0430066 (Anti-Zikavirus-specific antibody positivity)\n", + " \n", + " \n", + " The presence of antibodies in the blood circulation that react against a component of the Zika virus.\n", + " definition of HP:0430066 (Anti-Zikavirus-specific antibody positivity)\n", + " \n", + " \n", + " Elevated serum-ascites albumin gradient (SAAG)\n", + " definition of HP:6000863 (Elevated serum-ascites albumin gradient (SAAG))\n", + " \n", + " \n", + " An elevation of the serum ascites albumin gradient (SAAG), which is based on the difference between the albumin level of serum and of ascitic fluid, may be used to assess the extent of ascites. The SAAG is thought to reflect the colloid osmotic pressure gradient and the degree of portal hypertension. It has been shown that SAAG is a better discriminator of portal hypertension than ascites. A SAAG of 1.1 gm/dL or higher is considered as high, indicating the presence of portal hypertension, while SAAG less than 1.1 gm/dL is low, indicating the absence of portal hypertension.\n", + " definition of HP:6000863 (Elevated serum-ascites albumin gradient (SAAG))\n", + " \n", + " \n", + " #Abnormally high serum-ascites albumin gradient (SAAG)\n", + " definition of HP:6000863 (Elevated serum-ascites albumin gradient (SAAG))\n", + " \n", + " \n", + " Olivopontocerebellar hypoplasia\n", + " definition of HP:0006955 (Olivopontocerebellar hypoplasia)\n", + " \n", + " \n", + " Hypoplasia of the cerebellum, pontine nuclei, and inferior olivary nucleus.\n", + " definition of HP:0006955 (Olivopontocerebellar hypoplasia)\n", + " \n", + " \n", + " Nystagmus\n", + " definition of HP:0000639 (Nystagmus)\n", + " \n", + " \n", + " Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.\n", + " definition of HP:0000639 (Nystagmus)\n", + " \n", + " \n", + " #Involuntary, rapid, rhythmic eye movements\n", + " definition of HP:0000639 (Nystagmus)\n", + " \n", + " \n", + " Sub-inner limiting membrane hemorrhage\n", + " definition of HP:0031611 (Sub-inner limiting membrane hemorrhage)\n", + " \n", + " \n", + " A type of intraretinal hemorrhage that is located in the superficial retina between the inner limiting membrane and the retinal nerve fiber layer.\n", + " definition of HP:0031611 (Sub-inner limiting membrane hemorrhage)\n", + " \n", + " \n", + " #Sub-ILM haemorrhage #Sub-ILM hemorrhage #Sub-inner limiting membrane haemorrhage\n", + " definition of HP:0031611 (Sub-inner limiting membrane hemorrhage)\n", + " \n", + " \n", + " EMG: chronic denervation signs\n", + " definition of HP:0003444 (EMG: chronic denervation signs)\n", + " \n", + " \n", + " Evidence of chronic denervation on electromyography.\n", + " definition of HP:0003444 (EMG: chronic denervation signs)\n", + " \n", + " \n", + " Exophoria\n", + " definition of HP:0025313 (Exophoria)\n", + " \n", + " \n", + " A form of strabismus with one or both eyes deviated outward to a milder degree than with exotropia.\n", + " definition of HP:0025313 (Exophoria)\n", + " \n", + " \n", + " Hypoplasia of the ulna\n", + " definition of HP:0003022 (Hypoplasia of the ulna)\n", + " \n", + " \n", + " Underdevelopment of the ulna.\n", + " definition of HP:0003022 (Hypoplasia of the ulna)\n", + " \n", + " \n", + " #Hypoplastic ulna #Short ulna #Short ulnae #Ulnar hypoplasia #Underdeveloped inner large forearm bone #Underdeveloped ulna\n", + " definition of HP:0003022 (Hypoplasia of the ulna)\n", + " \n", + " \n", + " Lobular carcinoma in situ\n", + " definition of HP:0030076 (Lobular carcinoma in situ)\n", + " \n", + " \n", + " Decreased fecal pH\n", + " definition of HP:0032490 (Decreased fecal pH)\n", + " \n", + " \n", + " Abnormally low fecal pH, i.e., abnormal acidity of feces.\n", + " definition of HP:0032490 (Decreased fecal pH)\n", + " \n", + " \n", + " #Decreased faecal pH #Stool pH low\n", + " definition of HP:0032490 (Decreased fecal pH)\n", + " \n", + " \n", + " Testicular atrophy\n", + " definition of HP:0000029 (Testicular atrophy)\n", + " \n", + " \n", + " Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility.\n", + " definition of HP:0000029 (Testicular atrophy)\n", + " \n", + " \n", + " #Testicular degeneration\n", + " definition of HP:0000029 (Testicular atrophy)\n", + " \n", + " \n", + " Cortical radial artery foam cell hypercellularity\n", + " definition of HP:0033958 (Cortical radial artery foam cell hypercellularity)\n", + " \n", + " \n", + " A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of lipid-filled cells, often macrophages, with a vacuolated appearance in the lumen of cortical radial artery (also known as the interlobular artery) of the kidney.\n", + " definition of HP:0033958 (Cortical radial artery foam cell hypercellularity)\n", + " \n", + " \n", + " #Endocapillary hypercellularity within interlobular arterial endothelium consisting of foam cells\n", + " definition of HP:0033958 (Cortical radial artery foam cell hypercellularity)\n", + " \n", + " \n", + " Anti-Ku antibody positivity\n", + " definition of HP:0034088 (Anti-Ku antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ku.\n", + " definition of HP:0034088 (Anti-Ku antibody positivity)\n", + " \n", + " \n", + " Proportionate short stature\n", + " definition of HP:0003508 (Proportionate short stature)\n", + " \n", + " \n", + " A kind of short stature in which different regions of the body are shortened to a comparable extent.\n", + " definition of HP:0003508 (Proportionate short stature)\n", + " \n", + " \n", + " #Proportionate small stature #Short stature, proportionate\n", + " definition of HP:0003508 (Proportionate short stature)\n", + " \n", + " \n", + " Fractured epiphysis of third metatarsal bone\n", + " definition of HP:0041195 (Fractured epiphysis of third metatarsal bone)\n", + " \n", + " \n", + " A partial or complete breakage of the epiphysis of third metatarsal bone.\n", + " definition of HP:0041195 (Fractured epiphysis of third metatarsal bone)\n", + " \n", + " \n", + " #bone epiphysis of third metatarsal bone\n", + " definition of HP:0041195 (Fractured epiphysis of third metatarsal bone)\n", + " \n", + " \n", + " Reduced natural killer cell activity\n", + " definition of HP:0012178 (Reduced natural killer cell activity)\n", + " \n", + " \n", + " Reduced ability of the natural killer cell to function in the adaptive immune response.\n", + " definition of HP:0012178 (Reduced natural killer cell activity)\n", + " \n", + " \n", + " Zonular cataract\n", + " definition of HP:0010920 (Zonular cataract)\n", + " \n", + " \n", + " Zonular cataracts are defined to be cataracts that affect specific regions of the lens.\n", + " definition of HP:0010920 (Zonular cataract)\n", + " \n", + " \n", + " Cloacal abnormality\n", + " definition of HP:0012620 (Cloacal abnormality)\n", + " \n", + " \n", + " A developmental anomaly associated with the failure of rectum, vagina, and bladder to separate.\n", + " definition of HP:0012620 (Cloacal abnormality)\n", + " \n", + " \n", + " Atrial fibrillation\n", + " definition of HP:0005110 (Atrial fibrillation)\n", + " \n", + " \n", + " An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute.\n", + " definition of HP:0005110 (Atrial fibrillation)\n", + " \n", + " \n", + " #Quivering upper heart chambers resulting in irregular heartbeat\n", + " definition of HP:0005110 (Atrial fibrillation)\n", + " \n", + " \n", + " Large sella turcica\n", + " definition of HP:0002690 (Large sella turcica)\n", + " \n", + " \n", + " An abnormal enlargement of the sella turcica.\n", + " definition of HP:0002690 (Large sella turcica)\n", + " \n", + " \n", + " #Big sella turcica #Enlarged sella turcica #Hyperplasia of sella turcica #Prominent sella turcica\n", + " definition of HP:0002690 (Large sella turcica)\n", + " \n", + " \n", + " Enlarged epiphysis of the middle phalanx of the 5th finger\n", + " definition of HP:0009206 (Enlarged epiphysis of the middle phalanx of the 5th finger)\n", + " \n", + " \n", + " Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms.\n", + " definition of HP:0009206 (Enlarged epiphysis of the middle phalanx of the 5th finger)\n", + " \n", + " \n", + " #Enlarged end part of the middle bone of the little finger #Enlarged end part of the middle bone of the pinkie finger #Enlarged end part of the middle bone of the pinky finger\n", + " definition of HP:0009206 (Enlarged epiphysis of the middle phalanx of the 5th finger)\n", + " \n", + " \n", + " Mesoaxial polydactyly\n", + " definition of HP:0100260 (Mesoaxial polydactyly)\n", + " \n", + " \n", + " The presence of a supernumerary finger or toe (not a thumb or hallux) involving the third or fourth metacarpal/tarsal with associated osseous syndactyly.\n", + " definition of HP:0100260 (Mesoaxial polydactyly)\n", + " \n", + " \n", + " #Central polydactyly #Intercalary polydactyly\n", + " definition of HP:0100260 (Mesoaxial polydactyly)\n", + " \n", + " \n", + " Abnormality of the fourth metatarsal bone\n", + " definition of HP:0040035 (Abnormality of the fourth metatarsal bone)\n", + " \n", + " \n", + " #Abnormality of the 4th long bone of foot\n", + " definition of HP:0040035 (Abnormality of the fourth metatarsal bone)\n", + " \n", + " \n", + " Type A5 brachydactyly\n", + " definition of HP:0031044 (Type A5 brachydactyly)\n", + " \n", + " \n", + " A type of brachydactyly characterized by absent middle phalanges of digits 2 to 5.\n", + " definition of HP:0031044 (Type A5 brachydactyly)\n", + " \n", + " \n", + " Humeral cortical thickening\n", + " definition of HP:0003868 (Humeral cortical thickening)\n", + " \n", + " \n", + " Recurrent bacterial infections\n", + " definition of HP:0002718 (Recurrent bacterial infections)\n", + " \n", + " \n", + " Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.\n", + " definition of HP:0002718 (Recurrent bacterial infections)\n", + " \n", + " \n", + " #Bacterial infections, recurrent #Frequent bacterial infections #Frequent pyogenic infections #Increased susceptibility to bacterial infections #Recurrent bacterial infections #Recurrent major bacterial infections #Recurrent pyogenic infections #Susceptibility to pyogenic infection\n", + " definition of HP:0002718 (Recurrent bacterial infections)\n", + " \n", + " \n", + " Abnormal nasal mucus secretion\n", + " definition of HP:0031416 (Abnormal nasal mucus secretion)\n", + " \n", + " \n", + " Any deviation from the normal quantity of secretion of nasal mucus, a thick viscous liquid produced by the mucous membranes of the nose.\n", + " definition of HP:0031416 (Abnormal nasal mucus secretion)\n", + " \n", + " \n", + " Pseudoepiphysis of the proximal phalanx of the 2nd toe\n", + " definition of HP:0100129 (Pseudoepiphysis of the proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the second toe.\n", + " definition of HP:0100129 (Pseudoepiphysis of the proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Positive CSF Borrelia burgdorferi antibody positivity\n", + " definition of HP:6000927 (Positive CSF Borrelia burgdorferi antibody positivity)\n", + " \n", + " \n", + " The presence of antibodies in the cerebrospinal fluid (CSF) that react against a component of Borrelia burgdorferi.\n", + " definition of HP:6000927 (Positive CSF Borrelia burgdorferi antibody positivity)\n", + " \n", + " \n", + " Posterior synechiae of the anterior chamber\n", + " definition of HP:0011484 (Posterior synechiae of the anterior chamber)\n", + " \n", + " \n", + " Adhesions between the iris and the lens.\n", + " definition of HP:0011484 (Posterior synechiae of the anterior chamber)\n", + " \n", + " \n", + " #Iridolenticular adhesions #Posterior synechiae\n", + " definition of HP:0011484 (Posterior synechiae of the anterior chamber)\n", + " \n", + " \n", + " Lattice corneal dystrophy\n", + " definition of HP:0001149 (Lattice corneal dystrophy)\n", + " \n", + " \n", + " The presence of fine, branching linear opacities in Bowman's layer in the central area that may spread to the periphery in the clinical course. The deep corneal stroma may be involved but the process does not reach Descemet's membrane. Recurrent corneal erosion may occur. Histologic examination reveals amyloid deposits in the collagen fibers of the cornea.\n", + " definition of HP:0001149 (Lattice corneal dystrophy)\n", + " \n", + " \n", + " #Biber haab dimmer dystrophy\n", + " definition of HP:0001149 (Lattice corneal dystrophy)\n", + " \n", + " \n", + " Pinhole visual acuity 0.2 LogMAR\n", + " definition of HP:0030570 (Pinhole visual acuity 0.2 LogMAR)\n", + " \n", + " \n", + " Synostosis involving the 1st metatarsal\n", + " definition of HP:0010073 (Synostosis involving the 1st metatarsal)\n", + " \n", + " \n", + " #Fusion involving the 1st long bone of foot\n", + " definition of HP:0010073 (Synostosis involving the 1st metatarsal)\n", + " \n", + " \n", + " Shortened O-fucosylated glycan on properdin\n", + " definition of HP:0410344 (Shortened O-fucosylated glycan on properdin)\n", + " \n", + " \n", + " Decreased length of O-fucosylated glycans present on properdin.\n", + " definition of HP:0410344 (Shortened O-fucosylated glycan on properdin)\n", + " \n", + " \n", + " #Presence of terminal O-fucose glycans on properdin\n", + " definition of HP:0410344 (Shortened O-fucosylated glycan on properdin)\n", + " \n", + " \n", + " Small epiphysis of the middle phalanx of the 3rd toe\n", + " definition of HP:0100154 (Small epiphysis of the middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Small end part of the middle bone of the 3rd toe\n", + " definition of HP:0100154 (Small epiphysis of the middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " Absence of memory B cells\n", + " definition of HP:0030251 (Absence of memory B cells)\n", + " \n", + " \n", + " Complete lack of memory B cells, that is, of mature B cell type that is long-lived, readily activated upon re-encounter of its antigenic determinant, and has been selected for expression of higher affinity immunoglobulin.\n", + " definition of HP:0030251 (Absence of memory B cells)\n", + " \n", + " \n", + " Focal aware cognitive seizure with neglect\n", + " definition of HP:0032848 (Focal aware cognitive seizure with neglect)\n", + " \n", + " \n", + " A focal cognitive seizure with neglect characterized by retained awareness throughout the seizure.\n", + " definition of HP:0032848 (Focal aware cognitive seizure with neglect)\n", + " \n", + " \n", + " Elevated urinary 3-hydroxykynurenine level\n", + " definition of HP:6000265 (Elevated urinary 3-hydroxykynurenine level)\n", + " \n", + " \n", + " The amount of 3-hydroxykynurenine in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000265 (Elevated urinary 3-hydroxykynurenine level)\n", + " \n", + " \n", + " Lytic defects of humeral diaphysis\n", + " definition of HP:0003930 (Lytic defects of humeral diaphysis)\n", + " \n", + " \n", + " #Humeral diaphyseal lysis\n", + " definition of HP:0003930 (Lytic defects of humeral diaphysis)\n", + " \n", + " \n", + " Recurrent infections in infancy and early childhood\n", + " definition of HP:0005437 (Recurrent infections in infancy and early childhood)\n", + " \n", + " \n", + " Recurrent infections at an early age with improvement in later childhood.\n", + " definition of HP:0005437 (Recurrent infections in infancy and early childhood)\n", + " \n", + " \n", + " Flattened radial epiphyses\n", + " definition of HP:0004002 (Flattened radial epiphyses)\n", + " \n", + " \n", + " Adenoma sebaceum\n", + " definition of HP:0009720 (Adenoma sebaceum)\n", + " \n", + " \n", + " The presence of a sebaceous adenoma with origin in the sebum secreting cells of the skin.\n", + " definition of HP:0009720 (Adenoma sebaceum)\n", + " \n", + " \n", + " #Facial angiofibromas #Sebaceous adenoma\n", + " definition of HP:0009720 (Adenoma sebaceum)\n", + " \n", + " \n", + " Supracardiac total anomalous pulmonary venous connection\n", + " definition of HP:0011719 (Supracardiac total anomalous pulmonary venous connection)\n", + " \n", + " \n", + " Type 1 total anomalous pulmonary venous connection.\n", + " definition of HP:0011719 (Supracardiac total anomalous pulmonary venous connection)\n", + " \n", + " \n", + " #Supracardiac total anomalous pulmonary venous connexion #Total anomalous pulmonary venous connection, supracardiac #Type 1 total anomalous pulmonary venous connection\n", + " definition of HP:0011719 (Supracardiac total anomalous pulmonary venous connection)\n", + " \n", + " \n", + " Abnormality of multiple cell lineages in the bone marrow\n", + " definition of HP:0012145 (Abnormality of multiple cell lineages in the bone marrow)\n", + " \n", + " \n", + " Usual interstitial pneumonia\n", + " definition of HP:0031950 (Usual interstitial pneumonia)\n", + " \n", + " \n", + " Temporal and spatial heterogeneity in lungs based on presence of fibrosis and honeycombing.\n", + " definition of HP:0031950 (Usual interstitial pneumonia)\n", + " \n", + " \n", + " Abnormality of the acoustic reflex\n", + " definition of HP:0040121 (Abnormality of the acoustic reflex)\n", + " \n", + " \n", + " An abnormality in the reflexive contraction of the middle-ear muscles in response to sound stimulation.\n", + " definition of HP:0040121 (Abnormality of the acoustic reflex)\n", + " \n", + " \n", + " #Abnormal auditory reflex #Abnormal middle-ear-muscles (MEM) reflex #Abnormality of stapedial reflex\n", + " definition of HP:0040121 (Abnormality of the acoustic reflex)\n", + " \n", + " \n", + " Elevated circulating L-alloisoleucine concentration\n", + " definition of HP:0033155 (Elevated circulating L-alloisoleucine concentration)\n", + " \n", + " \n", + " Abnormally increased concentration of L-alloisoleucine in the blood circulation.\n", + " definition of HP:0033155 (Elevated circulating L-alloisoleucine concentration)\n", + " \n", + " \n", + " Myoclonic status epilepticus without coma\n", + " definition of HP:0032668 (Myoclonic status epilepticus without coma)\n", + " \n", + " \n", + " A type of myoclonic status epilepticus in the absence of coma.\n", + " definition of HP:0032668 (Myoclonic status epilepticus without coma)\n", + " \n", + " \n", + " Static ophthalmoparesis\n", + " definition of HP:0008507 (Static ophthalmoparesis)\n", + " \n", + " \n", + " Positive serum amyloid P scintigraphy\n", + " definition of HP:6001100 (Positive serum amyloid P scintigraphy)\n", + " \n", + " \n", + " Detection of abnormal amyloid deposits in the body by 123I-labeled serum amyloid P component (SAP) scintigraphy.\n", + " definition of HP:6001100 (Positive serum amyloid P scintigraphy)\n", + " \n", + " \n", + " #Positive SAP scan\n", + " definition of HP:6001100 (Positive serum amyloid P scintigraphy)\n", + " \n", + " \n", + " Ectopic anterior pituitary gland\n", + " definition of HP:0012731 (Ectopic anterior pituitary gland)\n", + " \n", + " \n", + " Abnormal anatomic location of the anterior pituitary gland.\n", + " definition of HP:0012731 (Ectopic anterior pituitary gland)\n", + " \n", + " \n", + " Cortical radial artery endotheliosis\n", + " definition of HP:0033953 (Cortical radial artery endotheliosis)\n", + " \n", + " \n", + " Enlargement of endothelial cells of the cortical radial arteries (also known as the interlobular arteries) of the kidney because of cytoplasmic swelling.\n", + " definition of HP:0033953 (Cortical radial artery endotheliosis)\n", + " \n", + " \n", + " #Endotheliosis within interlobular arteries\n", + " definition of HP:0033953 (Cortical radial artery endotheliosis)\n", + " \n", + " \n", + " Onychauxis\n", + " definition of HP:0012542 (Onychauxis)\n", + " \n", + " \n", + " Thickened nails without deformity.\n", + " definition of HP:0012542 (Onychauxis)\n", + " \n", + " \n", + " Renal interstitial inflammation\n", + " definition of HP:0032945 (Renal interstitial inflammation)\n", + " \n", + " \n", + " Histopathological findings of inflammation of the renal interstitium potentially involving fibrotic as well as non-fibrotic areas, composed of lymphocytes, monocytes, plasma cells.\n", + " definition of HP:0032945 (Renal interstitial inflammation)\n", + " \n", + " \n", + " Subcortical white matter calcifications\n", + " definition of HP:0007346 (Subcortical white matter calcifications)\n", + " \n", + " \n", + " Small epiphysis of the proximal phalanx of the 4th finger\n", + " definition of HP:0009269 (Small epiphysis of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms.\n", + " definition of HP:0009269 (Small epiphysis of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " #Small end part of the innermost bone of the ring finger\n", + " definition of HP:0009269 (Small epiphysis of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " Mesangial hyaline deposition\n", + " definition of HP:0033234 (Mesangial hyaline deposition)\n", + " \n", + " \n", + " Extracellular mesangial accumulation of moderately electron-dense, generally homogenous, amorphous-appearing extracellular material.\n", + " definition of HP:0033234 (Mesangial hyaline deposition)\n", + " \n", + " \n", + " Cyclic exotropia\n", + " definition of HP:0031716 (Cyclic exotropia)\n", + " \n", + " \n", + " A type of exotropia (divergent strabismus) in which binocular single vision alternates with large angle exotropia in rhythmic cycle.\n", + " definition of HP:0031716 (Cyclic exotropia)\n", + " \n", + " \n", + " Perineal hypospadias\n", + " definition of HP:0000051 (Perineal hypospadias)\n", + " \n", + " \n", + " Hypospadias with location of the urethral meatus in the perineal region.\n", + " definition of HP:0000051 (Perineal hypospadias)\n", + " \n", + " \n", + " Hepatic granulomatosis\n", + " definition of HP:0011955 (Hepatic granulomatosis)\n", + " \n", + " \n", + " The presence of multiple granulomas in the liver as based on pathological examination. Granulomas are small 0.5 to 2 mm collections of modified macrophages called epithelioid cells usually surrounded by lymphocytes.\n", + " definition of HP:0011955 (Hepatic granulomatosis)\n", + " \n", + " \n", + " Pseudoepiphyses\n", + " definition of HP:0010584 (Pseudoepiphyses)\n", + " \n", + " \n", + " Tibial arterial calcification\n", + " definition of HP:0031305 (Tibial arterial calcification)\n", + " \n", + " \n", + " An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the tibial artery.\n", + " definition of HP:0031305 (Tibial arterial calcification)\n", + " \n", + " \n", + " Short 2nd finger\n", + " definition of HP:0009536 (Short 2nd finger)\n", + " \n", + " \n", + " Hypoplasia of the second finger, also known as the index finger.\n", + " definition of HP:0009536 (Short 2nd finger)\n", + " \n", + " \n", + " #Hypoplastic index finger phalanges #Hypoplastic/small index finger #Short index finger #Short index finger phalanges #Short index fingers\n", + " definition of HP:0009536 (Short 2nd finger)\n", + " \n", + " \n", + " Thickened cortex of the radius\n", + " definition of HP:6000811 (Thickened cortex of the radius)\n", + " \n", + " \n", + " Abnormally increased thickness of the cortical layer of the radius.\n", + " definition of HP:6000811 (Thickened cortex of the radius)\n", + " \n", + " \n", + " Renal interstitial calcium phosphate deposits\n", + " definition of HP:0032949 (Renal interstitial calcium phosphate deposits)\n", + " \n", + " \n", + " The presence of interstitial aggregates of purple finely granular/laminated calcium- and phosphate deposits.\n", + " definition of HP:0032949 (Renal interstitial calcium phosphate deposits)\n", + " \n", + " \n", + " Hepatic periportal necrosis\n", + " definition of HP:0002614 (Hepatic periportal necrosis)\n", + " \n", + " \n", + " A type of hepatic necrosis that is concentrated around the necrosis of hepatocytes localized around the intrahepatic branch of portal vein.\n", + " definition of HP:0002614 (Hepatic periportal necrosis)\n", + " \n", + " \n", + " Increased level of galactitol in urine\n", + " definition of HP:0410062 (Increased level of galactitol in urine)\n", + " \n", + " \n", + " An increase in the level of galactitol in the urine.\n", + " definition of HP:0410062 (Increased level of galactitol in urine)\n", + " \n", + " \n", + " Epileptic aura\n", + " definition of HP:0033348 (Epileptic aura)\n", + " \n", + " \n", + " An epileptic aura is a purely subjective clinical manifestation of an epileptic seizure. If an epileptic aura is not followed by loss of awareness or propagation to a bilateral tonic-clonic seizure then it is a type of focal aware non-motor seizure.\n", + " definition of HP:0033348 (Epileptic aura)\n", + " \n", + " \n", + " Broad radius\n", + " definition of HP:0003981 (Broad radius)\n", + " \n", + " \n", + " Increased width of the radius.\n", + " definition of HP:0003981 (Broad radius)\n", + " \n", + " \n", + " #Wide radius\n", + " definition of HP:0003981 (Broad radius)\n", + " \n", + " \n", + " Pulmonary xanthomatosis\n", + " definition of HP:0034626 (Pulmonary xanthomatosis)\n", + " \n", + " \n", + " Lipid deposits localized within the lung. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia.\n", + " definition of HP:0034626 (Pulmonary xanthomatosis)\n", + " \n", + " \n", + " #Lung xanthoma #Pulmonary xanthoma\n", + " definition of HP:0034626 (Pulmonary xanthomatosis)\n", + " \n", + " \n", + " Sclerosis of skull base\n", + " definition of HP:0002694 (Sclerosis of skull base)\n", + " \n", + " \n", + " Increased bone density of the skull base without significant changes in bony contour.\n", + " definition of HP:0002694 (Sclerosis of skull base)\n", + " \n", + " \n", + " #Dense bone of skull base #Hyperossification of skull base #Hyperostosis of skull base #Marked sclerosis of skull base #Sclerosis of cranial base #Sclerosis of the skull base #Sclerotic skull base\n", + " definition of HP:0002694 (Sclerosis of skull base)\n", + " \n", + " \n", + " Elevated blood cadmiun concentration\n", + " definition of HP:6000444 (Elevated blood cadmiun concentration)\n", + " \n", + " \n", + " The concentration of cadmium in the blood is above the upper limit of a guidance value for total blood mercury concentrations that implies possible injurious effects.\n", + " definition of HP:6000444 (Elevated blood cadmiun concentration)\n", + " \n", + " \n", + " Poor wound healing\n", + " definition of HP:0001058 (Poor wound healing)\n", + " \n", + " \n", + " A reduced ability to heal cutaneous wounds.\n", + " definition of HP:0001058 (Poor wound healing)\n", + " \n", + " \n", + " #Poor wound healing\n", + " definition of HP:0001058 (Poor wound healing)\n", + " \n", + " \n", + " Symphalangism affecting the proximal phalanx of the 3rd toe\n", + " definition of HP:0100473 (Symphalangism affecting the proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Fused innermost bone of 3rd toe\n", + " definition of HP:0100473 (Symphalangism affecting the proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Abnormal amplitude of pattern electroretinogram\n", + " definition of HP:0030485 (Abnormal amplitude of pattern electroretinogram)\n", + " \n", + " \n", + " Spinal lipoma\n", + " definition of HP:6000590 (Spinal lipoma)\n", + " \n", + " \n", + " A lipoma that is localized to the spine.\n", + " definition of HP:6000590 (Spinal lipoma)\n", + " \n", + " \n", + " Abnormal glucose-6-phosphate dehydrogenase level in blood\n", + " definition of HP:0410177 (Abnormal glucose-6-phosphate dehydrogenase level in blood)\n", + " \n", + " \n", + " An anomaly in the level of glucose-6-phosphate dehydrogenase in the blood.\n", + " definition of HP:0410177 (Abnormal glucose-6-phosphate dehydrogenase level in blood)\n", + " \n", + " \n", + " #Abnormal G6PD level in blood\n", + " definition of HP:0410177 (Abnormal glucose-6-phosphate dehydrogenase level in blood)\n", + " \n", + " \n", + " Muscle fiber actin filament accumulation\n", + " definition of HP:0025200 (Muscle fiber actin filament accumulation)\n", + " \n", + " \n", + " Accumulation in muscle cells of filaments composed of actin.\n", + " definition of HP:0025200 (Muscle fiber actin filament accumulation)\n", + " \n", + " \n", + " #Muscle fibre actin filament accumulation\n", + " definition of HP:0025200 (Muscle fiber actin filament accumulation)\n", + " \n", + " \n", + " Episodic fatigue\n", + " definition of HP:0012431 (Episodic fatigue)\n", + " \n", + " \n", + " Intermittent and recurrent bouts of a subjective feeling of tiredness characterized by a lack of energy and motivation.\n", + " definition of HP:0012431 (Episodic fatigue)\n", + " \n", + " \n", + " Paraplegia/paraparesis\n", + " definition of HP:0010551 (Paraplegia/paraparesis)\n", + " \n", + " \n", + " Weakness of both lower extremities with sparing of the upper extremities. Paraplegia refers to a severe or complete loss of strength, whereas paraparesis refers to a relatively mild loss of strength.\n", + " definition of HP:0010551 (Paraplegia/paraparesis)\n", + " \n", + " \n", + " Cryoglobulinemia\n", + " definition of HP:0100778 (Cryoglobulinemia)\n", + " \n", + " \n", + " Increased level of cryoglobulins in the blood. Cryoglobulins are abnormal immunoglobulins, especially IGG or IGM, that precipitate spontaneously when serum is cooled below 37 degrees Celsius.\n", + " definition of HP:0100778 (Cryoglobulinemia)\n", + " \n", + " \n", + " #Cryoprecipitable immune complexes\n", + " definition of HP:0100778 (Cryoglobulinemia)\n", + " \n", + " \n", + " Aplasia of the middle phalanges of the toes\n", + " definition of HP:0100387 (Aplasia of the middle phalanges of the toes)\n", + " \n", + " \n", + " #Absent middle toe bones\n", + " definition of HP:0100387 (Aplasia of the middle phalanges of the toes)\n", + " \n", + " \n", + " Myelin outfoldings\n", + " definition of HP:0004336 (Myelin outfoldings)\n", + " \n", + " \n", + " The presence of excessive redundant myelin in the peripheral nerve sheath.\n", + " definition of HP:0004336 (Myelin outfoldings)\n", + " \n", + " \n", + " #Excessive focal folding of myelin sheaths #Irregular myelin foldings\n", + " definition of HP:0004336 (Myelin outfoldings)\n", + " \n", + " \n", + " Rosette-forming glioneuronal tumor\n", + " definition of HP:0025171 (Rosette-forming glioneuronal tumor)\n", + " \n", + " \n", + " A tumor of the central nervous system that has components of both neurocytic and glial areas, whereby usually the glial component of the tumor predominates. Rossette-forming glioneuronal tumors (RGNT) have biphasic cytoarchitecture with two elements; neurocytic rosettes resembling Homer-Wright rosettes, and astrocytic component resembling a pilocytic astrocytoma. RGNTs are low-grade tumors that lack histopathological signs of malignancy.\n", + " definition of HP:0025171 (Rosette-forming glioneuronal tumor)\n", + " \n", + " \n", + " #Rosette-forming glioneuronal neoplasm #Rosette-forming glioneuronal tumor\n", + " definition of HP:0025171 (Rosette-forming glioneuronal tumor)\n", + " \n", + " \n", + " Decreased urinary bile acid level\n", + " definition of HP:6000126 (Decreased urinary bile acid level)\n", + " \n", + " \n", + " The amount of bile acids in the urine, normalized for urine concentration, is below the lower limit of normal.\n", + " definition of HP:6000126 (Decreased urinary bile acid level)\n", + " \n", + " \n", + " Unusual fungal infection\n", + " definition of HP:0020100 (Unusual fungal infection)\n", + " \n", + " \n", + " An unusual fungal infection that is regarded as a sign of a pathological susceptibility to infection by a fungal agent.\n", + " definition of HP:0020100 (Unusual fungal infection)\n", + " \n", + " \n", + " Gowers sign\n", + " definition of HP:0003391 (Gowers sign)\n", + " \n", + " \n", + " A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs.\n", + " definition of HP:0003391 (Gowers sign)\n", + " \n", + " \n", + " #Gower sign #Positive Gower sign #Positive Gowers sign\n", + " definition of HP:0003391 (Gowers sign)\n", + " \n", + " \n", + " Bifid uvula\n", + " definition of HP:0000193 (Bifid uvula)\n", + " \n", + " \n", + " Uvula separated into two parts most easily seen at the tip.\n", + " definition of HP:0000193 (Bifid uvula)\n", + " \n", + " \n", + " #Bifid palatine uvula #Cleft of uvula #Cleft uvula #Forked uvula #Split uvula #Uvula bifida\n", + " definition of HP:0000193 (Bifid uvula)\n", + " \n", + " \n", + " Cone-shaped distal radial epiphysis\n", + " definition of HP:0004000 (Cone-shaped distal radial epiphysis)\n", + " \n", + " \n", + " The distal epiphysis (rounded portion of bone at the far end of the radius distal to the growth plate) has an abnormal cone-shaped appearance.\n", + " definition of HP:0004000 (Cone-shaped distal radial epiphysis)\n", + " \n", + " \n", + " #Chevron-shaped distal radial epiphysis\n", + " definition of HP:0004000 (Cone-shaped distal radial epiphysis)\n", + " \n", + " \n", + " Age-related cortical cataract\n", + " definition of HP:0011143 (Age-related cortical cataract)\n", + " \n", + " \n", + " A type of age-related cataract that primarily affects the cortex of the lens.\n", + " definition of HP:0011143 (Age-related cortical cataract)\n", + " \n", + " \n", + " Intratubular vancomycin casts\n", + " definition of HP:0032626 (Intratubular vancomycin casts)\n", + " \n", + " \n", + " Intratubular casts composed of vancomycin aggregates and uromodulin.\n", + " definition of HP:0032626 (Intratubular vancomycin casts)\n", + " \n", + " \n", + " Abnormal amplitude of pattern reversal visual evoked potentials\n", + " definition of HP:0000650 (Abnormal amplitude of pattern reversal visual evoked potentials)\n", + " \n", + " \n", + " Myelokathexis\n", + " definition of HP:0031160 (Myelokathexis)\n", + " \n", + " \n", + " Impaired egress of mature neutrophils from bone marrow causing neutropenia.\n", + " definition of HP:0031160 (Myelokathexis)\n", + " \n", + " \n", + " Horizontal nystagmus\n", + " definition of HP:0000666 (Horizontal nystagmus)\n", + " \n", + " \n", + " Nystagmus consisting of horizontal to-and-fro eye movements.\n", + " definition of HP:0000666 (Horizontal nystagmus)\n", + " \n", + " \n", + " #Nystagmus, horizontal\n", + " definition of HP:0000666 (Horizontal nystagmus)\n", + " \n", + " \n", + " Microform unilateral cleft lip\n", + " definition of HP:5201002 (Microform unilateral cleft lip)\n", + " \n", + " \n", + " Notch, groove, or scar of the upper lip without noticeable rupture of the lip. Microforms are sometimes associated with disruption of the continuity of the orbicularis oris muscle.\n", + " definition of HP:5201002 (Microform unilateral cleft lip)\n", + " \n", + " \n", + " Abnormality of the pulmonary artery\n", + " definition of HP:0004414 (Abnormality of the pulmonary artery)\n", + " \n", + " \n", + " An abnormality of the pulmonary artery.\n", + " definition of HP:0004414 (Abnormality of the pulmonary artery)\n", + " \n", + " \n", + " #Abnormality of lung artery\n", + " definition of HP:0004414 (Abnormality of the pulmonary artery)\n", + " \n", + " \n", + " Progressive forearm bowing\n", + " definition of HP:0005891 (Progressive forearm bowing)\n", + " \n", + " \n", + " Progressive bending or abnormal curvature of the forearm skeleton.\n", + " definition of HP:0005891 (Progressive forearm bowing)\n", + " \n", + " \n", + " #Progressive forearm curvature\n", + " definition of HP:0005891 (Progressive forearm bowing)\n", + " \n", + " \n", + " Papillary cystadenoma of the epididymis\n", + " definition of HP:0009715 (Papillary cystadenoma of the epididymis)\n", + " \n", + " \n", + " A cystadenoma, an epithelial tumor, that originates within the head of the epididymis.\n", + " definition of HP:0009715 (Papillary cystadenoma of the epididymis)\n", + " \n", + " \n", + " Abnormal spaced incisors\n", + " definition of HP:0040159 (Abnormal spaced incisors)\n", + " \n", + " \n", + " #Abnormal spaced incisors #Abnormality of spacing of front teeth #Abnormality of spacing of incisors\n", + " definition of HP:0040159 (Abnormal spaced incisors)\n", + " \n", + " \n", + " Linear Hyperpigmentation along Blaschko's lines\n", + " definition of HP:6000010 (Linear Hyperpigmentation along Blaschko's lines)\n", + " \n", + " \n", + " Linear streaks and swirls of macular hyperpigmentation along the lines of Blaschko.\n", + " definition of HP:6000010 (Linear Hyperpigmentation along Blaschko's lines)\n", + " \n", + " \n", + " Macrotia\n", + " definition of HP:0000400 (Macrotia)\n", + " \n", + " \n", + " Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).\n", + " definition of HP:0000400 (Macrotia)\n", + " \n", + " \n", + " #Large ears #Large pinnae\n", + " definition of HP:0000400 (Macrotia)\n", + " \n", + " \n", + " Supranuclear gaze palsy\n", + " definition of HP:0000605 (Supranuclear gaze palsy)\n", + " \n", + " \n", + " A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.\n", + " definition of HP:0000605 (Supranuclear gaze palsy)\n", + " \n", + " \n", + " #Supranuclear gaze paralysis\n", + " definition of HP:0000605 (Supranuclear gaze palsy)\n", + " \n", + " \n", + " Wide anterior fontanel\n", + " definition of HP:0000260 (Wide anterior fontanel)\n", + " \n", + " \n", + " Enlargement of the anterior fontanelle with respect to age-dependent norms.\n", + " definition of HP:0000260 (Wide anterior fontanel)\n", + " \n", + " \n", + " #Large anterior fontanel #Large anterior fontanelle #Large open anterior fontanel #Large open anterior fontanelle #Wide anterior fontanelle #Wide open anterior fontanelle #Wider-than-typical soft spot of skull\n", + " definition of HP:0000260 (Wide anterior fontanel)\n", + " \n", + " \n", + " Abnormality of circulating fibrinogen\n", + " definition of HP:0011898 (Abnormality of circulating fibrinogen)\n", + " \n", + " \n", + " An abnormality of the level of activity of circulating fibrinogen.\n", + " definition of HP:0011898 (Abnormality of circulating fibrinogen)\n", + " \n", + " \n", + " Dependency on intravenous nutrition\n", + " definition of HP:0025156 (Dependency on intravenous nutrition)\n", + " \n", + " \n", + " Inability to be weaned from intravenous (parenteral) nutrition, as judged by the hydration status (urine output, blood urea nitrogen, creatinine, urine sodium concentration), ability to maintain weight, stool output, and serum electrolyte status.\n", + " definition of HP:0025156 (Dependency on intravenous nutrition)\n", + " \n", + " \n", + " #Dependency on IV nutrition\n", + " definition of HP:0025156 (Dependency on intravenous nutrition)\n", + " \n", + " \n", + " Symphalangism of the 4th finger\n", + " definition of HP:0004197 (Symphalangism of the 4th finger)\n", + " \n", + " \n", + " Fusion of two or more bones of the 4th finger.\n", + " definition of HP:0004197 (Symphalangism of the 4th finger)\n", + " \n", + " \n", + " #Fused ring finger bones #Symphalangism of the ring finger\n", + " definition of HP:0004197 (Symphalangism of the 4th finger)\n", + " \n", + " \n", + " Left anterior fascicular block\n", + " definition of HP:0011711 (Left anterior fascicular block)\n", + " \n", + " \n", + " Conduction block in the anterior division of the left bundle branch of the bundle of His.\n", + " definition of HP:0011711 (Left anterior fascicular block)\n", + " \n", + " \n", + " #Left anterior hemiblock\n", + " definition of HP:0011711 (Left anterior fascicular block)\n", + " \n", + " \n", + " Cortical radial artery intima/media multilamellation\n", + " definition of HP:0033961 (Cortical radial artery intima/media multilamellation)\n", + " \n", + " \n", + " Myointimal hyperplasia of the inner and middle layer of the cortical radial artery (also known as the interlobular artery) of the kidney, arranged in multiple concentric layers.\n", + " definition of HP:0033961 (Cortical radial artery intima/media multilamellation)\n", + " \n", + " \n", + " #Cortical radial artery intima/media onion skinning #Multilamellation (onion skinning) within interlobular arterial intima/media\n", + " definition of HP:0033961 (Cortical radial artery intima/media multilamellation)\n", + " \n", + " \n", + " Abnormal 1st metacarpal morphology\n", + " definition of HP:0010009 (Abnormal 1st metacarpal morphology)\n", + " \n", + " \n", + " A structural anomaly of the first metacarpal.\n", + " definition of HP:0010009 (Abnormal 1st metacarpal morphology)\n", + " \n", + " \n", + " #Abnormality of the 1st long bone of hand #Abnormality of the 1st metacarpal\n", + " definition of HP:0010009 (Abnormal 1st metacarpal morphology)\n", + " \n", + " \n", + " Periorbital wrinkles\n", + " definition of HP:0000607 (Periorbital wrinkles)\n", + " \n", + " \n", + " #Excess periorbital skin wrinkling #Periorbital rhytids #Periorbital wrinkling #Wrinkles around the eyes\n", + " definition of HP:0000607 (Periorbital wrinkles)\n", + " \n", + " \n", + " Impaired ocular adduction\n", + " definition of HP:0000542 (Impaired ocular adduction)\n", + " \n", + " \n", + " Reduced ability to move the eye in the direction of the nose.\n", + " definition of HP:0000542 (Impaired ocular adduction)\n", + " \n", + " \n", + " Flared, irregular rib ends\n", + " definition of HP:0006603 (Flared, irregular rib ends)\n", + " \n", + " \n", + " #Flared, irregular rib ends\n", + " definition of HP:0006603 (Flared, irregular rib ends)\n", + " \n", + " \n", + " Hip dislocation\n", + " definition of HP:0002827 (Hip dislocation)\n", + " \n", + " \n", + " Displacement of the femur from its normal location in the hip joint.\n", + " definition of HP:0002827 (Hip dislocation)\n", + " \n", + " \n", + " #Dislocated femoral heads #Dislocated hips #Dislocation of hip #Dislocation of the femoral head #Hip dislocation\n", + " definition of HP:0002827 (Hip dislocation)\n", + " \n", + " \n", + " Prominence of the zygomatic bone\n", + " definition of HP:0012370 (Prominence of the zygomatic bone)\n", + " \n", + " \n", + " Large or prominent malar surface of the zygomatic bone of the skull, which is convex and forms the prominence of the 'cheek bones'.\n", + " definition of HP:0012370 (Prominence of the zygomatic bone)\n", + " \n", + " \n", + " #Cheekbone prominence #Malar hypertrophy #Prominence of cheekbone #Pronounced cheekbone\n", + " definition of HP:0012370 (Prominence of the zygomatic bone)\n", + " \n", + " \n", + " Abnormal Pelli Robson contrast sensitivity chart test\n", + " definition of HP:0032112 (Abnormal Pelli Robson contrast sensitivity chart test)\n", + " \n", + " \n", + " An abnormality in perception of contrast as measured by the Pelli-Robson contrast sensitivity chart, which is a large wall-mounted chart, with letters of a fixed size (comprising spatial frequencies appropriate for estimating peak contrast sensitivity) that decrease in contrast.\n", + " definition of HP:0032112 (Abnormal Pelli Robson contrast sensitivity chart test)\n", + " \n", + " \n", + " Vesicular eruption\n", + " definition of HP:0033697 (Vesicular eruption)\n", + " \n", + " \n", + " A type of acute-onset skin rash characterized by multiple vesicles, which are circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point. The fluid contained in a vesicle may be clear, serous, or hemorrhagic.\n", + " definition of HP:0033697 (Vesicular eruption)\n", + " \n", + " \n", + " Curved middle phalanx of the 5th finger\n", + " definition of HP:0009173 (Curved middle phalanx of the 5th finger)\n", + " \n", + " \n", + " Curved appearance of the middle phalanx of the 5th finger.\n", + " definition of HP:0009173 (Curved middle phalanx of the 5th finger)\n", + " \n", + " \n", + " #Curved middle bone of little finger #Curved middle bone of pinkie finger #Curved middle bone of pinky finger\n", + " definition of HP:0009173 (Curved middle phalanx of the 5th finger)\n", + " \n", + " \n", + " Abnormal circulating inhibin B concentration\n", + " definition of HP:0430147 (Abnormal circulating inhibin B concentration)\n", + " \n", + " \n", + " The concentration of inhibin B in the blood circulation is outside the limits of normal.\n", + " definition of HP:0430147 (Abnormal circulating inhibin B concentration)\n", + " \n", + " \n", + " Abnormal right ventricle morphology\n", + " definition of HP:0001707 (Abnormal right ventricle morphology)\n", + " \n", + " \n", + " An abnormality of the right ventricle of the heart.\n", + " definition of HP:0001707 (Abnormal right ventricle morphology)\n", + " \n", + " \n", + " #Abnormality of the right ventricle #Right ventricular abnormality\n", + " definition of HP:0001707 (Abnormal right ventricle morphology)\n", + " \n", + " \n", + " Osteolytic defects of the middle phalanx of the 5th toe\n", + " definition of HP:0100454 (Osteolytic defects of the middle phalanx of the 5th toe)\n", + " \n", + " \n", + " Elevated circulating 21-deoxycortisol concentration\n", + " definition of HP:6000516 (Elevated circulating 21-deoxycortisol concentration)\n", + " \n", + " \n", + " The concentration of 21-deoxycortisol in the blood circulation is above the upper limit of normal.\n", + " definition of HP:6000516 (Elevated circulating 21-deoxycortisol concentration)\n", + " \n", + " \n", + " Abnormal inferior alveolar artery morphology\n", + " definition of HP:3000054 (Abnormal inferior alveolar artery morphology)\n", + " \n", + " \n", + " An abnormality of an inferior alveolar artery.\n", + " definition of HP:3000054 (Abnormal inferior alveolar artery morphology)\n", + " \n", + " \n", + " Elevated urinary D-glyceric acid level\n", + " definition of HP:6000606 (Elevated urinary D-glyceric acid level)\n", + " \n", + " \n", + " The amount of D-glyceric acid in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000606 (Elevated urinary D-glyceric acid level)\n", + " \n", + " \n", + " Hypoplastic distal radial epiphyses\n", + " definition of HP:0006386 (Hypoplastic distal radial epiphyses)\n", + " \n", + " \n", + " Underdevelopment of the distal epiphysis of the radius.\n", + " definition of HP:0006386 (Hypoplastic distal radial epiphyses)\n", + " \n", + " \n", + " Partial duplication of the phalanges of the 4th finger\n", + " definition of HP:0009974 (Partial duplication of the phalanges of the 4th finger)\n", + " \n", + " \n", + " A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 4th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.\n", + " definition of HP:0009974 (Partial duplication of the phalanges of the 4th finger)\n", + " \n", + " \n", + " #Partial duplication of the bones of the ring finger\n", + " definition of HP:0009974 (Partial duplication of the phalanges of the 4th finger)\n", + " \n", + " \n", + " Diaphyseal dysplasia\n", + " definition of HP:0100252 (Diaphyseal dysplasia)\n", + " \n", + " \n", + " Elongated chordae tendinae of the mitral valve\n", + " definition of HP:0025522 (Elongated chordae tendinae of the mitral valve)\n", + " \n", + " \n", + " Abnormal increased in length of the chordae tendinae of the mitral valve.\n", + " definition of HP:0025522 (Elongated chordae tendinae of the mitral valve)\n", + " \n", + " \n", + " Endopolyploidy on chromosome studies of bone marrow\n", + " definition of HP:0003352 (Endopolyploidy on chromosome studies of bone marrow)\n", + " \n", + " \n", + " An increase in the number of chromosome sets per cell in bone marrow cells.\n", + " definition of HP:0003352 (Endopolyploidy on chromosome studies of bone marrow)\n", + " \n", + " \n", + " Retinal arterial tortuosity\n", + " definition of HP:0000631 (Retinal arterial tortuosity)\n", + " \n", + " \n", + " The presence of an increased number of twists and turns of the retinal artery.\n", + " definition of HP:0000631 (Retinal arterial tortuosity)\n", + " \n", + " \n", + " #Retinal artery tortuousity\n", + " definition of HP:0000631 (Retinal arterial tortuosity)\n", + " \n", + " \n", + " Partial hyposmia\n", + " definition of HP:0010635 (Partial hyposmia)\n", + " \n", + " \n", + " Reduced ability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants).\n", + " definition of HP:0010635 (Partial hyposmia)\n", + " \n", + " \n", + " Endometrial carcinoma\n", + " definition of HP:0012114 (Endometrial carcinoma)\n", + " \n", + " \n", + " A carcinoma of the endometrium, the mucous lining of the uterus.\n", + " definition of HP:0012114 (Endometrial carcinoma)\n", + " \n", + " \n", + " Positive urine anion gap\n", + " definition of HP:0025763 (Positive urine anion gap)\n", + " \n", + " \n", + " The urine anion gap (UAG), calculated as [(Na+ + K+) - (Cl-)] has been used to roughly estimate whether urine ammonium is increased or decreased in the evaluation of hyperchloremic metabolic acidosis. The more ammonium in the urine, the lower the UAG is, which achieves negative values within a wide range (0 to -200 mEq/L) during hyperchloremic metabolic acidosis. In patients with distal renal tubular acidosis (RTA) of several etiologies, the UAG is positive, despite the prevailing metabolic acidosis, and this is a useful bedside diagnostic index of impaired ammonium excretion.\n", + " definition of HP:0025763 (Positive urine anion gap)\n", + " \n", + " \n", + " Abnormal circulating leucine concentration\n", + " definition of HP:0004357 (Abnormal circulating leucine concentration)\n", + " \n", + " \n", + " Any deviation from the normal circulation of leucine in the blood circulation.\n", + " definition of HP:0004357 (Abnormal circulating leucine concentration)\n", + " \n", + " \n", + " Positive CSF treponema pallidum nucleic acid test\n", + " definition of HP:6000763 (Positive CSF treponema pallidum nucleic acid test)\n", + " \n", + " \n", + " Detection of Treponema pallidum (syphillis) nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR.\n", + " definition of HP:6000763 (Positive CSF treponema pallidum nucleic acid test)\n", + " \n", + " \n", + " Shark teeth\n", + " definition of HP:4000168 (Shark teeth)\n", + " \n", + " \n", + " Eruption of permanent teeth behind deciduous (baby) teeth before they have fallen out, resulting in a double row of teeth. This phenomen is typically observed between the ages of 5 to 7 years.\n", + " definition of HP:4000168 (Shark teeth)\n", + " \n", + " \n", + " #Cauliflower teeth #Double-parked teeth #Teeth: double row\n", + " definition of HP:4000168 (Shark teeth)\n", + " \n", + " \n", + " Aged leonine appearance\n", + " definition of HP:0008509 (Aged leonine appearance)\n", + " \n", + " \n", + " Femoral neck fracture\n", + " definition of HP:6000655 (Femoral neck fracture)\n", + " \n", + " \n", + " A partial or complete breakage of the neck of femur.\n", + " definition of HP:6000655 (Femoral neck fracture)\n", + " \n", + " \n", + " #Broken femoral neck #Fractured neck of femur\n", + " definition of HP:6000655 (Femoral neck fracture)\n", + " \n", + " \n", + " Cranial asymmetry\n", + " definition of HP:0000267 (Cranial asymmetry)\n", + " \n", + " \n", + " Asymmetry of the bones of the skull.\n", + " definition of HP:0000267 (Cranial asymmetry)\n", + " \n", + " \n", + " #Asymmetry of cranium #Cranial vault asymmetry\n", + " definition of HP:0000267 (Cranial asymmetry)\n", + " \n", + " \n", + " Elevated urine 3-methyl-2-oxovaleric acid level\n", + " definition of HP:0033457 (Elevated urine 3-methyl-2-oxovaleric acid level)\n", + " \n", + " \n", + " Increased amount of 3-methyl-2-oxovaleric acid in the urine.\n", + " definition of HP:0033457 (Elevated urine 3-methyl-2-oxovaleric acid level)\n", + " \n", + " \n", + " Short umbilical cord\n", + " definition of HP:0001196 (Short umbilical cord)\n", + " \n", + " \n", + " Decreased length of the umbilical cord.\n", + " definition of HP:0001196 (Short umbilical cord)\n", + " \n", + " \n", + " #Short umbilical cord\n", + " definition of HP:0001196 (Short umbilical cord)\n", + " \n", + " \n", + " Small intestinal polyp\n", + " definition of HP:0012737 (Small intestinal polyp)\n", + " \n", + " \n", + " A discrete abnormal tissue mass that protrudes into the lumen of the small intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base.\n", + " definition of HP:0012737 (Small intestinal polyp)\n", + " \n", + " \n", + " Methemoglobinemia\n", + " definition of HP:0012119 (Methemoglobinemia)\n", + " \n", + " \n", + " Abnormally increased levels of methemoglobin in the blood. In this form of hemoglobin, there is an oxidized ferric iron (Fe +3) rather than the reduced ferrous form (Fe 2+) that is normally found in hemoglobin. Methemoglobin has a reduced affinity for oxygen, resulting in a reduced ability to release oxygen to tissues.\n", + " definition of HP:0012119 (Methemoglobinemia)\n", + " \n", + " \n", + " Anti-tyrosyl-tRNA synthetase antibody positivity\n", + " definition of HP:0034150 (Anti-tyrosyl-tRNA synthetase antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against tyrosyl-tRNA synthetase.\n", + " definition of HP:0034150 (Anti-tyrosyl-tRNA synthetase antibody positivity)\n", + " \n", + " \n", + " #Anti-Ha antibody positivity\n", + " definition of HP:0034150 (Anti-tyrosyl-tRNA synthetase antibody positivity)\n", + " \n", + " \n", + " Elevated circulating pristanic acid concentration\n", + " definition of HP:0034721 (Elevated circulating pristanic acid concentration)\n", + " \n", + " \n", + " Concentration of pristanic acid in the blood circulation above the upper limit of normal.\n", + " definition of HP:0034721 (Elevated circulating pristanic acid concentration)\n", + " \n", + " \n", + " Erratic myoclonus\n", + " definition of HP:0025357 (Erratic myoclonus)\n", + " \n", + " \n", + " A type of myoclonus in which the myoclonias shift from body region to another in a random and asynchronous fashion. Erratic myoclonus can affect the face or limbs, are brief, single or repetitive, very frequent and nearly continuous.\n", + " definition of HP:0025357 (Erratic myoclonus)\n", + " \n", + " \n", + " #Fragmentary myoclonus\n", + " definition of HP:0025357 (Erratic myoclonus)\n", + " \n", + " \n", + " Fractured phalanx\n", + " definition of HP:0041083 (Fractured phalanx)\n", + " \n", + " \n", + " A partial or complete breakage of the phalanx.\n", + " definition of HP:0041083 (Fractured phalanx)\n", + " \n", + " \n", + " #bone phalanx\n", + " definition of HP:0041083 (Fractured phalanx)\n", + " \n", + " \n", + " Thin lower lip vermilion\n", + " definition of HP:0010282 (Thin lower lip vermilion)\n", + " \n", + " \n", + " Height of the vermilion of the medial part of the lower lip more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the lower lip in the frontal view (subjective).\n", + " definition of HP:0010282 (Thin lower lip vermilion)\n", + " \n", + " \n", + " #Decreased height of lower lip vermilion #Decreased volume of lower lip #Decreased volume of lower lip vermilion #Thin lower lip #Thin vermilion border of lower lip\n", + " definition of HP:0010282 (Thin lower lip vermilion)\n", + " \n", + " \n", + " Ivory epiphyses of the middle phalanges of the hand\n", + " definition of HP:0010263 (Ivory epiphyses of the middle phalanges of the hand)\n", + " \n", + " \n", + " Epiphyses of the middle phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.\n", + " definition of HP:0010263 (Ivory epiphyses of the middle phalanges of the hand)\n", + " \n", + " \n", + " #Increased bone density of end part of the middle hand bones\n", + " definition of HP:0010263 (Ivory epiphyses of the middle phalanges of the hand)\n", + " \n", + " \n", + " Papillary renal cell carcinoma\n", + " definition of HP:0006766 (Papillary renal cell carcinoma)\n", + " \n", + " \n", + " The presence of renal cell carcinoma in the renal papilla.\n", + " definition of HP:0006766 (Papillary renal cell carcinoma)\n", + " \n", + " \n", + " Sclerosis of metaphyses of the upper limbs\n", + " definition of HP:0003854 (Sclerosis of metaphyses of the upper limbs)\n", + " \n", + " \n", + " #Increased bone density in wide portion of the upper limb bones\n", + " definition of HP:0003854 (Sclerosis of metaphyses of the upper limbs)\n", + " \n", + " \n", + " Thoracic dysplasia\n", + " definition of HP:0006644 (Thoracic dysplasia)\n", + " \n", + " \n", + " Calf muscle hypoplasia\n", + " definition of HP:0008962 (Calf muscle hypoplasia)\n", + " \n", + " \n", + " Underdevelopment of the muscuklature of the calf.\n", + " definition of HP:0008962 (Calf muscle hypoplasia)\n", + " \n", + " \n", + " #Hypoplastic calf muscles #Underdeveloped calf muscles\n", + " definition of HP:0008962 (Calf muscle hypoplasia)\n", + " \n", + " \n", + " Aggravated by menstruation\n", + " definition of HP:6000699 (Aggravated by menstruation)\n", + " \n", + " \n", + " Applied to a sign or symptom that is more severe during mensutruation.\n", + " definition of HP:6000699 (Aggravated by menstruation)\n", + " \n", + " \n", + " Cerebral subcortical cyst\n", + " definition of HP:6000461 (Cerebral subcortical cyst)\n", + " \n", + " \n", + " A fluid-filled sac (cyst) in the region below the cortex of the cerebrum. In magnetic resonance imaging, the fluid within the cyst has the same appearance as cerebrospinal fluid (CSF).\n", + " definition of HP:6000461 (Cerebral subcortical cyst)\n", + " \n", + " \n", + " Late first trimester onset\n", + " definition of HP:0034199 (Late first trimester onset)\n", + " \n", + " \n", + " This term refers to a phenotypic feature that was first observed prior to birth in the first trimester during the early fetal period, which is defined as 11 0/7 to 13 6/7 weeks of gestation (inclusive).\n", + " definition of HP:0034199 (Late first trimester onset)\n", + " \n", + " \n", + " #Early fetal onset #Early foetal onset\n", + " definition of HP:0034199 (Late first trimester onset)\n", + " \n", + " \n", + " Hyperketonemia\n", + " definition of HP:0410175 (Hyperketonemia)\n", + " \n", + " \n", + " An increase in the level of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the blood.\n", + " definition of HP:0410175 (Hyperketonemia)\n", + " \n", + " \n", + " #Elevated circulating ketone body concentration #Increased level of ketone bodies in blood #Ketonemia\n", + " definition of HP:0410175 (Hyperketonemia)\n", + " \n", + " \n", + " Neonatal death\n", + " definition of HP:0003811 (Neonatal death)\n", + " \n", + " \n", + " Death within the first 28 days of life.\n", + " definition of HP:0003811 (Neonatal death)\n", + " \n", + " \n", + " #Neonatal lethal\n", + " definition of HP:0003811 (Neonatal death)\n", + " \n", + " \n", + " Apical pulmonary opacity\n", + " definition of HP:0032176 (Apical pulmonary opacity)\n", + " \n", + " \n", + " An apical cap is a caplike lesion at the lung apex, usually caused by intrapulmonary and pleural fibrosis pulling down extrapleural fat or possibly by chronic ischemia resulting in hyaline plaque formation on the visceral pleura. The prevalence increases with age. It can also be seen in hematoma resulting from aortic rupture or in other fluid collection associated with infection or tumor, either outside the parietal pleura or loculated within the pleural space.\n", + " definition of HP:0032176 (Apical pulmonary opacity)\n", + " \n", + " \n", + " #Apical cap #Apical pleural thickening\n", + " definition of HP:0032176 (Apical pulmonary opacity)\n", + " \n", + " \n", + " Abnormal corticospinal tract morphology\n", + " definition of HP:0002492 (Abnormal corticospinal tract morphology)\n", + " \n", + " \n", + " Abnormality of the corticospinal tract, which is the chief element of the pyramidal system (the principle motor tract) and is the only direct connection between the cerebrum and the spinal cord.\n", + " definition of HP:0002492 (Abnormal corticospinal tract morphology)\n", + " \n", + " \n", + " #Morphological abnormality of the corticospinal tract\n", + " definition of HP:0002492 (Abnormal corticospinal tract morphology)\n", + " \n", + " \n", + " Reduced leukocyte alkaline phosphatase\n", + " definition of HP:0004852 (Reduced leukocyte alkaline phosphatase)\n", + " \n", + " \n", + " Decreased alkaline phosphatase measured within leukocytes.\n", + " definition of HP:0004852 (Reduced leukocyte alkaline phosphatase)\n", + " \n", + " \n", + " #Low leukocyte alkaline phosphatase #Reduced leukocyte ALP\n", + " definition of HP:0004852 (Reduced leukocyte alkaline phosphatase)\n", + " \n", + " \n", + " Elevated haptoglobin level\n", + " definition of HP:0020180 (Elevated haptoglobin level)\n", + " \n", + " \n", + " An abnormally high concentration of haptoglobin in the blood circulation. Haptoglobin is an acute-phase reactant whose levels can become elevated in the presence of infection and inflammation.\n", + " definition of HP:0020180 (Elevated haptoglobin level)\n", + " \n", + " \n", + " Hypertyrosinemia\n", + " definition of HP:0003231 (Hypertyrosinemia)\n", + " \n", + " \n", + " An increased concentration of tyrosine in the blood.\n", + " definition of HP:0003231 (Hypertyrosinemia)\n", + " \n", + " \n", + " #Increased tyrosine in blood #Tyrosinemia\n", + " definition of HP:0003231 (Hypertyrosinemia)\n", + " \n", + " \n", + " Foveal photoreceptor outer segment loss on macular OCT\n", + " definition of HP:0030615 (Foveal photoreceptor outer segment loss on macular OCT)\n", + " \n", + " \n", + " Triggered by viral infection\n", + " definition of HP:0033198 (Triggered by viral infection)\n", + " \n", + " \n", + " Applies to a sign or symptom that is provoked or brought about by infection by a virus.\n", + " definition of HP:0033198 (Triggered by viral infection)\n", + " \n", + " \n", + " Atlantoaxial dislocation\n", + " definition of HP:0003414 (Atlantoaxial dislocation)\n", + " \n", + " \n", + " Partial dislocation of the atlantoaxial joint.\n", + " definition of HP:0003414 (Atlantoaxial dislocation)\n", + " \n", + " \n", + " #Atlanto-axial subluxation #Atlantoaxial subluxation\n", + " definition of HP:0003414 (Atlantoaxial dislocation)\n", + " \n", + " \n", + " Urinary hesitancy\n", + " definition of HP:0000019 (Urinary hesitancy)\n", + " \n", + " \n", + " Difficulty in beginning the process of urination.\n", + " definition of HP:0000019 (Urinary hesitancy)\n", + " \n", + " \n", + " #Difficulty with flow\n", + " definition of HP:0000019 (Urinary hesitancy)\n", + " \n", + " \n", + " Subungual hyperkeratosis\n", + " definition of HP:0008392 (Subungual hyperkeratosis)\n", + " \n", + " \n", + " A thickening of the stratum corneum in the region beneath the nails.\n", + " definition of HP:0008392 (Subungual hyperkeratosis)\n", + " \n", + " \n", + " #Thickened, discolored skin under nail #Thickened, discoloured skin under nail\n", + " definition of HP:0008392 (Subungual hyperkeratosis)\n", + " \n", + " \n", + " Abnormal natural killer subset distribution\n", + " definition of HP:0500033 (Abnormal natural killer subset distribution)\n", + " \n", + " \n", + " Any abnormality in the proportion natural killer subsets relative to the total number of natural killer cells.\n", + " definition of HP:0500033 (Abnormal natural killer subset distribution)\n", + " \n", + " \n", + " Fatal liver failure in infancy\n", + " definition of HP:0006583 (Fatal liver failure in infancy)\n", + " \n", + " \n", + " #Fatal liver failure in infancy\n", + " definition of HP:0006583 (Fatal liver failure in infancy)\n", + " \n", + " \n", + " Insomnia\n", + " definition of HP:0100785 (Insomnia)\n", + " \n", + " \n", + " Persistent difficulty initiating or maintaining sleep.\n", + " definition of HP:0100785 (Insomnia)\n", + " \n", + " \n", + " #Difficulty staying or falling asleep\n", + " definition of HP:0100785 (Insomnia)\n", + " \n", + " \n", + " Optic atrophy from cranial nerve compression\n", + " definition of HP:0007958 (Optic atrophy from cranial nerve compression)\n", + " \n", + " \n", + " Chordoma\n", + " definition of HP:0010762 (Chordoma)\n", + " \n", + " \n", + " A chordoma is a tumor that arises from embryonic remnants of the notochord along the length of the neuraxis. Chordomas generally occur in the sacrum, intracranially at the clivus, or along the spinal axis.\n", + " definition of HP:0010762 (Chordoma)\n", + " \n", + " \n", + " Increased circulating lipoprotein lipase concentration\n", + " definition of HP:0033478 (Increased circulating lipoprotein lipase concentration)\n", + " \n", + " \n", + " Increased concentration of lipoprotein lipase in the blood circulation.\n", + " definition of HP:0033478 (Increased circulating lipoprotein lipase concentration)\n", + " \n", + " \n", + " #Elevated lipoprotein lipase level\n", + " definition of HP:0033478 (Increased circulating lipoprotein lipase concentration)\n", + " \n", + " \n", + " Triggered by sodium ingestion\n", + " definition of HP:0025224 (Triggered by sodium ingestion)\n", + " \n", + " \n", + " Applies to a sign or symptom that is provoked or brought about by eating or drinking sodium.\n", + " definition of HP:0025224 (Triggered by sodium ingestion)\n", + " \n", + " \n", + " #Sodium ingestion triggered symptoms #Sodium intake triggered attacks #Triggered by Na ingestion #Triggered by Na+ ingestion #Triggered by sodium intake\n", + " definition of HP:0025224 (Triggered by sodium ingestion)\n", + " \n", + " \n", + " Abnormal coronary artery origin\n", + " definition of HP:0011636 (Abnormal coronary artery origin)\n", + " \n", + " \n", + " Isolated abnormalities of the coronary artery origins. This may be in associated with other structural heart malformations but not the patterns of complex structural heart malformations which result in abnormal course of the coronary arteries.\n", + " definition of HP:0011636 (Abnormal coronary artery origin)\n", + " \n", + " \n", + " Pseudoepiphysis of the proximal phalanx of the hallux\n", + " definition of HP:0010134 (Pseudoepiphysis of the proximal phalanx of the hallux)\n", + " \n", + " \n", + " A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the big toe.\n", + " definition of HP:0010134 (Pseudoepiphysis of the proximal phalanx of the hallux)\n", + " \n", + " \n", + " Renal interstitial hemorrhage\n", + " definition of HP:0032617 (Renal interstitial hemorrhage)\n", + " \n", + " \n", + " A focal collection of 20 or more red blood cells within the interstitium, that is irregular in shape (i.e., collections do not conform to the shape of tubules or capillary networks), without surrounding endothelium or tubular epithelium, and is in an area of intact core.\n", + " definition of HP:0032617 (Renal interstitial hemorrhage)\n", + " \n", + " \n", + " #Renal interstitial haemorrhage\n", + " definition of HP:0032617 (Renal interstitial hemorrhage)\n", + " \n", + " \n", + " Talipes calcaneovalgus\n", + " definition of HP:0001884 (Talipes calcaneovalgus)\n", + " \n", + " \n", + " Talipes calcaneovalgus is a flexible foot deformity (as opposed to a rigid congenital vertical talus foot deformity) that can either present as a positional or structural foot deformity depending on severity and/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an \\"up and out\\" appearance, with the dorsal forefoot practically touching the anterior aspect of the ankle and lower leg.\n", + " definition of HP:0001884 (Talipes calcaneovalgus)\n", + " \n", + " \n", + " #Pes calcaneovarus\n", + " definition of HP:0001884 (Talipes calcaneovalgus)\n", + " \n", + " \n", + " Numerous nevi\n", + " definition of HP:0001054 (Numerous nevi)\n", + " \n", + " \n", + " #Multiple pigmented nevi #Numerous moles\n", + " definition of HP:0001054 (Numerous nevi)\n", + " \n", + " \n", + " Elevated circulating dihydrothymine concentration\n", + " definition of HP:0034594 (Elevated circulating dihydrothymine concentration)\n", + " \n", + " \n", + " An increased concentration of dihydrothymine in the blood circulation. Dihydrouracil is an intermediate in the catabolism of thymine.\n", + " definition of HP:0034594 (Elevated circulating dihydrothymine concentration)\n", + " \n", + " \n", + " #Dihydrothymine high in blood\n", + " definition of HP:0034594 (Elevated circulating dihydrothymine concentration)\n", + " \n", + " \n", + " Nodular regenerative hyperplasia of liver\n", + " definition of HP:0011954 (Nodular regenerative hyperplasia of liver)\n", + " \n", + " \n", + " Diffuse benign transformation of the hepatic parenchyma into small regenerative nodules with minimal or no fibrosis.\n", + " definition of HP:0011954 (Nodular regenerative hyperplasia of liver)\n", + " \n", + " \n", + " #Nodular transformation of liver #Noncirrhotic nodulation #Partial nodular transformation of liver\n", + " definition of HP:0011954 (Nodular regenerative hyperplasia of liver)\n", + " \n", + " \n", + " Split nail\n", + " definition of HP:0001809 (Split nail)\n", + " \n", + " \n", + " A nail plate that has a longitudinal separation and the two sections of the nail share the same lateral radius of curvature.\n", + " definition of HP:0001809 (Split nail)\n", + " \n", + " \n", + " #Longitudinal splitting of nail\n", + " definition of HP:0001809 (Split nail)\n", + " \n", + " \n", + " Increased total iron binding capacity\n", + " definition of HP:0025196 (Increased total iron binding capacity)\n", + " \n", + " \n", + " An elevation in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. A high TIBC corresponds to a high transferrin concentration. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity.\n", + " definition of HP:0025196 (Increased total iron binding capacity)\n", + " \n", + " \n", + " Osteolytic defects of the distal phalanx of the 3rd toe\n", + " definition of HP:0100458 (Osteolytic defects of the distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Osteolytic defects of the outermost bone of the 3rd toe\n", + " definition of HP:0100458 (Osteolytic defects of the distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Metopic synostosis\n", + " definition of HP:0011330 (Metopic synostosis)\n", + " \n", + " \n", + " Premature fusion of the metopic suture.\n", + " definition of HP:0011330 (Metopic synostosis)\n", + " \n", + " \n", + " #Metopic craniosynostosis #Metopic suture craniosynostosis\n", + " definition of HP:0011330 (Metopic synostosis)\n", + " \n", + " \n", + " Recurrent Klebsiella infections\n", + " definition of HP:0002742 (Recurrent Klebsiella infections)\n", + " \n", + " \n", + " Increased susceptibility to Klebsiella infections, as manifested by recurrent episodes of Klebsiella infection.\n", + " definition of HP:0002742 (Recurrent Klebsiella infections)\n", + " \n", + " \n", + " #Klebsiella infections, recurrent\n", + " definition of HP:0002742 (Recurrent Klebsiella infections)\n", + " \n", + " \n", + " Duplication of the proximal phalanx of the 3rd toe\n", + " definition of HP:0100404 (Duplication of the proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Partial or complete duplication of proximal phalanx of third toe.\n", + " definition of HP:0100404 (Duplication of the proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Duplication of the innermost 3rd toe bone #Duplication of the proximal phalanx of the third toe #Partial/complete duplication of the proximal phalanx of the 3rd toe\n", + " definition of HP:0100404 (Duplication of the proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Increased circulating renin concentration\n", + " definition of HP:0000848 (Increased circulating renin concentration)\n", + " \n", + " \n", + " An increased level of renin in the blood.\n", + " definition of HP:0000848 (Increased circulating renin concentration)\n", + " \n", + " \n", + " #Elevated blood renin level #Elevated plasma renin #Hyperreninemia #Increased circulating renin level #Increased plasma renin #Increased serum renin\n", + " definition of HP:0000848 (Increased circulating renin concentration)\n", + " \n", + " \n", + " Neck muscle hypertrophy\n", + " definition of HP:0012893 (Neck muscle hypertrophy)\n", + " \n", + " \n", + " Muscle hypertrophy affecting the muscles of the neck.\n", + " definition of HP:0012893 (Neck muscle hypertrophy)\n", + " \n", + " \n", + " #Hypertrophy of cervical muscles #Large neck muscles #Overgrowth of neck muscles\n", + " definition of HP:0012893 (Neck muscle hypertrophy)\n", + " \n", + " \n", + " Contracture of the metacarpophalangeal joint of the 4th finger\n", + " definition of HP:0009277 (Contracture of the metacarpophalangeal joint of the 4th finger)\n", + " \n", + " \n", + " Chronic loss of joint motion of the metacarpophalangeal joint of the 4th finger due to structural changes in non-bony tissue.\n", + " definition of HP:0009277 (Contracture of the metacarpophalangeal joint of the 4th finger)\n", + " \n", + " \n", + " Perihilar segmental glomerulosclerosis\n", + " definition of HP:0033496 (Perihilar segmental glomerulosclerosis)\n", + " \n", + " \n", + " Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration is present at the vascular pole, involving less than 50% of the tuft. It can be accompanied by other descriptors such as hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman's capsule.\n", + " definition of HP:0033496 (Perihilar segmental glomerulosclerosis)\n", + " \n", + " \n", + " #Segmental glomerulosclerosis, perihilar pattern\n", + " definition of HP:0033496 (Perihilar segmental glomerulosclerosis)\n", + " \n", + " \n", + " Focal aware motor seizure\n", + " definition of HP:0020217 (Focal aware motor seizure)\n", + " \n", + " \n", + " A type of focal motor seizure in which awareness is retained throughout the seizure.\n", + " definition of HP:0020217 (Focal aware motor seizure)\n", + " \n", + " \n", + " #Focal motor aware seizure\n", + " definition of HP:0020217 (Focal aware motor seizure)\n", + " \n", + " \n", + " Carotid artery occlusion\n", + " definition of HP:0012474 (Carotid artery occlusion)\n", + " \n", + " \n", + " Complete obstruction of a carotid artery.\n", + " definition of HP:0012474 (Carotid artery occlusion)\n", + " \n", + " \n", + " #Obstructed carotid artery\n", + " definition of HP:0012474 (Carotid artery occlusion)\n", + " \n", + " \n", + " Triggered by nickel\n", + " definition of HP:4000120 (Triggered by nickel)\n", + " \n", + " \n", + " #Contact with nickel\n", + " definition of HP:4000120 (Triggered by nickel)\n", + " \n", + " \n", + " Decreased CSF tetrahydrobiopterin level\n", + " definition of HP:6000764 (Decreased CSF tetrahydrobiopterin level)\n", + " \n", + " \n", + " Concentration of tetrahydrobiopterin in the cerebrospinal fluid (CSF) below the lower limit of normal.\n", + " definition of HP:6000764 (Decreased CSF tetrahydrobiopterin level)\n", + " \n", + " \n", + " Infection-related seizure\n", + " definition of HP:0032892 (Infection-related seizure)\n", + " \n", + " \n", + " Seizure associated with a presumed or proven infection (excluding infection of the central nervous system) or inflammatory state without an alternative precipitant such as metabolic derangement, and regardless of the presence or absence of a fever.\n", + " definition of HP:0032892 (Infection-related seizure)\n", + " \n", + " \n", + " Prominent antitragus\n", + " definition of HP:0008593 (Prominent antitragus)\n", + " \n", + " \n", + " Increased anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix.\n", + " definition of HP:0008593 (Prominent antitragus)\n", + " \n", + " \n", + " #Enlarged antitragus #Hyperplastic antitragus #Hypertrophic antitragus\n", + " definition of HP:0008593 (Prominent antitragus)\n", + " \n", + " \n", + " Anti-desmoplakin II antibody positivity\n", + " definition of HP:4000018 (Anti-desmoplakin II antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against desmoplakin-II.\n", + " definition of HP:4000018 (Anti-desmoplakin II antibody positivity)\n", + " \n", + " \n", + " Digital flexor tenosynovitis\n", + " definition of HP:0012276 (Digital flexor tenosynovitis)\n", + " \n", + " \n", + " Inflammation of the flexor digitorum tendon, often associated with the Kanavel signs: (i) finger held in slight flexion, (ii) fusiform swelling, (iii) tenderness along the flexor tendon sheath, and (iv) pain with passive extension of the digit.\n", + " definition of HP:0012276 (Digital flexor tenosynovitis)\n", + " \n", + " \n", + " #Trigger finger\n", + " definition of HP:0012276 (Digital flexor tenosynovitis)\n", + " \n", + " \n", + " Thoracoabdominal wall defect\n", + " definition of HP:0100656 (Thoracoabdominal wall defect)\n", + " \n", + " \n", + " Failure to close of the chest and abdominal wall likely caused by the failure of the ventral wall to close during week 4 of development.\n", + " definition of HP:0100656 (Thoracoabdominal wall defect)\n", + " \n", + " \n", + " #Thoracoabdominal schisis\n", + " definition of HP:0100656 (Thoracoabdominal wall defect)\n", + " \n", + " \n", + " Infection-associated lymphopenia\n", + " definition of HP:4000034 (Infection-associated lymphopenia)\n", + " \n", + " \n", + " Decreased lymphocyte count during infections.\n", + " definition of HP:4000034 (Infection-associated lymphopenia)\n", + " \n", + " \n", + " #Infection-associated lymphocytopenia\n", + " definition of HP:4000034 (Infection-associated lymphopenia)\n", + " \n", + " \n", + " Abnormal hepatic echogenicity\n", + " definition of HP:0031142 (Abnormal hepatic echogenicity)\n", + " \n", + " \n", + " Any deviation from the normal degree of echogenicity of the liver on sonography. Echogenicity refers to the ability of a tissue to reflect or transmit ultrasound waves in the context of surrounding tissues. Whenever there is an interface of structures with different echogenicities, a visible difference in contrast will be apparent on the screen. Based on echogenicity, a structure can be characterized as hyperechoic (white on the screen), hypoechoic (gray on the screen) and anechoic (black on the screen).\n", + " definition of HP:0031142 (Abnormal hepatic echogenicity)\n", + " \n", + " \n", + " Hyperextensible skin\n", + " definition of HP:0000974 (Hyperextensible skin)\n", + " \n", + " \n", + " A condition in which the skin can be stretched beyond normal, and then returns to its initial position.\n", + " definition of HP:0000974 (Hyperextensible skin)\n", + " \n", + " \n", + " #Hyperelastic skin #Skin hyperelasticity #Skin hyperextensibility #Stretchable skin\n", + " definition of HP:0000974 (Hyperextensible skin)\n", + " \n", + " \n", + " Internally nucleated skeletal muscle fibers\n", + " definition of HP:0031237 (Internally nucleated skeletal muscle fibers)\n", + " \n", + " \n", + " An abnormally increased proportion of nuclei of sarcomeres with an internal localization. Individual muscle fibers are syncytia, formed by embryonic fusion of many myoblasts or later, myosatellite cells. Each muscle fiber contains many nuclei, peripherally positioned immediately adjacent to the sarcolemmal membrane. In healthy muscle only 3-5% of fibers contain nuclei that are located internally, within the cell, but many disease processes lead to internal nuclei.\n", + " definition of HP:0031237 (Internally nucleated skeletal muscle fibers)\n", + " \n", + " \n", + " #Internally nucleated skeletal muscle fibres\n", + " definition of HP:0031237 (Internally nucleated skeletal muscle fibers)\n", + " \n", + " \n", + " Total absence von Willebrand factor multimers\n", + " definition of HP:0030134 (Total absence von Willebrand factor multimers)\n", + " \n", + " \n", + " Complete absence of all von Willebrand factor multimers.\n", + " definition of HP:0030134 (Total absence von Willebrand factor multimers)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the distal phalanx of the 2nd toe\n", + " definition of HP:0010413 (Aplasia/Hypoplasia of the distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Absent/small outermost 2nd toe bone #Absent/underdeveloped outermost 2nd toe bone\n", + " definition of HP:0010413 (Aplasia/Hypoplasia of the distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Decreased specific antibody response to polysaccharide vaccine\n", + " definition of HP:0410299 (Decreased specific antibody response to polysaccharide vaccine)\n", + " \n", + " \n", + " A reduced ability to synthesize postvaccination antibodies against polysaccharides in vaccines, as measured by antibody titer determination following vaccination.\n", + " definition of HP:0410299 (Decreased specific antibody response to polysaccharide vaccine)\n", + " \n", + " \n", + " Achilles tendon calcification\n", + " definition of HP:0025441 (Achilles tendon calcification)\n", + " \n", + " \n", + " Ectopic deposition of calcium salts in the Achilles tendon.\n", + " definition of HP:0025441 (Achilles tendon calcification)\n", + " \n", + " \n", + " #Calcification of the Achilles tendon\n", + " definition of HP:0025441 (Achilles tendon calcification)\n", + " \n", + " \n", + " Lateral spinal meningocele\n", + " definition of HP:0032478 (Lateral spinal meningocele)\n", + " \n", + " \n", + " Protrusion of the arachnoid and dura through spinal foramina.\n", + " definition of HP:0032478 (Lateral spinal meningocele)\n", + " \n", + " \n", + " Reduced muscle myoadenylate deaminase activity\n", + " definition of HP:0034529 (Reduced muscle myoadenylate deaminase activity)\n", + " \n", + " \n", + " Diminished activity of the enzyme myoadenylate deaminase. Myoadenylate deaminase is the muscle isoform of adenosine monophosphate (AMP) deaminase and catalyzes the deamination of AMP to inosine monophosphate and ammonia.\n", + " definition of HP:0034529 (Reduced muscle myoadenylate deaminase activity)\n", + " \n", + " \n", + " #Muscle biopsy: myoadenylate deaminase low\n", + " definition of HP:0034529 (Reduced muscle myoadenylate deaminase activity)\n", + " \n", + " \n", + " Substantia nigra hypointensity on susceptibility-weighted imaging\n", + " definition of HP:0033048 (Substantia nigra hypointensity on susceptibility-weighted imaging)\n", + " \n", + " \n", + " Hypointence (dark) appearance of the substantia nigra inmagnetic resonance imaging using susceptibility weighted imaging (SWI).\n", + " definition of HP:0033048 (Substantia nigra hypointensity on susceptibility-weighted imaging)\n", + " \n", + " \n", + " #Low signal intensity in the substantia nigra on susceptibility-weighted imaging (SWI)\n", + " definition of HP:0033048 (Substantia nigra hypointensity on susceptibility-weighted imaging)\n", + " \n", + " \n", + " Impaired two-point discrimination\n", + " definition of HP:0011810 (Impaired two-point discrimination)\n", + " \n", + " \n", + " A reduced ability to distinguish tactile sensations at points that are very close to one another. This can be tested by using special calipers whose points can be set from 2mm to several centimeters apart.\n", + " definition of HP:0011810 (Impaired two-point discrimination)\n", + " \n", + " \n", + " Mixed hearing impairment\n", + " definition of HP:0000410 (Mixed hearing impairment)\n", + " \n", + " \n", + " A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment.\n", + " definition of HP:0000410 (Mixed hearing impairment)\n", + " \n", + " \n", + " #Hearing loss, mixed #Mixed hearing impairment #Mixed hearing loss\n", + " definition of HP:0000410 (Mixed hearing impairment)\n", + " \n", + " \n", + " Patchy reduction of bone mineral density\n", + " definition of HP:0010657 (Patchy reduction of bone mineral density)\n", + " \n", + " \n", + " Patchy (irregular) reduction in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays.\n", + " definition of HP:0010657 (Patchy reduction of bone mineral density)\n", + " \n", + " \n", + " Mediastinal lymph node calcification\n", + " definition of HP:6001018 (Mediastinal lymph node calcification)\n", + " \n", + " \n", + " Abnormal deposition of calcium in mediastinal lymph nodes.\n", + " definition of HP:6001018 (Mediastinal lymph node calcification)\n", + " \n", + " \n", + " #Calcified mediastinal lymph nodes\n", + " definition of HP:6001018 (Mediastinal lymph node calcification)\n", + " \n", + " \n", + " Elevated urinary dihydrothymine level\n", + " definition of HP:6000119 (Elevated urinary dihydrothymine level)\n", + " \n", + " \n", + " The amount of dihydrothymine in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000119 (Elevated urinary dihydrothymine level)\n", + " \n", + " \n", + " #Dihydrothymine in urine high\n", + " definition of HP:6000119 (Elevated urinary dihydrothymine level)\n", + " \n", + " \n", + " Inferior rectus muscle weakness\n", + " definition of HP:0025601 (Inferior rectus muscle weakness)\n", + " \n", + " \n", + " Decreased strength of the inferior rectus muscle.\n", + " definition of HP:0025601 (Inferior rectus muscle weakness)\n", + " \n", + " \n", + " Generalized hypoplasia of dental enamel\n", + " definition of HP:0006282 (Generalized hypoplasia of dental enamel)\n", + " \n", + " \n", + " A generalized form of developmental hypoplasia of the dental enamel.\n", + " definition of HP:0006282 (Generalized hypoplasia of dental enamel)\n", + " \n", + " \n", + " #Generalised hypoplasia of dental enamel #Generalised hypoplasia of tooth enamel #Generalized hypoplasia of tooth enamel\n", + " definition of HP:0006282 (Generalized hypoplasia of dental enamel)\n", + " \n", + " \n", + " Broad uvula\n", + " definition of HP:0010809 (Broad uvula)\n", + " \n", + " \n", + " Increased width of the uvula (subjective finding).\n", + " definition of HP:0010809 (Broad uvula)\n", + " \n", + " \n", + " #Wide uvula\n", + " definition of HP:0010809 (Broad uvula)\n", + " \n", + " \n", + " Pulmonary mass\n", + " definition of HP:0033821 (Pulmonary mass)\n", + " \n", + " \n", + " A mass in the lung seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics).\n", + " definition of HP:0033821 (Pulmonary mass)\n", + " \n", + " \n", + " Anterior displacement of the papillary muscles\n", + " definition of HP:0025448 (Anterior displacement of the papillary muscles)\n", + " \n", + " \n", + " Abnormally anterior location of the papillary muscles of the left ventricle.\n", + " definition of HP:0025448 (Anterior displacement of the papillary muscles)\n", + " \n", + " \n", + " #Anteriorly displaced papillary muscles\n", + " definition of HP:0025448 (Anterior displacement of the papillary muscles)\n", + " \n", + " \n", + " Small epiphyses of the proximal phalanges of the hand\n", + " definition of HP:0010276 (Small epiphyses of the proximal phalanges of the hand)\n", + " \n", + " \n", + " #Small end part of the innermost hand bones\n", + " definition of HP:0010276 (Small epiphyses of the proximal phalanges of the hand)\n", + " \n", + " \n", + " Central retinal exudate\n", + " definition of HP:0007822 (Central retinal exudate)\n", + " \n", + " \n", + " Upper limb amyotrophy\n", + " definition of HP:0009129 (Upper limb amyotrophy)\n", + " \n", + " \n", + " Muscular atrophy involving the muscles of the upper limbs.\n", + " definition of HP:0009129 (Upper limb amyotrophy)\n", + " \n", + " \n", + " #Amyotrophy involving the upper limbs\n", + " definition of HP:0009129 (Upper limb amyotrophy)\n", + " \n", + " \n", + " Cardiac myxoma\n", + " definition of HP:0011672 (Cardiac myxoma)\n", + " \n", + " \n", + " A myxoma (tumor of primitive connective tissue) of the heart. Cardiac myxomas consist of stellate to plump, cytologically bland mesenchymal cells set in a myxoid stroma. Cardiac myxomas are of endocardial origin and general project from the endocardium into a cardiac chamber.\n", + " definition of HP:0011672 (Cardiac myxoma)\n", + " \n", + " \n", + " Reduced circulating 3-ketoacyl-CoA thiolase concentration\n", + " definition of HP:0034407 (Reduced circulating 3-ketoacyl-CoA thiolase concentration)\n", + " \n", + " \n", + " Decreased concentration of 3-ketoacyl-CoA thiolase in th blood circulation.\n", + " definition of HP:0034407 (Reduced circulating 3-ketoacyl-CoA thiolase concentration)\n", + " \n", + " \n", + " #3-ketoacyl-CoA thiolase (THIO) deficiency\n", + " definition of HP:0034407 (Reduced circulating 3-ketoacyl-CoA thiolase concentration)\n", + " \n", + " \n", + " Nitrituria\n", + " definition of HP:0031812 (Nitrituria)\n", + " \n", + " \n", + " Presence of nitrites in the urine.\n", + " definition of HP:0031812 (Nitrituria)\n", + " \n", + " \n", + " Anti-polio virus antibody positivity\n", + " definition of HP:6000346 (Anti-polio virus antibody positivity)\n", + " \n", + " \n", + " The presence of antibodies in the blood circulation that react against a component of poliovirus.\n", + " definition of HP:6000346 (Anti-polio virus antibody positivity)\n", + " \n", + " \n", + " Neurodevelopmental delay\n", + " definition of HP:0012758 (Neurodevelopmental delay)\n", + " \n", + " \n", + " Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems.\n", + " definition of HP:0012758 (Neurodevelopmental delay)\n", + " \n", + " \n", + " #NDD\n", + " definition of HP:0012758 (Neurodevelopmental delay)\n", + " \n", + " \n", + " Low hanging columella\n", + " definition of HP:0009765 (Low hanging columella)\n", + " \n", + " \n", + " Columella extending inferior to the level of the nasal base, when viewed from the side.\n", + " definition of HP:0009765 (Low hanging columella)\n", + " \n", + " \n", + " #Columella, low #Columella, low hanging #Extension of the columella below the ala nasi #Low-hanging columella\n", + " definition of HP:0009765 (Low hanging columella)\n", + " \n", + " \n", + " REM parasomnia\n", + " definition of HP:5200299 (REM parasomnia)\n", + " \n", + " \n", + " Parasomnia occurs during REM sleep.\n", + " definition of HP:5200299 (REM parasomnia)\n", + " \n", + " \n", + " #Disturbance in REM #Rapid eye movement parasomnia\n", + " definition of HP:5200299 (REM parasomnia)\n", + " \n", + " \n", + " Rickets\n", + " definition of HP:0002748 (Rickets)\n", + " \n", + " \n", + " Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets.\n", + " definition of HP:0002748 (Rickets)\n", + " \n", + " \n", + " #Weak and soft bones\n", + " definition of HP:0002748 (Rickets)\n", + " \n", + " \n", + " Isometric tremor\n", + " definition of HP:0030185 (Isometric tremor)\n", + " \n", + " \n", + " An isometric tremor occurs with muscle contraction against a rigid stationary object (e.g., when making a fist).\n", + " definition of HP:0030185 (Isometric tremor)\n", + " \n", + " \n", + " Abnormal circulating glucose-6-phosphate dehydrogenase concentration\n", + " definition of HP:0410176 (Abnormal circulating glucose-6-phosphate dehydrogenase concentration)\n", + " \n", + " \n", + " An anomaly in the level of glucose-6-phosphate dehydrogenase.\n", + " definition of HP:0410176 (Abnormal circulating glucose-6-phosphate dehydrogenase concentration)\n", + " \n", + " \n", + " #Abnormal G6PD level #Abnormal glucose-6-phosphate dehydrogenase level\n", + " definition of HP:0410176 (Abnormal circulating glucose-6-phosphate dehydrogenase concentration)\n", + " \n", + " \n", + " Retinal thinning\n", + " definition of HP:0030329 (Retinal thinning)\n", + " \n", + " \n", + " Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT).\n", + " definition of HP:0030329 (Retinal thinning)\n", + " \n", + " \n", + " #Retinal thinning\n", + " definition of HP:0030329 (Retinal thinning)\n", + " \n", + " \n", + " Adipose tissue loss\n", + " definition of HP:0008887 (Adipose tissue loss)\n", + " \n", + " \n", + " A loss of adipose tissue.\n", + " definition of HP:0008887 (Adipose tissue loss)\n", + " \n", + " \n", + " #Loss of fat tissue\n", + " definition of HP:0008887 (Adipose tissue loss)\n", + " \n", + " \n", + " Abnormal oligodendroglia morphology\n", + " definition of HP:0100706 (Abnormal oligodendroglia morphology)\n", + " \n", + " \n", + " One of the three types of glia cells that, with the nerve cells, compose the central nervous system and are characterized by sheetlike processes that wrap around individual axons to form the myelin sheath of nerve fibers.\n", + " definition of HP:0100706 (Abnormal oligodendroglia morphology)\n", + " \n", + " \n", + " #Abnormality of the oligodendroglia\n", + " definition of HP:0100706 (Abnormal oligodendroglia morphology)\n", + " \n", + " \n", + " Elongated temporal styloid process\n", + " definition of HP:6000044 (Elongated temporal styloid process)\n", + " \n", + " \n", + " The length of the temporal styloid process is above the upper limit of normal. The styloid process is a cylindrical, slender, needle-like projection of varying lengths averaging 2 to 3 cm. The styloid process projects from the inferior part of the petrous temporal bone and offers attachment to the stylohyoid ligament and the stylohyoid, stylopharyngeus, and styloglossus muscles.\n", + " definition of HP:6000044 (Elongated temporal styloid process)\n", + " \n", + " \n", + " #Temporal styloid process elongated\n", + " definition of HP:6000044 (Elongated temporal styloid process)\n", + " \n", + " \n", + " Prominent eyelashes\n", + " definition of HP:0011231 (Prominent eyelashes)\n", + " \n", + " \n", + " Eyelashes that draw the attention of the viewer due to increased density and/or length and/or curl without meeting the criteria of trichomegaly.\n", + " definition of HP:0011231 (Prominent eyelashes)\n", + " \n", + " \n", + " #Prominent eyelashes\n", + " definition of HP:0011231 (Prominent eyelashes)\n", + " \n", + " \n", + " Decreased response to growth hormone stimulation test\n", + " definition of HP:0000824 (Decreased response to growth hormone stimulation test)\n", + " \n", + " \n", + " Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests.\n", + " definition of HP:0000824 (Decreased response to growth hormone stimulation test)\n", + " \n", + " \n", + " Increased hepatic glycogen content\n", + " definition of HP:0006568 (Increased hepatic glycogen content)\n", + " \n", + " \n", + " An increase in the amount of glycogen stored in hepatocytes compared to normal.\n", + " definition of HP:0006568 (Increased hepatic glycogen content)\n", + " \n", + " \n", + " #Increased liver glycogen content\n", + " definition of HP:0006568 (Increased hepatic glycogen content)\n", + " \n", + " \n", + " Heart murmur\n", + " definition of HP:0030148 (Heart murmur)\n", + " \n", + " \n", + " An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart.\n", + " definition of HP:0030148 (Heart murmur)\n", + " \n", + " \n", + " #Cardiac murmur #Cardiac murmurs #Heart murmur #Heart murmurs\n", + " definition of HP:0030148 (Heart murmur)\n", + " \n", + " \n", + " Anti-parotid secretory protein antibody positivity\n", + " definition of HP:0034069 (Anti-parotid secretory protein antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against parotid secretory protein.\n", + " definition of HP:0034069 (Anti-parotid secretory protein antibody positivity)\n", + " \n", + " \n", + " #Anti-PSP antibody positivity\n", + " definition of HP:0034069 (Anti-parotid secretory protein antibody positivity)\n", + " \n", + " \n", + " Skin-picking\n", + " definition of HP:0012166 (Skin-picking)\n", + " \n", + " \n", + " Repetitive and compulsive picking of skin which results in tissue damage.\n", + " definition of HP:0012166 (Skin-picking)\n", + " \n", + " \n", + " #Compulsive skin picking #Dermatillomania\n", + " definition of HP:0012166 (Skin-picking)\n", + " \n", + " \n", + " Myofibromatosis\n", + " definition of HP:0020135 (Myofibromatosis)\n", + " \n", + " \n", + " A mesenchymal neoplasm characterized by solitary or multiple nodules involving the skin, striated muscles, bones and, sometimes, viscera. It usually appears as a subcutaneous nodule, but can also appear as an ulcer, pedunculated lesion, or similar to a hemangioma. Histology shows well-circumscribed tapered cell lobes, resembling smooth muscle cells. At its center, perivascular round cells (hemangiopericitoides) are usually observed, giving a biphasic appearance.\n", + " definition of HP:0020135 (Myofibromatosis)\n", + " \n", + " \n", + " Acetabular erosions\n", + " definition of HP:0033640 (Acetabular erosions)\n", + " \n", + " \n", + " Erosion (loss of substance) of the acetabular subchondral cortical bone. The acetabulum is the concave surface that meets with the head of the femur, forming the hip joint.\n", + " definition of HP:0033640 (Acetabular erosions)\n", + " \n", + " \n", + " Aplasia involving forearm bones\n", + " definition of HP:0009822 (Aplasia involving forearm bones)\n", + " \n", + " \n", + " #Absent forearm bones\n", + " definition of HP:0009822 (Aplasia involving forearm bones)\n", + " \n", + " \n", + " Congenital hypoplastic anemia\n", + " definition of HP:0004810 (Congenital hypoplastic anemia)\n", + " \n", + " \n", + " A type of hypoplastic anemia with congenital onset.\n", + " definition of HP:0004810 (Congenital hypoplastic anemia)\n", + " \n", + " \n", + " #Congenital dyserythropoietic anaemia #Congenital dyserythropoietic anemia #Congenital hypoplastic anaemia\n", + " definition of HP:0004810 (Congenital hypoplastic anemia)\n", + " \n", + " \n", + " Focal subretinal deposits\n", + " definition of HP:0031529 (Focal subretinal deposits)\n", + " \n", + " \n", + " Deposits accumulating between the outer retina and the retinal pigment epithelium and that have a focal distribution.\n", + " definition of HP:0031529 (Focal subretinal deposits)\n", + " \n", + " \n", + " Renal medullary interstitial inflammation\n", + " definition of HP:0032947 (Renal medullary interstitial inflammation)\n", + " \n", + " \n", + " Histopathological findings of inflammation of the interstitium of the renal medulla, composed of lymphocytes, monocytes, plasma cells.\n", + " definition of HP:0032947 (Renal medullary interstitial inflammation)\n", + " \n", + " \n", + " Poorly ossified cervical vertebrae\n", + " definition of HP:0008477 (Poorly ossified cervical vertebrae)\n", + " \n", + " \n", + " Decreased ossification of the cervical vertebral bodies, i.e., of the Cervical vertebrae set.\n", + " definition of HP:0008477 (Poorly ossified cervical vertebrae)\n", + " \n", + " \n", + " Airway hyperresponsiveness\n", + " definition of HP:0032933 (Airway hyperresponsiveness)\n", + " \n", + " \n", + " An increased sensitivity of the airways to an inhaled constrictor agonist, a steeper slope of the dose-response curve, and a greater maximal response to the agonist.\n", + " definition of HP:0032933 (Airway hyperresponsiveness)\n", + " \n", + " \n", + " Ivory epiphysis of the proximal phalanx of the 5th toe\n", + " definition of HP:0100230 (Ivory epiphysis of the proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " #Increased bone density of end part of the innermost bone of the little toe #Increased bone density of end part of the innermost bone of the pinkie toe #Increased bone density of end part of the innermost bone of the pinky toe\n", + " definition of HP:0100230 (Ivory epiphysis of the proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " Absent peripheral lymph nodes in presence of infection\n", + " definition of HP:0033581 (Absent peripheral lymph nodes in presence of infection)\n", + " \n", + " \n", + " The absence of any palpable lymph nodes in the presence of symptoms suggesting infection in that drainage area should raise suspicion for immunodeficiency diseases.\n", + " definition of HP:0033581 (Absent peripheral lymph nodes in presence of infection)\n", + " \n", + " \n", + " Tetraparesis\n", + " definition of HP:0002273 (Tetraparesis)\n", + " \n", + " \n", + " Weakness of all four limbs.\n", + " definition of HP:0002273 (Tetraparesis)\n", + " \n", + " \n", + " #Quadriparesis\n", + " definition of HP:0002273 (Tetraparesis)\n", + " \n", + " \n", + " Non-infectious meningitis\n", + " definition of HP:0033430 (Non-infectious meningitis)\n", + " \n", + " \n", + " Inflammation of the layers of tissue that cover the brain and spinal cord (meninges) and of the fluid-filled space between the meninges (subarachnoid space) when it is caused by disorders that are not infections or by drugs or vaccines.\n", + " definition of HP:0033430 (Non-infectious meningitis)\n", + " \n", + " \n", + " #Aseptic meningitis\n", + " definition of HP:0033430 (Non-infectious meningitis)\n", + " \n", + " \n", + " Congenital abnormal hair pattern\n", + " definition of HP:0011361 (Congenital abnormal hair pattern)\n", + " \n", + " \n", + " A congenital abnormality of the distribution of hair growth.\n", + " definition of HP:0011361 (Congenital abnormal hair pattern)\n", + " \n", + " \n", + " #Abnormal hair pattern since birth\n", + " definition of HP:0011361 (Congenital abnormal hair pattern)\n", + " \n", + " \n", + " Polycoria\n", + " definition of HP:0011500 (Polycoria)\n", + " \n", + " \n", + " Multiple pupils.\n", + " definition of HP:0011500 (Polycoria)\n", + " \n", + " \n", + " #Multiple pupils\n", + " definition of HP:0011500 (Polycoria)\n", + " \n", + " \n", + " Increased urinary 3-methylhistidine\n", + " definition of HP:0410317 (Increased urinary 3-methylhistidine)\n", + " \n", + " \n", + " Increased concentration of 3-methylhistidine in the urine.\n", + " definition of HP:0410317 (Increased urinary 3-methylhistidine)\n", + " \n", + " \n", + " #3-Methylhistidinuria\n", + " definition of HP:0410317 (Increased urinary 3-methylhistidine)\n", + " \n", + " \n", + " Increased circulating pancreatic triacylglycerol lipase level\n", + " definition of HP:0032932 (Increased circulating pancreatic triacylglycerol lipase level)\n", + " \n", + " \n", + " An increased level of triacylglycerol lipase in the blood circulation (can be measured in serum or plasma).\n", + " definition of HP:0032932 (Increased circulating pancreatic triacylglycerol lipase level)\n", + " \n", + " \n", + " #Elevated circulating pancreatic triacylglycerol lipase activity\n", + " definition of HP:0032932 (Increased circulating pancreatic triacylglycerol lipase level)\n", + " \n", + " \n", + " Double inlet to single ventricle of indeterminate morphology\n", + " definition of HP:0011557 (Double inlet to single ventricle of indeterminate morphology)\n", + " \n", + " \n", + " The condition in which both atria are joined to a single ventricle each by its own atrioventricular valve. The morphology of this ventricle does not allow one to determine if it corresponds to the left or right ventricle.\n", + " definition of HP:0011557 (Double inlet to single ventricle of indeterminate morphology)\n", + " \n", + " \n", + " History of recent central venous catheter\n", + " definition of HP:6000168 (History of recent central venous catheter)\n", + " \n", + " \n", + " A past medical history of a recent central venous catheter (CVC). A CVC is an indwelling device inserted into a large, central vein (most commonly the internal jugular, subclavian, or femoral) and advanced until the terminal lumen resides within the inferior vena cava, superior vena cava, or right atrium. CVCs can be a necessary producre for critically ill patients with indications such as total parenteral nutrition administration, dialysis, plasmapheresis, medication administration, and hemodynamic monitoring, and to facilitate further complex interventions such as transvenous pacemaker placement. Complications include arrhythmia, central vein stenosis, and sepsis.\n", + " definition of HP:6000168 (History of recent central venous catheter)\n", + " \n", + " \n", + " Wide hamate bone\n", + " definition of HP:0004261 (Wide hamate bone)\n", + " \n", + " \n", + " #Broad hamate bone #Wide unciform bone\n", + " definition of HP:0004261 (Wide hamate bone)\n", + " \n", + " \n", + " Irregular ossification at anterior rib ends\n", + " definition of HP:0006598 (Irregular ossification at anterior rib ends)\n", + " \n", + " \n", + " Incomplete cleft hard palate\n", + " definition of HP:5201004 (Incomplete cleft hard palate)\n", + " \n", + " \n", + " Cleft hard palate in which the cleft does not go through the entire length of the hard palate, ie. the cleft does not go from the incisor foramen to the anterior border of the soft palate.\n", + " definition of HP:5201004 (Incomplete cleft hard palate)\n", + " \n", + " \n", + " Pontine ischemic lacunes\n", + " definition of HP:0032570 (Pontine ischemic lacunes)\n", + " \n", + " \n", + " Lacunes are infarcts less than 15 mm in diameter in the cortical white matter or in the corona radiata, internal capsule, centrum semiovale, thalamus, basal ganglia, or pons.\n", + " definition of HP:0032570 (Pontine ischemic lacunes)\n", + " \n", + " \n", + " #Pontine ischaemic lacunes\n", + " definition of HP:0032570 (Pontine ischemic lacunes)\n", + " \n", + " \n", + " Hyperglycorrhachia\n", + " definition of HP:0031885 (Hyperglycorrhachia)\n", + " \n", + " \n", + " Abnormally high glucose concentration in the cerebrospinal fluid.\n", + " definition of HP:0031885 (Hyperglycorrhachia)\n", + " \n", + " \n", + " #Increased CSF glucose\n", + " definition of HP:0031885 (Hyperglycorrhachia)\n", + " \n", + " \n", + " Pelvic girdle muscle weakness\n", + " definition of HP:0003749 (Pelvic girdle muscle weakness)\n", + " \n", + " \n", + " Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis.\n", + " definition of HP:0003749 (Pelvic girdle muscle weakness)\n", + " \n", + " \n", + " #Hip girdle muscle weakness #Hip girdle weakness #Hip-girdle muscle weakness #Pelvic girdle weakness\n", + " definition of HP:0003749 (Pelvic girdle muscle weakness)\n", + " \n", + " \n", + " Fractured middle phalanx of manual digit 2\n", + " definition of HP:0041182 (Fractured middle phalanx of manual digit 2)\n", + " \n", + " \n", + " A partial or complete breakage of the middle phalanx of manual digit 2.\n", + " definition of HP:0041182 (Fractured middle phalanx of manual digit 2)\n", + " \n", + " \n", + " #bone middle phalanx of manual digit 2\n", + " definition of HP:0041182 (Fractured middle phalanx of manual digit 2)\n", + " \n", + " \n", + " Fragmentation of the epiphysis of the distal phalanx of the thumb\n", + " definition of HP:0009679 (Fragmentation of the epiphysis of the distal phalanx of the thumb)\n", + " \n", + " \n", + " Epiphysis of the distal phalanx of the thumb having multiple bony fragments.\n", + " definition of HP:0009679 (Fragmentation of the epiphysis of the distal phalanx of the thumb)\n", + " \n", + " \n", + " #Fragmentation of end part thumb outermost long bone\n", + " definition of HP:0009679 (Fragmentation of the epiphysis of the distal phalanx of the thumb)\n", + " \n", + " \n", + " Angulated antihelix\n", + " definition of HP:0011236 (Angulated antihelix)\n", + " \n", + " \n", + " Antihelical ridge that forms an acute angle between the antitragus and its bifurcation (stem) instead of a gently curving arc.\n", + " definition of HP:0011236 (Angulated antihelix)\n", + " \n", + " \n", + " Radiolucent\n", + " definition of HP:0025789 (Radiolucent)\n", + " \n", + " \n", + " Applies to a lesion that allows x-rays to penetrate through them and expose the receptor (radiolucency). Soft tissues appear black or dark on the processed radiograph and are called radiolucent.\n", + " definition of HP:0025789 (Radiolucent)\n", + " \n", + " \n", + " #Radiolucent appearance #Radiolucent character\n", + " definition of HP:0025789 (Radiolucent)\n", + " \n", + " \n", + " Fallopian tube torsion\n", + " definition of HP:0012884 (Fallopian tube torsion)\n", + " \n", + " \n", + " A twisting of the Fallopian tube. Sudden onset with sharp, colicky pelvic pain associated with nausea, vomiting, bowel, and bladder symptoms is the usual presentation.\n", + " definition of HP:0012884 (Fallopian tube torsion)\n", + " \n", + " \n", + " #Twisted fallopian tube\n", + " definition of HP:0012884 (Fallopian tube torsion)\n", + " \n", + " \n", + " Facial shape deformation\n", + " definition of HP:0011334 (Facial shape deformation)\n", + " \n", + " \n", + " #Facial shape compression #Facial shape deformation\n", + " definition of HP:0011334 (Facial shape deformation)\n", + " \n", + " \n", + " Self-biting\n", + " definition of HP:0012169 (Self-biting)\n", + " \n", + " \n", + " Habitual biting of one's own body.\n", + " definition of HP:0012169 (Self-biting)\n", + " \n", + " \n", + " Abnormal metabolic brain imaging by MRS\n", + " definition of HP:0012705 (Abnormal metabolic brain imaging by MRS)\n", + " \n", + " \n", + " An anomaly of metabolism in the brain identified by magnetic resonance spectroscopy (MRS).\n", + " definition of HP:0012705 (Abnormal metabolic brain imaging by MRS)\n", + " \n", + " \n", + " Recurrent fractures\n", + " definition of HP:0002757 (Recurrent fractures)\n", + " \n", + " \n", + " The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).\n", + " definition of HP:0002757 (Recurrent fractures)\n", + " \n", + " \n", + " #Frequent fractures #Increased fracture rate #Increased fractures #Multiple fractures #Multiple spontaneous fractures #Recurrent fractures #Varying degree of multiple fractures\n", + " definition of HP:0002757 (Recurrent fractures)\n", + " \n", + " \n", + " Hypoplasia of fetal nasal bone\n", + " definition of HP:0011430 (Hypoplasia of fetal nasal bone)\n", + " \n", + " \n", + " On prenatal ultrasound, the nasal bone is a thin echogenic line within the bridge of the fetal nose. The fetus is imaged facing the transducer with the fetal face strictly in the midline. The angle of insonation is 90 degrees, with the longitudinal axis of the nasal bone as the reference line. Calibres are placed at each end of the nasal bone. Absence of the nasal bone or measurements below 2.5th percentile are considered significant (PMID:16100637).\n", + " definition of HP:0011430 (Hypoplasia of fetal nasal bone)\n", + " \n", + " \n", + " #Hypoplasia of foetal nasal bone #Underdeveloped fetal nose bone #Underdeveloped foetal nose bone\n", + " definition of HP:0011430 (Hypoplasia of fetal nasal bone)\n", + " \n", + " \n", + " Renal pelvic carcinoma\n", + " definition of HP:0006762 (Renal pelvic carcinoma)\n", + " \n", + " \n", + " The presence of a carcinoma in the renal pelvis.\n", + " definition of HP:0006762 (Renal pelvic carcinoma)\n", + " \n", + " \n", + " Storage in hepatocytes\n", + " definition of HP:0031137 (Storage in hepatocytes)\n", + " \n", + " \n", + " Hepatocytes (liver parenchymal cells) exhibit a bloated appearance because of expansion of the cytoplasm by accumulated material.\n", + " definition of HP:0031137 (Storage in hepatocytes)\n", + " \n", + " \n", + " Abnormal cervical curvature\n", + " definition of HP:0005905 (Abnormal cervical curvature)\n", + " \n", + " \n", + " The presence of an abnormal curvature of the cervical vertebral column.\n", + " definition of HP:0005905 (Abnormal cervical curvature)\n", + " \n", + " \n", + " #Abnormal neck curve\n", + " definition of HP:0005905 (Abnormal cervical curvature)\n", + " \n", + " \n", + " Medially deviated second toe\n", + " definition of HP:0008096 (Medially deviated second toe)\n", + " \n", + " \n", + " Medial deviation of the second toe.\n", + " definition of HP:0008096 (Medially deviated second toe)\n", + " \n", + " \n", + " EBV encephalitis\n", + " definition of HP:0033509 (EBV encephalitis)\n", + " \n", + " \n", + " Inflammation of the brain related to infection by Epstein-Barr virus.\n", + " definition of HP:0033509 (EBV encephalitis)\n", + " \n", + " \n", + " #Epstein-Barr virus encephalitis\n", + " definition of HP:0033509 (EBV encephalitis)\n", + " \n", + " \n", + " Reduced erythrocyte 2,3-diphosphoglycerate concentration\n", + " definition of HP:0030271 (Reduced erythrocyte 2,3-diphosphoglycerate concentration)\n", + " \n", + " \n", + " This term refers to an inappropriate low 2,3-DPG concentration in erythrocytes. 2,3-diphosphoglycerate (2,3-DPG) controls the movement of oxygen from red blood cells to tissues. Anemia is usually accompanied by an increased level of 2,3-DPG in order to promote tissue oxygenation.\n", + " definition of HP:0030271 (Reduced erythrocyte 2,3-diphosphoglycerate concentration)\n", + " \n", + " \n", + " Recurrent systemic pyogenic infections\n", + " definition of HP:0005429 (Recurrent systemic pyogenic infections)\n", + " \n", + " \n", + " Increased susceptibility to systemic pyogenic infections, as manifested by recurrent episodes of systemic pyogenic infections.\n", + " definition of HP:0005429 (Recurrent systemic pyogenic infections)\n", + " \n", + " \n", + " Pneumobilia\n", + " definition of HP:6000454 (Pneumobilia)\n", + " \n", + " \n", + " Accumulation of gas in the biliary tree.\n", + " definition of HP:6000454 (Pneumobilia)\n", + " \n", + " \n", + " #Aerobilia #Air in the biliary system\n", + " definition of HP:6000454 (Pneumobilia)\n", + " \n", + " \n", + " Posterior atrophy of corpus callosum\n", + " definition of HP:0034007 (Posterior atrophy of corpus callosum)\n", + " \n", + " \n", + " The presence of atrophy (wasting) of the posterior portion of the corpus callosum.\n", + " definition of HP:0034007 (Posterior atrophy of corpus callosum)\n", + " \n", + " \n", + " Anterior chamber red blood cells\n", + " definition of HP:0031702 (Anterior chamber red blood cells)\n", + " \n", + " \n", + " The presence of erythrocyte in the aqueous humor of the anterior chamber of the eye.\n", + " definition of HP:0031702 (Anterior chamber red blood cells)\n", + " \n", + " \n", + " #Anterior chamber RBCs\n", + " definition of HP:0031702 (Anterior chamber red blood cells)\n", + " \n", + " \n", + " Abnormal glucose-6-phosphate dehydrogenase level in tissue\n", + " definition of HP:0410185 (Abnormal glucose-6-phosphate dehydrogenase level in tissue)\n", + " \n", + " \n", + " An anomaly in the level of glucose-6-phosphate dehydrogenase in tissue.\n", + " definition of HP:0410185 (Abnormal glucose-6-phosphate dehydrogenase level in tissue)\n", + " \n", + " \n", + " #Abnormal G6PD level in tissue\n", + " definition of HP:0410185 (Abnormal glucose-6-phosphate dehydrogenase level in tissue)\n", + " \n", + " \n", + " Periportal fibrosis\n", + " definition of HP:0001405 (Periportal fibrosis)\n", + " \n", + " \n", + " The presence of fibrosis affecting the interlobular stroma of liver.\n", + " definition of HP:0001405 (Periportal fibrosis)\n", + " \n", + " \n", + " Abnormal substantia nigra morphology\n", + " definition of HP:0045007 (Abnormal substantia nigra morphology)\n", + " \n", + " \n", + " A structural anomaly of the substantia nigra, which is a midbrain dopaminergic nucleus which has a critical role in modulating motor movement and reward functions as part of the basal ganglia circuitry.\n", + " definition of HP:0045007 (Abnormal substantia nigra morphology)\n", + " \n", + " \n", + " #Abnormality of the substantia nigra\n", + " definition of HP:0045007 (Abnormal substantia nigra morphology)\n", + " \n", + " \n", + " Paralytic ectropion\n", + " definition of HP:0500069 (Paralytic ectropion)\n", + " \n", + " \n", + " A type of ectropion associated with orbicularis muscle weakness caused by cranial nerve VII palsy.\n", + " definition of HP:0500069 (Paralytic ectropion)\n", + " \n", + " \n", + " Focal-onset seizure\n", + " definition of HP:0007359 (Focal-onset seizure)\n", + " \n", + " \n", + " A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures.\n", + " definition of HP:0007359 (Focal-onset seizure)\n", + " \n", + " \n", + " #Focal onset seizure #Focal seizure #Focal seizures #Focal-onset seizures #Partial seizure #Partial seizures #Seizure affecting one half of brain\n", + " definition of HP:0007359 (Focal-onset seizure)\n", + " \n", + " \n", + " Fused lips\n", + " definition of HP:0100788 (Fused lips)\n", + " \n", + " \n", + " Lack of separation of the upper and lower lips.\n", + " definition of HP:0100788 (Fused lips)\n", + " \n", + " \n", + " #Adhesion of upper and lower lips #Fused lips #Fusion of upper and lower lips\n", + " definition of HP:0100788 (Fused lips)\n", + " \n", + " \n", + " Anti-P/Q-type VGCC antibody positivity\n", + " definition of HP:5000027 (Anti-P/Q-type VGCC antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against P/Q-type voltage-gated calcium channels (VGCCs).\n", + " definition of HP:5000027 (Anti-P/Q-type VGCC antibody positivity)\n", + " \n", + " \n", + " #Anti-P/Q-type voltage-gated calcium-channel antibody\n", + " definition of HP:5000027 (Anti-P/Q-type VGCC antibody positivity)\n", + " \n", + " \n", + " Anti-H3 antibody positivity\n", + " definition of HP:0033574 (Anti-H3 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies in the blood circulation that react against histone H3.\n", + " definition of HP:0033574 (Anti-H3 antibody positivity)\n", + " \n", + " \n", + " Proximal symphalangism of hands\n", + " definition of HP:0006152 (Proximal symphalangism of hands)\n", + " \n", + " \n", + " The term proximal symphalangism refers to a bony fusion of the middle and proximal phalanges of the digits of the hand, in other words the proximal interphalangeal joint (PIJ) is missing which can be seen either on x-rays or as an absence of the proximal interphalangeal finger creases.\n", + " definition of HP:0006152 (Proximal symphalangism of hands)\n", + " \n", + " \n", + " #Fused innermost hinge joints #Proximal interphalangeal joint synostoses\n", + " definition of HP:0006152 (Proximal symphalangism of hands)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the triceps\n", + " definition of HP:0009784 (Aplasia/Hypoplasia of the triceps)\n", + " \n", + " \n", + " Absence or underdevelopment of the triceps muscle.\n", + " definition of HP:0009784 (Aplasia/Hypoplasia of the triceps)\n", + " \n", + " \n", + " #Absent/small triceps #Absent/underdeveloped triceps\n", + " definition of HP:0009784 (Aplasia/Hypoplasia of the triceps)\n", + " \n", + " \n", + " Microphallus\n", + " definition of HP:0030260 (Microphallus)\n", + " \n", + " \n", + " Length of penis more than 2 SD below the mean for age accompanied by hypospadias.\n", + " definition of HP:0030260 (Microphallus)\n", + " \n", + " \n", + " Eczematoid dermatitis\n", + " definition of HP:0000964 (Eczematoid dermatitis)\n", + " \n", + " \n", + " Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces.\n", + " definition of HP:0000964 (Eczematoid dermatitis)\n", + " \n", + " \n", + " #Eczema\n", + " definition of HP:0000964 (Eczematoid dermatitis)\n", + " \n", + " \n", + " Abnormal chondrocyte morphology\n", + " definition of HP:0032929 (Abnormal chondrocyte morphology)\n", + " \n", + " \n", + " Any abnormal structure of a chondrocyte, which is a polymorphic cell that forms cartilage.\n", + " definition of HP:0032929 (Abnormal chondrocyte morphology)\n", + " \n", + " \n", + " Subcutaneous spheroids\n", + " definition of HP:0025014 (Subcutaneous spheroids)\n", + " \n", + " \n", + " Small, hard cyst-like nodules, freely moveable in the subcutis over the bony prominences of the legs and arms, which have an outer calcified layer with a translucent core on x-ray.\n", + " definition of HP:0025014 (Subcutaneous spheroids)\n", + " \n", + " \n", + " Erythematous plaque\n", + " definition of HP:0025474 (Erythematous plaque)\n", + " \n", + " \n", + " A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation.\n", + " definition of HP:0025474 (Erythematous plaque)\n", + " \n", + " \n", + " Hypothalamic atrophy\n", + " definition of HP:0025058 (Hypothalamic atrophy)\n", + " \n", + " \n", + " Partial or complete wasting (loss) of hypothalamus tissue that was once present.\n", + " definition of HP:0025058 (Hypothalamic atrophy)\n", + " \n", + " \n", + " #Atrophy of the hypothalamus\n", + " definition of HP:0025058 (Hypothalamic atrophy)\n", + " \n", + " \n", + " Urethrovaginal fistula\n", + " definition of HP:0008716 (Urethrovaginal fistula)\n", + " \n", + " \n", + " The presence of a fistula between the vagina and the urethra.\n", + " definition of HP:0008716 (Urethrovaginal fistula)\n", + " \n", + " \n", + " #Urethrovaginal fistulae\n", + " definition of HP:0008716 (Urethrovaginal fistula)\n", + " \n", + " \n", + " Postauricular pit\n", + " definition of HP:0004464 (Postauricular pit)\n", + " \n", + " \n", + " Benign congenital lesion of the postauricular soft tissue consisting of a blind-ending narrow tube or pit.\n", + " definition of HP:0004464 (Postauricular pit)\n", + " \n", + " \n", + " #Pit behind the ear #Postauricular earpits #Postauricular fistula #Posterior auricular pit #Posterior auricular sinus\n", + " definition of HP:0004464 (Postauricular pit)\n", + " \n", + " \n", + " Abnormal glycosylation\n", + " definition of HP:0012345 (Abnormal glycosylation)\n", + " \n", + " \n", + " An anomaly of a glycosylation process, i.e., a process involved in the covalent attachment of a glycosyl residue to a substrate molecule.\n", + " definition of HP:0012345 (Abnormal glycosylation)\n", + " \n", + " \n", + " Toe hyperphalangy\n", + " definition of HP:6000868 (Toe hyperphalangy)\n", + " \n", + " \n", + " Hyperphalangy is a digit morphology in which increased numbers of phalanges are arranged linearly within a toe. That is, there is an accessory phalanx that is arranged linearly with the other phalanges.\n", + " definition of HP:6000868 (Toe hyperphalangy)\n", + " \n", + " \n", + " 5-minute APGAR score of 1\n", + " definition of HP:0030921 (5-minute APGAR score of 1)\n", + " \n", + " \n", + " Abnormality of the musculature of the upper limbs\n", + " definition of HP:0001446 (Abnormality of the musculature of the upper limbs)\n", + " \n", + " \n", + " #Abnormal upper limb muscles\n", + " definition of HP:0001446 (Abnormality of the musculature of the upper limbs)\n", + " \n", + " \n", + " Cholecyst-enteric fistula\n", + " definition of HP:6001043 (Cholecyst-enteric fistula)\n", + " \n", + " \n", + " Fistula between the gallbladder and the intestine.\n", + " definition of HP:6001043 (Cholecyst-enteric fistula)\n", + " \n", + " \n", + " Sclerosis of distal toe phalanx\n", + " definition of HP:0100948 (Sclerosis of distal toe phalanx)\n", + " \n", + " \n", + " An elevation in bone density in one or more distal phalanges of the toes. Sclerosis is normally detected on a radiograph as an area of increased opacity.\n", + " definition of HP:0100948 (Sclerosis of distal toe phalanx)\n", + " \n", + " \n", + " #Increased bone density in the outermost bone of the toes #Sclerosis of the distal phalanges of the toes\n", + " definition of HP:0100948 (Sclerosis of distal toe phalanx)\n", + " \n", + " \n", + " Ameliorated by lumbar puncture\n", + " definition of HP:0034459 (Ameliorated by lumbar puncture)\n", + " \n", + " \n", + " Applies to a sign or symptom that is improved or made more bearable by lumbar puncture.\n", + " definition of HP:0034459 (Ameliorated by lumbar puncture)\n", + " \n", + " \n", + " #Lumbar puncture relieves symptoms\n", + " definition of HP:0034459 (Ameliorated by lumbar puncture)\n", + " \n", + " \n", + " Abnormality of external carotid artery\n", + " definition of HP:3000041 (Abnormality of external carotid artery)\n", + " \n", + " \n", + " An abnormality of an external carotid artery.\n", + " definition of HP:3000041 (Abnormality of external carotid artery)\n", + " \n", + " \n", + " Hypercapnia in cord blood\n", + " definition of HP:0410214 (Hypercapnia in cord blood)\n", + " \n", + " \n", + " Abnormally elevated blood carbon dioxide (CO2) level in the cord blood.\n", + " definition of HP:0410214 (Hypercapnia in cord blood)\n", + " \n", + " \n", + " #High cord blood carbon dioxide level\n", + " definition of HP:0410214 (Hypercapnia in cord blood)\n", + " \n", + " \n", + " Elevated circulating pyridinoline concentration\n", + " definition of HP:0033387 (Elevated circulating pyridinoline concentration)\n", + " \n", + " \n", + " An increased concentration of hydroxylysyl-pyridinoline (pyridinoline) in the blood circulation.\n", + " definition of HP:0033387 (Elevated circulating pyridinoline concentration)\n", + " \n", + " \n", + " Positive bloodstream rapid plasma reagin test\n", + " definition of HP:6000797 (Positive bloodstream rapid plasma reagin test)\n", + " \n", + " \n", + " Positive result of the the rapid plasma reagin test (RPR test. This is a rapid diagnostic test that looks for non-specific antibodies in the blood of the patient that may indicate an infection by syphilis or related non-venereal treponematoses.\n", + " definition of HP:6000797 (Positive bloodstream rapid plasma reagin test)\n", + " \n", + " \n", + " Abnormal intraocular pressure\n", + " definition of HP:0012632 (Abnormal intraocular pressure)\n", + " \n", + " \n", + " An anomaly in the amount of force per unit area exerted by the intraocular fluid within the eye.\n", + " definition of HP:0012632 (Abnormal intraocular pressure)\n", + " \n", + " \n", + " #Abnormal eye pressure #Abnormal intraocular pressure\n", + " definition of HP:0012632 (Abnormal intraocular pressure)\n", + " \n", + " \n", + " Choroidal nevus\n", + " definition of HP:0025314 (Choroidal nevus)\n", + " \n", + " \n", + " A benign, flat or slightly elevated melanocytic lesions of the posterior uveawith clearly defined margins. Choroidal nevi tend they remain stable in size, and to display features such as overlying drusen as well as retinal pigment epithelial atrophy, hyperplasia or fibrous metaplasia.\n", + " definition of HP:0025314 (Choroidal nevus)\n", + " \n", + " \n", + " Curved distal phalanx of the 4th finger\n", + " definition of HP:0009286 (Curved distal phalanx of the 4th finger)\n", + " \n", + " \n", + " Curved appearance of the distal phalanx of the 4th (ring) finger.\n", + " definition of HP:0009286 (Curved distal phalanx of the 4th finger)\n", + " \n", + " \n", + " #Curved outermost ring finger bone\n", + " definition of HP:0009286 (Curved distal phalanx of the 4th finger)\n", + " \n", + " \n", + " Anti-Francisella tularensis antibody positivity\n", + " definition of HP:6000740 (Anti-Francisella tularensis antibody positivity)\n", + " \n", + " \n", + " The presence of antibodies in the blood circulation that react against a component of Francisella tularensis.\n", + " definition of HP:6000740 (Anti-Francisella tularensis antibody positivity)\n", + " \n", + " \n", + " Multiple lentigines\n", + " definition of HP:0001003 (Multiple lentigines)\n", + " \n", + " \n", + " Presence of an unusually high number of lentigines (singular: lentigo), which are flat, tan to brown oval spots.\n", + " definition of HP:0001003 (Multiple lentigines)\n", + " \n", + " \n", + " Mesangial Immune complex deposition\n", + " definition of HP:0033295 (Mesangial Immune complex deposition)\n", + " \n", + " \n", + " Extracellular meangial accumulation of finely granular material corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry; most typically electron-dense although this may decrease with resorption of the deposit.\n", + " definition of HP:0033295 (Mesangial Immune complex deposition)\n", + " \n", + " \n", + " Broad middle phalanx of the 2nd toe\n", + " definition of HP:0010405 (Broad middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Broad middle bone of 2nd toe\n", + " definition of HP:0010405 (Broad middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " Absent epiphysis of the proximal phalanx of the 5th finger\n", + " definition of HP:0009160 (Absent epiphysis of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " Absence of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger.\n", + " definition of HP:0009160 (Absent epiphysis of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " #Absent end part of the innermost bone of little finger #Absent end part of the innermost bone of pinkie finger #Absent end part of the innermost bone of pinky finger\n", + " definition of HP:0009160 (Absent epiphysis of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " Localized periodontitis\n", + " definition of HP:0011059 (Localized periodontitis)\n", + " \n", + " \n", + " A localized form of periodontitis.\n", + " definition of HP:0011059 (Localized periodontitis)\n", + " \n", + " \n", + " #Localised periodontal disease #Localised periodontitis #Localized periodontal disease\n", + " definition of HP:0011059 (Localized periodontitis)\n", + " \n", + " \n", + " Corticotropin-releasing hormone deficient adrenal insufficiency\n", + " definition of HP:0011737 (Corticotropin-releasing hormone deficient adrenal insufficiency)\n", + " \n", + " \n", + " Adrenal insufficiency secondary to a defect in corticotropin-releasing hormone production.\n", + " definition of HP:0011737 (Corticotropin-releasing hormone deficient adrenal insufficiency)\n", + " \n", + " \n", + " #CRH deficient adrenal insufficiency #Tertiary adrenal insufficiency\n", + " definition of HP:0011737 (Corticotropin-releasing hormone deficient adrenal insufficiency)\n", + " \n", + " \n", + " Amyelia\n", + " definition of HP:0100566 (Amyelia)\n", + " \n", + " \n", + " Congenital absence of the spinal cord.\n", + " definition of HP:0100566 (Amyelia)\n", + " \n", + " \n", + " #Absent spinal cord\n", + " definition of HP:0100566 (Amyelia)\n", + " \n", + " \n", + " Intellectual disability, profound\n", + " definition of HP:0002187 (Intellectual disability, profound)\n", + " \n", + " \n", + " Profound mental retardation is defined as an intelligence quotient (IQ) below 20.\n", + " definition of HP:0002187 (Intellectual disability, profound)\n", + " \n", + " \n", + " #IQ less than 20 #Mental retardation, profound #Profound mental retardation\n", + " definition of HP:0002187 (Intellectual disability, profound)\n", + " \n", + " \n", + " Internal anal sphincter achalasia\n", + " definition of HP:6000018 (Internal anal sphincter achalasia)\n", + " \n", + " \n", + " A disorder of the internal anal sphincter (IAS) in which the IAS fails to relax that manifests clinically as intractable constipation.\n", + " definition of HP:6000018 (Internal anal sphincter achalasia)\n", + " \n", + " \n", + " #Anal achalasia\n", + " definition of HP:6000018 (Internal anal sphincter achalasia)\n", + " \n", + " \n", + " Mandibular aplasia\n", + " definition of HP:0009939 (Mandibular aplasia)\n", + " \n", + " \n", + " Absence of the mandible.\n", + " definition of HP:0009939 (Mandibular aplasia)\n", + " \n", + " \n", + " #Absence of lower jaw #Absence of lower jaw bone #Absence of mandible #Absent mandible #Agenesis of the mandible #Aplasia of the lower jaw bone #Failure of development of lower jaw #Failure of development of mandible #Missing lower jaw\n", + " definition of HP:0009939 (Mandibular aplasia)\n", + " \n", + " \n", + " Photosensitive myoclonic seizure\n", + " definition of HP:0001327 (Photosensitive myoclonic seizure)\n", + " \n", + " \n", + " Generalised myoclonic seizure provoked by flashing or flickering light.\n", + " definition of HP:0001327 (Photosensitive myoclonic seizure)\n", + " \n", + " \n", + " #Photically induced myoclonic seizure #Photomyoclonic seizure #Photomyoclonic seizures\n", + " definition of HP:0001327 (Photosensitive myoclonic seizure)\n", + " \n", + " \n", + " Abnormality of the humerus\n", + " definition of HP:0003063 (Abnormality of the humerus)\n", + " \n", + " \n", + " An abnormality of the humerus (i.e., upper arm bone).\n", + " definition of HP:0003063 (Abnormality of the humerus)\n", + " \n", + " \n", + " #Abnormality of the humeri\n", + " definition of HP:0003063 (Abnormality of the humerus)\n", + " \n", + " \n", + " Duplication of phalanx of 4th finger\n", + " definition of HP:0009972 (Duplication of phalanx of 4th finger)\n", + " \n", + " \n", + " This term applies if one or more of the phalanges of the 4th finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.\n", + " definition of HP:0009972 (Duplication of phalanx of 4th finger)\n", + " \n", + " \n", + " #Duplication of bones of the ring finger #Partial/complete duplication of phalanges of the 4th finger\n", + " definition of HP:0009972 (Duplication of phalanx of 4th finger)\n", + " \n", + " \n", + " Impaired ability to organize\n", + " definition of HP:0033056 (Impaired ability to organize)\n", + " \n", + " \n", + " Impaired ability to bring order to information, actions, or materials to achieve a goal or to follow an established organized routine.\n", + " definition of HP:0033056 (Impaired ability to organize)\n", + " \n", + " \n", + " #Impaired ability to organise\n", + " definition of HP:0033056 (Impaired ability to organize)\n", + " \n", + " \n", + " Best corrected visual acuity 0.1 LogMAR\n", + " definition of HP:0030554 (Best corrected visual acuity 0.1 LogMAR)\n", + " \n", + " \n", + " Abnormal morphology of the vestibule of the inner ear\n", + " definition of HP:0011376 (Abnormal morphology of the vestibule of the inner ear)\n", + " \n", + " \n", + " A morphological abnormality of the vestibule, the central part of the osseous labyrinth that is situated medial to the tympanic cavity, behind the cochlea, and in front of the semicircular canals.\n", + " definition of HP:0011376 (Abnormal morphology of the vestibule of the inner ear)\n", + " \n", + " \n", + " #Morphological abnormality of the vestibule of the inner ear #Vestibular abnormality\n", + " definition of HP:0011376 (Abnormal morphology of the vestibule of the inner ear)\n", + " \n", + " \n", + " Pili torti\n", + " definition of HP:0003777 (Pili torti)\n", + " \n", + " \n", + " Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope.\n", + " definition of HP:0003777 (Pili torti)\n", + " \n", + " \n", + " #Flattened and twisted hair\n", + " definition of HP:0003777 (Pili torti)\n", + " \n", + " \n", + " Bilambdoid synostosis\n", + " definition of HP:0011319 (Bilambdoid synostosis)\n", + " \n", + " \n", + " Premature synostosis of both lambdoid sutures.\n", + " definition of HP:0011319 (Bilambdoid synostosis)\n", + " \n", + " \n", + " #Bilateral lambdoid craniosynostosis #Bilateral lambdoid suture synostosis\n", + " definition of HP:0011319 (Bilambdoid synostosis)\n", + " \n", + " \n", + " Pseudoepiphysis of the middle phalanx of the 5th finger\n", + " definition of HP:0009210 (Pseudoepiphysis of the middle phalanx of the 5th finger)\n", + " \n", + " \n", + " A secondary ossification center in the middle phalanx of the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.\n", + " definition of HP:0009210 (Pseudoepiphysis of the middle phalanx of the 5th finger)\n", + " \n", + " \n", + " Supraglottic hemangioma\n", + " definition of HP:0410265 (Supraglottic hemangioma)\n", + " \n", + " \n", + " A hemangioma, a benign tumor of the vascular endothelial cells, located in the upper part of the larynx (voice box) including the epiglottis; the area above the vocal cords.\n", + " definition of HP:0410265 (Supraglottic hemangioma)\n", + " \n", + " \n", + " Biphenotypic acute leukemia\n", + " definition of HP:0005531 (Biphenotypic acute leukemia)\n", + " \n", + " \n", + " A type of actue leukemia with features characteristic of both the myeloid and lymphoid lineages. These leukemias are for this reason are designated mixed-lineage, hybrid or biphenotypic acute leukemias.\n", + " definition of HP:0005531 (Biphenotypic acute leukemia)\n", + " \n", + " \n", + " #Acute biphenotypic leukaemia #Biphenotypic acute leukaemia #Myeloid/lymphoid leukaemia #Myeloid/lymphoid leukemia\n", + " definition of HP:0005531 (Biphenotypic acute leukemia)\n", + " \n", + " \n", + " Porphyrinuria\n", + " definition of HP:0010473 (Porphyrinuria)\n", + " \n", + " \n", + " Abnormally increased excretion of porphyrins in the urine.\n", + " definition of HP:0010473 (Porphyrinuria)\n", + " \n", + " \n", + " Streaky metaphyseal sclerosis\n", + " definition of HP:0005092 (Streaky metaphyseal sclerosis)\n", + " \n", + " \n", + " The presence of streaks (bands) of abnormally increased density of metaphyseal bone.\n", + " definition of HP:0005092 (Streaky metaphyseal sclerosis)\n", + " \n", + " \n", + " #Streak increase in bone density in wide portion of wide bone\n", + " definition of HP:0005092 (Streaky metaphyseal sclerosis)\n", + " \n", + " \n", + " Abnormal morphology of the radius\n", + " definition of HP:0002818 (Abnormal morphology of the radius)\n", + " \n", + " \n", + " An abnormality of the radius.\n", + " definition of HP:0002818 (Abnormal morphology of the radius)\n", + " \n", + " \n", + " #Abnormality of the radius\n", + " definition of HP:0002818 (Abnormal morphology of the radius)\n", + " \n", + " \n", + " Cleft at the superior portion of the pinna\n", + " definition of HP:0008537 (Cleft at the superior portion of the pinna)\n", + " \n", + " \n", + " #Cleft at the superior portion of the ear\n", + " definition of HP:0008537 (Cleft at the superior portion of the pinna)\n", + " \n", + " \n", + " Abnormal retinal morphology on macular OCT\n", + " definition of HP:0030612 (Abnormal retinal morphology on macular OCT)\n", + " \n", + " \n", + " Hyperlipidemia\n", + " definition of HP:0003077 (Hyperlipidemia)\n", + " \n", + " \n", + " An elevated lipid concentration in the blood.\n", + " definition of HP:0003077 (Hyperlipidemia)\n", + " \n", + " \n", + " #Elevated lipids in blood\n", + " definition of HP:0003077 (Hyperlipidemia)\n", + " \n", + " \n", + " Deep anterior chamber\n", + " definition of HP:0007765 (Deep anterior chamber)\n", + " \n", + " \n", + " Increased depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is increased.\n", + " definition of HP:0007765 (Deep anterior chamber)\n", + " \n", + " \n", + " Infra-aortic superior vena cava\n", + " definition of HP:0011685 (Infra-aortic superior vena cava)\n", + " \n", + " \n", + " The superior vena cava passes below the aortic arch.\n", + " definition of HP:0011685 (Infra-aortic superior vena cava)\n", + " \n", + " \n", + " Elevated circulating thiosulfate concentration\n", + " definition of HP:6000757 (Elevated circulating thiosulfate concentration)\n", + " \n", + " \n", + " The concentration of thiosulfate in the blood circulation is above the upper limit of normal.\n", + " definition of HP:6000757 (Elevated circulating thiosulfate concentration)\n", + " \n", + " \n", + " Anodontia\n", + " definition of HP:0000674 (Anodontia)\n", + " \n", + " \n", + " The absence of all teeth from the normal series by a failure to develop.\n", + " definition of HP:0000674 (Anodontia)\n", + " \n", + " \n", + " #Anodontia vera #Complete agenesis of all teeth #Complete dental agenesis #Failure of development of all teeth\n", + " definition of HP:0000674 (Anodontia)\n", + " \n", + " \n", + " Abnormality of somatosensory evoked potentials\n", + " definition of HP:0007377 (Abnormality of somatosensory evoked potentials)\n", + " \n", + " \n", + " An abnormality of somatosensory evoked potentials (SSEP), i.e., of the electrical signals of sensation going from the body to the brain in response to a defined stimulus. Recording electrodes are placed over the scalp, spine, and peripheral nerves proximal to the stimulation site. Clinical studies generally use electrical stimulation of peripheral nerves to elicit potentials. SSEP testing determines whether peripheral sensory nerves are able to transmit sensory information like pain, temperature, and touch to the brain. Abnormal SSEPs can result from dysfunction at the level of the peripheral nerve, plexus, spinal root, spinal cord, brain stem, thalamocortical projections, or primary somatosensory cortex.\n", + " definition of HP:0007377 (Abnormality of somatosensory evoked potentials)\n", + " \n", + " \n", + " #Abnormality of SSEPs\n", + " definition of HP:0007377 (Abnormality of somatosensory evoked potentials)\n", + " \n", + " \n", + " Wide-cupped costochondral junctions\n", + " definition of HP:0000910 (Wide-cupped costochondral junctions)\n", + " \n", + " \n", + " Feather allergy\n", + " definition of HP:0410326 (Feather allergy)\n", + " \n", + " \n", + " Hypersensitivity in form of an adverse immune reaction against feathers.\n", + " definition of HP:0410326 (Feather allergy)\n", + " \n", + " \n", + " #Allergy to feathers #Feather allergy #IgE-mediated feather allergy #Immunoglobulin E-mediated feather allergy\n", + " definition of HP:0410326 (Feather allergy)\n", + " \n", + " \n", + " Abnormal lung morphology\n", + " definition of HP:0002088 (Abnormal lung morphology)\n", + " \n", + " \n", + " Any structural anomaly of the lung.\n", + " definition of HP:0002088 (Abnormal lung morphology)\n", + " \n", + " \n", + " #Abnormality of lung structure #Abnormality of the lungs #Abnormally shaped lung #Unusual lung shape\n", + " definition of HP:0002088 (Abnormal lung morphology)\n", + " \n", + " \n", + " Uhl's anomaly\n", + " definition of HP:0011724 (Uhl's anomaly)\n", + " \n", + " \n", + " Uhl anomaly of the right ventricle refers to the almost complete absence of right ventricular myocardium, normal tricuspid valve, and preserved septal and left ventricular myocardium.\n", + " definition of HP:0011724 (Uhl's anomaly)\n", + " \n", + " \n", + " Neuronal/glioneuronal neoplasm of the central nervous system\n", + " definition of HP:0025170 (Neuronal/glioneuronal neoplasm of the central nervous system)\n", + " \n", + " \n", + " A central nervous system neoplasm with neuronal and, less consistently, glial differentiation.\n", + " definition of HP:0025170 (Neuronal/glioneuronal neoplasm of the central nervous system)\n", + " \n", + " \n", + " #Glioneuronal tumor #Glioneuronal tumour #Neuronal and mixed neuronal-glial tumor #Neuronal and mixed neuronal-glial tumour #Neuronal/glioneuronal neoplasm of the CNS\n", + " definition of HP:0025170 (Neuronal/glioneuronal neoplasm of the central nervous system)\n", + " \n", + " \n", + " Facial cyanosis\n", + " definition of HP:0034031 (Facial cyanosis)\n", + " \n", + " \n", + " Bluish discoloration of one or more regions of the face.\n", + " definition of HP:0034031 (Facial cyanosis)\n", + " \n", + " \n", + " #Bluish face #Cyanotic face\n", + " definition of HP:0034031 (Facial cyanosis)\n", + " \n", + " \n", + " Focal vocal automatism seizure\n", + " definition of HP:0032903 (Focal vocal automatism seizure)\n", + " \n", + " \n", + " A type of focal automatism seizure characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset.\n", + " definition of HP:0032903 (Focal vocal automatism seizure)\n", + " \n", + " \n", + " Elevated circulating apolipoprotein B concentration\n", + " definition of HP:0031798 (Elevated circulating apolipoprotein B concentration)\n", + " \n", + " \n", + " Increased circulating level of apolipoprotein B, which is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100.\n", + " definition of HP:0031798 (Elevated circulating apolipoprotein B concentration)\n", + " \n", + " \n", + " #Elevated ApoB level #Elevated apolipoprotein B level\n", + " definition of HP:0031798 (Elevated circulating apolipoprotein B concentration)\n", + " \n", + " \n", + " Metacarpal diaphyseal endosteal sclerosis\n", + " definition of HP:0006174 (Metacarpal diaphyseal endosteal sclerosis)\n", + " \n", + " \n", + " Increase in bone density in the diaphyseal (shaft) region of a metacarpal bone.\n", + " definition of HP:0006174 (Metacarpal diaphyseal endosteal sclerosis)\n", + " \n", + " \n", + " Reduced circulating prekallikrein concentration\n", + " definition of HP:0034371 (Reduced circulating prekallikrein concentration)\n", + " \n", + " \n", + " Reduced concentration of prekallikrein (PK; also known as Fletcher factor) in the blood circulation. PK is the precursor of plasma kallikrein, a serine protease that activates kinins. PK is cleaved to produce kallikrein by activated Factor XII.\n", + " definition of HP:0034371 (Reduced circulating prekallikrein concentration)\n", + " \n", + " \n", + " Pneumothorax\n", + " definition of HP:0002107 (Pneumothorax)\n", + " \n", + " \n", + " Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung.\n", + " definition of HP:0002107 (Pneumothorax)\n", + " \n", + " \n", + " #Collapsed lung\n", + " definition of HP:0002107 (Pneumothorax)\n", + " \n", + " \n", + " Abnormality of pattern reversal visual evoked potentials\n", + " definition of HP:0100289 (Abnormality of pattern reversal visual evoked potentials)\n", + " \n", + " \n", + " #Abnormality of pattern reversal VEP\n", + " definition of HP:0100289 (Abnormality of pattern reversal visual evoked potentials)\n", + " \n", + " \n", + " Hemiplegia/hemiparesis\n", + " definition of HP:0004374 (Hemiplegia/hemiparesis)\n", + " \n", + " \n", + " Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength.\n", + " definition of HP:0004374 (Hemiplegia/hemiparesis)\n", + " \n", + " \n", + " #Paralysis or weakness of one side of body\n", + " definition of HP:0004374 (Hemiplegia/hemiparesis)\n", + " \n", + " \n", + " Infantile constant esotropia\n", + " definition of HP:0031761 (Infantile constant esotropia)\n", + " \n", + " \n", + " Constant esotropia occurring before 6 months of age. It is typically associated with a large angle of deviation, alternating fixation (therefore low risk of amblyopia) and poor potential for binocular single vision. Other features that might be present in individuals with infantile (constant) esotropia include latent nystagmus or manifest latent nystagmus, dissociated vertical divergence, cyclotropia, abnormal head posture, limited abduction.\n", + " definition of HP:0031761 (Infantile constant esotropia)\n", + " \n", + " \n", + " #Infantile (constant) esotropia\n", + " definition of HP:0031761 (Infantile constant esotropia)\n", + " \n", + " \n", + " Affected\n", + " definition of HP:0032320 (Affected)\n", + " \n", + " \n", + " This term applies to a family member who is diagnosed with the same condition as the individual who is the primary focus of investigation (the proband).\n", + " definition of HP:0032320 (Affected)\n", + " \n", + " \n", + " Polycythemia\n", + " definition of HP:0001901 (Polycythemia)\n", + " \n", + " \n", + " Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal.\n", + " definition of HP:0001901 (Polycythemia)\n", + " \n", + " \n", + " #Abnormally shaped erythrocytes #Erythrocytosis #Increased red blood cells #Polyglobulia\n", + " definition of HP:0001901 (Polycythemia)\n", + " \n", + " \n", + " Inguinal lymphadenopathy\n", + " definition of HP:0034751 (Inguinal lymphadenopathy)\n", + " \n", + " \n", + " Enlarged lymph node located in the inguinal region (groin).\n", + " definition of HP:0034751 (Inguinal lymphadenopathy)\n", + " \n", + " \n", + " Temporal hypotrichosis\n", + " definition of HP:0004524 (Temporal hypotrichosis)\n", + " \n", + " \n", + " Reduced or lacking hair growth in the temporal region (i.e., around the temples on the side of the skull).\n", + " definition of HP:0004524 (Temporal hypotrichosis)\n", + " \n", + " \n", + " #Reduced hair growth in temporal region\n", + " definition of HP:0004524 (Temporal hypotrichosis)\n", + " \n", + " \n", + " Decreased circulating 7-dehydrocholesterol concentration\n", + " definition of HP:0034935 (Decreased circulating 7-dehydrocholesterol concentration)\n", + " \n", + " \n", + " Concentration of 7-dehydrocholesterol in the blood circulation below the lower limit of normal.\n", + " definition of HP:0034935 (Decreased circulating 7-dehydrocholesterol concentration)\n", + " \n", + " \n", + " Vestibular hyporeflexia\n", + " definition of HP:0001756 (Vestibular hyporeflexia)\n", + " \n", + " \n", + " A general descriptive term that describes impaired functioning of the vestibular apparatus that leads to manifestations such as dizziness or postural imbalance\n", + " definition of HP:0001756 (Vestibular hyporeflexia)\n", + " \n", + " \n", + " #Vestibular deficiency #Vestibular dysfunction #Vestibular failure #Vestibular hypofunction #Vestibular hyporeflexia #Vestibular loss #Vestibulopathy\n", + " definition of HP:0001756 (Vestibular hyporeflexia)\n", + " \n", + " \n", + " Glomerular fibronectin deposits\n", + " definition of HP:6000428 (Glomerular fibronectin deposits)\n", + " \n", + " \n", + " Accumulation of fibronectin in the glomerulus.\n", + " definition of HP:6000428 (Glomerular fibronectin deposits)\n", + " \n", + " \n", + " Anti-LABD97 antibody positivity\n", + " definition of HP:4000028 (Anti-LABD97 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against LABD97, which is structurally identical to a portion of the extracellular domain of BPAg2. BPAg2, a 180 kDa bullous pemphigoid antigen, is a transmembrane protein important for basement membrane cohesion.\n", + " definition of HP:4000028 (Anti-LABD97 antibody positivity)\n", + " \n", + " \n", + " Beaded vitreous appearance\n", + " definition of HP:0031154 (Beaded vitreous appearance)\n", + " \n", + " \n", + " Vitreous humor of the eye displaying beaded bundles of irregular diameters.\n", + " definition of HP:0031154 (Beaded vitreous appearance)\n", + " \n", + " \n", + " Necrotizing ileitis\n", + " definition of HP:4000012 (Necrotizing ileitis)\n", + " \n", + " \n", + " Pareidolia\n", + " definition of HP:5200209 (Pareidolia)\n", + " \n", + " \n", + " Apophenia is a psychological phenomenon in which individuals perceive familiar patterns or meaningful images in random or ambiguous stimuli, such as clouds, shadows, or inanimate objects.\n", + " definition of HP:5200209 (Pareidolia)\n", + " \n", + " \n", + " Lytic defects of carpal bones\n", + " definition of HP:0004238 (Lytic defects of carpal bones)\n", + " \n", + " \n", + " Symphalangism of middle phalanx of 4th finger\n", + " definition of HP:0009308 (Symphalangism of middle phalanx of 4th finger)\n", + " \n", + " \n", + " Fusion of the middle phalanx of the 4th finger with another bone.\n", + " definition of HP:0009308 (Symphalangism of middle phalanx of 4th finger)\n", + " \n", + " \n", + " #Fused middle bone of ring finger\n", + " definition of HP:0009308 (Symphalangism of middle phalanx of 4th finger)\n", + " \n", + " \n", + " Self-neglect\n", + " definition of HP:0025479 (Self-neglect)\n", + " \n", + " \n", + " A pathological neglect of personal needs and well-being that includes attending to self-grooming, personal care and the attention to cleanliness of personal space.\n", + " definition of HP:0025479 (Self-neglect)\n", + " \n", + " \n", + " Redundant skin\n", + " definition of HP:0001582 (Redundant skin)\n", + " \n", + " \n", + " Loose and sagging skin often associated with loss of skin elasticity.\n", + " definition of HP:0001582 (Redundant skin)\n", + " \n", + " \n", + " #Loose redundant skin #Redundant skin folds #Sagging, redundant skin\n", + " definition of HP:0001582 (Redundant skin)\n", + " \n", + " \n", + " Triangular shaped distal phalanx of the 3rd finger\n", + " definition of HP:0009427 (Triangular shaped distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Triangular shaped distal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.\n", + " definition of HP:0009427 (Triangular shaped distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Triangular shaped outermost bone of the middle finger\n", + " definition of HP:0009427 (Triangular shaped distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Abnormal cell proliferation\n", + " definition of HP:0031377 (Abnormal cell proliferation)\n", + " \n", + " \n", + " Any abnormality in the multiplication or reproduction of cells, which may result in the expansion of a cell population.\n", + " definition of HP:0031377 (Abnormal cell proliferation)\n", + " \n", + " \n", + " Abnormal ventricular septum morphology\n", + " definition of HP:0010438 (Abnormal ventricular septum morphology)\n", + " \n", + " \n", + " A structural abnormality of the interventricular septum.\n", + " definition of HP:0010438 (Abnormal ventricular septum morphology)\n", + " \n", + " \n", + " #Abnormal interventricular septum morphology #Abnormality of the ventricular septum #Ventricular septum abnormality\n", + " definition of HP:0010438 (Abnormal ventricular septum morphology)\n", + " \n", + " \n", + " Bifid epiglottis\n", + " definition of HP:0010564 (Bifid epiglottis)\n", + " \n", + " \n", + " A midline anterior-posterior cleft of the epiglottis that involves at least two-thirds of the epiglottic leaf. It is a useful feature for clinical diagnosis because it appears to be very rare in syndromes other than Pallister-Hall-Syndrome and is also rare as an isolated malformation.\n", + " definition of HP:0010564 (Bifid epiglottis)\n", + " \n", + " \n", + " Superior pectus carinatum\n", + " definition of HP:0000917 (Superior pectus carinatum)\n", + " \n", + " \n", + " Pectus carinatum affecting primarily the superior part of the sternum.\n", + " definition of HP:0000917 (Superior pectus carinatum)\n", + " \n", + " \n", + " #Pectus carinatum superiorly\n", + " definition of HP:0000917 (Superior pectus carinatum)\n", + " \n", + " \n", + " Distance exotropia\n", + " definition of HP:0031714 (Distance exotropia)\n", + " \n", + " \n", + " A type of divergent strabismus (exotropia) in which an eye tends to turn outwards (i.e., the eye squints) mainly when looking at distant objects. The eyes tend to remain straight when they look at near objects. Distance exotropia may be constant or intermittent.\n", + " definition of HP:0031714 (Distance exotropia)\n", + " \n", + " \n", + " Orchitis\n", + " definition of HP:0100796 (Orchitis)\n", + " \n", + " \n", + " Testicular inflammation.\n", + " definition of HP:0100796 (Orchitis)\n", + " \n", + " \n", + " #Inflammation of testicles\n", + " definition of HP:0100796 (Orchitis)\n", + " \n", + " \n", + " Increased urinary taurine\n", + " definition of HP:0003166 (Increased urinary taurine)\n", + " \n", + " \n", + " Increased concentration of taurine in the urine.\n", + " definition of HP:0003166 (Increased urinary taurine)\n", + " \n", + " \n", + " #Increased urinary taurine\n", + " definition of HP:0003166 (Increased urinary taurine)\n", + " \n", + " \n", + " Fragmentation of the epiphysis of the 1st metacarpal\n", + " definition of HP:0010019 (Fragmentation of the epiphysis of the 1st metacarpal)\n", + " \n", + " \n", + " Epiphysis of the 1st metacarpal having multiple bony fragments.\n", + " definition of HP:0010019 (Fragmentation of the epiphysis of the 1st metacarpal)\n", + " \n", + " \n", + " #Fragmentation of the end part of the 1st long bone of hand\n", + " definition of HP:0010019 (Fragmentation of the epiphysis of the 1st metacarpal)\n", + " \n", + " \n", + " Fragmentation of the epiphysis of the middle phalanx of the 3rd finger\n", + " definition of HP:0009325 (Fragmentation of the epiphysis of the middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " Fragmented appearance of the epiphysis of the middle phalanx of the 3rd finger.\n", + " definition of HP:0009325 (Fragmentation of the epiphysis of the middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Fragmentation of end part of the middle bone of the middle finger\n", + " definition of HP:0009325 (Fragmentation of the epiphysis of the middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " Juvenile aseptic necrosis\n", + " definition of HP:0100323 (Juvenile aseptic necrosis)\n", + " \n", + " \n", + " Juvenile aseptic necrosis comprises a group of orthopedic diseases characterized by interruption of the blood supply of a bone, followed by localized bony necrosis most often of the epiphyses of bones of children or teenagers.\n", + " definition of HP:0100323 (Juvenile aseptic necrosis)\n", + " \n", + " \n", + " Positive lactose hydrogen breath test\n", + " definition of HP:4000100 (Positive lactose hydrogen breath test)\n", + " \n", + " \n", + " Elevated hydrogen gas level in exhaled breath following oral administration of lactose. In individuals with lactose intolerance, undigested lactose in the colon will be metabolized by colonic bacteria, releasing hydrogen gas.\n", + " definition of HP:4000100 (Positive lactose hydrogen breath test)\n", + " \n", + " \n", + " Increased circulating lactate concentration\n", + " definition of HP:0002151 (Increased circulating lactate concentration)\n", + " \n", + " \n", + " Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).\n", + " definition of HP:0002151 (Increased circulating lactate concentration)\n", + " \n", + " \n", + " #Increased blood lactate #Increased serum lactate\n", + " definition of HP:0002151 (Increased circulating lactate concentration)\n", + " \n", + " \n", + " Abnormal leukocyte count\n", + " definition of HP:0011893 (Abnormal leukocyte count)\n", + " \n", + " \n", + " Number of leukocytes per volume of blood beyond normal limits.\n", + " definition of HP:0011893 (Abnormal leukocyte count)\n", + " \n", + " \n", + " #Abnormal white blood cell count\n", + " definition of HP:0011893 (Abnormal leukocyte count)\n", + " \n", + " \n", + " Segmental spinal muscular atrophy\n", + " definition of HP:0009037 (Segmental spinal muscular atrophy)\n", + " \n", + " \n", + " Hepatolithiasis\n", + " definition of HP:6000063 (Hepatolithiasis)\n", + " \n", + " \n", + " The presence of gallstones within the intrahepatic bile ducts proximal to the right and left hepatic ducts.\n", + " definition of HP:6000063 (Hepatolithiasis)\n", + " \n", + " \n", + " Inappropriate behavior\n", + " definition of HP:0000719 (Inappropriate behavior)\n", + " \n", + " \n", + " An explicit or perceived action, demonstration, conduct, or language (verbal and written) that is contrary to generally accepted norms, rules, procedures, or unacceptable within the context in which it is carried out. Inappropriate behaviors could take place in a sexual or social context and could be aggressive, violent, impulsive, intimidating, or threatening in nature.\n", + " definition of HP:0000719 (Inappropriate behavior)\n", + " \n", + " \n", + " #Inappropriate behavior #Inappropriate behaviour\n", + " definition of HP:0000719 (Inappropriate behavior)\n", + " \n", + " \n", + " Posteriorly placed anus\n", + " definition of HP:0012890 (Posteriorly placed anus)\n", + " \n", + " \n", + " Posterior malposition of the anus.\n", + " definition of HP:0012890 (Posteriorly placed anus)\n", + " \n", + " \n", + " Humoral immunodeficiency\n", + " definition of HP:0005363 (Humoral immunodeficiency)\n", + " \n", + " \n", + " A general term referring to a defect in immunity resulting from impaired antibody production.\n", + " definition of HP:0005363 (Humoral immunodeficiency)\n", + " \n", + " \n", + " Anti-CV2/CRMP5 antibody positivity\n", + " definition of HP:5000006 (Anti-CV2/CRMP5 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CV2/CRMP5. Anti-CV2/CRMP5 autoantibody is the most commonly detected anti-neuronal autoantibody. Patients with typical paraneoplastic chorea show fully developed chorea in the course of weeks to months with acute inflammation in the striatum.\n", + " definition of HP:5000006 (Anti-CV2/CRMP5 antibody positivity)\n", + " \n", + " \n", + " #Anti-collapsin response-mediated protein 5 antibody #Anti-CV2 antibody #Anti-CV2/collapsin response mediator protein (CRMP)5 antibody\n", + " definition of HP:5000006 (Anti-CV2/CRMP5 antibody positivity)\n", + " \n", + " \n", + " Anti-Sj/ITPR1 antibody\n", + " definition of HP:5000042 (Anti-Sj/ITPR1 antibody)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Sj/inositol 1,4,5-trisphosphate receptor.\n", + " definition of HP:5000042 (Anti-Sj/ITPR1 antibody)\n", + " \n", + " \n", + " #Anti-Sj/inositol 1,4,5-trisphosphate receptor antibody\n", + " definition of HP:5000042 (Anti-Sj/ITPR1 antibody)\n", + " \n", + " \n", + " Absent superficial temporal artery pulse\n", + " definition of HP:6000786 (Absent superficial temporal artery pulse)\n", + " \n", + " \n", + " The pulsation of the superficial temporal artery cannot be detected on physical examination.\n", + " definition of HP:6000786 (Absent superficial temporal artery pulse)\n", + " \n", + " \n", + " Best corrected visual acuity 0.2 LogMAR\n", + " definition of HP:0030555 (Best corrected visual acuity 0.2 LogMAR)\n", + " \n", + " \n", + " Arcuate artery intima/media liquefactive necrosis\n", + " definition of HP:0033933 (Arcuate artery intima/media liquefactive necrosis)\n", + " \n", + " \n", + " A type of arcuate artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized.\n", + " definition of HP:0033933 (Arcuate artery intima/media liquefactive necrosis)\n", + " \n", + " \n", + " #Liquefactive necrosis of the arcuate artery intima/media\n", + " definition of HP:0033933 (Arcuate artery intima/media liquefactive necrosis)\n", + " \n", + " \n", + " Juvenile epithelial corneal dystrophy\n", + " definition of HP:0007755 (Juvenile epithelial corneal dystrophy)\n", + " \n", + " \n", + " Convex contour of sole\n", + " definition of HP:0011303 (Convex contour of sole)\n", + " \n", + " \n", + " The contour of the foot in lateral profile has a convex shape.\n", + " definition of HP:0011303 (Convex contour of sole)\n", + " \n", + " \n", + " Podocyte hypertrophy\n", + " definition of HP:0020133 (Podocyte hypertrophy)\n", + " \n", + " \n", + " Increased visceral epithelial cell size, with or without cytoplasmic protein droplets.\n", + " definition of HP:0020133 (Podocyte hypertrophy)\n", + " \n", + " \n", + " #Glomerular visceral epithelial cell hypertrophy #Hypertrophy of visceral epithelial cells\n", + " definition of HP:0020133 (Podocyte hypertrophy)\n", + " \n", + " \n", + " Decreased circulating vitamin B12 concentration\n", + " definition of HP:0100502 (Decreased circulating vitamin B12 concentration)\n", + " \n", + " \n", + " The concentration of vitamin B12 in the blood circulation is below the lower limit of normal.\n", + " definition of HP:0100502 (Decreased circulating vitamin B12 concentration)\n", + " \n", + " \n", + " #Vitamin B12 deficiency\n", + " definition of HP:0100502 (Decreased circulating vitamin B12 concentration)\n", + " \n", + " \n", + " Profound\n", + " definition of HP:0012829 (Profound)\n", + " \n", + " \n", + " Having an extremely high degree of severity. For quantitative traits, a deviation of more than five standard deviations from the appropriate population mean.\n", + " definition of HP:0012829 (Profound)\n", + " \n", + " \n", + " #Profound\n", + " definition of HP:0012829 (Profound)\n", + " \n", + " \n", + " Increased urine 4-hydroxy-2-oxoglutarate level\n", + " definition of HP:6001009 (Increased urine 4-hydroxy-2-oxoglutarate level)\n", + " \n", + " \n", + " The amount of 4-hydroxy-2-oxoglutarate in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6001009 (Increased urine 4-hydroxy-2-oxoglutarate level)\n", + " \n", + " \n", + " Increased circulating interleukin 8 concentration\n", + " definition of HP:0033178 (Increased circulating interleukin 8 concentration)\n", + " \n", + " \n", + " An increased concentration of interleukin-8 in the circulation.\n", + " definition of HP:0033178 (Increased circulating interleukin 8 concentration)\n", + " \n", + " \n", + " #Increased serum IL-8 #Increased serum interleukin 8 #Increased serum interleukin-8\n", + " definition of HP:0033178 (Increased circulating interleukin 8 concentration)\n", + " \n", + " \n", + " Hyperextensibility at elbow\n", + " definition of HP:0010485 (Hyperextensibility at elbow)\n", + " \n", + " \n", + " The ability of the elbow joint to move beyond its normal range of motion.\n", + " definition of HP:0010485 (Hyperextensibility at elbow)\n", + " \n", + " \n", + " Mesenteric torsion\n", + " definition of HP:6000632 (Mesenteric torsion)\n", + " \n", + " \n", + " Mesenteric torsion is a pathological rotation of the intestinal tract around the axis of the mesenteric root, resulting in rapid occlusion of the cranial mesenteric artery.\n", + " definition of HP:6000632 (Mesenteric torsion)\n", + " \n", + " \n", + " Cervical C5/C6 vertebrae fusion\n", + " definition of HP:0004635 (Cervical C5/C6 vertebrae fusion)\n", + " \n", + " \n", + " Fusion of the C5 and C6 cervical vertebrae.\n", + " definition of HP:0004635 (Cervical C5/C6 vertebrae fusion)\n", + " \n", + " \n", + " Fractured thoracic vertebra\n", + " definition of HP:0041073 (Fractured thoracic vertebra)\n", + " \n", + " \n", + " A partial or complete breakage of the thoracic vertebra.\n", + " definition of HP:0041073 (Fractured thoracic vertebra)\n", + " \n", + " \n", + " #bone thoracic vertebra\n", + " definition of HP:0041073 (Fractured thoracic vertebra)\n", + " \n", + " \n", + " Enuresis\n", + " definition of HP:0000805 (Enuresis)\n", + " \n", + " \n", + " Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible.\n", + " definition of HP:0000805 (Enuresis)\n", + " \n", + " \n", + " Pseudophakia\n", + " definition of HP:0500081 (Pseudophakia)\n", + " \n", + " \n", + " The term pseudophakia refers to having an artificial lens implanted after the natural eye lens has been removed. During cataract surgery the natural cloudy lens is replaced by an pseudophakia intraocular lens (IOL).\n", + " definition of HP:0500081 (Pseudophakia)\n", + " \n", + " \n", + " Abnormality of external jugular vein\n", + " definition of HP:0430024 (Abnormality of external jugular vein)\n", + " \n", + " \n", + " An abnormality of an external jugular vein of the neck.\n", + " definition of HP:0430024 (Abnormality of external jugular vein)\n", + " \n", + " \n", + " Decreased gonadotropin-stimulated testosterone-to-androstenedione ratio\n", + " definition of HP:0033527 (Decreased gonadotropin-stimulated testosterone-to-androstenedione ratio)\n", + " \n", + " \n", + " A reduced amount of testosterone relative in androstenedione in the blood circulation following administration of hCG (Human Chorionic Gonadotropin).\n", + " definition of HP:0033527 (Decreased gonadotropin-stimulated testosterone-to-androstenedione ratio)\n", + " \n", + " \n", + " #Decreased plasma testosterone-to-androstenedione ratio\n", + " definition of HP:0033527 (Decreased gonadotropin-stimulated testosterone-to-androstenedione ratio)\n", + " \n", + " \n", + " Nasolacrimal sac papilloma\n", + " definition of HP:0500036 (Nasolacrimal sac papilloma)\n", + " \n", + " \n", + " Benign tumor of the nasolacrimal sac.\n", + " definition of HP:0500036 (Nasolacrimal sac papilloma)\n", + " \n", + " \n", + " Abnormal renal corticomedullary differentiation\n", + " definition of HP:0005932 (Abnormal renal corticomedullary differentiation)\n", + " \n", + " \n", + " An abnormality of corticomedullary differentiation (CMD) on diagnostic imaging such as magnetic resonance imaging, computer tomography, or sonography. CMD is a difference in the visualization of cortex and medulla.\n", + " definition of HP:0005932 (Abnormal renal corticomedullary differentiation)\n", + " \n", + " \n", + " Delayed ossification of the trapezium\n", + " definition of HP:0004254 (Delayed ossification of the trapezium)\n", + " \n", + " \n", + " Formation of bone tissue of trapezium is less than expected for age.\n", + " definition of HP:0004254 (Delayed ossification of the trapezium)\n", + " \n", + " \n", + " #Delayed maturation of the trapezium\n", + " definition of HP:0004254 (Delayed ossification of the trapezium)\n", + " \n", + " \n", + " Positive urine cocaine test\n", + " definition of HP:0500108 (Positive urine cocaine test)\n", + " \n", + " \n", + " Detection of cocaine or its major metabolite, benzoylecgonine, in urine.\n", + " definition of HP:0500108 (Positive urine cocaine test)\n", + " \n", + " \n", + " Hypoplasia of the radius\n", + " definition of HP:0002984 (Hypoplasia of the radius)\n", + " \n", + " \n", + " Underdevelopment of the radius.\n", + " definition of HP:0002984 (Hypoplasia of the radius)\n", + " \n", + " \n", + " #Hypoplastic radii #Hypoplastic radius #Radial hypoplasia #Short radii #Short radius #Shortening of radius #Underdeveloped outer large forearm bone\n", + " definition of HP:0002984 (Hypoplasia of the radius)\n", + " \n", + " \n", + " Increased urinary copper concentration\n", + " definition of HP:0010839 (Increased urinary copper concentration)\n", + " \n", + " \n", + " An increased concentration of copper in the urine.\n", + " definition of HP:0010839 (Increased urinary copper concentration)\n", + " \n", + " \n", + " #Increased urinary copper concentration\n", + " definition of HP:0010839 (Increased urinary copper concentration)\n", + " \n", + " \n", + " Glomerular subendothelial widening\n", + " definition of HP:0033290 (Glomerular subendothelial widening)\n", + " \n", + " \n", + " Expansion of the space between the glomerular endothelium and lamina densa by electron-lucent material.\n", + " definition of HP:0033290 (Glomerular subendothelial widening)\n", + " \n", + " \n", + " Neoplasm of the endocrine system\n", + " definition of HP:0100568 (Neoplasm of the endocrine system)\n", + " \n", + " \n", + " A tumor (abnormal growth of tissue) of the endocrine system.\n", + " definition of HP:0100568 (Neoplasm of the endocrine system)\n", + " \n", + " \n", + " #Endocrine neoplasia\n", + " definition of HP:0100568 (Neoplasm of the endocrine system)\n", + " \n", + " \n", + " Abnormal iliac artery morphology\n", + " definition of HP:4000066 (Abnormal iliac artery morphology)\n", + " \n", + " \n", + " Any structural anomaly of the iliac artery.\n", + " definition of HP:4000066 (Abnormal iliac artery morphology)\n", + " \n", + " \n", + " Heloma\n", + " definition of HP:6000789 (Heloma)\n", + " \n", + " \n", + " A corn, also known as a clavus, heloma, or focal intractable plantar hyperkeratosis, is a type of callosity. Corns are uncomfortable, thickened skin lesions that result from repeated mechanical trauma due to friction or pressure forces.\n", + " definition of HP:6000789 (Heloma)\n", + " \n", + " \n", + " #Clavus #Corn #Focal intractable plantar hyperkeratosis\n", + " definition of HP:6000789 (Heloma)\n", + " \n", + " \n", + " Small intestinal bacterial overgrowth\n", + " definition of HP:0033163 (Small intestinal bacterial overgrowth)\n", + " \n", + " \n", + " An increased number and/or abnormal type of bacteria in the small bowel. Small intestinal bacterial overgrowth has been defined as the presence of greater than one hundred thousand bacteria (i.e. colony-forming units, CFU) per mL of proximal jejunal aspiration. The normal value is ten thousand or few CFU/ml.\n", + " definition of HP:0033163 (Small intestinal bacterial overgrowth)\n", + " \n", + " \n", + " Atopic dermatitis\n", + " definition of HP:0001047 (Atopic dermatitis)\n", + " \n", + " \n", + " Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage.\n", + " definition of HP:0001047 (Atopic dermatitis)\n", + " \n", + " \n", + " #Allergic eczema #Atopic dermatitis, chronic #Atopic eczema #Dermatitis, Atopic #Infantile eczema #Neurodermatitis #Prurigo Besnier\n", + " definition of HP:0001047 (Atopic dermatitis)\n", + " \n", + " \n", + " Focal aware vocal automatism seizure\n", + " definition of HP:0032915 (Focal aware vocal automatism seizure)\n", + " \n", + " \n", + " A type of focal automatism seizure characterized by the production of single or repetitive meaningless vocal sounds such as shrieks or grunts at onset and during which awareness is fully retained throughout.\n", + " definition of HP:0032915 (Focal aware vocal automatism seizure)\n", + " \n", + " \n", + " Elevated circulating very long-chain acylcarnitine concentration\n", + " definition of HP:0035022 (Elevated circulating very long-chain acylcarnitine concentration)\n", + " \n", + " \n", + " Concentration of very long-chain acylcarnitine in the blood circulation above the upper limit of normal. Acylcarnitines are classified according to the number of carbon atoms in the acyl-chain. Very long-chain acylcarnitines have twentyone or more carbon atoms in the acyl-chain (C21 and higher),\n", + " definition of HP:0035022 (Elevated circulating very long-chain acylcarnitine concentration)\n", + " \n", + " \n", + " Posterior lenticonus\n", + " definition of HP:0011502 (Posterior lenticonus)\n", + " \n", + " \n", + " A conical projection of the posterior surface of the lens, occurring as a developmental anomaly.\n", + " definition of HP:0011502 (Posterior lenticonus)\n", + " \n", + " \n", + " Constricted radius\n", + " definition of HP:0003976 (Constricted radius)\n", + " \n", + " \n", + " Horizontal crus of helix\n", + " definition of HP:0009897 (Horizontal crus of helix)\n", + " \n", + " \n", + " An abnormal horizontal axis orientation of the crus of the helix. That is, the main axis of the crus of the helix is perpendicular to the medial longitudinal axis of the ear, instead of sloping inferoposteriorly.\n", + " definition of HP:0009897 (Horizontal crus of helix)\n", + " \n", + " \n", + " #Helix, crus, horizontal #Horizontal orientation of the crus of helix #Horizontal orientation of the ear crus\n", + " definition of HP:0009897 (Horizontal crus of helix)\n", + " \n", + " \n", + " Short sternum\n", + " definition of HP:0000879 (Short sternum)\n", + " \n", + " \n", + " Decreased inferosuperior length of the sternum.\n", + " definition of HP:0000879 (Short sternum)\n", + " \n", + " \n", + " #Short sternum\n", + " definition of HP:0000879 (Short sternum)\n", + " \n", + " \n", + " Curved middle phalanx of the 3rd toe\n", + " definition of HP:0100443 (Curved middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " A deviation from the normal straight form of the middle phalanx of the third toe.\n", + " definition of HP:0100443 (Curved middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Curved middle bone of 3rd toe\n", + " definition of HP:0100443 (Curved middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " Progressive ophthalmoplegia\n", + " definition of HP:0007650 (Progressive ophthalmoplegia)\n", + " \n", + " \n", + " Triangular shaped distal phalanx of the 2nd toe\n", + " definition of HP:0010420 (Triangular shaped distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Triangular shaped outermost 2nd toe bone\n", + " definition of HP:0010420 (Triangular shaped distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Pinhole visual acuity 0.7 LogMAR\n", + " definition of HP:0030575 (Pinhole visual acuity 0.7 LogMAR)\n", + " \n", + " \n", + " Impairment of galactose metabolism\n", + " definition of HP:0004915 (Impairment of galactose metabolism)\n", + " \n", + " \n", + " An impairment of galactose metabolism.\n", + " definition of HP:0004915 (Impairment of galactose metabolism)\n", + " \n", + " \n", + " #Impaired galactose metabolism\n", + " definition of HP:0004915 (Impairment of galactose metabolism)\n", + " \n", + " \n", + " Entamoeba histolytica antibody positive in stool\n", + " definition of HP:0034868 (Entamoeba histolytica antibody positive in stool)\n", + " \n", + " \n", + " Demonstration of antibody directed against Entamoeba histolytica in stool.\n", + " definition of HP:0034868 (Entamoeba histolytica antibody positive in stool)\n", + " \n", + " \n", + " Anti-ganglioside antibody positivity\n", + " definition of HP:0031810 (Anti-ganglioside antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react to gangliosides.\n", + " definition of HP:0031810 (Anti-ganglioside antibody positivity)\n", + " \n", + " \n", + " Anti-human immunodeficiency virus antibody positivity\n", + " definition of HP:6000345 (Anti-human immunodeficiency virus antibody positivity)\n", + " \n", + " \n", + " The presence of antibodies in the blood circulation that react against a component of the human immunodeficiency virus (HIV).\n", + " definition of HP:6000345 (Anti-human immunodeficiency virus antibody positivity)\n", + " \n", + " \n", + " #Anti-HIV antibody positivity\n", + " definition of HP:6000345 (Anti-human immunodeficiency virus antibody positivity)\n", + " \n", + " \n", + " Conical maxillary incisor\n", + " definition of HP:0011083 (Conical maxillary incisor)\n", + " \n", + " \n", + " An abnormal conical morphology of either maxillary primary incisor tooth or maxillary permanent incisor tooth or both.\n", + " definition of HP:0011083 (Conical maxillary incisor)\n", + " \n", + " \n", + " #Cone shaped maxillary incisor #Cone shaped upper front tooth #Conoid maxillary incisor #Upper front shark tooth\n", + " definition of HP:0011083 (Conical maxillary incisor)\n", + " \n", + " \n", + " Structural foot deformity\n", + " definition of HP:0010219 (Structural foot deformity)\n", + " \n", + " \n", + " A foot deformity resulting due to an abnormality affecting the bones of the foot (as well as muscle and soft tissue). In contrast if only the muscle and soft tissue are affected the term positional foot deformity applies.\n", + " definition of HP:0010219 (Structural foot deformity)\n", + " \n", + " \n", + " Abnormal tongue physiology\n", + " definition of HP:0030810 (Abnormal tongue physiology)\n", + " \n", + " \n", + " Any functional anomaly of the tongue.\n", + " definition of HP:0030810 (Abnormal tongue physiology)\n", + " \n", + " \n", + " Impaired flow-mediated arterial dilatation\n", + " definition of HP:0032654 (Impaired flow-mediated arterial dilatation)\n", + " \n", + " \n", + " Flow-mediated dilatation is a noninvasive tests of endothelial function that leverages ultrasound to measure arterial diameter and its response to an increase in shear stress, which normally causes endothelium-dependent dilatation. This term pertains to an abnormal reduction in the magnitude of dilatation. Flow-mediated dilatation is usually measured at the brachial artery.\n", + " definition of HP:0032654 (Impaired flow-mediated arterial dilatation)\n", + " \n", + " \n", + " V-sign\n", + " definition of HP:0025536 (V-sign)\n", + " \n", + " \n", + " Erythematous, poikilodermatous macules distributed in a V-shaped distribution over the anterior neck and chest.\n", + " definition of HP:0025536 (V-sign)\n", + " \n", + " \n", + " Bilateral lung agenesis\n", + " definition of HP:0005944 (Bilateral lung agenesis)\n", + " \n", + " \n", + " Bilateral lack of development of the lungs.\n", + " definition of HP:0005944 (Bilateral lung agenesis)\n", + " \n", + " \n", + " #Absent lungs #Bilateral pulmonary agenesis\n", + " definition of HP:0005944 (Bilateral lung agenesis)\n", + " \n", + " \n", + " EEG with multifocal slow activity\n", + " definition of HP:0010844 (EEG with multifocal slow activity)\n", + " \n", + " \n", + " Multifocal slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG).\n", + " definition of HP:0010844 (EEG with multifocal slow activity)\n", + " \n", + " \n", + " Hypoplasia of the capital femoral epiphysis\n", + " definition of HP:0003090 (Hypoplasia of the capital femoral epiphysis)\n", + " \n", + " \n", + " Underdevelopment of the proximal epiphysis of the femur.\n", + " definition of HP:0003090 (Hypoplasia of the capital femoral epiphysis)\n", + " \n", + " \n", + " #Small capital femoral epiphyses #Small femoral capital epiphyses #Small innermost thighbone end part #Small proximal femoral epiphyses #Underdevelopment of the innermost thighbone end part\n", + " definition of HP:0003090 (Hypoplasia of the capital femoral epiphysis)\n", + " \n", + " \n", + " Cervical ectropion\n", + " definition of HP:0030158 (Cervical ectropion)\n", + " \n", + " \n", + " Cervical ectropion occurs when eversion of the endocervix exposes columnar epithelium to the vaginal milieu\n", + " definition of HP:0030158 (Cervical ectropion)\n", + " \n", + " \n", + " #Cervical ectopy\n", + " definition of HP:0030158 (Cervical ectropion)\n", + " \n", + " \n", + " Low maternal circulating estriol concentration\n", + " definition of HP:0008073 (Low maternal circulating estriol concentration)\n", + " \n", + " \n", + " An abnormally low concentration of serum conjugated estriol as compared to normal values for gestational-age.\n", + " definition of HP:0008073 (Low maternal circulating estriol concentration)\n", + " \n", + " \n", + " #Low maternal serum estriol\n", + " definition of HP:0008073 (Low maternal circulating estriol concentration)\n", + " \n", + " \n", + " Decreased CSF epinephrine concentration\n", + " definition of HP:0034872 (Decreased CSF epinephrine concentration)\n", + " \n", + " \n", + " Concentration of epinephrine in the cerebrospinal fluid below the lower limit of normal.\n", + " definition of HP:0034872 (Decreased CSF epinephrine concentration)\n", + " \n", + " \n", + " Modic type I vertebral endplate changes\n", + " definition of HP:0030776 (Modic type I vertebral endplate changes)\n", + " \n", + " \n", + " An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1-weighted sequences and high signal on T2-weighted sequences. Modic type I changes are thought to represent bone marrow edema and inflammation.\n", + " definition of HP:0030776 (Modic type I vertebral endplate changes)\n", + " \n", + " \n", + " #Modic type 1 vertebral endplate changes\n", + " definition of HP:0030776 (Modic type I vertebral endplate changes)\n", + " \n", + " \n", + " Reduced leukocyte alpha-mannosidase activity\n", + " definition of HP:4000190 (Reduced leukocyte alpha-mannosidase activity)\n", + " \n", + " \n", + " Concentration or activity of an alpha-mannosidase as measured in leukocytes is below the limits of normal.\n", + " definition of HP:4000190 (Reduced leukocyte alpha-mannosidase activity)\n", + " \n", + " \n", + " Visual acuity no light perception\n", + " definition of HP:0030553 (Visual acuity no light perception)\n", + " \n", + " \n", + " Sclerosis of the proximal phalanx of the 3rd toe\n", + " definition of HP:0100932 (Sclerosis of the proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " An elevation in bone density in the proximal phalanx of the third toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.\n", + " definition of HP:0100932 (Sclerosis of the proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Increased bone density in the innermost bone of the 3rd toe\n", + " definition of HP:0100932 (Sclerosis of the proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Intervertebral disk calcification\n", + " definition of HP:0005645 (Intervertebral disk calcification)\n", + " \n", + " \n", + " The presence of abnormal calcium deposition of the intervertebral disk.\n", + " definition of HP:0005645 (Intervertebral disk calcification)\n", + " \n", + " \n", + " #Intervertebral disc calcification #Multiple intervertebral disc calcifications #Multiple intervertebral disk calcifications\n", + " definition of HP:0005645 (Intervertebral disk calcification)\n", + " \n", + " \n", + " Descending aortic dissection\n", + " definition of HP:0012499 (Descending aortic dissection)\n", + " \n", + " \n", + " A separation of the layers within the wall of the descending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space.\n", + " definition of HP:0012499 (Descending aortic dissection)\n", + " \n", + " \n", + " #Type B aortic dissection\n", + " definition of HP:0012499 (Descending aortic dissection)\n", + " \n", + " \n", + " Honeycomb lung\n", + " definition of HP:0025175 (Honeycomb lung)\n", + " \n", + " \n", + " Honeycombing represents destroyed and fibrotic lung tissue containing numerous cystic airspaces with thick fibrous walls, representing the late stage of various lung diseases, with complete loss of acinar architecture. The cysts range in size from a few millimeters to several centimeters in diameter, have variable wall thickness, and are lined by metaplastic bronchiolar epithelium. On chest radiographs, honeycombing appears as closely approximated ring shadows, typically 3-10 mm in diameter with walls 1-3 mm in thickness, that resemble a honeycomb; the finding implies end-stage lung disease. On CT scans, the appearance is of clustered cystic air spaces, typically of comparable diameters on the order of 3-10 mm but occasionally as large as 2.5 cm. Honeycombing is usually subpleural and is characterized by well-defined walls. It is a CT feature of established pulmonary fibrosis. Because honeycombing is often considered specific for pulmonary fibrosis and is an important criterion in the diagnosis of usual interstitial pneumonia, the term should be used with care, as it may directly impact patient care.\n", + " definition of HP:0025175 (Honeycomb lung)\n", + " \n", + " \n", + " #Honeycomb cysts #Honeycombing\n", + " definition of HP:0025175 (Honeycomb lung)\n", + " \n", + " \n", + " Ambiguous genitalia, female\n", + " definition of HP:0000061 (Ambiguous genitalia, female)\n", + " \n", + " \n", + " Ambiguous genitalia in an individual with XX genetic gender.\n", + " definition of HP:0000061 (Ambiguous genitalia, female)\n", + " \n", + " \n", + " #Atypical appearance of female genitals\n", + " definition of HP:0000061 (Ambiguous genitalia, female)\n", + " \n", + " \n", + " Abnormal cartilage collagen\n", + " definition of HP:0008271 (Abnormal cartilage collagen)\n", + " \n", + " \n", + " Abnormal morphology of collagen fibers in cartilage. In cartilage, collagen II, actually a collagen II:IX:XI heterofibril, is by far the most important type of collagen. A number of abnormalities may be appreciated by electron micrography or biochemical investigations, including sparse collagen fibers in the cartilage matrix.\n", + " definition of HP:0008271 (Abnormal cartilage collagen)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the phalanges of the thumb\n", + " definition of HP:0009658 (Aplasia/Hypoplasia of the phalanges of the thumb)\n", + " \n", + " \n", + " #Absent/small thumb bones #Absent/underdeveloped thumb bones\n", + " definition of HP:0009658 (Aplasia/Hypoplasia of the phalanges of the thumb)\n", + " \n", + " \n", + " Conjunctival membrane\n", + " definition of HP:0034814 (Conjunctival membrane)\n", + " \n", + " \n", + " Formation of a sheet of tissue by coagulum of exudate over the conjunctiva of the eye that if removed leaves behind a denuded bleeding surface.\n", + " definition of HP:0034814 (Conjunctival membrane)\n", + " \n", + " \n", + " Gastrointestinal angiodysplasia\n", + " definition of HP:0000471 (Gastrointestinal angiodysplasia)\n", + " \n", + " \n", + " Dysplasia affecting the vasculature of the gastrointestinal tract.\n", + " definition of HP:0000471 (Gastrointestinal angiodysplasia)\n", + " \n", + " \n", + " #GI angiodysplasia\n", + " definition of HP:0000471 (Gastrointestinal angiodysplasia)\n", + " \n", + " \n", + " Pleural thickening\n", + " definition of HP:0031944 (Pleural thickening)\n", + " \n", + " \n", + " An increase in the thickness of the pleura, generally related to scarring of the pleural tissue.\n", + " definition of HP:0031944 (Pleural thickening)\n", + " \n", + " \n", + " #Pleural incrassation\n", + " definition of HP:0031944 (Pleural thickening)\n", + " \n", + " \n", + " Multidrug-resistant nephrotic syndrome\n", + " definition of HP:0012589 (Multidrug-resistant nephrotic syndrome)\n", + " \n", + " \n", + " A form of nephrotic syndrome that does not respond to any immunosuppresive treatment.\n", + " definition of HP:0012589 (Multidrug-resistant nephrotic syndrome)\n", + " \n", + " \n", + " Irregular tarsal ossification\n", + " definition of HP:0008134 (Irregular tarsal ossification)\n", + " \n", + " \n", + " Defective ossification in an irregular pattern of the seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.\n", + " definition of HP:0008134 (Irregular tarsal ossification)\n", + " \n", + " \n", + " #Irregular tarsal centers #Irregular tarsal centres\n", + " definition of HP:0008134 (Irregular tarsal ossification)\n", + " \n", + " \n", + " Flank mass\n", + " definition of HP:6000363 (Flank mass)\n", + " \n", + " \n", + " An abnormal enlargement or swelling in the flank, which is the fleshy part of the side of the body between the ribs and the hip.\n", + " definition of HP:6000363 (Flank mass)\n", + " \n", + " \n", + " Focal friction-related palmoplantar hyperkeratosis\n", + " definition of HP:0007497 (Focal friction-related palmoplantar hyperkeratosis)\n", + " \n", + " \n", + " Hyperkeratosis affecting the palm of the hand and the sole of the foot in areas exposed to friction.\n", + " definition of HP:0007497 (Focal friction-related palmoplantar hyperkeratosis)\n", + " \n", + " \n", + " #Hyperkeratosis, palmoplantar, focal friction-related\n", + " definition of HP:0007497 (Focal friction-related palmoplantar hyperkeratosis)\n", + " \n", + " \n", + " Ultra-low vision with retained light projection\n", + " definition of HP:0032285 (Ultra-low vision with retained light projection)\n", + " \n", + " \n", + " Ultra-low vision but with retained ability to perceive the difference between light and dark. Also when light is projected in each of the four quadrants of the visual field, the individual is able to correctly identify the origin of the light stimulus.\n", + " definition of HP:0032285 (Ultra-low vision with retained light projection)\n", + " \n", + " \n", + " Congenital hip dislocation\n", + " definition of HP:0001374 (Congenital hip dislocation)\n", + " \n", + " \n", + " #Congenital dislocation of the hip #Congenital dislocation of the hips #Congenital hip anomaly #Congenital hip dislocations #Dislocated hip since birth\n", + " definition of HP:0001374 (Congenital hip dislocation)\n", + " \n", + " \n", + " Abdominal aortic dissection\n", + " definition of HP:0033311 (Abdominal aortic dissection)\n", + " \n", + " \n", + " A tear in the intimal layer of the abdominal aorta causing a separation between the intima and the medial layers.\n", + " definition of HP:0033311 (Abdominal aortic dissection)\n", + " \n", + " \n", + " Abnormal choroid morphology\n", + " definition of HP:0000610 (Abnormal choroid morphology)\n", + " \n", + " \n", + " Any structural abnormality of the choroid.\n", + " definition of HP:0000610 (Abnormal choroid morphology)\n", + " \n", + " \n", + " #Abnormality of the choroid\n", + " definition of HP:0000610 (Abnormal choroid morphology)\n", + " \n", + " \n", + " Corneal perforation\n", + " definition of HP:0100583 (Corneal perforation)\n", + " \n", + " \n", + " A rupture of the cornea through which a portion of the iris protrudes.\n", + " definition of HP:0100583 (Corneal perforation)\n", + " \n", + " \n", + " #Iridocele\n", + " definition of HP:0100583 (Corneal perforation)\n", + " \n", + " \n", + " Skeletal muscle fibrosis\n", + " definition of HP:0030951 (Skeletal muscle fibrosis)\n", + " \n", + " \n", + " Excessive formation of fibrous bands of scar tissue in between muscle fibers.\n", + " definition of HP:0030951 (Skeletal muscle fibrosis)\n", + " \n", + " \n", + " #Muscle biopsy: fibrosis\n", + " definition of HP:0030951 (Skeletal muscle fibrosis)\n", + " \n", + " \n", + " Abnormal sperm mid-piece morphology\n", + " definition of HP:0012867 (Abnormal sperm mid-piece morphology)\n", + " \n", + " \n", + " A structural abnormality of the sperm mid-piece.\n", + " definition of HP:0012867 (Abnormal sperm mid-piece morphology)\n", + " \n", + " \n", + " #Sperm mid-piece anomaly\n", + " definition of HP:0012867 (Abnormal sperm mid-piece morphology)\n", + " \n", + " \n", + " Focal impaired awareness motor seizure with dysarthria/anarthria\n", + " definition of HP:0032719 (Focal impaired awareness motor seizure with dysarthria/anarthria)\n", + " \n", + " \n", + " A focal motor seizure with dysarthria / anarthria characterized by impaired awareness at some point during the seizure.\n", + " definition of HP:0032719 (Focal impaired awareness motor seizure with dysarthria/anarthria)\n", + " \n", + " \n", + " #Focal motor impaired awareness seizure with dysarthria/anarthria\n", + " definition of HP:0032719 (Focal impaired awareness motor seizure with dysarthria/anarthria)\n", + " \n", + " \n", + " Focal cortical dysplasia type III\n", + " definition of HP:0032054 (Focal cortical dysplasia type III)\n", + " \n", + " \n", + " A type of focal cortical dysplasia that is characterized by cortical lamination abnormalities associated with a principal lesion, usually adjacent to or affecting the same cortical area/lobe.\n", + " definition of HP:0032054 (Focal cortical dysplasia type III)\n", + " \n", + " \n", + " Cortical radial artery hypercellularity\n", + " definition of HP:0033954 (Cortical radial artery hypercellularity)\n", + " \n", + " \n", + " Proliferation of endothelial cells (increased number of cells) of the lining (endothelium) of the cortical radial arteries (also known as interlobular arteries) of the kidney.\n", + " definition of HP:0033954 (Cortical radial artery hypercellularity)\n", + " \n", + " \n", + " #Endoarterial hypercellularity within interlobular artery\n", + " definition of HP:0033954 (Cortical radial artery hypercellularity)\n", + " \n", + " \n", + " Abnormal circulating free T4 concentration\n", + " definition of HP:0033076 (Abnormal circulating free T4 concentration)\n", + " \n", + " \n", + " A deviation from the normal concentration of free thyroxine (T4) in the blood circulation. Circulating T4 is almost entirely bound to specific transport proteins such as thyroxine-binding globulin (TBG) but it is the unbound (free) fraction that is able to enter tissues and exert effects.\n", + " definition of HP:0033076 (Abnormal circulating free T4 concentration)\n", + " \n", + " \n", + " #Abnormal circulating free T4 level #Abnormal circulating free thyroxine level\n", + " definition of HP:0033076 (Abnormal circulating free T4 concentration)\n", + " \n", + " \n", + " Patchy sclerosis of the distal phalanx of the thumb\n", + " definition of HP:0009646 (Patchy sclerosis of the distal phalanx of the thumb)\n", + " \n", + " \n", + " An uneven increase in bone density of the distal phalanx of the thumb.\n", + " definition of HP:0009646 (Patchy sclerosis of the distal phalanx of the thumb)\n", + " \n", + " \n", + " #Uneven increase in bone density in the outermost bone of the thumb\n", + " definition of HP:0009646 (Patchy sclerosis of the distal phalanx of the thumb)\n", + " \n", + " \n", + " Thickened glomerular basement membranes with no electron dense deposits\n", + " definition of HP:0033285 (Thickened glomerular basement membranes with no electron dense deposits)\n", + " \n", + " \n", + " Prominent glomerular basement membrane (GBM) reflecting an increase in thickness (subjective estimate) with no evidence of electron dense deposits by electron microscopy.\n", + " definition of HP:0033285 (Thickened glomerular basement membranes with no electron dense deposits)\n", + " \n", + " \n", + " Enlarged sylvian cistern\n", + " definition of HP:0100952 (Enlarged sylvian cistern)\n", + " \n", + " \n", + " An increase in size of the subarachnoid space associated with the lateral cerebral sulcus (Sylvian fissure).\n", + " definition of HP:0100952 (Enlarged sylvian cistern)\n", + " \n", + " \n", + " #Enlarged lateral fissure #Enlarged lateral sulcus #Enlarged sylvian fissure\n", + " definition of HP:0100952 (Enlarged sylvian cistern)\n", + " \n", + " \n", + " Anti-desmocollin antibody positivity\n", + " definition of HP:6000448 (Anti-desmocollin antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against desmocollin.\n", + " definition of HP:6000448 (Anti-desmocollin antibody positivity)\n", + " \n", + " \n", + " Horizontal opticokinetic nystagmus\n", + " definition of HP:0008026 (Horizontal opticokinetic nystagmus)\n", + " \n", + " \n", + " Abnormality of folate metabolism\n", + " definition of HP:0012335 (Abnormality of folate metabolism)\n", + " \n", + " \n", + " An abnormality of the metabolism of folic acid, which is also known as vitamin B9.\n", + " definition of HP:0012335 (Abnormality of folate metabolism)\n", + " \n", + " \n", + " Intrapulmonary lobar sequestration\n", + " definition of HP:0011278 (Intrapulmonary lobar sequestration)\n", + " \n", + " \n", + " A type of pulmonary sequestration that occurs within the visceral pleura of normal lung tissue, usually without communication with the tracheobronchial tree.\n", + " definition of HP:0011278 (Intrapulmonary lobar sequestration)\n", + " \n", + " \n", + " #Intralobar sequestration #Intrapulmonary sequestration\n", + " definition of HP:0011278 (Intrapulmonary lobar sequestration)\n", + " \n", + " \n", + " Fat malabsorption\n", + " definition of HP:0002630 (Fat malabsorption)\n", + " \n", + " \n", + " Abnormality of the absorption of fat from the gastrointestinal tract.\n", + " definition of HP:0002630 (Fat malabsorption)\n", + " \n", + " \n", + " Microspherophakia\n", + " definition of HP:0030961 (Microspherophakia)\n", + " \n", + " \n", + " Microspherophakia is a rare congenital anomaly characterized by the abnormal spherical shape of the crystalline lens. It is characterized by an increased anteroposterior thickness of the lens associated with reduced equatorial diameter. The primary pathology lies in the development of zonules. The condition is often bilateral and is characterized by small, thick, and spherical lenses.\n", + " definition of HP:0030961 (Microspherophakia)\n", + " \n", + " \n", + " Occipital myelomeningocele\n", + " definition of HP:0007271 (Occipital myelomeningocele)\n", + " \n", + " \n", + " Constitutional symptom\n", + " definition of HP:0025142 (Constitutional symptom)\n", + " \n", + " \n", + " A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual.\n", + " definition of HP:0025142 (Constitutional symptom)\n", + " \n", + " \n", + " Grade IV vesicoureteral reflux\n", + " definition of HP:0033741 (Grade IV vesicoureteral reflux)\n", + " \n", + " \n", + " Vesicoureteral reflux with more-extensive dilation with blunting of the calyces and tortuosity of the ureter.\n", + " definition of HP:0033741 (Grade IV vesicoureteral reflux)\n", + " \n", + " \n", + " #Grade IV VUR #VUR IV\n", + " definition of HP:0033741 (Grade IV vesicoureteral reflux)\n", + " \n", + " \n", + " Abnormal circulating beta-carotene concentration\n", + " definition of HP:0430072 (Abnormal circulating beta-carotene concentration)\n", + " \n", + " \n", + " Any deviation of the concentration of beta-carotene in the blood circulation from the normal range.\n", + " definition of HP:0430072 (Abnormal circulating beta-carotene concentration)\n", + " \n", + " \n", + " Mitral regurgitation\n", + " definition of HP:0001653 (Mitral regurgitation)\n", + " \n", + " \n", + " An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.\n", + " definition of HP:0001653 (Mitral regurgitation)\n", + " \n", + " \n", + " #Mitral incompetence #Mitral insufficiency #Mitral valve insufficiency #Mitral valve regurgitation\n", + " definition of HP:0001653 (Mitral regurgitation)\n", + " \n", + " \n", + " Deviation of the hand or of fingers of the hand\n", + " definition of HP:0009484 (Deviation of the hand or of fingers of the hand)\n", + " \n", + " \n", + " Displacement of the hand or of fingers of the hand from their normal position.\n", + " definition of HP:0009484 (Deviation of the hand or of fingers of the hand)\n", + " \n", + " \n", + " #Displaced hand or fingers of the hand\n", + " definition of HP:0009484 (Deviation of the hand or of fingers of the hand)\n", + " \n", + " \n", + " Startle-induced seizure\n", + " definition of HP:0020214 (Startle-induced seizure)\n", + " \n", + " \n", + " Startle-induced seizures are triggered by multiple and non-specific stimuli (auditory, somatosensory, and rarely visual) and are characterized by their sudden unexpected nature. Sudden noise rather than pure sound is the most effective acoustic stimulus.\n", + " definition of HP:0020214 (Startle-induced seizure)\n", + " \n", + " \n", + " Duplication of phalanx of the 4th toe\n", + " definition of HP:0010379 (Duplication of phalanx of the 4th toe)\n", + " \n", + " \n", + " Partial or complete duplication of phalanx of fourth toe.\n", + " definition of HP:0010379 (Duplication of phalanx of the 4th toe)\n", + " \n", + " \n", + " #Duplication of 4th toe bone #Duplication of phalanx of the fourth toe #Partial/complete duplication of the phalanges of the 4th toe\n", + " definition of HP:0010379 (Duplication of phalanx of the 4th toe)\n", + " \n", + " \n", + " Ivory epiphysis of the distal phalanx of the 3rd finger\n", + " definition of HP:0009341 (Ivory epiphysis of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Sclerosis of the epiphysis of the distal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.\n", + " definition of HP:0009341 (Ivory epiphysis of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Increased bone density of end part of the outermost middle finger bone\n", + " definition of HP:0009341 (Ivory epiphysis of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Lichenification\n", + " definition of HP:0100725 (Lichenification)\n", + " \n", + " \n", + " Thickening and hardening of the epidermis seen with exaggeration of normal skin lines.\n", + " definition of HP:0100725 (Lichenification)\n", + " \n", + " \n", + " Peripheral visual field loss\n", + " definition of HP:0007994 (Peripheral visual field loss)\n", + " \n", + " \n", + " Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision.\n", + " definition of HP:0007994 (Peripheral visual field loss)\n", + " \n", + " \n", + " #Kalnienk vision #Loss of peripheral vision\n", + " definition of HP:0007994 (Peripheral visual field loss)\n", + " \n", + " \n", + " Abnormal putamen morphology\n", + " definition of HP:0031982 (Abnormal putamen morphology)\n", + " \n", + " \n", + " Any structural anomaly of the putamen, a brain nucleus which together with the caudate nucleus and fundus striati makes up the striatum.\n", + " definition of HP:0031982 (Abnormal putamen morphology)\n", + " \n", + " \n", + " Increased circulating thyroglobulin concentration\n", + " definition of HP:0025484 (Increased circulating thyroglobulin concentration)\n", + " \n", + " \n", + " An abnormal elevation of the concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones.\n", + " definition of HP:0025484 (Increased circulating thyroglobulin concentration)\n", + " \n", + " \n", + " #Increased circulating thyroglobulin level\n", + " definition of HP:0025484 (Increased circulating thyroglobulin concentration)\n", + " \n", + " \n", + " Excessive cerumen\n", + " definition of HP:0030789 (Excessive cerumen)\n", + " \n", + " \n", + " An increased quantity of earwax.\n", + " definition of HP:0030789 (Excessive cerumen)\n", + " \n", + " \n", + " Simultanapraxia\n", + " definition of HP:0040201 (Simultanapraxia)\n", + " \n", + " \n", + " A subset of motor impersistence, defined as the inability to perform more than two of the simple voluntary acts simultaneously, such as closing the eyes and protruding the tongue.\n", + " definition of HP:0040201 (Simultanapraxia)\n", + " \n", + " \n", + " Mycobacterium abscessus abscessus infection\n", + " definition of HP:0032130 (Mycobacterium abscessus abscessus infection)\n", + " \n", + " \n", + " Mycobacterium abscessus complex comprises a group of rapidly growing, multidrug-resistant, nontuberculous mycobacteria that are responsible for a wide spectrum of skin and soft tissue diseases, central nervous system infections, bacteremia, and ocular and other infections.\n", + " definition of HP:0032130 (Mycobacterium abscessus abscessus infection)\n", + " \n", + " \n", + " Finger syndactyly\n", + " definition of HP:0006101 (Finger syndactyly)\n", + " \n", + " \n", + " Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as \\"bony\\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as \\"Symphalangism\\".\n", + " definition of HP:0006101 (Finger syndactyly)\n", + " \n", + " \n", + " #Partial syndactyly\n", + " definition of HP:0006101 (Finger syndactyly)\n", + " \n", + " \n", + " Atretic vas deferens\n", + " definition of HP:0030997 (Atretic vas deferens)\n", + " \n", + " \n", + " Abnormal closure or blockage of the vas deferens.\n", + " definition of HP:0030997 (Atretic vas deferens)\n", + " \n", + " \n", + " #Atresia of the vas deferens #Vas deferens atresia\n", + " definition of HP:0030997 (Atretic vas deferens)\n", + " \n", + " \n", + " Diminished tissue fumarylacetoacetate hydrolase activity\n", + " definition of HP:6000827 (Diminished tissue fumarylacetoacetate hydrolase activity)\n", + " \n", + " \n", + " Concentration or activity of fumarylacetoacetate hydrolase (FAH; EC 3.7.1.2) below the lower limit of normal. This enzyme can be measured in multiple tissues including leukocytes and cultured fibroblasts.\n", + " definition of HP:6000827 (Diminished tissue fumarylacetoacetate hydrolase activity)\n", + " \n", + " \n", + " Paralytic ileus\n", + " definition of HP:0002590 (Paralytic ileus)\n", + " \n", + " \n", + " Medial rectus muscle overaction\n", + " definition of HP:0031754 (Medial rectus muscle overaction)\n", + " \n", + " \n", + " Excessive action of the medial rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist.\n", + " definition of HP:0031754 (Medial rectus muscle overaction)\n", + " \n", + " \n", + " Increased circulating corticosterone level\n", + " definition of HP:0032362 (Increased circulating corticosterone level)\n", + " \n", + " \n", + " An abnormally elevated concentration of corticosterone in the blood.\n", + " definition of HP:0032362 (Increased circulating corticosterone level)\n", + " \n", + " \n", + " Increased endomysial connective tissue\n", + " definition of HP:0100297 (Increased endomysial connective tissue)\n", + " \n", + " \n", + " An increased volume of the endomysium, which is a connective tissue sheath that surrounds each muscule fiber. Together, bundles of muscle fibers form a fasciculus, surrounded by another layer of connective tissue called the perimysium.\n", + " definition of HP:0100297 (Increased endomysial connective tissue)\n", + " \n", + " \n", + " #Endomysial fibrosis\n", + " definition of HP:0100297 (Increased endomysial connective tissue)\n", + " \n", + " \n", + " Abnormal epiglottis morphology\n", + " definition of HP:0005483 (Abnormal epiglottis morphology)\n", + " \n", + " \n", + " An abnormality of the epiglottis.\n", + " definition of HP:0005483 (Abnormal epiglottis morphology)\n", + " \n", + " \n", + " #Abnormality of the epiglottis\n", + " definition of HP:0005483 (Abnormal epiglottis morphology)\n", + " \n", + " \n", + " Toenail dysplasia\n", + " definition of HP:0100797 (Toenail dysplasia)\n", + " \n", + " \n", + " An abnormality of the development of the toenails.\n", + " definition of HP:0100797 (Toenail dysplasia)\n", + " \n", + " \n", + " #Abnormal toenail development #Dysplastic toenails\n", + " definition of HP:0100797 (Toenail dysplasia)\n", + " \n", + " \n", + " Paroxysmal nocturnal hemoglobinuria\n", + " definition of HP:0004818 (Paroxysmal nocturnal hemoglobinuria)\n", + " \n", + " \n", + " #Paroxysmal nocturnal haemoglobinuria\n", + " definition of HP:0004818 (Paroxysmal nocturnal hemoglobinuria)\n", + " \n", + " \n", + " Abnormal corpus callosum morphology\n", + " definition of HP:0001273 (Abnormal corpus callosum morphology)\n", + " \n", + " \n", + " Abnormality of the corpus callosum.\n", + " definition of HP:0001273 (Abnormal corpus callosum morphology)\n", + " \n", + " \n", + " #Abnormal corpus callosum #Abnormality of the corpus callosum #Corpus callosum abnormality\n", + " definition of HP:0001273 (Abnormal corpus callosum morphology)\n", + " \n", + " \n", + " History of mastectomy\n", + " definition of HP:6000003 (History of mastectomy)\n", + " \n", + " \n", + " Past medical history of surgical breast removal.\n", + " definition of HP:6000003 (History of mastectomy)\n", + " \n", + " \n", + " Fragmentation of the epiphyses of the toes\n", + " definition of HP:0010166 (Fragmentation of the epiphyses of the toes)\n", + " \n", + " \n", + " #Fragmentation of the end part of the toe bones\n", + " definition of HP:0010166 (Fragmentation of the epiphyses of the toes)\n", + " \n", + " \n", + " Positive CSF enterovirus nucleic acid test\n", + " definition of HP:6000547 (Positive CSF enterovirus nucleic acid test)\n", + " \n", + " \n", + " Detection of enteroviral nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction (PCR) or reverse transcriptase (RT)-PCR.\n", + " definition of HP:6000547 (Positive CSF enterovirus nucleic acid test)\n", + " \n", + " \n", + " Synostosis of carpal bones\n", + " definition of HP:0005048 (Synostosis of carpal bones)\n", + " \n", + " \n", + " #Fusion of wrist bones\n", + " definition of HP:0005048 (Synostosis of carpal bones)\n", + " \n", + " \n", + " EMG: positive sharp waves\n", + " definition of HP:0030007 (EMG: positive sharp waves)\n", + " \n", + " \n", + " These are spontaneous firing action potentials stimulated by needle movement of an injured muscle fiber. There is propagation to, but not past, the needle tip. This inhibits the display of the negative deflection of the waveform.\n", + " definition of HP:0030007 (EMG: positive sharp waves)\n", + " \n", + " \n", + " Sebaceous gland carcinoma\n", + " definition of HP:0030410 (Sebaceous gland carcinoma)\n", + " \n", + " \n", + " A carcinoma that arises in a sebaseous gland (an exocrine gland of the skin that secretes sebum, a waxy substance)\n", + " definition of HP:0030410 (Sebaceous gland carcinoma)\n", + " \n", + " \n", + " #Sebaceous carcinoma\n", + " definition of HP:0030410 (Sebaceous gland carcinoma)\n", + " \n", + " \n", + " Narrow nasal bridge\n", + " definition of HP:0000446 (Narrow nasal bridge)\n", + " \n", + " \n", + " Decreased width of the bony bridge of the nose.\n", + " definition of HP:0000446 (Narrow nasal bridge)\n", + " \n", + " \n", + " #Narrow bridge of nose #Narrow nasal bridge #Narrow nasal root #Nasal Bridge, Narrow #Nasal bridge, thin\n", + " definition of HP:0000446 (Narrow nasal bridge)\n", + " \n", + " \n", + " Decreased circulating C1-esterase inhibitor concentration\n", + " definition of HP:0034204 (Decreased circulating C1-esterase inhibitor concentration)\n", + " \n", + " \n", + " Decreased concentration of C1-esterase inhibitor (C1INH) in the blood circulation.\n", + " definition of HP:0034204 (Decreased circulating C1-esterase inhibitor concentration)\n", + " \n", + " \n", + " Persistent human papillomavirus infection\n", + " definition of HP:0020114 (Persistent human papillomavirus infection)\n", + " \n", + " \n", + " Human papillomaviruses (HPVs) are small oncogenic viruses. HPV has been shown to cause a variety of lesions and malignancies, which predominantly affect the anogenital region. Low-risk, non-oncogenic HPV types are associated with anogenital warts and recurrent respiratory papillomatosis while high-risk, oncogenic types are associated with cervical, penile, anal, vaginal, vulvar, and oropharyngeal cancers. Infection with anogenital HPV is usually asymptomatic and resolves spontaneously without consequences in the immunocompetent host. When disease does occur, the most common manifestation is genital warts, which may be small papules, or flat, smooth or pedunculated lesions. This resolution of HPV lesions is not generally seen in the immunosuppressed, resulting in severe, persistent and extensive manifestations of HPV disease.\n", + " definition of HP:0020114 (Persistent human papillomavirus infection)\n", + " \n", + " \n", + " #Chronic HPV infection #Persistent HPV infection\n", + " definition of HP:0020114 (Persistent human papillomavirus infection)\n", + " \n", + " \n", + " Short nail\n", + " definition of HP:0001799 (Short nail)\n", + " \n", + " \n", + " Decreased length of nail.\n", + " definition of HP:0001799 (Short nail)\n", + " \n", + " \n", + " #Short nail #Short nails\n", + " definition of HP:0001799 (Short nail)\n", + " \n", + " \n", + " Ivory epiphysis of the proximal phalanx of the 3rd toe\n", + " definition of HP:0100163 (Ivory epiphysis of the proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Increased bone density of end part of the innermost bone of the 3rd toe\n", + " definition of HP:0100163 (Ivory epiphysis of the proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Non-necrotizing granuloma\n", + " definition of HP:0033805 (Non-necrotizing granuloma)\n", + " \n", + " \n", + " A granuloma which is not associated with necrotic changes.\n", + " definition of HP:0033805 (Non-necrotizing granuloma)\n", + " \n", + " \n", + " Acute hepatic steatosis\n", + " definition of HP:0006573 (Acute hepatic steatosis)\n", + " \n", + " \n", + " An acute form of hepatic steatosis.\n", + " definition of HP:0006573 (Acute hepatic steatosis)\n", + " \n", + " \n", + " #Acute fatty liver\n", + " definition of HP:0006573 (Acute hepatic steatosis)\n", + " \n", + " \n", + " Reduced brain gamma-aminobutyric acid level by MRS\n", + " definition of HP:0500021 (Reduced brain gamma-aminobutyric acid level by MRS)\n", + " \n", + " \n", + " An decreased level of gamma-aminobutyric acid in the brain identified by magnetic resonance spectroscopy (MRS).\n", + " definition of HP:0500021 (Reduced brain gamma-aminobutyric acid level by MRS)\n", + " \n", + " \n", + " Multicystic kidney dysplasia\n", + " definition of HP:0000003 (Multicystic kidney dysplasia)\n", + " \n", + " \n", + " Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional.\n", + " definition of HP:0000003 (Multicystic kidney dysplasia)\n", + " \n", + " \n", + " #Multicystic dysplastic kidney #Multicystic kidneys #Multicystic renal dysplasia\n", + " definition of HP:0000003 (Multicystic kidney dysplasia)\n", + " \n", + " \n", + " Absence of stomach bubble on fetal sonography\n", + " definition of HP:0010963 (Absence of stomach bubble on fetal sonography)\n", + " \n", + " \n", + " By the 14th week of gestation it is nearly always possible to visualized the fluid-filled fetal stomach bubble on prenatal sonography. This term refers to the absence of a normal fetal stomach bubble on fetal ultrasonography performed at around 16 to 20 weeks' gestation.\n", + " definition of HP:0010963 (Absence of stomach bubble on fetal sonography)\n", + " \n", + " \n", + " #Absence of stomach bubble on foetal sonography #Absent stomach bubble #Non-visualisation of the fetal stomach #Non-visualisation of the foetal stomach\n", + " definition of HP:0010963 (Absence of stomach bubble on fetal sonography)\n", + " \n", + " \n", + " Increased basophil count\n", + " definition of HP:0031807 (Increased basophil count)\n", + " \n", + " \n", + " An abnormally increased count of basophils per volume in the blood circulation.\n", + " definition of HP:0031807 (Increased basophil count)\n", + " \n", + " \n", + " #Basophilia\n", + " definition of HP:0031807 (Increased basophil count)\n", + " \n", + " \n", + " Penis uncircumcised\n", + " definition of HP:6000296 (Penis uncircumcised)\n", + " \n", + " \n", + " A medical history in a male of not having been circumcized.\n", + " definition of HP:6000296 (Penis uncircumcised)\n", + " \n", + " \n", + " #Foreskin present #Prepuce present\n", + " definition of HP:6000296 (Penis uncircumcised)\n", + " \n", + " \n", + " Anti-U3 RNP antibody positivity\n", + " definition of HP:0034080 (Anti-U3 RNP antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against U3 RNP.\n", + " definition of HP:0034080 (Anti-U3 RNP antibody positivity)\n", + " \n", + " \n", + " #Anti-fibrillarin antibody positivity\n", + " definition of HP:0034080 (Anti-U3 RNP antibody positivity)\n", + " \n", + " \n", + " Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells\n", + " definition of HP:0020177 (Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells)\n", + " \n", + " \n", + " An abnormal proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative.\n", + " definition of HP:0020177 (Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells)\n", + " \n", + " \n", + " #Abnormal proportion of effector memory CD8-positive, alpha-beta T cells, terminally differentiated\n", + " definition of HP:0020177 (Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells)\n", + " \n", + " \n", + " Increased variability in muscle fiber diameter\n", + " definition of HP:0003557 (Increased variability in muscle fiber diameter)\n", + " \n", + " \n", + " An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy.\n", + " definition of HP:0003557 (Increased variability in muscle fiber diameter)\n", + " \n", + " \n", + " #Increased fiber size variation #Increased fibre size variation #Increased variability in muscle fiber size #Increased variability in muscle fibre diameter #Increased variability in muscle fibre size #Increased variation in fiber size #Increased variation in fibre size #Increased variation in muscle fiber size #Increased variation in muscle fibre size #Variation in muscle fiber size #Variation in muscle fibre size\n", + " definition of HP:0003557 (Increased variability in muscle fiber diameter)\n", + " \n", + " \n", + " Increased PIVKA-II\n", + " definition of HP:0045063 (Increased PIVKA-II)\n", + " \n", + " \n", + " Des-gamma carboxyprothrombin (DCP) or pro-thrombin induced by vitamin K absence-II (PIVKA-II) is an abnormal prothrombin protein that is increased in the serum of patients with HCC. Generation of DCP is thought to be a result of an acquired defect in the post- translational carboxylation of the prothrombin precursor in malignant cells.\n", + " definition of HP:0045063 (Increased PIVKA-II)\n", + " \n", + " \n", + " #Increased prothrombin induced by vitamin K absence-II\n", + " definition of HP:0045063 (Increased PIVKA-II)\n", + " \n", + " \n", + " Elevated urinary 5-hydroxymethyluracil level\n", + " definition of HP:6000114 (Elevated urinary 5-hydroxymethyluracil level)\n", + " \n", + " \n", + " The amount of 5-hydroxymethyluracil in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000114 (Elevated urinary 5-hydroxymethyluracil level)\n", + " \n", + " \n", + " #5-hydroxymethyluracil high in urine\n", + " definition of HP:6000114 (Elevated urinary 5-hydroxymethyluracil level)\n", + " \n", + " \n", + " Orange discolored tonsils\n", + " definition of HP:0030814 (Orange discolored tonsils)\n", + " \n", + " \n", + " A phenomenon of orange colored oral tonsils. This feature is characteristic of Tangier disease and illustrated will by Figure 1 of PMID:19470903.\n", + " definition of HP:0030814 (Orange discolored tonsils)\n", + " \n", + " \n", + " #Orange colored tonsils #Orange coloured tonsils #Orange discoloured tonsils #Orange tonsils #Tonsils with orange deposits\n", + " definition of HP:0030814 (Orange discolored tonsils)\n", + " \n", + " \n", + " Redundant neck skin\n", + " definition of HP:0005989 (Redundant neck skin)\n", + " \n", + " \n", + " Excess skin around the neck, often lying in horizontal folds.\n", + " definition of HP:0005989 (Redundant neck skin)\n", + " \n", + " \n", + " #Excess neck skin #Excess skin over the neck #Excessive nuchal skin #Redundant neck skin #Redundant nuchal skin #Redundant skin folds of neck #Redundant skin over the neck\n", + " definition of HP:0005989 (Redundant neck skin)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the scapulae\n", + " definition of HP:0006713 (Aplasia/Hypoplasia of the scapulae)\n", + " \n", + " \n", + " #Absent/small shoulder blade #Absent/underdeveloped shoulder blade\n", + " definition of HP:0006713 (Aplasia/Hypoplasia of the scapulae)\n", + " \n", + " \n", + " Left atrial isomerism\n", + " definition of HP:0011537 (Left atrial isomerism)\n", + " \n", + " \n", + " In left atrial isomerism there is a bilateral small finger-shaped morphologically left atrial appendage joining the atrial chamber along a narrow front without an internal terminal crest.\n", + " definition of HP:0011537 (Left atrial isomerism)\n", + " \n", + " \n", + " Sleepy facial expression\n", + " definition of HP:0005335 (Sleepy facial expression)\n", + " \n", + " \n", + " #Sleepy facial expression #Somnolent facial expression\n", + " definition of HP:0005335 (Sleepy facial expression)\n", + " \n", + " \n", + " Humeral cortical irregularity\n", + " definition of HP:0003867 (Humeral cortical irregularity)\n", + " \n", + " \n", + " Broad distal phalanx of the hallux\n", + " definition of HP:0010077 (Broad distal phalanx of the hallux)\n", + " \n", + " \n", + " An increase in width of the distal phalanx of the big toe.\n", + " definition of HP:0010077 (Broad distal phalanx of the hallux)\n", + " \n", + " \n", + " #Broad outermost bone of big toe #Wide outermost bone of big toe\n", + " definition of HP:0010077 (Broad distal phalanx of the hallux)\n", + " \n", + " \n", + " Reduced phosphoenolpyruvate carboxykinase activity in cultured fibroblasts\n", + " definition of HP:6000619 (Reduced phosphoenolpyruvate carboxykinase activity in cultured fibroblasts)\n", + " \n", + " \n", + " Activity of phosphoenolpyruvate carboxykinase (EC 4.1.1.32) is below the lower limit of normal in cultured fibroblasts.\n", + " definition of HP:6000619 (Reduced phosphoenolpyruvate carboxykinase activity in cultured fibroblasts)\n", + " \n", + " \n", + " Decreased circulating carboxypeptidase N activity\n", + " definition of HP:6000560 (Decreased circulating carboxypeptidase N activity)\n", + " \n", + " \n", + " Activity of the enzyme Carboxypeptidase N (arginine carboxypeptidase, EC 3.4.17.3) in the blood circulation below the lower limit of normal.\n", + " definition of HP:6000560 (Decreased circulating carboxypeptidase N activity)\n", + " \n", + " \n", + " Molluscoid pseudotumors\n", + " definition of HP:0000993 (Molluscoid pseudotumors)\n", + " \n", + " \n", + " Bluish-grey, spongy nodules associated with scars over pressure points and easily traumatized areas like the elbows and knees.\n", + " definition of HP:0000993 (Molluscoid pseudotumors)\n", + " \n", + " \n", + " #Molluscoid pseudotumor\n", + " definition of HP:0000993 (Molluscoid pseudotumors)\n", + " \n", + " \n", + " Warfarin-induced skin necrosis\n", + " definition of HP:0001038 (Warfarin-induced skin necrosis)\n", + " \n", + " \n", + " Abnormality of facial soft tissue\n", + " definition of HP:0011799 (Abnormality of facial soft tissue)\n", + " \n", + " \n", + " #Abnormality of facial soft tissue #Anomaly of facial soft tissue\n", + " definition of HP:0011799 (Abnormality of facial soft tissue)\n", + " \n", + " \n", + " Pigmentary retinopathy\n", + " definition of HP:0000580 (Pigmentary retinopathy)\n", + " \n", + " \n", + " An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.\n", + " definition of HP:0000580 (Pigmentary retinopathy)\n", + " \n", + " \n", + " #Pigmentary retinal deposits #Retinal pigment clumping #Retinal pigmentary clumping #Retinal pigmentary degeneration\n", + " definition of HP:0000580 (Pigmentary retinopathy)\n", + " \n", + " \n", + " Abnormal cardiac ventricular function\n", + " definition of HP:0030872 (Abnormal cardiac ventricular function)\n", + " \n", + " \n", + " An abnormality of the cardiac ventricular function.\n", + " definition of HP:0030872 (Abnormal cardiac ventricular function)\n", + " \n", + " \n", + " Rod-cone dystrophy\n", + " definition of HP:0000510 (Rod-cone dystrophy)\n", + " \n", + " \n", + " An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.\n", + " definition of HP:0000510 (Rod-cone dystrophy)\n", + " \n", + " \n", + " #Retinitis pigmentosa #Rod cone dystrophy\n", + " definition of HP:0000510 (Rod-cone dystrophy)\n", + " \n", + " \n", + " Abnormal oral physiology\n", + " definition of HP:0031815 (Abnormal oral physiology)\n", + " \n", + " \n", + " A functional anomaly of the mouth (which is also known as the oral cavity).\n", + " definition of HP:0031815 (Abnormal oral physiology)\n", + " \n", + " \n", + " Valinuria\n", + " definition of HP:0033088 (Valinuria)\n", + " \n", + " \n", + " Urine valine level above the normal range.\n", + " definition of HP:0033088 (Valinuria)\n", + " \n", + " \n", + " #Increased valine in urine\n", + " definition of HP:0033088 (Valinuria)\n", + " \n", + " \n", + " Abnormality of the scaphoid\n", + " definition of HP:0004243 (Abnormality of the scaphoid)\n", + " \n", + " \n", + " Decreased proportion of memory T cells\n", + " definition of HP:0032183 (Decreased proportion of memory T cells)\n", + " \n", + " \n", + " An abnormally reduced proportion of memory T cells compared to the total number of T cells in the blood.\n", + " definition of HP:0032183 (Decreased proportion of memory T cells)\n", + " \n", + " \n", + " #Decreased proportion of CD4+CD29+ cells\n", + " definition of HP:0032183 (Decreased proportion of memory T cells)\n", + " \n", + " \n", + " Chorioretinal scar\n", + " definition of HP:0007777 (Chorioretinal scar)\n", + " \n", + " \n", + " Fibrous connective tissue resulting from incomplete healing of a wound (i.e., a scar) located in the choroid and retina or the eye.\n", + " definition of HP:0007777 (Chorioretinal scar)\n", + " \n", + " \n", + " Vesicoureteral reflux\n", + " definition of HP:0000076 (Vesicoureteral reflux)\n", + " \n", + " \n", + " Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes.\n", + " definition of HP:0000076 (Vesicoureteral reflux)\n", + " \n", + " \n", + " #Ureteral reflux #Ureteric reflux #Vesico-ureteral reflux #Vesicoureteric reflux\n", + " definition of HP:0000076 (Vesicoureteral reflux)\n", + " \n", + " \n", + " Osteolytic defect of the proximal toe phalanx\n", + " definition of HP:0010207 (Osteolytic defect of the proximal toe phalanx)\n", + " \n", + " \n", + " Dissolution or degeneration of bone tissue of the proximal toe phalanx.\n", + " definition of HP:0010207 (Osteolytic defect of the proximal toe phalanx)\n", + " \n", + " \n", + " #Osteolytic defects of the proximal phalanges of the toes\n", + " definition of HP:0010207 (Osteolytic defect of the proximal toe phalanx)\n", + " \n", + " \n", + " Cholesterol gallstones\n", + " definition of HP:0011980 (Cholesterol gallstones)\n", + " \n", + " \n", + " Gallstones composed primarily of cholesterol, usually about 2-3 cm in length with an oval form and a yellow or green/brown color.\n", + " definition of HP:0011980 (Cholesterol gallstones)\n", + " \n", + " \n", + " Decreased transferrin saturation\n", + " definition of HP:0012464 (Decreased transferrin saturation)\n", + " \n", + " \n", + " A below normal level of saturation of serum transferrin with iron.\n", + " definition of HP:0012464 (Decreased transferrin saturation)\n", + " \n", + " \n", + " Abnormal sperm principal piece morphology\n", + " definition of HP:0033523 (Abnormal sperm principal piece morphology)\n", + " \n", + " \n", + " A structural anomaly of the part of the sperm flagellum that is distal to the sperm midpiece and mitochondrial sheath and which leads into the end piece.\n", + " definition of HP:0033523 (Abnormal sperm principal piece morphology)\n", + " \n", + " \n", + " Cardiac sarcoma\n", + " definition of HP:0031350 (Cardiac sarcoma)\n", + " \n", + " \n", + " A malignant soft tissue neoplasm that arises from the heart.\n", + " definition of HP:0031350 (Cardiac sarcoma)\n", + " \n", + " \n", + " Global cerebellar dysplasia\n", + " definition of HP:0033744 (Global cerebellar dysplasia)\n", + " \n", + " \n", + " A type of cerebellar dysplasia that affects the entire cerebellum.\n", + " definition of HP:0033744 (Global cerebellar dysplasia)\n", + " \n", + " \n", + " Abnormal circulating carboxylic acid concentration\n", + " definition of HP:0004354 (Abnormal circulating carboxylic acid concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of a carboxylic acid in the blood circulation.\n", + " definition of HP:0004354 (Abnormal circulating carboxylic acid concentration)\n", + " \n", + " \n", + " Reduced factor XI activity\n", + " definition of HP:0001929 (Reduced factor XI activity)\n", + " \n", + " \n", + " Decreased activity of coagulation factor XI. Factor XI, also known as plasma thromboplastin antecedent, is a serine proteinase that activates factor IX.\n", + " definition of HP:0001929 (Reduced factor XI activity)\n", + " \n", + " \n", + " #Low factor XI activity\n", + " definition of HP:0001929 (Reduced factor XI activity)\n", + " \n", + " \n", + " Severely reduced left ventricular ejection fraction\n", + " definition of HP:0012666 (Severely reduced left ventricular ejection fraction)\n", + " \n", + " \n", + " A large reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at over 50 percent, and a severe reduction is defined as less than 30 percent.\n", + " definition of HP:0012666 (Severely reduced left ventricular ejection fraction)\n", + " \n", + " \n", + " #Severely reduced ejection fraction\n", + " definition of HP:0012666 (Severely reduced left ventricular ejection fraction)\n", + " \n", + " \n", + " Focal cortical dysplasia type IIIb\n", + " definition of HP:0032056 (Focal cortical dysplasia type IIIb)\n", + " \n", + " \n", + " A subtype of focal cortical dysplasia type III that is characterized by altered architectural (cortical dyslamination, hypoplasia without six-layered structure) and/or cytoarchitectural composition (hypertrophic neurons) of the neocortex, which occur adjacent to glial or glioneuronal tumor.\n", + " definition of HP:0032056 (Focal cortical dysplasia type IIIb)\n", + " \n", + " \n", + " Recurrent upper respiratory tract infections\n", + " definition of HP:0002788 (Recurrent upper respiratory tract infections)\n", + " \n", + " \n", + " An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).\n", + " definition of HP:0002788 (Recurrent upper respiratory tract infections)\n", + " \n", + " \n", + " #Frequent upper respiratory infections #Frequent upper respiratory tract infections #Recurrent colds #Recurrent upper respiratory and lower respiratory infections #Recurrent upper respiratory infection #Recurrent upper respiratory infections #Recurrent URI #Upper respiratory tract infections #Upper respiratory tract infections, recurrent\n", + " definition of HP:0002788 (Recurrent upper respiratory tract infections)\n", + " \n", + " \n", + " Preterm premature rupture of membranes\n", + " definition of HP:6000310 (Preterm premature rupture of membranes)\n", + " \n", + " \n", + " PPROM (preterm premature rupture of membranes) occurs at less than 37 weeks of gestation. PPROM can happen spontaneously, during preterm labor, or following a procedure such as amniocentesis.\n", + " definition of HP:6000310 (Preterm premature rupture of membranes)\n", + " \n", + " \n", + " #PPROM\n", + " definition of HP:6000310 (Preterm premature rupture of membranes)\n", + " \n", + " \n", + " Elevated urinary ureidoisobutyric acid level\n", + " definition of HP:6000622 (Elevated urinary ureidoisobutyric acid level)\n", + " \n", + " \n", + " The amount of ureidoisobutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal. Ureidoisobutyric acid is increased in the urine of patients with beta-ureidopropionase (EC 3.5.1.6) deficiency.\n", + " definition of HP:6000622 (Elevated urinary ureidoisobutyric acid level)\n", + " \n", + " \n", + " Uterus didelphys\n", + " definition of HP:0003762 (Uterus didelphys)\n", + " \n", + " \n", + " A malformation of the uterus in which the uterus is present as a paired organ as a result of the failure of fusion of the mullerian ducts during embryogenesis.\n", + " definition of HP:0003762 (Uterus didelphys)\n", + " \n", + " \n", + " #Didelphic uteri #Didelphic uterus #Didelphyc uterus #Doubling of uterus #Duplex uterus #Duplicated uterus #Duplication of uterus #Uterine didelphis #Uterine didelphys #Uterus didelphis #Uterus didelphus #Uterus duplex\n", + " definition of HP:0003762 (Uterus didelphys)\n", + " \n", + " \n", + " Abnormality of the endocrine system\n", + " definition of HP:0000818 (Abnormality of the endocrine system)\n", + " \n", + " \n", + " An abnormality of the endocrine system.\n", + " definition of HP:0000818 (Abnormality of the endocrine system)\n", + " \n", + " \n", + " Thoracic hemivertebrae\n", + " definition of HP:0008467 (Thoracic hemivertebrae)\n", + " \n", + " \n", + " Absence of one half of the vertebral body in the thoracic spine.\n", + " definition of HP:0008467 (Thoracic hemivertebrae)\n", + " \n", + " \n", + " Neonatal epileptic spasm\n", + " definition of HP:0032833 (Neonatal epileptic spasm)\n", + " \n", + " \n", + " A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: grimacing, head nodding, or subtle eye movements. May occur in clusters.\n", + " definition of HP:0032833 (Neonatal epileptic spasm)\n", + " \n", + " \n", + " Congenital nonbullous ichthyosiform erythroderma\n", + " definition of HP:0007479 (Congenital nonbullous ichthyosiform erythroderma)\n", + " \n", + " \n", + " The term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales.\n", + " definition of HP:0007479 (Congenital nonbullous ichthyosiform erythroderma)\n", + " \n", + " \n", + " #Collodion baby #Congenital lamellar ichthyosis #Congenital non-bullous ichthyosis #Ichthyosis lammellaris #Ichthyosis, congenital, nonblistering #Nonbullous congenital ichthyosiform erythroderma #Nonbullous congenital ichthyosis\n", + " definition of HP:0007479 (Congenital nonbullous ichthyosiform erythroderma)\n", + " \n", + " \n", + " Abnormality of anterior ethmoidal artery\n", + " definition of HP:3000031 (Abnormality of anterior ethmoidal artery)\n", + " \n", + " \n", + " An abnormality of an anterior ethmoidal artery.\n", + " definition of HP:3000031 (Abnormality of anterior ethmoidal artery)\n", + " \n", + " \n", + " Poor visual behavior for age\n", + " definition of HP:0025152 (Poor visual behavior for age)\n", + " \n", + " \n", + " Lack of visual responsiveness or decrease in visual capabilities suggesting a lack of visual responsiveness or decrease in visual capabilities in an infant or young child in which visual behavior fails to meet normal developmental milestones.\n", + " definition of HP:0025152 (Poor visual behavior for age)\n", + " \n", + " \n", + " #Abnormal visual behavior for age #Abnormal visual behaviour for age #Poor visual behavior for age\n", + " definition of HP:0025152 (Poor visual behavior for age)\n", + " \n", + " \n", + " Oval pupil\n", + " definition of HP:0025310 (Oval pupil)\n", + " \n", + " \n", + " An abnormal pupil shape that is elliptical, i.e., egg-like.\n", + " definition of HP:0025310 (Oval pupil)\n", + " \n", + " \n", + " Tracheal calcification\n", + " definition of HP:0002787 (Tracheal calcification)\n", + " \n", + " \n", + " Calcification (abnormal deposits of calcium) in the tracheal tissues.\n", + " definition of HP:0002787 (Tracheal calcification)\n", + " \n", + " \n", + " #Calcification of the trachea #Tracheal calcifications #Tracheal ectopic calcification\n", + " definition of HP:0002787 (Tracheal calcification)\n", + " \n", + " \n", + " Punctate cataract\n", + " definition of HP:0007648 (Punctate cataract)\n", + " \n", + " \n", + " A type of cataract with punctate opacities of the lens.\n", + " definition of HP:0007648 (Punctate cataract)\n", + " \n", + " \n", + " Abnormal brainstem MRI signal intensity\n", + " definition of HP:0012747 (Abnormal brainstem MRI signal intensity)\n", + " \n", + " \n", + " A deviation from normal signal on magnetic resonance imaging (MRI) of the brainstem.\n", + " definition of HP:0012747 (Abnormal brainstem MRI signal intensity)\n", + " \n", + " \n", + " Alkalosis\n", + " definition of HP:0001948 (Alkalosis)\n", + " \n", + " \n", + " Depletion of acid or accumulation base in the body fluids.\n", + " definition of HP:0001948 (Alkalosis)\n", + " \n", + " \n", + " Abnormal PR segment\n", + " definition of HP:0031596 (Abnormal PR segment)\n", + " \n", + " \n", + " An anomaly of the PR segment, which begins at the endpoint of the P wave and ends at the onset of the QRS complex. The PR segment is normally flat and isoelectric.\n", + " definition of HP:0031596 (Abnormal PR segment)\n", + " \n", + " \n", + " Low-grade vesicoureteral reflux\n", + " definition of HP:0033733 (Low-grade vesicoureteral reflux)\n", + " \n", + " \n", + " Vesicoureteral reflux without dilation of the renal calyces (Grade I-II).\n", + " definition of HP:0033733 (Low-grade vesicoureteral reflux)\n", + " \n", + " \n", + " Proximal lower limb amyotrophy\n", + " definition of HP:0008956 (Proximal lower limb amyotrophy)\n", + " \n", + " \n", + " Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh.\n", + " definition of HP:0008956 (Proximal lower limb amyotrophy)\n", + " \n", + " \n", + " #Amyotrophy involving the thigh #Amyotrophy of the thigh musculature #Proximal lower limb muscle atrophy #Thigh muscle atrophy #Wasting of thigh muscle\n", + " definition of HP:0008956 (Proximal lower limb amyotrophy)\n", + " \n", + " \n", + " Symphalangism affecting the proximal phalanx of the 4th finger\n", + " definition of HP:0009314 (Symphalangism affecting the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " Fusion of the proximal phalanx of the 4th finger with another bone.\n", + " definition of HP:0009314 (Symphalangism affecting the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " #Fused innermost bone of ring finger\n", + " definition of HP:0009314 (Symphalangism affecting the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " Abnormal uvula morphology\n", + " definition of HP:0000172 (Abnormal uvula morphology)\n", + " \n", + " \n", + " Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate.\n", + " definition of HP:0000172 (Abnormal uvula morphology)\n", + " \n", + " \n", + " #Abnormality of palatine uvula #Abnormality of the uvula\n", + " definition of HP:0000172 (Abnormal uvula morphology)\n", + " \n", + " \n", + " Vocal cord dysfunction\n", + " definition of HP:0031801 (Vocal cord dysfunction)\n", + " \n", + " \n", + " Any functional anomaly of the vocal cord.\n", + " definition of HP:0031801 (Vocal cord dysfunction)\n", + " \n", + " \n", + " Abnormality of the cardiovascular system\n", + " definition of HP:0001626 (Abnormality of the cardiovascular system)\n", + " \n", + " \n", + " Any abnormality of the cardiovascular system.\n", + " definition of HP:0001626 (Abnormality of the cardiovascular system)\n", + " \n", + " \n", + " #Abnormality of the cardiovascular system #Cardiovascular abnormality\n", + " definition of HP:0001626 (Abnormality of the cardiovascular system)\n", + " \n", + " \n", + " Renovascular hypertension\n", + " definition of HP:0100817 (Renovascular hypertension)\n", + " \n", + " \n", + " The presence of hypertension related to stenosis of the renal artery.\n", + " definition of HP:0100817 (Renovascular hypertension)\n", + " \n", + " \n", + " #Hypertension due to renal artery hyperplasia\n", + " definition of HP:0100817 (Renovascular hypertension)\n", + " \n", + " \n", + " Hypothyroidism\n", + " definition of HP:0000821 (Hypothyroidism)\n", + " \n", + " \n", + " Deficiency of thyroid hormone.\n", + " definition of HP:0000821 (Hypothyroidism)\n", + " \n", + " \n", + " #Low T4 #Underactive thyroid\n", + " definition of HP:0000821 (Hypothyroidism)\n", + " \n", + " \n", + " Curved distal phalanges of the hand\n", + " definition of HP:0009838 (Curved distal phalanges of the hand)\n", + " \n", + " \n", + " #Curved outermost finger bone of the hand\n", + " definition of HP:0009838 (Curved distal phalanges of the hand)\n", + " \n", + " \n", + " Proximal muscle weakness in upper limbs\n", + " definition of HP:0008997 (Proximal muscle weakness in upper limbs)\n", + " \n", + " \n", + " A lack of strength of the proximal muscles of the arms.\n", + " definition of HP:0008997 (Proximal muscle weakness in upper limbs)\n", + " \n", + " \n", + " Fragmentation of the epiphysis of the distal phalanx of the 3rd toe\n", + " definition of HP:0100139 (Fragmentation of the epiphysis of the distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Fragmentation of the end part of the outermost bone of the 3rd toe\n", + " definition of HP:0100139 (Fragmentation of the epiphysis of the distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Trophoblastic tumor\n", + " definition of HP:0031502 (Trophoblastic tumor)\n", + " \n", + " \n", + " A gestational or non-gestational neoplasm composed of neoplastic trophoblastic cells [NCIT:C3422].\n", + " definition of HP:0031502 (Trophoblastic tumor)\n", + " \n", + " \n", + " #Trophoblastic tumour\n", + " definition of HP:0031502 (Trophoblastic tumor)\n", + " \n", + " \n", + " Abnormal kinetic perimetry test\n", + " definition of HP:0030591 (Abnormal kinetic perimetry test)\n", + " \n", + " \n", + " Generalized opacification of the cornea\n", + " definition of HP:0011494 (Generalized opacification of the cornea)\n", + " \n", + " \n", + " Generalized reduced transparency of the stroma of the cornea.\n", + " definition of HP:0011494 (Generalized opacification of the cornea)\n", + " \n", + " \n", + " #Generalised opacification of the cornea\n", + " definition of HP:0011494 (Generalized opacification of the cornea)\n", + " \n", + " \n", + " Decreased proportion of immature gamma-delta T cells\n", + " definition of HP:0500274 (Decreased proportion of immature gamma-delta T cells)\n", + " \n", + " \n", + " Decreased proportion of immature gamma-delta T cells relative to the total number of T cells.\n", + " definition of HP:0500274 (Decreased proportion of immature gamma-delta T cells)\n", + " \n", + " \n", + " #Decreased proportion of immature gamma-delta T lymphocytes #Decreased proportion of immature gamma-delta T-cells #Decreased proportion of immature gamma-delta T-lymphocytes #Reduced proportion of immature gamma-delta T cells\n", + " definition of HP:0500274 (Decreased proportion of immature gamma-delta T cells)\n", + " \n", + " \n", + " Elevated urine L-xylulose level\n", + " definition of HP:0025742 (Elevated urine L-xylulose level)\n", + " \n", + " \n", + " The amount of L-xylulose in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:0025742 (Elevated urine L-xylulose level)\n", + " \n", + " \n", + " Partial duplication of the proximal phalanges of the hand\n", + " definition of HP:0010003 (Partial duplication of the proximal phalanges of the hand)\n", + " \n", + " \n", + " A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the proximal phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.\n", + " definition of HP:0010003 (Partial duplication of the proximal phalanges of the hand)\n", + " \n", + " \n", + " #Partial duplication of the innermost bones of the hand\n", + " definition of HP:0010003 (Partial duplication of the proximal phalanges of the hand)\n", + " \n", + " \n", + " Fractured distal epiphysis of radius\n", + " definition of HP:0041196 (Fractured distal epiphysis of radius)\n", + " \n", + " \n", + " A partial or complete breakage of the distal epiphysis of radius.\n", + " definition of HP:0041196 (Fractured distal epiphysis of radius)\n", + " \n", + " \n", + " #bone distal epiphysis of radius\n", + " definition of HP:0041196 (Fractured distal epiphysis of radius)\n", + " \n", + " \n", + " Contracture of the metatarsophalangeal joint of the 5th toe\n", + " definition of HP:0100359 (Contracture of the metatarsophalangeal joint of the 5th toe)\n", + " \n", + " \n", + " The joint between the fifth metatarsal and the proximal phalanx of the fifth toe cannot be straightened actively or passively.\n", + " definition of HP:0100359 (Contracture of the metatarsophalangeal joint of the 5th toe)\n", + " \n", + " \n", + " Anti-microfilaria antibody positivity\n", + " definition of HP:0430054 (Anti-microfilaria antibody positivity)\n", + " \n", + " \n", + " The presence of antibodies in the blood circulation that react against a component of a microfilaria (parasite).\n", + " definition of HP:0430054 (Anti-microfilaria antibody positivity)\n", + " \n", + " \n", + " Accessory cardiac bronchus\n", + " definition of HP:0033616 (Accessory cardiac bronchus)\n", + " \n", + " \n", + " Accessory bronchus originating from the medial wall of the right or left ban bronchus or bronchus intermedius. A cardiac bronchus is usually blind-ended.\n", + " definition of HP:0033616 (Accessory cardiac bronchus)\n", + " \n", + " \n", + " Arteritis\n", + " definition of HP:0012089 (Arteritis)\n", + " \n", + " \n", + " Arterial inflammation.\n", + " definition of HP:0012089 (Arteritis)\n", + " \n", + " \n", + " #Inflammation of artery\n", + " definition of HP:0012089 (Arteritis)\n", + " \n", + " \n", + " Imperfect vocal cord adduction\n", + " definition of HP:0005934 (Imperfect vocal cord adduction)\n", + " \n", + " \n", + " Pronunciation difficulties\n", + " definition of HP:5200237 (Pronunciation difficulties)\n", + " \n", + " \n", + " Limited elbow movement\n", + " definition of HP:0002996 (Limited elbow movement)\n", + " \n", + " \n", + " #Decreased elbow mobility #Limited elbow mobility #Limited elbow movement #Restricted elbow motion\n", + " definition of HP:0002996 (Limited elbow movement)\n", + " \n", + " \n", + " Dysembryoplastic neuroepithelial tumor\n", + " definition of HP:0033703 (Dysembryoplastic neuroepithelial tumor)\n", + " \n", + " \n", + " Dysembryoplastic neuroepithelial tumor (DNT) is a benign glioneuronal neoplasm that most commonly occurs in children and young adults and may present with medically intractable, chronic seizures. Lesions vary in size from 10 to 25 mm, although occasionally larger tumors of up to 70 mm have been reported. Grossly, tumors appear as well-defined, solitary nodular masses or poorly demarcated lesions. On the cut section, most tumors are cortically located and may extend into the underlying subcortical white matter in larger tumors. Multi-nodular appearance or cystic changes are commonly found\n", + " definition of HP:0033703 (Dysembryoplastic neuroepithelial tumor)\n", + " \n", + " \n", + " #DNET #DNT\n", + " definition of HP:0033703 (Dysembryoplastic neuroepithelial tumor)\n", + " \n", + " \n", + " Sudden loss of visual acuity\n", + " definition of HP:0001117 (Sudden loss of visual acuity)\n", + " \n", + " \n", + " Severe loss of visual acuity within hours or days. This is characteristic of Leber hereditary optic neuropathy.\n", + " definition of HP:0001117 (Sudden loss of visual acuity)\n", + " \n", + " \n", + " Large earlobe\n", + " definition of HP:0009748 (Large earlobe)\n", + " \n", + " \n", + " Increased volume of the earlobe, that is, abnormally prominent ear lobules.\n", + " definition of HP:0009748 (Large earlobe)\n", + " \n", + " \n", + " #Fleshy earlobe #Fleshy earlobes #Large earlobe #Prominent ear lobes #Prominent ear lobules\n", + " definition of HP:0009748 (Large earlobe)\n", + " \n", + " \n", + " Membranous vitreous appearance\n", + " definition of HP:0031153 (Membranous vitreous appearance)\n", + " \n", + " \n", + " Vitreous humor of the eye displaying consisting of a vestigial gel in the retrolental space bounded by a convoluted membrane.\n", + " definition of HP:0031153 (Membranous vitreous appearance)\n", + " \n", + " \n", + " #Membranous anomaly #Membranous vitreous #Membranous vitreous phenotype\n", + " definition of HP:0031153 (Membranous vitreous appearance)\n", + " \n", + " \n", + " Lethal short-trunk short stature\n", + " definition of HP:0011404 (Lethal short-trunk short stature)\n", + " \n", + " \n", + " A type of disproportionate short stature characterized by a short trunk but a average-sized limbs that is lethal at birth.\n", + " definition of HP:0011404 (Lethal short-trunk short stature)\n", + " \n", + " \n", + " #Lethal short-trunk dwarfism\n", + " definition of HP:0011404 (Lethal short-trunk short stature)\n", + " \n", + " \n", + " History of stillbirth\n", + " definition of HP:0032468 (History of stillbirth)\n", + " \n", + " \n", + " One or more previous pregnancies resulted in stillbirth, defined as death of a fetus in the later stages of pregnancy (definitions in the literature vary, with cut-offs ranging from 20 to 28 weeks gestation).\n", + " definition of HP:0032468 (History of stillbirth)\n", + " \n", + " \n", + " Transient decreased circulating IgG1\n", + " definition of HP:0041067 (Transient decreased circulating IgG1)\n", + " \n", + " \n", + " A temporary reduction beneath the normal level of total immunoglobulin G1 (IgG1) in the blood circulation.\n", + " definition of HP:0041067 (Transient decreased circulating IgG1)\n", + " \n", + " \n", + " #Transient decreased IgG1 in blood\n", + " definition of HP:0041067 (Transient decreased circulating IgG1)\n", + " \n", + " \n", + " Cone-shaped epiphysis of the middle phalanx of the 3rd toe\n", + " definition of HP:0100148 (Cone-shaped epiphysis of the middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Cone-shaped end part of the middle bone of the 3rd toe\n", + " definition of HP:0100148 (Cone-shaped epiphysis of the middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " Recurrent parasitic infections\n", + " definition of HP:0030885 (Recurrent parasitic infections)\n", + " \n", + " \n", + " Increased susceptibility to parasitic infections, as manifested by recurrent episodes of parasitic infection.\n", + " definition of HP:0030885 (Recurrent parasitic infections)\n", + " \n", + " \n", + " Subglottic hemangioma\n", + " definition of HP:0410264 (Subglottic hemangioma)\n", + " \n", + " \n", + " A hemangioma, a benign tumor of the vascular endothelial cells, located in the airway, typically below the vocal chords, that can cause severe obstruction of the airway.\n", + " definition of HP:0410264 (Subglottic hemangioma)\n", + " \n", + " \n", + " #Airway hemangioma\n", + " definition of HP:0410264 (Subglottic hemangioma)\n", + " \n", + " \n", + " Congenital hypertrophy of left ventricle\n", + " definition of HP:0005129 (Congenital hypertrophy of left ventricle)\n", + " \n", + " \n", + " Abnormal atrioventricular conduction\n", + " definition of HP:0005150 (Abnormal atrioventricular conduction)\n", + " \n", + " \n", + " An impairment of the electrical continuity between the atria and ventricles.\n", + " definition of HP:0005150 (Abnormal atrioventricular conduction)\n", + " \n", + " \n", + " Orthokeratotic hyperkeratosis\n", + " definition of HP:0025080 (Orthokeratotic hyperkeratosis)\n", + " \n", + " \n", + " A form of hyperkeratosis characterized by thickening of the cornified layer without retained nuclei.\n", + " definition of HP:0025080 (Orthokeratotic hyperkeratosis)\n", + " \n", + " \n", + " Partial absence of specific antibody response to tetanus vaccine\n", + " definition of HP:0410297 (Partial absence of specific antibody response to tetanus vaccine)\n", + " \n", + " \n", + " A reduced ability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination.\n", + " definition of HP:0410297 (Partial absence of specific antibody response to tetanus vaccine)\n", + " \n", + " \n", + " Abnormality of the lower urinary tract\n", + " definition of HP:0010936 (Abnormality of the lower urinary tract)\n", + " \n", + " \n", + " An abnormality of the lower urinary tract.\n", + " definition of HP:0010936 (Abnormality of the lower urinary tract)\n", + " \n", + " \n", + " Unaided visual acuity 0.4 LogMAR\n", + " definition of HP:0030539 (Unaided visual acuity 0.4 LogMAR)\n", + " \n", + " \n", + " Peripheral retinal avascularization\n", + " definition of HP:0007685 (Peripheral retinal avascularization)\n", + " \n", + " \n", + " Elevated maternal circulating alpha-fetoprotein concentration\n", + " definition of HP:0011432 (Elevated maternal circulating alpha-fetoprotein concentration)\n", + " \n", + " \n", + " Increase in the levels of maternal serum alpha-fetoprotein levels during pregnancy.\n", + " definition of HP:0011432 (Elevated maternal circulating alpha-fetoprotein concentration)\n", + " \n", + " \n", + " #Elevated maternal serum alpha-fetoprotein #High maternal circulating alpha-fetoprotein concentration #High maternal serum alpha-fetoprotein #High maternal serum alpha-fetoprotein MoM #High MSAFP MoM #Increased maternal serum alpha-fetoprotein level #MSAFP MoM>2.5\n", + " definition of HP:0011432 (Elevated maternal circulating alpha-fetoprotein concentration)\n", + " \n", + " \n", + " Urinary urgency\n", + " definition of HP:0000012 (Urinary urgency)\n", + " \n", + " \n", + " Urge incontinence is the strong, sudden need to urinate.\n", + " definition of HP:0000012 (Urinary urgency)\n", + " \n", + " \n", + " #Overactive bladder #Urinary urgency\n", + " definition of HP:0000012 (Urinary urgency)\n", + " \n", + " \n", + " Chronic acidosis\n", + " definition of HP:0012468 (Chronic acidosis)\n", + " \n", + " \n", + " Longstanding abnormal acid accumulation or depletion of base.\n", + " definition of HP:0012468 (Chronic acidosis)\n", + " \n", + " \n", + " Abnormality of the face\n", + " definition of HP:0000271 (Abnormality of the face)\n", + " \n", + " \n", + " An abnormality of the face.\n", + " definition of HP:0000271 (Abnormality of the face)\n", + " \n", + " \n", + " #Abnormal face #Abnormality of the face #Facial abnormality\n", + " definition of HP:0000271 (Abnormality of the face)\n", + " \n", + " \n", + " Increased serum serotonin\n", + " definition of HP:0003144 (Increased serum serotonin)\n", + " \n", + " \n", + " A increased concentration of serotonin in the blood.\n", + " definition of HP:0003144 (Increased serum serotonin)\n", + " \n", + " \n", + " #Increased serum serotonin\n", + " definition of HP:0003144 (Increased serum serotonin)\n", + " \n", + " \n", + " Reduced tissue neuraminidase activity\n", + " definition of HP:6000911 (Reduced tissue neuraminidase activity)\n", + " \n", + " \n", + " Activity of neuraminidase (EC 3.2.1.18)in tissues below the lower limit of normal. The activity can be measured in multiple tissues including culutured fibroblasts. Neuraminidase is also known as lysosomal sialidase.\n", + " definition of HP:6000911 (Reduced tissue neuraminidase activity)\n", + " \n", + " \n", + " Increased CSF ribose concentration\n", + " definition of HP:0410073 (Increased CSF ribose concentration)\n", + " \n", + " \n", + " The concentration of ribose in the cerebrospinal fluid is above the upper limit of normal.\n", + " definition of HP:0410073 (Increased CSF ribose concentration)\n", + " \n", + " \n", + " #Increased level of ribose in cerebrospinal fluid #Increased level of ribose in CSF\n", + " definition of HP:0410073 (Increased CSF ribose concentration)\n", + " \n", + " \n", + " Decreased maximal oxygen uptake\n", + " definition of HP:0033760 (Decreased maximal oxygen uptake)\n", + " \n", + " \n", + " Maximum oxygen uptake (VO2max) is defined as the highest rate of oxygen uptake and utilization by the body during intense, maximal exercise, whereby further increases in work rate do not bring on additional rises in VO2 (i.e. plateau). VO2Max is typically measured with a treadmill and ergometer and the participant exercises with increasing levels of intensity. VO2Max is the point at which oxygen uptake no longer increases despite an increase in workload.\n", + " definition of HP:0033760 (Decreased maximal oxygen uptake)\n", + " \n", + " \n", + " Long coccyx\n", + " definition of HP:0002831 (Long coccyx)\n", + " \n", + " \n", + " #Long tailbone\n", + " definition of HP:0002831 (Long coccyx)\n", + " \n", + " \n", + " Widely spaced toes\n", + " definition of HP:0008094 (Widely spaced toes)\n", + " \n", + " \n", + " An overall widening of the spaces between the digits.\n", + " definition of HP:0008094 (Widely spaced toes)\n", + " \n", + " \n", + " #Widely spaced toes\n", + " definition of HP:0008094 (Widely spaced toes)\n", + " \n", + " \n", + " Gastritis\n", + " definition of HP:0005263 (Gastritis)\n", + " \n", + " \n", + " The presence of inflammation of the gastric mucous membrane.\n", + " definition of HP:0005263 (Gastritis)\n", + " \n", + " \n", + " #Stomach inflammation\n", + " definition of HP:0005263 (Gastritis)\n", + " \n", + " \n", + " Focal impaired awareness cognitive seizure with dyslexia/alexia\n", + " definition of HP:0032870 (Focal impaired awareness cognitive seizure with dyslexia/alexia)\n", + " \n", + " \n", + " A focal cognitive seizure with dyslexia / alexia characterized by impairment of awareness at some point during the seizure.\n", + " definition of HP:0032870 (Focal impaired awareness cognitive seizure with dyslexia/alexia)\n", + " \n", + " \n", + " Hemivertebrae\n", + " definition of HP:0002937 (Hemivertebrae)\n", + " \n", + " \n", + " Absence of one half of the vertebral body.\n", + " definition of HP:0002937 (Hemivertebrae)\n", + " \n", + " \n", + " #Hemi-vertebrae #Hemivertebra #Missing part of vertebrae\n", + " definition of HP:0002937 (Hemivertebrae)\n", + " \n", + " \n", + " Pituitary thyrotropic cell adenoma\n", + " definition of HP:0011762 (Pituitary thyrotropic cell adenoma)\n", + " \n", + " \n", + " A type of pituitary adenoma that produces thyroid stimulating hormone (TSH).\n", + " definition of HP:0011762 (Pituitary thyrotropic cell adenoma)\n", + " \n", + " \n", + " #Pituitary thyrotropinoma\n", + " definition of HP:0011762 (Pituitary thyrotropic cell adenoma)\n", + " \n", + " \n", + " Bronchogenic cyst\n", + " definition of HP:0100730 (Bronchogenic cyst)\n", + " \n", + " \n", + " A rare congenital cystic lesion of the lungs in the mediastinum.\n", + " definition of HP:0100730 (Bronchogenic cyst)\n", + " \n", + " \n", + " Hypoplasia of the vestibular nerve\n", + " definition of HP:0011394 (Hypoplasia of the vestibular nerve)\n", + " \n", + " \n", + " Underdevelopment of the vestibular nerve.\n", + " definition of HP:0011394 (Hypoplasia of the vestibular nerve)\n", + " \n", + " \n", + " #Hypoplasia of the eighth cranial nerve #Thin vestibular nerve\n", + " definition of HP:0011394 (Hypoplasia of the vestibular nerve)\n", + " \n", + " \n", + " Positive blood lead test\n", + " definition of HP:0410399 (Positive blood lead test)\n", + " \n", + " \n", + " Detection of lead in the blood.\n", + " definition of HP:0410399 (Positive blood lead test)\n", + " \n", + " \n", + " #Increased blood lead level\n", + " definition of HP:0410399 (Positive blood lead test)\n", + " \n", + " \n", + " Adenocarcinoma of the colon\n", + " definition of HP:0040276 (Adenocarcinoma of the colon)\n", + " \n", + " \n", + " Recurrent infections\n", + " definition of HP:0002719 (Recurrent infections)\n", + " \n", + " \n", + " Increased susceptibility to infections.\n", + " definition of HP:0002719 (Recurrent infections)\n", + " \n", + " \n", + " #Frequent infections #Frequent, severe infections #Increased frequency of infection #infections, recurrent #Predisposition to infections #Recurrent infections #Susceptibility to infection\n", + " definition of HP:0002719 (Recurrent infections)\n", + " \n", + " \n", + " Exacerbated by acetylcholinesterase inhibitor exposure\n", + " definition of HP:0032525 (Exacerbated by acetylcholinesterase inhibitor exposure)\n", + " \n", + " \n", + " Applied to a sign or symptom that is worsened by treatment with an acetylcholinesterase inhibitor such as tensilon (edrophonium) or pyridostigmine (Mestinon).\n", + " definition of HP:0032525 (Exacerbated by acetylcholinesterase inhibitor exposure)\n", + " \n", + " \n", + " Abnormality of upper lip vermillion\n", + " definition of HP:0011339 (Abnormality of upper lip vermillion)\n", + " \n", + " \n", + " An abnormality of the vermilion border, the sharp demarcation between the lip (red colored) and the adjacent normal skin.\n", + " definition of HP:0011339 (Abnormality of upper lip vermillion)\n", + " \n", + " \n", + " Abnormality of urine catecholamine level\n", + " definition of HP:0011281 (Abnormality of urine catecholamine level)\n", + " \n", + " \n", + " An abnormal amount of urinary catecholamine concentration.\n", + " definition of HP:0011281 (Abnormality of urine catecholamine level)\n", + " \n", + " \n", + " Decreased immunoglobulin level in body fluid\n", + " definition of HP:0041078 (Decreased immunoglobulin level in body fluid)\n", + " \n", + " \n", + " An reduction from normal levels of immunoglobulins in body fluids, such as mucous.\n", + " definition of HP:0041078 (Decreased immunoglobulin level in body fluid)\n", + " \n", + " \n", + " Focal impaired awareness seizure with dissociation at onset\n", + " definition of HP:0032879 (Focal impaired awareness seizure with dissociation at onset)\n", + " \n", + " \n", + " A focal cognitive epileptic seizure with dissociation at the onset of the seizure and with impairment of awareness at at some point during the seizure.\n", + " definition of HP:0032879 (Focal impaired awareness seizure with dissociation at onset)\n", + " \n", + " \n", + " Anterior wedging of L2\n", + " definition of HP:0011941 (Anterior wedging of L2)\n", + " \n", + " \n", + " An abnormality of the shape of the lumbar vertebra L2 such that it is wedge-shaped (narrow towards the front).\n", + " definition of HP:0011941 (Anterior wedging of L2)\n", + " \n", + " \n", + " Transient decreased circulating IgG4\n", + " definition of HP:0041057 (Transient decreased circulating IgG4)\n", + " \n", + " \n", + " A temporary reduction beneath the normal level of total immunoglobulin G4 (IgG4) in the blood circulation.\n", + " definition of HP:0041057 (Transient decreased circulating IgG4)\n", + " \n", + " \n", + " #Transient decreased IgG4 in blood\n", + " definition of HP:0041057 (Transient decreased circulating IgG4)\n", + " \n", + " \n", + " Increased circulating globulin level\n", + " definition of HP:0032311 (Increased circulating globulin level)\n", + " \n", + " \n", + " An abnormally elevated concentration of globulins in the blood.\n", + " definition of HP:0032311 (Increased circulating globulin level)\n", + " \n", + " \n", + " Abnormality of the protein C anticoagulant pathway\n", + " definition of HP:0030780 (Abnormality of the protein C anticoagulant pathway)\n", + " \n", + " \n", + " An anomaly of the protein C anticoagulant pathway, which serves as a major system for controlling thrombosis, limiting inflammatory responses, and potentially decreasing endothelial cell apoptosis in response to inflammatory cytokines and ischemia. A natural anticoagulant system denoted the protein C pathway exerts its anticoagulant effect by regulating the activity of FVIIIa and FVa. The vitamin K-dependent protein C is the key component of the pathway. Activated protein C (APC) cleaves and inhibits coagulation cofactors FVIIIa and FVa, which result in downregulation of the activity of the coagulation system. The endothelial protein C receptor stimulates the T-TM-mediated activation of protein C on the endothelial cell surface. The two cofactors, protein S and the intact form of FV, enhance the anticoagulant activity of APC.\n", + " definition of HP:0030780 (Abnormality of the protein C anticoagulant pathway)\n", + " \n", + " \n", + " Perseverative thought\n", + " definition of HP:0030223 (Perseverative thought)\n", + " \n", + " \n", + " The repetitive production of the same response to different commands.\n", + " definition of HP:0030223 (Perseverative thought)\n", + " \n", + " \n", + " #Perseveration #Perseverative behavior #Perseverative behaviour\n", + " definition of HP:0030223 (Perseverative thought)\n", + " \n", + " \n", + " Central primitive neuroectodermal tumor\n", + " definition of HP:0030070 (Central primitive neuroectodermal tumor)\n", + " \n", + " \n", + " A primitive neuroectodermal neoplasm that occurs in the central nervous system.\n", + " definition of HP:0030070 (Central primitive neuroectodermal tumor)\n", + " \n", + " \n", + " #Central primitive neuroectodermal tumour\n", + " definition of HP:0030070 (Central primitive neuroectodermal tumor)\n", + " \n", + " \n", + " Decreased mobility 3rd-5th fingers\n", + " definition of HP:0006169 (Decreased mobility 3rd-5th fingers)\n", + " \n", + " \n", + " #Decreased mobility 3rd-5th fingers\n", + " definition of HP:0006169 (Decreased mobility 3rd-5th fingers)\n", + " \n", + " \n", + " Reduced consciousness\n", + " definition of HP:0004372 (Reduced consciousness)\n", + " \n", + " \n", + " Abnormally diminished level of attention, responsiveness, or wakefulness.\n", + " definition of HP:0004372 (Reduced consciousness)\n", + " \n", + " \n", + " #Disturbances of consciousness #Lowered consciousness #Reduced consciousness/confusion\n", + " definition of HP:0004372 (Reduced consciousness)\n", + " \n", + " \n", + " Chordee\n", + " definition of HP:0000041 (Chordee)\n", + " \n", + " \n", + " Ventral, lateral, or ventrolateral bowing of the shaft and glans penis of more than 30 degrees.\n", + " definition of HP:0000041 (Chordee)\n", + " \n", + " \n", + " Nevus of Ota\n", + " definition of HP:0009920 (Nevus of Ota)\n", + " \n", + " \n", + " A dermal melanocytic hamartoma that presents as bluish hyperpigmentation on the face along the first or second branches of the trigeminal nerve. Nevus of Ota may involve the sclera.\n", + " definition of HP:0009920 (Nevus of Ota)\n", + " \n", + " \n", + " #Congenital melanosis bulbi #Mongolian spot #Naevus fuscoceruleus ophthalmomaxillaris #Nevus fuscoceruleus ophthalmomaxillaris #Nevus of Ito #Oculodermal melanocytosis\n", + " definition of HP:0009920 (Nevus of Ota)\n", + " \n", + " \n", + " Obsessive-compulsive trait\n", + " definition of HP:0008770 (Obsessive-compulsive trait)\n", + " \n", + " \n", + " The presence of one or more obsessive-compulsive personality traits. Obsessions refer to persistent intrusive thoughts, and compulsions to intrusive behaviors, which the affected person experiences as involuntary, senseless, or repugnant.\n", + " definition of HP:0008770 (Obsessive-compulsive trait)\n", + " \n", + " \n", + " #Obsessive-compulsive trait #Obsessive-compulsive traits\n", + " definition of HP:0008770 (Obsessive-compulsive trait)\n", + " \n", + " \n", + " Complete duplication of the proximal phalanx of the 4th toe\n", + " definition of HP:0100414 (Complete duplication of the proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " #Complete duplication of the innermost 4th toe bone\n", + " definition of HP:0100414 (Complete duplication of the proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " Aplasia of the 3rd metacarpal\n", + " definition of HP:0010040 (Aplasia of the 3rd metacarpal)\n", + " \n", + " \n", + " Absence of the third long bone of the hand.\n", + " definition of HP:0010040 (Aplasia of the 3rd metacarpal)\n", + " \n", + " \n", + " #Absent 3rd long bone of hand\n", + " definition of HP:0010040 (Aplasia of the 3rd metacarpal)\n", + " \n", + " \n", + " Excessive diet restriction\n", + " definition of HP:6001072 (Excessive diet restriction)\n", + " \n", + " \n", + " A tendency to reject a variety of foods and/or to eat a restricted range of foods.\n", + " definition of HP:6001072 (Excessive diet restriction)\n", + " \n", + " \n", + " Alveolar septal thickening\n", + " definition of HP:0033376 (Alveolar septal thickening)\n", + " \n", + " \n", + " Increased width of the alveolar septum, which is the structure that separates neighboring alveoli. This finding can be appreciated on histology.\n", + " definition of HP:0033376 (Alveolar septal thickening)\n", + " \n", + " \n", + " Thickening of glomerular capillary wall\n", + " definition of HP:0025005 (Thickening of glomerular capillary wall)\n", + " \n", + " \n", + " Widening of the wall of capillary blood vessels in the glomerulus. This feature may be produced by deposits and other changes affecting either subepithelial and subendothelial regions or the glomerular basement membrane itself.\n", + " definition of HP:0025005 (Thickening of glomerular capillary wall)\n", + " \n", + " \n", + " True anophthalmia\n", + " definition of HP:0011478 (True anophthalmia)\n", + " \n", + " \n", + " Absence of globe, optic nerve, chiasm and optic tracts. No evidence of ocular tissue on MRI scan or examination.\n", + " definition of HP:0011478 (True anophthalmia)\n", + " \n", + " \n", + " #Complete anophthalmia #Completely missing eyeball #Total anophthalmia\n", + " definition of HP:0011478 (True anophthalmia)\n", + " \n", + " \n", + " Difficulty passing nasogastric tube\n", + " definition of HP:6000294 (Difficulty passing nasogastric tube)\n", + " \n", + " \n", + " Difficulty inserting a nasogastric tube (NGT), a flexible plastic tube that is placed through the nose and esophagus into the stomach and used to administer drugs or for feeding. There are certain circumstances that may make NGT insertion difficult. They are esophageal narrowing, comatose or intubated patients, and patients who have sustained severe facial or skull injuries.\n", + " definition of HP:6000294 (Difficulty passing nasogastric tube)\n", + " \n", + " \n", + " Exotropia\n", + " definition of HP:0000577 (Exotropia)\n", + " \n", + " \n", + " A form of strabismus with one or both eyes deviated outward.\n", + " definition of HP:0000577 (Exotropia)\n", + " \n", + " \n", + " #Outward facing eye ball\n", + " definition of HP:0000577 (Exotropia)\n", + " \n", + " \n", + " Gastrointestinal dysmotility\n", + " definition of HP:0002579 (Gastrointestinal dysmotility)\n", + " \n", + " \n", + " Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes.\n", + " definition of HP:0002579 (Gastrointestinal dysmotility)\n", + " \n", + " \n", + " #GI dysmotility\n", + " definition of HP:0002579 (Gastrointestinal dysmotility)\n", + " \n", + " \n", + " Oligozoospermia\n", + " definition of HP:0000798 (Oligozoospermia)\n", + " \n", + " \n", + " Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen.\n", + " definition of HP:0000798 (Oligozoospermia)\n", + " \n", + " \n", + " #Low sperm count #Oligospermia\n", + " definition of HP:0000798 (Oligozoospermia)\n", + " \n", + " \n", + " Reduced antithrombin antigen\n", + " definition of HP:0040246 (Reduced antithrombin antigen)\n", + " \n", + " \n", + " Reduced antithrombin antigen. A reduced level of antithrombin may lead to an increased risk of thrombus formation.\n", + " definition of HP:0040246 (Reduced antithrombin antigen)\n", + " \n", + " \n", + " External tibial torsion\n", + " definition of HP:0034373 (External tibial torsion)\n", + " \n", + " \n", + " External twisting of the tibia resulting in the toes of each foot pointing outward (outtoeing) .\n", + " definition of HP:0034373 (External tibial torsion)\n", + " \n", + " \n", + " #External tibial rotation\n", + " definition of HP:0034373 (External tibial torsion)\n", + " \n", + " \n", + " Monkey wrench femoral neck\n", + " definition of HP:0033102 (Monkey wrench femoral neck)\n", + " \n", + " \n", + " The femoral neck region shows medial metaphyseal beaking and a significant enlargement of the lesser trochanter (with some enlargement also of the greater trochanter), producing a monkey wrench (Swedish key) configuration of the proximal femur. A monkey wrench refers to a type of adjustable wrench with one fixed and one adjustable jaw at right angles to a straight handle.\n", + " definition of HP:0033102 (Monkey wrench femoral neck)\n", + " \n", + " \n", + " #Monkey wrench appearance of femoral neck #Monkey wrench configuration of the proximal femur #Swedish key appearance of femoral neck #Swedish key configuration of the proximal femur\n", + " definition of HP:0033102 (Monkey wrench femoral neck)\n", + " \n", + " \n", + " Frontal lobe dementia\n", + " definition of HP:0000727 (Frontal lobe dementia)\n", + " \n", + " \n", + " Segmental glomerulosclerosis\n", + " definition of HP:0033495 (Segmental glomerulosclerosis)\n", + " \n", + " \n", + " Segmental solidification of the glomerular tuft by increased extracellular matrix, causing glomerular capillary obliteration and can include hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells, podocyte depletion, halo and adhesion of the tuft to the Bowman capsule.\n", + " definition of HP:0033495 (Segmental glomerulosclerosis)\n", + " \n", + " \n", + " Requires heterozygosity\n", + " definition of HP:0034343 (Requires heterozygosity)\n", + " \n", + " \n", + " A rarely encountered phenomenon in which condition is most severe in the heterozygous state. Such disorders are rare and currently all are X-linked. Most X-linked recessive conditions manifest if hemizygous in males, or biallelic in females, though may have a mild phenotype in the heterozygous state in females.\n", + " definition of HP:0034343 (Requires heterozygosity)\n", + " \n", + " \n", + " Brachioradialis areflexia\n", + " definition of HP:0033229 (Brachioradialis areflexia)\n", + " \n", + " \n", + " Inability to elicit brachioradialis tendon reflex.\n", + " definition of HP:0033229 (Brachioradialis areflexia)\n", + " \n", + " \n", + " #Areflexia of brachioradialis\n", + " definition of HP:0033229 (Brachioradialis areflexia)\n", + " \n", + " \n", + " Severe muscular hypotonia\n", + " definition of HP:0006829 (Severe muscular hypotonia)\n", + " \n", + " \n", + " A severe degree of muscular hypotonia characterized by markedly reduced muscle tone.\n", + " definition of HP:0006829 (Severe muscular hypotonia)\n", + " \n", + " \n", + " #Hypotonia, severe #Severely decreased muscle tone\n", + " definition of HP:0006829 (Severe muscular hypotonia)\n", + " \n", + " \n", + " Abnormal speech volume\n", + " definition of HP:5200043 (Abnormal speech volume)\n", + " \n", + " \n", + " Speech that is abnormally loud or quiet for the social and cultural context in which it is spoken. It is clinically noted by others, including family, friends, or clinical providers.\n", + " definition of HP:5200043 (Abnormal speech volume)\n", + " \n", + " \n", + " Vasculitis\n", + " definition of HP:0002633 (Vasculitis)\n", + " \n", + " \n", + " Inflammation of blood vessel.\n", + " definition of HP:0002633 (Vasculitis)\n", + " \n", + " \n", + " #Angiitis #Inflammation of blood vessel\n", + " definition of HP:0002633 (Vasculitis)\n", + " \n", + " \n", + " Agoraphobia\n", + " definition of HP:0000756 (Agoraphobia)\n", + " \n", + " \n", + " A type of anxiety disorder characterized by the avoidance of public places, especially where crowds gather.\n", + " definition of HP:0000756 (Agoraphobia)\n", + " \n", + " \n", + " #Fear of open spaces\n", + " definition of HP:0000756 (Agoraphobia)\n", + " \n", + " \n", + " Increased OCT-measured macular thickness\n", + " definition of HP:0030608 (Increased OCT-measured macular thickness)\n", + " \n", + " \n", + " Abnormal distal phalanx morphology of finger\n", + " definition of HP:0009832 (Abnormal distal phalanx morphology of finger)\n", + " \n", + " \n", + " Any anomaly of distal phalanx of finger.\n", + " definition of HP:0009832 (Abnormal distal phalanx morphology of finger)\n", + " \n", + " \n", + " #Abnormal terminal phalanges of the hand #Abnormality of the distal phalanges of the hand #Abnormality of the distal phalanx of finger #Abnormality of the outermost finger bone\n", + " definition of HP:0009832 (Abnormal distal phalanx morphology of finger)\n", + " \n", + " \n", + " Fibrous dysplasia of the bones\n", + " definition of HP:0010734 (Fibrous dysplasia of the bones)\n", + " \n", + " \n", + " Tumor-like growths that consist of replacement of the medullary bone with fibrous tissue, causing the expansion and weakening of the areas of bone involved. Especially when involving the skull or facial bones, the lesions can cause externally visible deformities. The skull is often, but not necessarily, affected, and any other bone or bones may be involved. Fibrous dysplasia can either effect isolated bones (Monostotic fibrous dysplasia) or also generalized all bones of the body (Polyostotic fibrous dysplasia).\n", + " definition of HP:0010734 (Fibrous dysplasia of the bones)\n", + " \n", + " \n", + " Anti-SUMO-activating enzyme subunit 2 antibody positivity\n", + " definition of HP:0034141 (Anti-SUMO-activating enzyme subunit 2 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against SAE 2.\n", + " definition of HP:0034141 (Anti-SUMO-activating enzyme subunit 2 antibody positivity)\n", + " \n", + " \n", + " #Anti-SAE 2 antibody positivity\n", + " definition of HP:0034141 (Anti-SUMO-activating enzyme subunit 2 antibody positivity)\n", + " \n", + " \n", + " Decreased complex N-glycan level\n", + " definition of HP:0410353 (Decreased complex N-glycan level)\n", + " \n", + " \n", + " An abnormal decrease in the concentration of complex N-glycans on glycoproteins.\n", + " definition of HP:0410353 (Decreased complex N-glycan level)\n", + " \n", + " \n", + " #Increased truncated complex N-glycans on glycoproteins\n", + " definition of HP:0410353 (Decreased complex N-glycan level)\n", + " \n", + " \n", + " Abnormality of lingual tonsil\n", + " definition of HP:3000076 (Abnormality of lingual tonsil)\n", + " \n", + " \n", + " An abnormality of a lingual tonsil.\n", + " definition of HP:3000076 (Abnormality of lingual tonsil)\n", + " \n", + " \n", + " Melanonychia\n", + " definition of HP:0100644 (Melanonychia)\n", + " \n", + " \n", + " Brown or black discoloration of the nails.\n", + " definition of HP:0100644 (Melanonychia)\n", + " \n", + " \n", + " Motor conduction block\n", + " definition of HP:0012078 (Motor conduction block)\n", + " \n", + " \n", + " Blockade of impulses at a focal site along the course of a motor axon.\n", + " definition of HP:0012078 (Motor conduction block)\n", + " \n", + " \n", + " Tardive dyskinesia\n", + " definition of HP:0040141 (Tardive dyskinesia)\n", + " \n", + " \n", + " Delayed myelination\n", + " definition of HP:0012448 (Delayed myelination)\n", + " \n", + " \n", + " Delayed myelination.\n", + " definition of HP:0012448 (Delayed myelination)\n", + " \n", + " \n", + " Contracture of the distal interphalangeal joint of the 4th toe\n", + " definition of HP:0100354 (Contracture of the distal interphalangeal joint of the 4th toe)\n", + " \n", + " \n", + " The distal interphalangeal joint of the 4th toe cannot be straightened actively or passively.\n", + " definition of HP:0100354 (Contracture of the distal interphalangeal joint of the 4th toe)\n", + " \n", + " \n", + " Abnormal platelet alpha granule secretion\n", + " definition of HP:0030399 (Abnormal platelet alpha granule secretion)\n", + " \n", + " \n", + " Abnormal release of alpha granule contents from platelets.\n", + " definition of HP:0030399 (Abnormal platelet alpha granule secretion)\n", + " \n", + " \n", + " Abnormal negative emotional state\n", + " definition of HP:0031467 (Abnormal negative emotional state)\n", + " \n", + " \n", + " An aversive emotional state characterized by negative emotional experiences, preoccupations, or internal states that are often related to negative perceptions of the self, the world, or the future.\n", + " definition of HP:0031467 (Abnormal negative emotional state)\n", + " \n", + " \n", + " #Negative affect #Neuroticism\n", + " definition of HP:0031467 (Abnormal negative emotional state)\n", + " \n", + " \n", + " Map-dot-fingerprint corneal dystrophy\n", + " definition of HP:0007690 (Map-dot-fingerprint corneal dystrophy)\n", + " \n", + " \n", + " Branchial cyst\n", + " definition of HP:0009796 (Branchial cyst)\n", + " \n", + " \n", + " A branchial cyst is a remnant of embryonic development resulting from a failure of obliteration of a branchial cleft and consists of a subcutaneous cystic mass. Cysts are located anterior or posterior to the ear or in the submandibular region.\n", + " definition of HP:0009796 (Branchial cyst)\n", + " \n", + " \n", + " #Branchial cysts\n", + " definition of HP:0009796 (Branchial cyst)\n", + " \n", + " \n", + " Abnormal uterus morphology\n", + " definition of HP:0031105 (Abnormal uterus morphology)\n", + " \n", + " \n", + " Any anomaly of the structure of the uterus\n", + " definition of HP:0031105 (Abnormal uterus morphology)\n", + " \n", + " \n", + " Abnormal muscle fiber dystrophin expression\n", + " definition of HP:0030096 (Abnormal muscle fiber dystrophin expression)\n", + " \n", + " \n", + " A deviation from normal in the amount of dystrophin in muscle fiber tissue. Dystrophin is located at the muscle sarcolemma in a membrane-spanning protein complex that connects the cytoskeleton to the basal lamina.\n", + " definition of HP:0030096 (Abnormal muscle fiber dystrophin expression)\n", + " \n", + " \n", + " #Abnormal muscle fibre dystrophin expression\n", + " definition of HP:0030096 (Abnormal muscle fiber dystrophin expression)\n", + " \n", + " \n", + " Impaired renal tubular reabsorption of magnesium\n", + " definition of HP:0033759 (Impaired renal tubular reabsorption of magnesium)\n", + " \n", + " \n", + " Decreased renal tubular reabsorption of magnesium.\n", + " definition of HP:0033759 (Impaired renal tubular reabsorption of magnesium)\n", + " \n", + " \n", + " Urethral obstruction\n", + " definition of HP:0000796 (Urethral obstruction)\n", + " \n", + " \n", + " Obstruction of the flow of urine through the urethra.\n", + " definition of HP:0000796 (Urethral obstruction)\n", + " \n", + " \n", + " Pseudoepiphysis of the distal phalanx of the 2nd finger\n", + " definition of HP:0009509 (Pseudoepiphysis of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " A secondary ossification center in the distal phalanx of the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.\n", + " definition of HP:0009509 (Pseudoepiphysis of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Episodic ketoacidosis\n", + " definition of HP:0005974 (Episodic ketoacidosis)\n", + " \n", + " \n", + " Intermittent episodes of ketoacidosis.\n", + " definition of HP:0005974 (Episodic ketoacidosis)\n", + " \n", + " \n", + " #Ketoacidosis, episodic\n", + " definition of HP:0005974 (Episodic ketoacidosis)\n", + " \n", + " \n", + " Decreased left ventricular end-diastolic volume\n", + " definition of HP:0033756 (Decreased left ventricular end-diastolic volume)\n", + " \n", + " \n", + " Abnormally low volume of blood in the left ventricle at the end of diastole (just before systole).\n", + " definition of HP:0033756 (Decreased left ventricular end-diastolic volume)\n", + " \n", + " \n", + " Umbilical cord cyst\n", + " definition of HP:0030654 (Umbilical cord cyst)\n", + " \n", + " \n", + " Any cystic lesion associated with the umbilical cord.\n", + " definition of HP:0030654 (Umbilical cord cyst)\n", + " \n", + " \n", + " Stippled calcification in carpal bones\n", + " definition of HP:0004241 (Stippled calcification in carpal bones)\n", + " \n", + " \n", + " Point-shaped (punctate) calcifications affecting the carpal bones.\n", + " definition of HP:0004241 (Stippled calcification in carpal bones)\n", + " \n", + " \n", + " #Punctate calcifications of carpals\n", + " definition of HP:0004241 (Stippled calcification in carpal bones)\n", + " \n", + " \n", + " Torn meniscus\n", + " definition of HP:0032191 (Torn meniscus)\n", + " \n", + " \n", + " A tear in the cartilaginous pad (meniscus) of the knee.\n", + " definition of HP:0032191 (Torn meniscus)\n", + " \n", + " \n", + " Vomiting\n", + " definition of HP:0002013 (Vomiting)\n", + " \n", + " \n", + " Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.\n", + " definition of HP:0002013 (Vomiting)\n", + " \n", + " \n", + " #Emesis #Throwing up #Vomiting\n", + " definition of HP:0002013 (Vomiting)\n", + " \n", + " \n", + " Sclerosis of 2nd toe phalanx\n", + " definition of HP:0100926 (Sclerosis of 2nd toe phalanx)\n", + " \n", + " \n", + " An elevation in bone density in one or more phalanges of the second toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.\n", + " definition of HP:0100926 (Sclerosis of 2nd toe phalanx)\n", + " \n", + " \n", + " #Increased bone density in 2nd toe bone #Sclerosis of the phalanges of the 2nd toe\n", + " definition of HP:0100926 (Sclerosis of 2nd toe phalanx)\n", + " \n", + " \n", + " Hypouricemia\n", + " definition of HP:0003537 (Hypouricemia)\n", + " \n", + " \n", + " An abnormally low level of uric acid in the blood.\n", + " definition of HP:0003537 (Hypouricemia)\n", + " \n", + " \n", + " #Low blood uric acid levels\n", + " definition of HP:0003537 (Hypouricemia)\n", + " \n", + " \n", + " Hypodontia\n", + " definition of HP:0000668 (Hypodontia)\n", + " \n", + " \n", + " The absence of five or less teeth from the normal series by a failure to develop.\n", + " definition of HP:0000668 (Hypodontia)\n", + " \n", + " \n", + " #Failure of development of between one and six teeth\n", + " definition of HP:0000668 (Hypodontia)\n", + " \n", + " \n", + " Abnormality of the epiphysis of the proximal phalanx of the 5th finger\n", + " definition of HP:0009153 (Abnormality of the epiphysis of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " Abnormality of the epiphysis of the proximal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx.\n", + " definition of HP:0009153 (Abnormality of the epiphysis of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " #Abnormality of end part of the innermost bone of little finger #Abnormality of end part of the innermost bone of pinkie finger #Abnormality of end part of the innermost bone of pinky finger\n", + " definition of HP:0009153 (Abnormality of the epiphysis of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the lungs\n", + " definition of HP:0006703 (Aplasia/Hypoplasia of the lungs)\n", + " \n", + " \n", + " #Absent/small lungs #Absent/underdeveloped lungs\n", + " definition of HP:0006703 (Aplasia/Hypoplasia of the lungs)\n", + " \n", + " \n", + " Abnormal quality of facial expression\n", + " definition of HP:4000089 (Abnormal quality of facial expression)\n", + " \n", + " \n", + " Spontaneous production of communicative facial expressions that have poor quality or are exaggerated or muted.\n", + " definition of HP:4000089 (Abnormal quality of facial expression)\n", + " \n", + " \n", + " #Atypical facial expressions\n", + " definition of HP:4000089 (Abnormal quality of facial expression)\n", + " \n", + " \n", + " Prolonged\n", + " definition of HP:0025297 (Prolonged)\n", + " \n", + " \n", + " Applied to an abnormality whose duration is extended over a longer period of time than is expected or usual (e.g., prolonged fever lasts longer than one usually sees with an infection).\n", + " definition of HP:0025297 (Prolonged)\n", + " \n", + " \n", + " Homocitrullinuria\n", + " definition of HP:0034464 (Homocitrullinuria)\n", + " \n", + " \n", + " An increased amount of L-homocitrulline in the urine. L-homocitrulline is an L-lysine derivative that is L-lysine having a carbamoyl group at the N(6)-position. It is found in individuals with urea cycle disorders.\n", + " definition of HP:0034464 (Homocitrullinuria)\n", + " \n", + " \n", + " #Homocitrulline present in urine\n", + " definition of HP:0034464 (Homocitrullinuria)\n", + " \n", + " \n", + " Exacerbated by exposure to sunlight\n", + " definition of HP:6001075 (Exacerbated by exposure to sunlight)\n", + " \n", + " \n", + " Applied to a sign or symptom that is worsened by exposure to sunlight.\n", + " definition of HP:6001075 (Exacerbated by exposure to sunlight)\n", + " \n", + " \n", + " #Aggravated by ultraviolet radiation exposure\n", + " definition of HP:6001075 (Exacerbated by exposure to sunlight)\n", + " \n", + " \n", + " Club-shaped distal femur\n", + " definition of HP:0006384 (Club-shaped distal femur)\n", + " \n", + " \n", + " An abnormal conformation of the femur that becomes gradually enlarged towards the distal end. This feature affects the distal femoral metaphysis and epiphysis.\n", + " definition of HP:0006384 (Club-shaped distal femur)\n", + " \n", + " \n", + " #Club-shaped distal femora #Club-shaped outermost end of thighbone\n", + " definition of HP:0006384 (Club-shaped distal femur)\n", + " \n", + " \n", + " Sclerosis of the 1st metatarsal\n", + " definition of HP:0100945 (Sclerosis of the 1st metatarsal)\n", + " \n", + " \n", + " #Increased bone density in the 1st long bone of foot\n", + " definition of HP:0100945 (Sclerosis of the 1st metatarsal)\n", + " \n", + " \n", + " Neoplasm of the ceruminal gland\n", + " definition of HP:0040097 (Neoplasm of the ceruminal gland)\n", + " \n", + " \n", + " A tumor (abnormal growth of tissue) of the ceruminal gland.\n", + " definition of HP:0040097 (Neoplasm of the ceruminal gland)\n", + " \n", + " \n", + " #Adenoma of the ceruminous gland #Ceruminoma #Ceruminous adenoma\n", + " definition of HP:0040097 (Neoplasm of the ceruminal gland)\n", + " \n", + " \n", + " Pituitary carcinoma\n", + " definition of HP:0011763 (Pituitary carcinoma)\n", + " \n", + " \n", + " A pituitary tumor with subarachnoid, brain, or systemic metastasis. The diagnosis of a pituitary carcinoma requires evidence of metastatic disease, either outside the central nervous system (CNS) or as separate noncontiguous foci within the CNS.\n", + " definition of HP:0011763 (Pituitary carcinoma)\n", + " \n", + " \n", + " Elevated left atrial pressure\n", + " definition of HP:0031299 (Elevated left atrial pressure)\n", + " \n", + " \n", + " An abnormal increase in magnitude of the pressure in the left atrium.\n", + " definition of HP:0031299 (Elevated left atrial pressure)\n", + " \n", + " \n", + " Primary hyperaldosteronism\n", + " definition of HP:0011736 (Primary hyperaldosteronism)\n", + " \n", + " \n", + " A form of hyperaldosteronism caused by a defect within the adrenal gland.\n", + " definition of HP:0011736 (Primary hyperaldosteronism)\n", + " \n", + " \n", + " Bowdler spurs\n", + " definition of HP:6000873 (Bowdler spurs)\n", + " \n", + " \n", + " Transverse long bone midshaft spurs or osteochondral projections typically occuring in the fibulae and less commonly in the forearms.\n", + " definition of HP:6000873 (Bowdler spurs)\n", + " \n", + " \n", + " Anemia of inadequate production\n", + " definition of HP:0010972 (Anemia of inadequate production)\n", + " \n", + " \n", + " A kind of anemia characterized by inadequate production of erythrocytes.\n", + " definition of HP:0010972 (Anemia of inadequate production)\n", + " \n", + " \n", + " #Anaemia of inadequate production #Anemia, dyserythropoietic #Defective erythropoiesis #Dyserythropoietic anaemia #Dyserythropoietic anemia #Ineffective erythropoiesis\n", + " definition of HP:0010972 (Anemia of inadequate production)\n", + " \n", + " \n", + " Developmental glaucoma\n", + " definition of HP:0001087 (Developmental glaucoma)\n", + " \n", + " \n", + " Glaucoma which forms during the early years of a child's life is called developmental or congenital glaucoma.\n", + " definition of HP:0001087 (Developmental glaucoma)\n", + " \n", + " \n", + " #Childhood glaucoma #Infantile glaucoma #Paediatric glaucoma #Pediatric glaucoma\n", + " definition of HP:0001087 (Developmental glaucoma)\n", + " \n", + " \n", + " Elevated brain creatine level by MRS\n", + " definition of HP:0025050 (Elevated brain creatine level by MRS)\n", + " \n", + " \n", + " An increase in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS).\n", + " definition of HP:0025050 (Elevated brain creatine level by MRS)\n", + " \n", + " \n", + " #Elevated brain creatine level by magnetic resonance spectroscopy\n", + " definition of HP:0025050 (Elevated brain creatine level by MRS)\n", + " \n", + " \n", + " Mixed astigmatism\n", + " definition of HP:0031790 (Mixed astigmatism)\n", + " \n", + " \n", + " A type of astigmatism in which an unequal curvature of the cornea and some cases additionally of the lens causes one meridian of the eye to be hyperopic (farsighted) and a second meridian that is perpendicular to the first to be myopic (nearsighted).\n", + " definition of HP:0031790 (Mixed astigmatism)\n", + " \n", + " \n", + " Placoid macular lesion\n", + " definition of HP:0025110 (Placoid macular lesion)\n", + " \n", + " \n", + " Yellow/white, sharply delineated lesion, typically of inflammatory nature, involving the macula.\n", + " definition of HP:0025110 (Placoid macular lesion)\n", + " \n", + " \n", + " Abnormality of chromosome condensation\n", + " definition of HP:0011019 (Abnormality of chromosome condensation)\n", + " \n", + " \n", + " An abnormality of chromosome condensation.\n", + " definition of HP:0011019 (Abnormality of chromosome condensation)\n", + " \n", + " \n", + " Anti-pituitary antibody positivity\n", + " definition of HP:0025381 (Anti-pituitary antibody positivity)\n", + " \n", + " \n", + " Circulating antipituitary antibodies (APA) are markers of autoimmune hypophysitis, which may cause deficient pituitary function.\n", + " definition of HP:0025381 (Anti-pituitary antibody positivity)\n", + " \n", + " \n", + " Glandular hypospadias\n", + " definition of HP:0000807 (Glandular hypospadias)\n", + " \n", + " \n", + " Vaginal hematocele\n", + " definition of HP:0100674 (Vaginal hematocele)\n", + " \n", + " \n", + " Menstruating female between menarche and menopause\n", + " definition of HP:6000309 (Menstruating female between menarche and menopause)\n", + " \n", + " \n", + " Past medical history of a woman who is menstruating, i.e., not premenstrual or post-menopause.\n", + " definition of HP:6000309 (Menstruating female between menarche and menopause)\n", + " \n", + " \n", + " Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection\n", + " definition of HP:0011550 (Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection)\n", + " \n", + " \n", + " Abnormal scleral thickness\n", + " definition of HP:6000841 (Abnormal scleral thickness)\n", + " \n", + " \n", + " Any deviation from the normal height of the sclera, the white part of the eye that forms the tough, fibrous outer layer of the exterior of the eyeball.\n", + " definition of HP:6000841 (Abnormal scleral thickness)\n", + " \n", + " \n", + " Epiblepharon\n", + " definition of HP:0011225 (Epiblepharon)\n", + " \n", + " \n", + " Redundant eyelid skin pressing the eyelashes against the cornea and/or conjunctiva.\n", + " definition of HP:0011225 (Epiblepharon)\n", + " \n", + " \n", + " Abnormal pineal morphology\n", + " definition of HP:0012681 (Abnormal pineal morphology)\n", + " \n", + " \n", + " A structural abnormality of the pineal gland.\n", + " definition of HP:0012681 (Abnormal pineal morphology)\n", + " \n", + " \n", + " #Abnormality of pineal morphology\n", + " definition of HP:0012681 (Abnormal pineal morphology)\n", + " \n", + " \n", + " Increased CSF serine concentration\n", + " definition of HP:0500227 (Increased CSF serine concentration)\n", + " \n", + " \n", + " Abnormally increased levels of serine in cerebrospinal fluid.\n", + " definition of HP:0500227 (Increased CSF serine concentration)\n", + " \n", + " \n", + " #High serine levels in cerebrospinal fluid\n", + " definition of HP:0500227 (Increased CSF serine concentration)\n", + " \n", + " \n", + " Altered location of the longitudinal column in the fibrous sheath\n", + " definition of HP:0034947 (Altered location of the longitudinal column in the fibrous sheath)\n", + " \n", + " \n", + " The fibrous sheath is a structure in the midpiece of the sperm flagellum surrounding the outer dense fibers. It comprises two longitudinal columns and transverse ribs. In case of altered location of the longitudinal column in the fibrous sheath the symmetrical structure is lost, most commonly with the columns not being opposite to each other, which can be visualized by electron microscopy.\n", + " definition of HP:0034947 (Altered location of the longitudinal column in the fibrous sheath)\n", + " \n", + " \n", + " Decreased Succinyl-CoA 3-ketoacid CoA transferase activity\n", + " definition of HP:4000162 (Decreased Succinyl-CoA 3-ketoacid CoA transferase activity)\n", + " \n", + " \n", + " Decreased activity of the enzyme succinyl-CoA 3-ketoacid CoA transferase.\n", + " definition of HP:4000162 (Decreased Succinyl-CoA 3-ketoacid CoA transferase activity)\n", + " \n", + " \n", + " #SCOT activity low in fibroblasts\n", + " definition of HP:4000162 (Decreased Succinyl-CoA 3-ketoacid CoA transferase activity)\n", + " \n", + " \n", + " Luse bodies\n", + " definition of HP:0031513 (Luse bodies)\n", + " \n", + " \n", + " Fusiform collagen fibers with abnormally long spacing (exceeding 100 nm) between electron-dense bands.\n", + " definition of HP:0031513 (Luse bodies)\n", + " \n", + " \n", + " Altman type II sacrococcygeal teratoma\n", + " definition of HP:0030738 (Altman type II sacrococcygeal teratoma)\n", + " \n", + " \n", + " A type of sacrococcygeal teratoma that is predominantly external but has a large intrapelvic component.\n", + " definition of HP:0030738 (Altman type II sacrococcygeal teratoma)\n", + " \n", + " \n", + " C2-C3 subluxation\n", + " definition of HP:0008456 (C2-C3 subluxation)\n", + " \n", + " \n", + " A partial dislocation of the intervertebral joint between the second and third cervical vertebrae.\n", + " definition of HP:0008456 (C2-C3 subluxation)\n", + " \n", + " \n", + " Anti-glomerular basement membrane-antibody positivity\n", + " definition of HP:0033030 (Anti-glomerular basement membrane-antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies in the serum that react to the glomerular basement membrane.\n", + " definition of HP:0033030 (Anti-glomerular basement membrane-antibody positivity)\n", + " \n", + " \n", + " #Anti-GBM-antibody positivity\n", + " definition of HP:0033030 (Anti-glomerular basement membrane-antibody positivity)\n", + " \n", + " \n", + " Reduced dihydropyrimidine dehydrogenase level\n", + " definition of HP:0003654 (Reduced dihydropyrimidine dehydrogenase level)\n", + " \n", + " \n", + " An abnormal reduction in dihydropyrimidine dehydrogenase (NADP+) level.\n", + " definition of HP:0003654 (Reduced dihydropyrimidine dehydrogenase level)\n", + " \n", + " \n", + " Decreased 3-hydroxyisobutyrate dehydrogenase activity\n", + " definition of HP:6000214 (Decreased 3-hydroxyisobutyrate dehydrogenase activity)\n", + " \n", + " \n", + " The activity of 3-hydroxyisobutyrate dehydrogenase in the blood circulation is below the lower limit of normal.\n", + " definition of HP:6000214 (Decreased 3-hydroxyisobutyrate dehydrogenase activity)\n", + " \n", + " \n", + " Peritoneal effusion\n", + " definition of HP:0030995 (Peritoneal effusion)\n", + " \n", + " \n", + " An increase in the amount of fluid present in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen).\n", + " definition of HP:0030995 (Peritoneal effusion)\n", + " \n", + " \n", + " Abnormal circulating ornithine concentration\n", + " definition of HP:0012025 (Abnormal circulating ornithine concentration)\n", + " \n", + " \n", + " Deviation from the normal concentration of ornithine in the blood circulation.\n", + " definition of HP:0012025 (Abnormal circulating ornithine concentration)\n", + " \n", + " \n", + " Lenticular astigmatism\n", + " definition of HP:0031791 (Lenticular astigmatism)\n", + " \n", + " \n", + " A type of astigmatism related to an irregular shape of the lens.\n", + " definition of HP:0031791 (Lenticular astigmatism)\n", + " \n", + " \n", + " Thyroiditis\n", + " definition of HP:0100646 (Thyroiditis)\n", + " \n", + " \n", + " Inflammation of the thyroid gland.\n", + " definition of HP:0100646 (Thyroiditis)\n", + " \n", + " \n", + " #Thyroid gland inflammation\n", + " definition of HP:0100646 (Thyroiditis)\n", + " \n", + " \n", + " Uterine cyst\n", + " definition of HP:0034967 (Uterine cyst)\n", + " \n", + " \n", + " A closed sack of tissue (cyst) located in the uterus.\n", + " definition of HP:0034967 (Uterine cyst)\n", + " \n", + " \n", + " Absent sperm axoneme central pair complex\n", + " definition of HP:0033525 (Absent sperm axoneme central pair complex)\n", + " \n", + " \n", + " Absence of the central pair of microtubules in the sperm axoneme, thereby forming a 9+0 pattern instead of the normal 9+2 pattern.\n", + " definition of HP:0033525 (Absent sperm axoneme central pair complex)\n", + " \n", + " \n", + " #Absent central pair complex (9+0 pattern)\n", + " definition of HP:0033525 (Absent sperm axoneme central pair complex)\n", + " \n", + " \n", + " Ecrrine sweat gland predominance\n", + " definition of HP:6000537 (Ecrrine sweat gland predominance)\n", + " \n", + " \n", + " Applies to an abnormality of the skin that is located in or surrounding eccrine sweat glands.\n", + " definition of HP:6000537 (Ecrrine sweat gland predominance)\n", + " \n", + " \n", + " Conjunctival hamartoma\n", + " definition of HP:0100780 (Conjunctival hamartoma)\n", + " \n", + " \n", + " A hamartoma (disordered proliferation of mature tissues) of the conjunctiva.\n", + " definition of HP:0100780 (Conjunctival hamartoma)\n", + " \n", + " \n", + " Abnormal morphology of the choroidal vasculature\n", + " definition of HP:0025568 (Abnormal morphology of the choroidal vasculature)\n", + " \n", + " \n", + " Endometritis\n", + " definition of HP:0025636 (Endometritis)\n", + " \n", + " \n", + " Inflammation of the inner lining of the uterus (endometrium).\n", + " definition of HP:0025636 (Endometritis)\n", + " \n", + " \n", + " #Endometrial inflammation #Inflammation of the inner lining of the uterus\n", + " definition of HP:0025636 (Endometritis)\n", + " \n", + " \n", + " Retinal dystrophy\n", + " definition of HP:0000556 (Retinal dystrophy)\n", + " \n", + " \n", + " Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.\n", + " definition of HP:0000556 (Retinal dystrophy)\n", + " \n", + " \n", + " #Breakdown of light-sensitive cells in back of eye\n", + " definition of HP:0000556 (Retinal dystrophy)\n", + " \n", + " \n", + " Contracture of the interphalangeal joint of the hallux\n", + " definition of HP:0010214 (Contracture of the interphalangeal joint of the hallux)\n", + " \n", + " \n", + " The interphalangeal joint of the big toe cannot be straightened actively or passively.\n", + " definition of HP:0010214 (Contracture of the interphalangeal joint of the hallux)\n", + " \n", + " \n", + " Abnormal circulating carnitine concentration\n", + " definition of HP:0010967 (Abnormal circulating carnitine concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of carnitine in the blood circulation.\n", + " definition of HP:0010967 (Abnormal circulating carnitine concentration)\n", + " \n", + " \n", + " Elevated urinary N-carbamoyl-beta-alanine level\n", + " definition of HP:6000279 (Elevated urinary N-carbamoyl-beta-alanine level)\n", + " \n", + " \n", + " The amount of N-carbamoyl-beta-alanine present in urine, when adjusted for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000279 (Elevated urinary N-carbamoyl-beta-alanine level)\n", + " \n", + " \n", + " Pseudoepiphyses of the 5th finger\n", + " definition of HP:0009389 (Pseudoepiphyses of the 5th finger)\n", + " \n", + " \n", + " A secondary ossification center in the fifth finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone.\n", + " definition of HP:0009389 (Pseudoepiphyses of the 5th finger)\n", + " \n", + " \n", + " Positive urine methadone test\n", + " definition of HP:0031841 (Positive urine methadone test)\n", + " \n", + " \n", + " Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in urine.\n", + " definition of HP:0031841 (Positive urine methadone test)\n", + " \n", + " \n", + " Adactyly\n", + " definition of HP:0009776 (Adactyly)\n", + " \n", + " \n", + " The absence of all phalanges of all the digits of a limb and the associated soft tissues.\n", + " definition of HP:0009776 (Adactyly)\n", + " \n", + " \n", + " #Aphalangy\n", + " definition of HP:0009776 (Adactyly)\n", + " \n", + " \n", + " Duplication of phalanx of toe\n", + " definition of HP:0010181 (Duplication of phalanx of toe)\n", + " \n", + " \n", + " Partial/complete duplication of one or more phalanx of toe.\n", + " definition of HP:0010181 (Duplication of phalanx of toe)\n", + " \n", + " \n", + " #Duplicated toe bone #Partial/complete duplication of the phalanges of the toes\n", + " definition of HP:0010181 (Duplication of phalanx of toe)\n", + " \n", + " \n", + " Curved 1st metatarsal\n", + " definition of HP:0010070 (Curved 1st metatarsal)\n", + " \n", + " \n", + " A deviation from the normal straight shape of a proximal phalanx of the 1st metatarsal bone.\n", + " definition of HP:0010070 (Curved 1st metatarsal)\n", + " \n", + " \n", + " #Curved 1st long bone of foot\n", + " definition of HP:0010070 (Curved 1st metatarsal)\n", + " \n", + " \n", + " Oculogyric crisis\n", + " definition of HP:0010553 (Oculogyric crisis)\n", + " \n", + " \n", + " An acute dystonic reaction with blepharospasm, periorbital twitches, and protracted fixed staring episodes. There may be a maximal upward deviation of the eyes in the sustained fashion. Oculogyric crisis can be triggered by a number of factors including neuroleptic medications.\n", + " definition of HP:0010553 (Oculogyric crisis)\n", + " \n", + " \n", + " Decreased platelet glycoprotein IIb-IIIa\n", + " definition of HP:0001975 (Decreased platelet glycoprotein IIb-IIIa)\n", + " \n", + " \n", + " Decreased cell membrane concentration of glycoprotein IIb-IIIa.\n", + " definition of HP:0001975 (Decreased platelet glycoprotein IIb-IIIa)\n", + " \n", + " \n", + " #Reduced level of platelet glycoprotein IIb/IIIa complex\n", + " definition of HP:0001975 (Decreased platelet glycoprotein IIb-IIIa)\n", + " \n", + " \n", + " Focal impaired awareness epileptic spasm\n", + " definition of HP:0032844 (Focal impaired awareness epileptic spasm)\n", + " \n", + " \n", + " A type of focal-onset epileptic spasm in which awareness is impaired at some point during the seizure.\n", + " definition of HP:0032844 (Focal impaired awareness epileptic spasm)\n", + " \n", + " \n", + " Focal hemiclonic seizure\n", + " definition of HP:0006813 (Focal hemiclonic seizure)\n", + " \n", + " \n", + " A type of focal clonic seizure characterized by sustained rhythmic jerking rapidly involves one side of the body at seizure onset.\n", + " definition of HP:0006813 (Focal hemiclonic seizure)\n", + " \n", + " \n", + " #Hemiclonic seizure #Hemiclonic seizures #Unilateral clonic seizure #Unilateral clonic seizures\n", + " definition of HP:0006813 (Focal hemiclonic seizure)\n", + " \n", + " \n", + " Polar cataract\n", + " definition of HP:0010696 (Polar cataract)\n", + " \n", + " \n", + " A type of Congenital cataract in which the opacities occupy the subcapsular cortex at the anterior or posterior pole of the lens.\n", + " definition of HP:0010696 (Polar cataract)\n", + " \n", + " \n", + " Carotid cavernous fistula\n", + " definition of HP:0031157 (Carotid cavernous fistula)\n", + " \n", + " \n", + " An abnormal connection between a carotid artery and the cavernous sinus.\n", + " definition of HP:0031157 (Carotid cavernous fistula)\n", + " \n", + " \n", + " #Caroticocavernous fistula\n", + " definition of HP:0031157 (Carotid cavernous fistula)\n", + " \n", + " \n", + " Focal aware cognitive seizure with dyslexia/alexia\n", + " definition of HP:0032707 (Focal aware cognitive seizure with dyslexia/alexia)\n", + " \n", + " \n", + " A focal cognitive seizure with dyslexia / alexia characterized by retained awareness throughout the seizure.\n", + " definition of HP:0032707 (Focal aware cognitive seizure with dyslexia/alexia)\n", + " \n", + " \n", + " Abnormal erythroid lineage cell morphology\n", + " definition of HP:0012130 (Abnormal erythroid lineage cell morphology)\n", + " \n", + " \n", + " An anomaly of erythroid lineage cells, that is, of the erythropoietic cells in the lineage leading to and including erythrocytes.\n", + " definition of HP:0012130 (Abnormal erythroid lineage cell morphology)\n", + " \n", + " \n", + " #Abnormality of cells of the erythroid lineage\n", + " definition of HP:0012130 (Abnormal erythroid lineage cell morphology)\n", + " \n", + " \n", + " Third cranial nerve hypoplasia\n", + " definition of HP:6000597 (Third cranial nerve hypoplasia)\n", + " \n", + " \n", + " Underdevelopment of the third cranial nerve (oculomotor nerve).\n", + " definition of HP:6000597 (Third cranial nerve hypoplasia)\n", + " \n", + " \n", + " Abnormally prominent line of Schwalbe\n", + " definition of HP:0007873 (Abnormally prominent line of Schwalbe)\n", + " \n", + " \n", + " #Prominent Schwalbe lines\n", + " definition of HP:0007873 (Abnormally prominent line of Schwalbe)\n", + " \n", + " \n", + " Reduced FEV1/FVC ratio\n", + " definition of HP:0030877 (Reduced FEV1/FVC ratio)\n", + " \n", + " \n", + " Abnormally low FEV1/FVC (FEV1 - forced expiratory volume in 1 second; FVC forced vital capacity).\n", + " definition of HP:0030877 (Reduced FEV1/FVC ratio)\n", + " \n", + " \n", + " #Obstructive deficit on pulmonary function test #Obstructive deficit on pulmonary function testing\n", + " definition of HP:0030877 (Reduced FEV1/FVC ratio)\n", + " \n", + " \n", + " Abnormal arcuate artery lumen morphology\n", + " definition of HP:0033896 (Abnormal arcuate artery lumen morphology)\n", + " \n", + " \n", + " Abnormal structural characteristics of the interior space (lumen) of the arcuate artery of the kidney.\n", + " definition of HP:0033896 (Abnormal arcuate artery lumen morphology)\n", + " \n", + " \n", + " #Abnormalities of the arcuate arterial lumen\n", + " definition of HP:0033896 (Abnormal arcuate artery lumen morphology)\n", + " \n", + " \n", + " Abnormality of the intrinsic pathway\n", + " definition of HP:0010989 (Abnormality of the intrinsic pathway)\n", + " \n", + " \n", + " An abnormality of the intrinsic pathway (also known as the contact activation pathway) of the coagulation cascade.\n", + " definition of HP:0010989 (Abnormality of the intrinsic pathway)\n", + " \n", + " \n", + " Pedal edema\n", + " definition of HP:0010741 (Pedal edema)\n", + " \n", + " \n", + " An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg.\n", + " definition of HP:0010741 (Pedal edema)\n", + " \n", + " \n", + " #Edema of the lower limbs #Fluid accumulation in lower limbs #Leg edema #Leg oedema #Lower leg swelling #Oedema of the lower limbs #Pedal oedema #Peripheral edema of lower extremity #Peripheral oedema of lower extremity\n", + " definition of HP:0010741 (Pedal edema)\n", + " \n", + " \n", + " Shortening of all distal phalanges of the toes\n", + " definition of HP:0005793 (Shortening of all distal phalanges of the toes)\n", + " \n", + " \n", + " Abnormally short distal phalanx of toe of all toes.\n", + " definition of HP:0005793 (Shortening of all distal phalanges of the toes)\n", + " \n", + " \n", + " #Shortening of all outermost bone of the toes\n", + " definition of HP:0005793 (Shortening of all distal phalanges of the toes)\n", + " \n", + " \n", + " Abnormal circulating interleukin 12 concentration\n", + " definition of HP:6000442 (Abnormal circulating interleukin 12 concentration)\n", + " \n", + " \n", + " Any deviation from the normal range of the concentration of interleukin 12 in the blood circulation.\n", + " definition of HP:6000442 (Abnormal circulating interleukin 12 concentration)\n", + " \n", + " \n", + " Elevated circulating hyaluronic acid concentration\n", + " definition of HP:4000213 (Elevated circulating hyaluronic acid concentration)\n", + " \n", + " \n", + " Concentration of hyaluronic acid in the blood circulation above the upper limit of normal.\n", + " definition of HP:4000213 (Elevated circulating hyaluronic acid concentration)\n", + " \n", + " \n", + " #Hyaluronic acid high in blood\n", + " definition of HP:4000213 (Elevated circulating hyaluronic acid concentration)\n", + " \n", + " \n", + " Anti-DREBRIN antibody positivity\n", + " definition of HP:6001059 (Anti-DREBRIN antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies in the serum that react against dendritic spine scaffolding protein Drebrin.\n", + " definition of HP:6001059 (Anti-DREBRIN antibody positivity)\n", + " \n", + " \n", + " Dorsal hirsutism\n", + " definition of HP:0034042 (Dorsal hirsutism)\n", + " \n", + " \n", + " Abnormally increased hair growth in the lskin of the back.\n", + " definition of HP:0034042 (Dorsal hirsutism)\n", + " \n", + " \n", + " Elevated urinary bile acid level\n", + " definition of HP:6000701 (Elevated urinary bile acid level)\n", + " \n", + " \n", + " The amount of bile acid in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000701 (Elevated urinary bile acid level)\n", + " \n", + " \n", + " Abnormal glomerular mesangium morphology\n", + " definition of HP:0001966 (Abnormal glomerular mesangium morphology)\n", + " \n", + " \n", + " An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries.\n", + " definition of HP:0001966 (Abnormal glomerular mesangium morphology)\n", + " \n", + " \n", + " #Abnormality glomerular mesangium morphology #Abnormality of the glomerular mesangium #Mesangial abnormality\n", + " definition of HP:0001966 (Abnormal glomerular mesangium morphology)\n", + " \n", + " \n", + " Decreased circulating heparan sulfate level\n", + " definition of HP:0410343 (Decreased circulating heparan sulfate level)\n", + " \n", + " \n", + " An abnormal decrease in the concentration of heparan sulfate in the blood.\n", + " definition of HP:0410343 (Decreased circulating heparan sulfate level)\n", + " \n", + " \n", + " #Decreased blood heparan sulfate concentration #Decreased blood heparan sulphate concentration #Decreased circulating heparan sulphate level\n", + " definition of HP:0410343 (Decreased circulating heparan sulfate level)\n", + " \n", + " \n", + " Ivory epiphysis of the proximal phalanx of the 4th toe\n", + " definition of HP:0100197 (Ivory epiphysis of the proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " #Increased bone density of end part of the innermost bone of the 4th toe\n", + " definition of HP:0100197 (Ivory epiphysis of the proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " Glioblastoma multiforme\n", + " definition of HP:0012174 (Glioblastoma multiforme)\n", + " \n", + " \n", + " A tumor arising from glia in the central nervous system with macroscopic regions of necrosis and hemorrhage. Microscopically, glioblastoma multiforme is characterized by regions of pseudopalisading necrosis, pleomorphic nuclei and cells, and microvascular proliferation.\n", + " definition of HP:0012174 (Glioblastoma multiforme)\n", + " \n", + " \n", + " #Glioblastoma\n", + " definition of HP:0012174 (Glioblastoma multiforme)\n", + " \n", + " \n", + " Focal aware emotional seizure with fear/anxiety/panic\n", + " definition of HP:0032738 (Focal aware emotional seizure with fear/anxiety/panic)\n", + " \n", + " \n", + " Focal emotional seizure with anxiety, fear or panic as an expressed or observed emotion at the outset of the seizure, in which awareness is retained throughout.\n", + " definition of HP:0032738 (Focal aware emotional seizure with fear/anxiety/panic)\n", + " \n", + " \n", + " Elevated plasma cell count\n", + " definition of HP:0025619 (Elevated plasma cell count)\n", + " \n", + " \n", + " An abnormally high number of plasma cells in the blood circulation. Plasma cells are the the effector cells dedicated to the production of a high amount of antibodies.\n", + " definition of HP:0025619 (Elevated plasma cell count)\n", + " \n", + " \n", + " Abnormal distribution of cell junction proteins in buccal mucosal cells\n", + " definition of HP:0410023 (Abnormal distribution of cell junction proteins in buccal mucosal cells)\n", + " \n", + " \n", + " An anomalous amount or location of cell junction proteins such as plakoglobin or Cx43.\n", + " definition of HP:0410023 (Abnormal distribution of cell junction proteins in buccal mucosal cells)\n", + " \n", + " \n", + " Second toe symphalangism\n", + " definition of HP:0010353 (Second toe symphalangism)\n", + " \n", + " \n", + " Fusion of the interphalangeal joints of the 2nd toe.\n", + " definition of HP:0010353 (Second toe symphalangism)\n", + " \n", + " \n", + " #2nd toe symphalangism #Fused bones of 2nd toe #Symphalangism affecting the phalanges of the 2nd toe\n", + " definition of HP:0010353 (Second toe symphalangism)\n", + " \n", + " \n", + " Acute sinusitis\n", + " definition of HP:0000255 (Acute sinusitis)\n", + " \n", + " \n", + " An acute form of sinusitis.\n", + " definition of HP:0000255 (Acute sinusitis)\n", + " \n", + " \n", + " Abnormality of the musculature of the thorax\n", + " definition of HP:0009131 (Abnormality of the musculature of the thorax)\n", + " \n", + " \n", + " A disease or lesion affecting the muscles of the thorax.\n", + " definition of HP:0009131 (Abnormality of the musculature of the thorax)\n", + " \n", + " \n", + " Elevated circulating dodecanoylcarnitine concentration\n", + " definition of HP:0033444 (Elevated circulating dodecanoylcarnitine concentration)\n", + " \n", + " \n", + " Concentration of dodecanoylcarnitine (C12:0) in the blood circulation above the upper limit of normal.\n", + " definition of HP:0033444 (Elevated circulating dodecanoylcarnitine concentration)\n", + " \n", + " \n", + " #Elevated circulating O-dodecanoylcarnitine concentration #Elevated plasma dodecanoylcarnitine, C12:0\n", + " definition of HP:0033444 (Elevated circulating dodecanoylcarnitine concentration)\n", + " \n", + " \n", + " Large for gestational age\n", + " definition of HP:0001520 (Large for gestational age)\n", + " \n", + " \n", + " The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age.\n", + " definition of HP:0001520 (Large for gestational age)\n", + " \n", + " \n", + " #Birth weight > 90th percentile #Birthweight > 90th percentile #Fetal macrosomia #Foetal macrosomia #Macrosomia #Macrosomia, neonatal\n", + " definition of HP:0001520 (Large for gestational age)\n", + " \n", + " \n", + " Abnormal circulating calcium concentration\n", + " definition of HP:0004363 (Abnormal circulating calcium concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of calcium in the blood circulation.\n", + " definition of HP:0004363 (Abnormal circulating calcium concentration)\n", + " \n", + " \n", + " #Abnormal blood calcium concentration #Abnormal blood calcium levels #Abnormal circulating Ca concentration #Abnormal circulating Ca2+ concentration\n", + " definition of HP:0004363 (Abnormal circulating calcium concentration)\n", + " \n", + " \n", + " Absent posterior alpha rhythm\n", + " definition of HP:0031518 (Absent posterior alpha rhythm)\n", + " \n", + " \n", + " Lack of normal alpha rhythm in the EEG. Alpha rhythm has been defined as a rhythm at 8-13 Hz occurring during wakefulness over the posterior regions of the head, generally with higher voltage over the occipital areas. Amplitude is variable but is mostly below 50 microvolt in adults. It is best seen with eyes closed and under conditions of physical relaxation and relative mental inactivity. It is blocked or attenuated by attention, especially visual and mental effort. One should here note the difference between the terms alpha rhythm and alpha activity: Alpha activity refers to activity in the range of 8-13 Hz and alpha rhythm is the activity of 8-13 Hz with specific characteristics as defined above.\n", + " definition of HP:0031518 (Absent posterior alpha rhythm)\n", + " \n", + " \n", + " Carotid sinus syncope\n", + " definition of HP:0012669 (Carotid sinus syncope)\n", + " \n", + " \n", + " An exaggerated response to carotid sinus baroreceptor stimulation resulting in syncope from transient diminished cerebral perfusion.\n", + " definition of HP:0012669 (Carotid sinus syncope)\n", + " \n", + " \n", + " Esophageal dilation\n", + " definition of HP:6000589 (Esophageal dilation)\n", + " \n", + " \n", + " Widening (relatively uniform increase in diameter) of a segment of the esophagus.\n", + " definition of HP:6000589 (Esophageal dilation)\n", + " \n", + " \n", + " Post-capillary pulmonary hypertension\n", + " definition of HP:0033635 (Post-capillary pulmonary hypertension)\n", + " \n", + " \n", + " Post-capillary pulmonary hypertension is a hemodynamic condition characterized by elevated mean pulmonary artery pressure (mPAP greater than 20 mmHg) and pulmonary artery wedge pressure (PAWP greater than 15 mmHg) and pulmonary vascular resistance (PVR less than 3 Wood units).\n", + " definition of HP:0033635 (Post-capillary pulmonary hypertension)\n", + " \n", + " \n", + " #Postcapillary pulmonary hypertension\n", + " definition of HP:0033635 (Post-capillary pulmonary hypertension)\n", + " \n", + " \n", + " Abnormal nail surface\n", + " definition of HP:0025757 (Abnormal nail surface)\n", + " \n", + " \n", + " An anomaly of the surface of the nail.\n", + " definition of HP:0025757 (Abnormal nail surface)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the bladder\n", + " definition of HP:0010476 (Aplasia/Hypoplasia of the bladder)\n", + " \n", + " \n", + " Absence or underdevelopment of the urinary bladder.\n", + " definition of HP:0010476 (Aplasia/Hypoplasia of the bladder)\n", + " \n", + " \n", + " #Absent/small bladder #Absent/underdeveloped bladder\n", + " definition of HP:0010476 (Aplasia/Hypoplasia of the bladder)\n", + " \n", + " \n", + " Intermittent microsaccadic pursuits\n", + " definition of HP:0007944 (Intermittent microsaccadic pursuits)\n", + " \n", + " \n", + " Absent muscle fiber emerin\n", + " definition of HP:0030117 (Absent muscle fiber emerin)\n", + " \n", + " \n", + " Immunohistochemistry shows complete lack of emerin protein in the muscle biopsy.\n", + " definition of HP:0030117 (Absent muscle fiber emerin)\n", + " \n", + " \n", + " #Absent muscle fibre emerin\n", + " definition of HP:0030117 (Absent muscle fiber emerin)\n", + " \n", + " \n", + " External carotid artery calcification\n", + " definition of HP:0031315 (External carotid artery calcification)\n", + " \n", + " \n", + " An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the external carotid artery.\n", + " definition of HP:0031315 (External carotid artery calcification)\n", + " \n", + " \n", + " Nonketotic hyperglycinemia\n", + " definition of HP:0008288 (Nonketotic hyperglycinemia)\n", + " \n", + " \n", + " Anterior creases of earlobe\n", + " definition of HP:0009908 (Anterior creases of earlobe)\n", + " \n", + " \n", + " Sharply demarcated, typically linear and approximately horizontal, indentations in the outer surface of the ear lobe.\n", + " definition of HP:0009908 (Anterior creases of earlobe)\n", + " \n", + " \n", + " #Earlobe crease #Transverse earlobe creases\n", + " definition of HP:0009908 (Anterior creases of earlobe)\n", + " \n", + " \n", + " Intestinal pseudo-obstruction\n", + " definition of HP:0004389 (Intestinal pseudo-obstruction)\n", + " \n", + " \n", + " A functional rather than mechanical obstruction of the intestines, associated with manifestations that resemble those caused by an intestinal obstruction, including distension, abdominal pain, nausea, vomiting, constipation or diarrhea, in an individual in whom a mechanical blockage has been excluded.\n", + " definition of HP:0004389 (Intestinal pseudo-obstruction)\n", + " \n", + " \n", + " #Intestinal pseudoobstruction\n", + " definition of HP:0004389 (Intestinal pseudo-obstruction)\n", + " \n", + " \n", + " Abnormal facial vein morphology\n", + " definition of HP:3000043 (Abnormal facial vein morphology)\n", + " \n", + " \n", + " An abnormality of a facial vein.\n", + " definition of HP:3000043 (Abnormal facial vein morphology)\n", + " \n", + " \n", + " #Abnormal vein of face #Abnormality of facial vein\n", + " definition of HP:3000043 (Abnormal facial vein morphology)\n", + " \n", + " \n", + " Abnormality of the mouth\n", + " definition of HP:0000153 (Abnormality of the mouth)\n", + " \n", + " \n", + " An abnormality of the mouth.\n", + " definition of HP:0000153 (Abnormality of the mouth)\n", + " \n", + " \n", + " #Abnormal mouth #Abnormality of the mouth\n", + " definition of HP:0000153 (Abnormality of the mouth)\n", + " \n", + " \n", + " Distal upper limb amyotrophy\n", + " definition of HP:0007149 (Distal upper limb amyotrophy)\n", + " \n", + " \n", + " Muscular atrophy of distal arm muscles.\n", + " definition of HP:0007149 (Distal upper limb amyotrophy)\n", + " \n", + " \n", + " #Distal upper limb muscle atrophy\n", + " definition of HP:0007149 (Distal upper limb amyotrophy)\n", + " \n", + " \n", + " Broad phalanges of the 3rd finger\n", + " definition of HP:0009440 (Broad phalanges of the 3rd finger)\n", + " \n", + " \n", + " Increased width of the phalanges of the 3rd finger.\n", + " definition of HP:0009440 (Broad phalanges of the 3rd finger)\n", + " \n", + " \n", + " #Wide bones of middle finger #Wide/broad middle finger phalanges\n", + " definition of HP:0009440 (Broad phalanges of the 3rd finger)\n", + " \n", + " \n", + " Abnormal sputum\n", + " definition of HP:0032016 (Abnormal sputum)\n", + " \n", + " \n", + " Abnormal appearance of material expectorated (coughed up) from the respiratory system and that is composed of mucus but may contain other substances such as pus, blood, microorganisms, and fibrin.\n", + " definition of HP:0032016 (Abnormal sputum)\n", + " \n", + " \n", + " #Abnormal sputum morphology\n", + " definition of HP:0032016 (Abnormal sputum)\n", + " \n", + " \n", + " Splenomegaly\n", + " definition of HP:0001744 (Splenomegaly)\n", + " \n", + " \n", + " Abnormal increased size of the spleen.\n", + " definition of HP:0001744 (Splenomegaly)\n", + " \n", + " \n", + " #Increased spleen size\n", + " definition of HP:0001744 (Splenomegaly)\n", + " \n", + " \n", + " Peritoneal mesothelioma\n", + " definition of HP:0100003 (Peritoneal mesothelioma)\n", + " \n", + " \n", + " A Malignant mesothelioma originating from cells of the peritoneum (the thin layer of mesothelium lining the abdomen). Peritoneal mesothelioma is the second most common form of mesothelioma after pleural mesothelioma.\n", + " definition of HP:0100003 (Peritoneal mesothelioma)\n", + " \n", + " \n", + " Epileptic encephalopathy\n", + " definition of HP:0200134 (Epileptic encephalopathy)\n", + " \n", + " \n", + " A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death.\n", + " definition of HP:0200134 (Epileptic encephalopathy)\n", + " \n", + " \n", + " #Convulsive encephalopathy\n", + " definition of HP:0200134 (Epileptic encephalopathy)\n", + " \n", + " \n", + " Keratoconus\n", + " definition of HP:0000563 (Keratoconus)\n", + " \n", + " \n", + " A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex.\n", + " definition of HP:0000563 (Keratoconus)\n", + " \n", + " \n", + " #Bulging cornea #Conical cornea\n", + " definition of HP:0000563 (Keratoconus)\n", + " \n", + " \n", + " Acute myeloid leukemia\n", + " definition of HP:0004808 (Acute myeloid leukemia)\n", + " \n", + " \n", + " A form of leukemia characterized by overproduction of an early myeloid cell.\n", + " definition of HP:0004808 (Acute myeloid leukemia)\n", + " \n", + " \n", + " #Acute myeloblastic leukaemia #Acute myeloblastic leukemia #Acute myelocytic leukaemia #Acute myelocytic leukemia #Acute myelogenous leukaemia #Acute myelogenous leukemia #Acute myeloid leukaemia #AML\n", + " definition of HP:0004808 (Acute myeloid leukemia)\n", + " \n", + " \n", + " Complete duplication of the distal phalanx of the 2nd finger\n", + " definition of HP:0009950 (Complete duplication of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Complete duplication of the distal phalanx of index finger.\n", + " definition of HP:0009950 (Complete duplication of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Complete duplication of the outermost bone of the index finger\n", + " definition of HP:0009950 (Complete duplication of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Bilateral radial aplasia\n", + " definition of HP:0004977 (Bilateral radial aplasia)\n", + " \n", + " \n", + " Missing radius bone on both sides associated with congenital failure of development.\n", + " definition of HP:0004977 (Bilateral radial aplasia)\n", + " \n", + " \n", + " #Bilateral absence of radius\n", + " definition of HP:0004977 (Bilateral radial aplasia)\n", + " \n", + " \n", + " History of recent cat bite\n", + " definition of HP:6000539 (History of recent cat bite)\n", + " \n", + " \n", + " Medical history of a recent bite or scratch injury due to a cat.\n", + " definition of HP:6000539 (History of recent cat bite)\n", + " \n", + " \n", + " #History of recent cat scratch\n", + " definition of HP:6000539 (History of recent cat bite)\n", + " \n", + " \n", + " Elevated CSF 5-amino-4-imidazolecarboxyamide concentration\n", + " definition of HP:6000238 (Elevated CSF 5-amino-4-imidazolecarboxyamide concentration)\n", + " \n", + " \n", + " The concentration of 5-amino-4-imidazolecarboxyamide in the cerebrospinal fluid (CSF) is above the upper limit of normal.\n", + " definition of HP:6000238 (Elevated CSF 5-amino-4-imidazolecarboxyamide concentration)\n", + " \n", + " \n", + " #Elevated CSF AICA-riboside concentration\n", + " definition of HP:6000238 (Elevated CSF 5-amino-4-imidazolecarboxyamide concentration)\n", + " \n", + " \n", + " Abnormal morphology of musculature of pharynx\n", + " definition of HP:0430015 (Abnormal morphology of musculature of pharynx)\n", + " \n", + " \n", + " An abnormality of any of the muscles of the pharynx.\n", + " definition of HP:0430015 (Abnormal morphology of musculature of pharynx)\n", + " \n", + " \n", + " #Abnormality of muscles of the pharynx #Abnormality of musculature of pharynx #Abnormality of pharyngeal musculature #Abnormality of pharynx musculature\n", + " definition of HP:0430015 (Abnormal morphology of musculature of pharynx)\n", + " \n", + " \n", + " Induced vaginal delivery\n", + " definition of HP:0030369 (Induced vaginal delivery)\n", + " \n", + " \n", + " Vaginal delivery following induction of labor, a procedure used to stimulate uterine contractions during pregnancy before labor begins on its own.\n", + " definition of HP:0030369 (Induced vaginal delivery)\n", + " \n", + " \n", + " Uninodular goiter\n", + " definition of HP:0011773 (Uninodular goiter)\n", + " \n", + " \n", + " Enlargement of the thyroid gland related to a singular nodule in the thyroid gland.\n", + " definition of HP:0011773 (Uninodular goiter)\n", + " \n", + " \n", + " #Uninodular goitre\n", + " definition of HP:0011773 (Uninodular goiter)\n", + " \n", + " \n", + " Abnormal middle ear reflexes\n", + " definition of HP:0004454 (Abnormal middle ear reflexes)\n", + " \n", + " \n", + " Moderate constriction of peripheral visual field\n", + " definition of HP:0030525 (Moderate constriction of peripheral visual field)\n", + " \n", + " \n", + " Peripheral visual field constriction with 20-49 degrees binocular visual field preserved.\n", + " definition of HP:0030525 (Moderate constriction of peripheral visual field)\n", + " \n", + " \n", + " #Moderate peripheral visual field loss\n", + " definition of HP:0030525 (Moderate constriction of peripheral visual field)\n", + " \n", + " \n", + " Heliotrope rash\n", + " definition of HP:0040324 (Heliotrope rash)\n", + " \n", + " \n", + " In a heliotrope rash, the color of the skin turns to violet, which is the color of the heliotrope flower.\n", + " definition of HP:0040324 (Heliotrope rash)\n", + " \n", + " \n", + " #Heliotrope erythema\n", + " definition of HP:0040324 (Heliotrope rash)\n", + " \n", + " \n", + " Macular hypopigmented whorls, streaks, and patches\n", + " definition of HP:0005593 (Macular hypopigmented whorls, streaks, and patches)\n", + " \n", + " \n", + " Pulmonary arteriovenous malformation\n", + " definition of HP:0006548 (Pulmonary arteriovenous malformation)\n", + " \n", + " \n", + " Pulmonary arteriovenous malformation, a condition most commonly associated with hereditary hemorrhagic telangiectasia, is an abnormal communication between the pulmonary artery and pulmonary vein without an intervening capillary communication. HRCT images usually show a coarse spidery appearance of the peripheral vascular markings in the lungs. More specific findings are obtained in the pulmonary angiogram where the normally invisible capillary phase is replaced by irregular vascular channels bridging the peripheral branches of pulmonary arteries and veins.\n", + " definition of HP:0006548 (Pulmonary arteriovenous malformation)\n", + " \n", + " \n", + " #Pulmonary AV malformation\n", + " definition of HP:0006548 (Pulmonary arteriovenous malformation)\n", + " \n", + " \n", + " Posterior rib gap\n", + " definition of HP:0030282 (Posterior rib gap)\n", + " \n", + " \n", + " Radiolucent focal defect of the posterior portion of a rib shaft. The 'gaps' may lead to flail chest.\n", + " definition of HP:0030282 (Posterior rib gap)\n", + " \n", + " \n", + " #Dorsal rib defect\n", + " definition of HP:0030282 (Posterior rib gap)\n", + " \n", + " \n", + " Brain atrophy\n", + " definition of HP:0012444 (Brain atrophy)\n", + " \n", + " \n", + " Partial or complete wasting (loss) of brain tissue that was once present.\n", + " definition of HP:0012444 (Brain atrophy)\n", + " \n", + " \n", + " #Brain degeneration #Brain wasting\n", + " definition of HP:0012444 (Brain atrophy)\n", + " \n", + " \n", + " Midnasal atresia\n", + " definition of HP:0010643 (Midnasal atresia)\n", + " \n", + " \n", + " Absence or abnormal closure of the midnasal cavity.\n", + " definition of HP:0010643 (Midnasal atresia)\n", + " \n", + " \n", + " Impaired Ig class switch recombination\n", + " definition of HP:0002959 (Impaired Ig class switch recombination)\n", + " \n", + " \n", + " An impairment of the class-switch recombination process that normally leads B lymphocytes to produce IgG, IgA, or IgE.\n", + " definition of HP:0002959 (Impaired Ig class switch recombination)\n", + " \n", + " \n", + " #Impaired B-lymphocyte isotype switching\n", + " definition of HP:0002959 (Impaired Ig class switch recombination)\n", + " \n", + " \n", + " Irreversible airflow obstruction\n", + " definition of HP:0033541 (Irreversible airflow obstruction)\n", + " \n", + " \n", + " Airflow obstruction without significant response to a bronchodilator defined as an increase in FEV1 and/or FVC by 12 percent or more and by at least 200 mL.\n", + " definition of HP:0033541 (Irreversible airflow obstruction)\n", + " \n", + " \n", + " #Irreversible pulmonary obstruction\n", + " definition of HP:0033541 (Irreversible airflow obstruction)\n", + " \n", + " \n", + " Antalgic gait\n", + " definition of HP:0031955 (Antalgic gait)\n", + " \n", + " \n", + " To avoid pain weight is put on the affected leg for as short a time as possible, resulting in a limp. The patients appear to be walking as if there were a thorn in the sole of the foot. To reduce the load on the affected leg the patients lift and lower their foot in a fixed ankle position.\n", + " definition of HP:0031955 (Antalgic gait)\n", + " \n", + " \n", + " Increased anti-alpha-gal IgE antibody level\n", + " definition of HP:0410249 (Increased anti-alpha-gal IgE antibody level)\n", + " \n", + " \n", + " Increased level of IgE antibody against galactose-alpha-1, 3 galactose (alpha-gal), a carbohydrate found in mammalian meat.\n", + " definition of HP:0410249 (Increased anti-alpha-gal IgE antibody level)\n", + " \n", + " \n", + " #Increased anti-galactose-alpha-1, 3 galactose IgE antibody level\n", + " definition of HP:0410249 (Increased anti-alpha-gal IgE antibody level)\n", + " \n", + " \n", + " Abnormal bone collagen fibril morphology\n", + " definition of HP:0011862 (Abnormal bone collagen fibril morphology)\n", + " \n", + " \n", + " Any structural anomaly of the connective tissue bundles in the extracellular matrix of bone tissue that are composed of collagen, and play a role in tissue strength and elasticity.\n", + " definition of HP:0011862 (Abnormal bone collagen fibril morphology)\n", + " \n", + " \n", + " Dull foveal reflex\n", + " definition of HP:0034362 (Dull foveal reflex)\n", + " \n", + " \n", + " Reduced brightness of the foveal reflex, which normally is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope.\n", + " definition of HP:0034362 (Dull foveal reflex)\n", + " \n", + " \n", + " #Decreased foveal light reflex #Muted foveal light reflex #Poor foveal light reflex\n", + " definition of HP:0034362 (Dull foveal reflex)\n", + " \n", + " \n", + " Displacement of the papillary muscles\n", + " definition of HP:0025447 (Displacement of the papillary muscles)\n", + " \n", + " \n", + " Abnormal location of the insertion of a papillary muscle into the left ventricular wall.\n", + " definition of HP:0025447 (Displacement of the papillary muscles)\n", + " \n", + " \n", + " History of recent plant thorn skin puncture\n", + " definition of HP:6000260 (History of recent plant thorn skin puncture)\n", + " \n", + " \n", + " A history of a plant skin puncture preceding the current presenting condition by hours, days, or weeks.\n", + " definition of HP:6000260 (History of recent plant thorn skin puncture)\n", + " \n", + " \n", + " Thyroid papillary adenoma\n", + " definition of HP:0011777 (Thyroid papillary adenoma)\n", + " \n", + " \n", + " Postaxial foot polydactyly\n", + " definition of HP:0001830 (Postaxial foot polydactyly)\n", + " \n", + " \n", + " Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit.\n", + " definition of HP:0001830 (Postaxial foot polydactyly)\n", + " \n", + " \n", + " #Extra toe attached near the little toe #Polydactyly affecting the 5th toe #Postaxial polydactyly of feet #Postaxial polydactyly of foot #Posterior polydactyly of foot\n", + " definition of HP:0001830 (Postaxial foot polydactyly)\n", + " \n", + " \n", + " Abnormal circulating pregnenolone concentration\n", + " definition of HP:0031187 (Abnormal circulating pregnenolone concentration)\n", + " \n", + " \n", + " An abnormality of the concentration of pregnenolone in the blood.\n", + " definition of HP:0031187 (Abnormal circulating pregnenolone concentration)\n", + " \n", + " \n", + " #Abnormality of circulating pregnenolone level\n", + " definition of HP:0031187 (Abnormal circulating pregnenolone concentration)\n", + " \n", + " \n", + " Abnormal brain lactate level by MRS\n", + " definition of HP:0025045 (Abnormal brain lactate level by MRS)\n", + " \n", + " \n", + " A deviation from normal of the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS).\n", + " definition of HP:0025045 (Abnormal brain lactate level by MRS)\n", + " \n", + " \n", + " #Abnormal lactate level by magnetic resonance spectroscopy\n", + " definition of HP:0025045 (Abnormal brain lactate level by MRS)\n", + " \n", + " \n", + " Accumulation of muscle fiber myotilin\n", + " definition of HP:0030227 (Accumulation of muscle fiber myotilin)\n", + " \n", + " \n", + " Immunohistochemistry shows accumulation of myotilin protein in the muscle biopsy.\n", + " definition of HP:0030227 (Accumulation of muscle fiber myotilin)\n", + " \n", + " \n", + " #Accumulation of muscle fibre myotilin\n", + " definition of HP:0030227 (Accumulation of muscle fiber myotilin)\n", + " \n", + " \n", + " Thickened helices\n", + " definition of HP:0000391 (Thickened helices)\n", + " \n", + " \n", + " Increased thickness of the helix of the ear.\n", + " definition of HP:0000391 (Thickened helices)\n", + " \n", + " \n", + " #Thick helix\n", + " definition of HP:0000391 (Thickened helices)\n", + " \n", + " \n", + " Abnormal circulating proline concentration\n", + " definition of HP:0010907 (Abnormal circulating proline concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of proline or a proline metabolite in the blood circulation.\n", + " definition of HP:0010907 (Abnormal circulating proline concentration)\n", + " \n", + " \n", + " Decreased proportion of naive CD4 T cells\n", + " definition of HP:0410378 (Decreased proportion of naive CD4 T cells)\n", + " \n", + " \n", + " An abnormally reduced proportion of naive CD4 T cells relative to the total number of T cells.\n", + " definition of HP:0410378 (Decreased proportion of naive CD4 T cells)\n", + " \n", + " \n", + " #Decreased proportion of CD4+CD45RA+ cells #Decreased proportion of naive thymus-derived CD4-positive, alpha-beta T cells #Reduced proportion of naive CD4 T cells\n", + " definition of HP:0410378 (Decreased proportion of naive CD4 T cells)\n", + " \n", + " \n", + " Fibrocystic lung disease\n", + " definition of HP:0006552 (Fibrocystic lung disease)\n", + " \n", + " \n", + " Cone-shaped epiphysis of the 1st metatarsal\n", + " definition of HP:0010151 (Cone-shaped epiphysis of the 1st metatarsal)\n", + " \n", + " \n", + " A conical (cone-shaped) appearance of the epiphysis of the first metatarsal of the foot.\n", + " definition of HP:0010151 (Cone-shaped epiphysis of the 1st metatarsal)\n", + " \n", + " \n", + " #Cone-shaped end part of the 1st long bone of foot\n", + " definition of HP:0010151 (Cone-shaped epiphysis of the 1st metatarsal)\n", + " \n", + " \n", + " Laryngeal edema\n", + " definition of HP:0012027 (Laryngeal edema)\n", + " \n", + " \n", + " An abnormal accumulation of fluid and swelling in the tissues of the larynx.\n", + " definition of HP:0012027 (Laryngeal edema)\n", + " \n", + " \n", + " #Laryngeal oedema\n", + " definition of HP:0012027 (Laryngeal edema)\n", + " \n", + " \n", + " Positive urine cannabinoid test\n", + " definition of HP:0500110 (Positive urine cannabinoid test)\n", + " \n", + " \n", + " Detection of delta-9-tetrahydrocannabinol (THC) or other cannabinoid metabolites in urine.\n", + " definition of HP:0500110 (Positive urine cannabinoid test)\n", + " \n", + " \n", + " #Positive urine marijuana test #Positive urine pot test\n", + " definition of HP:0500110 (Positive urine cannabinoid test)\n", + " \n", + " \n", + " Cor triatriatum\n", + " definition of HP:0010774 (Cor triatriatum)\n", + " \n", + " \n", + " The presence of an additional membrane in the left or right cardiac atrium which results in the subdivision of the affected atrium (and thus in total three atria, whence the name).\n", + " definition of HP:0010774 (Cor triatriatum)\n", + " \n", + " \n", + " #Triatrial heart\n", + " definition of HP:0010774 (Cor triatriatum)\n", + " \n", + " \n", + " Erlenmeyer flask deformity of the femurs\n", + " definition of HP:0004975 (Erlenmeyer flask deformity of the femurs)\n", + " \n", + " \n", + " Flaring of distal femur.\n", + " definition of HP:0004975 (Erlenmeyer flask deformity of the femurs)\n", + " \n", + " \n", + " #Erlenmeyer flask deformity of distal femur #Erlenmeyer flask femora #Erlenmeyer flask shaped thighbone\n", + " definition of HP:0004975 (Erlenmeyer flask deformity of the femurs)\n", + " \n", + " \n", + " Maternal fever in pregnancy\n", + " definition of HP:0030244 (Maternal fever in pregnancy)\n", + " \n", + " \n", + " The occurrence of an elevated body temperature of the mother during pregnancy.\n", + " definition of HP:0030244 (Maternal fever in pregnancy)\n", + " \n", + " \n", + " #Maternal fever during pregnancy\n", + " definition of HP:0030244 (Maternal fever in pregnancy)\n", + " \n", + " \n", + " Female hypogonadism\n", + " definition of HP:0000134 (Female hypogonadism)\n", + " \n", + " \n", + " Decreased functionality of the female gonads, i.e., of the ovary.\n", + " definition of HP:0000134 (Female hypogonadism)\n", + " \n", + " \n", + " #Hypogonadism, female\n", + " definition of HP:0000134 (Female hypogonadism)\n", + " \n", + " \n", + " Mucus plug\n", + " definition of HP:0025695 (Mucus plug)\n", + " \n", + " \n", + " Mucus that is abnormally thick in consistency (ie, inspissated) and plugs the airway is known as a mucus plug. Mucus plugs consist of mucins and cells and can partially or completely obstruct one or more airways and cause serious consequences, including atelectasis and recurrent infection.\n", + " definition of HP:0025695 (Mucus plug)\n", + " \n", + " \n", + " Increased circulating androgen concentration\n", + " definition of HP:0030348 (Increased circulating androgen concentration)\n", + " \n", + " \n", + " An elevation of the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.\n", + " definition of HP:0030348 (Increased circulating androgen concentration)\n", + " \n", + " \n", + " #Hyperandrogenemia #Increased circulating androgen level\n", + " definition of HP:0030348 (Increased circulating androgen concentration)\n", + " \n", + " \n", + " Posterior Y-sutural cataract\n", + " definition of HP:0008031 (Posterior Y-sutural cataract)\n", + " \n", + " \n", + " A type of sutural cataract in which the opacity follows the posterior Y suture.\n", + " definition of HP:0008031 (Posterior Y-sutural cataract)\n", + " \n", + " \n", + " #Posterior Y-sutural cataracts\n", + " definition of HP:0008031 (Posterior Y-sutural cataract)\n", + " \n", + " \n", + " Oil-drop brown pigmentation of the corneal limbus\n", + " definition of HP:6000027 (Oil-drop brown pigmentation of the corneal limbus)\n", + " \n", + " \n", + " Brown pigment spots in the limbus (border between the cornea and the sclera).\n", + " definition of HP:6000027 (Oil-drop brown pigmentation of the corneal limbus)\n", + " \n", + " \n", + " Curved linear dimple below the lower lip\n", + " definition of HP:0002055 (Curved linear dimple below the lower lip)\n", + " \n", + " \n", + " Enlarged epiphysis of the distal phalanx of the 4th finger\n", + " definition of HP:0009253 (Enlarged epiphysis of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms.\n", + " definition of HP:0009253 (Enlarged epiphysis of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " #Enlarged end part of the outermost bone of the ring finger\n", + " definition of HP:0009253 (Enlarged epiphysis of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " Abnormal circulating leptin concentration\n", + " definition of HP:0004361 (Abnormal circulating leptin concentration)\n", + " \n", + " \n", + " An abnormal concentration of leptin in the blood.\n", + " definition of HP:0004361 (Abnormal circulating leptin concentration)\n", + " \n", + " \n", + " #Abnormality of circulating leptin level\n", + " definition of HP:0004361 (Abnormal circulating leptin concentration)\n", + " \n", + " \n", + " Frontal release signs\n", + " definition of HP:0000743 (Frontal release signs)\n", + " \n", + " \n", + " Primitive reflexes traditionally held to be a sign of disorders that affect the frontal lobes.\n", + " definition of HP:0000743 (Frontal release signs)\n", + " \n", + " \n", + " #Frontal release reflexes\n", + " definition of HP:0000743 (Frontal release signs)\n", + " \n", + " \n", + " Medial rectus muscle underaction\n", + " definition of HP:0031756 (Medial rectus muscle underaction)\n", + " \n", + " \n", + " Reduced movement of the medial rectus muscle which improves on testing ductions, typically associated with neurogenic palsy.\n", + " definition of HP:0031756 (Medial rectus muscle underaction)\n", + " \n", + " \n", + " Bilateral ulnar hypoplasia\n", + " definition of HP:0005648 (Bilateral ulnar hypoplasia)\n", + " \n", + " \n", + " Underdevelopment of the ulna on both sides.\n", + " definition of HP:0005648 (Bilateral ulnar hypoplasia)\n", + " \n", + " \n", + " Decreased urinary creatine level\n", + " definition of HP:6000748 (Decreased urinary creatine level)\n", + " \n", + " \n", + " The amount of creatine in the urine, normalized for urine concentration, is below the lower limit of normal.\n", + " definition of HP:6000748 (Decreased urinary creatine level)\n", + " \n", + " \n", + " Focal aware emotional seizure with laughing\n", + " definition of HP:0032745 (Focal aware emotional seizure with laughing)\n", + " \n", + " \n", + " Focal emotional seizure with laughing in which awareness is retained throughout.\n", + " definition of HP:0032745 (Focal aware emotional seizure with laughing)\n", + " \n", + " \n", + " Palpebral fissure narrowing on adduction\n", + " definition of HP:0000661 (Palpebral fissure narrowing on adduction)\n", + " \n", + " \n", + " Trapezoidal distal femoral condyles\n", + " definition of HP:0006432 (Trapezoidal distal femoral condyles)\n", + " \n", + " \n", + " Argininuria\n", + " definition of HP:0003268 (Argininuria)\n", + " \n", + " \n", + " A increased concentration of arginine in the urine.\n", + " definition of HP:0003268 (Argininuria)\n", + " \n", + " \n", + " #High urine arginine levels\n", + " definition of HP:0003268 (Argininuria)\n", + " \n", + " \n", + " Chalazion\n", + " definition of HP:0010605 (Chalazion)\n", + " \n", + " \n", + " A chronic epithelioid cell granulomatous inflammation of the meibomian gland caused by inflammation of a blocked meibomian gland. A chalazion or meibomian cyst appears as a painless tuberous swelling in the upper lid without loss of eyelashes.\n", + " definition of HP:0010605 (Chalazion)\n", + " \n", + " \n", + " #Meibomian gland lipogranuloma\n", + " definition of HP:0010605 (Chalazion)\n", + " \n", + " \n", + " Triangular epiphysis of the proximal phalanx of the 3rd toe\n", + " definition of HP:0100167 (Triangular epiphysis of the proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Triangular end part of the innermost bone of the 3rd toe\n", + " definition of HP:0100167 (Triangular epiphysis of the proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Onychotillomania\n", + " definition of HP:0032509 (Onychotillomania)\n", + " \n", + " \n", + " Onychotillomania is characterized by the compulsive or irresistible urge in patients to pick at, pull off, or harmfully bite or chew their nails.\n", + " definition of HP:0032509 (Onychotillomania)\n", + " \n", + " \n", + " Pyrimidine-responsive megaloblastic anemia\n", + " definition of HP:0003339 (Pyrimidine-responsive megaloblastic anemia)\n", + " \n", + " \n", + " A type of megaloblastic anemia that improves upon administration of pyrimidine supplements such as uridylic acid and cytidylic acid.\n", + " definition of HP:0003339 (Pyrimidine-responsive megaloblastic anemia)\n", + " \n", + " \n", + " #Anaemia corrected by uridylic acid and cytidylic acid #Anemia corrected by uridylic acid and cytidylic acid #Pyrimidine-responsive megaloblastic anaemia\n", + " definition of HP:0003339 (Pyrimidine-responsive megaloblastic anemia)\n", + " \n", + " \n", + " Elevated coagulation factor V activity\n", + " definition of HP:0011996 (Elevated coagulation factor V activity)\n", + " \n", + " \n", + " Increased activity of coagulation factor V, Factor V, which is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex.\n", + " definition of HP:0011996 (Elevated coagulation factor V activity)\n", + " \n", + " \n", + " #Elevated factor V activity #Plasma factor V elevated\n", + " definition of HP:0011996 (Elevated coagulation factor V activity)\n", + " \n", + " \n", + " Onychogryposis of fingernail\n", + " definition of HP:0040036 (Onychogryposis of fingernail)\n", + " \n", + " \n", + " Thickened fingernails.\n", + " definition of HP:0040036 (Onychogryposis of fingernail)\n", + " \n", + " \n", + " #Overgrowth and curving of fingernail\n", + " definition of HP:0040036 (Onychogryposis of fingernail)\n", + " \n", + " \n", + " Frontotemporal cerebral atrophy\n", + " definition of HP:0006892 (Frontotemporal cerebral atrophy)\n", + " \n", + " \n", + " Atrophy (wasting, decrease in size of cells or tissue) affecting the frontotemporal cerebrum.\n", + " definition of HP:0006892 (Frontotemporal cerebral atrophy)\n", + " \n", + " \n", + " #Cerebral atrophy, frontotemporal\n", + " definition of HP:0006892 (Frontotemporal cerebral atrophy)\n", + " \n", + " \n", + " Abnormally slow thought process\n", + " definition of HP:0031843 (Abnormally slow thought process)\n", + " \n", + " \n", + " An inner sense from the self that thoughts are abnormally slow and the individual feels that they are unable to increase their rate of thinking. The primary pathology is the decreased rate and other qualities of thinking (e.g. naming of objects) are intact, just slowed. This may be associated with slowed speech, but may be internal and masked by speech that is limited to brief (yes or no) answers.\n", + " definition of HP:0031843 (Abnormally slow thought process)\n", + " \n", + " \n", + " #Abnormally slow thought processes #Bradyphrenia #Mental slowness #Slow thought processes #Slowed thinking #Slowed thoughts #Slowness of thought\n", + " definition of HP:0031843 (Abnormally slow thought process)\n", + " \n", + " \n", + " Linear earlobe crease\n", + " definition of HP:0031510 (Linear earlobe crease)\n", + " \n", + " \n", + " A transverse linear fissure (crease) in the lobule of the ear.\n", + " definition of HP:0031510 (Linear earlobe crease)\n", + " \n", + " \n", + " Abnormal iris pigmentation\n", + " definition of HP:0008034 (Abnormal iris pigmentation)\n", + " \n", + " \n", + " Abnormal pigmentation of the iris.\n", + " definition of HP:0008034 (Abnormal iris pigmentation)\n", + " \n", + " \n", + " Ageusia\n", + " definition of HP:0041051 (Ageusia)\n", + " \n", + " \n", + " A rare condition that is characterized by a complete loss of taste function of the tongue.\n", + " definition of HP:0041051 (Ageusia)\n", + " \n", + " \n", + " #Absent sense of taste #Impaired taste sensation #Lost taste\n", + " definition of HP:0041051 (Ageusia)\n", + " \n", + " \n", + " Piebald skin depigmentation\n", + " definition of HP:0007544 (Piebald skin depigmentation)\n", + " \n", + " \n", + " Congenital large depigmented (white) macule of irergular rhomboid shape. Piebald skin depigmentation generally presents with multiple such macules in the affected individual. There may be smaller (5-15mm), discrete, skin-colored and hyperpigmented macules interspersed within the depigmented macules.\n", + " definition of HP:0007544 (Piebald skin depigmentation)\n", + " \n", + " \n", + " #Piebaldism\n", + " definition of HP:0007544 (Piebald skin depigmentation)\n", + " \n", + " \n", + " Impaired tactile sensation\n", + " definition of HP:0010830 (Impaired tactile sensation)\n", + " \n", + " \n", + " A reduced sense of touch (tactile sensation). This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus.\n", + " definition of HP:0010830 (Impaired tactile sensation)\n", + " \n", + " \n", + " #Abnormal thigmesthesia #Impaired touch sensation #Loss of tactile sensation\n", + " definition of HP:0010830 (Impaired tactile sensation)\n", + " \n", + " \n", + " Capillary fragility\n", + " definition of HP:0025017 (Capillary fragility)\n", + " \n", + " \n", + " Reduced resistance to rupture of capillary blood vessels. Capillary fragility may manifest as a bleeding diathesis with spontaneous ecchymoses (bruises).\n", + " definition of HP:0025017 (Capillary fragility)\n", + " \n", + " \n", + " Decreased amyloid beta 42 peptide CSF concentration\n", + " definition of HP:0025684 (Decreased amyloid beta 42 peptide CSF concentration)\n", + " \n", + " \n", + " A reduction from the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF).\n", + " definition of HP:0025684 (Decreased amyloid beta 42 peptide CSF concentration)\n", + " \n", + " \n", + " Fractured proximal phalanx of digit 5\n", + " definition of HP:0041214 (Fractured proximal phalanx of digit 5)\n", + " \n", + " \n", + " A partial or complete breakage of the proximal phalanx of digit 5.\n", + " definition of HP:0041214 (Fractured proximal phalanx of digit 5)\n", + " \n", + " \n", + " #bone proximal phalanx of digit 5\n", + " definition of HP:0041214 (Fractured proximal phalanx of digit 5)\n", + " \n", + " \n", + " Periventricular white matter hyperintensities\n", + " definition of HP:0030891 (Periventricular white matter hyperintensities)\n", + " \n", + " \n", + " Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles.\n", + " definition of HP:0030891 (Periventricular white matter hyperintensities)\n", + " \n", + " \n", + " #PVWMH\n", + " definition of HP:0030891 (Periventricular white matter hyperintensities)\n", + " \n", + " \n", + " Seizure\n", + " definition of HP:0001250 (Seizure)\n", + " \n", + " \n", + " A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.\n", + " definition of HP:0001250 (Seizure)\n", + " \n", + " \n", + " #Epileptic seizure #Seizures\n", + " definition of HP:0001250 (Seizure)\n", + " \n", + " \n", + " Abnormal radioactive iodine uptake test result\n", + " definition of HP:0031221 (Abnormal radioactive iodine uptake test result)\n", + " \n", + " \n", + " Any deviation from normal in the amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker.\n", + " definition of HP:0031221 (Abnormal radioactive iodine uptake test result)\n", + " \n", + " \n", + " Abnormal urine hexanoylglycine concentration\n", + " definition of HP:0500254 (Abnormal urine hexanoylglycine concentration)\n", + " \n", + " \n", + " Abnormal concentration of hexanoylglycine in the urine.\n", + " definition of HP:0500254 (Abnormal urine hexanoylglycine concentration)\n", + " \n", + " \n", + " #Abnormal urinary N-hexanoylglycine levels\n", + " definition of HP:0500254 (Abnormal urine hexanoylglycine concentration)\n", + " \n", + " \n", + " Irregular epiphysis of the distal phalanx of the 5th toe\n", + " definition of HP:0100207 (Irregular epiphysis of the distal phalanx of the 5th toe)\n", + " \n", + " \n", + " #Irregular end part of the outermost bone of the little toe #Irregular end part of the outermost bone of the pinkie toe #Irregular end part of the outermost bone of the pinky toe\n", + " definition of HP:0100207 (Irregular epiphysis of the distal phalanx of the 5th toe)\n", + " \n", + " \n", + " Abnormal pulmonary fissure architecture\n", + " definition of HP:0032992 (Abnormal pulmonary fissure architecture)\n", + " \n", + " \n", + " An abnormal form or location of a pulmonary fissure.\n", + " definition of HP:0032992 (Abnormal pulmonary fissure architecture)\n", + " \n", + " \n", + " Cortical sclerosis\n", + " definition of HP:0005652 (Cortical sclerosis)\n", + " \n", + " \n", + " Sclerosis (abnormal hardening) of cortical bone, characterized by increased radiodensity.\n", + " definition of HP:0005652 (Cortical sclerosis)\n", + " \n", + " \n", + " Hypophenylalaninemia\n", + " definition of HP:0500141 (Hypophenylalaninemia)\n", + " \n", + " \n", + " A decreased amount of phenylalanine in the blood.\n", + " definition of HP:0500141 (Hypophenylalaninemia)\n", + " \n", + " \n", + " #Decreased blood phenylalanine #Low blood phenylalanine\n", + " definition of HP:0500141 (Hypophenylalaninemia)\n", + " \n", + " \n", + " Abnormality of the spinocerebellar tracts\n", + " definition of HP:0003133 (Abnormality of the spinocerebellar tracts)\n", + " \n", + " \n", + " An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract, the anterior spinocerebellar tract, and the posterior spinocerebellar tract.\n", + " definition of HP:0003133 (Abnormality of the spinocerebellar tracts)\n", + " \n", + " \n", + " Continuous involuntary vocalizations\n", + " definition of HP:0430113 (Continuous involuntary vocalizations)\n", + " \n", + " \n", + " Continuous groaning, moaning, grunting, and shrieking.\n", + " definition of HP:0430113 (Continuous involuntary vocalizations)\n", + " \n", + " \n", + " Retinal infarction\n", + " definition of HP:0007866 (Retinal infarction)\n", + " \n", + " \n", + " Glomerular basement membrane wrinkling\n", + " definition of HP:0033289 (Glomerular basement membrane wrinkling)\n", + " \n", + " \n", + " Irregular folding of the glomerular basement membrane with an intact lamina densa.\n", + " definition of HP:0033289 (Glomerular basement membrane wrinkling)\n", + " \n", + " \n", + " Axillary apocrine gland hypoplasia\n", + " definition of HP:0007397 (Axillary apocrine gland hypoplasia)\n", + " \n", + " \n", + " Developmental hypoplasia of the apocrine sweat glands in the region of the axilla.\n", + " definition of HP:0007397 (Axillary apocrine gland hypoplasia)\n", + " \n", + " \n", + " Anti-histone antibody positivity\n", + " definition of HP:0033558 (Anti-histone antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies in the blood circulation that react against histone antigens.\n", + " definition of HP:0033558 (Anti-histone antibody positivity)\n", + " \n", + " \n", + " Glabellar hemangioma\n", + " definition of HP:0001076 (Glabellar hemangioma)\n", + " \n", + " \n", + " #Glabellar capillary hemangioma\n", + " definition of HP:0001076 (Glabellar hemangioma)\n", + " \n", + " \n", + " Nail bed telangiectasia\n", + " definition of HP:0001232 (Nail bed telangiectasia)\n", + " \n", + " \n", + " Telangiectases in the area of the nails.\n", + " definition of HP:0001232 (Nail bed telangiectasia)\n", + " \n", + " \n", + " #Nail bed telangiectases\n", + " definition of HP:0001232 (Nail bed telangiectasia)\n", + " \n", + " \n", + " Reduced hypoxanthine-guanine phosphoribosyltransferase level\n", + " definition of HP:0031823 (Reduced hypoxanthine-guanine phosphoribosyltransferase level)\n", + " \n", + " \n", + " Abnormally decreased level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate.\n", + " definition of HP:0031823 (Reduced hypoxanthine-guanine phosphoribosyltransferase level)\n", + " \n", + " \n", + " #Reduced 6-hydroxypurine phosphoribosyltransferase level #Reduced 6-mercaptopurine phosphoribosyltransferase level #Reduced GMP pyrophosphorylase level\n", + " definition of HP:0031823 (Reduced hypoxanthine-guanine phosphoribosyltransferase level)\n", + " \n", + " \n", + " Peripheral arteriovenous fistula\n", + " definition of HP:0100784 (Peripheral arteriovenous fistula)\n", + " \n", + " \n", + " Hernia\n", + " definition of HP:0100790 (Hernia)\n", + " \n", + " \n", + " Broad hallux\n", + " definition of HP:0010055 (Broad hallux)\n", + " \n", + " \n", + " Visible increase in width of the hallux without an increase in the dorso-ventral dimension.\n", + " definition of HP:0010055 (Broad hallux)\n", + " \n", + " \n", + " #Abnormally broad great toes #Broad big toe #Broad great toe #Broad great toes #Broad halluces #Wide big toe\n", + " definition of HP:0010055 (Broad hallux)\n", + " \n", + " \n", + " Increased CSF phenylalanine concentration\n", + " definition of HP:0500223 (Increased CSF phenylalanine concentration)\n", + " \n", + " \n", + " Abnormally increased levels of phenylalanine in cerebrospinal fluid.\n", + " definition of HP:0500223 (Increased CSF phenylalanine concentration)\n", + " \n", + " \n", + " #High phenylalanine levels in cerebrospinal fluid\n", + " definition of HP:0500223 (Increased CSF phenylalanine concentration)\n", + " \n", + " \n", + " Exploding head syndrome\n", + " definition of HP:5200290 (Exploding head syndrome)\n", + " \n", + " \n", + " Sleep disorder in which one hears a loud noise or explosive crashing sound in their head. The sound is not real or heard by anyone else. The episode typically happens suddenly, either when beginning to fall asleep or when waking up during the night.\n", + " definition of HP:5200290 (Exploding head syndrome)\n", + " \n", + " \n", + " Proportionate tall stature\n", + " definition of HP:0011407 (Proportionate tall stature)\n", + " \n", + " \n", + " Uterine neoplasm\n", + " definition of HP:0010784 (Uterine neoplasm)\n", + " \n", + " \n", + " A tumor (abnormal growth of tissue) of the uterus.\n", + " definition of HP:0010784 (Uterine neoplasm)\n", + " \n", + " \n", + " #Uterine tumor #Uterine tumour\n", + " definition of HP:0010784 (Uterine neoplasm)\n", + " \n", + " \n", + " High, narrow palate\n", + " definition of HP:0002705 (High, narrow palate)\n", + " \n", + " \n", + " The presence of a high and narrow palate.\n", + " definition of HP:0002705 (High, narrow palate)\n", + " \n", + " \n", + " #Gothic palate #High narrow palate #High vaulted palate #High, narrow palate #Narrow and high arched palate #Narrow, high-arched palate #Narrow, high-arched roof of mouth #Narrow, highly arched palate #Narrow, highly arched roof of mouth\n", + " definition of HP:0002705 (High, narrow palate)\n", + " \n", + " \n", + " Enlarged epiphysis of the 1st metatarsal\n", + " definition of HP:0010152 (Enlarged epiphysis of the 1st metatarsal)\n", + " \n", + " \n", + " #Enlarged end part of the 1st long bone of foot\n", + " definition of HP:0010152 (Enlarged epiphysis of the 1st metatarsal)\n", + " \n", + " \n", + " Neuropathic arthropathy\n", + " definition of HP:0002821 (Neuropathic arthropathy)\n", + " \n", + " \n", + " #Charcot arthropathy #Charcot joint\n", + " definition of HP:0002821 (Neuropathic arthropathy)\n", + " \n", + " \n", + " Premature ejaculation\n", + " definition of HP:0012876 (Premature ejaculation)\n", + " \n", + " \n", + " The emission of semen and seminal fluid during the act of preparation for sexual intercourse, i.e. before there is penetration, or shortly after penetration.\n", + " definition of HP:0012876 (Premature ejaculation)\n", + " \n", + " \n", + " #Premature ejaculation\n", + " definition of HP:0012876 (Premature ejaculation)\n", + " \n", + " \n", + " Distended jugular lymphatic sacs\n", + " definition of HP:0025701 (Distended jugular lymphatic sacs)\n", + " \n", + " \n", + " The jugular lymphatic sacs (JLS) are a physiological and temporary part of fetal lymphatic development. They are formed from small buds of lymphatic endothelial cells arising from the internal jugular veins. By 14 weeks gestation they have developed into lymphatic nodes which drain into the systemic circulation. Visibility of JLS on ultrasound past 14 weeks of gestation implies distension and this may be associated with raised nuchal translucency.\n", + " definition of HP:0025701 (Distended jugular lymphatic sacs)\n", + " \n", + " \n", + " Knee dislocation\n", + " definition of HP:0004976 (Knee dislocation)\n", + " \n", + " \n", + " #Dislocations of the knees #Knee dislocations\n", + " definition of HP:0004976 (Knee dislocation)\n", + " \n", + " \n", + " Hallux rigidus\n", + " definition of HP:0025004 (Hallux rigidus)\n", + " \n", + " \n", + " Osteoarthritis of the metatarsophalangeal joint of the first toe.\n", + " definition of HP:0025004 (Hallux rigidus)\n", + " \n", + " \n", + " #Arthritis of the big toe\n", + " definition of HP:0025004 (Hallux rigidus)\n", + " \n", + " \n", + " Chronic fatigue\n", + " definition of HP:0012432 (Chronic fatigue)\n", + " \n", + " \n", + " Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer.\n", + " definition of HP:0012432 (Chronic fatigue)\n", + " \n", + " \n", + " #Chronic extreme exhaustion #Chronic fatigue\n", + " definition of HP:0012432 (Chronic fatigue)\n", + " \n", + " \n", + " Anti-Dengue virus antibody positivity\n", + " definition of HP:0430082 (Anti-Dengue virus antibody positivity)\n", + " \n", + " \n", + " The presence of antibodies in the blood circulation that react against a component of Dengue virus.\n", + " definition of HP:0430082 (Anti-Dengue virus antibody positivity)\n", + " \n", + " \n", + " #Dengue antibody titer high in blood\n", + " definition of HP:0430082 (Anti-Dengue virus antibody positivity)\n", + " \n", + " \n", + " Fractured fibula\n", + " definition of HP:0041222 (Fractured fibula)\n", + " \n", + " \n", + " A partial or complete breakage of the fibula.\n", + " definition of HP:0041222 (Fractured fibula)\n", + " \n", + " \n", + " #bone fibula #Broken fibula #Fibula fracture #Fracture of the fibula\n", + " definition of HP:0041222 (Fractured fibula)\n", + " \n", + " \n", + " Tactile hallucination\n", + " definition of HP:0033694 (Tactile hallucination)\n", + " \n", + " \n", + " Perception of touch without a tactile stimulus.\n", + " definition of HP:0033694 (Tactile hallucination)\n", + " \n", + " \n", + " #Tactile hallucinations\n", + " definition of HP:0033694 (Tactile hallucination)\n", + " \n", + " \n", + " Enlarged cisterna magna\n", + " definition of HP:0002280 (Enlarged cisterna magna)\n", + " \n", + " \n", + " Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata.\n", + " definition of HP:0002280 (Enlarged cisterna magna)\n", + " \n", + " \n", + " #Large cisterna magna\n", + " definition of HP:0002280 (Enlarged cisterna magna)\n", + " \n", + " \n", + " Prominent superficial blood vessels\n", + " definition of HP:0007394 (Prominent superficial blood vessels)\n", + " \n", + " \n", + " #Prominent superficial blood vessels #Prominent superficial vasculature\n", + " definition of HP:0007394 (Prominent superficial blood vessels)\n", + " \n", + " \n", + " Gastric ulcer\n", + " definition of HP:0002592 (Gastric ulcer)\n", + " \n", + " \n", + " An ulcer, that is, an erosion of an area of the gastric mucous membrane.\n", + " definition of HP:0002592 (Gastric ulcer)\n", + " \n", + " \n", + " #Stomach ulcer\n", + " definition of HP:0002592 (Gastric ulcer)\n", + " \n", + " \n", + " Narrow foramen obturatorium\n", + " definition of HP:0100958 (Narrow foramen obturatorium)\n", + " \n", + " \n", + " Decreased width of the foramen obturatorium. The foramen obturatorium (also known as the obturator foramen) is a hole located between the ischium and pubis bones of the pelvis.\n", + " definition of HP:0100958 (Narrow foramen obturatorium)\n", + " \n", + " \n", + " Fragmentation of the epiphysis of the middle phalanx of the 5th toe\n", + " definition of HP:0100217 (Fragmentation of the epiphysis of the middle phalanx of the 5th toe)\n", + " \n", + " \n", + " #Fragmentation of the end part of the middle bone of the little toe #Fragmentation of the end part of the middle bone of the pinkie toe #Fragmentation of the end part of the middle bone of the pinky toe\n", + " definition of HP:0100217 (Fragmentation of the epiphysis of the middle phalanx of the 5th toe)\n", + " \n", + " \n", + " Pallor\n", + " definition of HP:0000980 (Pallor)\n", + " \n", + " \n", + " Abnormally pale skin.\n", + " definition of HP:0000980 (Pallor)\n", + " \n", + " \n", + " Glomerular fibrinoid necrosis\n", + " definition of HP:0033277 (Glomerular fibrinoid necrosis)\n", + " \n", + " \n", + " Fibrin associated with glomerular basement membrane disruption and/or lysis of the mesangial matrix; this lesion does not require the presence of karyorrhexis.\n", + " definition of HP:0033277 (Glomerular fibrinoid necrosis)\n", + " \n", + " \n", + " Abnormality of foveal pigmentation\n", + " definition of HP:0030493 (Abnormality of foveal pigmentation)\n", + " \n", + " \n", + " An anomaly of the pigmentation in the fovea centralis.\n", + " definition of HP:0030493 (Abnormality of foveal pigmentation)\n", + " \n", + " \n", + " Lower limb hypertonia\n", + " definition of HP:0006895 (Lower limb hypertonia)\n", + " \n", + " \n", + " Fractured metatarsal bone of digit 4\n", + " definition of HP:0041230 (Fractured metatarsal bone of digit 4)\n", + " \n", + " \n", + " A partial or complete breakage of the metatarsal bone of digit 4.\n", + " definition of HP:0041230 (Fractured metatarsal bone of digit 4)\n", + " \n", + " \n", + " #bone metatarsal bone of digit 4\n", + " definition of HP:0041230 (Fractured metatarsal bone of digit 4)\n", + " \n", + " \n", + " 1-5 finger cutaneous syndactyly\n", + " definition of HP:0010708 (1-5 finger cutaneous syndactyly)\n", + " \n", + " \n", + " A soft tissue continuity in the anteroposterior axis between the thumb to the little finger that extends distally to at least the level of the proximal interphalangeal joints (complete syndactyly of all fingers of the hand).\n", + " definition of HP:0010708 (1-5 finger cutaneous syndactyly)\n", + " \n", + " \n", + " #Webbed 1-5 fingers #Webbed 1st-5th fingers\n", + " definition of HP:0010708 (1-5 finger cutaneous syndactyly)\n", + " \n", + " \n", + " Congenital malformation of the left heart\n", + " definition of HP:0045017 (Congenital malformation of the left heart)\n", + " \n", + " \n", + " Defect or defects of the morphogenesis of the left heart identifiable at birth.\n", + " definition of HP:0045017 (Congenital malformation of the left heart)\n", + " \n", + " \n", + " Cerebellar hemangioblastoma\n", + " definition of HP:0006880 (Cerebellar hemangioblastoma)\n", + " \n", + " \n", + " A hemangioblastoma of the cerebellum.\n", + " definition of HP:0006880 (Cerebellar hemangioblastoma)\n", + " \n", + " \n", + " #Hemangioblastoma, sporadic cerebellar\n", + " definition of HP:0006880 (Cerebellar hemangioblastoma)\n", + " \n", + " \n", + " Hyperpigmented genitalia\n", + " definition of HP:0030258 (Hyperpigmented genitalia)\n", + " \n", + " \n", + " Localized or generalized increased genital pigmentation.\n", + " definition of HP:0030258 (Hyperpigmented genitalia)\n", + " \n", + " \n", + " #Increased genital pigmentation\n", + " definition of HP:0030258 (Hyperpigmented genitalia)\n", + " \n", + " \n", + " Glenoid fracture\n", + " definition of HP:0034500 (Glenoid fracture)\n", + " \n", + " \n", + " A fracture of the glenoid fossa, a relatively shallow dish is located on the lateral scapula and is the socket portion of the shoulder joint that meets to articulate the humeral head.\n", + " definition of HP:0034500 (Glenoid fracture)\n", + " \n", + " \n", + " Cementoma\n", + " definition of HP:0012328 (Cementoma)\n", + " \n", + " \n", + " An odontogenic tumor of the cementum of tooth.\n", + " definition of HP:0012328 (Cementoma)\n", + " \n", + " \n", + " Abnormal circulating bilirubin concentration\n", + " definition of HP:0033479 (Abnormal circulating bilirubin concentration)\n", + " \n", + " \n", + " Oral cavity telangiectasia\n", + " definition of HP:0000228 (Oral cavity telangiectasia)\n", + " \n", + " \n", + " Presence of telangiectases in the oral cavity.\n", + " definition of HP:0000228 (Oral cavity telangiectasia)\n", + " \n", + " \n", + " #Oral cavity teleangiectasia\n", + " definition of HP:0000228 (Oral cavity telangiectasia)\n", + " \n", + " \n", + " Decreased circulating complement C7 concentration\n", + " definition of HP:0033058 (Decreased circulating complement C7 concentration)\n", + " \n", + " \n", + " Concentration of the complement component C7 in the blood circulation below the lower limit of normal.\n", + " definition of HP:0033058 (Decreased circulating complement C7 concentration)\n", + " \n", + " \n", + " #Decreased serum complement C7\n", + " definition of HP:0033058 (Decreased circulating complement C7 concentration)\n", + " \n", + " \n", + " Fusion of gums\n", + " definition of HP:0012292 (Fusion of gums)\n", + " \n", + " \n", + " A congenital defect with an abnormal joining of the gums of the upper and lower jaw.\n", + " definition of HP:0012292 (Fusion of gums)\n", + " \n", + " \n", + " #Fusion of gums #Fusion of the gingiva #Gingival synechia #Partial fusion of the gums #Synechia of the gums #Upper and lower gums fused together\n", + " definition of HP:0012292 (Fusion of gums)\n", + " \n", + " \n", + " Broad middle phalanx of the 4th toe\n", + " definition of HP:0100426 (Broad middle phalanx of the 4th toe)\n", + " \n", + " \n", + " #Broad middle 4th toe bone\n", + " definition of HP:0100426 (Broad middle phalanx of the 4th toe)\n", + " \n", + " \n", + " Elevated circulating uroporphyrin concentration\n", + " definition of HP:0034905 (Elevated circulating uroporphyrin concentration)\n", + " \n", + " \n", + " Concentration of uroporphyrin in the blood circulation above the upper limit of normal.\n", + " definition of HP:0034905 (Elevated circulating uroporphyrin concentration)\n", + " \n", + " \n", + " Reticulonodular pattern on pulmonary HRCT\n", + " definition of HP:0025393 (Reticulonodular pattern on pulmonary HRCT)\n", + " \n", + " \n", + " Co-occurrence of reticular and micronodular patterns on pulmonary high-resolution computed tomography.\n", + " definition of HP:0025393 (Reticulonodular pattern on pulmonary HRCT)\n", + " \n", + " \n", + " Abnormal testis morphology\n", + " definition of HP:0000035 (Abnormal testis morphology)\n", + " \n", + " \n", + " An anomaly of the testicle (the male gonad).\n", + " definition of HP:0000035 (Abnormal testis morphology)\n", + " \n", + " \n", + " #Abnormality of the testis #Anomaly of the testes\n", + " definition of HP:0000035 (Abnormal testis morphology)\n", + " \n", + " \n", + " Contact lens wearer\n", + " definition of HP:6000098 (Contact lens wearer)\n", + " \n", + " \n", + " A past medical history of wearing contact lenses.\n", + " definition of HP:6000098 (Contact lens wearer)\n", + " \n", + " \n", + " Abnormal germ cell morphology\n", + " definition of HP:0012862 (Abnormal germ cell morphology)\n", + " \n", + " \n", + " Any structural anomaly of a reproductive cell.\n", + " definition of HP:0012862 (Abnormal germ cell morphology)\n", + " \n", + " \n", + " #Abnormal shape of a reproductive cell #Abnormally shaped germ cell #Abnormally shaped reproductive cell\n", + " definition of HP:0012862 (Abnormal germ cell morphology)\n", + " \n", + " \n", + " Delayed onset bleeding\n", + " definition of HP:0040232 (Delayed onset bleeding)\n", + " \n", + " \n", + " Abnormal bleeding related to a procedure or trauma which does not start at the time of the initial insult, but after delay by at least 24 hours.\n", + " definition of HP:0040232 (Delayed onset bleeding)\n", + " \n", + " \n", + " Triangular shaped phalanges of the hallux\n", + " definition of HP:0010065 (Triangular shaped phalanges of the hallux)\n", + " \n", + " \n", + " #Triangular shaped bones of big toe\n", + " definition of HP:0010065 (Triangular shaped phalanges of the hallux)\n", + " \n", + " \n", + " Anti-GD1a antibody positivity\n", + " definition of HP:0034121 (Anti-GD1a antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside D1a.\n", + " definition of HP:0034121 (Anti-GD1a antibody positivity)\n", + " \n", + " \n", + " Bracket epiphyses of the 3rd finger\n", + " definition of HP:0009411 (Bracket epiphyses of the 3rd finger)\n", + " \n", + " \n", + " An abnormality of the third finger in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.\n", + " definition of HP:0009411 (Bracket epiphyses of the 3rd finger)\n", + " \n", + " \n", + " #Bracket shaped end part of middle finger bone\n", + " definition of HP:0009411 (Bracket epiphyses of the 3rd finger)\n", + " \n", + " \n", + " Bronchial papilloma\n", + " definition of HP:0033002 (Bronchial papilloma)\n", + " \n", + " \n", + " A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on a bronchus.\n", + " definition of HP:0033002 (Bronchial papilloma)\n", + " \n", + " \n", + " Tibial deviation of the 3rd toe\n", + " definition of HP:0100343 (Tibial deviation of the 3rd toe)\n", + " \n", + " \n", + " Biliary tract neoplasm\n", + " definition of HP:0100574 (Biliary tract neoplasm)\n", + " \n", + " \n", + " A tumor (abnormal growth of tissue) of the biliary system.\n", + " definition of HP:0100574 (Biliary tract neoplasm)\n", + " \n", + " \n", + " Factor X activation deficiency\n", + " definition of HP:0008354 (Factor X activation deficiency)\n", + " \n", + " \n", + " Reduced ability to transform factor X into its activated form factor Xa.\n", + " definition of HP:0008354 (Factor X activation deficiency)\n", + " \n", + " \n", + " Symphalangism affecting the proximal phalanx of the hallux\n", + " definition of HP:0010091 (Symphalangism affecting the proximal phalanx of the hallux)\n", + " \n", + " \n", + " #Fused innermost bone of big toe\n", + " definition of HP:0010091 (Symphalangism affecting the proximal phalanx of the hallux)\n", + " \n", + " \n", + " Abnormal bronchial artery morphology\n", + " definition of HP:0033388 (Abnormal bronchial artery morphology)\n", + " \n", + " \n", + " Any structural abnormality of a bronchial artery.\n", + " definition of HP:0033388 (Abnormal bronchial artery morphology)\n", + " \n", + " \n", + " Pancreatic alpha-cell hyperplasia\n", + " definition of HP:4000061 (Pancreatic alpha-cell hyperplasia)\n", + " \n", + " \n", + " A diffuse and specific increase in the number of alpha-cells.\n", + " definition of HP:4000061 (Pancreatic alpha-cell hyperplasia)\n", + " \n", + " \n", + " Livedo reticularis\n", + " definition of HP:0033505 (Livedo reticularis)\n", + " \n", + " \n", + " Livedo reticularis is characterized by the presence of a bluish purple, mottled or netlike pattern in unbroken circles on the skin. Exposure to cold environments usually intensifies the vascular pattern. Presumably, the condition results from slow or stagnant blood flow, vessel-wall pathology, and decreased oxygen tension.\n", + " definition of HP:0033505 (Livedo reticularis)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the distal phalanx of the hallux\n", + " definition of HP:0010076 (Aplasia/Hypoplasia of the distal phalanx of the hallux)\n", + " \n", + " \n", + " #Absent/small outermost big toe bone #Absent/underdeveloped outermost big toe bone\n", + " definition of HP:0010076 (Aplasia/Hypoplasia of the distal phalanx of the hallux)\n", + " \n", + " \n", + " Entropion\n", + " definition of HP:0000621 (Entropion)\n", + " \n", + " \n", + " An abnormal inversion (turning inward) of the eyelid (usually the lower) towards the globe. Entropion is usually acquired as a result of involutional or cicatricial processes but may occasionally be congenital.\n", + " definition of HP:0000621 (Entropion)\n", + " \n", + " \n", + " #Eyelid turned in\n", + " definition of HP:0000621 (Entropion)\n", + " \n", + " \n", + " Aplasia of the vagina\n", + " definition of HP:0003250 (Aplasia of the vagina)\n", + " \n", + " \n", + " Aplasia of the vagina.\n", + " definition of HP:0003250 (Aplasia of the vagina)\n", + " \n", + " \n", + " #Absent vagina #Congenital absence of the vagina\n", + " definition of HP:0003250 (Aplasia of the vagina)\n", + " \n", + " \n", + " Increased megakaryocyte colony forming unit count\n", + " definition of HP:0034010 (Increased megakaryocyte colony forming unit count)\n", + " \n", + " \n", + " Increased numbers of megakryocyte precursors (megakaryocyte colony forming units) in the bone marrow.\n", + " definition of HP:0034010 (Increased megakaryocyte colony forming unit count)\n", + " \n", + " \n", + " Desquamative interstitial pneumonitis\n", + " definition of HP:0005942 (Desquamative interstitial pneumonitis)\n", + " \n", + " \n", + " Diffuse filling of the distal airspaces of the lungs, the alveoli, with macrophages. Desquamative interstitial pneumonitis (DIP) is characterized additionally by thickened alveolar septa and by a sparse inflammatory infiltrate that often includes plasma cells and occasional eosinophils. The alveoli are lined by plump cuboidal pneumocytes. Lymphoid aggregates may be present.\n", + " definition of HP:0005942 (Desquamative interstitial pneumonitis)\n", + " \n", + " \n", + " #Filling of the alveoli with alveolar macrophages\n", + " definition of HP:0005942 (Desquamative interstitial pneumonitis)\n", + " \n", + " \n", + " Interface hepatitis\n", + " definition of HP:0032220 (Interface hepatitis)\n", + " \n", + " \n", + " Inflammation of the liver characterized by a mononuclear cell infiltrate whereby portal inflammatory cells extend through the limiting plate between the portal tract and liver parenchyma.\n", + " definition of HP:0032220 (Interface hepatitis)\n", + " \n", + " \n", + " Abnormality of levator labii superioris alaeque nasi muscle\n", + " definition of HP:0430020 (Abnormality of levator labii superioris alaeque nasi muscle)\n", + " \n", + " \n", + " An abnormality of the levator labii superioris alaeque nasi muscle.\n", + " definition of HP:0430020 (Abnormality of levator labii superioris alaeque nasi muscle)\n", + " \n", + " \n", + " Sclerosis of middle finger phalanx\n", + " definition of HP:0100916 (Sclerosis of middle finger phalanx)\n", + " \n", + " \n", + " An elevation in bone density in one or more middle phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity.\n", + " definition of HP:0100916 (Sclerosis of middle finger phalanx)\n", + " \n", + " \n", + " #Increased bone density in middle finger bone of hand #Sclerosis of the middle phalanges of the hand\n", + " definition of HP:0100916 (Sclerosis of middle finger phalanx)\n", + " \n", + " \n", + " Growth without growth hormone\n", + " definition of HP:0033795 (Growth without growth hormone)\n", + " \n", + " \n", + " Floral-pattern lymph node follicles\n", + " definition of HP:0020243 (Floral-pattern lymph node follicles)\n", + " \n", + " \n", + " Atypical lymph node follicles that have mantle zone cells invaginating/infiltrating into the follicle centers, which is said to confer a flower-like appearance.\n", + " definition of HP:0020243 (Floral-pattern lymph node follicles)\n", + " \n", + " \n", + " #Floral follicular lymph node architecture #Floral growth pattern\n", + " definition of HP:0020243 (Floral-pattern lymph node follicles)\n", + " \n", + " \n", + " Increased glucose-6-phosphate dehydrogenase level in blood\n", + " definition of HP:0410178 (Increased glucose-6-phosphate dehydrogenase level in blood)\n", + " \n", + " \n", + " An increase in the level of glucose-6-phosphate dehydrogenase in the blood.\n", + " definition of HP:0410178 (Increased glucose-6-phosphate dehydrogenase level in blood)\n", + " \n", + " \n", + " #Increased G6PD level in blood\n", + " definition of HP:0410178 (Increased glucose-6-phosphate dehydrogenase level in blood)\n", + " \n", + " \n", + " Anti-mitochondrial M2 antibody positivity\n", + " definition of HP:0031907 (Anti-mitochondrial M2 antibody positivity)\n", + " \n", + " \n", + " The presence of M2 anti-mitochondrial antibody (immunoglobulins) in the serum.\n", + " definition of HP:0031907 (Anti-mitochondrial M2 antibody positivity)\n", + " \n", + " \n", + " #AMA-M2 positive\n", + " definition of HP:0031907 (Anti-mitochondrial M2 antibody positivity)\n", + " \n", + " \n", + " Enlarged epiphysis of the proximal phalanx of the 3rd toe\n", + " definition of HP:0100160 (Enlarged epiphysis of the proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Enlarged end part of the innermost bone of the 3rd toe\n", + " definition of HP:0100160 (Enlarged epiphysis of the proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Abnormal circulating gonadotropin concentration\n", + " definition of HP:0030338 (Abnormal circulating gonadotropin concentration)\n", + " \n", + " \n", + " An anomaly of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH).\n", + " definition of HP:0030338 (Abnormal circulating gonadotropin concentration)\n", + " \n", + " \n", + " #Abnormal circulating gonadotropin level\n", + " definition of HP:0030338 (Abnormal circulating gonadotropin concentration)\n", + " \n", + " \n", + " Chapped lip\n", + " definition of HP:0040181 (Chapped lip)\n", + " \n", + " \n", + " Cracking, fissuring, and peeling of the skin of the lips.\n", + " definition of HP:0040181 (Chapped lip)\n", + " \n", + " \n", + " #Chapped lip #Chapped lips #Cheilitis simplex #Common cheilitis #Dry lips\n", + " definition of HP:0040181 (Chapped lip)\n", + " \n", + " \n", + " Stage 5 chronic kidney disease\n", + " definition of HP:0003774 (Stage 5 chronic kidney disease)\n", + " \n", + " \n", + " A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.\n", + " definition of HP:0003774 (Stage 5 chronic kidney disease)\n", + " \n", + " \n", + " #Chronic renal failure #End stage renal disease #End stage renal failure #End-stage renal disease #End-stage renal failure #Stage 5 chronic kidney disease\n", + " definition of HP:0003774 (Stage 5 chronic kidney disease)\n", + " \n", + " \n", + " Extrapyramidal dyskinesia\n", + " definition of HP:0007308 (Extrapyramidal dyskinesia)\n", + " \n", + " \n", + " Cerebellar hemorrhage\n", + " definition of HP:0011695 (Cerebellar hemorrhage)\n", + " \n", + " \n", + " Hemorrhage into the parenchyma of the cerebellum.\n", + " definition of HP:0011695 (Cerebellar hemorrhage)\n", + " \n", + " \n", + " #Cerebellar haemorrhage\n", + " definition of HP:0011695 (Cerebellar hemorrhage)\n", + " \n", + " \n", + " Abnormal upper lip morphology\n", + " definition of HP:0000177 (Abnormal upper lip morphology)\n", + " \n", + " \n", + " An abnormality of the upper lip.\n", + " definition of HP:0000177 (Abnormal upper lip morphology)\n", + " \n", + " \n", + " #Abnormality of upper lip\n", + " definition of HP:0000177 (Abnormal upper lip morphology)\n", + " \n", + " \n", + " Decreased pulmonary fissure count\n", + " definition of HP:0032995 (Decreased pulmonary fissure count)\n", + " \n", + " \n", + " Lack of one or more of the normal pulmonary fissures.\n", + " definition of HP:0032995 (Decreased pulmonary fissure count)\n", + " \n", + " \n", + " #Reduced pulmonary fissure count\n", + " definition of HP:0032995 (Decreased pulmonary fissure count)\n", + " \n", + " \n", + " Posterior fossa cyst\n", + " definition of HP:0007291 (Posterior fossa cyst)\n", + " \n", + " \n", + " A discrete posterior fossa cerebrospinal fluid (CSF) collection that does not communicate directly with the fourth ventricle.\n", + " definition of HP:0007291 (Posterior fossa cyst)\n", + " \n", + " \n", + " Cone-shaped epiphysis of the proximal phalanx of the thumb\n", + " definition of HP:0009666 (Cone-shaped epiphysis of the proximal phalanx of the thumb)\n", + " \n", + " \n", + " A cone-shaped appearance of the epiphysis of the proximal phalanx of the thumb of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.\n", + " definition of HP:0009666 (Cone-shaped epiphysis of the proximal phalanx of the thumb)\n", + " \n", + " \n", + " #Cone-shaped end part of thumb innermost long bone\n", + " definition of HP:0009666 (Cone-shaped epiphysis of the proximal phalanx of the thumb)\n", + " \n", + " \n", + " Reduced proportion of mucosal-associated invariant T cells\n", + " definition of HP:4000039 (Reduced proportion of mucosal-associated invariant T cells)\n", + " \n", + " \n", + " A decreased proportion of circulating mucosal-associated invariant T (MAIT) cells relative to total T cell count.\n", + " definition of HP:4000039 (Reduced proportion of mucosal-associated invariant T cells)\n", + " \n", + " \n", + " Juvenile nasopharyngeal angiofibroma\n", + " definition of HP:0030429 (Juvenile nasopharyngeal angiofibroma)\n", + " \n", + " \n", + " A benign but highly vascular nasopharyngeal neoplasm. The tumor originates from the sphenopalatine foramen and involves both the pterygopalatine fossa and the posterior nasal cavity.\n", + " definition of HP:0030429 (Juvenile nasopharyngeal angiofibroma)\n", + " \n", + " \n", + " Elevated urine 2-hydroxy-3-methylvaleric acid level\n", + " definition of HP:0034664 (Elevated urine 2-hydroxy-3-methylvaleric acid level)\n", + " \n", + " \n", + " Amount of 2-hydroxy-3-methylvaleric acid in the urine above the upper limit of normal. 2-Hydroxy-3-methylpentanoic acid or 2-hydroxy-3-methylvaleric acid (HMVA) is an organic acid generated by L-isoleucine metabolism.\n", + " definition of HP:0034664 (Elevated urine 2-hydroxy-3-methylvaleric acid level)\n", + " \n", + " \n", + " #2-hydroxy-3-methylvaleric acid high in urine\n", + " definition of HP:0034664 (Elevated urine 2-hydroxy-3-methylvaleric acid level)\n", + " \n", + " \n", + " Eosinophilic bladder infiltration\n", + " definition of HP:0032020 (Eosinophilic bladder infiltration)\n", + " \n", + " \n", + " Transmural inflammation of the bladder predominantly with eosinophils, associated with fibrosis with or without muscle necrosis.\n", + " definition of HP:0032020 (Eosinophilic bladder infiltration)\n", + " \n", + " \n", + " #Eosinophilic cystitis\n", + " definition of HP:0032020 (Eosinophilic bladder infiltration)\n", + " \n", + " \n", + " Cardiac total anomalous pulmonary venous connection\n", + " definition of HP:0011720 (Cardiac total anomalous pulmonary venous connection)\n", + " \n", + " \n", + " Type 2 total anomalous pulmonary venous connection.\n", + " definition of HP:0011720 (Cardiac total anomalous pulmonary venous connection)\n", + " \n", + " \n", + " #Cardiac total anomalous pulmonary venous connexion #Total anomalous pulmonary venous connection, intracardiac #Type 2 total anomalous pulmonary venous connection\n", + " definition of HP:0011720 (Cardiac total anomalous pulmonary venous connection)\n", + " \n", + " \n", + " Chronic\n", + " definition of HP:0011010 (Chronic)\n", + " \n", + " \n", + " Slow, creeping onset, slow progress and long continuance of disease manifestations.\n", + " definition of HP:0011010 (Chronic)\n", + " \n", + " \n", + " #Chronic\n", + " definition of HP:0011010 (Chronic)\n", + " \n", + " \n", + " Reduced kininogen activity\n", + " definition of HP:0005527 (Reduced kininogen activity)\n", + " \n", + " \n", + " Reduction in the amount of kininogen, which functions as a cofactor in the contact phase of the intrinsic blood coagulation cascade.\n", + " definition of HP:0005527 (Reduced kininogen activity)\n", + " \n", + " \n", + " #Fitzgerald factor deficiency #Kininogen deficiency #Williams factor deficiency #Williams-Fitzgerald-Flaujeac factor deficiency\n", + " definition of HP:0005527 (Reduced kininogen activity)\n", + " \n", + " \n", + " Downturned corners of mouth\n", + " definition of HP:0002714 (Downturned corners of mouth)\n", + " \n", + " \n", + " A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure.\n", + " definition of HP:0002714 (Downturned corners of mouth)\n", + " \n", + " \n", + " #Downturned corners of mouth #Downturned corners of the mouth #Downturned mouth #Downturned oral commisures\n", + " definition of HP:0002714 (Downturned corners of mouth)\n", + " \n", + " \n", + " Nontuberculous mycobacterial pulmonary infection\n", + " definition of HP:0032261 (Nontuberculous mycobacterial pulmonary infection)\n", + " \n", + " \n", + " An infection of the lung caused by environmental mycobacteria. Such infections can occur in individuals with predisposing lung disease or immune disease.\n", + " definition of HP:0032261 (Nontuberculous mycobacterial pulmonary infection)\n", + " \n", + " \n", + " Cerebral degeneration\n", + " definition of HP:0007313 (Cerebral degeneration)\n", + " \n", + " \n", + " #Neuroaxonal degeneration in the brain\n", + " definition of HP:0007313 (Cerebral degeneration)\n", + " \n", + " \n", + " Decreased sialylation of N-linked protein glycosylation\n", + " definition of HP:0012350 (Decreased sialylation of N-linked protein glycosylation)\n", + " \n", + " \n", + " Decreased addition of sialic acids to N-linked glycans.\n", + " definition of HP:0012350 (Decreased sialylation of N-linked protein glycosylation)\n", + " \n", + " \n", + " Decreased glucose-6-phosphate dehydrogenase level in tissue\n", + " definition of HP:0410187 (Decreased glucose-6-phosphate dehydrogenase level in tissue)\n", + " \n", + " \n", + " A decrease in the level of glucose-6-phosphate dehydrogenase in tissue.\n", + " definition of HP:0410187 (Decreased glucose-6-phosphate dehydrogenase level in tissue)\n", + " \n", + " \n", + " #Decreased G6PD level in tissue\n", + " definition of HP:0410187 (Decreased glucose-6-phosphate dehydrogenase level in tissue)\n", + " \n", + " \n", + " Increased urinary mucus\n", + " definition of HP:0032068 (Increased urinary mucus)\n", + " \n", + " \n", + " An increased amount of urinary mucus. A small amount of mucus is produced by mucous membrane epithelial cells of the urinary tract. An increased amount of mucus can be detected upon urinalysis or other assays and may indicate conditions such as urinary tract infection, urinary tract reconstruction involving the use of bowel segments, or contamination of the urine sample prior to urinalysis.\n", + " definition of HP:0032068 (Increased urinary mucus)\n", + " \n", + " \n", + " Hypomanganesemia\n", + " definition of HP:0032098 (Hypomanganesemia)\n", + " \n", + " \n", + " A reduction below the normal concentration of manganese in the blood.\n", + " definition of HP:0032098 (Hypomanganesemia)\n", + " \n", + " \n", + " Triggered by succinylcholine anesthetic\n", + " definition of HP:0034631 (Triggered by succinylcholine anesthetic)\n", + " \n", + " \n", + " Applies to a sign or symptom that is provoked or brought about by exposure to a succinylcholine anesthetic such as suxamethonium.\n", + " definition of HP:0034631 (Triggered by succinylcholine anesthetic)\n", + " \n", + " \n", + " Bifid proximal phalanx of the thumb\n", + " definition of HP:0009614 (Bifid proximal phalanx of the thumb)\n", + " \n", + " \n", + " This term applies if the proximal phalanx of the thumb is partially duplicated. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits.\n", + " definition of HP:0009614 (Bifid proximal phalanx of the thumb)\n", + " \n", + " \n", + " #Notched thumb bone\n", + " definition of HP:0009614 (Bifid proximal phalanx of the thumb)\n", + " \n", + " \n", + " Kidney teratoma\n", + " definition of HP:0034564 (Kidney teratoma)\n", + " \n", + " \n", + " A teratoma located in a kidney.\n", + " definition of HP:0034564 (Kidney teratoma)\n", + " \n", + " \n", + " Bullet-shaped middle phalanx of the 5th finger\n", + " definition of HP:0009168 (Bullet-shaped middle phalanx of the 5th finger)\n", + " \n", + " \n", + " Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 5th finger is affected.\n", + " definition of HP:0009168 (Bullet-shaped middle phalanx of the 5th finger)\n", + " \n", + " \n", + " #Bullet-shaped middle little finger bone #Bullet-shaped middle pinkie finger bone #Bullet-shaped middle pinky finger bone\n", + " definition of HP:0009168 (Bullet-shaped middle phalanx of the 5th finger)\n", + " \n", + " \n", + " Renal angiomyolipoma\n", + " definition of HP:0006772 (Renal angiomyolipoma)\n", + " \n", + " \n", + " A benign renal neoplasm composed of fat, vascular, and smooth muscle elements.\n", + " definition of HP:0006772 (Renal angiomyolipoma)\n", + " \n", + " \n", + " #Angiomyolipoma #Kidney angiomyolipoma\n", + " definition of HP:0006772 (Renal angiomyolipoma)\n", + " \n", + " \n", + " Macrocytic anemia\n", + " definition of HP:0001972 (Macrocytic anemia)\n", + " \n", + " \n", + " A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH).\n", + " definition of HP:0001972 (Macrocytic anemia)\n", + " \n", + " \n", + " #Macrocytic anaemia\n", + " definition of HP:0001972 (Macrocytic anemia)\n", + " \n", + " \n", + " Peribronchovascular interstitial thickening\n", + " definition of HP:0025177 (Peribronchovascular interstitial thickening)\n", + " \n", + " \n", + " Thickening of the peribronchovascular interstitium, a connective tissue sheath that surrounds the central bronchi and pulmonary arteries. The peribronchovascular interstitium extends from the level of the pulmonary hila into the peripheral lung. This feature may be ascertained on high-resolution computer tomography.\n", + " definition of HP:0025177 (Peribronchovascular interstitial thickening)\n", + " \n", + " \n", + " Abnormal proportion of central memory CD8-positive, alpha-beta T cells\n", + " definition of HP:0410384 (Abnormal proportion of central memory CD8-positive, alpha-beta T cells)\n", + " \n", + " \n", + " An abnormal proportion of central memory CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.\n", + " definition of HP:0410384 (Abnormal proportion of central memory CD8-positive, alpha-beta T cells)\n", + " \n", + " \n", + " Herpetiform\n", + " definition of HP:0025295 (Herpetiform)\n", + " \n", + " \n", + " Applies to an abnormality whose distribution and appearance resembles that of the grouped umbilicated vesicles seen in herpes simplex and herpes zoster infections.\n", + " definition of HP:0025295 (Herpetiform)\n", + " \n", + " \n", + " Cytomegalovirus colitis\n", + " definition of HP:0033431 (Cytomegalovirus colitis)\n", + " \n", + " \n", + " A form of cytomegalovirus infection characterized by infection and inflammation of the colon.\n", + " definition of HP:0033431 (Cytomegalovirus colitis)\n", + " \n", + " \n", + " #CMV colitis\n", + " definition of HP:0033431 (Cytomegalovirus colitis)\n", + " \n", + " \n", + " Peripheral axonal distension\n", + " definition of HP:0034711 (Peripheral axonal distension)\n", + " \n", + " \n", + " An abnormal histological finding characterized by an increase in the cross-section area of peripheral nerve axons (up to 20-25 micrometers in diameter).\n", + " definition of HP:0034711 (Peripheral axonal distension)\n", + " \n", + " \n", + " Intense attachment to unusual objects\n", + " definition of HP:5200133 (Intense attachment to unusual objects)\n", + " \n", + " \n", + " Absent/hypoplastic coccyx\n", + " definition of HP:0008436 (Absent/hypoplastic coccyx)\n", + " \n", + " \n", + " #Absent/small tailbone #Absent/underdeveloped tailbone\n", + " definition of HP:0008436 (Absent/hypoplastic coccyx)\n", + " \n", + " \n", + " Short attention span\n", + " definition of HP:0000736 (Short attention span)\n", + " \n", + " \n", + " Reduced attention span characterized by distractibility and impulsivity.\n", + " definition of HP:0000736 (Short attention span)\n", + " \n", + " \n", + " #Easily distracted #Easy distractibility #High distractibility #Poor attention span #Problem paying attention #Short attention span\n", + " definition of HP:0000736 (Short attention span)\n", + " \n", + " \n", + " Abnormality of the epiphyses of the 3rd finger\n", + " definition of HP:0009320 (Abnormality of the epiphyses of the 3rd finger)\n", + " \n", + " \n", + " Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 3rd finger.\n", + " definition of HP:0009320 (Abnormality of the epiphyses of the 3rd finger)\n", + " \n", + " \n", + " #Abnormality of end part of the middle bone of the middle finger\n", + " definition of HP:0009320 (Abnormality of the epiphyses of the 3rd finger)\n", + " \n", + " \n", + " Intrahepatic cholestasis\n", + " definition of HP:0001406 (Intrahepatic cholestasis)\n", + " \n", + " \n", + " Impairment of bile flow due to obstruction in the small bile ducts within the liver.\n", + " definition of HP:0001406 (Intrahepatic cholestasis)\n", + " \n", + " \n", + " Maternal thrombophilia\n", + " definition of HP:0040222 (Maternal thrombophilia)\n", + " \n", + " \n", + " An increased tendency towards thrombosis in the mother during a pregnancy.\n", + " definition of HP:0040222 (Maternal thrombophilia)\n", + " \n", + " \n", + " Pericardial lymphangiectasia\n", + " definition of HP:0005183 (Pericardial lymphangiectasia)\n", + " \n", + " \n", + " An abnormal dilatation of lymph vessels in the pericardium.\n", + " definition of HP:0005183 (Pericardial lymphangiectasia)\n", + " \n", + " \n", + " Conception by assisted reproductive technology\n", + " definition of HP:0020121 (Conception by assisted reproductive technology)\n", + " \n", + " \n", + " A history of conception by an assisted reproductive technology such as in vitro fertilization (IVF), intracytoplasmic sperm injection (ICSI), and cryopreservation.\n", + " definition of HP:0020121 (Conception by assisted reproductive technology)\n", + " \n", + " \n", + " Abnormal mean corpuscular volume\n", + " definition of HP:0025065 (Abnormal mean corpuscular volume)\n", + " \n", + " \n", + " A deviation from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells, usually taken to be 80 to 100 femtoliters.\n", + " definition of HP:0025065 (Abnormal mean corpuscular volume)\n", + " \n", + " \n", + " #Abnormal erythrocyte volume #Abnormal MCV\n", + " definition of HP:0025065 (Abnormal mean corpuscular volume)\n", + " \n", + " \n", + " Supraventricular tachycardia with a manifest accessory pathway on the left free wall\n", + " definition of HP:0011696 (Supraventricular tachycardia with a manifest accessory pathway on the left free wall)\n", + " \n", + " \n", + " Dysarthria\n", + " definition of HP:0001260 (Dysarthria)\n", + " \n", + " \n", + " Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.\n", + " definition of HP:0001260 (Dysarthria)\n", + " \n", + " \n", + " #Difficulty articulating speech #Dysarthric speech\n", + " definition of HP:0001260 (Dysarthria)\n", + " \n", + " \n", + " Invasive pulmonary aspergillosis\n", + " definition of HP:0020103 (Invasive pulmonary aspergillosis)\n", + " \n", + " \n", + " Infection of the lungs with aspergillus. In the respiratory mucosa, the spores may germinate into hyphae, which in turn can invade the mucosa leading to invasive pulmonary aspergillosis.\n", + " definition of HP:0020103 (Invasive pulmonary aspergillosis)\n", + " \n", + " \n", + " Patchy sclerosis of the middle phalanx of the 2nd toe\n", + " definition of HP:0010409 (Patchy sclerosis of the middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Uneven increase in bone density in the middle bone of the 2nd toe\n", + " definition of HP:0010409 (Patchy sclerosis of the middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " Decreased HDL3b concentration\n", + " definition of HP:0032431 (Decreased HDL3b concentration)\n", + " \n", + " \n", + " A reduction below the normal concentration of the HDL3b subfraction in the blood circulation. An HDL3b particle is defined as an HDL particle with a size of 7.8-8.19 nm.\n", + " definition of HP:0032431 (Decreased HDL3b concentration)\n", + " \n", + " \n", + " Dyschronometria\n", + " definition of HP:6001044 (Dyschronometria)\n", + " \n", + " \n", + " Impaired ability to accurately measure or estimate time intervals.\n", + " definition of HP:6001044 (Dyschronometria)\n", + " \n", + " \n", + " Focal sensory seizure with visual features\n", + " definition of HP:0011165 (Focal sensory seizure with visual features)\n", + " \n", + " \n", + " A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colors, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation.\n", + " definition of HP:0011165 (Focal sensory seizure with visual features)\n", + " \n", + " \n", + " #Focal visual seizure #Partial visual seizure #Visual aura #Visual auras\n", + " definition of HP:0011165 (Focal sensory seizure with visual features)\n", + " \n", + " \n", + " Elevated urine arabitol level\n", + " definition of HP:0034612 (Elevated urine arabitol level)\n", + " \n", + " \n", + " Amount of arabitol in the urine above the upper limit of normal.\n", + " definition of HP:0034612 (Elevated urine arabitol level)\n", + " \n", + " \n", + " #Arabitol high in urine\n", + " definition of HP:0034612 (Elevated urine arabitol level)\n", + " \n", + " \n", + " Abnormality of the upper urinary tract\n", + " definition of HP:0010935 (Abnormality of the upper urinary tract)\n", + " \n", + " \n", + " An abnormality of the upper urinary tract.\n", + " definition of HP:0010935 (Abnormality of the upper urinary tract)\n", + " \n", + " \n", + " #Abnormality of the upper urinary tract\n", + " definition of HP:0010935 (Abnormality of the upper urinary tract)\n", + " \n", + " \n", + " Sclerosis of the 1st metacarpal\n", + " definition of HP:0100914 (Sclerosis of the 1st metacarpal)\n", + " \n", + " \n", + " #Increased bone density in 1st long bone of hand\n", + " definition of HP:0100914 (Sclerosis of the 1st metacarpal)\n", + " \n", + " \n", + " Transmantle columnar heterotopia\n", + " definition of HP:0032396 (Transmantle columnar heterotopia)\n", + " \n", + " \n", + " Linear heterotopia spanning from the cerebral mantle from the pia to the ependyma.\n", + " definition of HP:0032396 (Transmantle columnar heterotopia)\n", + " \n", + " \n", + " Decreased methylmalonyl-CoA mutase activity\n", + " definition of HP:0003210 (Decreased methylmalonyl-CoA mutase activity)\n", + " \n", + " \n", + " An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of methylmalonyl-CoA mutase activity.\n", + " definition of HP:0003210 (Decreased methylmalonyl-CoA mutase activity)\n", + " \n", + " \n", + " #Decreased methylmalonyl CoA mutase activity\n", + " definition of HP:0003210 (Decreased methylmalonyl-CoA mutase activity)\n", + " \n", + " \n", + " Diminishment of emotional expression\n", + " definition of HP:5200328 (Diminishment of emotional expression)\n", + " \n", + " \n", + " A reduction in the tendency of a person to express emotions that is typically noticed as a change in behavior by family members or peers.\n", + " definition of HP:5200328 (Diminishment of emotional expression)\n", + " \n", + " \n", + " #Decreased emotional display\n", + " definition of HP:5200328 (Diminishment of emotional expression)\n", + " \n", + " \n", + " Aplasia of the inner ear\n", + " definition of HP:0011372 (Aplasia of the inner ear)\n", + " \n", + " \n", + " Absence of the inner ear due to a developmental defect.\n", + " definition of HP:0011372 (Aplasia of the inner ear)\n", + " \n", + " \n", + " #Absent inner ear #Aplasia of the labyrinth #Labyrinthine aplasia #Michel deformity\n", + " definition of HP:0011372 (Aplasia of the inner ear)\n", + " \n", + " \n", + " Attenuation of retinal blood vessels\n", + " definition of HP:0007843 (Attenuation of retinal blood vessels)\n", + " \n", + " \n", + " #Narrowing of blood vessels in back of eye\n", + " definition of HP:0007843 (Attenuation of retinal blood vessels)\n", + " \n", + " \n", + " Peripheral hypermyelination\n", + " definition of HP:0030173 (Peripheral hypermyelination)\n", + " \n", + " \n", + " Increased amount of peripheral myelination.\n", + " definition of HP:0030173 (Peripheral hypermyelination)\n", + " \n", + " \n", + " #Increased peripheral myelination\n", + " definition of HP:0030173 (Peripheral hypermyelination)\n", + " \n", + " \n", + " Synostosis involving the 4th metacarpal\n", + " definition of HP:0009707 (Synostosis involving the 4th metacarpal)\n", + " \n", + " \n", + " #Fusion involving the 4th long bone of hand\n", + " definition of HP:0009707 (Synostosis involving the 4th metacarpal)\n", + " \n", + " \n", + " Increased intraabdominal fat\n", + " definition of HP:0008993 (Increased intraabdominal fat)\n", + " \n", + " \n", + " An abnormal increase in the amount of intraabdominal fat tissue.\n", + " definition of HP:0008993 (Increased intraabdominal fat)\n", + " \n", + " \n", + " Abnormal lateral semicircular canal morphology\n", + " definition of HP:0040106 (Abnormal lateral semicircular canal morphology)\n", + " \n", + " \n", + " #Morphological abnormality of the horizontal semicircular canal #Morphological abnormality of the lateral semicircular canal\n", + " definition of HP:0040106 (Abnormal lateral semicircular canal morphology)\n", + " \n", + " \n", + " Hyperautofluorescent retinal lesion\n", + " definition of HP:0025158 (Hyperautofluorescent retinal lesion)\n", + " \n", + " \n", + " Increased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging.\n", + " definition of HP:0025158 (Hyperautofluorescent retinal lesion)\n", + " \n", + " \n", + " Hallux valgus\n", + " definition of HP:0001822 (Hallux valgus)\n", + " \n", + " \n", + " Lateral deviation of the great toe (i.e., in the direction of the little toe).\n", + " definition of HP:0001822 (Hallux valgus)\n", + " \n", + " \n", + " #Bunion #Lateral deviation of great toe #Lateral deviation of halluces\n", + " definition of HP:0001822 (Hallux valgus)\n", + " \n", + " \n", + " Acute episodes of neuropathic symptoms\n", + " definition of HP:0003489 (Acute episodes of neuropathic symptoms)\n", + " \n", + " \n", + " Supernumerary spleens\n", + " definition of HP:0009799 (Supernumerary spleens)\n", + " \n", + " \n", + " The presence of two or more accessory spleens.\n", + " definition of HP:0009799 (Supernumerary spleens)\n", + " \n", + " \n", + " #Extra spleen\n", + " definition of HP:0009799 (Supernumerary spleens)\n", + " \n", + " \n", + " Episodic tachypnea\n", + " definition of HP:0002876 (Episodic tachypnea)\n", + " \n", + " \n", + " Episodes of very rapid breathing.\n", + " definition of HP:0002876 (Episodic tachypnea)\n", + " \n", + " \n", + " #Hyperpnea, episodic\n", + " definition of HP:0002876 (Episodic tachypnea)\n", + " \n", + " \n", + " Synostosis involving the fibula\n", + " definition of HP:0005928 (Synostosis involving the fibula)\n", + " \n", + " \n", + " #Bone fusion involving the calf bones\n", + " definition of HP:0005928 (Synostosis involving the fibula)\n", + " \n", + " \n", + " Dilated cardiomyopathy\n", + " definition of HP:0001644 (Dilated cardiomyopathy)\n", + " \n", + " \n", + " Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis.\n", + " definition of HP:0001644 (Dilated cardiomyopathy)\n", + " \n", + " \n", + " #Cardiomyopathy, dilated #Congestive cardiomyopathy #DCM #Stretched and thinned heart muscle\n", + " definition of HP:0001644 (Dilated cardiomyopathy)\n", + " \n", + " \n", + " Periventricular nodular heterotopia\n", + " definition of HP:0032388 (Periventricular nodular heterotopia)\n", + " \n", + " \n", + " Nodules of heterotopia along the ventricular walls. There can be a single nodule or a large number of nodules, they can exist on either or both sides of the brain at any point along the higher ventricle margins, they can be small or large, single or multiple.\n", + " definition of HP:0032388 (Periventricular nodular heterotopia)\n", + " \n", + " \n", + " Head impulse test has corrective saccade\n", + " definition of HP:0430122 (Head impulse test has corrective saccade)\n", + " \n", + " \n", + " In a patient with nystagmus, The examiner briskly rotates the head of the patient while having the patient fixate on a target. A corrective saccade indicates the patient's eye will move in one direction and quickly return back to neutral position.\n", + " definition of HP:0430122 (Head impulse test has corrective saccade)\n", + " \n", + " \n", + " Jaundice\n", + " definition of HP:0000952 (Jaundice)\n", + " \n", + " \n", + " Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.\n", + " definition of HP:0000952 (Jaundice)\n", + " \n", + " \n", + " #Icterus #Jaundice #Yellow skin #Yellowing of the skin\n", + " definition of HP:0000952 (Jaundice)\n", + " \n", + " \n", + " Irregular femoral epiphysis\n", + " definition of HP:0006361 (Irregular femoral epiphysis)\n", + " \n", + " \n", + " #Irregular thighbone end part\n", + " definition of HP:0006361 (Irregular femoral epiphysis)\n", + " \n", + " \n", + " Rectovestibular fistula\n", + " definition of HP:0025025 (Rectovestibular fistula)\n", + " \n", + " \n", + " A congenital malformation characterized by an abnormal connection (fistula) between the rectum and the vulval vestibule, at the lower aspect of the vaginal opening.\n", + " definition of HP:0025025 (Rectovestibular fistula)\n", + " \n", + " \n", + " #Vestibular fistula\n", + " definition of HP:0025025 (Rectovestibular fistula)\n", + " \n", + " \n", + " Low maternal circulating alpha-fetoprotein concentration\n", + " definition of HP:0010570 (Low maternal circulating alpha-fetoprotein concentration)\n", + " \n", + " \n", + " An abnormally low concentration of serum alpha-fetoprotein as compared to normal values for gestational-age.\n", + " definition of HP:0010570 (Low maternal circulating alpha-fetoprotein concentration)\n", + " \n", + " \n", + " #Low maternal serum alpha-fetoprotein\n", + " definition of HP:0010570 (Low maternal circulating alpha-fetoprotein concentration)\n", + " \n", + " \n", + " Duplication of phalanx of 3rd finger\n", + " definition of HP:0009959 (Duplication of phalanx of 3rd finger)\n", + " \n", + " \n", + " This term applies if one or more of the phalanges of the 3rd finger are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated.\n", + " definition of HP:0009959 (Duplication of phalanx of 3rd finger)\n", + " \n", + " \n", + " #Duplication of middle finger bone #Partial/complete duplication of phalanges of the 3rd finger\n", + " definition of HP:0009959 (Duplication of phalanx of 3rd finger)\n", + " \n", + " \n", + " Elevated intracellular cystine\n", + " definition of HP:0003358 (Elevated intracellular cystine)\n", + " \n", + " \n", + " An increased concentration of cystine within cells. This finding can be demonstrated on leukocytes, but is not specific to blood cells.\n", + " definition of HP:0003358 (Elevated intracellular cystine)\n", + " \n", + " \n", + " Bronchiolitis obliterans\n", + " definition of HP:0011946 (Bronchiolitis obliterans)\n", + " \n", + " \n", + " Inflammation and fibrosis of the bronchioles leading to partial or complete obstruction of these airways.\n", + " definition of HP:0011946 (Bronchiolitis obliterans)\n", + " \n", + " \n", + " #Constrictive bronchiolitis #Obliterative bronchiolitis\n", + " definition of HP:0011946 (Bronchiolitis obliterans)\n", + " \n", + " \n", + " Vowel expressive impediment\n", + " definition of HP:5200238 (Vowel expressive impediment)\n", + " \n", + " \n", + " Symphalangism affecting the distal phalanx of the hallux\n", + " definition of HP:0010082 (Symphalangism affecting the distal phalanx of the hallux)\n", + " \n", + " \n", + " #Fused outermost bone of big toe\n", + " definition of HP:0010082 (Symphalangism affecting the distal phalanx of the hallux)\n", + " \n", + " \n", + " Ethmocephaly\n", + " definition of HP:0030779 (Ethmocephaly)\n", + " \n", + " \n", + " Ethmocephaly is the rarest form of holoprosencephaly, which occurs due to an incomplete cleavage of the forebrain. Clinically, the disease presents with a proboscis, hypotelorism, microphthalmos and malformed ears.\n", + " definition of HP:0030779 (Ethmocephaly)\n", + " \n", + " \n", + " Long fingers\n", + " definition of HP:0100807 (Long fingers)\n", + " \n", + " \n", + " The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand.\n", + " definition of HP:0100807 (Long fingers)\n", + " \n", + " \n", + " #Long fingers\n", + " definition of HP:0100807 (Long fingers)\n", + " \n", + " \n", + " Cerebrospinal fluid rhinorrhoea\n", + " definition of HP:0030998 (Cerebrospinal fluid rhinorrhoea)\n", + " \n", + " \n", + " Drainage of cerebrospinal fluid through the nose. This can occur when there is a fistula between the dura and the skull base and discharge of cerebrospinal fluid (CSF) from the nose.\n", + " definition of HP:0030998 (Cerebrospinal fluid rhinorrhoea)\n", + " \n", + " \n", + " #CSF rhinorrhoea\n", + " definition of HP:0030998 (Cerebrospinal fluid rhinorrhoea)\n", + " \n", + " \n", + " Hair-pulling\n", + " definition of HP:0012167 (Hair-pulling)\n", + " \n", + " \n", + " A phenomenon in which persons repetitively pull out their own hair, resulting in noticeable hair loss.\n", + " definition of HP:0012167 (Hair-pulling)\n", + " \n", + " \n", + " #Trichotillomania\n", + " definition of HP:0012167 (Hair-pulling)\n", + " \n", + " \n", + " Respiratory failure requiring assisted ventilation\n", + " definition of HP:0004887 (Respiratory failure requiring assisted ventilation)\n", + " \n", + " \n", + " A state of respiratory distress that requires a life saving intervention in the form of gaining airway access and instituting positive pressure ventilation.\n", + " definition of HP:0004887 (Respiratory failure requiring assisted ventilation)\n", + " \n", + " \n", + " #Respiratory distress necessitating mechanical ventilation #Respiratory distress requiring endotracheal intubation #Respiratory distress requiring mechanical ventilation\n", + " definition of HP:0004887 (Respiratory failure requiring assisted ventilation)\n", + " \n", + " \n", + " Abnormal Hardy-Rand-Rittler plate test\n", + " definition of HP:0030587 (Abnormal Hardy-Rand-Rittler plate test)\n", + " \n", + " \n", + " Jaw claudication\n", + " definition of HP:0030164 (Jaw claudication)\n", + " \n", + " \n", + " Pain in the jaw or ear induced by chewing or otherwise moving the jaw.\n", + " definition of HP:0030164 (Jaw claudication)\n", + " \n", + " \n", + " #Jaw pain while chewing\n", + " definition of HP:0030164 (Jaw claudication)\n", + " \n", + " \n", + " Aplasia of the vestibule\n", + " definition of HP:0011377 (Aplasia of the vestibule)\n", + " \n", + " \n", + " Complete absence of the vestibule of the inner ear.\n", + " definition of HP:0011377 (Aplasia of the vestibule)\n", + " \n", + " \n", + " #Absent vestibule\n", + " definition of HP:0011377 (Aplasia of the vestibule)\n", + " \n", + " \n", + " Arterial thrombosis\n", + " definition of HP:0004420 (Arterial thrombosis)\n", + " \n", + " \n", + " The formation of a blood clot inside an artery.\n", + " definition of HP:0004420 (Arterial thrombosis)\n", + " \n", + " \n", + " #Blood clot in artery\n", + " definition of HP:0004420 (Arterial thrombosis)\n", + " \n", + " \n", + " Sleep onset insomnia\n", + " definition of HP:0031354 (Sleep onset insomnia)\n", + " \n", + " \n", + " Difficulty initiating sleep, that is, increased sleep onset latency, refers to the condition where it takes 30 minutes or more to fall asleep.\n", + " definition of HP:0031354 (Sleep onset insomnia)\n", + " \n", + " \n", + " #Difficulty falling asleep #Increased sleep latency #Insomnia early #Insomnia initial #Sleep onset insomnia #Trouble falling asleep\n", + " definition of HP:0031354 (Sleep onset insomnia)\n", + " \n", + " \n", + " Unicameral bone cyst\n", + " definition of HP:0012064 (Unicameral bone cyst)\n", + " \n", + " \n", + " A benign fluid filled simple cyst of bone filled with serous fluid.\n", + " definition of HP:0012064 (Unicameral bone cyst)\n", + " \n", + " \n", + " Abnormal cardiac magnetic resonance imaging finding\n", + " definition of HP:4000001 (Abnormal cardiac magnetic resonance imaging finding)\n", + " \n", + " \n", + " Abnormal finding by magnetic resonance imaging (MRI), which uses non-ionizing radiation via a strong magnetic field and radio frequency energy to generate three dimensional images. This term comprises findings that are specific to MRI. Findings such as ventricular spetum defect that can be detected by multiple modalities should be coded separately.\n", + " definition of HP:4000001 (Abnormal cardiac magnetic resonance imaging finding)\n", + " \n", + " \n", + " Hypoplastic spinal processes\n", + " definition of HP:0008460 (Hypoplastic spinal processes)\n", + " \n", + " \n", + " #Underdeveloped spinal processes\n", + " definition of HP:0008460 (Hypoplastic spinal processes)\n", + " \n", + " \n", + " BCGitis\n", + " definition of HP:0020086 (BCGitis)\n", + " \n", + " \n", + " Local or regional infection with Bacillus Calmette-Guerin (BCG) following vaccination.\n", + " definition of HP:0020086 (BCGitis)\n", + " \n", + " \n", + " Elevated urinary guanosine level\n", + " definition of HP:0040424 (Elevated urinary guanosine level)\n", + " \n", + " \n", + " The amount of guanosine in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:0040424 (Elevated urinary guanosine level)\n", + " \n", + " \n", + " Abnormal femoral epiphysis morphology\n", + " definition of HP:0006499 (Abnormal femoral epiphysis morphology)\n", + " \n", + " \n", + " An anomaly of a growth plate of a femur.\n", + " definition of HP:0006499 (Abnormal femoral epiphysis morphology)\n", + " \n", + " \n", + " #Abnormality of femoral epiphysis #Abnormality of thighbone end part\n", + " definition of HP:0006499 (Abnormal femoral epiphysis morphology)\n", + " \n", + " \n", + " Lip fissure\n", + " definition of HP:0031250 (Lip fissure)\n", + " \n", + " \n", + " A severe crack in a lip. A lip fissure may be painful, may bleed and often is a recurring manifestation.\n", + " definition of HP:0031250 (Lip fissure)\n", + " \n", + " \n", + " Anterior chamber cells grade 1+\n", + " definition of HP:0025561 (Anterior chamber cells grade 1+)\n", + " \n", + " \n", + " Anterior chamber cells with 6-15 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.\n", + " definition of HP:0025561 (Anterior chamber cells grade 1+)\n", + " \n", + " \n", + " 6 metacarpals\n", + " definition of HP:0001501 (6 metacarpals)\n", + " \n", + " \n", + " #6 long bones of hand\n", + " definition of HP:0001501 (6 metacarpals)\n", + " \n", + " \n", + " Activating thyroid-stimulating hormone receptor defect\n", + " definition of HP:0011790 (Activating thyroid-stimulating hormone receptor defect)\n", + " \n", + " \n", + " Gain-of-function thyroid-stimulating hormone receptor (TSHR) defect.\n", + " definition of HP:0011790 (Activating thyroid-stimulating hormone receptor defect)\n", + " \n", + " \n", + " #Activating TSHR defect\n", + " definition of HP:0011790 (Activating thyroid-stimulating hormone receptor defect)\n", + " \n", + " \n", + " Gastric arteriovenous malformation\n", + " definition of HP:0031341 (Gastric arteriovenous malformation)\n", + " \n", + " \n", + " An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the stomach.\n", + " definition of HP:0031341 (Gastric arteriovenous malformation)\n", + " \n", + " \n", + " Mitochondrial hypertrophy\n", + " definition of HP:0033686 (Mitochondrial hypertrophy)\n", + " \n", + " \n", + " Enlargement of mitochondria. Mitochondrial hypertrophy is not discernible by light microscopy. By electron microscopy (EM), hypertrophic mitochondria have normal cristae and normal matrix density. In contrast, swollen mitochondria display swollen cristae and irregular matrix densities in EM.\n", + " definition of HP:0033686 (Mitochondrial hypertrophy)\n", + " \n", + " \n", + " #Megamitochondria\n", + " definition of HP:0033686 (Mitochondrial hypertrophy)\n", + " \n", + " \n", + " Abnormality of the distal phalanx of the 3rd toe\n", + " definition of HP:0010368 (Abnormality of the distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Abnormality of the outermost bone of the 3rd toe\n", + " definition of HP:0010368 (Abnormality of the distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Neuroinflammation\n", + " definition of HP:0033429 (Neuroinflammation)\n", + " \n", + " \n", + " Activation of the brain's innate immune system in response to an inflammatory challenge and is characterized by a host of cellular and molecular changes within the brain.\n", + " definition of HP:0033429 (Neuroinflammation)\n", + " \n", + " \n", + " Elevated circulating gamma-aminobutyric acid concentration\n", + " definition of HP:0410053 (Elevated circulating gamma-aminobutyric acid concentration)\n", + " \n", + " \n", + " An increase in the level of Gamma-aminobutyric acid (GABA) in the blood circulation.\n", + " definition of HP:0410053 (Elevated circulating gamma-aminobutyric acid concentration)\n", + " \n", + " \n", + " #Increased circulating GABA concentration #Increased level of GABA in serum #Increased level of gamma-aminobutyric acid in serum\n", + " definition of HP:0410053 (Elevated circulating gamma-aminobutyric acid concentration)\n", + " \n", + " \n", + " Decreased circulating transcobalamin II concentration\n", + " definition of HP:0034608 (Decreased circulating transcobalamin II concentration)\n", + " \n", + " \n", + " Concentration of transcobalamin II in the blood circulation below the lower limit of normal.\n", + " definition of HP:0034608 (Decreased circulating transcobalamin II concentration)\n", + " \n", + " \n", + " #Transcobalamin II low in blood\n", + " definition of HP:0034608 (Decreased circulating transcobalamin II concentration)\n", + " \n", + " \n", + " Increased proportion of immature gamma-delta T cells\n", + " definition of HP:0500273 (Increased proportion of immature gamma-delta T cells)\n", + " \n", + " \n", + " Increased proportion of immature gamma-delta T cells relative to the total number of T cells.\n", + " definition of HP:0500273 (Increased proportion of immature gamma-delta T cells)\n", + " \n", + " \n", + " #Elevated proportion of immature gamma-delta T cells #Increased proportion of immature gamma-delat T lymphocytes #Increased proportion of immature gamma-delta T-cells #Increased proportion of immature gamma-delta T-lymphocytes\n", + " definition of HP:0500273 (Increased proportion of immature gamma-delta T cells)\n", + " \n", + " \n", + " Intra-oral hyperpigmentation\n", + " definition of HP:0010284 (Intra-oral hyperpigmentation)\n", + " \n", + " \n", + " Increased pigmentation, either focal or generalized, of the mucosa of the mouth.\n", + " definition of HP:0010284 (Intra-oral hyperpigmentation)\n", + " \n", + " \n", + " #Hyperpigmentation of oral mucosa #Oral mucosa melanin pigmentation #Oral racial pigmentation\n", + " definition of HP:0010284 (Intra-oral hyperpigmentation)\n", + " \n", + " \n", + " Decreased platelet alpha-2A-adrenergic receptor\n", + " definition of HP:0031125 (Decreased platelet alpha-2A-adrenergic receptor)\n", + " \n", + " \n", + " Decreased cell membrane concentration of alpha-2A adrenergic receptor that is stimulated by epinephrine.\n", + " definition of HP:0031125 (Decreased platelet alpha-2A-adrenergic receptor)\n", + " \n", + " \n", + " Bridged palmar crease\n", + " definition of HP:0011310 (Bridged palmar crease)\n", + " \n", + " \n", + " A crease that connects the proximal and distal transverse palmar creases.\n", + " definition of HP:0011310 (Bridged palmar crease)\n", + " \n", + " \n", + " #Bridged palm line #Transitional palmar crease\n", + " definition of HP:0011310 (Bridged palmar crease)\n", + " \n", + " \n", + " Prolonged reptilase time\n", + " definition of HP:0020193 (Prolonged reptilase time)\n", + " \n", + " \n", + " An abnormally increased duration of the reptilase time. Reptilase time is a functional plasma clotting assay, which is based on the enzymatic activity of batroxobin. By specifically cleaving fibrinogen A from fibrinogen, batroxobin leads to the formation of a stable fibrin clot. The time, starting from the addition of batroxobin to the plasma sample, until clot formation is the reptilase time and is given in seconds.\n", + " definition of HP:0020193 (Prolonged reptilase time)\n", + " \n", + " \n", + " Bulbous nose\n", + " definition of HP:0000414 (Bulbous nose)\n", + " \n", + " \n", + " Increased volume and globular shape of the anteroinferior aspect of the nose.\n", + " definition of HP:0000414 (Bulbous nose)\n", + " \n", + " \n", + " #Bulbous nose\n", + " definition of HP:0000414 (Bulbous nose)\n", + " \n", + " \n", + " Elevated circulating CHI3L1 level\n", + " definition of HP:0033103 (Elevated circulating CHI3L1 level)\n", + " \n", + " \n", + " Increased concentration of chitinase 3-like 1 (CHI3L1) in the blood circulation.\n", + " definition of HP:0033103 (Elevated circulating CHI3L1 level)\n", + " \n", + " \n", + " #Elevated circulating chitinase 3-like 1 level #Elevated circulating YKL40 level\n", + " definition of HP:0033103 (Elevated circulating CHI3L1 level)\n", + " \n", + " \n", + " Segmental hypoplasia of liver\n", + " definition of HP:0034182 (Segmental hypoplasia of liver)\n", + " \n", + " \n", + " Anatomically the liver is divided into right and left lobes based on the attachment of its peritoneal ligaments. This term refers to a developmental anomaly characterzied by the underdevelopment of one of the lobes of the liver. This is a rare and usually asymptomatic anomaly that can be detected incidentally on cross sectional imaging with computed tomography or magnetic resonance imaging.\n", + " definition of HP:0034182 (Segmental hypoplasia of liver)\n", + " \n", + " \n", + " Absence of Lutheran antigen on erythrocytes\n", + " definition of HP:0010971 (Absence of Lutheran antigen on erythrocytes)\n", + " \n", + " \n", + " Absence of the Lutheran antigen (a type I integral membrane glycoprotein) from the surface of red blood cells.\n", + " definition of HP:0010971 (Absence of Lutheran antigen on erythrocytes)\n", + " \n", + " \n", + " Diaphyseal undertubulation\n", + " definition of HP:0005019 (Diaphyseal undertubulation)\n", + " \n", + " \n", + " Tubulation refers to the size and shape of tubular bones. In children and adolescents, the modeling process regulates normal bone growth. Final shaft (tube) diameter depends on appositional bone growth and the equilibrium between periosteal and endosteal bone resorption and formation. Undertubulation refers to a broad, widened form of the shafts (diaphyses) of long bones.\n", + " definition of HP:0005019 (Diaphyseal undertubulation)\n", + " \n", + " \n", + " #Diaphyseal widening #Thickening of shaft or central part of long bones #Undertubulated long bones #Undertubulation of diaphyses\n", + " definition of HP:0005019 (Diaphyseal undertubulation)\n", + " \n", + " \n", + " Xanthomatosis\n", + " definition of HP:0000991 (Xanthomatosis)\n", + " \n", + " \n", + " The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin.\n", + " definition of HP:0000991 (Xanthomatosis)\n", + " \n", + " \n", + " #Xanthomata #Yellow bumps of fatty deposits on skin\n", + " definition of HP:0000991 (Xanthomatosis)\n", + " \n", + " \n", + " Hypoplasia of the iris\n", + " definition of HP:0007676 (Hypoplasia of the iris)\n", + " \n", + " \n", + " Congenital underdevelopment of the iris.\n", + " definition of HP:0007676 (Hypoplasia of the iris)\n", + " \n", + " \n", + " #Hypoplastic iris #Iris hypoplasia #Underdeveloped iris\n", + " definition of HP:0007676 (Hypoplasia of the iris)\n", + " \n", + " \n", + " Dentinogenesis imperfecta\n", + " definition of HP:0000703 (Dentinogenesis imperfecta)\n", + " \n", + " \n", + " Developmental dysplasia of dentin.\n", + " definition of HP:0000703 (Dentinogenesis imperfecta)\n", + " \n", + " \n", + " Elevated circulating acetylcarnitine concentration\n", + " definition of HP:0035023 (Elevated circulating acetylcarnitine concentration)\n", + " \n", + " \n", + " Concentration of acetylcarnitine (C2 acylcarnitine) in the blood circulation above the upper limit of normal. Acetylcarnitine has a two-carbon acyl chain.\n", + " definition of HP:0035023 (Elevated circulating acetylcarnitine concentration)\n", + " \n", + " \n", + " #Elevated circulating C2 acylcarnitine concentration\n", + " definition of HP:0035023 (Elevated circulating acetylcarnitine concentration)\n", + " \n", + " \n", + " Joint dislocation\n", + " definition of HP:0001373 (Joint dislocation)\n", + " \n", + " \n", + " Displacement or malalignment of joints.\n", + " definition of HP:0001373 (Joint dislocation)\n", + " \n", + " \n", + " #Joint dislocation #Joint dislocations\n", + " definition of HP:0001373 (Joint dislocation)\n", + " \n", + " \n", + " Retinal vein occlusion\n", + " definition of HP:0012636 (Retinal vein occlusion)\n", + " \n", + " \n", + " Blockage of the retinal vein.\n", + " definition of HP:0012636 (Retinal vein occlusion)\n", + " \n", + " \n", + " Small epiphysis of the distal phalanx of the thumb\n", + " definition of HP:0009683 (Small epiphysis of the distal phalanx of the thumb)\n", + " \n", + " \n", + " Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the thumb with respect to age-dependent norms.\n", + " definition of HP:0009683 (Small epiphysis of the distal phalanx of the thumb)\n", + " \n", + " \n", + " #Small end part of thumb outermost bone\n", + " definition of HP:0009683 (Small epiphysis of the distal phalanx of the thumb)\n", + " \n", + " \n", + " Balanitis\n", + " definition of HP:0034438 (Balanitis)\n", + " \n", + " \n", + " Inflammation of glans penis\n", + " definition of HP:0034438 (Balanitis)\n", + " \n", + " \n", + " Salmonella osteomyelitis\n", + " definition of HP:0005661 (Salmonella osteomyelitis)\n", + " \n", + " \n", + " Osteomyelitis caused by infection with the bacteria, salmonella.\n", + " definition of HP:0005661 (Salmonella osteomyelitis)\n", + " \n", + " \n", + " #Salmonella bone infection\n", + " definition of HP:0005661 (Salmonella osteomyelitis)\n", + " \n", + " \n", + " Curved middle phalanx of the 4th toe\n", + " definition of HP:0100444 (Curved middle phalanx of the 4th toe)\n", + " \n", + " \n", + " A deviation from the normal straight form of the middle phalanx of the fourth toe.\n", + " definition of HP:0100444 (Curved middle phalanx of the 4th toe)\n", + " \n", + " \n", + " #Curved middle bone of 4th toe\n", + " definition of HP:0100444 (Curved middle phalanx of the 4th toe)\n", + " \n", + " \n", + " Focal aware autonomic seizure with piloerection\n", + " definition of HP:0032783 (Focal aware autonomic seizure with piloerection)\n", + " \n", + " \n", + " A focal autonomic seizure with piloerection (bristling of hairs due to the involuntary contraction of small muscles at the base of hair follicles) characterized by retained awareness throughout the seizure.\n", + " definition of HP:0032783 (Focal aware autonomic seizure with piloerection)\n", + " \n", + " \n", + " Impaired horizontal smooth pursuit\n", + " definition of HP:0001151 (Impaired horizontal smooth pursuit)\n", + " \n", + " \n", + " An abnormality of ocular smooth pursuit characterized by an impairment of the ability to track horizontally moving objects.\n", + " definition of HP:0001151 (Impaired horizontal smooth pursuit)\n", + " \n", + " \n", + " #Abnormal horizontal ocular pursuit #Impaired horizontal visual pursuit\n", + " definition of HP:0001151 (Impaired horizontal smooth pursuit)\n", + " \n", + " \n", + " Bulging fontanelle\n", + " definition of HP:6000647 (Bulging fontanelle)\n", + " \n", + " \n", + " An outward curving of a fontanelle, which occurs when fluid builds up in the brain or the brain swells, causing increased pressure inside the skull.\n", + " definition of HP:6000647 (Bulging fontanelle)\n", + " \n", + " \n", + " #Tense fontanelle\n", + " definition of HP:6000647 (Bulging fontanelle)\n", + " \n", + " \n", + " Abnormal vertebral epiphysis morphology\n", + " definition of HP:0100734 (Abnormal vertebral epiphysis morphology)\n", + " \n", + " \n", + " An anomaly of one or more epiphyses of one or more vertebrae.\n", + " definition of HP:0100734 (Abnormal vertebral epiphysis morphology)\n", + " \n", + " \n", + " #Abnormal shape of the end part of the vertebra bone #Abnormality of the vertebral epiphyses #Abnormality of vertebral epiphysis morphology\n", + " definition of HP:0100734 (Abnormal vertebral epiphysis morphology)\n", + " \n", + " \n", + " Self-mutilation\n", + " definition of HP:0000742 (Self-mutilation)\n", + " \n", + " \n", + " Deliberate harm to one's body resulting in tissue damage, without a conscious intent to die.\n", + " definition of HP:0000742 (Self-mutilation)\n", + " \n", + " \n", + " #Deliberate self-harm #Self mutilation #Self-mutilation\n", + " definition of HP:0000742 (Self-mutilation)\n", + " \n", + " \n", + " Non-glucose reducing substance in urine\n", + " definition of HP:6000389 (Non-glucose reducing substance in urine)\n", + " \n", + " \n", + " Abnormal result for this screening test for urinary reducing substances including glucose, fructose, galactose, lactose, pentose and maltose, as well as amino acids, cysteine, tyrosine, homogentisic acid, ketone bodies, ascorbic acid and many drugs. This term is applied if the urine stick test for glucose was negative (normal).\n", + " definition of HP:6000389 (Non-glucose reducing substance in urine)\n", + " \n", + " \n", + " Corneal foreign body sensation\n", + " definition of HP:0034804 (Corneal foreign body sensation)\n", + " \n", + " \n", + " A perception that an object is in contact with the eye.\n", + " definition of HP:0034804 (Corneal foreign body sensation)\n", + " \n", + " \n", + " #Conjunctival foreign body sensation #Foreign body sensation in the eye\n", + " definition of HP:0034804 (Corneal foreign body sensation)\n", + " \n", + " \n", + " Gastric duplication\n", + " definition of HP:0011139 (Gastric duplication)\n", + " \n", + " \n", + " Gastric duplication is a usually cystic malformation of gastrointestinal tract, usually attached to the greater curvature of the stomach and has no communication with the stomach.\n", + " definition of HP:0011139 (Gastric duplication)\n", + " \n", + " \n", + " #Gastric duplication cyst\n", + " definition of HP:0011139 (Gastric duplication)\n", + " \n", + " \n", + " Abnormal OCT-measured macular thickness\n", + " definition of HP:0030606 (Abnormal OCT-measured macular thickness)\n", + " \n", + " \n", + " Focal non-convulsive status epilepticus with impairment of consciousness\n", + " definition of HP:0032861 (Focal non-convulsive status epilepticus with impairment of consciousness)\n", + " \n", + " \n", + " Focal non-convulsive status epilepticus with impairment of consciousness is a type of focal non-convulsive status epilepticus in which awareness is impaired.\n", + " definition of HP:0032861 (Focal non-convulsive status epilepticus with impairment of consciousness)\n", + " \n", + " \n", + " #Focal non-convulsive status epilepticus with impairment of awareness\n", + " definition of HP:0032861 (Focal non-convulsive status epilepticus with impairment of consciousness)\n", + " \n", + " \n", + " Cerebral hypoplasia\n", + " definition of HP:0006872 (Cerebral hypoplasia)\n", + " \n", + " \n", + " Underdevelopment of the cerebrum.\n", + " definition of HP:0006872 (Cerebral hypoplasia)\n", + " \n", + " \n", + " #Small cerebrum #Underdeveloped cerebrum\n", + " definition of HP:0006872 (Cerebral hypoplasia)\n", + " \n", + " \n", + " Unilateral renal dysplasia\n", + " definition of HP:0008718 (Unilateral renal dysplasia)\n", + " \n", + " \n", + " A unilateral form of developmental dysplasia of the kidney.\n", + " definition of HP:0008718 (Unilateral renal dysplasia)\n", + " \n", + " \n", + " Recurrent Haemophilus influenzae infections\n", + " definition of HP:0005376 (Recurrent Haemophilus influenzae infections)\n", + " \n", + " \n", + " Increased susceptibility to Haemophilus influenzae infections as manifested by recurrent episodes of infection by Haemophilus influenzae.\n", + " definition of HP:0005376 (Recurrent Haemophilus influenzae infections)\n", + " \n", + " \n", + " #Recurrent H. influenzae infections\n", + " definition of HP:0005376 (Recurrent Haemophilus influenzae infections)\n", + " \n", + " \n", + " Short neck\n", + " definition of HP:0000470 (Short neck)\n", + " \n", + " \n", + " Diminished length of the neck.\n", + " definition of HP:0000470 (Short neck)\n", + " \n", + " \n", + " #Cervical shortening #Decreased cervical height #Decreased cervical length #Decreased length of neck #Short neck\n", + " definition of HP:0000470 (Short neck)\n", + " \n", + " \n", + " Increased circulating free fatty acid level\n", + " definition of HP:0030781 (Increased circulating free fatty acid level)\n", + " \n", + " \n", + " A higher than normal levels of the fatty acids which can occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues.\n", + " definition of HP:0030781 (Increased circulating free fatty acid level)\n", + " \n", + " \n", + " Dumbbell-shaped long bone\n", + " definition of HP:0000947 (Dumbbell-shaped long bone)\n", + " \n", + " \n", + " An abnormal appearance of the long bones with resemblance to a dumbbell, a short bar with a weight at each end. That is, the long bone is shortened and displays flaring (widening) of the metaphyses.\n", + " definition of HP:0000947 (Dumbbell-shaped long bone)\n", + " \n", + " \n", + " #Dumbbell widening of long bone metaphyses #Dumbbell-shaped long bone\n", + " definition of HP:0000947 (Dumbbell-shaped long bone)\n", + " \n", + " \n", + " Rhomboid or triangular shaped 5th finger middle phalanx\n", + " definition of HP:0005910 (Rhomboid or triangular shaped 5th finger middle phalanx)\n", + " \n", + " \n", + " Rhomboid or triangular shaped 5th (little) finger middle phalanx.\n", + " definition of HP:0005910 (Rhomboid or triangular shaped 5th finger middle phalanx)\n", + " \n", + " \n", + " #Rhomboid or triangular shaped fifth finger middle phalanx\n", + " definition of HP:0005910 (Rhomboid or triangular shaped 5th finger middle phalanx)\n", + " \n", + " \n", + " Abnormality of the back musculature\n", + " definition of HP:0410168 (Abnormality of the back musculature)\n", + " \n", + " \n", + " Any abnormality of the back muscles.\n", + " definition of HP:0410168 (Abnormality of the back musculature)\n", + " \n", + " \n", + " Holster sign\n", + " definition of HP:6000006 (Holster sign)\n", + " \n", + " \n", + " Symmetric poikiloderma of hips and lateral thighs below the greater trochanter.\n", + " definition of HP:6000006 (Holster sign)\n", + " \n", + " \n", + " Global mesangial sclerosis\n", + " definition of HP:0033491 (Global mesangial sclerosis)\n", + " \n", + " \n", + " A generalized global (over 80%) increase of mesangial matrix that is present throughout the mesangial stalk (with or without associated mesangial hypercellularity).\n", + " definition of HP:0033491 (Global mesangial sclerosis)\n", + " \n", + " \n", + " Absent fifth toenail\n", + " definition of HP:0200105 (Absent fifth toenail)\n", + " \n", + " \n", + " #Absent fifth toenail #Missing fifth toenail\n", + " definition of HP:0200105 (Absent fifth toenail)\n", + " \n", + " \n", + " Hemosiderin-laden macrophages in bronchoalveolar fluid\n", + " definition of HP:0032979 (Hemosiderin-laden macrophages in bronchoalveolar fluid)\n", + " \n", + " \n", + " Hemosiderin-laden macrophages (HLM) in bronchoalveolar lavage (BAL) fluid were originally known as adiagnostic biomarker of alveolar hemorrhage, but have also been observed in idiopathic pulmonary fibrosis (IPF) with histopathological pattern of usual interstitial pneumonia (UIP).\n", + " definition of HP:0032979 (Hemosiderin-laden macrophages in bronchoalveolar fluid)\n", + " \n", + " \n", + " #Accumulation of hemosiderin laden alveolar macrophages #Siderophages in bronchoalveolar fluid\n", + " definition of HP:0032979 (Hemosiderin-laden macrophages in bronchoalveolar fluid)\n", + " \n", + " \n", + " Broad 2nd toe\n", + " definition of HP:0100040 (Broad 2nd toe)\n", + " \n", + " \n", + " A broad appearance of the second toe.\n", + " definition of HP:0100040 (Broad 2nd toe)\n", + " \n", + " \n", + " #Wide 2nd toe\n", + " definition of HP:0100040 (Broad 2nd toe)\n", + " \n", + " \n", + " Open fracture\n", + " definition of HP:4000050 (Open fracture)\n", + " \n", + " \n", + " A type of fracture in which there is an open wound or break in the skin near the site of the broken bone.\n", + " definition of HP:4000050 (Open fracture)\n", + " \n", + " \n", + " #Compound fracture\n", + " definition of HP:4000050 (Open fracture)\n", + " \n", + " \n", + " Absent toenail\n", + " definition of HP:0001802 (Absent toenail)\n", + " \n", + " \n", + " Congenital absence of the toenail.\n", + " definition of HP:0001802 (Absent toenail)\n", + " \n", + " \n", + " #Absent toenail\n", + " definition of HP:0001802 (Absent toenail)\n", + " \n", + " \n", + " Abnormal nasal mucosa morphology\n", + " definition of HP:0000433 (Abnormal nasal mucosa morphology)\n", + " \n", + " \n", + " #Abnormality of mucosa of nose #Abnormality of mucous membrane of nose #Abnormality of nasal mucous membrane #Abnormality of the nasal mucosa\n", + " definition of HP:0000433 (Abnormal nasal mucosa morphology)\n", + " \n", + " \n", + " Ear pain exacerbated by manipulating tragus or pinna\n", + " definition of HP:6000173 (Ear pain exacerbated by manipulating tragus or pinna)\n", + " \n", + " \n", + " Applies to pain of the ear that is worsened, aggravated, or exacerbated by touching or moving the tragus or pinna.\n", + " definition of HP:6000173 (Ear pain exacerbated by manipulating tragus or pinna)\n", + " \n", + " \n", + " Superior cerebellar dysplasia\n", + " definition of HP:0020185 (Superior cerebellar dysplasia)\n", + " \n", + " \n", + " Abnormal morphological development of the superior part of the cerebellum.\n", + " definition of HP:0020185 (Superior cerebellar dysplasia)\n", + " \n", + " \n", + " Axial dystonia\n", + " definition of HP:0002530 (Axial dystonia)\n", + " \n", + " \n", + " A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles.\n", + " definition of HP:0002530 (Axial dystonia)\n", + " \n", + " \n", + " #Truncal dystonia\n", + " definition of HP:0002530 (Axial dystonia)\n", + " \n", + " \n", + " EEG with temporal sharp waves\n", + " definition of HP:0011296 (EEG with temporal sharp waves)\n", + " \n", + " \n", + " EEG with sharp waves in the temporal region, i.e., sharp transient waves of a duration between 80 and 200 msec.\n", + " definition of HP:0011296 (EEG with temporal sharp waves)\n", + " \n", + " \n", + " Purulent synovial fluid\n", + " definition of HP:0034939 (Purulent synovial fluid)\n", + " \n", + " \n", + " The synovial fluid (also known as synovia, i.e., the fluid found in the cavities of synovial joints) contains increased quantities of white blood cells.\n", + " definition of HP:0034939 (Purulent synovial fluid)\n", + " \n", + " \n", + " Elevated CSF 14-3-3 protein concentration\n", + " definition of HP:6000689 (Elevated CSF 14-3-3 protein concentration)\n", + " \n", + " \n", + " The concentration of 14-3-3 protein in the cerebrospinal fluid (CSF) is above the upper limit of normal.\n", + " definition of HP:6000689 (Elevated CSF 14-3-3 protein concentration)\n", + " \n", + " \n", + " Mottled pigmentation of the trunk and proximal extremities\n", + " definition of HP:0007438 (Mottled pigmentation of the trunk and proximal extremities)\n", + " \n", + " \n", + " Congenital hypertrophy of retinal pigment epithelium\n", + " definition of HP:0007649 (Congenital hypertrophy of retinal pigment epithelium)\n", + " \n", + " \n", + " Sharply demarcated, congenital hyperpigmentation of the retinal pigment epithelium.\n", + " definition of HP:0007649 (Congenital hypertrophy of retinal pigment epithelium)\n", + " \n", + " \n", + " Persistence of primary teeth\n", + " definition of HP:0006335 (Persistence of primary teeth)\n", + " \n", + " \n", + " Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth.\n", + " definition of HP:0006335 (Persistence of primary teeth)\n", + " \n", + " \n", + " #Deciduous teeth retention #Delayed loss of baby teeth #Delayed loss of deciduous teeth #Delayed loss of primary teeth #Failure to exfoliate deciduous teeth #Failure to exfoliate primary teeth #Failure to lose baby teeth #Persistence of deciduous teeth #Persistent deciduous dentition #Persistent primary dentition #Persistent primary teeth #Retained baby teeth #Retained deciduous teeth #Retained primary teeth\n", + " definition of HP:0006335 (Persistence of primary teeth)\n", + " \n", + " \n", + " Sensory ataxic neuropathy\n", + " definition of HP:0003434 (Sensory ataxic neuropathy)\n", + " \n", + " \n", + " Knee contracture\n", + " definition of HP:0034671 (Knee contracture)\n", + " \n", + " \n", + " Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the knee joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.\n", + " definition of HP:0034671 (Knee contracture)\n", + " \n", + " \n", + " #Contracture of knee #Contracture of the knees #Knee contractures\n", + " definition of HP:0034671 (Knee contracture)\n", + " \n", + " \n", + " Middle mediastinal mass\n", + " definition of HP:0033828 (Middle mediastinal mass)\n", + " \n", + " \n", + " A type of inferior mediastinal mass that is located withinthe pericardium.\n", + " definition of HP:0033828 (Middle mediastinal mass)\n", + " \n", + " \n", + " Spondylometaphyseal dysplasia\n", + " definition of HP:0002657 (Spondylometaphyseal dysplasia)\n", + " \n", + " \n", + " Abnormal pulmonary valve cusp morphology\n", + " definition of HP:0031566 (Abnormal pulmonary valve cusp morphology)\n", + " \n", + " \n", + " Any structural anomaly of the pulmonary valve leaflets.\n", + " definition of HP:0031566 (Abnormal pulmonary valve cusp morphology)\n", + " \n", + " \n", + " Posterior pharyngeal cleft\n", + " definition of HP:0006783 (Posterior pharyngeal cleft)\n", + " \n", + " \n", + " Metaphyseal chondromatosis of humerus\n", + " definition of HP:0030298 (Metaphyseal chondromatosis of humerus)\n", + " \n", + " \n", + " Curved middle phalanx of the 5th toe\n", + " definition of HP:0100445 (Curved middle phalanx of the 5th toe)\n", + " \n", + " \n", + " A deviation from the normal straight form of the middle phalanx of the fifth toe.\n", + " definition of HP:0100445 (Curved middle phalanx of the 5th toe)\n", + " \n", + " \n", + " #Curved middle bone of little toe #Curved middle bone of pinkie toe #Curved middle bone of pinky toe\n", + " definition of HP:0100445 (Curved middle phalanx of the 5th toe)\n", + " \n", + " \n", + " Hypermethioninemia\n", + " definition of HP:0003235 (Hypermethioninemia)\n", + " \n", + " \n", + " An increased concentration of methionine in the blood.\n", + " definition of HP:0003235 (Hypermethioninemia)\n", + " \n", + " \n", + " #Increased methionine in blood #Methioninemia\n", + " definition of HP:0003235 (Hypermethioninemia)\n", + " \n", + " \n", + " Abnormal respiratory motile cilium physiology\n", + " definition of HP:0012261 (Abnormal respiratory motile cilium physiology)\n", + " \n", + " \n", + " Any functional anomaly of the respiratory motile cilia.\n", + " definition of HP:0012261 (Abnormal respiratory motile cilium physiology)\n", + " \n", + " \n", + " Anterior chamber flare grade 3+\n", + " definition of HP:0031620 (Anterior chamber flare grade 3+)\n", + " \n", + " \n", + " Marked anterior chamber flare (iris and lens details hazy).\n", + " definition of HP:0031620 (Anterior chamber flare grade 3+)\n", + " \n", + " \n", + " Talipes calcaneovarus\n", + " definition of HP:0008124 (Talipes calcaneovarus)\n", + " \n", + " \n", + " A congenital deformity characterized by a dorsiflexed, inverted, and adducted foot, i.e., a combination of talipes calcaneus and talipes varus.\n", + " definition of HP:0008124 (Talipes calcaneovarus)\n", + " \n", + " \n", + " Dysharmonic delayed bone age\n", + " definition of HP:0005832 (Dysharmonic delayed bone age)\n", + " \n", + " \n", + " A type of dysharmonic skeletal maturation in which there is a delay in skeletal maturation whose degree differs markedly in different bones.\n", + " definition of HP:0005832 (Dysharmonic delayed bone age)\n", + " \n", + " \n", + " Trimethylaminuria\n", + " definition of HP:0003614 (Trimethylaminuria)\n", + " \n", + " \n", + " Increased concentration of trimethylamine in the urine.\n", + " definition of HP:0003614 (Trimethylaminuria)\n", + " \n", + " \n", + " #High urine trimethylamine levels\n", + " definition of HP:0003614 (Trimethylaminuria)\n", + " \n", + " \n", + " Facial myokymia\n", + " definition of HP:0000317 (Facial myokymia)\n", + " \n", + " \n", + " Facial myokymia is a fine fibrillary activity of one or more muscles innervated by the facial nerve (the seventh cranial nerve).\n", + " definition of HP:0000317 (Facial myokymia)\n", + " \n", + " \n", + " #Involuntary facial contraction #Involuntary facial quivering\n", + " definition of HP:0000317 (Facial myokymia)\n", + " \n", + " \n", + " Ivory epiphysis of the proximal phalanx of the 3rd finger\n", + " definition of HP:0009352 (Ivory epiphysis of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Sclerosis of the epiphysis of the proximal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.\n", + " definition of HP:0009352 (Ivory epiphysis of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Increased bone density of end part of the innermost middle finger bone\n", + " definition of HP:0009352 (Ivory epiphysis of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Abnormality of connective tissue\n", + " definition of HP:0003549 (Abnormality of connective tissue)\n", + " \n", + " \n", + " Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat).\n", + " definition of HP:0003549 (Abnormality of connective tissue)\n", + " \n", + " \n", + " Medication crystalluria\n", + " definition of HP:0033068 (Medication crystalluria)\n", + " \n", + " \n", + " A variety of drugs may occasionally cause transient crystalluria, in isolation or in conjunction with other urinary abnormalities. Overdose, dehydration, or hypoalbuminaemia, which increases the unbound drug which is ultrafiltrated by the glomerulus, are the factors usually favoring the precipitation of crystals within the tubular lumina. In some cases, medication-induced crystalluria has a distinct phenotypic appearance. For instance, Sulphadiazine crystals appear as strongly birefringent 'shocks of wheat' or 'shells' with an amber color. Acyclovir crystals are birefringent and needle-shaped, and when present in abundance give to urine a silky and opalescent macroscopic appearance.\n", + " definition of HP:0033068 (Medication crystalluria)\n", + " \n", + " \n", + " Ameliorated by exposure to medication\n", + " definition of HP:0034536 (Ameliorated by exposure to medication)\n", + " \n", + " \n", + " Applies to a sign or symptom that is improved or made more bearable by treatment with a medication. Terms in this subhierarchy are intended to be used for cases in which the fact that a manifestation of a disease responds to a specific treatment can be used in the differential diagnosis.\n", + " definition of HP:0034536 (Ameliorated by exposure to medication)\n", + " \n", + " \n", + " Subcapsular cataract\n", + " definition of HP:0000523 (Subcapsular cataract)\n", + " \n", + " \n", + " A cataract that affects the region of the lens directly beneath the capsule of the lens.\n", + " definition of HP:0000523 (Subcapsular cataract)\n", + " \n", + " \n", + " #Subcapsular cataracts #Subcapsular lenticular cataracts #Subcapsular opacities\n", + " definition of HP:0000523 (Subcapsular cataract)\n", + " \n", + " \n", + " Dumbbell-shaped metaphyses\n", + " definition of HP:0002810 (Dumbbell-shaped metaphyses)\n", + " \n", + " \n", + " #Dumbbell shaped metaphyses #Dumbbell shaped metaphysis #Dumbbell shaped wide portion of long bone\n", + " definition of HP:0002810 (Dumbbell-shaped metaphyses)\n", + " \n", + " \n", + " Insulin resistance\n", + " definition of HP:0000855 (Insulin resistance)\n", + " \n", + " \n", + " Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels.\n", + " definition of HP:0000855 (Insulin resistance)\n", + " \n", + " \n", + " #Body fails to respond to insulin\n", + " definition of HP:0000855 (Insulin resistance)\n", + " \n", + " \n", + " Positive CSF toxoplasma gondii nucleic acid test\n", + " definition of HP:0430124 (Positive CSF toxoplasma gondii nucleic acid test)\n", + " \n", + " \n", + " Detection of Toxoplasma gondii nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction.\n", + " definition of HP:0430124 (Positive CSF toxoplasma gondii nucleic acid test)\n", + " \n", + " \n", + " #Positive CSF toxoplasma gondii PCR\n", + " definition of HP:0430124 (Positive CSF toxoplasma gondii nucleic acid test)\n", + " \n", + " \n", + " Anti-cryptococcal antibody positivity\n", + " definition of HP:0430078 (Anti-cryptococcal antibody positivity)\n", + " \n", + " \n", + " The presence of antibodies in the blood circulation that react against a component of a fungus of the Cryptoccous genus.\n", + " definition of HP:0430078 (Anti-cryptococcal antibody positivity)\n", + " \n", + " \n", + " Muscle spasm\n", + " definition of HP:0003394 (Muscle spasm)\n", + " \n", + " \n", + " Sudden and involuntary contractions of one or more muscles.\n", + " definition of HP:0003394 (Muscle spasm)\n", + " \n", + " \n", + " #Muscle cramps\n", + " definition of HP:0003394 (Muscle spasm)\n", + " \n", + " \n", + " Cerebral granulomatosis\n", + " definition of HP:0100313 (Cerebral granulomatosis)\n", + " \n", + " \n", + " Cerebral inflammation involving a granulomatous response, i.e., a non-specific inflammatory response involving granulomas, defined as a compact organized collection of mature mononuclear phagocytes including epithelioid and giant cells.\n", + " definition of HP:0100313 (Cerebral granulomatosis)\n", + " \n", + " \n", + " EEG with centrotemporal focal spike waves\n", + " definition of HP:0012557 (EEG with centrotemporal focal spike waves)\n", + " \n", + " \n", + " EEG with focal sharp transient waves in the centrotemporal region of the brain (also known as the central sulcus), i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave.\n", + " definition of HP:0012557 (EEG with centrotemporal focal spike waves)\n", + " \n", + " \n", + " Type 1 fibers relatively smaller than type 2 fibers\n", + " definition of HP:0003755 (Type 1 fibers relatively smaller than type 2 fibers)\n", + " \n", + " \n", + " The presence of abnormal muscle fiber size such that type 1 fibers are smaller than type 2 fibers.\n", + " definition of HP:0003755 (Type 1 fibers relatively smaller than type 2 fibers)\n", + " \n", + " \n", + " #Type 1 fibres relatively smaller than type 2 fibres\n", + " definition of HP:0003755 (Type 1 fibers relatively smaller than type 2 fibers)\n", + " \n", + " \n", + " Interlobular vein medial hypertrophy\n", + " definition of HP:0033973 (Interlobular vein medial hypertrophy)\n", + " \n", + " \n", + " Increased thickness of middle layer of the interlobular veins of the kidney.\n", + " definition of HP:0033973 (Interlobular vein medial hypertrophy)\n", + " \n", + " \n", + " #Medial hypertrophy within interlobular veins\n", + " definition of HP:0033973 (Interlobular vein medial hypertrophy)\n", + " \n", + " \n", + " Lipid-laden macrophages in bronchoalveolar fluid\n", + " definition of HP:0032978 (Lipid-laden macrophages in bronchoalveolar fluid)\n", + " \n", + " \n", + " Accumulation of lipids in alveolar macrophages with droplet-shaped fat inclusions.\n", + " definition of HP:0032978 (Lipid-laden macrophages in bronchoalveolar fluid)\n", + " \n", + " \n", + " Cerebral cortex with spongiform changes\n", + " definition of HP:0006790 (Cerebral cortex with spongiform changes)\n", + " \n", + " \n", + " Fractured epiphysis of femur\n", + " definition of HP:0041189 (Fractured epiphysis of femur)\n", + " \n", + " \n", + " A partial or complete breakage of the epiphysis of femur.\n", + " definition of HP:0041189 (Fractured epiphysis of femur)\n", + " \n", + " \n", + " #bone epiphysis of femur\n", + " definition of HP:0041189 (Fractured epiphysis of femur)\n", + " \n", + " \n", + " Elevated urine propionic acid level\n", + " definition of HP:6000432 (Elevated urine propionic acid level)\n", + " \n", + " \n", + " The amount of propionic acid in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000432 (Elevated urine propionic acid level)\n", + " \n", + " \n", + " Hypertriglyceridemia\n", + " definition of HP:0002155 (Hypertriglyceridemia)\n", + " \n", + " \n", + " An abnormal increase in the level of triglycerides in the blood.\n", + " definition of HP:0002155 (Hypertriglyceridemia)\n", + " \n", + " \n", + " #Increased circulating Tg levels #Increased plasma Tg levels #Increased plasma triglycerides #Increased serum triglycerides #Increased triglycerides\n", + " definition of HP:0002155 (Hypertriglyceridemia)\n", + " \n", + " \n", + " Agenesis of the small intestine\n", + " definition of HP:0012739 (Agenesis of the small intestine)\n", + " \n", + " \n", + " Failure to develop of the small intestine.\n", + " definition of HP:0012739 (Agenesis of the small intestine)\n", + " \n", + " \n", + " #Small bowel agenesis #Undeveloped small intestine\n", + " definition of HP:0012739 (Agenesis of the small intestine)\n", + " \n", + " \n", + " Acute hepatitis\n", + " definition of HP:0200119 (Acute hepatitis)\n", + " \n", + " \n", + " Acute hepatic injury resulting from inflammation typically accompanied by increased serum alanine transaminase activity. Etiologies include viral hepatitis, drugs, toxins, and autoimmune disorders.\n", + " definition of HP:0200119 (Acute hepatitis)\n", + " \n", + " \n", + " #Acute liver inflammation\n", + " definition of HP:0200119 (Acute hepatitis)\n", + " \n", + " \n", + " Monoarticular\n", + " definition of HP:6000111 (Monoarticular)\n", + " \n", + " \n", + " Refers to a phenotypic abnormality that affects a single joint.\n", + " definition of HP:6000111 (Monoarticular)\n", + " \n", + " \n", + " EEG with occipital epileptiform discharges\n", + " definition of HP:0033720 (EEG with occipital epileptiform discharges)\n", + " \n", + " \n", + " Focal epileptiform EEG discharges recorded in the occipital region.\n", + " definition of HP:0033720 (EEG with occipital epileptiform discharges)\n", + " \n", + " \n", + " Bulbous tooth\n", + " definition of HP:0033780 (Bulbous tooth)\n", + " \n", + " \n", + " A tooth crown with a marked cervical area constriction.\n", + " definition of HP:0033780 (Bulbous tooth)\n", + " \n", + " \n", + " Strabismus\n", + " definition of HP:0000486 (Strabismus)\n", + " \n", + " \n", + " A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.\n", + " definition of HP:0000486 (Strabismus)\n", + " \n", + " \n", + " #Cross-eyed #Squint #Squint eyes\n", + " definition of HP:0000486 (Strabismus)\n", + " \n", + " \n", + " Complete duplication of the distal phalanx of the 2nd toe\n", + " definition of HP:0010424 (Complete duplication of the distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Complete duplication of the distal phalanx of second toe.\n", + " definition of HP:0010424 (Complete duplication of the distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Complete duplication of the outermost bone of the 2nd toe\n", + " definition of HP:0010424 (Complete duplication of the distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Decreased circulating 17-hydroxyprogesterone concentration\n", + " definition of HP:0034607 (Decreased circulating 17-hydroxyprogesterone concentration)\n", + " \n", + " \n", + " Concentration of 17-hydroxyprogesterone in the blood circulation below the lower limit of normal.\n", + " definition of HP:0034607 (Decreased circulating 17-hydroxyprogesterone concentration)\n", + " \n", + " \n", + " Urethral valve\n", + " definition of HP:0010481 (Urethral valve)\n", + " \n", + " \n", + " The presence of an abnormal membrane obstructing the urethra.\n", + " definition of HP:0010481 (Urethral valve)\n", + " \n", + " \n", + " Upper-body predominance\n", + " definition of HP:0025290 (Upper-body predominance)\n", + " \n", + " \n", + " Applies to an abnormality that affects the arms, trunk, head more than the legs.\n", + " definition of HP:0025290 (Upper-body predominance)\n", + " \n", + " \n", + " Neoplasm of the rectum\n", + " definition of HP:0100743 (Neoplasm of the rectum)\n", + " \n", + " \n", + " #Rectal tumor #Rectal tumour\n", + " definition of HP:0100743 (Neoplasm of the rectum)\n", + " \n", + " \n", + " Perivascular pre-capillary pulmonary artery inflammation\n", + " definition of HP:0033392 (Perivascular pre-capillary pulmonary artery inflammation)\n", + " \n", + " \n", + " Inflammatory cell infiltration surrounding precapillary pulmonary arteries (arterioles; 20-70 micrometer).\n", + " definition of HP:0033392 (Perivascular pre-capillary pulmonary artery inflammation)\n", + " \n", + " \n", + " #Perivascular inflammation of arterioles in the pulmonary circulation #Perivascular inflammation of pre-capillary pulmonary arteries\n", + " definition of HP:0033392 (Perivascular pre-capillary pulmonary artery inflammation)\n", + " \n", + " \n", + " Abnormal adipose tissue morphology\n", + " definition of HP:0009124 (Abnormal adipose tissue morphology)\n", + " \n", + " \n", + " An abnormality of adipose tissue, which is loose connective tissue composed of adipocytes.\n", + " definition of HP:0009124 (Abnormal adipose tissue morphology)\n", + " \n", + " \n", + " #Abnormality of adipose tissue #Abnormality of fat tissue #Abnormality of fatty tissue\n", + " definition of HP:0009124 (Abnormal adipose tissue morphology)\n", + " \n", + " \n", + " Abnormal morphology of the shoulder musculature\n", + " definition of HP:0410169 (Abnormal morphology of the shoulder musculature)\n", + " \n", + " \n", + " Any abnormality of the shoulder muscles.\n", + " definition of HP:0410169 (Abnormal morphology of the shoulder musculature)\n", + " \n", + " \n", + " #Abnormality of the shoulder musculature #Muscle issues in the shoulder\n", + " definition of HP:0410169 (Abnormal morphology of the shoulder musculature)\n", + " \n", + " \n", + " Irregular vertebral endplates\n", + " definition of HP:0003301 (Irregular vertebral endplates)\n", + " \n", + " \n", + " An irregular surface of the vertebral end plates, which are normally relatively smooth.\n", + " definition of HP:0003301 (Irregular vertebral endplates)\n", + " \n", + " \n", + " #end-plate irregularities #endplate irregularities #endplate irregularity #Irregular end plates #Irregular endplates #irregular vertebral plates #vertebral endplate irregularity\n", + " definition of HP:0003301 (Irregular vertebral endplates)\n", + " \n", + " \n", + " Curved proximal phalanx of the 4th finger\n", + " definition of HP:0009288 (Curved proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " #Curved innermost ring finger bone\n", + " definition of HP:0009288 (Curved proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " Follicular hyperkeratosis\n", + " definition of HP:0007502 (Follicular hyperkeratosis)\n", + " \n", + " \n", + " A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum.\n", + " definition of HP:0007502 (Follicular hyperkeratosis)\n", + " \n", + " \n", + " #Hyperkeratosis follicularis\n", + " definition of HP:0007502 (Follicular hyperkeratosis)\n", + " \n", + " \n", + " Abnormality of the crus of the helix\n", + " definition of HP:0009895 (Abnormality of the crus of the helix)\n", + " \n", + " \n", + " An abnormality of the crus of the helix, which is the horizontal piece of cartilage located outside the ear canal that divides the upper and lower parts of the ear.\n", + " definition of HP:0009895 (Abnormality of the crus of the helix)\n", + " \n", + " \n", + " #Abnormality of the crus of the ear\n", + " definition of HP:0009895 (Abnormality of the crus of the helix)\n", + " \n", + " \n", + " Macular drusen\n", + " definition of HP:0030499 (Macular drusen)\n", + " \n", + " \n", + " Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye. This class refers to the presence of Drusen in the macula.\n", + " definition of HP:0030499 (Macular drusen)\n", + " \n", + " \n", + " Abnormality of the urethra\n", + " definition of HP:0000795 (Abnormality of the urethra)\n", + " \n", + " \n", + " An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body.\n", + " definition of HP:0000795 (Abnormality of the urethra)\n", + " \n", + " \n", + " #Urethra issue\n", + " definition of HP:0000795 (Abnormality of the urethra)\n", + " \n", + " \n", + " Nevus psiloliparus\n", + " definition of HP:0034587 (Nevus psiloliparus)\n", + " \n", + " \n", + " Nevus psiloliparus is a rare fatty tissue nevus that is a marker for encephalocraniocutaneous lipomatosis, a neurocutaneous syndrome with ocular and central nervous system anomalies. Clinically, nevus psiloliparus is often described as a congenital alopecia and appears as an irregularly shaped, circumscribed area of alopecia on the scalp. Histopathology demonstrates a near-complete absence of mature hair follicles with preservation of arrector pili muscles and mature adipocytes within the dermis.\n", + " definition of HP:0034587 (Nevus psiloliparus)\n", + " \n", + " \n", + " Enlarged fetal lungs\n", + " definition of HP:6000613 (Enlarged fetal lungs)\n", + " \n", + " \n", + " The size (volume) of the lungs of a fetus above the upper limit of normal for the gestational age.\n", + " definition of HP:6000613 (Enlarged fetal lungs)\n", + " \n", + " \n", + " Abnormal fourth ventricle morphology\n", + " definition of HP:0010950 (Abnormal fourth ventricle morphology)\n", + " \n", + " \n", + " An abnormality of the fourth ventricle.\n", + " definition of HP:0010950 (Abnormal fourth ventricle morphology)\n", + " \n", + " \n", + " #Abnormality of the fourth ventricle\n", + " definition of HP:0010950 (Abnormal fourth ventricle morphology)\n", + " \n", + " \n", + " Decreased facial expression\n", + " definition of HP:0004673 (Decreased facial expression)\n", + " \n", + " \n", + " A reduced degree of voluntary and involuntary facial movements involved in responded to others or expressing emotions.\n", + " definition of HP:0004673 (Decreased facial expression)\n", + " \n", + " \n", + " #Decreased facial expression\n", + " definition of HP:0004673 (Decreased facial expression)\n", + " \n", + " \n", + " Brachioradialis hyperreflexia\n", + " definition of HP:0033203 (Brachioradialis hyperreflexia)\n", + " \n", + " \n", + " Increased intensity of the brachioradialis reflex.\n", + " definition of HP:0033203 (Brachioradialis hyperreflexia)\n", + " \n", + " \n", + " Complete duplication of the first metacarpal\n", + " definition of HP:0009615 (Complete duplication of the first metacarpal)\n", + " \n", + " \n", + " Complete duplication of the first metacarpal bone.\n", + " definition of HP:0009615 (Complete duplication of the first metacarpal)\n", + " \n", + " \n", + " #Complete duplication of the first long bone of hand\n", + " definition of HP:0009615 (Complete duplication of the first metacarpal)\n", + " \n", + " \n", + " Nephronophthisis\n", + " definition of HP:0000090 (Nephronophthisis)\n", + " \n", + " \n", + " Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis.\n", + " definition of HP:0000090 (Nephronophthisis)\n", + " \n", + " \n", + " #juvenile nephronophthisis\n", + " definition of HP:0000090 (Nephronophthisis)\n", + " \n", + " \n", + " Perifollicular fibrosis\n", + " definition of HP:0030054 (Perifollicular fibrosis)\n", + " \n", + " \n", + " Presence of excess fibrous connective tissue surrounding hair follicules.\n", + " definition of HP:0030054 (Perifollicular fibrosis)\n", + " \n", + " \n", + " Prominent crus of helix\n", + " definition of HP:0009899 (Prominent crus of helix)\n", + " \n", + " \n", + " The presence of an abnormally prominent of the crus of the helix. That is, development of the crus helix to the same degree as an average antihelix stem or helix.\n", + " definition of HP:0009899 (Prominent crus of helix)\n", + " \n", + " \n", + " #Abnormal prominence of the crus of the ear #Helix, crus, prominent #Hyperplastic helix crus #Hypertrophic helix crus\n", + " definition of HP:0009899 (Prominent crus of helix)\n", + " \n", + " \n", + " Abnormal muscle fiber desmin\n", + " definition of HP:0030224 (Abnormal muscle fiber desmin)\n", + " \n", + " \n", + " A deviation from normal in the expression of desmin in muscle tissue. Desmin is an 53-kDa protein.\n", + " definition of HP:0030224 (Abnormal muscle fiber desmin)\n", + " \n", + " \n", + " #Abnormal muscle fibre desmin\n", + " definition of HP:0030224 (Abnormal muscle fiber desmin)\n", + " \n", + " \n", + " Lambdoidal craniosynostosis\n", + " definition of HP:0004443 (Lambdoidal craniosynostosis)\n", + " \n", + " \n", + " A kind of craniosynostosis affecting the lambdoidal suture.\n", + " definition of HP:0004443 (Lambdoidal craniosynostosis)\n", + " \n", + " \n", + " #Lambdoid suture craniosynostosis #Lambdoid suture synostosis\n", + " definition of HP:0004443 (Lambdoidal craniosynostosis)\n", + " \n", + " \n", + " Recurrent acute respiratory tract infection\n", + " definition of HP:0011948 (Recurrent acute respiratory tract infection)\n", + " \n", + " \n", + " A history of repeated acute infections of the upper or lower respiratory tract.\n", + " definition of HP:0011948 (Recurrent acute respiratory tract infection)\n", + " \n", + " \n", + " #Acute respiratory tract infection\n", + " definition of HP:0011948 (Recurrent acute respiratory tract infection)\n", + " \n", + " \n", + " Incomplete congenital stationary night blindness\n", + " definition of HP:0030641 (Incomplete congenital stationary night blindness)\n", + " \n", + " \n", + " Photoreceptor outer segment loss on macular OCT\n", + " definition of HP:0030610 (Photoreceptor outer segment loss on macular OCT)\n", + " \n", + " \n", + " Oral mucosa plaque\n", + " definition of HP:6001110 (Oral mucosa plaque)\n", + " \n", + " \n", + " A raised, flat-topped lesion with a diameter of one centimeter or more that is located in the mucosa of the mouth.\n", + " definition of HP:6001110 (Oral mucosa plaque)\n", + " \n", + " \n", + " Enanthema\n", + " definition of HP:0030249 (Enanthema)\n", + " \n", + " \n", + " A sudden eruption (rash) of the surface of a mucous membrane of the mouth or pharynx.\n", + " definition of HP:0030249 (Enanthema)\n", + " \n", + " \n", + " Hypotriglyceridemia\n", + " definition of HP:0012153 (Hypotriglyceridemia)\n", + " \n", + " \n", + " An decrease in the level of triglycerides in the blood.\n", + " definition of HP:0012153 (Hypotriglyceridemia)\n", + " \n", + " \n", + " #Decreased circulating Tg levels #Decreased plasma Tg levels #Low blood triglyceride levels\n", + " definition of HP:0012153 (Hypotriglyceridemia)\n", + " \n", + " \n", + " Patchy sclerosis of proximal toe phalanx\n", + " definition of HP:0010208 (Patchy sclerosis of proximal toe phalanx)\n", + " \n", + " \n", + " Patchy (irregular) increase in bone density of one or more of the proximal phalanges of the toes. This can take on many forms depending on severity and distribution as can be seen on x-rays.\n", + " definition of HP:0010208 (Patchy sclerosis of proximal toe phalanx)\n", + " \n", + " \n", + " #Patchy sclerosis of the proximal phalanges of the toes #Uneven increase in bone density in innermost toe bone\n", + " definition of HP:0010208 (Patchy sclerosis of proximal toe phalanx)\n", + " \n", + " \n", + " Hepatojugular reflux\n", + " definition of HP:0030849 (Hepatojugular reflux)\n", + " \n", + " \n", + " The examiner applies firm but persistent pressure over the liver for 10 seconds while observing the mean jugular venous pressure. Normally there is either no rise or only a transient (i.e., 2 to 3 sec) rise in mean jugular venous pressure. A sustained increase in the mean venous pressure until abdominal compression is released is abnormal and indicates impaired right heart function. This abnormal response is called hepatojugular reflux.\n", + " definition of HP:0030849 (Hepatojugular reflux)\n", + " \n", + " \n", + " Simplified gyral pattern\n", + " definition of HP:0009879 (Simplified gyral pattern)\n", + " \n", + " \n", + " An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly.\n", + " definition of HP:0009879 (Simplified gyral pattern)\n", + " \n", + " \n", + " #Cortical gyral simplification\n", + " definition of HP:0009879 (Simplified gyral pattern)\n", + " \n", + " \n", + " Vascular malformation of the lip\n", + " definition of HP:0031486 (Vascular malformation of the lip)\n", + " \n", + " \n", + " An anomaly of blood vessels located in the lip.\n", + " definition of HP:0031486 (Vascular malformation of the lip)\n", + " \n", + " \n", + " Glomerular extracapillary fibrin\n", + " definition of HP:0033396 (Glomerular extracapillary fibrin)\n", + " \n", + " \n", + " Presence of ropey, eosinophilic material (brght red on Trichrome staining) consistent with extracapillary fibrin outside of capillary lumina.\n", + " definition of HP:0033396 (Glomerular extracapillary fibrin)\n", + " \n", + " \n", + " Craniofacial teratoma\n", + " definition of HP:0030755 (Craniofacial teratoma)\n", + " \n", + " \n", + " A teratoma located in the craniofacial region.\n", + " definition of HP:0030755 (Craniofacial teratoma)\n", + " \n", + " \n", + " Abnormal social development\n", + " definition of HP:0025732 (Abnormal social development)\n", + " \n", + " \n", + " A substantial lag in the ahcievement of or divergence from typical milestones in social interaction and communication skills. Social-emotional competencies in young children include helping, sharing, comforting, and exhibiting empathy and compliance.\n", + " definition of HP:0025732 (Abnormal social development)\n", + " \n", + " \n", + " Abnormal circulating free T3 concentration\n", + " definition of HP:0032209 (Abnormal circulating free T3 concentration)\n", + " \n", + " \n", + " A deviation from the normal concentration of free triiodothyronine (T3) in the blood circulation. A proportion of T3 is bound to plasma proteins in the blood, including mainly thyroxine binding globulin, transthyretin, and albumin. T3 that is not bound to a protein is referred to as free T3.\n", + " definition of HP:0032209 (Abnormal circulating free T3 concentration)\n", + " \n", + " \n", + " #Abnormal circulating free T3 level #Abnormal circulating free triiodotyronine concentration\n", + " definition of HP:0032209 (Abnormal circulating free T3 concentration)\n", + " \n", + " \n", + " Bulbar signs\n", + " definition of HP:0002483 (Bulbar signs)\n", + " \n", + " \n", + " Female pseudohermaphroditism\n", + " definition of HP:0010458 (Female pseudohermaphroditism)\n", + " \n", + " \n", + " Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In female pseudohermaphroditism, the genotype is female (XX) and the gonads are ovaries, but the external genitalia are virilized.\n", + " definition of HP:0010458 (Female pseudohermaphroditism)\n", + " \n", + " \n", + " Palatine myxoma\n", + " definition of HP:0034941 (Palatine myxoma)\n", + " \n", + " \n", + " A myxoma (A benign tumor composed of myxomatous tissue composed of loosely-arranged spindle, polygonal, and stellate cells) localized to the palate. Clinically, such tumors may present as a sessile nodule on the hard palate.\n", + " definition of HP:0034941 (Palatine myxoma)\n", + " \n", + " \n", + " Synostosis involving bones of the feet\n", + " definition of HP:0009140 (Synostosis involving bones of the feet)\n", + " \n", + " \n", + " #Fusion involving the bones of the feet\n", + " definition of HP:0009140 (Synostosis involving bones of the feet)\n", + " \n", + " \n", + " Bracket epiphyses of the toes\n", + " definition of HP:0010163 (Bracket epiphyses of the toes)\n", + " \n", + " \n", + " #Bracket shaped end part of the toe bones\n", + " definition of HP:0010163 (Bracket epiphyses of the toes)\n", + " \n", + " \n", + " Mucus in stool\n", + " definition of HP:6000686 (Mucus in stool)\n", + " \n", + " \n", + " Abnormally increased amount of mucus in the feces. Mucus is a slippery aqueous secretion produced by mucous membranes including those of the intestines.\n", + " definition of HP:6000686 (Mucus in stool)\n", + " \n", + " \n", + " Focal hyperkinetic seizure\n", + " definition of HP:0011174 (Focal hyperkinetic seizure)\n", + " \n", + " \n", + " A focal seizure characterized at onset by predominantly proximal limb or axial muscles producing irregular sequential ballistic movements, such as pedaling, pelvic thrusting, thrashing, rocking movements.\n", + " definition of HP:0011174 (Focal hyperkinetic seizure)\n", + " \n", + " \n", + " #Hyperkinetic seizures #Localised hyperkinetic seizure #Localized hyperkinetic seizure #Partial hyperkinetic seizure #Segmental hyperkinetic seizure\n", + " definition of HP:0011174 (Focal hyperkinetic seizure)\n", + " \n", + " \n", + " Renal tubular epithelial cell hyaline droplets\n", + " definition of HP:0032600 (Renal tubular epithelial cell hyaline droplets)\n", + " \n", + " \n", + " Tubular epithelium with round strongly PAS-positive cytoplasmic droplet material in at least one tubular epithelial cell.\n", + " definition of HP:0032600 (Renal tubular epithelial cell hyaline droplets)\n", + " \n", + " \n", + " Elevated urinary homovanillic acid\n", + " definition of HP:0011977 (Elevated urinary homovanillic acid)\n", + " \n", + " \n", + " An increased concentration of homovanillic acid in the urine.\n", + " definition of HP:0011977 (Elevated urinary homovanillic acid)\n", + " \n", + " \n", + " Gallbladder perforation\n", + " definition of HP:0030154 (Gallbladder perforation)\n", + " \n", + " \n", + " Rupture of the wall of the gallbladder.\n", + " definition of HP:0030154 (Gallbladder perforation)\n", + " \n", + " \n", + " #Gall bladder perforation\n", + " definition of HP:0030154 (Gallbladder perforation)\n", + " \n", + " \n", + " Osteolytic defects of the distal phalanx of the 4th toe\n", + " definition of HP:0100459 (Osteolytic defects of the distal phalanx of the 4th toe)\n", + " \n", + " \n", + " #Osteolytic defects of the outermost bone of the 4th toe\n", + " definition of HP:0100459 (Osteolytic defects of the distal phalanx of the 4th toe)\n", + " \n", + " \n", + " Elevated CSF alpha-ketoglutarate concentration\n", + " definition of HP:6000468 (Elevated CSF alpha-ketoglutarate concentration)\n", + " \n", + " \n", + " The concentration of alpha-ketoglutarate in the cerebrospinal fluid (CSF) is above the upper limit of normal.\n", + " definition of HP:6000468 (Elevated CSF alpha-ketoglutarate concentration)\n", + " \n", + " \n", + " Coloboma\n", + " definition of HP:0000589 (Coloboma)\n", + " \n", + " \n", + " A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa.\n", + " definition of HP:0000589 (Coloboma)\n", + " \n", + " \n", + " #Notched pupil #Ocular coloboma #Ocular colobomas\n", + " definition of HP:0000589 (Coloboma)\n", + " \n", + " \n", + " Trident hand\n", + " definition of HP:0004060 (Trident hand)\n", + " \n", + " \n", + " A hand in which the fingers are of nearly equal length and deflected at the first interphalangeal joint, so as to give a forklike shape consisting of separation of the first and second as well as the third and fourth digits.\n", + " definition of HP:0004060 (Trident hand)\n", + " \n", + " \n", + " #trident abnormality #trident deformity\n", + " definition of HP:0004060 (Trident hand)\n", + " \n", + " \n", + " Acute promyelocytic leukemia\n", + " definition of HP:0004836 (Acute promyelocytic leukemia)\n", + " \n", + " \n", + " A type of acute myeloid leukemia in which abnormal promyelocytes predominate.\n", + " definition of HP:0004836 (Acute promyelocytic leukemia)\n", + " \n", + " \n", + " #Acute promyelocytic leukaemia\n", + " definition of HP:0004836 (Acute promyelocytic leukemia)\n", + " \n", + " \n", + " Pituitary prolactin cell adenoma\n", + " definition of HP:0006767 (Pituitary prolactin cell adenoma)\n", + " \n", + " \n", + " A type of pituitary adenoma originating in prolactin secreting cells. This kind of adenoma is characterized by overproduction of prolactin, and may cause loss of menstrual periods and breast milk production in women.\n", + " definition of HP:0006767 (Pituitary prolactin cell adenoma)\n", + " \n", + " \n", + " #Pituitary prolactinoma #Prolactin-secreting pituitary adenoma #Prolactinoma\n", + " definition of HP:0006767 (Pituitary prolactin cell adenoma)\n", + " \n", + " \n", + " Lipid accumulation in hepatocytes\n", + " definition of HP:0006561 (Lipid accumulation in hepatocytes)\n", + " \n", + " \n", + " Decreased fucosylation of N-linked protein glycosylation\n", + " definition of HP:0012353 (Decreased fucosylation of N-linked protein glycosylation)\n", + " \n", + " \n", + " Decreased addition of fucose sugar units to N-linked glycans.\n", + " definition of HP:0012353 (Decreased fucosylation of N-linked protein glycosylation)\n", + " \n", + " \n", + " Brow ptosis\n", + " definition of HP:0031623 (Brow ptosis)\n", + " \n", + " \n", + " Drooping of the upper eyebrow below the superior orbital rim.\n", + " definition of HP:0031623 (Brow ptosis)\n", + " \n", + " \n", + " #Drooping brow\n", + " definition of HP:0031623 (Brow ptosis)\n", + " \n", + " \n", + " Reversed end-diastolic umbilical artery flow\n", + " definition of HP:0034225 (Reversed end-diastolic umbilical artery flow)\n", + " \n", + " \n", + " An anomaly that is visualized by umbilical artery Doppler velocimetry. Flow in the umbilical artery should be in the forward direction in normal circumstances. This anomaly is characterized by an reversal of flow in the umbilical artery at the end of diastole (i.e., backwards flow).\n", + " definition of HP:0034225 (Reversed end-diastolic umbilical artery flow)\n", + " \n", + " \n", + " Elevated urine keto acid level\n", + " definition of HP:0033456 (Elevated urine keto acid level)\n", + " \n", + " \n", + " Increased amount of a keta acid in the urine.\n", + " definition of HP:0033456 (Elevated urine keto acid level)\n", + " \n", + " \n", + " Broad phalanx of the toes\n", + " definition of HP:0010174 (Broad phalanx of the toes)\n", + " \n", + " \n", + " Increased width of phalanx of one or more toes.\n", + " definition of HP:0010174 (Broad phalanx of the toes)\n", + " \n", + " \n", + " #Wide toe bones\n", + " definition of HP:0010174 (Broad phalanx of the toes)\n", + " \n", + " \n", + " Atretic gallbladder\n", + " definition of HP:0011984 (Atretic gallbladder)\n", + " \n", + " \n", + " Failure of formation of the lumen of the gallbladder, often associated with gallbladder hypoplasia.\n", + " definition of HP:0011984 (Atretic gallbladder)\n", + " \n", + " \n", + " #Gallbladder atresia\n", + " definition of HP:0011984 (Atretic gallbladder)\n", + " \n", + " \n", + " Decreased erythrocyte UDP glucose-4-epimerase concentration\n", + " definition of HP:0410198 (Decreased erythrocyte UDP glucose-4-epimerase concentration)\n", + " \n", + " \n", + " A decrease in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.\n", + " definition of HP:0410198 (Decreased erythrocyte UDP glucose-4-epimerase concentration)\n", + " \n", + " \n", + " #Decreased erythrocyte uridine diphosphate glucose-4-epimerase concentration #Decreased UDP-glucose 4-epimerase level in RBCs #Decreased UDP-glucose 4-epimerase level in red blood cells #Decreased uridine diphosphate glucose-4-epimerase level in red blood cells\n", + " definition of HP:0410198 (Decreased erythrocyte UDP glucose-4-epimerase concentration)\n", + " \n", + " \n", + " Cementum hypoplasia\n", + " definition of HP:0033787 (Cementum hypoplasia)\n", + " \n", + " \n", + " The decrease or absence of cementum. The cementum anchors the periodontal ligament attachment fiber between the tooth root and the alveolar bone. Its absence leads to early loss of teeth.\n", + " definition of HP:0033787 (Cementum hypoplasia)\n", + " \n", + " \n", + " #Cementum aplasia\n", + " definition of HP:0033787 (Cementum hypoplasia)\n", + " \n", + " \n", + " Late young adult onset\n", + " definition of HP:0025710 (Late young adult onset)\n", + " \n", + " \n", + " Onset of disease at an age of greater than or equal to 25 to under 40 years.\n", + " definition of HP:0025710 (Late young adult onset)\n", + " \n", + " \n", + " Bracket epiphysis of the proximal phalanx of the 5th toe\n", + " definition of HP:0100225 (Bracket epiphysis of the proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " #Bracket shaped end part of the innermost bone of the little toe #Bracket shaped end part of the innermost bone of the pinkie toe #Bracket shaped end part of the innermost bone of the pinky toe\n", + " definition of HP:0100225 (Bracket epiphysis of the proximal phalanx of the 5th toe)\n", + " \n", + " \n", + " Abnormality of ethmoid sinus\n", + " definition of HP:3000040 (Abnormality of ethmoid sinus)\n", + " \n", + " \n", + " An abnormality of an ethmoid sinus.\n", + " definition of HP:3000040 (Abnormality of ethmoid sinus)\n", + " \n", + " \n", + " #Abnormality of ethmoidal air cells\n", + " definition of HP:3000040 (Abnormality of ethmoid sinus)\n", + " \n", + " \n", + " Recurrent Staphylococcus aureus infections\n", + " definition of HP:0002726 (Recurrent Staphylococcus aureus infections)\n", + " \n", + " \n", + " Increased susceptibility to Staphylococcus aureus infections, as manifested by recurrent episodes of Staphylococcus aureus infection.\n", + " definition of HP:0002726 (Recurrent Staphylococcus aureus infections)\n", + " \n", + " \n", + " #Staphylococcus aureus infections, recurrent\n", + " definition of HP:0002726 (Recurrent Staphylococcus aureus infections)\n", + " \n", + " \n", + " Focal aware autonomic seizure with pupillary dilation/constriction\n", + " definition of HP:0032768 (Focal aware autonomic seizure with pupillary dilation/constriction)\n", + " \n", + " \n", + " A focal autonomic seizure with pupillary dilation / constriction characterized by retained awareness throughout the seizure.\n", + " definition of HP:0032768 (Focal aware autonomic seizure with pupillary dilation/constriction)\n", + " \n", + " \n", + " Neonatal bilateral clonic seizure\n", + " definition of HP:0032819 (Neonatal bilateral clonic seizure)\n", + " \n", + " \n", + " Neonatal bilateral clonic seizure is a type of neonatal electro-clinical clonic seizure where the clonic jerking is bilateral.\n", + " definition of HP:0032819 (Neonatal bilateral clonic seizure)\n", + " \n", + " \n", + " Anti-ribosome Po antibody positivity\n", + " definition of HP:0034076 (Anti-ribosome Po antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ribosome Po.\n", + " definition of HP:0034076 (Anti-ribosome Po antibody positivity)\n", + " \n", + " \n", + " Abnormal total iron binding capacity\n", + " definition of HP:0033212 (Abnormal total iron binding capacity)\n", + " \n", + " \n", + " Any deviation from the normal total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added.\n", + " definition of HP:0033212 (Abnormal total iron binding capacity)\n", + " \n", + " \n", + " Lymphopenia\n", + " definition of HP:0001888 (Lymphopenia)\n", + " \n", + " \n", + " A reduced number of lymphocytes in the blood.\n", + " definition of HP:0001888 (Lymphopenia)\n", + " \n", + " \n", + " #Absolute lymphocyte count decrease #Decreased blood lymphocyte number #Low lymphocyte number #Lymphocytopenia\n", + " definition of HP:0001888 (Lymphopenia)\n", + " \n", + " \n", + " Ivory epiphyses of the 5th toe\n", + " definition of HP:0100083 (Ivory epiphyses of the 5th toe)\n", + " \n", + " \n", + " Epiphyses of the 5th toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.\n", + " definition of HP:0100083 (Ivory epiphyses of the 5th toe)\n", + " \n", + " \n", + " #Increased bone density of end part of the little toe bone #Increased bone density of end part of the pinkie toe bone #Increased bone density of end part of the pinky toe bone\n", + " definition of HP:0100083 (Ivory epiphyses of the 5th toe)\n", + " \n", + " \n", + " Elevated diastolic blood pressure\n", + " definition of HP:0005117 (Elevated diastolic blood pressure)\n", + " \n", + " \n", + " Abnormal increase in diastolic blood pressure.\n", + " definition of HP:0005117 (Elevated diastolic blood pressure)\n", + " \n", + " \n", + " #Elevated diastolic BP\n", + " definition of HP:0005117 (Elevated diastolic blood pressure)\n", + " \n", + " \n", + " Anterior predominant pachygyria with 5-10 mm cortical thickness\n", + " definition of HP:0020188 (Anterior predominant pachygyria with 5-10 mm cortical thickness)\n", + " \n", + " \n", + " Pachygyria with cortical thickness between 5 and 10 mm with and a posterior predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically over 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria.\n", + " definition of HP:0020188 (Anterior predominant pachygyria with 5-10 mm cortical thickness)\n", + " \n", + " \n", + " Elevated CSF amyloid concentration\n", + " definition of HP:0030862 (Elevated CSF amyloid concentration)\n", + " \n", + " \n", + " Increased concentration of amyloid in the cerebrospinal fluid (CSF).\n", + " definition of HP:0030862 (Elevated CSF amyloid concentration)\n", + " \n", + " \n", + " #Elevated CSF amyloid level\n", + " definition of HP:0030862 (Elevated CSF amyloid concentration)\n", + " \n", + " \n", + " Tubular microcystic change\n", + " definition of HP:0032962 (Tubular microcystic change)\n", + " \n", + " \n", + " Dilated renal tubules (over twice the diameter of a normal proximal tubule) containing eosinophilic amorphous material. This feature is generally accompanied by scalloping of the cast profile. The epithelium lining the microcyst is generally flattened and does not reveal brush border.\n", + " definition of HP:0032962 (Tubular microcystic change)\n", + " \n", + " \n", + " Sunken fontanelle\n", + " definition of HP:6000084 (Sunken fontanelle)\n", + " \n", + " \n", + " Fontanelle that is more deeply set than normal. Fontanelles are normally relatively firm and curve only slightly inward. A sunken fontanelle can be a sign of dehydration or marasmus.\n", + " definition of HP:6000084 (Sunken fontanelle)\n", + " \n", + " \n", + " Facial synkinesis\n", + " definition of HP:0034979 (Facial synkinesis)\n", + " \n", + " \n", + " Unintentional movement in one area of the face produced during intentional movement of another area of the face.\n", + " definition of HP:0034979 (Facial synkinesis)\n", + " \n", + " \n", + " Atrophic scars\n", + " definition of HP:0001075 (Atrophic scars)\n", + " \n", + " \n", + " Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin.\n", + " definition of HP:0001075 (Atrophic scars)\n", + " \n", + " \n", + " #Sunken or indented skin due to damage #Thin, atrophic scars\n", + " definition of HP:0001075 (Atrophic scars)\n", + " \n", + " \n", + " Spontaneous hemolytic crises\n", + " definition of HP:0005525 (Spontaneous hemolytic crises)\n", + " \n", + " \n", + " Angiokeratoma corporis diffusum\n", + " definition of HP:0001071 (Angiokeratoma corporis diffusum)\n", + " \n", + " \n", + " Angiokeratoma corporis diffusum (ACD) is typically characterized by innumerable small red to black papules which occur in clusters and are situated symmetrically in the bathing trunks area. The number of lesions and the extension of the body increase steadily with time so that generalization and mucosal involvement are common. The single lesion begins with a minute reddish papule which enlarges to up to 10 mm in diameter, becomes dark red to black with a discrete keratotic overgrowth. Histologically, the papules are characterized by superficial dilated capillaries in papillary dermis with epidermal proliferation.\n", + " definition of HP:0001071 (Angiokeratoma corporis diffusum)\n", + " \n", + " \n", + " #Fabry syndrome\n", + " definition of HP:0001071 (Angiokeratoma corporis diffusum)\n", + " \n", + " \n", + " Weak voice\n", + " definition of HP:0001621 (Weak voice)\n", + " \n", + " \n", + " Reduced intensity (volume) of speech.\n", + " definition of HP:0001621 (Weak voice)\n", + " \n", + " \n", + " #Quiet voice #Soft voice #Weak voice\n", + " definition of HP:0001621 (Weak voice)\n", + " \n", + " \n", + " Psychomotor deterioration\n", + " definition of HP:0002361 (Psychomotor deterioration)\n", + " \n", + " \n", + " Loss of previously present mental and motor abilities.\n", + " definition of HP:0002361 (Psychomotor deterioration)\n", + " \n", + " \n", + " #Psychomotor degeneration\n", + " definition of HP:0002361 (Psychomotor deterioration)\n", + " \n", + " \n", + " Muscle fiber calsequestrin 1-containing inclusion bodies\n", + " definition of HP:0034940 (Muscle fiber calsequestrin 1-containing inclusion bodies)\n", + " \n", + " \n", + " The presence of inclusion bodies within the cytoplasm of muscle cells that demonstrate immunoreactivity for calsequestrin 1.\n", + " definition of HP:0034940 (Muscle fiber calsequestrin 1-containing inclusion bodies)\n", + " \n", + " \n", + " Contractures of the distal interphalangeal joint of the 5th toe\n", + " definition of HP:0100355 (Contractures of the distal interphalangeal joint of the 5th toe)\n", + " \n", + " \n", + " The distal interphalangeal joint of the 5th toe cannot be straightened actively or passively.\n", + " definition of HP:0100355 (Contractures of the distal interphalangeal joint of the 5th toe)\n", + " \n", + " \n", + " #Contracture of the outermost hinge joint of the 5th toe\n", + " definition of HP:0100355 (Contractures of the distal interphalangeal joint of the 5th toe)\n", + " \n", + " \n", + " Triggered by carbohydrate ingestion\n", + " definition of HP:0025208 (Triggered by carbohydrate ingestion)\n", + " \n", + " \n", + " Applies to a sign or symptom that is provoked or brought about by eating or drinking carbohydrates.\n", + " definition of HP:0025208 (Triggered by carbohydrate ingestion)\n", + " \n", + " \n", + " #Carbohydrate ingestion triggered symptoms #Triggered by carbohydrate ingestion\n", + " definition of HP:0025208 (Triggered by carbohydrate ingestion)\n", + " \n", + " \n", + " Impaired distal proprioception\n", + " definition of HP:0006858 (Impaired distal proprioception)\n", + " \n", + " \n", + " A loss or impairment of the sensation of the relative position of parts of the body and joint position occurring at distal joints.\n", + " definition of HP:0006858 (Impaired distal proprioception)\n", + " \n", + " \n", + " #Distal sensory loss of proprioception\n", + " definition of HP:0006858 (Impaired distal proprioception)\n", + " \n", + " \n", + " Ureteral hypoplasia\n", + " definition of HP:0032464 (Ureteral hypoplasia)\n", + " \n", + " \n", + " Underdevelopment of the ureter.\n", + " definition of HP:0032464 (Ureteral hypoplasia)\n", + " \n", + " \n", + " #Hypoplasia of the ureter #Ureter hypoplasia\n", + " definition of HP:0032464 (Ureteral hypoplasia)\n", + " \n", + " \n", + " Craniofacial cleft\n", + " definition of HP:5201015 (Craniofacial cleft)\n", + " \n", + " \n", + " Congenital abnormality with cleft (gap or opening) in the craniofacial bones. Craniofacial cleft includes facial cleft, orofacial clef, and cleft of the jaw.\n", + " definition of HP:5201015 (Craniofacial cleft)\n", + " \n", + " \n", + " Elevated CSF L-2-hydroxyglutaric acid concentration\n", + " definition of HP:6000509 (Elevated CSF L-2-hydroxyglutaric acid concentration)\n", + " \n", + " \n", + " The concentration of L-2-hydroxyglutaric acid in the cerebrospinal fluid (CSF) is above the upper limit of normal.\n", + " definition of HP:6000509 (Elevated CSF L-2-hydroxyglutaric acid concentration)\n", + " \n", + " \n", + " Elevated urinary glyoxylic acid level\n", + " definition of HP:6000702 (Elevated urinary glyoxylic acid level)\n", + " \n", + " \n", + " The amount of glyoxylic acid in the urine, normalized for urine concentration, is above the upper limit of normal. The conjugate base of glyoxylic acid is known as glyoxylate.\n", + " definition of HP:6000702 (Elevated urinary glyoxylic acid level)\n", + " \n", + " \n", + " #Elevated urinary alpha-ketoacetic acid level #Elevated urinary glyoxylate level #Elevated urinary oxoacetic acid level\n", + " definition of HP:6000702 (Elevated urinary glyoxylic acid level)\n", + " \n", + " \n", + " Lip pit\n", + " definition of HP:0100267 (Lip pit)\n", + " \n", + " \n", + " A depression located on a lip.\n", + " definition of HP:0100267 (Lip pit)\n", + " \n", + " \n", + " Abnormal uvea morphology\n", + " definition of HP:0000553 (Abnormal uvea morphology)\n", + " \n", + " \n", + " An abnormality of the uvea, the vascular layer of the eyeball.\n", + " definition of HP:0000553 (Abnormal uvea morphology)\n", + " \n", + " \n", + " #Abnormality of the uvea\n", + " definition of HP:0000553 (Abnormal uvea morphology)\n", + " \n", + " \n", + " Episodic generalized hypotonia\n", + " definition of HP:0006852 (Episodic generalized hypotonia)\n", + " \n", + " \n", + " The occurrence of repeated episodes of generalized muscular hypotonia.\n", + " definition of HP:0006852 (Episodic generalized hypotonia)\n", + " \n", + " \n", + " #Episodic generalised hypotonia\n", + " definition of HP:0006852 (Episodic generalized hypotonia)\n", + " \n", + " \n", + " Thin nail\n", + " definition of HP:0001816 (Thin nail)\n", + " \n", + " \n", + " Nail that appears thin when viewed on end.\n", + " definition of HP:0001816 (Thin nail)\n", + " \n", + " \n", + " #Thin nail #Thin nails\n", + " definition of HP:0001816 (Thin nail)\n", + " \n", + " \n", + " Mosaic central corneal dystrophy\n", + " definition of HP:0100690 (Mosaic central corneal dystrophy)\n", + " \n", + " \n", + " Increased level of hippuric acid in blood\n", + " definition of HP:0410065 (Increased level of hippuric acid in blood)\n", + " \n", + " \n", + " An increase in the level of hippuric acid in the blood.\n", + " definition of HP:0410065 (Increased level of hippuric acid in blood)\n", + " \n", + " \n", + " #Increased level of N-benzoylglycine in blood\n", + " definition of HP:0410065 (Increased level of hippuric acid in blood)\n", + " \n", + " \n", + " Abnormality of the gallbladder\n", + " definition of HP:0005264 (Abnormality of the gallbladder)\n", + " \n", + " \n", + " An abnormality of the gallbladder.\n", + " definition of HP:0005264 (Abnormality of the gallbladder)\n", + " \n", + " \n", + " #Abnormality of the gallbladder #Anomaly of the gallbladder\n", + " definition of HP:0005264 (Abnormality of the gallbladder)\n", + " \n", + " \n", + " Lethal skeletal dysplasia\n", + " definition of HP:0005716 (Lethal skeletal dysplasia)\n", + " \n", + " \n", + " #Lethal dwarfism identifiable at birth\n", + " definition of HP:0005716 (Lethal skeletal dysplasia)\n", + " \n", + " \n", + " Non-pruritic urticaria\n", + " definition of HP:0011137 (Non-pruritic urticaria)\n", + " \n", + " \n", + " Pale reddish slightly elevated papules and plaques of 0.5-3 cm in diameter and not accompanied by pruritus.\n", + " definition of HP:0011137 (Non-pruritic urticaria)\n", + " \n", + " \n", + " #Non-itchy hives\n", + " definition of HP:0011137 (Non-pruritic urticaria)\n", + " \n", + " \n", + " Tip variant segmental glomerulosclerosis\n", + " definition of HP:0033497 (Tip variant segmental glomerulosclerosis)\n", + " \n", + " \n", + " Segmental solidification of the glomerular tuft characterized by an adhesion at the tip of the glomerular tuft abutting the proximal tubular taek-off can be accompanied by increased extracellular matrix, causing glomerular capillary obliteration at the glomerular tip. Features including hyalinosis, foam cells, hypertrophy of overlying glomerular epithelial cells can also be observed.\n", + " definition of HP:0033497 (Tip variant segmental glomerulosclerosis)\n", + " \n", + " \n", + " #Segmental glomerulosclerosis, tip variant\n", + " definition of HP:0033497 (Tip variant segmental glomerulosclerosis)\n", + " \n", + " \n", + " Aplasia of posterior communicating artery\n", + " definition of HP:0034566 (Aplasia of posterior communicating artery)\n", + " \n", + " \n", + " A developmental anomnaly characterized by the lack of development of the posterior communicating artery.\n", + " definition of HP:0034566 (Aplasia of posterior communicating artery)\n", + " \n", + " \n", + " #Absence of both posterior communicating arteries\n", + " definition of HP:0034566 (Aplasia of posterior communicating artery)\n", + " \n", + " \n", + " Curved distal phalanx of the 4th toe\n", + " definition of HP:0100450 (Curved distal phalanx of the 4th toe)\n", + " \n", + " \n", + " A deviation from the normal straight form of the distal phalanx of the fourth toe.\n", + " definition of HP:0100450 (Curved distal phalanx of the 4th toe)\n", + " \n", + " \n", + " #Curved outermost bone of the 4th toe\n", + " definition of HP:0100450 (Curved distal phalanx of the 4th toe)\n", + " \n", + " \n", + " Vibratory urticaria\n", + " definition of HP:0410138 (Vibratory urticaria)\n", + " \n", + " \n", + " Urticaria in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum.\n", + " definition of HP:0410138 (Vibratory urticaria)\n", + " \n", + " \n", + " Multiflagellar spermatozoa\n", + " definition of HP:0034309 (Multiflagellar spermatozoa)\n", + " \n", + " \n", + " Spermatozoa with multiple flagella attached to the sperm head.\n", + " definition of HP:0034309 (Multiflagellar spermatozoa)\n", + " \n", + " \n", + " #Multi-tailed spermatozoa\n", + " definition of HP:0034309 (Multiflagellar spermatozoa)\n", + " \n", + " \n", + " Prominent ear helix\n", + " definition of HP:0009904 (Prominent ear helix)\n", + " \n", + " \n", + " Abnormally prominent ear helix.\n", + " definition of HP:0009904 (Prominent ear helix)\n", + " \n", + " \n", + " Anal pain\n", + " definition of HP:0500005 (Anal pain)\n", + " \n", + " \n", + " Pain in and around the anus or rectum (perianal region).\n", + " definition of HP:0500005 (Anal pain)\n", + " \n", + " \n", + " #Anal pain #Anorectal pain #Proctalgia #Rectal pain\n", + " definition of HP:0500005 (Anal pain)\n", + " \n", + " \n", + " Decreased serum insulin-like growth factor 1\n", + " definition of HP:0030353 (Decreased serum insulin-like growth factor 1)\n", + " \n", + " \n", + " A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation.\n", + " definition of HP:0030353 (Decreased serum insulin-like growth factor 1)\n", + " \n", + " \n", + " Fetal procarbazine exposure\n", + " definition of HP:0034845 (Fetal procarbazine exposure)\n", + " \n", + " \n", + " A history of exposure during pregnancy of the mother of a fetus or child to procarbazine.\n", + " definition of HP:0034845 (Fetal procarbazine exposure)\n", + " \n", + " \n", + " #Maternal procarbazine exposure #Procarbazine exposure during gestation\n", + " definition of HP:0034845 (Fetal procarbazine exposure)\n", + " \n", + " \n", + " Focal aware cognitive seizure with left-right confusion\n", + " definition of HP:0032706 (Focal aware cognitive seizure with left-right confusion)\n", + " \n", + " \n", + " A focal cognitive seizure with left-right confusion characterized by retained awareness throughout the seizure.\n", + " definition of HP:0032706 (Focal aware cognitive seizure with left-right confusion)\n", + " \n", + " \n", + " Abnormality of the curvature of the cornea\n", + " definition of HP:0100691 (Abnormality of the curvature of the cornea)\n", + " \n", + " \n", + " Paronychia\n", + " definition of HP:0001818 (Paronychia)\n", + " \n", + " \n", + " The nail disease paronychia is an often-tender bacterial or fungal hand infection or foot infection where the nail and skin meet at the side or the base of a finger or toenail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia).\n", + " definition of HP:0001818 (Paronychia)\n", + " \n", + " \n", + " Proximal/middle symphalangism of 5th toe\n", + " definition of HP:0100482 (Proximal/middle symphalangism of 5th toe)\n", + " \n", + " \n", + " Bony fusion of the middle and proximal phalanges of the 5th toe.\n", + " definition of HP:0100482 (Proximal/middle symphalangism of 5th toe)\n", + " \n", + " \n", + " #Fused innermost and middle little toe bones #Fused innermost and middle pinkie toe bones #Fused innermost and middle pinky toe bones #Symphalangism of the middle and proximal phalanges of the 5th toe\n", + " definition of HP:0100482 (Proximal/middle symphalangism of 5th toe)\n", + " \n", + " \n", + " Pyoderma\n", + " definition of HP:0000999 (Pyoderma)\n", + " \n", + " \n", + " Any manifestation of a skin disease associated with the production of pus.\n", + " definition of HP:0000999 (Pyoderma)\n", + " \n", + " \n", + " #Pus-filled lesion\n", + " definition of HP:0000999 (Pyoderma)\n", + " \n", + " \n", + " Anal canal squamous cell carcinoma\n", + " definition of HP:0030438 (Anal canal squamous cell carcinoma)\n", + " \n", + " \n", + " A squamous cell carcinoma that originates in the anal canal.\n", + " definition of HP:0030438 (Anal canal squamous cell carcinoma)\n", + " \n", + " \n", + " Micrographia\n", + " definition of HP:0031908 (Micrographia)\n", + " \n", + " \n", + " Abnormally small-sized handwriting is formally defined as an impairment of fine motor skills, which mainly manifests as a progressive or stable reduction in amplitude during a writing task.\n", + " definition of HP:0031908 (Micrographia)\n", + " \n", + " \n", + " Increased male libido\n", + " definition of HP:0040305 (Increased male libido)\n", + " \n", + " \n", + " Increased desire for sexual activity on the part of a male.\n", + " definition of HP:0040305 (Increased male libido)\n", + " \n", + " \n", + " Tympanic membrane bulla\n", + " definition of HP:6000422 (Tympanic membrane bulla)\n", + " \n", + " \n", + " Presence of blisters (bullae) on the tympanic membrane, often accompanied by fever, thickening, and erythematous appearance of the tympanic membrane, decreased or absent light reflex, and decreased mobility.\n", + " definition of HP:6000422 (Tympanic membrane bulla)\n", + " \n", + " \n", + " #Bullous myringitis #Tympanic membrane blister\n", + " definition of HP:6000422 (Tympanic membrane bulla)\n", + " \n", + " \n", + " Corneal scarring\n", + " definition of HP:0000559 (Corneal scarring)\n", + " \n", + " \n", + " Absent first metatarsal\n", + " definition of HP:0010104 (Absent first metatarsal)\n", + " \n", + " \n", + " A developmental defect characterized by the absence of the first metatarsal bone.\n", + " definition of HP:0010104 (Absent first metatarsal)\n", + " \n", + " \n", + " #Absent 1st long bone of foot #Absent 1st metatarsal #Aplasia of the 1st metatarsal\n", + " definition of HP:0010104 (Absent first metatarsal)\n", + " \n", + " \n", + " Anti-GM3 antibody positivity\n", + " definition of HP:0034133 (Anti-GM3 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside GM3.\n", + " definition of HP:0034133 (Anti-GM3 antibody positivity)\n", + " \n", + " \n", + " Abnormal pulmonary alveolar system morphology\n", + " definition of HP:0033137 (Abnormal pulmonary alveolar system morphology)\n", + " \n", + " \n", + " A structural abnormality of the pulmonary acinus, alveolar parenchyma, or alveoli.\n", + " definition of HP:0033137 (Abnormal pulmonary alveolar system morphology)\n", + " \n", + " \n", + " Venous malformation\n", + " definition of HP:0012721 (Venous malformation)\n", + " \n", + " \n", + " A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region.\n", + " definition of HP:0012721 (Venous malformation)\n", + " \n", + " \n", + " #Venous malformations\n", + " definition of HP:0012721 (Venous malformation)\n", + " \n", + " \n", + " Renal cortical necrosis\n", + " definition of HP:0025418 (Renal cortical necrosis)\n", + " \n", + " \n", + " Patchy or diffuse ischemic destruction of all the elements of renal cortex resulting from significantly diminished renal arterial perfusion. Coagulative necrosis may be present, involving all tubular segments and glomeruli. Nuclei may be pale and pyknotic, or may no longer be apparent. Thrombi may be present in vessels at the edge of the infarct.\n", + " definition of HP:0025418 (Renal cortical necrosis)\n", + " \n", + " \n", + " #Necrosis of the kidney cortex\n", + " definition of HP:0025418 (Renal cortical necrosis)\n", + " \n", + " \n", + " Crumpled long bones\n", + " definition of HP:0006367 (Crumpled long bones)\n", + " \n", + " \n", + " An crumpled radiographic appearance of the long bones, as if the long bone had been crushed together producing irregularities. This feature is the result of multiple fractures and repeated rounds of ineffective healing, as can be seen for instance in severe forms of osteogenesis imperfecta.\n", + " definition of HP:0006367 (Crumpled long bones)\n", + " \n", + " \n", + " #Crumpled long bones\n", + " definition of HP:0006367 (Crumpled long bones)\n", + " \n", + " \n", + " PR segment elevation\n", + " definition of HP:0031597 (PR segment elevation)\n", + " \n", + " \n", + " An increase in voltage of the PR segment above baseline.\n", + " definition of HP:0031597 (PR segment elevation)\n", + " \n", + " \n", + " #PR interval elevation #PTa elevation\n", + " definition of HP:0031597 (PR segment elevation)\n", + " \n", + " \n", + " Hyperkeratosis\n", + " definition of HP:0000962 (Hyperkeratosis)\n", + " \n", + " \n", + " Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.\n", + " definition of HP:0000962 (Hyperkeratosis)\n", + " \n", + " \n", + " Fractured upper limb segment\n", + " definition of HP:0041118 (Fractured upper limb segment)\n", + " \n", + " \n", + " A partial or complete breakage of the upper limb segment.\n", + " definition of HP:0041118 (Fractured upper limb segment)\n", + " \n", + " \n", + " #bone upper limb segment\n", + " definition of HP:0041118 (Fractured upper limb segment)\n", + " \n", + " \n", + " Bullet-shaped distal phalanx of the 4th toe\n", + " definition of HP:0100441 (Bullet-shaped distal phalanx of the 4th toe)\n", + " \n", + " \n", + " An abnormal morphology of the distal phalanx of the fourth toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.\n", + " definition of HP:0100441 (Bullet-shaped distal phalanx of the 4th toe)\n", + " \n", + " \n", + " #Bullet-shaped outermost bone of the 4th toe\n", + " definition of HP:0100441 (Bullet-shaped distal phalanx of the 4th toe)\n", + " \n", + " \n", + " Bullet-shaped proximal phalanx of the 5th finger\n", + " definition of HP:0009228 (Bullet-shaped proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 5th finger is affected.\n", + " definition of HP:0009228 (Bullet-shaped proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " #Bullet-shaped innermost little finger bone #Bullet-shaped innermost pinkie finger bone #Bullet-shaped innermost pinky finger bone\n", + " definition of HP:0009228 (Bullet-shaped proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " Multiple mononeuropathy\n", + " definition of HP:0032018 (Multiple mononeuropathy)\n", + " \n", + " \n", + " A type of peripheral neuropathy that happens when there is damage to two or more different nerve areas characterized by peripheral neuropathy of both the motor and sensory nerves of at least two different nerve trunks. Different nerves are affected either simultaneously or sequentially.\n", + " definition of HP:0032018 (Multiple mononeuropathy)\n", + " \n", + " \n", + " #Mononeuritis multiplex\n", + " definition of HP:0032018 (Multiple mononeuropathy)\n", + " \n", + " \n", + " Reduced epidermal integrin alpha6beta4 protein expression\n", + " definition of HP:0034579 (Reduced epidermal integrin alpha6beta4 protein expression)\n", + " \n", + " \n", + " #Skin biopsy: integrin alpha6beta4 antibody staining abnormal or absent\n", + " definition of HP:0034579 (Reduced epidermal integrin alpha6beta4 protein expression)\n", + " \n", + " \n", + " Increased phytanic acid:pristanic acid ratio\n", + " definition of HP:0034449 (Increased phytanic acid:pristanic acid ratio)\n", + " \n", + " \n", + " An elevation above the normal ratio of blood phytanic acid concentration to pristanic acid concentration.\n", + " definition of HP:0034449 (Increased phytanic acid:pristanic acid ratio)\n", + " \n", + " \n", + " #Phytanic acid to pristanic acid ratio high\n", + " definition of HP:0034449 (Increased phytanic acid:pristanic acid ratio)\n", + " \n", + " \n", + " Diffuse pancreatic islet hyperplasia\n", + " definition of HP:0031224 (Diffuse pancreatic islet hyperplasia)\n", + " \n", + " \n", + " Hyperplasia of the islets of Langerhans with a generalized distribution.\n", + " definition of HP:0031224 (Diffuse pancreatic islet hyperplasia)\n", + " \n", + " \n", + " Elevated urinary quinolinic acid level\n", + " definition of HP:6000335 (Elevated urinary quinolinic acid level)\n", + " \n", + " \n", + " The amount of quinolinic acid in the urine, normalized for urine concentration, is above the upper limit of normal. Quinolinic acids is a pyridinedicarboxylic acid that is pyridine substituted by carboxy groups at positions 2 and 3. It is a metabolite of tryptophan.\n", + " definition of HP:6000335 (Elevated urinary quinolinic acid level)\n", + " \n", + " \n", + " Severe adenovirus infection\n", + " definition of HP:0031694 (Severe adenovirus infection)\n", + " \n", + " \n", + " An unusually severe adenovirus infection.\n", + " definition of HP:0031694 (Severe adenovirus infection)\n", + " \n", + " \n", + " Perioral radial furrowing\n", + " definition of HP:0032099 (Perioral radial furrowing)\n", + " \n", + " \n", + " The presence of radial grooves in the skin surrounding the mouth (see Figure 4 of PMID:27833976).\n", + " definition of HP:0032099 (Perioral radial furrowing)\n", + " \n", + " \n", + " Lower limb amyotrophy\n", + " definition of HP:0007210 (Lower limb amyotrophy)\n", + " \n", + " \n", + " Muscular atrophy affecting the lower limb.\n", + " definition of HP:0007210 (Lower limb amyotrophy)\n", + " \n", + " \n", + " Desquamation of skin soon after birth\n", + " definition of HP:0007549 (Desquamation of skin soon after birth)\n", + " \n", + " \n", + " Prominent superior crus of antihelix\n", + " definition of HP:0011247 (Prominent superior crus of antihelix)\n", + " \n", + " \n", + " Increased protrusion of the superior crus relative to the prominence of a normal antihelix stem.\n", + " definition of HP:0011247 (Prominent superior crus of antihelix)\n", + " \n", + " \n", + " #Hyperplastic superior crus of antihelix #Hypertrophic superior crus of antihelix\n", + " definition of HP:0011247 (Prominent superior crus of antihelix)\n", + " \n", + " \n", + " Gastric hypertrophy\n", + " definition of HP:0005207 (Gastric hypertrophy)\n", + " \n", + " \n", + " Hypertrophy of the stomach.\n", + " definition of HP:0005207 (Gastric hypertrophy)\n", + " \n", + " \n", + " Marcus Gunn jaw winking synkinesis\n", + " definition of HP:0025186 (Marcus Gunn jaw winking synkinesis)\n", + " \n", + " \n", + " Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva maneuver and even by breathing.\n", + " definition of HP:0025186 (Marcus Gunn jaw winking synkinesis)\n", + " \n", + " \n", + " #Marcus Gunn jaw-winking syndrome #Pterygoid-levator synkinesis #Trigemino-oculomotor synkinesis\n", + " definition of HP:0025186 (Marcus Gunn jaw winking synkinesis)\n", + " \n", + " \n", + " Short upper lip\n", + " definition of HP:0000188 (Short upper lip)\n", + " \n", + " \n", + " Decreased width of the upper lip.\n", + " definition of HP:0000188 (Short upper lip)\n", + " \n", + " \n", + " #Decreased height of upper lip #Decreased upper labial height #Decreased upper labial length #Decreased vertical length of upper lip #Short upper lip #Shortening of upper lip #Vertical deficiency of upper lip\n", + " definition of HP:0000188 (Short upper lip)\n", + " \n", + " \n", + " Endocarditis\n", + " definition of HP:0100584 (Endocarditis)\n", + " \n", + " \n", + " An inflammation of the endocardium, the inner layer of the heart, which usually involves the heart valves.\n", + " definition of HP:0100584 (Endocarditis)\n", + " \n", + " \n", + " Episodic hypoventilation\n", + " definition of HP:0004881 (Episodic hypoventilation)\n", + " \n", + " \n", + " #Episodic slow breathing #Episodic under breathing\n", + " definition of HP:0004881 (Episodic hypoventilation)\n", + " \n", + " \n", + " EEG with constitutional variants\n", + " definition of HP:0011176 (EEG with constitutional variants)\n", + " \n", + " \n", + " An EEG with constitutional variants contains waves that are rare or unusual but not generally pathologic.\n", + " definition of HP:0011176 (EEG with constitutional variants)\n", + " \n", + " \n", + " Pleural mesothelioma\n", + " definition of HP:0100002 (Pleural mesothelioma)\n", + " \n", + " \n", + " A malignant mesothelioma originating from cells of the pleura (the thin layer of mesothelium lining the lungs). Pleural mesothelioma is the most common form of mesothelioma.\n", + " definition of HP:0100002 (Pleural mesothelioma)\n", + " \n", + " \n", + " Cerebellar hypoplasia\n", + " definition of HP:0001321 (Cerebellar hypoplasia)\n", + " \n", + " \n", + " Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time.\n", + " definition of HP:0001321 (Cerebellar hypoplasia)\n", + " \n", + " \n", + " #Congenital cerebellar hypoplasia #Hypoplasia of cerebellum #Hypoplastic cerebellum #Small cerebellum #Underdeveloped cerebellum\n", + " definition of HP:0001321 (Cerebellar hypoplasia)\n", + " \n", + " \n", + " Mutism\n", + " definition of HP:0002300 (Mutism)\n", + " \n", + " \n", + " Complete lack of speech or verbal communication in a person despite attempts to engage in conversation. Mutism as a phenomena assumes the individual has previous capacity for speech and in the pediatric population it assumes that the person is past the age of typical language development.\n", + " definition of HP:0002300 (Mutism)\n", + " \n", + " \n", + " #Inability to speak #Muteness\n", + " definition of HP:0002300 (Mutism)\n", + " \n", + " \n", + " Metatarsal periosteal thickening\n", + " definition of HP:0008074 (Metatarsal periosteal thickening)\n", + " \n", + " \n", + " Abnormality of inferior alveolar nerve\n", + " definition of HP:3000055 (Abnormality of inferior alveolar nerve)\n", + " \n", + " \n", + " An abnormality of an inferior alveolar nerve.\n", + " definition of HP:3000055 (Abnormality of inferior alveolar nerve)\n", + " \n", + " \n", + " Abnormal circulating serine concentration\n", + " definition of HP:0012278 (Abnormal circulating serine concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of serine in the blood circulation.\n", + " definition of HP:0012278 (Abnormal circulating serine concentration)\n", + " \n", + " \n", + " Pear-shaped vertebrae\n", + " definition of HP:0004566 (Pear-shaped vertebrae)\n", + " \n", + " \n", + " Bulbous appearance of the anterior vertebral bodies, such that the vertebral bodies have the greatest vertical height anteriorly as well as bulbous anterior superior-inferior contours.\n", + " definition of HP:0004566 (Pear-shaped vertebrae)\n", + " \n", + " \n", + " #Pear-shaped vertebral bodies\n", + " definition of HP:0004566 (Pear-shaped vertebrae)\n", + " \n", + " \n", + " Elevated circulating beta chorionic gonadotropin concentration\n", + " definition of HP:6000485 (Elevated circulating beta chorionic gonadotropin concentration)\n", + " \n", + " \n", + " The concentration of beta chorionic gonadotropin in the blood circulation is above the upper limit of normal.\n", + " definition of HP:6000485 (Elevated circulating beta chorionic gonadotropin concentration)\n", + " \n", + " \n", + " Asymmetry of the nares\n", + " definition of HP:0009930 (Asymmetry of the nares)\n", + " \n", + " \n", + " Asymmetry or size difference between the left and right nostril.\n", + " definition of HP:0009930 (Asymmetry of the nares)\n", + " \n", + " \n", + " #Asymmetry of nostrils #Crooked nostrils #Unequal nostril shape #Unequal nostril size #Uneven nostril shape #Uneven nostril size\n", + " definition of HP:0009930 (Asymmetry of the nares)\n", + " \n", + " \n", + " Cutaneous cyst\n", + " definition of HP:0025245 (Cutaneous cyst)\n", + " \n", + " \n", + " A hollow mass located in the skin that is surrounded by an epithelium-lined wall and is well demarcated from the adjacent tissue. Cysts are often said to be sac-like and may contain serous liquid or semisolid material.\n", + " definition of HP:0025245 (Cutaneous cyst)\n", + " \n", + " \n", + " Small epiphysis of the 1st metatarsal\n", + " definition of HP:0010157 (Small epiphysis of the 1st metatarsal)\n", + " \n", + " \n", + " #Small end part of the 1st long bone of foot\n", + " definition of HP:0010157 (Small epiphysis of the 1st metatarsal)\n", + " \n", + " \n", + " Abnormal enteric neuron morphology\n", + " definition of HP:0025029 (Abnormal enteric neuron morphology)\n", + " \n", + " \n", + " #Abnormality of enteric neuron morphology\n", + " definition of HP:0025029 (Abnormal enteric neuron morphology)\n", + " \n", + " \n", + " Reduced circulating interleukin 10 concentration\n", + " definition of HP:0034163 (Reduced circulating interleukin 10 concentration)\n", + " \n", + " \n", + " An abnormally decreased concentration of interleukin 10 in the blood circulation.\n", + " definition of HP:0034163 (Reduced circulating interleukin 10 concentration)\n", + " \n", + " \n", + " Abnormality of the proximal phalanx of the thumb\n", + " definition of HP:0009618 (Abnormality of the proximal phalanx of the thumb)\n", + " \n", + " \n", + " An anomaly of the shape or form of the proximal phalanx of the thumb.\n", + " definition of HP:0009618 (Abnormality of the proximal phalanx of the thumb)\n", + " \n", + " \n", + " #Abnormal innermost thumb bone #Abnormality of proximal thumb phalanx\n", + " definition of HP:0009618 (Abnormality of the proximal phalanx of the thumb)\n", + " \n", + " \n", + " Rectal fistula\n", + " definition of HP:0100590 (Rectal fistula)\n", + " \n", + " \n", + " The presence of a fistula affecting the rectum.\n", + " definition of HP:0100590 (Rectal fistula)\n", + " \n", + " \n", + " Increased blood drug concentration\n", + " definition of HP:0020170 (Increased blood drug concentration)\n", + " \n", + " \n", + " High plasma concentration of a drug as compared to previously measured thresholds given the expected concentration for the applied dosage regime.\n", + " definition of HP:0020170 (Increased blood drug concentration)\n", + " \n", + " \n", + " #Elevated blood drug concentration #Elevated plasma drug concentration #Elevated serum drug concentrations #Increased plasma drug concentration #Increased serum drug concentration\n", + " definition of HP:0020170 (Increased blood drug concentration)\n", + " \n", + " \n", + " Dysplastic patella\n", + " definition of HP:0006446 (Dysplastic patella)\n", + " \n", + " \n", + " Anesthetic-induced rhabdomylosis\n", + " definition of HP:0011439 (Anesthetic-induced rhabdomylosis)\n", + " \n", + " \n", + " Rhabdomyolysis induced by anesthesia.\n", + " definition of HP:0011439 (Anesthetic-induced rhabdomylosis)\n", + " \n", + " \n", + " Otosclerosis\n", + " definition of HP:0000362 (Otosclerosis)\n", + " \n", + " \n", + " In otosclerosis, a callus of bone accumulates on the stapes creating a partial fixation. This limits the movement of the stapes bone, which results in hearing loss.\n", + " definition of HP:0000362 (Otosclerosis)\n", + " \n", + " \n", + " Small intestinal stenosis\n", + " definition of HP:0012848 (Small intestinal stenosis)\n", + " \n", + " \n", + " The narrowing or partial blockage of a portion of the small intestine.\n", + " definition of HP:0012848 (Small intestinal stenosis)\n", + " \n", + " \n", + " #Narrowing of small intestine\n", + " definition of HP:0012848 (Small intestinal stenosis)\n", + " \n", + " \n", + " Lymph node xanthomatosis\n", + " definition of HP:0034628 (Lymph node xanthomatosis)\n", + " \n", + " \n", + " Lipid deposits localized within one or more lymph nodes. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia.\n", + " definition of HP:0034628 (Lymph node xanthomatosis)\n", + " \n", + " \n", + " #Lymph node xanthomas\n", + " definition of HP:0034628 (Lymph node xanthomatosis)\n", + " \n", + " \n", + " Total colonic aganglionosis\n", + " definition of HP:0011286 (Total colonic aganglionosis)\n", + " \n", + " \n", + " A type of aganglionic megacolon in which the aganglionic segment comprises the entire colon.\n", + " definition of HP:0011286 (Total colonic aganglionosis)\n", + " \n", + " \n", + " Hepatic fibrosis\n", + " definition of HP:0001395 (Hepatic fibrosis)\n", + " \n", + " \n", + " The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.\n", + " definition of HP:0001395 (Hepatic fibrosis)\n", + " \n", + " \n", + " #Liver fibrosis\n", + " definition of HP:0001395 (Hepatic fibrosis)\n", + " \n", + " \n", + " Auspitz sign\n", + " definition of HP:6000724 (Auspitz sign)\n", + " \n", + " \n", + " The appearance of small bleeding points after successive layers of scale have been removed from the surface of psoriatic papules or plaques.\n", + " definition of HP:6000724 (Auspitz sign)\n", + " \n", + " \n", + " Periorbital edema\n", + " definition of HP:0100539 (Periorbital edema)\n", + " \n", + " \n", + " Edema affecting the region situated around the orbit of the eye.\n", + " definition of HP:0100539 (Periorbital edema)\n", + " \n", + " \n", + " #Periorbital cellulitis #Periorbital oedema\n", + " definition of HP:0100539 (Periorbital edema)\n", + " \n", + " \n", + " Oculoclonic status epilepticus\n", + " definition of HP:0032866 (Oculoclonic status epilepticus)\n", + " \n", + " \n", + " A type of focal motor status epilepticus characterized by repetitive and rapid saccades, in association with epileptic discharges.\n", + " definition of HP:0032866 (Oculoclonic status epilepticus)\n", + " \n", + " \n", + " Abnormal lacrimal punctum morphology\n", + " definition of HP:0011479 (Abnormal lacrimal punctum morphology)\n", + " \n", + " \n", + " An abnormality of the lacrimal punctum, an opening on the eyelid close to the medial canthus that drains tears from the conjunctival sac into the lacrimal duct in the same eyelid.\n", + " definition of HP:0011479 (Abnormal lacrimal punctum morphology)\n", + " \n", + " \n", + " #Abnormality of the lacrimal punctum\n", + " definition of HP:0011479 (Abnormal lacrimal punctum morphology)\n", + " \n", + " \n", + " Increased circulating purine concentration\n", + " definition of HP:0004368 (Increased circulating purine concentration)\n", + " \n", + " \n", + " Abnormally elevated concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring.\n", + " definition of HP:0004368 (Increased circulating purine concentration)\n", + " \n", + " \n", + " #Increased purine level #Increased purine levels\n", + " definition of HP:0004368 (Increased circulating purine concentration)\n", + " \n", + " \n", + " Fractured fused metatarsal bones 2-4\n", + " definition of HP:0041215 (Fractured fused metatarsal bones 2-4)\n", + " \n", + " \n", + " A partial or complete breakage of the fused metatarsal bones 2-4.\n", + " definition of HP:0041215 (Fractured fused metatarsal bones 2-4)\n", + " \n", + " \n", + " #bone fused metatarsal bones 2-4\n", + " definition of HP:0041215 (Fractured fused metatarsal bones 2-4)\n", + " \n", + " \n", + " Astasia\n", + " definition of HP:0020037 (Astasia)\n", + " \n", + " \n", + " A postural abnormality characterized by the inability to stand without external support despite having sufficient muscle strength.\n", + " definition of HP:0020037 (Astasia)\n", + " \n", + " \n", + " Restless legs\n", + " definition of HP:0012452 (Restless legs)\n", + " \n", + " \n", + " Restless Leg Syndrome (RLS) is a condition characterized by an uncomfortable and restless sensation in the legs that occurs after going to bed, often leading to insomnia.\n", + " definition of HP:0012452 (Restless legs)\n", + " \n", + " \n", + " #Restless legs syndrome #Tachyathetosis\n", + " definition of HP:0012452 (Restless legs)\n", + " \n", + " \n", + " Acute respiratory distress syndrome\n", + " definition of HP:0033677 (Acute respiratory distress syndrome)\n", + " \n", + " \n", + " Acute respiratory distress syndrome (ARDS) is defined as an acute disorder that starts within seven days of the inciting event and is characterized by bilateral lung infiltrates and severe progressive hypoxemia in the absence of any evidence of cardiogenic pulmonary edema. ARDS is defined by the patient's oxygen in arterial blood (PaO2) to the fraction of the oxygen in the inspired air (FiO2). These patients have a PaO2/FiO2 ratio of less than 300.\n", + " definition of HP:0033677 (Acute respiratory distress syndrome)\n", + " \n", + " \n", + " #ARDS\n", + " definition of HP:0033677 (Acute respiratory distress syndrome)\n", + " \n", + " \n", + " Continuous heart murmur\n", + " definition of HP:0031670 (Continuous heart murmur)\n", + " \n", + " \n", + " A murmur that occurs in both systole and diastole.\n", + " definition of HP:0031670 (Continuous heart murmur)\n", + " \n", + " \n", + " Hypoplastic iris stroma\n", + " definition of HP:0007990 (Hypoplastic iris stroma)\n", + " \n", + " \n", + " Underdevelopment of the stroma of iris.\n", + " definition of HP:0007990 (Hypoplastic iris stroma)\n", + " \n", + " \n", + " #Hypoplastic iris stoma #Iris stromal hypoplasia #Underdeveloped iris stroma\n", + " definition of HP:0007990 (Hypoplastic iris stroma)\n", + " \n", + " \n", + " Vulvar hemangioma\n", + " definition of HP:0410272 (Vulvar hemangioma)\n", + " \n", + " \n", + " A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the vulva.\n", + " definition of HP:0410272 (Vulvar hemangioma)\n", + " \n", + " \n", + " Absent germinal center tingible body macrophages\n", + " definition of HP:0020263 (Absent germinal center tingible body macrophages)\n", + " \n", + " \n", + " Lack of observable tingible body macrophages (TBMs) in germinal centers (GCs) of secondary lymphoid follicles. TBMs represent unique, large phagocytic cells that reside and are a subset of mononuclear phagocytes.\n", + " definition of HP:0020263 (Absent germinal center tingible body macrophages)\n", + " \n", + " \n", + " Hypogonadotropic hypogonadism\n", + " definition of HP:0000044 (Hypogonadotropic hypogonadism)\n", + " \n", + " \n", + " Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH).\n", + " definition of HP:0000044 (Hypogonadotropic hypogonadism)\n", + " \n", + " \n", + " #Hypogonadotrophic hypogonadism #Low gonadotropins (secondary hypogonadism)\n", + " definition of HP:0000044 (Hypogonadotropic hypogonadism)\n", + " \n", + " \n", + " Cupped ribs\n", + " definition of HP:0000887 (Cupped ribs)\n", + " \n", + " \n", + " Wide, concave rib end.\n", + " definition of HP:0000887 (Cupped ribs)\n", + " \n", + " \n", + " #Cupped ribs #Rib cupping\n", + " definition of HP:0000887 (Cupped ribs)\n", + " \n", + " \n", + " Ovarian neoplasm\n", + " definition of HP:0100615 (Ovarian neoplasm)\n", + " \n", + " \n", + " A tumor (abnormal growth of tissue) of the ovary.\n", + " definition of HP:0100615 (Ovarian neoplasm)\n", + " \n", + " \n", + " #Neoplasm of the ovaries #Neoplasm of the ovary #Ovarian tumor #Ovarian tumour\n", + " definition of HP:0100615 (Ovarian neoplasm)\n", + " \n", + " \n", + " Premature fusion of the radial epiphyseal plates\n", + " definition of HP:0004012 (Premature fusion of the radial epiphyseal plates)\n", + " \n", + " \n", + " A premature fusion of the epiphyseal plates of the radius. Epiphyseal plates are located at the distal and proximal ends of the long bones, in this case of the radius and premature fusion will have an effect on the growh of the radial bone, inhibiting or at least disturbing the normal growth and development of the bone.\n", + " definition of HP:0004012 (Premature fusion of the radial epiphyseal plates)\n", + " \n", + " \n", + " Migratory arthritis\n", + " definition of HP:0033037 (Migratory arthritis)\n", + " \n", + " \n", + " #Migratory polyarthritis\n", + " definition of HP:0033037 (Migratory arthritis)\n", + " \n", + " \n", + " Excessive eye contact\n", + " definition of HP:0034437 (Excessive eye contact)\n", + " \n", + " \n", + " Tendency to maintain sustained eye contact for an inappropriately long period of time.\n", + " definition of HP:0034437 (Excessive eye contact)\n", + " \n", + " \n", + " Synostosis of carpals/tarsals\n", + " definition of HP:0100266 (Synostosis of carpals/tarsals)\n", + " \n", + " \n", + " The carpus consists of the scaphoid, lunate, triquetal, pisiform, captitate, hamate, trapezoid, and trapezium bones. The tarsus consists of the talus, calcaneus, cuboid, cuneiform, and navicular bones. This term applies if there is any fusion among the bones of the carpus or tarsus.\n", + " definition of HP:0100266 (Synostosis of carpals/tarsals)\n", + " \n", + " \n", + " #Carpal and tarsal fusions #Coalescence of carpal and tarsal bones #Fusion of carpal and tarsal bones #Wrist bone/ankle bone fusions\n", + " definition of HP:0100266 (Synostosis of carpals/tarsals)\n", + " \n", + " \n", + " Focal autonomic seizure\n", + " definition of HP:0011154 (Focal autonomic seizure)\n", + " \n", + " \n", + " An autonomic seizure is a type of focal non-motor seizure characterized by alteration of autonomic nervous system function as the initial semiological feature.\n", + " definition of HP:0011154 (Focal autonomic seizure)\n", + " \n", + " \n", + " #Focal autonomic seizures\n", + " definition of HP:0011154 (Focal autonomic seizure)\n", + " \n", + " \n", + " History of recent viral illness\n", + " definition of HP:4000145 (History of recent viral illness)\n", + " \n", + " \n", + " Medical history of a viral illness in recent weeks.\n", + " definition of HP:4000145 (History of recent viral illness)\n", + " \n", + " \n", + " #Antecedent viral illness\n", + " definition of HP:4000145 (History of recent viral illness)\n", + " \n", + " \n", + " Delayed elbow epiphyseal ossification\n", + " definition of HP:0003947 (Delayed elbow epiphyseal ossification)\n", + " \n", + " \n", + " A delay in the process of formation and maturation of the epiphysis of one or more long bones that are part of the elbow.\n", + " definition of HP:0003947 (Delayed elbow epiphyseal ossification)\n", + " \n", + " \n", + " #Delayed maturation of the end part of the elbow bone\n", + " definition of HP:0003947 (Delayed elbow epiphyseal ossification)\n", + " \n", + " \n", + " Placenta percreta\n", + " definition of HP:0025653 (Placenta percreta)\n", + " \n", + " \n", + " Placenta percreta is a rare form of morbidly adherent placenta with penetration through the myometrium reaching serosa and even adjacent pelvic organs.\n", + " definition of HP:0025653 (Placenta percreta)\n", + " \n", + " \n", + " #Abnormal placental pentration beyond the uterine wall\n", + " definition of HP:0025653 (Placenta percreta)\n", + " \n", + " \n", + " Hyperostosis cranialis interna\n", + " definition of HP:0005890 (Hyperostosis cranialis interna)\n", + " \n", + " \n", + " Bony overgrowth of the internal (endosteal) surface of the calvaria and the base of skull.\n", + " definition of HP:0005890 (Hyperostosis cranialis interna)\n", + " \n", + " \n", + " #Excessive growth of inner surface of the skull bones #Hyperostosis of the internal surface of the cranial bone #Hyperostosis of the internal surface of the cranial bones #Overgrowth of the inner surface of the skull bones\n", + " definition of HP:0005890 (Hyperostosis cranialis interna)\n", + " \n", + " \n", + " Unilateral multifocal epileptiform discharges\n", + " definition of HP:0011191 (Unilateral multifocal epileptiform discharges)\n", + " \n", + " \n", + " Epileptiform discharges being identified at multiple locations in one hemisphere.\n", + " definition of HP:0011191 (Unilateral multifocal epileptiform discharges)\n", + " \n", + " \n", + " Camptodactyly of toe\n", + " definition of HP:0001836 (Camptodactyly of toe)\n", + " \n", + " \n", + " Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes.\n", + " definition of HP:0001836 (Camptodactyly of toe)\n", + " \n", + " \n", + " #Camptodactyly of feet\n", + " definition of HP:0001836 (Camptodactyly of toe)\n", + " \n", + " \n", + " Notched ulna\n", + " definition of HP:0003989 (Notched ulna)\n", + " \n", + " \n", + " Focal impaired awareness autonomic seizure with erection\n", + " definition of HP:0032780 (Focal impaired awareness autonomic seizure with erection)\n", + " \n", + " \n", + " A focal autonomic seizure with erection characterized by impairment of awareness at some point during the seizure.\n", + " definition of HP:0032780 (Focal impaired awareness autonomic seizure with erection)\n", + " \n", + " \n", + " Pyropoikilocytosis\n", + " definition of HP:0004839 (Pyropoikilocytosis)\n", + " \n", + " \n", + " A form of severe hemolytic anemia characterized by erythrocyte morphology reminiscent of that seen in patients after a thermal burn.\n", + " definition of HP:0004839 (Pyropoikilocytosis)\n", + " \n", + " \n", + " #hereditary pyropoikilocytosis\n", + " definition of HP:0004839 (Pyropoikilocytosis)\n", + " \n", + " \n", + " Abnormal circulating IgG concentration\n", + " definition of HP:0410242 (Abnormal circulating IgG concentration)\n", + " \n", + " \n", + " An abnormal deviation from normal levels of IgG immunoglobulin in blood.\n", + " definition of HP:0410242 (Abnormal circulating IgG concentration)\n", + " \n", + " \n", + " #Abnormal circulating IgG level #Abnormal IgG level in blood\n", + " definition of HP:0410242 (Abnormal circulating IgG concentration)\n", + " \n", + " \n", + " Focal aware bilateral motor seizure\n", + " definition of HP:0032856 (Focal aware bilateral motor seizure)\n", + " \n", + " \n", + " A type of focal bilateral motor seizure during which awareness is fully retained throughout.\n", + " definition of HP:0032856 (Focal aware bilateral motor seizure)\n", + " \n", + " \n", + " Subepidermal blistering\n", + " definition of HP:0033804 (Subepidermal blistering)\n", + " \n", + " \n", + " A type of blistering in which the lesions are located beneath the epidermis.\n", + " definition of HP:0033804 (Subepidermal blistering)\n", + " \n", + " \n", + " Decreased urinary catecholamine concentration\n", + " definition of HP:0045012 (Decreased urinary catecholamine concentration)\n", + " \n", + " \n", + " Abnormal Bowman space morphology\n", + " definition of HP:0033312 (Abnormal Bowman space morphology)\n", + " \n", + " \n", + " Structural anomaly located in Bowman's space, which represents the beginning of the urinary space and is contiguous with the proximal convoluted tubule of the nephron.\n", + " definition of HP:0033312 (Abnormal Bowman space morphology)\n", + " \n", + " \n", + " Distal sensory impairment\n", + " definition of HP:0002936 (Distal sensory impairment)\n", + " \n", + " \n", + " An abnormal reduction in sensation in the distal portions of the extremities.\n", + " definition of HP:0002936 (Distal sensory impairment)\n", + " \n", + " \n", + " #Decreased distal sensation #Decreased sensation in extremities #Distal sensation loss #Distal sensory impairment in lower limbs #Distal sensory impairment of the lower extremities #Distal sensory loss #Distal sensory loss, upper and lower limbs #Loss of distal sensation\n", + " definition of HP:0002936 (Distal sensory impairment)\n", + " \n", + " \n", + " Scaphocephaly\n", + " definition of HP:0030799 (Scaphocephaly)\n", + " \n", + " \n", + " Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). Scaphocephaly is caused by a precocious fusion of sagittal suture without other associated synostosis.\n", + " definition of HP:0030799 (Scaphocephaly)\n", + " \n", + " \n", + " Pseudoepiphysis of the distal phalanx of the 2nd toe\n", + " definition of HP:0100107 (Pseudoepiphysis of the distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Generalized keratosis follicularis\n", + " definition of HP:0007439 (Generalized keratosis follicularis)\n", + " \n", + " \n", + " #Generalised keratosis follicularis\n", + " definition of HP:0007439 (Generalized keratosis follicularis)\n", + " \n", + " \n", + " Exacerbated by excessive sweating\n", + " definition of HP:6001077 (Exacerbated by excessive sweating)\n", + " \n", + " \n", + " Applied to a sign or symptom that is made worse by excessive sweating.\n", + " definition of HP:6001077 (Exacerbated by excessive sweating)\n", + " \n", + " \n", + " Aplasia cutis congenita on trunk or limbs\n", + " definition of HP:0007589 (Aplasia cutis congenita on trunk or limbs)\n", + " \n", + " \n", + " A developmental defect resulting in the congenital absence of skin on the trunk or the limbs.\n", + " definition of HP:0007589 (Aplasia cutis congenita on trunk or limbs)\n", + " \n", + " \n", + " Tapetal-like fundal reflex\n", + " definition of HP:0025583 (Tapetal-like fundal reflex)\n", + " \n", + " \n", + " Golden, scintillating, particulate reflection noted on fundus examination (typically in the macula and sparing the fovea). The term tapetal is used to describe this 'metallic' sheen appearance as it is thought to be similar to the 'tapetal' reflex seen in the eyes of certain animals.\n", + " definition of HP:0025583 (Tapetal-like fundal reflex)\n", + " \n", + " \n", + " Craniofacial hyperostosis\n", + " definition of HP:0004493 (Craniofacial hyperostosis)\n", + " \n", + " \n", + " Excessive growth of the craniofacial bones.\n", + " definition of HP:0004493 (Craniofacial hyperostosis)\n", + " \n", + " \n", + " #Excessive bone growth of the skull and face #Hyperostosis of craniofacial bones #Increased ossification of craniofacial bones\n", + " definition of HP:0004493 (Craniofacial hyperostosis)\n", + " \n", + " \n", + " Duplication of the middle phalanx of the 2nd toe\n", + " definition of HP:0010412 (Duplication of the middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " Partial or complete duplication of middle phalanx of second toe.\n", + " definition of HP:0010412 (Duplication of the middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Duplication of middle bone of 2nd toe #Partial/complete duplication of the middle phalanx of the 2nd toe\n", + " definition of HP:0010412 (Duplication of the middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " Occupational disability\n", + " definition of HP:0033695 (Occupational disability)\n", + " \n", + " \n", + " This is a general term that denotes a reduced ability to perform the work that one performed prior to an illness, and may be related to pain, cognitive dysfunction, fatigue or other physical disabilities.\n", + " definition of HP:0033695 (Occupational disability)\n", + " \n", + " \n", + " Slender middle phalanx of finger\n", + " definition of HP:0012295 (Slender middle phalanx of finger)\n", + " \n", + " \n", + " Reduced diameter of the middle phalanx of finger.\n", + " definition of HP:0012295 (Slender middle phalanx of finger)\n", + " \n", + " \n", + " #Slender middle bone of finger\n", + " definition of HP:0012295 (Slender middle phalanx of finger)\n", + " \n", + " \n", + " Pinealoma\n", + " definition of HP:0010799 (Pinealoma)\n", + " \n", + " \n", + " A neoplasm of the pineal gland.\n", + " definition of HP:0010799 (Pinealoma)\n", + " \n", + " \n", + " Potassium-sparing diuretic exposure\n", + " definition of HP:4000115 (Potassium-sparing diuretic exposure)\n", + " \n", + " \n", + " History of having taken a potassium-sparing diuretic exposure such as amiloride, eplerenone, spironolactone, and triamterene.\n", + " definition of HP:4000115 (Potassium-sparing diuretic exposure)\n", + " \n", + " \n", + " Dysmorphic hematuria\n", + " definition of HP:0032957 (Dysmorphic hematuria)\n", + " \n", + " \n", + " The presence of dysmorphic urinary erythrocytes. This feature can be observed by phase-contrastmicroscopy, differential interference microscopy, and bright-field microscopy. The acanthocyte or G1 cell, which is a doughnut-shaped cell with one or more blebs, is reported to constitute a special form of dysmorphic erythro-cyte (D cell) specific for glomerular hematuria.\n", + " definition of HP:0032957 (Dysmorphic hematuria)\n", + " \n", + " \n", + " #Acanthocyturia\n", + " definition of HP:0032957 (Dysmorphic hematuria)\n", + " \n", + " \n", + " Abnormal female external genitalia morphology\n", + " definition of HP:0000055 (Abnormal female external genitalia morphology)\n", + " \n", + " \n", + " Any structural abnormality of the female external genitalia.\n", + " definition of HP:0000055 (Abnormal female external genitalia morphology)\n", + " \n", + " \n", + " #Abnormal female external genitalia #Abnormality of female external genitalia\n", + " definition of HP:0000055 (Abnormal female external genitalia morphology)\n", + " \n", + " \n", + " Jerky ocular pursuit movements\n", + " definition of HP:0008003 (Jerky ocular pursuit movements)\n", + " \n", + " \n", + " #Jerky smooth pursuit\n", + " definition of HP:0008003 (Jerky ocular pursuit movements)\n", + " \n", + " \n", + " Abnormality of vitamin metabolism\n", + " definition of HP:0100508 (Abnormality of vitamin metabolism)\n", + " \n", + " \n", + " An anomaly in the metabolism of a vitamin.\n", + " definition of HP:0100508 (Abnormality of vitamin metabolism)\n", + " \n", + " \n", + " #Abnormality of vitamin metabolism\n", + " definition of HP:0100508 (Abnormality of vitamin metabolism)\n", + " \n", + " \n", + " Renal tubular atrophy\n", + " definition of HP:0000092 (Renal tubular atrophy)\n", + " \n", + " \n", + " The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules.\n", + " definition of HP:0000092 (Renal tubular atrophy)\n", + " \n", + " \n", + " #Renal tubular cell atrophy #Tubular atrophy\n", + " definition of HP:0000092 (Renal tubular atrophy)\n", + " \n", + " \n", + " Neoplasm of the nervous system\n", + " definition of HP:0004375 (Neoplasm of the nervous system)\n", + " \n", + " \n", + " A tumor (abnormal growth of tissue) of the nervous system.\n", + " definition of HP:0004375 (Neoplasm of the nervous system)\n", + " \n", + " \n", + " #Tumor of the nervous system #Tumour of the nervous system\n", + " definition of HP:0004375 (Neoplasm of the nervous system)\n", + " \n", + " \n", + " Neoplasm of the middle ear\n", + " definition of HP:0100799 (Neoplasm of the middle ear)\n", + " \n", + " \n", + " A tumor (abnormal growth of tissue) of the middle ear.\n", + " definition of HP:0100799 (Neoplasm of the middle ear)\n", + " \n", + " \n", + " #Middle ear tumor #Middle ear tumour #Neoplasia of the middle ear\n", + " definition of HP:0100799 (Neoplasm of the middle ear)\n", + " \n", + " \n", + " Atrial septal defect\n", + " definition of HP:0001631 (Atrial septal defect)\n", + " \n", + " \n", + " Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.\n", + " definition of HP:0001631 (Atrial septal defect)\n", + " \n", + " \n", + " #An opening in the wall separating the top two chambers of the heart #ASD #Atria septal defect #Atrial septum defect #Atrioseptal defect #Defect in the atrial septum #Hole in heart wall separating two upper heart chambers\n", + " definition of HP:0001631 (Atrial septal defect)\n", + " \n", + " \n", + " Status asthmaticus\n", + " definition of HP:0012653 (Status asthmaticus)\n", + " \n", + " \n", + " Severe asthma unresponsive to repeated courses of beta-agonist therapy such as inhaled albuterol, levalbuterol, or subcutaneous epinephrine.\n", + " definition of HP:0012653 (Status asthmaticus)\n", + " \n", + " \n", + " #Acute severe asthma\n", + " definition of HP:0012653 (Status asthmaticus)\n", + " \n", + " \n", + " Abnormality of vitamin D metabolism\n", + " definition of HP:0100511 (Abnormality of vitamin D metabolism)\n", + " \n", + " \n", + " #Abnormality of vitamin D metabolism\n", + " definition of HP:0100511 (Abnormality of vitamin D metabolism)\n", + " \n", + " \n", + " Hypogeusia\n", + " definition of HP:0000224 (Hypogeusia)\n", + " \n", + " \n", + " A decreased ability to perceive flavor.\n", + " definition of HP:0000224 (Hypogeusia)\n", + " \n", + " \n", + " #Decreased taste #Decreased taste sensation\n", + " definition of HP:0000224 (Hypogeusia)\n", + " \n", + " \n", + " Anti-factor VII antibody positivity\n", + " definition of HP:6000493 (Anti-factor VII antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against factor VII.\n", + " definition of HP:6000493 (Anti-factor VII antibody positivity)\n", + " \n", + " \n", + " #Anti-FVII antibody positivity\n", + " definition of HP:6000493 (Anti-factor VII antibody positivity)\n", + " \n", + " \n", + " High serum calcifediol\n", + " definition of HP:0031414 (High serum calcifediol)\n", + " \n", + " \n", + " An increased concentration of calcifediol in the blood. Calcifediol is also known as 25-hydroxycholecalciferol or 25-Hydroxyvitamin D3.\n", + " definition of HP:0031414 (High serum calcifediol)\n", + " \n", + " \n", + " #High serum 25-hydroxycholecalciferol #High serum calcidiol\n", + " definition of HP:0031414 (High serum calcifediol)\n", + " \n", + " \n", + " Delayed adrenarche\n", + " definition of HP:0025453 (Delayed adrenarche)\n", + " \n", + " \n", + " Occurrence of adrenarche at a later than normal age. Adrenarche normally occurs between six and eight years of age with increased adrenal androgen secretion; its exact biologic role is not well understood. It is accompanied by changes in pilosebaceous units, a transient growth spurt and the appearance of axillary and pubic hair in some children, but no sexual development.\n", + " definition of HP:0025453 (Delayed adrenarche)\n", + " \n", + " \n", + " Decreased CSF alanine concentration\n", + " definition of HP:0500234 (Decreased CSF alanine concentration)\n", + " \n", + " \n", + " Abnormally decreased levels of alanine in cerebrospinal fluid.\n", + " definition of HP:0500234 (Decreased CSF alanine concentration)\n", + " \n", + " \n", + " #Low alanine levels in cerebrospinal fluid\n", + " definition of HP:0500234 (Decreased CSF alanine concentration)\n", + " \n", + " \n", + " Irregular epiphysis of the distal phalanx of the 2nd toe\n", + " definition of HP:0100105 (Irregular epiphysis of the distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Irregular end part of the outermost bone of the 2nd toe\n", + " definition of HP:0100105 (Irregular epiphysis of the distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Ectopic respiratory mucosa\n", + " definition of HP:0100241 (Ectopic respiratory mucosa)\n", + " \n", + " \n", + " Ectopic respiratory epithelium presenting as a superficial lesion in the skin usually localized unilateral in the skin of the forearm and associated with ipsilateral hand malformations.\n", + " definition of HP:0100241 (Ectopic respiratory mucosa)\n", + " \n", + " \n", + " Upper eyelid edema\n", + " definition of HP:0012724 (Upper eyelid edema)\n", + " \n", + " \n", + " Edema in the region of the upper eyelid.\n", + " definition of HP:0012724 (Upper eyelid edema)\n", + " \n", + " \n", + " #Cellulitis of upper eyelid #Fullness of upper eyelid #Puffiness of upper eyelid #Swelling of upper eyelid #Upper eyelid oedema\n", + " definition of HP:0012724 (Upper eyelid edema)\n", + " \n", + " \n", + " Elevated CSF dihydrothymine concentration\n", + " definition of HP:6000212 (Elevated CSF dihydrothymine concentration)\n", + " \n", + " \n", + " The concentration of dihydrothymine in the cerebrospinal fluid is above the upper limit of normal.\n", + " definition of HP:6000212 (Elevated CSF dihydrothymine concentration)\n", + " \n", + " \n", + " #Dihydrothymine high in CSF\n", + " definition of HP:6000212 (Elevated CSF dihydrothymine concentration)\n", + " \n", + " \n", + " Increased urine sebacic acid concentration\n", + " definition of HP:0500252 (Increased urine sebacic acid concentration)\n", + " \n", + " \n", + " Elevated concentration of sebacic acid in the urine.\n", + " definition of HP:0500252 (Increased urine sebacic acid concentration)\n", + " \n", + " \n", + " #Increased urine decanedioic acid concentration\n", + " definition of HP:0500252 (Increased urine sebacic acid concentration)\n", + " \n", + " \n", + " Cone-shaped epiphysis of the middle phalanx of the 3rd finger\n", + " definition of HP:0009323 (Cone-shaped epiphysis of the middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " A cone-shaped appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.\n", + " definition of HP:0009323 (Cone-shaped epiphysis of the middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Cone-shaped end part of the middle bone of the middle finger\n", + " definition of HP:0009323 (Cone-shaped epiphysis of the middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " Medial/intimal arcuate venosclerosis\n", + " definition of HP:0033916 (Medial/intimal arcuate venosclerosis)\n", + " \n", + " \n", + " Thickening of the intima with fibrosis and/or duplication of the elastic lamina in arcuate veins.\n", + " definition of HP:0033916 (Medial/intimal arcuate venosclerosis)\n", + " \n", + " \n", + " Spondylitis\n", + " definition of HP:0033631 (Spondylitis)\n", + " \n", + " \n", + " Inflammation of the vertebrae (vertebral bodies) or spine.\n", + " definition of HP:0033631 (Spondylitis)\n", + " \n", + " \n", + " Bone marrow vacuolated lymphocytes\n", + " definition of HP:0034483 (Bone marrow vacuolated lymphocytes)\n", + " \n", + " \n", + " The presence of lymphocytes with multilple vacuoles (a membrane-bound cell organelle) in the bone marrow.\n", + " definition of HP:0034483 (Bone marrow vacuolated lymphocytes)\n", + " \n", + " \n", + " #Bone marrow: vacuolated lymphocytes\n", + " definition of HP:0034483 (Bone marrow vacuolated lymphocytes)\n", + " \n", + " \n", + " Podocyte foot process effacement\n", + " definition of HP:0031266 (Podocyte foot process effacement)\n", + " \n", + " \n", + " An anomaly of podocyte morphology characterized by the loss of the interdigitating foot process pattern (generally called foot process effacement; FPE). The term FPE designates the loss of the usual interdigitating pattern of foot processes of neighboring podocytes, leading to relatively broad expanses of podocyte processes covering the glomerular basement membrane (GBM). It is widely viewed as a pathological derangement that is associated with leakage of macromolecules such as albumin through the glomerular filtration barrier.\n", + " definition of HP:0031266 (Podocyte foot process effacement)\n", + " \n", + " \n", + " #Loss of primary podocyte processes\n", + " definition of HP:0031266 (Podocyte foot process effacement)\n", + " \n", + " \n", + " Recurrent E. coli infections\n", + " definition of HP:0002740 (Recurrent E. coli infections)\n", + " \n", + " \n", + " Increased susceptibility to infections with Escherichia coli, as manifested by recurrent episodes of infection with this agent.\n", + " definition of HP:0002740 (Recurrent E. coli infections)\n", + " \n", + " \n", + " #E coli infections #E coli infections, recurrent\n", + " definition of HP:0002740 (Recurrent E. coli infections)\n", + " \n", + " \n", + " Poor fine motor coordination\n", + " definition of HP:0007010 (Poor fine motor coordination)\n", + " \n", + " \n", + " An abnormality of the ability (skills) to perform a precise movement of small muscles with the intent to perform a specific act. Fine motor skills are required to mediate movements of the wrists, hands, fingers, feet, and toes.\n", + " definition of HP:0007010 (Poor fine motor coordination)\n", + " \n", + " \n", + " #Fine motor disability #Fine motor impairment #Fine motor skill dysfunction #Impaired fine motor skills\n", + " definition of HP:0007010 (Poor fine motor coordination)\n", + " \n", + " \n", + " Precocious puberty\n", + " definition of HP:0000826 (Precocious puberty)\n", + " \n", + " \n", + " The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys.\n", + " definition of HP:0000826 (Precocious puberty)\n", + " \n", + " \n", + " #Early onset of puberty #Early puberty\n", + " definition of HP:0000826 (Precocious puberty)\n", + " \n", + " \n", + " EEG with occipital sharp waves\n", + " definition of HP:0011292 (EEG with occipital sharp waves)\n", + " \n", + " \n", + " EEG with sharp waves in the occipital region, i.e., sharp transient waves of a duration between 80 and 200 msec.\n", + " definition of HP:0011292 (EEG with occipital sharp waves)\n", + " \n", + " \n", + " Abnormal circulating histidine concentration\n", + " definition of HP:0010904 (Abnormal circulating histidine concentration)\n", + " \n", + " \n", + " An abnormality of a histidine metabolic process.\n", + " definition of HP:0010904 (Abnormal circulating histidine concentration)\n", + " \n", + " \n", + " #Abnormality of histidine metabolism\n", + " definition of HP:0010904 (Abnormal circulating histidine concentration)\n", + " \n", + " \n", + " Elevated circulating guanidinoacetic acid concentration\n", + " definition of HP:0034321 (Elevated circulating guanidinoacetic acid concentration)\n", + " \n", + " \n", + " Concentration of guanidinoacetic acid in the blood circulation is above the upper limit of normal.\n", + " definition of HP:0034321 (Elevated circulating guanidinoacetic acid concentration)\n", + " \n", + " \n", + " #Increased circulating guanidinoacetic acid concentration\n", + " definition of HP:0034321 (Elevated circulating guanidinoacetic acid concentration)\n", + " \n", + " \n", + " High myoinositol in brain by MRS\n", + " definition of HP:0025460 (High myoinositol in brain by MRS)\n", + " \n", + " \n", + " An elevated level of myoinositol in the brain identified by magnetic resonance spectroscopy (MRS).\n", + " definition of HP:0025460 (High myoinositol in brain by MRS)\n", + " \n", + " \n", + " #High myo-inositol in brain by MRS\n", + " definition of HP:0025460 (High myoinositol in brain by MRS)\n", + " \n", + " \n", + " Anti-angiotensin receptor type-1 antibody positivity\n", + " definition of HP:0034094 (Anti-angiotensin receptor type-1 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against angiotensin receptor type-1.\n", + " definition of HP:0034094 (Anti-angiotensin receptor type-1 antibody positivity)\n", + " \n", + " \n", + " #Anti-AT1R antibody positivity\n", + " definition of HP:0034094 (Anti-angiotensin receptor type-1 antibody positivity)\n", + " \n", + " \n", + " Inflammation of the large intestine\n", + " definition of HP:0002037 (Inflammation of the large intestine)\n", + " \n", + " \n", + " Inflammation, or an inflammatory state in the large intestine.\n", + " definition of HP:0002037 (Inflammation of the large intestine)\n", + " \n", + " \n", + " #Inflammation of the large intestine\n", + " definition of HP:0002037 (Inflammation of the large intestine)\n", + " \n", + " \n", + " Skin fissure\n", + " definition of HP:0031057 (Skin fissure)\n", + " \n", + " \n", + " A clearly-defined and roughly linear cleavage in the skin that usually extends to the dermis.\n", + " definition of HP:0031057 (Skin fissure)\n", + " \n", + " \n", + " #Cracked skin\n", + " definition of HP:0031057 (Skin fissure)\n", + " \n", + " \n", + " Astrocytoma\n", + " definition of HP:0009592 (Astrocytoma)\n", + " \n", + " \n", + " Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma.\n", + " definition of HP:0009592 (Astrocytoma)\n", + " \n", + " \n", + " Temporal bossing\n", + " definition of HP:0032569 (Temporal bossing)\n", + " \n", + " \n", + " Prominence (bulging) in the temple region, which is the part of the skull where the frontal, parietal, temporal, and sphenoid bones join on the side of the head.\n", + " definition of HP:0032569 (Temporal bossing)\n", + " \n", + " \n", + " Long-tract signs\n", + " definition of HP:0002423 (Long-tract signs)\n", + " \n", + " \n", + " Long-tract signs refer to symptoms that are attributable to the involvement of the long fiber tracts in the spinal cord, which connect the spinal cord to the brain and mediate spinal and motor functions.\n", + " definition of HP:0002423 (Long-tract signs)\n", + " \n", + " \n", + " #Long tract signs\n", + " definition of HP:0002423 (Long-tract signs)\n", + " \n", + " \n", + " Abnormal number of permanent teeth\n", + " definition of HP:0011044 (Abnormal number of permanent teeth)\n", + " \n", + " \n", + " The presence of an altered number of of permanent teeth.\n", + " definition of HP:0011044 (Abnormal number of permanent teeth)\n", + " \n", + " \n", + " #Abnormal complement of permanent teeth #Abnormal number of adult teeth #Abnormal number of permanent teeth #Abnormal number of secondary dentition #Abnormal permanent tooth count\n", + " definition of HP:0011044 (Abnormal number of permanent teeth)\n", + " \n", + " \n", + " Maternal obesity during pregnancy\n", + " definition of HP:0034855 (Maternal obesity during pregnancy)\n", + " \n", + " \n", + " A history of obesity, which can be defined as a body mass index of 30 or greater, in the mother of a fetus or index patient.\n", + " definition of HP:0034855 (Maternal obesity during pregnancy)\n", + " \n", + " \n", + " Internal ophthalmoplegia\n", + " definition of HP:0007942 (Internal ophthalmoplegia)\n", + " \n", + " \n", + " Paralysis of the iris and ciliary apparatus.\n", + " definition of HP:0007942 (Internal ophthalmoplegia)\n", + " \n", + " \n", + " Alkalemia\n", + " definition of HP:0032369 (Alkalemia)\n", + " \n", + " \n", + " An abnormally high blood pH (usually defined as 7.41 or above).\n", + " definition of HP:0032369 (Alkalemia)\n", + " \n", + " \n", + " Narrow foot\n", + " definition of HP:0001786 (Narrow foot)\n", + " \n", + " \n", + " A foot for which the measured width is below the 5th centile for age; or, a foot that appears disproportionately narrow for its length.\n", + " definition of HP:0001786 (Narrow foot)\n", + " \n", + " \n", + " #Narrow foot #Slender feet\n", + " definition of HP:0001786 (Narrow foot)\n", + " \n", + " \n", + " Mucinous colorectal carcinoma\n", + " definition of HP:0031497 (Mucinous colorectal carcinoma)\n", + " \n", + " \n", + " A subtype of colorectal carcinoma with mucin lakes.\n", + " definition of HP:0031497 (Mucinous colorectal carcinoma)\n", + " \n", + " \n", + " Reduced CSF dopamine concentration\n", + " definition of HP:0012656 (Reduced CSF dopamine concentration)\n", + " \n", + " \n", + " Decreased concentration of dopamine in the cerebrospinal fluid (CSF).\n", + " definition of HP:0012656 (Reduced CSF dopamine concentration)\n", + " \n", + " \n", + " Small foramen magnum\n", + " definition of HP:0002677 (Small foramen magnum)\n", + " \n", + " \n", + " An abnormal narrowing of the foramen magnum.\n", + " definition of HP:0002677 (Small foramen magnum)\n", + " \n", + " \n", + " #Foramen magnum stenosis #Little foramen magnum #Narrow foramen magnum\n", + " definition of HP:0002677 (Small foramen magnum)\n", + " \n", + " \n", + " Dysplastic gangliocytoma of the cerebellum\n", + " definition of HP:0500009 (Dysplastic gangliocytoma of the cerebellum)\n", + " \n", + " \n", + " It is a rare, slowly growing tumor of the cerebellum, a gangliocytoma sometimes considered to be a hamartoma, characterized by diffuse hypertrophy of the granular layer of the cerebellum.\n", + " definition of HP:0500009 (Dysplastic gangliocytoma of the cerebellum)\n", + " \n", + " \n", + " Aplasia/hypoplasia of the extremities\n", + " definition of HP:0009815 (Aplasia/hypoplasia of the extremities)\n", + " \n", + " \n", + " Absence (due to failure to form) or underdevelopment of the extremities.\n", + " definition of HP:0009815 (Aplasia/hypoplasia of the extremities)\n", + " \n", + " \n", + " #Absent/small extremities #Absent/underdeveloped extremities #Short or absent limbs #Shortened limbs\n", + " definition of HP:0009815 (Aplasia/hypoplasia of the extremities)\n", + " \n", + " \n", + " Abnormal pinna morphology\n", + " definition of HP:0000377 (Abnormal pinna morphology)\n", + " \n", + " \n", + " An abnormality of the pinna, which is also referred to as the auricle or external ear.\n", + " definition of HP:0000377 (Abnormal pinna morphology)\n", + " \n", + " \n", + " #Abnormal form of ears #Abnormally shaped ears #Auricular malformation #Deformed auricles #Deformed ears #Dysplastic ears #Malformation of auricle #Malformed auricles #Malformed ears #Malformed external ears #Minor malformation of the auricles #Poorly defined conchae\n", + " definition of HP:0000377 (Abnormal pinna morphology)\n", + " \n", + " \n", + " Cupped ear\n", + " definition of HP:0000378 (Cupped ear)\n", + " \n", + " \n", + " Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura).\n", + " definition of HP:0000378 (Cupped ear)\n", + " \n", + " \n", + " #Cup-shaped ears #Cupped ear #Simple, cup-shaped ears\n", + " definition of HP:0000378 (Cupped ear)\n", + " \n", + " \n", + " Narrow pelvis bone\n", + " definition of HP:0003275 (Narrow pelvis bone)\n", + " \n", + " \n", + " Reduced side to side width of the pelvis.\n", + " definition of HP:0003275 (Narrow pelvis bone)\n", + " \n", + " \n", + " #Narrow pelvis bone\n", + " definition of HP:0003275 (Narrow pelvis bone)\n", + " \n", + " \n", + " Erythema marginatum\n", + " definition of HP:6001012 (Erythema marginatum)\n", + " \n", + " \n", + " An erythematous (pink-red, depending on the skin color of the affected individual) macule that spreads peripherally and coalesces to form polycyclic or serpentine patches or plaques. Lesions occur in crops over days to weeks and are evanescent. The rate of migration is 2 to 12 mm over a period of a few hours. Erythema marginatum tends to affect the trunk more than the extremities and to not be accompanied by pruritus.\n", + " definition of HP:6001012 (Erythema marginatum)\n", + " \n", + " \n", + " Chess-pawn distal phalanges\n", + " definition of HP:0006170 (Chess-pawn distal phalanges)\n", + " \n", + " \n", + " A morphological abnormality of distal phalanges such that they have the appearance of chess pawns.\n", + " definition of HP:0006170 (Chess-pawn distal phalanges)\n", + " \n", + " \n", + " #Chess-pawn shaped outermost bone\n", + " definition of HP:0006170 (Chess-pawn distal phalanges)\n", + " \n", + " \n", + " Abnormal MHC II surface expression\n", + " definition of HP:0031389 (Abnormal MHC II surface expression)\n", + " \n", + " \n", + " A deviation from the normal level of major histocompatibility complex class II molecules expressed at the cell surface.\n", + " definition of HP:0031389 (Abnormal MHC II surface expression)\n", + " \n", + " \n", + " Curved proximal phalanx of the 2nd toe\n", + " definition of HP:0010398 (Curved proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " A deviation from the normal straight form of the proximal phalanx of the 2nd toe.\n", + " definition of HP:0010398 (Curved proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Curved innermost bone of 2nd toe\n", + " definition of HP:0010398 (Curved proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Abnormal metacarpal epiphysis morphology\n", + " definition of HP:0005913 (Abnormal metacarpal epiphysis morphology)\n", + " \n", + " \n", + " #Abnormality of end part of long bone of hand #Abnormality of metacarpal epiphyses\n", + " definition of HP:0005913 (Abnormal metacarpal epiphysis morphology)\n", + " \n", + " \n", + " Autonomic bladder dysfunction\n", + " definition of HP:0005341 (Autonomic bladder dysfunction)\n", + " \n", + " \n", + " Abnormal bladder function (increased urge or frequency of urination or urge incontinence) resulting from abnormal functioning of the autonomic nervous system.\n", + " definition of HP:0005341 (Autonomic bladder dysfunction)\n", + " \n", + " \n", + " Decreased circulating IgA concentration\n", + " definition of HP:0002720 (Decreased circulating IgA concentration)\n", + " \n", + " \n", + " Decreased levels of immunoglobulin A (IgA).\n", + " definition of HP:0002720 (Decreased circulating IgA concentration)\n", + " \n", + " \n", + " #Decreased circulating IgA level #Decreased IgA #Decreased immunoglobulin A #Gamma-A globulin deficiency #IgA deficiency #Low levels of immunoglobulin A #Reduced IgA levels\n", + " definition of HP:0002720 (Decreased circulating IgA concentration)\n", + " \n", + " \n", + " Ameliorated by NSAID\n", + " definition of HP:0034755 (Ameliorated by NSAID)\n", + " \n", + " \n", + " Applies to a sign or symptom that is improved or made more bearable by treatment with a nonsteroidal anti-inflammatory drug (NSAID).\n", + " definition of HP:0034755 (Ameliorated by NSAID)\n", + " \n", + " \n", + " #Ameliorated by nonsteroidal anti-inflammatory drug\n", + " definition of HP:0034755 (Ameliorated by NSAID)\n", + " \n", + " \n", + " Atrioventricular reentrant tachycardia\n", + " definition of HP:0011717 (Atrioventricular reentrant tachycardia)\n", + " \n", + " \n", + " Accessory pathway-related atrioventricular reentrant tachycardia (AVRT) involves an abnormal electrical conduction of the accessory pathway. The accessory pathway connecting impulses between the atrium and the ventricle can be seen at any site in the AV groove.\n", + " definition of HP:0011717 (Atrioventricular reentrant tachycardia)\n", + " \n", + " \n", + " #AV nodal reentry tachycardia\n", + " definition of HP:0011717 (Atrioventricular reentrant tachycardia)\n", + " \n", + " \n", + " Abnormal electroretinogram\n", + " definition of HP:0000512 (Abnormal electroretinogram)\n", + " \n", + " \n", + " Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.\n", + " definition of HP:0000512 (Abnormal electroretinogram)\n", + " \n", + " \n", + " #Abnormal electroretinography #Abnormal ERG #ERG abnormal\n", + " definition of HP:0000512 (Abnormal electroretinogram)\n", + " \n", + " \n", + " Pancreatic squamous cell carcinoma\n", + " definition of HP:0012142 (Pancreatic squamous cell carcinoma)\n", + " \n", + " \n", + " A subtype of ductal pancreatic carcinoma that is thought to originate from squamous metaplasia of pancreatic ductal epithelium.\n", + " definition of HP:0012142 (Pancreatic squamous cell carcinoma)\n", + " \n", + " \n", + " #Squamous cell carcinoma of the pancreas\n", + " definition of HP:0012142 (Pancreatic squamous cell carcinoma)\n", + " \n", + " \n", + " Melasma\n", + " definition of HP:0025272 (Melasma)\n", + " \n", + " \n", + " Symmetrical, blotchy, brownish facial pigmentation.\n", + " definition of HP:0025272 (Melasma)\n", + " \n", + " \n", + " #Chloasma #Facial melanosis\n", + " definition of HP:0025272 (Melasma)\n", + " \n", + " \n", + " Chronic hepatitis due to cryptosporidium infection\n", + " definition of HP:0200124 (Chronic hepatitis due to cryptosporidium infection)\n", + " \n", + " \n", + " Chronic hepatitis associated with infection by cryptosporidia, as demonstrated (for example) by immunohistochemistry of liver tissue.\n", + " definition of HP:0200124 (Chronic hepatitis due to cryptosporidium infection)\n", + " \n", + " \n", + " Unilateral breast hypoplasia\n", + " definition of HP:0012813 (Unilateral breast hypoplasia)\n", + " \n", + " \n", + " Underdevelopment of the breast on one side only.\n", + " definition of HP:0012813 (Unilateral breast hypoplasia)\n", + " \n", + " \n", + " #One underdeveloped breast\n", + " definition of HP:0012813 (Unilateral breast hypoplasia)\n", + " \n", + " \n", + " Abnormal circulating IgD concentration\n", + " definition of HP:0410244 (Abnormal circulating IgD concentration)\n", + " \n", + " \n", + " An abnormal deviation from normal levels of IgD immunoglobulin in blood.\n", + " definition of HP:0410244 (Abnormal circulating IgD concentration)\n", + " \n", + " \n", + " #Abnormal circulating IgD level #Abnormal IgD level in blood\n", + " definition of HP:0410244 (Abnormal circulating IgD concentration)\n", + " \n", + " \n", + " Reduced upper to lower segment ratio\n", + " definition of HP:0012773 (Reduced upper to lower segment ratio)\n", + " \n", + " \n", + " Decreased ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis. Consider the term Disproportionate tall stature (HP:0001519) if tall stature is also present.\n", + " definition of HP:0012773 (Reduced upper to lower segment ratio)\n", + " \n", + " \n", + " Livedo\n", + " definition of HP:0033832 (Livedo)\n", + " \n", + " \n", + " A reddish-blue mottled condition of skin caused by inflammation of the cutaneous blood vessels.\n", + " definition of HP:0033832 (Livedo)\n", + " \n", + " \n", + " Hypoplasia of the anterior nasal spine\n", + " definition of HP:0010666 (Hypoplasia of the anterior nasal spine)\n", + " \n", + " \n", + " Underdevelopment of the anterior nasal spine of maxilla.\n", + " definition of HP:0010666 (Hypoplasia of the anterior nasal spine)\n", + " \n", + " \n", + " #Decreased projection of anterior nasal spine #Decreased size of anterior nasal spine #Small anterior nasal spine #Underdevelopment of anterior nasal spine\n", + " definition of HP:0010666 (Hypoplasia of the anterior nasal spine)\n", + " \n", + " \n", + " Absent axon flare response after intradermal histamine injection\n", + " definition of HP:6000322 (Absent axon flare response after intradermal histamine injection)\n", + " \n", + " \n", + " The axon reflex (also known as the flare response) is a response that is stimulated by peripheral nerves of the body that travels away from the nerve cell body and branches to stimulate target organs. In the human skin, there are three different phenomena mediated by axon reflex mechanism; flare, sweating and pilomotion. Stroking or intradermal injection of histamine or substance P into the human skin pro- duces widespread vasodilatation (flare) and plasma extravasation (wheal). This term refers to the failure of intradermal hista injection to elicit flare.\n", + " definition of HP:6000322 (Absent axon flare response after intradermal histamine injection)\n", + " \n", + " \n", + " Dilatation of renal calices\n", + " definition of HP:0100581 (Dilatation of renal calices)\n", + " \n", + " \n", + " An abnormal enlargement of the renal calices, the system of ducts of the kidney that collect urine.\n", + " definition of HP:0100581 (Dilatation of renal calices)\n", + " \n", + " \n", + " #Caliceal dilatation #Caliectasis\n", + " definition of HP:0100581 (Dilatation of renal calices)\n", + " \n", + " \n", + " Abnormal phalangeal joint morphology of the hand\n", + " definition of HP:0006261 (Abnormal phalangeal joint morphology of the hand)\n", + " \n", + " \n", + " #Abnormality of phalangeal joints of the hand #Abnormality of the small joints of the hand\n", + " definition of HP:0006261 (Abnormal phalangeal joint morphology of the hand)\n", + " \n", + " \n", + " Frontal cortical localization\n", + " definition of HP:0430128 (Frontal cortical localization)\n", + " \n", + " \n", + " Localization to or predominance in the frontal cortex of the brain.\n", + " definition of HP:0430128 (Frontal cortical localization)\n", + " \n", + " \n", + " EMG: myopathic abnormalities\n", + " definition of HP:0003458 (EMG: myopathic abnormalities)\n", + " \n", + " \n", + " The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials.\n", + " definition of HP:0003458 (EMG: myopathic abnormalities)\n", + " \n", + " \n", + " #EMG: myopathic changes #EMG: myopathy #Myopathic electromyogram\n", + " definition of HP:0003458 (EMG: myopathic abnormalities)\n", + " \n", + " \n", + " Fatigable weakness of skeletal muscles\n", + " definition of HP:0030197 (Fatigable weakness of skeletal muscles)\n", + " \n", + " \n", + " A type of weakness of skeletal muscle that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.\n", + " definition of HP:0030197 (Fatigable weakness of skeletal muscles)\n", + " \n", + " \n", + " Decreased RV/TLC ratio\n", + " definition of HP:0033773 (Decreased RV/TLC ratio)\n", + " \n", + " \n", + " An abnormally low ratio of residual volume (RV) to total lung capacity (TLC) on pulmonary function testing. RV is the amount of air remaining after maximal expiration and TLC is the total amount of air in the lungs at full inspiration. These volumes cannot be determined by spirometry, but can be measured by inert gas dilution, nitrogen washout, and body plethysmography.\n", + " definition of HP:0033773 (Decreased RV/TLC ratio)\n", + " \n", + " \n", + " Abnormal dermoepidermal hemidesmosome morphology\n", + " definition of HP:0032449 (Abnormal dermoepidermal hemidesmosome morphology)\n", + " \n", + " \n", + " An abnormal structure or appearance of hemidesmosomes, multiprotein complexes that facilitate the stable adhesion of basal epithelial cells to the underlying basement membrane.\n", + " definition of HP:0032449 (Abnormal dermoepidermal hemidesmosome morphology)\n", + " \n", + " \n", + " Neonatal unconjugated hyperbilirubinemia\n", + " definition of HP:0008176 (Neonatal unconjugated hyperbilirubinemia)\n", + " \n", + " \n", + " Increased urinary bile acid level\n", + " definition of HP:6000523 (Increased urinary bile acid level)\n", + " \n", + " \n", + " The amount of bile acids in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000523 (Increased urinary bile acid level)\n", + " \n", + " \n", + " Rosenthal fibers\n", + " definition of HP:0100320 (Rosenthal fibers)\n", + " \n", + " \n", + " Thick, elongated, worm-like or corkscrew eosinophilic bundle that are found on H&E staining of the brain in the presence of long standing gliosis, occasional tumors, and some metabolic disorders.\n", + " definition of HP:0100320 (Rosenthal fibers)\n", + " \n", + " \n", + " #Rosenthal fibres\n", + " definition of HP:0100320 (Rosenthal fibers)\n", + " \n", + " \n", + " Opportunistic viral infection\n", + " definition of HP:0033432 (Opportunistic viral infection)\n", + " \n", + " \n", + " Renal tubular epithelial cell simplification\n", + " definition of HP:0032603 (Renal tubular epithelial cell simplification)\n", + " \n", + " \n", + " Tubular cross section with flattened tubular cell cytoplasm (height unequivocally less than width), with complete loss of brush border involving greater than 50 percent of the tubular cells in cross section, resulting in an apparent increase in the size of the lumen, without the presence of casts.\n", + " definition of HP:0032603 (Renal tubular epithelial cell simplification)\n", + " \n", + " \n", + " Fibrotic muscularis propria\n", + " definition of HP:0030937 (Fibrotic muscularis propria)\n", + " \n", + " \n", + " The presence of excessive fibrous connective tissue in the muscularis propria of the intestine. Fibrosis is a reparative or reactive process.\n", + " definition of HP:0030937 (Fibrotic muscularis propria)\n", + " \n", + " \n", + " Abnormal cranial nerve physiology\n", + " definition of HP:0031910 (Abnormal cranial nerve physiology)\n", + " \n", + " \n", + " A functional abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem.\n", + " definition of HP:0031910 (Abnormal cranial nerve physiology)\n", + " \n", + " \n", + " Shortening of the talar neck\n", + " definition of HP:0008117 (Shortening of the talar neck)\n", + " \n", + " \n", + " Narrow nasal base\n", + " definition of HP:0012809 (Narrow nasal base)\n", + " \n", + " \n", + " Decreased distance between the attachments of the alae nasi to the face.\n", + " definition of HP:0012809 (Narrow nasal base)\n", + " \n", + " \n", + " #Decreased width of base of nose #Decreased width of nasal base #Narrow base of nose #Narrow nasal base #Thin base of nose #Thin nasal base\n", + " definition of HP:0012809 (Narrow nasal base)\n", + " \n", + " \n", + " Peripheral neuroepithelioma\n", + " definition of HP:0006717 (Peripheral neuroepithelioma)\n", + " \n", + " \n", + " Asplenia\n", + " definition of HP:0001746 (Asplenia)\n", + " \n", + " \n", + " Absence (aplasia) of the spleen.\n", + " definition of HP:0001746 (Asplenia)\n", + " \n", + " \n", + " #Absent spleen\n", + " definition of HP:0001746 (Asplenia)\n", + " \n", + " \n", + " Reduced F-wave amplitude\n", + " definition of HP:6000150 (Reduced F-wave amplitude)\n", + " \n", + " \n", + " Reduced strength (amplitude) of the F-wave, which is an electrophysiological artifact produced by antidromic activation of motoneurons following distal electrical stimulation of motor nerve fibers.\n", + " definition of HP:6000150 (Reduced F-wave amplitude)\n", + " \n", + " \n", + " Chronic tinea infection\n", + " definition of HP:0032259 (Chronic tinea infection)\n", + " \n", + " \n", + " The term tinea means fungal infection, whereas dermatophyte refers to the fungal organisms that cause tinea. This term refers to a tinea infection that is chronic or recalcitrant to treatment and may be reflective of an immune defect.\n", + " definition of HP:0032259 (Chronic tinea infection)\n", + " \n", + " \n", + " Abnormal pulmonary thoracic imaging finding\n", + " definition of HP:0031983 (Abnormal pulmonary thoracic imaging finding)\n", + " \n", + " \n", + " This term groups terms representing abnormal findings derived from chest X-ray investigation of the lung. In general, lung abnormalities can manifest as opacities (areas of increased density) or as regions with decreased density.\n", + " definition of HP:0031983 (Abnormal pulmonary thoracic imaging finding)\n", + " \n", + " \n", + " #Abnormal chest radiograph finding (lung)\n", + " definition of HP:0031983 (Abnormal pulmonary thoracic imaging finding)\n", + " \n", + " \n", + " Metabolic alkalosis\n", + " definition of HP:0200114 (Metabolic alkalosis)\n", + " \n", + " \n", + " Metabolic alkalosis is defined as a disease state where the pH is elevated to greater than 7.45 secondary to some metabolic process.\n", + " definition of HP:0200114 (Metabolic alkalosis)\n", + " \n", + " \n", + " Small nail\n", + " definition of HP:0001792 (Small nail)\n", + " \n", + " \n", + " A nail that is diminished in length and width, i.e., underdeveloped nail.\n", + " definition of HP:0001792 (Small nail)\n", + " \n", + " \n", + " #Hypoplastic nail #Hypoplastic nails #Nail hypoplasia #Small nail #Small nails\n", + " definition of HP:0001792 (Small nail)\n", + " \n", + " \n", + " Abnormal acetabulum morphology\n", + " definition of HP:0003170 (Abnormal acetabulum morphology)\n", + " \n", + " \n", + " An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint.\n", + " definition of HP:0003170 (Abnormal acetabulum morphology)\n", + " \n", + " \n", + " #Abnormality of the acetabulum #Abnormality of the hipbone socket #Acetabular abnormality\n", + " definition of HP:0003170 (Abnormal acetabulum morphology)\n", + " \n", + " \n", + " Elevated circulating hexacosanoic acid concentration\n", + " definition of HP:0034298 (Elevated circulating hexacosanoic acid concentration)\n", + " \n", + " \n", + " Elevated concentration of hexacosanoic acid (a C26 straight-chain saturated fatty acid) in the blood circulation.\n", + " definition of HP:0034298 (Elevated circulating hexacosanoic acid concentration)\n", + " \n", + " \n", + " #Elevated circulating cerotic acid concentration\n", + " definition of HP:0034298 (Elevated circulating hexacosanoic acid concentration)\n", + " \n", + " \n", + " Fractured hindlimb bone\n", + " definition of HP:0041235 (Fractured hindlimb bone)\n", + " \n", + " \n", + " A partial or complete breakage of the hindlimb bone.\n", + " definition of HP:0041235 (Fractured hindlimb bone)\n", + " \n", + " \n", + " #bone hindlimb bone\n", + " definition of HP:0041235 (Fractured hindlimb bone)\n", + " \n", + " \n", + " Impaired growth-hormone response to glucagon stimulation test\n", + " definition of HP:0031082 (Impaired growth-hormone response to glucagon stimulation test)\n", + " \n", + " \n", + " Failure of growth hormone levels to respond adequately (by increasing) to the glucagon stimulation test.\n", + " definition of HP:0031082 (Impaired growth-hormone response to glucagon stimulation test)\n", + " \n", + " \n", + " Abnormal hypothalamus morphology\n", + " definition of HP:0012286 (Abnormal hypothalamus morphology)\n", + " \n", + " \n", + " Any structural anomaly of the hypothalamus.\n", + " definition of HP:0012286 (Abnormal hypothalamus morphology)\n", + " \n", + " \n", + " #Abnormal shape of hypothalamus #Abnormality of hypothalamus morphology #Abnormality of the hypothalamus\n", + " definition of HP:0012286 (Abnormal hypothalamus morphology)\n", + " \n", + " \n", + " Spontaneous lens capsule rupture\n", + " definition of HP:6000097 (Spontaneous lens capsule rupture)\n", + " \n", + " \n", + " Breakage of the capsule of the lens. This is most often observed as a complication of lens surgery, but this term refers to lens capsule rupture not related to surgery or major trauma.\n", + " definition of HP:6000097 (Spontaneous lens capsule rupture)\n", + " \n", + " \n", + " Abnormal enzyme activity in muscle tissue\n", + " definition of HP:0034526 (Abnormal enzyme activity in muscle tissue)\n", + " \n", + " \n", + " Deviation from the normal activity of an enzyme in muscle tissue.\n", + " definition of HP:0034526 (Abnormal enzyme activity in muscle tissue)\n", + " \n", + " \n", + " Contractures of the metatarsophalangeal joint of the hallux\n", + " definition of HP:0010215 (Contractures of the metatarsophalangeal joint of the hallux)\n", + " \n", + " \n", + " The joint between the first metatarsal and the proximal phalanx of the first (big) toe cannot be straightened actively or passively.\n", + " definition of HP:0010215 (Contractures of the metatarsophalangeal joint of the hallux)\n", + " \n", + " \n", + " Unilateral ptosis\n", + " definition of HP:0007687 (Unilateral ptosis)\n", + " \n", + " \n", + " A unilateral form of ptosis.\n", + " definition of HP:0007687 (Unilateral ptosis)\n", + " \n", + " \n", + " #Dropping of one upper eyelid\n", + " definition of HP:0007687 (Unilateral ptosis)\n", + " \n", + " \n", + " Cavitation of the basal ganglia\n", + " definition of HP:0007007 (Cavitation of the basal ganglia)\n", + " \n", + " \n", + " The formation of small cavities in the tissue of the basal ganglia.\n", + " definition of HP:0007007 (Cavitation of the basal ganglia)\n", + " \n", + " \n", + " Narrow forehead\n", + " definition of HP:0000341 (Narrow forehead)\n", + " \n", + " \n", + " Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective).\n", + " definition of HP:0000341 (Narrow forehead)\n", + " \n", + " \n", + " #Bitemporal narrowing #Bitemporal narrowness #Bitemporal skull narrowing #Decreased width of the forehead #Intertemporal narrowing #Narrow bitemporal diameter #Narrow bitemporal width #Narrow forehead #Temporal narrowness\n", + " definition of HP:0000341 (Narrow forehead)\n", + " \n", + " \n", + " Incomplete cleft soft palate\n", + " definition of HP:5201006 (Incomplete cleft soft palate)\n", + " \n", + " \n", + " Cleft soft palate in which the cleft does not go through the entire length of the soft palate, i.e. the cleft does not go from the posterior border of the hard palate until the uvula.\n", + " definition of HP:5201006 (Incomplete cleft soft palate)\n", + " \n", + " \n", + " Thrombocytopenia\n", + " definition of HP:0001873 (Thrombocytopenia)\n", + " \n", + " \n", + " A reduction in the number of circulating thrombocytes.\n", + " definition of HP:0001873 (Thrombocytopenia)\n", + " \n", + " \n", + " #Low platelet count\n", + " definition of HP:0001873 (Thrombocytopenia)\n", + " \n", + " \n", + " Decreased size of nerve terminals\n", + " definition of HP:0003443 (Decreased size of nerve terminals)\n", + " \n", + " \n", + " A reduction in the size of nerve terminals.\n", + " definition of HP:0003443 (Decreased size of nerve terminals)\n", + " \n", + " \n", + " Diffuse lupus nephritis\n", + " definition of HP:0033727 (Diffuse lupus nephritis)\n", + " \n", + " \n", + " A subclass of lupus nephritis with active or inactive diffuse, segmental or global endocapillary or extracapillary glomerulonephritis involving at least 50% of all glomeruli, typically with diffuse subendothelial immune deposits, with or without mesangial alterations.\n", + " definition of HP:0033727 (Diffuse lupus nephritis)\n", + " \n", + " \n", + " #Class IV lupus nephritis\n", + " definition of HP:0033727 (Diffuse lupus nephritis)\n", + " \n", + " \n", + " Positive direct antiglobulin test\n", + " definition of HP:0032366 (Positive direct antiglobulin test)\n", + " \n", + " \n", + " A positive result of the direct antiglobulin test (DAT), a method of demonstrating the presence of antibody or complement bound to red blood cell (RBC) membranes by the use of anti-human globulin to form a visible agglutination reaction.\n", + " definition of HP:0032366 (Positive direct antiglobulin test)\n", + " \n", + " \n", + " Abnormal female meiosis\n", + " definition of HP:0033338 (Abnormal female meiosis)\n", + " \n", + " \n", + " Anomalous oocyte meiosis\n", + " definition of HP:0033338 (Abnormal female meiosis)\n", + " \n", + " \n", + " Pseudoepiphysis of the proximal phalanx of the 3rd toe\n", + " definition of HP:0100164 (Pseudoepiphysis of the proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " A pseudoepiphysis (an accessory epiphysis that does not significantly contribute to the longitudinal growth of a tubular bone) located in the proximal phalanx of the third toe.\n", + " definition of HP:0100164 (Pseudoepiphysis of the proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the optic tract\n", + " definition of HP:0011000 (Aplasia/Hypoplasia of the optic tract)\n", + " \n", + " \n", + " #Absent/small optic tract #Absent/underdeveloped optic tract\n", + " definition of HP:0011000 (Aplasia/Hypoplasia of the optic tract)\n", + " \n", + " \n", + " Descending aorta hypoplasia\n", + " definition of HP:0025495 (Descending aorta hypoplasia)\n", + " \n", + " \n", + " Significant luminal narrowing of a long segment of the descending aorta.\n", + " definition of HP:0025495 (Descending aorta hypoplasia)\n", + " \n", + " \n", + " Poor coordination\n", + " definition of HP:0002370 (Poor coordination)\n", + " \n", + " \n", + " #Poor coordination\n", + " definition of HP:0002370 (Poor coordination)\n", + " \n", + " \n", + " Axial muscle stiffness\n", + " definition of HP:0006921 (Axial muscle stiffness)\n", + " \n", + " \n", + " Stiffness (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) of the axial musculature.\n", + " definition of HP:0006921 (Axial muscle stiffness)\n", + " \n", + " \n", + " Wind-swept deformity of the knees\n", + " definition of HP:0100531 (Wind-swept deformity of the knees)\n", + " \n", + " \n", + " The appearance of abnormal valgus deformity in one knee in association with varus deformity in the other.\n", + " definition of HP:0100531 (Wind-swept deformity of the knees)\n", + " \n", + " \n", + " #Wind-swept deformity of the knees\n", + " definition of HP:0100531 (Wind-swept deformity of the knees)\n", + " \n", + " \n", + " Short 1st metacarpal\n", + " definition of HP:0010034 (Short 1st metacarpal)\n", + " \n", + " \n", + " A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand.\n", + " definition of HP:0010034 (Short 1st metacarpal)\n", + " \n", + " \n", + " #First metacarpal hypoplasia #First metacarpals hypoplastic #Hypoplastic 1st metacarpal #Short first metacarpal #Short first metacarpals #Shortened 1st long bone of hand\n", + " definition of HP:0010034 (Short 1st metacarpal)\n", + " \n", + " \n", + " Hypoplasia of the musculature\n", + " definition of HP:0009004 (Hypoplasia of the musculature)\n", + " \n", + " \n", + " Underdevelopment of the musculature.\n", + " definition of HP:0009004 (Hypoplasia of the musculature)\n", + " \n", + " \n", + " #Muscle hypoplasia #Poorly developed skeletal musculature #Underdeveloped muscle #Underdeveloped muscles\n", + " definition of HP:0009004 (Hypoplasia of the musculature)\n", + " \n", + " \n", + " Small epiphysis of the proximal phalanx of the 4th toe\n", + " definition of HP:0100199 (Small epiphysis of the proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " #Small end part of the innermost bone of the 4th toe\n", + " definition of HP:0100199 (Small epiphysis of the proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " Abnormal circulating valine concentration\n", + " definition of HP:0010914 (Abnormal circulating valine concentration)\n", + " \n", + " \n", + " Any deviation from the normal circulation of valine in the blood circulation.\n", + " definition of HP:0010914 (Abnormal circulating valine concentration)\n", + " \n", + " \n", + " #Abnormality of valine metabolism\n", + " definition of HP:0010914 (Abnormal circulating valine concentration)\n", + " \n", + " \n", + " Pinhole visual acuity 1.0 LogMAR\n", + " definition of HP:0030578 (Pinhole visual acuity 1.0 LogMAR)\n", + " \n", + " \n", + " Positive 2,4-dinitrophenylhydrazine urine test\n", + " definition of HP:6000124 (Positive 2,4-dinitrophenylhydrazine urine test)\n", + " \n", + " \n", + " Positive (abnormal) result of the 2,4-dinitrophenylhydrazine urine test, which indicates the presence of alpha-ketoacids in the urine.\n", + " definition of HP:6000124 (Positive 2,4-dinitrophenylhydrazine urine test)\n", + " \n", + " \n", + " History of wearing tightly fitted clothing\n", + " definition of HP:6000794 (History of wearing tightly fitted clothing)\n", + " \n", + " \n", + " History of wearing tight clothing such as compression shorts, sports bras, bike shorts, wet suits, spandex, veils, and tight hats.\n", + " definition of HP:6000794 (History of wearing tightly fitted clothing)\n", + " \n", + " \n", + " Decorticate rigidity\n", + " definition of HP:0011444 (Decorticate rigidity)\n", + " \n", + " \n", + " A type of rigidity in which the arms are in flexion and adduction and the legs are extended. This signifies a lesion in the cerebral white matter, internal capsules, or thalamus.\n", + " definition of HP:0011444 (Decorticate rigidity)\n", + " \n", + " \n", + " Long nose\n", + " definition of HP:0003189 (Long nose)\n", + " \n", + " \n", + " Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base.\n", + " definition of HP:0003189 (Long nose)\n", + " \n", + " \n", + " #Elongated nose #Increased height of nose #Increased length of nose #Increased nasal height #Increased nasal length #Long nose #Nasal elongation\n", + " definition of HP:0003189 (Long nose)\n", + " \n", + " \n", + " Intermittent episodes of respiratory insufficiency due to muscle weakness\n", + " definition of HP:0004889 (Intermittent episodes of respiratory insufficiency due to muscle weakness)\n", + " \n", + " \n", + " Abnormal response to glucagon stimulation test\n", + " definition of HP:0031080 (Abnormal response to glucagon stimulation test)\n", + " \n", + " \n", + " An anomalous response to the glucagon stimulation test, which like the insulin tolerance test (ITT) stimulates the release of both adrenocorticotropic hormone (ACTH) and growth hormone (GH).\n", + " definition of HP:0031080 (Abnormal response to glucagon stimulation test)\n", + " \n", + " \n", + " Localized neuroblastoma\n", + " definition of HP:0006768 (Localized neuroblastoma)\n", + " \n", + " \n", + " #Localised neuroblastoma\n", + " definition of HP:0006768 (Localized neuroblastoma)\n", + " \n", + " \n", + " Esophageal fibrosis\n", + " definition of HP:6000065 (Esophageal fibrosis)\n", + " \n", + " \n", + " Fibrosis located in the subepithelial portion of the esophagus. Fibrosisis is defined by the overgrowth, hardening, and/or scarring of various tissues and is attributed to excess deposition of extracellular matrix components including collagen.\n", + " definition of HP:6000065 (Esophageal fibrosis)\n", + " \n", + " \n", + " Hypoplasia of the pyramidal tract\n", + " definition of HP:0007348 (Hypoplasia of the pyramidal tract)\n", + " \n", + " \n", + " Small epiphyses of the hallux\n", + " definition of HP:0010121 (Small epiphyses of the hallux)\n", + " \n", + " \n", + " #Small end part of the big toe bone\n", + " definition of HP:0010121 (Small epiphyses of the hallux)\n", + " \n", + " \n", + " CD5 expression\n", + " definition of HP:0430094 (CD5 expression)\n", + " \n", + " \n", + " Detection of the presence of CD5 on the cell(s) of interest with the use of anti-CD5 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry).\n", + " definition of HP:0430094 (CD5 expression)\n", + " \n", + " \n", + " Pseudobulbar signs\n", + " definition of HP:0002200 (Pseudobulbar signs)\n", + " \n", + " \n", + " Pseudobulbar signs result from injury to an upper motor neuron lesion to the corticobulbar pathways in the pyramidal tract. Patients have difficulty chewing, swallowing and demonstrate slurred speech (often initial presentation) as well as abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc.\n", + " definition of HP:0002200 (Pseudobulbar signs)\n", + " \n", + " \n", + " #Pseudobulbar symptoms\n", + " definition of HP:0002200 (Pseudobulbar signs)\n", + " \n", + " \n", + " Decreased level of histidine-rich glycoprotein\n", + " definition of HP:0040227 (Decreased level of histidine-rich glycoprotein)\n", + " \n", + " \n", + " Decrease of these levels result in increased inhibition of fibrinolysis and reduced inhibition of coagulation\n", + " definition of HP:0040227 (Decreased level of histidine-rich glycoprotein)\n", + " \n", + " \n", + " Decreased facial expression mirroring\n", + " definition of HP:5200220 (Decreased facial expression mirroring)\n", + " \n", + " \n", + " Diminished mirroring or reflection of facial expressions in another person during social interactions.\n", + " definition of HP:5200220 (Decreased facial expression mirroring)\n", + " \n", + " \n", + " #Decreased facial expression reciprocity #Lack of facial mirroring\n", + " definition of HP:5200220 (Decreased facial expression mirroring)\n", + " \n", + " \n", + " Morning glory anomaly\n", + " definition of HP:0025514 (Morning glory anomaly)\n", + " \n", + " \n", + " An abnormality of the optic nerve in which the optic nerve is large and funneled and displays a conical excavation of the optic disc. The optic disc appears dysplastic.\n", + " definition of HP:0025514 (Morning glory anomaly)\n", + " \n", + " \n", + " #Morning glory disc anomaly #Morning glory disk anomaly #Morning glory optic disc\n", + " definition of HP:0025514 (Morning glory anomaly)\n", + " \n", + " \n", + " Mendelian inheritance\n", + " definition of HP:0034345 (Mendelian inheritance)\n", + " \n", + " \n", + " A mode of inheritance of diseases whose pathophysiology can be traced back to deleterious variants in a single gene. The inheritance patterns of these single-gene (monogenic) diseases are often referred to as Mendelian in honor of Gregor Mendel.\n", + " definition of HP:0034345 (Mendelian inheritance)\n", + " \n", + " \n", + " Squared-off platyspondyly\n", + " definition of HP:0008418 (Squared-off platyspondyly)\n", + " \n", + " \n", + " Aplasia of the bladder\n", + " definition of HP:0010477 (Aplasia of the bladder)\n", + " \n", + " \n", + " Aplasia (absence) of the urinary bladder.\n", + " definition of HP:0010477 (Aplasia of the bladder)\n", + " \n", + " \n", + " #Absent bladder\n", + " definition of HP:0010477 (Aplasia of the bladder)\n", + " \n", + " \n", + " Short middle phalanx of the 3rd finger\n", + " definition of HP:0009439 (Short middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " Hypoplasia (congenital reduction in size) of the middle phalanx of the third finger.\n", + " definition of HP:0009439 (Short middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Brachymesophalangy III (finger) #Hypoplastic/small middle phalanx of the 3rd finger #Short middle bone of middle finger\n", + " definition of HP:0009439 (Short middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " Renal hypophosphatemia\n", + " definition of HP:0008732 (Renal hypophosphatemia)\n", + " \n", + " \n", + " Renal hypophosphatemia is defined as reduced serum phosphate (e.g., below 0.70 mmol/l) and an inappropriately high renal phosphate excretion.\n", + " definition of HP:0008732 (Renal hypophosphatemia)\n", + " \n", + " \n", + " Enhancement of the C-reflex\n", + " definition of HP:0001340 (Enhancement of the C-reflex)\n", + " \n", + " \n", + " Increase in amplitude of a long-loop response upon somatosensory evoked potential testing, representing an electrically evoked myoclonic response.\n", + " definition of HP:0001340 (Enhancement of the C-reflex)\n", + " \n", + " \n", + " Posterior scalloping of vertebral bodies\n", + " definition of HP:0005121 (Posterior scalloping of vertebral bodies)\n", + " \n", + " \n", + " An excessive concavity of the posterior surface of one or more vertebral bodies.\n", + " definition of HP:0005121 (Posterior scalloping of vertebral bodies)\n", + " \n", + " \n", + " #Posterior vertebral body scalloping\n", + " definition of HP:0005121 (Posterior scalloping of vertebral bodies)\n", + " \n", + " \n", + " Osteoarthritis\n", + " definition of HP:0002758 (Osteoarthritis)\n", + " \n", + " \n", + " Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity.\n", + " definition of HP:0002758 (Osteoarthritis)\n", + " \n", + " \n", + " #Degenerative joint disease\n", + " definition of HP:0002758 (Osteoarthritis)\n", + " \n", + " \n", + " Decreased vigilance\n", + " definition of HP:0032044 (Decreased vigilance)\n", + " \n", + " \n", + " A decrease in the ability to maintain sustained attention is characterized by reduced alertness.\n", + " definition of HP:0032044 (Decreased vigilance)\n", + " \n", + " \n", + " #Decreased alertness\n", + " definition of HP:0032044 (Decreased vigilance)\n", + " \n", + " \n", + " Papillary renal cell carcinoma type 1\n", + " definition of HP:0011797 (Papillary renal cell carcinoma type 1)\n", + " \n", + " \n", + " A type of papillary renal cell carcinoma that is characterized by small cuboidal cells covering thin papillae with a single line of uniform nuclei and small nucleoli.\n", + " definition of HP:0011797 (Papillary renal cell carcinoma type 1)\n", + " \n", + " \n", + " Abnormal foveal morphology\n", + " definition of HP:0000493 (Abnormal foveal morphology)\n", + " \n", + " \n", + " An abnormality of the fovea centralis, the central area of the macula that mediates central, high resolution vision and contains the largest concentration of cone cells in the retina.\n", + " definition of HP:0000493 (Abnormal foveal morphology)\n", + " \n", + " \n", + " #Abnormality of the fovea\n", + " definition of HP:0000493 (Abnormal foveal morphology)\n", + " \n", + " \n", + " Receptive aphasia\n", + " definition of HP:0033848 (Receptive aphasia)\n", + " \n", + " \n", + " A type of aphasia that is characterized by impaired language comprehension.\n", + " definition of HP:0033848 (Receptive aphasia)\n", + " \n", + " \n", + " #Fluent aphasia #Wernicke aphasia\n", + " definition of HP:0033848 (Receptive aphasia)\n", + " \n", + " \n", + " Decreased circulating chenodeoxycholic acid concentration\n", + " definition of HP:0034048 (Decreased circulating chenodeoxycholic acid concentration)\n", + " \n", + " \n", + " A reduced concentration of chenodeoxycholic acid in the blood circulation.\n", + " definition of HP:0034048 (Decreased circulating chenodeoxycholic acid concentration)\n", + " \n", + " \n", + " #Decreased circulating chenodiol concentration\n", + " definition of HP:0034048 (Decreased circulating chenodeoxycholic acid concentration)\n", + " \n", + " \n", + " Unhappy demeanor\n", + " definition of HP:0031588 (Unhappy demeanor)\n", + " \n", + " \n", + " A noticeably unhappy disposition is characterized by negative assumptions, self-defeating talk, fear of failure, and negative rumination about past events.\n", + " definition of HP:0031588 (Unhappy demeanor)\n", + " \n", + " \n", + " #Unhappy demeanour\n", + " definition of HP:0031588 (Unhappy demeanor)\n", + " \n", + " \n", + " Decreased circulating complement C4 concentration\n", + " definition of HP:0045042 (Decreased circulating complement C4 concentration)\n", + " \n", + " \n", + " Concentration of the complement component C4 in the blood circulation below the lower limit of normal.\n", + " definition of HP:0045042 (Decreased circulating complement C4 concentration)\n", + " \n", + " \n", + " #Decreased serum complement C4 #Decreased serum complement C4 level\n", + " definition of HP:0045042 (Decreased circulating complement C4 concentration)\n", + " \n", + " \n", + " Upper limb undergrowth\n", + " definition of HP:0009824 (Upper limb undergrowth)\n", + " \n", + " \n", + " Arm shortening because of underdevelopment of one or more bones of the upper extremity.\n", + " definition of HP:0009824 (Upper limb undergrowth)\n", + " \n", + " \n", + " #Hypoplasia involving bones of the upper limbs #Short arms #Shortening of the arms #Upper limb undergrowth\n", + " definition of HP:0009824 (Upper limb undergrowth)\n", + " \n", + " \n", + " Elevated urinary phosphohydroxylysine level\n", + " definition of HP:6000806 (Elevated urinary phosphohydroxylysine level)\n", + " \n", + " \n", + " The amount of phosphohydroxylysine in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000806 (Elevated urinary phosphohydroxylysine level)\n", + " \n", + " \n", + " Maternal amniocentesis\n", + " definition of HP:0034856 (Maternal amniocentesis)\n", + " \n", + " \n", + " A history of amniocentesis having been performed in the mother of a fetus or index patient.\n", + " definition of HP:0034856 (Maternal amniocentesis)\n", + " \n", + " \n", + " Flaky paint dermatosis\n", + " definition of HP:0032178 (Flaky paint dermatosis)\n", + " \n", + " \n", + " A dermatosis characterized by generalized shiny, enamel-like, hyperpigmented scales in an irregular pattern. The scales may peel or desquamate, rather like old, sun-baked blistered paint, often with areas of underlying hypopigmentation. This has led to the terms peeling paint or flaky paint dermatosis (See the Figure in PMID:24285001).\n", + " definition of HP:0032178 (Flaky paint dermatosis)\n", + " \n", + " \n", + " #Flaky paint skin appearance\n", + " definition of HP:0032178 (Flaky paint dermatosis)\n", + " \n", + " \n", + " Normochromic anemia\n", + " definition of HP:0001895 (Normochromic anemia)\n", + " \n", + " \n", + " #Normochromic anaemia\n", + " definition of HP:0001895 (Normochromic anemia)\n", + " \n", + " \n", + " Neoplasm of the inner ear\n", + " definition of HP:0040096 (Neoplasm of the inner ear)\n", + " \n", + " \n", + " A tumor (abnormal growth of tissue) of the inner ear.\n", + " definition of HP:0040096 (Neoplasm of the inner ear)\n", + " \n", + " \n", + " #Inner ear tumor #Inner ear tumour\n", + " definition of HP:0040096 (Neoplasm of the inner ear)\n", + " \n", + " \n", + " Abnormal placental membrane morphology\n", + " definition of HP:0011409 (Abnormal placental membrane morphology)\n", + " \n", + " \n", + " Structural anomaly of the fetal membranes (also known as the amniochorionic or placental membranes), which comprise a vital intrauterine compartment, where they perform mechanical, immune, and endocrine functions to promote growth of the fetus and protection from environmental adversity. Amniochorionic membranes anatomically consist of a single layer of cuboidal amnion epithelial cells, chorionic trophoblasts, and scattered fibroblasts connected by a layer of type IV collagen-rich extracellular matrix.\n", + " definition of HP:0011409 (Abnormal placental membrane morphology)\n", + " \n", + " \n", + " #Abnormality of placental membranes\n", + " definition of HP:0011409 (Abnormal placental membrane morphology)\n", + " \n", + " \n", + " Rhabdoid tumor of the kidney\n", + " definition of HP:0034402 (Rhabdoid tumor of the kidney)\n", + " \n", + " \n", + " A highly aggressive, extremely rare neoplasm of the kidney that is usually seen in children. The term rhabdoid is used because the tumor cells resemble rhabdomyoblasts but lack myogenic markers, and pathologic diagnosis requires familiarity with these microscopic features plus awareness that adult onset is possible. It can be associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm.\n", + " definition of HP:0034402 (Rhabdoid tumor of the kidney)\n", + " \n", + " \n", + " #Malignant rhabdoid tumor of the kidney #Malignant rhabdoid tumour of the kidney\n", + " definition of HP:0034402 (Rhabdoid tumor of the kidney)\n", + " \n", + " \n", + " Muscle stiffness\n", + " definition of HP:0003552 (Muscle stiffness)\n", + " \n", + " \n", + " A condition in which muscles cannot be moved quickly without accompanying pain or spasm.\n", + " definition of HP:0003552 (Muscle stiffness)\n", + " \n", + " \n", + " Exercise-induced myalgia\n", + " definition of HP:0003738 (Exercise-induced myalgia)\n", + " \n", + " \n", + " The occurrence of an unusually high amount of muscle pain following exercise.\n", + " definition of HP:0003738 (Exercise-induced myalgia)\n", + " \n", + " \n", + " #Exercise-induced muscle pain #Muscle pain on exercise #Muscle pain with exercise #Muscle pain, exercise-induced\n", + " definition of HP:0003738 (Exercise-induced myalgia)\n", + " \n", + " \n", + " Displaced fracture\n", + " definition of HP:4000053 (Displaced fracture)\n", + " \n", + " \n", + " A type of fracture in which the ends of the fractured bone are no longer aligned.\n", + " definition of HP:4000053 (Displaced fracture)\n", + " \n", + " \n", + " Symphalangism affecting the phalanges of the 5th toe\n", + " definition of HP:0010389 (Symphalangism affecting the phalanges of the 5th toe)\n", + " \n", + " \n", + " #Fused bones in the little toe #Fused bones in the pinkie toe #Fused bones in the pinky toe\n", + " definition of HP:0010389 (Symphalangism affecting the phalanges of the 5th toe)\n", + " \n", + " \n", + " Increased urinary 1-methylhistidine\n", + " definition of HP:0410315 (Increased urinary 1-methylhistidine)\n", + " \n", + " \n", + " Increased concentration of 1-methylhistidine in the urine.\n", + " definition of HP:0410315 (Increased urinary 1-methylhistidine)\n", + " \n", + " \n", + " #1-Methylhistidinuria\n", + " definition of HP:0410315 (Increased urinary 1-methylhistidine)\n", + " \n", + " \n", + " Tented philtrum\n", + " definition of HP:0011825 (Tented philtrum)\n", + " \n", + " \n", + " Prominence of a triangular soft tissue area of the philtrum with the apex to the columella.\n", + " definition of HP:0011825 (Tented philtrum)\n", + " \n", + " \n", + " #Philtrum, Tented\n", + " definition of HP:0011825 (Tented philtrum)\n", + " \n", + " \n", + " Stomatitis\n", + " definition of HP:0010280 (Stomatitis)\n", + " \n", + " \n", + " Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth.\n", + " definition of HP:0010280 (Stomatitis)\n", + " \n", + " \n", + " #Inflammation of the mouth\n", + " definition of HP:0010280 (Stomatitis)\n", + " \n", + " \n", + " Macrodactyly of toe\n", + " definition of HP:0100747 (Macrodactyly of toe)\n", + " \n", + " \n", + " A type of Macrodactyly affecting one or several toes.\n", + " definition of HP:0100747 (Macrodactyly of toe)\n", + " \n", + " \n", + " #Foot macrodactyly\n", + " definition of HP:0100747 (Macrodactyly of toe)\n", + " \n", + " \n", + " Elevated circulating creatine kinase concentration\n", + " definition of HP:0003236 (Elevated circulating creatine kinase concentration)\n", + " \n", + " \n", + " An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.\n", + " definition of HP:0003236 (Elevated circulating creatine kinase concentration)\n", + " \n", + " \n", + " #Elevated blood creatine phosphokinase #Elevated circulating creatine phosphokinase #Elevated creatine kinase #Elevated serum CPK #Elevated serum creatine kinase #Elevated serum creatine phosphokinase #High serum creatine kinase #Increased CPK #Increased creatine kinase #Increased creatine phosphokinase #Increased serum CK #Increased serum creatine kinase #Increased serum creatine phosphokinase\n", + " definition of HP:0003236 (Elevated circulating creatine kinase concentration)\n", + " \n", + " \n", + " Abnormal fingertip morphology\n", + " definition of HP:0001211 (Abnormal fingertip morphology)\n", + " \n", + " \n", + " An abnormal structure of the tip (end) of a finger.\n", + " definition of HP:0001211 (Abnormal fingertip morphology)\n", + " \n", + " \n", + " #Abnormality of the fingertips\n", + " definition of HP:0001211 (Abnormal fingertip morphology)\n", + " \n", + " \n", + " Small cervical vertebral bodies\n", + " definition of HP:0004629 (Small cervical vertebral bodies)\n", + " \n", + " \n", + " Reduced size of cervical vertebrae.\n", + " definition of HP:0004629 (Small cervical vertebral bodies)\n", + " \n", + " \n", + " #Small cervical vertebrae\n", + " definition of HP:0004629 (Small cervical vertebral bodies)\n", + " \n", + " \n", + " Recurrent Neisserial infections\n", + " definition of HP:0005430 (Recurrent Neisserial infections)\n", + " \n", + " \n", + " Recurrent infections by bacteria of the genus Neisseria, including N. meningitidis (one of the most common causes of bacterial meningitis).\n", + " definition of HP:0005430 (Recurrent Neisserial infections)\n", + " \n", + " \n", + " #Episodes of neisserial infection #Recurrent neisseria infections\n", + " definition of HP:0005430 (Recurrent Neisserial infections)\n", + " \n", + " \n", + " Primary gonadal insufficiency\n", + " definition of HP:0008193 (Primary gonadal insufficiency)\n", + " \n", + " \n", + " Flushing\n", + " definition of HP:0031284 (Flushing)\n", + " \n", + " \n", + " Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin.\n", + " definition of HP:0031284 (Flushing)\n", + " \n", + " \n", + " Microtropia with identity\n", + " definition of HP:0031781 (Microtropia with identity)\n", + " \n", + " \n", + " A type of microtropia with no manifest movement on cover test, the eccentric fixation point coinciding with the angle of ARC.\n", + " definition of HP:0031781 (Microtropia with identity)\n", + " \n", + " \n", + " Prominent floating ribs\n", + " definition of HP:0006641 (Prominent floating ribs)\n", + " \n", + " \n", + " #Prominent floating ribs\n", + " definition of HP:0006641 (Prominent floating ribs)\n", + " \n", + " \n", + " Forearm undergrowth\n", + " definition of HP:0009821 (Forearm undergrowth)\n", + " \n", + " \n", + " Forearm shortening because of underdevelopment of one or more bones of the forearm.\n", + " definition of HP:0009821 (Forearm undergrowth)\n", + " \n", + " \n", + " #Forearm undergrowth #Hypoplasia involving forearm bones #Short forearm bones #Short forearms #Shortened forearm\n", + " definition of HP:0009821 (Forearm undergrowth)\n", + " \n", + " \n", + " Hand monodactyly\n", + " definition of HP:0004058 (Hand monodactyly)\n", + " \n", + " \n", + " Twelfth rib hypoplasia\n", + " definition of HP:0006668 (Twelfth rib hypoplasia)\n", + " \n", + " \n", + " #Small twelfth rib #Underdeveloped twelfth rib\n", + " definition of HP:0006668 (Twelfth rib hypoplasia)\n", + " \n", + " \n", + " Opacification of the corneal epithelium\n", + " definition of HP:0007727 (Opacification of the corneal epithelium)\n", + " \n", + " \n", + " Lack of transparency of the corneal epithelium.\n", + " definition of HP:0007727 (Opacification of the corneal epithelium)\n", + " \n", + " \n", + " #Superficial corneal opacities\n", + " definition of HP:0007727 (Opacification of the corneal epithelium)\n", + " \n", + " \n", + " Abnormal odontoid process morphology\n", + " definition of HP:0003310 (Abnormal odontoid process morphology)\n", + " \n", + " \n", + " Abnormal structure of the odontoid process, which is a part of the C2 or axis vertebra and forms pivot of the structures forming the craniovertebral junction. The odontoid process is also known as the dens of the axis.\n", + " definition of HP:0003310 (Abnormal odontoid process morphology)\n", + " \n", + " \n", + " #Abnormal odontoid peg #Abnormal odontoid process #Abnormality of the odontoid process\n", + " definition of HP:0003310 (Abnormal odontoid process morphology)\n", + " \n", + " \n", + " Respiratory infections in early life\n", + " definition of HP:0004880 (Respiratory infections in early life)\n", + " \n", + " \n", + " Increased susceptibility to respiratory infections in early life, as manifested by recurrent episodes of respiratory infections.\n", + " definition of HP:0004880 (Respiratory infections in early life)\n", + " \n", + " \n", + " Hypopnea\n", + " definition of HP:0040213 (Hypopnea)\n", + " \n", + " \n", + " Hypopnea is referring to breathing that is abnormally shallow.\n", + " definition of HP:0040213 (Hypopnea)\n", + " \n", + " \n", + " #Shallow breathing\n", + " definition of HP:0040213 (Hypopnea)\n", + " \n", + " \n", + " Abnormal HDL3a concentration\n", + " definition of HP:0032425 (Abnormal HDL3a concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of the HDL3a subfraction in the blood circulation. An HDL3a particle is defined as an HDL particle with a size of 8.2-8.79 nm.\n", + " definition of HP:0032425 (Abnormal HDL3a concentration)\n", + " \n", + " \n", + " Peripheral amyelination\n", + " definition of HP:0030172 (Peripheral amyelination)\n", + " \n", + " \n", + " Congenital absence of the myelin sheath on a nerve.\n", + " definition of HP:0030172 (Peripheral amyelination)\n", + " \n", + " \n", + " Reduced uroporphyrinogen decarboxylase activity\n", + " definition of HP:0034715 (Reduced uroporphyrinogen decarboxylase activity)\n", + " \n", + " \n", + " Activity of the enzyme uroporphyrinogen decarboxylase (UROD; EC 4.1.1.37) below the lower limit of normal.\n", + " definition of HP:0034715 (Reduced uroporphyrinogen decarboxylase activity)\n", + " \n", + " \n", + " Severe norovirus infection\n", + " definition of HP:0020099 (Severe norovirus infection)\n", + " \n", + " \n", + " An unusually severe course of infection with Human norovirus, previously known as Norwalk virus. Norovirus, an RNA virus of the family Caliciviridae, is a human enteric pathogen. Norovirus infection-associated illness may also be more prolonged and severe in immunocompromised individuals and may be associated with remarkably persistent viral excretion in some of these individuals.\n", + " definition of HP:0020099 (Severe norovirus infection)\n", + " \n", + " \n", + " Fragmentation of the epiphyses of the 4th toe\n", + " definition of HP:0100070 (Fragmentation of the epiphyses of the 4th toe)\n", + " \n", + " \n", + " #Fragmentation of the end part of the 4th toe bone\n", + " definition of HP:0100070 (Fragmentation of the epiphyses of the 4th toe)\n", + " \n", + " \n", + " Atrophy of masseter muscle\n", + " definition of HP:0045085 (Atrophy of masseter muscle)\n", + " \n", + " \n", + " #Atrophied masseter muscle #Masseter muscle atrophy\n", + " definition of HP:0045085 (Atrophy of masseter muscle)\n", + " \n", + " \n", + " Branched-chain aminoaciduria\n", + " definition of HP:0033089 (Branched-chain aminoaciduria)\n", + " \n", + " \n", + " An increased level of a branched chain family amino acid in the urine.\n", + " definition of HP:0033089 (Branched-chain aminoaciduria)\n", + " \n", + " \n", + " Polyneuritis\n", + " definition of HP:0031003 (Polyneuritis)\n", + " \n", + " \n", + " Simultaneous inflammation of multiple nerves.\n", + " definition of HP:0031003 (Polyneuritis)\n", + " \n", + " \n", + " #Multiple neuritis\n", + " definition of HP:0031003 (Polyneuritis)\n", + " \n", + " \n", + " Cellular hypersensitivity to diepoxybutane\n", + " definition of HP:0032189 (Cellular hypersensitivity to diepoxybutane)\n", + " \n", + " \n", + " An increased cellular sensitivity to the DNA cross-linking agent, diepoxybutane (DEB). In the presence of increased sensitivity, DEB causes cell death, chromosome breakage, and accumulation in the G2 phase of the cell cycle.\n", + " definition of HP:0032189 (Cellular hypersensitivity to diepoxybutane)\n", + " \n", + " \n", + " Pulmonary embolism\n", + " definition of HP:0002204 (Pulmonary embolism)\n", + " \n", + " \n", + " An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery.\n", + " definition of HP:0002204 (Pulmonary embolism)\n", + " \n", + " \n", + " #Blood clot in artery of lung\n", + " definition of HP:0002204 (Pulmonary embolism)\n", + " \n", + " \n", + " Diffuse cerebellar atrophy\n", + " definition of HP:0100275 (Diffuse cerebellar atrophy)\n", + " \n", + " \n", + " Diffuse unlocalised atrophy affecting the cerebellum.\n", + " definition of HP:0100275 (Diffuse cerebellar atrophy)\n", + " \n", + " \n", + " Sleep myoclonus\n", + " definition of HP:0012323 (Sleep myoclonus)\n", + " \n", + " \n", + " Myoclonus that occurs during the initial phases of sleep.\n", + " definition of HP:0012323 (Sleep myoclonus)\n", + " \n", + " \n", + " Abnormal urine magnesium concentration\n", + " definition of HP:0012607 (Abnormal urine magnesium concentration)\n", + " \n", + " \n", + " An abnormal concentration of magnesium the urine.\n", + " definition of HP:0012607 (Abnormal urine magnesium concentration)\n", + " \n", + " \n", + " #Abnormal urine magnesium concentration\n", + " definition of HP:0012607 (Abnormal urine magnesium concentration)\n", + " \n", + " \n", + " Excessive bleeding from superficial cuts\n", + " definition of HP:0030138 (Excessive bleeding from superficial cuts)\n", + " \n", + " \n", + " An abnormally increased degree of bleeding following a superficial injury to the surface of the skin.\n", + " definition of HP:0030138 (Excessive bleeding from superficial cuts)\n", + " \n", + " \n", + " #Excessive bleeding from superficial cuts\n", + " definition of HP:0030138 (Excessive bleeding from superficial cuts)\n", + " \n", + " \n", + " Decreased VLDL cholesterol concentration\n", + " definition of HP:0031243 (Decreased VLDL cholesterol concentration)\n", + " \n", + " \n", + " A reduction in the amount of very-low-density lipoprotein cholesterol in the blood.\n", + " definition of HP:0031243 (Decreased VLDL cholesterol concentration)\n", + " \n", + " \n", + " #Decreased circulating very-low-density lipoprotein levels\n", + " definition of HP:0031243 (Decreased VLDL cholesterol concentration)\n", + " \n", + " \n", + " Intercostal muscle weakness\n", + " definition of HP:0004878 (Intercostal muscle weakness)\n", + " \n", + " \n", + " Lack of strength of the intercostal muscles, i.e., of the muscle groups running along the ribs that create and move the chest wall.\n", + " definition of HP:0004878 (Intercostal muscle weakness)\n", + " \n", + " \n", + " #Muscle weakness between ribs\n", + " definition of HP:0004878 (Intercostal muscle weakness)\n", + " \n", + " \n", + " Streaks of hyperkeratosis along each finger onto the palm\n", + " definition of HP:0007501 (Streaks of hyperkeratosis along each finger onto the palm)\n", + " \n", + " \n", + " Congenital microthorax\n", + " definition of HP:0006647 (Congenital microthorax)\n", + " \n", + " \n", + " Absent extraocular muscles\n", + " definition of HP:0007886 (Absent extraocular muscles)\n", + " \n", + " \n", + " Congenital absence of the extraocular muscles.\n", + " definition of HP:0007886 (Absent extraocular muscles)\n", + " \n", + " \n", + " #Missing eye muscles\n", + " definition of HP:0007886 (Absent extraocular muscles)\n", + " \n", + " \n", + " Focal sensory seizure\n", + " definition of HP:0011157 (Focal sensory seizure)\n", + " \n", + " \n", + " A focal sensory seizure is a type seizure beginning with a subjective sensation.\n", + " definition of HP:0011157 (Focal sensory seizure)\n", + " \n", + " \n", + " #Focal sensory seizures #Partial sensory seizure #Sensory aura\n", + " definition of HP:0011157 (Focal sensory seizure)\n", + " \n", + " \n", + " Limited extraocular movements\n", + " definition of HP:0007941 (Limited extraocular movements)\n", + " \n", + " \n", + " Limited mobility of the eye within its socket.\n", + " definition of HP:0007941 (Limited extraocular movements)\n", + " \n", + " \n", + " #Limited extraocular movement\n", + " definition of HP:0007941 (Limited extraocular movements)\n", + " \n", + " \n", + " Decreased fertility in males\n", + " definition of HP:0012041 (Decreased fertility in males)\n", + " \n", + " \n", + " #Decreased fertility in males\n", + " definition of HP:0012041 (Decreased fertility in males)\n", + " \n", + " \n", + " Increased fecal coproporphyrin 1\n", + " definition of HP:0033009 (Increased fecal coproporphyrin 1)\n", + " \n", + " \n", + " Abnormally high concentration of coproporphyrin 1 in feces.\n", + " definition of HP:0033009 (Increased fecal coproporphyrin 1)\n", + " \n", + " \n", + " #Elevated faecal coproporphyrin 1 #Elevated fecal coproporphyrin 1 #Elevated stool coproporphyrin 1 #High faecal coproporphyrin 1 #High fecal coproporphyrin 1 #High stool coproporphyrin 1 #Increased faecal coproporphyrin 1\n", + " definition of HP:0033009 (Increased fecal coproporphyrin 1)\n", + " \n", + " \n", + " Curved dental root\n", + " definition of HP:4000104 (Curved dental root)\n", + " \n", + " \n", + " A root of a tooth that is more rounded than normal.\n", + " definition of HP:4000104 (Curved dental root)\n", + " \n", + " \n", + " #Dental roots curved\n", + " definition of HP:4000104 (Curved dental root)\n", + " \n", + " \n", + " Hyperkinetic status epilepticus\n", + " definition of HP:0032666 (Hyperkinetic status epilepticus)\n", + " \n", + " \n", + " Status epilepticus characterized by continuous hyperkinetic proximal limb or axial muscles producing irregular sequential ballistic movements such as pedaling pelvic thrusting, thrashing, or rocking movements.\n", + " definition of HP:0032666 (Hyperkinetic status epilepticus)\n", + " \n", + " \n", + " Positive fecal cryptosporidium antigen test\n", + " definition of HP:6000838 (Positive fecal cryptosporidium antigen test)\n", + " \n", + " \n", + " Cryptosporidium antigen present in stool. Tests include direct fluorescent-antibody (DFA), which detects intact organisms, and enzyme immunoassays (EIAs), which detect soluble stool antigens.\n", + " definition of HP:6000838 (Positive fecal cryptosporidium antigen test)\n", + " \n", + " \n", + " Irregular epiphyses of the 3rd finger\n", + " definition of HP:0009415 (Irregular epiphyses of the 3rd finger)\n", + " \n", + " \n", + " Irregular radiographic opacity of the epiphyses of the 3rd finger.\n", + " definition of HP:0009415 (Irregular epiphyses of the 3rd finger)\n", + " \n", + " \n", + " #Irregular end part of middle finger bone\n", + " definition of HP:0009415 (Irregular epiphyses of the 3rd finger)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the pyramidal tract\n", + " definition of HP:0007363 (Aplasia/Hypoplasia of the pyramidal tract)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the macula\n", + " definition of HP:0008059 (Aplasia/Hypoplasia of the macula)\n", + " \n", + " \n", + " #Absent/underdeveloped macula\n", + " definition of HP:0008059 (Aplasia/Hypoplasia of the macula)\n", + " \n", + " \n", + " Atrioventricular block\n", + " definition of HP:0001678 (Atrioventricular block)\n", + " \n", + " \n", + " Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles.\n", + " definition of HP:0001678 (Atrioventricular block)\n", + " \n", + " \n", + " #Interruption of electrical communication between upper and lower chambers of heart\n", + " definition of HP:0001678 (Atrioventricular block)\n", + " \n", + " \n", + " Lymph-node proliferation centers\n", + " definition of HP:0020269 (Lymph-node proliferation centers)\n", + " \n", + " \n", + " Proliferation centers are a finding specific to chronic lymphocytic leukemia/small lymphocytic lymphoma where regions (typically relatively small, comparable to the size of a lymph node follicle) appear more pale on H&E stained sections (though they may become enlarged to merge together). These areas contain increased numbers of enlarged lymphoma cells with nucleoli (prolymphocytes and paraimmunoblasts) and show a higher proliferation rate (readily visualized with a Ki-67 immunohistochemical stain) than surrounding lymphoma cells. They can be mistaken as vague follicle formation and are therefore sometimes referred to as pseudofollicles.\n", + " definition of HP:0020269 (Lymph-node proliferation centers)\n", + " \n", + " \n", + " #Pseudofollicles\n", + " definition of HP:0020269 (Lymph-node proliferation centers)\n", + " \n", + " \n", + " Adrenal leiomyoma\n", + " definition of HP:0034549 (Adrenal leiomyoma)\n", + " \n", + " \n", + " Adrenal leiomyoma is a rare, benign solid tumor that develops from the smooth muscle of the adrenal vein and its tributaries\n", + " definition of HP:0034549 (Adrenal leiomyoma)\n", + " \n", + " \n", + " Increased circulating IgM level\n", + " definition of HP:0003496 (Increased circulating IgM level)\n", + " \n", + " \n", + " An abnormally increased level of immunoglobulin M in blood.\n", + " definition of HP:0003496 (Increased circulating IgM level)\n", + " \n", + " \n", + " #Increased IgM levels #Increased levels of IgM\n", + " definition of HP:0003496 (Increased circulating IgM level)\n", + " \n", + " \n", + " Reduced muscle fiber merosin\n", + " definition of HP:0030092 (Reduced muscle fiber merosin)\n", + " \n", + " \n", + " A reduced amount of merosin in muscle fibers. This feature is usually assessed by immunohistochemical examination of muscle biopsy tissue.\n", + " definition of HP:0030092 (Reduced muscle fiber merosin)\n", + " \n", + " \n", + " #Reduced muscle fibre merosin\n", + " definition of HP:0030092 (Reduced muscle fiber merosin)\n", + " \n", + " \n", + " Agenesis of permanent molar\n", + " definition of HP:0011055 (Agenesis of permanent molar)\n", + " \n", + " \n", + " Agenesis of secondary molar tooth.\n", + " definition of HP:0011055 (Agenesis of permanent molar)\n", + " \n", + " \n", + " #Agenesis of secondary molar #Failure of development of permanent molar #Failure of development of secondary molar\n", + " definition of HP:0011055 (Agenesis of permanent molar)\n", + " \n", + " \n", + " Absent nasal cartilage\n", + " definition of HP:0030028 (Absent nasal cartilage)\n", + " \n", + " \n", + " Lack of a palpable nasal cartilage.\n", + " definition of HP:0030028 (Absent nasal cartilage)\n", + " \n", + " \n", + " #Absent cartilage of nose #Absent nasal cartilage #Agenesis of cartilage of nose #Agenesis of nasal cartilage #Failure of development of cartilage of nose #Failure of development of nasal cartilage #Missing cartilage of nose #Missing nasal cartilage\n", + " definition of HP:0030028 (Absent nasal cartilage)\n", + " \n", + " \n", + " Talipes equinovarus\n", + " definition of HP:0001762 (Talipes equinovarus)\n", + " \n", + " \n", + " Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.\n", + " definition of HP:0001762 (Talipes equinovarus)\n", + " \n", + " \n", + " #Club feet #Club foot #Clubbing of feet #Clubfeet #Clubfoot #Equinovarus #Foot, talipes equinovarus #Pes equinovarus #Pes equinus #Talipes varus\n", + " definition of HP:0001762 (Talipes equinovarus)\n", + " \n", + " \n", + " Plantar flexion contracture\n", + " definition of HP:0008112 (Plantar flexion contracture)\n", + " \n", + " \n", + " A type of contracture in which the plantar flexion muscles are contracted.\n", + " definition of HP:0008112 (Plantar flexion contracture)\n", + " \n", + " \n", + " #Plantar flexion contractures\n", + " definition of HP:0008112 (Plantar flexion contracture)\n", + " \n", + " \n", + " Abnormal circulating IgE concentration\n", + " definition of HP:0410241 (Abnormal circulating IgE concentration)\n", + " \n", + " \n", + " An abnormal deviation from normal levels of IgE immunoglobulin in blood.\n", + " definition of HP:0410241 (Abnormal circulating IgE concentration)\n", + " \n", + " \n", + " #Abnormal circulating IgE level #Abnormal IgE level in blood\n", + " definition of HP:0410241 (Abnormal circulating IgE concentration)\n", + " \n", + " \n", + " Splenic necrosis\n", + " definition of HP:6000232 (Splenic necrosis)\n", + " \n", + " \n", + " Cell dealth (necrosis) located in the spleen.\n", + " definition of HP:6000232 (Splenic necrosis)\n", + " \n", + " \n", + " Right-to-left shunt\n", + " definition of HP:0001694 (Right-to-left shunt)\n", + " \n", + " \n", + " Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the right side of the heart to the left.\n", + " definition of HP:0001694 (Right-to-left shunt)\n", + " \n", + " \n", + " Abnormal subthalamic nucleus morphology\n", + " definition of HP:0025737 (Abnormal subthalamic nucleus morphology)\n", + " \n", + " \n", + " Any structural anomaly of the subthalamic nucleus, a small lens-shaped structure located within the diencephalon near the junction with the midbrain. The subthalamic nucleus composes the majority of the subthalamus along with the subthalamic fasciculus, ansa lenticularis, and several other smaller structures.\n", + " definition of HP:0025737 (Abnormal subthalamic nucleus morphology)\n", + " \n", + " \n", + " Abnormality of mitochondrial metabolism\n", + " definition of HP:0003287 (Abnormality of mitochondrial metabolism)\n", + " \n", + " \n", + " A functional anomaly of mitochondria.\n", + " definition of HP:0003287 (Abnormality of mitochondrial metabolism)\n", + " \n", + " \n", + " #Mitochondrial dysfunction\n", + " definition of HP:0003287 (Abnormality of mitochondrial metabolism)\n", + " \n", + " \n", + " Focal impaired awareness autonomic seizure with urge to urinate/defecate\n", + " definition of HP:0032774 (Focal impaired awareness autonomic seizure with urge to urinate/defecate)\n", + " \n", + " \n", + " A focal autonomic seizure with urge to urinate / defecate characterized by impaired awareness at some point during the seizure.\n", + " definition of HP:0032774 (Focal impaired awareness autonomic seizure with urge to urinate/defecate)\n", + " \n", + " \n", + " Underfolded superior helices\n", + " definition of HP:0008583 (Underfolded superior helices)\n", + " \n", + " \n", + " A condition in which the superior portion of the helix is folded over to a lesser degree than normal.\n", + " definition of HP:0008583 (Underfolded superior helices)\n", + " \n", + " \n", + " Focal epileptiform discharges with limited propagation to contralateral hemisphere\n", + " definition of HP:0011186 (Focal epileptiform discharges with limited propagation to contralateral hemisphere)\n", + " \n", + " \n", + " Focal epileptiform discharges with spreading to contralateral hemisphere but without secondary generalization.\n", + " definition of HP:0011186 (Focal epileptiform discharges with limited propagation to contralateral hemisphere)\n", + " \n", + " \n", + " Fibular deviation of the 4th toe\n", + " definition of HP:0100340 (Fibular deviation of the 4th toe)\n", + " \n", + " \n", + " Abnormal natural killer cell morphology\n", + " definition of HP:0012176 (Abnormal natural killer cell morphology)\n", + " \n", + " \n", + " An anomaly of the natural killer cell, which is a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors. It also regulates immune responses via cytokine release and direct contact with other cells.\n", + " definition of HP:0012176 (Abnormal natural killer cell morphology)\n", + " \n", + " \n", + " #Abnormal NK cells #Abnormality of natural killer cells\n", + " definition of HP:0012176 (Abnormal natural killer cell morphology)\n", + " \n", + " \n", + " Fragmentation of the epiphysis of the proximal phalanx of the 5th finger\n", + " definition of HP:0009202 (Fragmentation of the epiphysis of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " Fragmented appearance of the epiphysis of the proximal phalanx of the 5th finger.\n", + " definition of HP:0009202 (Fragmentation of the epiphysis of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " #Fragmentation of end part of the innermost bone of the little finger #Fragmentation of end part of the innermost bone of the pinkie finger #Fragmentation of end part of the innermost bone of the pinky finger\n", + " definition of HP:0009202 (Fragmentation of the epiphysis of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " Abnormal peritubular capillary morphology\n", + " definition of HP:0033859 (Abnormal peritubular capillary morphology)\n", + " \n", + " \n", + " Anomalous structure of the capillaries that are derived from the efferent arteriole, forming a capillary network that surrounds the distal portions of the nephron tubule,\n", + " definition of HP:0033859 (Abnormal peritubular capillary morphology)\n", + " \n", + " \n", + " Enlarged epiphysis of the proximal phalanx of the 2nd finger\n", + " definition of HP:0009527 (Enlarged epiphysis of the proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Enlarged end part of innermost long bone of index finger #Large epiphysis of proximal index finger phalanx\n", + " definition of HP:0009527 (Enlarged epiphysis of the proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Elevated circulating aldolase concentration\n", + " definition of HP:0012544 (Elevated circulating aldolase concentration)\n", + " \n", + " \n", + " Concentration of fructose 1,6-bisphosphate aldolase in the blood circulation above the upper limit of normal.\n", + " definition of HP:0012544 (Elevated circulating aldolase concentration)\n", + " \n", + " \n", + " #Elevated aldolase level\n", + " definition of HP:0012544 (Elevated circulating aldolase concentration)\n", + " \n", + " \n", + " Bifid nail\n", + " definition of HP:0010793 (Bifid nail)\n", + " \n", + " \n", + " A digit with two nails, with at least some soft tissue between them.\n", + " definition of HP:0010793 (Bifid nail)\n", + " \n", + " \n", + " #duplicated nail #Notched nail\n", + " definition of HP:0010793 (Bifid nail)\n", + " \n", + " \n", + " EEG with spike-wave complexes (<2.5 Hz)\n", + " definition of HP:0010847 (EEG with spike-wave complexes (<2.5 Hz))\n", + " \n", + " \n", + " The presence of complexes of slow spikes and slow waves (<2.5 Hz) in electroencephalography (EEG).\n", + " definition of HP:0010847 (EEG with spike-wave complexes (<2.5 Hz))\n", + " \n", + " \n", + " #Electroencephalogram demonstrated spike-slow wave discharges\n", + " definition of HP:0010847 (EEG with spike-wave complexes (<2.5 Hz))\n", + " \n", + " \n", + " Rectal arteriovenous malformation\n", + " definition of HP:0031346 (Rectal arteriovenous malformation)\n", + " \n", + " \n", + " An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the rectum.\n", + " definition of HP:0031346 (Rectal arteriovenous malformation)\n", + " \n", + " \n", + " Increased hemoglobin oxygen affinity\n", + " definition of HP:0004825 (Increased hemoglobin oxygen affinity)\n", + " \n", + " \n", + " An abnormal increase in the binding affinity of hemoglobin for oxygen.\n", + " definition of HP:0004825 (Increased hemoglobin oxygen affinity)\n", + " \n", + " \n", + " #Increased haemoglobin O2 affinity #Increased Hb O2 affinity #Increased Hb oxygen affinity #Increased hemoglobin O2 affinity #Increased hemoglobin oxygen affinity\n", + " definition of HP:0004825 (Increased hemoglobin oxygen affinity)\n", + " \n", + " \n", + " Posterior subluxation of radial head\n", + " definition of HP:0005739 (Posterior subluxation of radial head)\n", + " \n", + " \n", + " Partial dislocation of the head of the radius in the posterior direction.\n", + " definition of HP:0005739 (Posterior subluxation of radial head)\n", + " \n", + " \n", + " Polygonal renal calices\n", + " definition of HP:0025359 (Polygonal renal calices)\n", + " \n", + " \n", + " An abnormal polygonal shape of the calices of the kidney (which normally have a rounded or cup-shaped appearance).\n", + " definition of HP:0025359 (Polygonal renal calices)\n", + " \n", + " \n", + " #Polygonal calices #Polygonal-shaped calices\n", + " definition of HP:0025359 (Polygonal renal calices)\n", + " \n", + " \n", + " Dysgenesis of the hippocampus\n", + " definition of HP:0025101 (Dysgenesis of the hippocampus)\n", + " \n", + " \n", + " Structural abnormality of the hippocampus related to defective development.\n", + " definition of HP:0025101 (Dysgenesis of the hippocampus)\n", + " \n", + " \n", + " #Hippocampal dysgenesis\n", + " definition of HP:0025101 (Dysgenesis of the hippocampus)\n", + " \n", + " \n", + " Multinucleated giant chondrocytes in epiphyseal cartilage\n", + " definition of HP:0030330 (Multinucleated giant chondrocytes in epiphyseal cartilage)\n", + " \n", + " \n", + " The presence of cartilage cells (chondrocytes) that are substantially increased in size and contain more than one nucleus and are located within the resting zone of the epiphyseal cartilage.\n", + " definition of HP:0030330 (Multinucleated giant chondrocytes in epiphyseal cartilage)\n", + " \n", + " \n", + " Interphalangeal joint contracture of finger\n", + " definition of HP:0001220 (Interphalangeal joint contracture of finger)\n", + " \n", + " \n", + " Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue.\n", + " definition of HP:0001220 (Interphalangeal joint contracture of finger)\n", + " \n", + " \n", + " #Interphalangeal joint flexion contractures\n", + " definition of HP:0001220 (Interphalangeal joint contracture of finger)\n", + " \n", + " \n", + " Anti-voltage-gated potassium channel antibody positivity\n", + " definition of HP:4000171 (Anti-voltage-gated potassium channel antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against a voltage-gated potassium channel.\n", + " definition of HP:4000171 (Anti-voltage-gated potassium channel antibody positivity)\n", + " \n", + " \n", + " #Voltage gated potassium channel antibodies in blood\n", + " definition of HP:4000171 (Anti-voltage-gated potassium channel antibody positivity)\n", + " \n", + " \n", + " Congenital onset\n", + " definition of HP:0003577 (Congenital onset)\n", + " \n", + " \n", + " A phenotypic abnormality that is present at birth.\n", + " definition of HP:0003577 (Congenital onset)\n", + " \n", + " \n", + " #Onset at birth #Symptoms present at birth\n", + " definition of HP:0003577 (Congenital onset)\n", + " \n", + " \n", + " Typically de novo\n", + " definition of HP:0025352 (Typically de novo)\n", + " \n", + " \n", + " Description of conditions that are exclusively or predominantly observed to display de novo variants. In some cases, this may be due to the limited reproductive fitness of affected individuals.\n", + " definition of HP:0025352 (Typically de novo)\n", + " \n", + " \n", + " #Autosomal dominant germline de novo mutation\n", + " definition of HP:0025352 (Typically de novo)\n", + " \n", + " \n", + " Reduced coagulation factor V activity\n", + " definition of HP:0003225 (Reduced coagulation factor V activity)\n", + " \n", + " \n", + " Decreased activity of coagulation factor V.\n", + " definition of HP:0003225 (Reduced coagulation factor V activity)\n", + " \n", + " \n", + " #Reduced factor V activity\n", + " definition of HP:0003225 (Reduced coagulation factor V activity)\n", + " \n", + " \n", + " Abnormal morphology of ulna\n", + " definition of HP:0040071 (Abnormal morphology of ulna)\n", + " \n", + " \n", + " Any structural anomaly of the ulna, a bone of the forearm the extends from the elbow to the little finger.\n", + " definition of HP:0040071 (Abnormal morphology of ulna)\n", + " \n", + " \n", + " Abnormal vertebral segmentation and fusion\n", + " definition of HP:0005640 (Abnormal vertebral segmentation and fusion)\n", + " \n", + " \n", + " Anti-lipoprotein lipase autoantibody positivity\n", + " definition of HP:6001060 (Anti-lipoprotein lipase autoantibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against anti-lipoprotein lipase.\n", + " definition of HP:6001060 (Anti-lipoprotein lipase autoantibody positivity)\n", + " \n", + " \n", + " #Anti-LPL autoantibody positivity\n", + " definition of HP:6001060 (Anti-lipoprotein lipase autoantibody positivity)\n", + " \n", + " \n", + " Abnormality of the pulmonary veins\n", + " definition of HP:0011718 (Abnormality of the pulmonary veins)\n", + " \n", + " \n", + " An abnormality of the pulmonary veins.\n", + " definition of HP:0011718 (Abnormality of the pulmonary veins)\n", + " \n", + " \n", + " #Abnormality of lung veins\n", + " definition of HP:0011718 (Abnormality of the pulmonary veins)\n", + " \n", + " \n", + " Retinal coloboma\n", + " definition of HP:0000480 (Retinal coloboma)\n", + " \n", + " \n", + " A notch or cleft of the retina.\n", + " definition of HP:0000480 (Retinal coloboma)\n", + " \n", + " \n", + " #Hole in the back of the eye\n", + " definition of HP:0000480 (Retinal coloboma)\n", + " \n", + " \n", + " Medullary peritubular capillaritis\n", + " definition of HP:0033865 (Medullary peritubular capillaritis)\n", + " \n", + " \n", + " Inflammation of the peritubular capillaries in the medulla of the kidney characterized by Inflammatory cells in over 10 percent of the interstitial capillaries in the cortex with at least some capillaries having three or more luminal cells.\n", + " definition of HP:0033865 (Medullary peritubular capillaritis)\n", + " \n", + " \n", + " Foot monodactyly\n", + " definition of HP:0200054 (Foot monodactyly)\n", + " \n", + " \n", + " Accelerated bone age after puberty\n", + " definition of HP:0002805 (Accelerated bone age after puberty)\n", + " \n", + " \n", + " #Accelerated bone age after puberty\n", + " definition of HP:0002805 (Accelerated bone age after puberty)\n", + " \n", + " \n", + " Reflex tearing\n", + " definition of HP:0031733 (Reflex tearing)\n", + " \n", + " \n", + " A form of watery eye associated with overproduction of tears due to reflex tearing in response to a local irritant (e.g. trichiasis or foreign body), chronic ocular surface disease (e.g. blepharitis) or systemic disease (e.g. thyroid eye disease).\n", + " definition of HP:0031733 (Reflex tearing)\n", + " \n", + " \n", + " Tuberous xanthoma\n", + " definition of HP:0031290 (Tuberous xanthoma)\n", + " \n", + " \n", + " A type of xanthoma characterized by a nodular form. Tuberous xanthomas are firm subcutaneous nodules,whereby the overlying skin can have red or red-yellow color changes.\n", + " definition of HP:0031290 (Tuberous xanthoma)\n", + " \n", + " \n", + " Incomplete male pseudohermaphroditism\n", + " definition of HP:0008656 (Incomplete male pseudohermaphroditism)\n", + " \n", + " \n", + " Cerebral edema\n", + " definition of HP:0002181 (Cerebral edema)\n", + " \n", + " \n", + " Abnormal accumulation of fluid in the brain.\n", + " definition of HP:0002181 (Cerebral edema)\n", + " \n", + " \n", + " #Brain edema #Brain oedema #Cerebral oedema #Swelling of brain\n", + " definition of HP:0002181 (Cerebral edema)\n", + " \n", + " \n", + " Pelvic bone asymmetry\n", + " definition of HP:0010453 (Pelvic bone asymmetry)\n", + " \n", + " \n", + " Pelvic asymmetry refers to asymmetric positioning of landmarks on the two sides of the pelvis and may have a structural or functional etiology.\n", + " definition of HP:0010453 (Pelvic bone asymmetry)\n", + " \n", + " \n", + " #Asymmetric pelvis\n", + " definition of HP:0010453 (Pelvic bone asymmetry)\n", + " \n", + " \n", + " Sagittal craniosynostosis\n", + " definition of HP:0004442 (Sagittal craniosynostosis)\n", + " \n", + " \n", + " A kind of craniosynostosis affecting the sagittal suture.\n", + " definition of HP:0004442 (Sagittal craniosynostosis)\n", + " \n", + " \n", + " #Craniosynostosis, sagittal #Craniosynostosis, sagittal suture #Early closure of midline skull joint #Midline skull joint closes early #Sagittal suture synostosis\n", + " definition of HP:0004442 (Sagittal craniosynostosis)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the 2nd finger\n", + " definition of HP:0006264 (Aplasia/Hypoplasia of the 2nd finger)\n", + " \n", + " \n", + " A small/hypoplastic or absent/aplastic 2nd finger.\n", + " definition of HP:0006264 (Aplasia/Hypoplasia of the 2nd finger)\n", + " \n", + " \n", + " #Absent/small index finger #Absent/underdeveloped index finger\n", + " definition of HP:0006264 (Aplasia/Hypoplasia of the 2nd finger)\n", + " \n", + " \n", + " Positive synonvial fluid infectious agent test\n", + " definition of HP:6000581 (Positive synonvial fluid infectious agent test)\n", + " \n", + " \n", + " Any kind of test for an infectious agent in the synovial fluid (i.e., in a joint) positive.\n", + " definition of HP:6000581 (Positive synonvial fluid infectious agent test)\n", + " \n", + " \n", + " Supraventricular tachycardia with a concealed accessory connection\n", + " definition of HP:0011689 (Supraventricular tachycardia with a concealed accessory connection)\n", + " \n", + " \n", + " Supraventricular tachycardia with an accessory connection mediated pathway that is called concealed because it is not seen on the ECG during sinus rhythm.\n", + " definition of HP:0011689 (Supraventricular tachycardia with a concealed accessory connection)\n", + " \n", + " \n", + " #Supraventricular tachycardia with a concealed accessory connexion\n", + " definition of HP:0011689 (Supraventricular tachycardia with a concealed accessory connection)\n", + " \n", + " \n", + " Irregular epiphyses of the elbow\n", + " definition of HP:0003948 (Irregular epiphyses of the elbow)\n", + " \n", + " \n", + " #Irregular end part of the elbow bone\n", + " definition of HP:0003948 (Irregular epiphyses of the elbow)\n", + " \n", + " \n", + " Urethrocele\n", + " definition of HP:0100821 (Urethrocele)\n", + " \n", + " \n", + " The prolapse of the female urethra into the vagina.\n", + " definition of HP:0100821 (Urethrocele)\n", + " \n", + " \n", + " Elevated residual volume\n", + " definition of HP:0033251 (Elevated residual volume)\n", + " \n", + " \n", + " Increase in the amount of air remaining in a person's lungs after full exhalation.\n", + " definition of HP:0033251 (Elevated residual volume)\n", + " \n", + " \n", + " #Elevated RV\n", + " definition of HP:0033251 (Elevated residual volume)\n", + " \n", + " \n", + " Aspartic aciduria\n", + " definition of HP:0032401 (Aspartic aciduria)\n", + " \n", + " \n", + " A increased concentration of aspartic acid in the urine.\n", + " definition of HP:0032401 (Aspartic aciduria)\n", + " \n", + " \n", + " Choroidal neovascularization\n", + " definition of HP:0011506 (Choroidal neovascularization)\n", + " \n", + " \n", + " Choroidal neovascularization (CNV) is the creation of new blood vessels in the choroid layer of the eye.\n", + " definition of HP:0011506 (Choroidal neovascularization)\n", + " \n", + " \n", + " #Choroidal neovascular membrane\n", + " definition of HP:0011506 (Choroidal neovascularization)\n", + " \n", + " \n", + " Pulmonary hemorrhage\n", + " definition of HP:0040223 (Pulmonary hemorrhage)\n", + " \n", + " \n", + " Pulmonary hemorrhage is a bleeding within the lungs. Older children and adults may spit blood or bloody sputum. Neonates, infants and young children usually do not spit up blood. Anemia, pulmonary infiltrates, increasingling bloody return on BAL and the presence of hemosiderin-laden macrophages in broncho-alveolar lavage (BAL) fluid or lung biopsy can diagnose lung bleeding. Alveolar macrophages contain phagocytosed red blood cells and stain positive for hemosiderin, a product of hemoglobin degradation, after about 48-72 hours following pulmonary hemorraghe. Previous or recurrent bleeding can thus be distinguished from fresh events. A differentiation into local or diffuse is of importance. Also differentiate if pulmonary hemorrhage is due to a primary lung disorder or a manifestation of a systemic disease.\n", + " definition of HP:0040223 (Pulmonary hemorrhage)\n", + " \n", + " \n", + " #Intrapulmonary haemorrhage #Intrapulmonary hemorrhage #Pulmonary haemorrhage\n", + " definition of HP:0040223 (Pulmonary hemorrhage)\n", + " \n", + " \n", + " Abnormality of the epiphysis of the distal phalanx of the 3rd finger\n", + " definition of HP:0009332 (Abnormality of the epiphysis of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Abnormality of the end part of the outermost bone of the middle finger\n", + " definition of HP:0009332 (Abnormality of the epiphysis of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Interosseus muscle atrophy\n", + " definition of HP:0007181 (Interosseus muscle atrophy)\n", + " \n", + " \n", + " Atrophy of the interosseus muscles (including the palmar interossei that lie on the anterior aspect of the metacarpals, the dorsal interosseus muscles of the hand, which lie between the intercarpals, the plantar interosseus muscles, which lie underneath the metatarsal bones, and the dorsal interossei, which are located between the metatarsal bones.\n", + " definition of HP:0007181 (Interosseus muscle atrophy)\n", + " \n", + " \n", + " #Interosseous muscular atrophy\n", + " definition of HP:0007181 (Interosseus muscle atrophy)\n", + " \n", + " \n", + " Aplasia of the proximal phalanx of the 4th toe\n", + " definition of HP:0100385 (Aplasia of the proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " #Absent innermost bone of the 4th toe\n", + " definition of HP:0100385 (Aplasia of the proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " Elbow ankylosis\n", + " definition of HP:0003070 (Elbow ankylosis)\n", + " \n", + " \n", + " Increased rate of premature chromosome condensation\n", + " definition of HP:0003451 (Increased rate of premature chromosome condensation)\n", + " \n", + " \n", + " An increased rate of premature chromosome condensation.\n", + " definition of HP:0003451 (Increased rate of premature chromosome condensation)\n", + " \n", + " \n", + " Abnormality of mucopolysaccharide metabolism\n", + " definition of HP:0011020 (Abnormality of mucopolysaccharide metabolism)\n", + " \n", + " \n", + " An abnormality of the metabolism of mucopolysaccharide.\n", + " definition of HP:0011020 (Abnormality of mucopolysaccharide metabolism)\n", + " \n", + " \n", + " Abnormal circulating thromboxane concentration\n", + " definition of HP:0030389 (Abnormal circulating thromboxane concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration in the blood circulation of a thromboxane. Thromboxanes are derived from prostaglandin precursors in platelets, and stimulate aggregation of platelets and constriction of blood vessels.\n", + " definition of HP:0030389 (Abnormal circulating thromboxane concentration)\n", + " \n", + " \n", + " Hypertensive retinopathy\n", + " definition of HP:0001095 (Hypertensive retinopathy)\n", + " \n", + " \n", + " Low neutrophil alkaline phosphatase\n", + " definition of HP:0041044 (Low neutrophil alkaline phosphatase)\n", + " \n", + " \n", + " An abnormally reduced level of alkaline phosphatase in neutrophils, which could be due to absence of enzyme or the production of defective enzyme.\n", + " definition of HP:0041044 (Low neutrophil alkaline phosphatase)\n", + " \n", + " \n", + " Agenesis of first permanent molar tooth\n", + " definition of HP:0011056 (Agenesis of first permanent molar tooth)\n", + " \n", + " \n", + " Agenesis of either maxillary first permanent molar or mandibular first permanent molar or both.\n", + " definition of HP:0011056 (Agenesis of first permanent molar tooth)\n", + " \n", + " \n", + " #Agenesis of six year molar #Failure of development of first permanent molar #Failure of development of six year molar\n", + " definition of HP:0011056 (Agenesis of first permanent molar tooth)\n", + " \n", + " \n", + " Absent stapes\n", + " definition of HP:0011456 (Absent stapes)\n", + " \n", + " \n", + " Aplasia of the stapes.\n", + " definition of HP:0011456 (Absent stapes)\n", + " \n", + " \n", + " Hypoplasia of the fallopian tube\n", + " definition of HP:0008697 (Hypoplasia of the fallopian tube)\n", + " \n", + " \n", + " Developmental hypoplasia of the fallopian tube.\n", + " definition of HP:0008697 (Hypoplasia of the fallopian tube)\n", + " \n", + " \n", + " #Rudimentary fallopian tubes #Underdeveloped fallopian tube\n", + " definition of HP:0008697 (Hypoplasia of the fallopian tube)\n", + " \n", + " \n", + " Lacunar halos around chondrocytes\n", + " definition of HP:0032930 (Lacunar halos around chondrocytes)\n", + " \n", + " \n", + " Concentric rings around the chondrocytes.\n", + " definition of HP:0032930 (Lacunar halos around chondrocytes)\n", + " \n", + " \n", + " CNS vasculitis with reactivation of varicella-zoster virus\n", + " definition of HP:0034319 (CNS vasculitis with reactivation of varicella-zoster virus)\n", + " \n", + " \n", + " A vasculopathy in the central nervous system (CNS) following reactivation of varicella-zoster virus due to a productive viral infection of both large and small cerebral arteries.\n", + " definition of HP:0034319 (CNS vasculitis with reactivation of varicella-zoster virus)\n", + " \n", + " \n", + " Abnormal circulating citrulline concentration\n", + " definition of HP:0011965 (Abnormal circulating citrulline concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of citrulline in the blood circulation.\n", + " definition of HP:0011965 (Abnormal circulating citrulline concentration)\n", + " \n", + " \n", + " Aspiration\n", + " definition of HP:0002835 (Aspiration)\n", + " \n", + " \n", + " Inspiration of a foreign object into the airway.\n", + " definition of HP:0002835 (Aspiration)\n", + " \n", + " \n", + " Elevated CSF 5-hydroxymethyluracil concentration\n", + " definition of HP:6000208 (Elevated CSF 5-hydroxymethyluracil concentration)\n", + " \n", + " \n", + " The concentration of 5-hydroxymethyluracil in the cerebrospinal fluid (CSF) is above the upper limit of normal.\n", + " definition of HP:6000208 (Elevated CSF 5-hydroxymethyluracil concentration)\n", + " \n", + " \n", + " #5-hydroxymethyluracil high in CSF\n", + " definition of HP:6000208 (Elevated CSF 5-hydroxymethyluracil concentration)\n", + " \n", + " \n", + " Macroscopic hematuria\n", + " definition of HP:0012587 (Macroscopic hematuria)\n", + " \n", + " \n", + " Hematuria that is visible upon inspection of the urine.\n", + " definition of HP:0012587 (Macroscopic hematuria)\n", + " \n", + " \n", + " #Bloody urine #Gross hematuria\n", + " definition of HP:0012587 (Macroscopic hematuria)\n", + " \n", + " \n", + " Abnormal rib morphology\n", + " definition of HP:0000772 (Abnormal rib morphology)\n", + " \n", + " \n", + " An anomaly of the rib.\n", + " definition of HP:0000772 (Abnormal rib morphology)\n", + " \n", + " \n", + " #Abnormality of the ribs #Rib abnormalities #Rib anomalies\n", + " definition of HP:0000772 (Abnormal rib morphology)\n", + " \n", + " \n", + " Cervical spina bifida\n", + " definition of HP:0005857 (Cervical spina bifida)\n", + " \n", + " \n", + " Ivory epiphysis of the proximal phalanx of the thumb\n", + " definition of HP:0009670 (Ivory epiphysis of the proximal phalanx of the thumb)\n", + " \n", + " \n", + " Sclerosis of the epiphysis of the proximal phalanx of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.\n", + " definition of HP:0009670 (Ivory epiphysis of the proximal phalanx of the thumb)\n", + " \n", + " \n", + " #Increased bone density of end part of the innermost bone of the thumb\n", + " definition of HP:0009670 (Ivory epiphysis of the proximal phalanx of the thumb)\n", + " \n", + " \n", + " Demonstration of acid-fast bacilli in wound tissue\n", + " definition of HP:6000963 (Demonstration of acid-fast bacilli in wound tissue)\n", + " \n", + " \n", + " Demonstration of acid-fast bacilli by microscopic examination of wound tissue. Acid fastness is a physical property that gives a bacterium the ability to resist decolorization by acids during staining procedures.\n", + " definition of HP:6000963 (Demonstration of acid-fast bacilli in wound tissue)\n", + " \n", + " \n", + " Deficient excision of UV-induced pyrimidine dimers in DNA\n", + " definition of HP:0003213 (Deficient excision of UV-induced pyrimidine dimers in DNA)\n", + " \n", + " \n", + " Esophageal furrows\n", + " definition of HP:0031858 (Esophageal furrows)\n", + " \n", + " \n", + " Longitudinal grooves in the surface of the esophagus arranged in a longitudinal fashion (from top to bottom of the esophagus).\n", + " definition of HP:0031858 (Esophageal furrows)\n", + " \n", + " \n", + " Agenesis of mandibular central incisor\n", + " definition of HP:0006355 (Agenesis of mandibular central incisor)\n", + " \n", + " \n", + " Agenesis of lower secondary incisor or lower primary incisor.\n", + " definition of HP:0006355 (Agenesis of mandibular central incisor)\n", + " \n", + " \n", + " #Failure of development of mandibular central incisor\n", + " definition of HP:0006355 (Agenesis of mandibular central incisor)\n", + " \n", + " \n", + " Abnormal circulating complement factor H related protein 1 concentration\n", + " definition of HP:0033298 (Abnormal circulating complement factor H related protein 1 concentration)\n", + " \n", + " \n", + " A deviation from the normal concentration in blood of factor H-related protein 1 (FHR-1)\n", + " definition of HP:0033298 (Abnormal circulating complement factor H related protein 1 concentration)\n", + " \n", + " \n", + " Decreased serum creatinine\n", + " definition of HP:0012101 (Decreased serum creatinine)\n", + " \n", + " \n", + " An abnormally reduced amount of creatinine in the blood.\n", + " definition of HP:0012101 (Decreased serum creatinine)\n", + " \n", + " \n", + " #Decreased serum creatinine #Low blood creatinine level #Reduced creatinine levels\n", + " definition of HP:0012101 (Decreased serum creatinine)\n", + " \n", + " \n", + " Increased body mass index\n", + " definition of HP:0031418 (Increased body mass index)\n", + " \n", + " \n", + " Abnormally increased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of overweight compared to averages.\n", + " definition of HP:0031418 (Increased body mass index)\n", + " \n", + " \n", + " #Increased BMI\n", + " definition of HP:0031418 (Increased body mass index)\n", + " \n", + " \n", + " Abnormal facility in opposing the shoulders\n", + " definition of HP:0005259 (Abnormal facility in opposing the shoulders)\n", + " \n", + " \n", + " Increased range of shoulder movement related to aplasia or hypoplasia of the clavicles that results in the ability to approximate the shoulders in front of the chest.\n", + " definition of HP:0005259 (Abnormal facility in opposing the shoulders)\n", + " \n", + " \n", + " Acromelia of the lower limbs\n", + " definition of HP:0010494 (Acromelia of the lower limbs)\n", + " \n", + " \n", + " Shortening of the legs predominantly affecting terminal parts of the leg in relation to the upper and middle arm segments.\n", + " definition of HP:0010494 (Acromelia of the lower limbs)\n", + " \n", + " \n", + " Upper limb phocomelia\n", + " definition of HP:0009813 (Upper limb phocomelia)\n", + " \n", + " \n", + " Missing or malformed long bones of the upper limbs with the distal parts (the hands) connected to the variably shortened or even absent upper extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the whole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia).\n", + " definition of HP:0009813 (Upper limb phocomelia)\n", + " \n", + " \n", + " Nonproductive cough\n", + " definition of HP:0031246 (Nonproductive cough)\n", + " \n", + " \n", + " A cough that does not produce phlegm or mucus.\n", + " definition of HP:0031246 (Nonproductive cough)\n", + " \n", + " \n", + " #Dry cough #Dry coughing\n", + " definition of HP:0031246 (Nonproductive cough)\n", + " \n", + " \n", + " Delayed toe phalanx ossification\n", + " definition of HP:6000952 (Delayed toe phalanx ossification)\n", + " \n", + " \n", + " Delayed maturation and calcification of any of the toe phalanges.\n", + " definition of HP:6000952 (Delayed toe phalanx ossification)\n", + " \n", + " \n", + " Full-thickness macular hole\n", + " definition of HP:0031152 (Full-thickness macular hole)\n", + " \n", + " \n", + " Full-thickness macular hole (FTMH) is defined as a foveal lesion with interruption of all retinal layers from the internal limiting membrane to the retinal pigment epithelium. Full-thickness macular hole is primary if caused by vitreous traction or secondary if directly the result of pathologic characteristics other than vitreomacular traction. Full-thickness macular hole is subclassified by size of the hole as determined by OCT and the presence or absence of vitreomacular traction.\n", + " definition of HP:0031152 (Full-thickness macular hole)\n", + " \n", + " \n", + " #FTMH\n", + " definition of HP:0031152 (Full-thickness macular hole)\n", + " \n", + " \n", + " Hyperbilirubinemia\n", + " definition of HP:0002904 (Hyperbilirubinemia)\n", + " \n", + " \n", + " An increased amount of bilirubin in the blood.\n", + " definition of HP:0002904 (Hyperbilirubinemia)\n", + " \n", + " \n", + " #High blood bilirubin levels\n", + " definition of HP:0002904 (Hyperbilirubinemia)\n", + " \n", + " \n", + " Abnormal femoral metaphysis morphology\n", + " definition of HP:0006489 (Abnormal femoral metaphysis morphology)\n", + " \n", + " \n", + " An anomaly of the femoral metaphysis.\n", + " definition of HP:0006489 (Abnormal femoral metaphysis morphology)\n", + " \n", + " \n", + " #Abnormality of the femoral metaphysis\n", + " definition of HP:0006489 (Abnormal femoral metaphysis morphology)\n", + " \n", + " \n", + " Perihepatic adhesions\n", + " definition of HP:0034477 (Perihepatic adhesions)\n", + " \n", + " \n", + " Abnormal union of the membranous surfaces of the liver capsule and the parietal peritoneum due to inflammation or injury. Adhesions may be visualized by laparoscopy and may have a violin string appearance.\n", + " definition of HP:0034477 (Perihepatic adhesions)\n", + " \n", + " \n", + " #Peri-hepatic adhesions\n", + " definition of HP:0034477 (Perihepatic adhesions)\n", + " \n", + " \n", + " Reduced alpha/beta synthesis ratio\n", + " definition of HP:0011907 (Reduced alpha/beta synthesis ratio)\n", + " \n", + " \n", + " A reduction in the ratio of production of alpha globin to that of beta globin. This is the major abnormality in the various forms of alpha thalassemia.\n", + " definition of HP:0011907 (Reduced alpha/beta synthesis ratio)\n", + " \n", + " \n", + " Fetal pericardial effusion\n", + " definition of HP:0025671 (Fetal pericardial effusion)\n", + " \n", + " \n", + " An abnormal accumulation of fluid in which the heart is partially or completely surrounded by fluid that is seen in all views and the thickness of the fluid as observed by prenatal ultrasound is above age-dependent norms.\n", + " definition of HP:0025671 (Fetal pericardial effusion)\n", + " \n", + " \n", + " Intracranial calcification\n", + " definition of HP:0430048 (Intracranial calcification)\n", + " \n", + " \n", + " Intracranial calcifications refer to calcifications within the brain parenchyma or vasculature. The five major components of the brain comprise the cerebrum, cerebellum, brain stem, pituitary gland, and hypothalamus.\n", + " definition of HP:0430048 (Intracranial calcification)\n", + " \n", + " \n", + " #Intracranial calcifications\n", + " definition of HP:0430048 (Intracranial calcification)\n", + " \n", + " \n", + " Apical hypertrophic cardiomyopathy\n", + " definition of HP:0031992 (Apical hypertrophic cardiomyopathy)\n", + " \n", + " \n", + " Apical hypertrophic cardiomyopathy (AHCM) is diastolic dysfunction due to abnormal stiffness of the left ventricle during diastole, with resultant impaired ventricular filling. In AHCM thickened apical segments produce a crowded, spade-shaped, small apical cavity.\n", + " definition of HP:0031992 (Apical hypertrophic cardiomyopathy)\n", + " \n", + " \n", + " Monilethrix\n", + " definition of HP:0032470 (Monilethrix)\n", + " \n", + " \n", + " The hair shaft has a beaded appearance due to the presence of elliptical nodes that have the diameter of normal hair and are medullated, regularly separated by internodes that are narrow, devoid of medulla and are the site of fracture.\n", + " definition of HP:0032470 (Monilethrix)\n", + " \n", + " \n", + " Horizontal jerk nystagmus\n", + " definition of HP:0007286 (Horizontal jerk nystagmus)\n", + " \n", + " \n", + " Nystagmus consisting of horizontal to-and-fro eye movements, in which the movement in one direction is faster than in the other.\n", + " definition of HP:0007286 (Horizontal jerk nystagmus)\n", + " \n", + " \n", + " Corneal opacity\n", + " definition of HP:0007957 (Corneal opacity)\n", + " \n", + " \n", + " A reduction of corneal clarity.\n", + " definition of HP:0007957 (Corneal opacity)\n", + " \n", + " \n", + " #Corneal clouding #Corneal opacities #Reduction of corneal clarity #Scarring or clouding of the cornea of the eye\n", + " definition of HP:0007957 (Corneal opacity)\n", + " \n", + " \n", + " Premature ovarian insufficiency\n", + " definition of HP:0008209 (Premature ovarian insufficiency)\n", + " \n", + " \n", + " Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian inssuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea.\n", + " definition of HP:0008209 (Premature ovarian insufficiency)\n", + " \n", + " \n", + " #Climacterium praecox #Early menopause #Hypergonadotropic amenorrhea #Menopause praecox #Premature menopause #Premature ovarian failure #Primary ovarian insufficiency\n", + " definition of HP:0008209 (Premature ovarian insufficiency)\n", + " \n", + " \n", + " Telecanthus\n", + " definition of HP:0000506 (Telecanthus)\n", + " \n", + " \n", + " Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.\n", + " definition of HP:0000506 (Telecanthus)\n", + " \n", + " \n", + " #Corners of eye widely separated #Dystopia canthorum #Increased distance between medial canthi #Increased intercanthal distance\n", + " definition of HP:0000506 (Telecanthus)\n", + " \n", + " \n", + " Onycholysis of fingernails\n", + " definition of HP:0040039 (Onycholysis of fingernails)\n", + " \n", + " \n", + " #Detachment of fingernails #Onycholysis of fingernail\n", + " definition of HP:0040039 (Onycholysis of fingernails)\n", + " \n", + " \n", + " Hip contracture\n", + " definition of HP:0003273 (Hip contracture)\n", + " \n", + " \n", + " Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the hip joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.\n", + " definition of HP:0003273 (Hip contracture)\n", + " \n", + " \n", + " #Flexion contracture of hips #Flexion contractures of hips #Hip contractures #Hip flexion contractures\n", + " definition of HP:0003273 (Hip contracture)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the musculature of the pelvis\n", + " definition of HP:0001471 (Aplasia/Hypoplasia of the musculature of the pelvis)\n", + " \n", + " \n", + " #Absent/small pelvis muscles #Absent/underdeveloped pelvis muscles\n", + " definition of HP:0001471 (Aplasia/Hypoplasia of the musculature of the pelvis)\n", + " \n", + " \n", + " Abnormality of the falx cerebri\n", + " definition of HP:0010653 (Abnormality of the falx cerebri)\n", + " \n", + " \n", + " An abnormality of the Falx cerebri.\n", + " definition of HP:0010653 (Abnormality of the falx cerebri)\n", + " \n", + " \n", + " #Abnormality of the cerebral falx\n", + " definition of HP:0010653 (Abnormality of the falx cerebri)\n", + " \n", + " \n", + " Adrenal gland dysgenesis\n", + " definition of HP:0008216 (Adrenal gland dysgenesis)\n", + " \n", + " \n", + " Abnormal development of the adrenal gland.\n", + " definition of HP:0008216 (Adrenal gland dysgenesis)\n", + " \n", + " \n", + " #Adrenal gland dysplasia #Dysplastic adrenal glands\n", + " definition of HP:0008216 (Adrenal gland dysgenesis)\n", + " \n", + " \n", + " Myotonia of the lower limb\n", + " definition of HP:0012902 (Myotonia of the lower limb)\n", + " \n", + " \n", + " Slowed relaxation of muscles in the leg.\n", + " definition of HP:0012902 (Myotonia of the lower limb)\n", + " \n", + " \n", + " Gaze avoidance\n", + " definition of HP:0034436 (Gaze avoidance)\n", + " \n", + " \n", + " A deliberate avoidance of eye contact.\n", + " definition of HP:0034436 (Gaze avoidance)\n", + " \n", + " \n", + " #Gaze aversion\n", + " definition of HP:0034436 (Gaze avoidance)\n", + " \n", + " \n", + " Hypermagnesiuria\n", + " definition of HP:0012608 (Hypermagnesiuria)\n", + " \n", + " \n", + " An increased concentration of magnesium the urine.\n", + " definition of HP:0012608 (Hypermagnesiuria)\n", + " \n", + " \n", + " IgA deposition in the glomerulus\n", + " definition of HP:0000794 (IgA deposition in the glomerulus)\n", + " \n", + " \n", + " The presence of immunoglobulin A deposits in the glomerulus.\n", + " definition of HP:0000794 (IgA deposition in the glomerulus)\n", + " \n", + " \n", + " Increased length of the tibia\n", + " definition of HP:0010504 (Increased length of the tibia)\n", + " \n", + " \n", + " An abnormal increase in the length of the tibia.\n", + " definition of HP:0010504 (Increased length of the tibia)\n", + " \n", + " \n", + " #Increased length of shankbone #Increased length of shinbone\n", + " definition of HP:0010504 (Increased length of the tibia)\n", + " \n", + " \n", + " Unilateral chest hypoplasia\n", + " definition of HP:0005254 (Unilateral chest hypoplasia)\n", + " \n", + " \n", + " #Small chest on one side #Underdeveloped chest on one side\n", + " definition of HP:0005254 (Unilateral chest hypoplasia)\n", + " \n", + " \n", + " Spina bifida occulta at S1\n", + " definition of HP:0004614 (Spina bifida occulta at S1)\n", + " \n", + " \n", + " The closed form of spina bifida with incomplete closure of S1 with intact overlying skin.\n", + " definition of HP:0004614 (Spina bifida occulta at S1)\n", + " \n", + " \n", + " Abnormal common carotid artery morphology\n", + " definition of HP:0430021 (Abnormal common carotid artery morphology)\n", + " \n", + " \n", + " An abnormality of the common carotid arteries, which provide the arterial supply to the head and neck and give rise to the internal carotid artery and the external carotid artery.\n", + " definition of HP:0430021 (Abnormal common carotid artery morphology)\n", + " \n", + " \n", + " #Abnormality of the common carotid artery\n", + " definition of HP:0430021 (Abnormal common carotid artery morphology)\n", + " \n", + " \n", + " Abnormal phosphoribosylpyrophosphate synthetase level\n", + " definition of HP:0032459 (Abnormal phosphoribosylpyrophosphate synthetase level)\n", + " \n", + " \n", + " Any deviation from the normal level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate.\n", + " definition of HP:0032459 (Abnormal phosphoribosylpyrophosphate synthetase level)\n", + " \n", + " \n", + " Torsade de pointes\n", + " definition of HP:0001664 (Torsade de pointes)\n", + " \n", + " \n", + " A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG.\n", + " definition of HP:0001664 (Torsade de pointes)\n", + " \n", + " \n", + " #Torsades de pointes\n", + " definition of HP:0001664 (Torsade de pointes)\n", + " \n", + " \n", + " Hypointensity of cerebral white matter on MRI\n", + " definition of HP:0007103 (Hypointensity of cerebral white matter on MRI)\n", + " \n", + " \n", + " A darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter.\n", + " definition of HP:0007103 (Hypointensity of cerebral white matter on MRI)\n", + " \n", + " \n", + " #White matter hypointensities on MRI\n", + " definition of HP:0007103 (Hypointensity of cerebral white matter on MRI)\n", + " \n", + " \n", + " Hypoplastic pubic ramus\n", + " definition of HP:0008830 (Hypoplastic pubic ramus)\n", + " \n", + " \n", + " Underdevelopment of a ramus (branch) of the pubic bone.\n", + " definition of HP:0008830 (Hypoplastic pubic ramus)\n", + " \n", + " \n", + " #Hypoplastic pubic rami\n", + " definition of HP:0008830 (Hypoplastic pubic ramus)\n", + " \n", + " \n", + " Subarterial ventricular septal defect\n", + " definition of HP:0011681 (Subarterial ventricular septal defect)\n", + " \n", + " \n", + " A ventricular septal defect that lies beneath the semilunar valve(s) in the conal or outlet septum.\n", + " definition of HP:0011681 (Subarterial ventricular septal defect)\n", + " \n", + " \n", + " #Conal ventricular septal defect #Doubly committed ventricular septal defect #Infundibular ventricular septal defect #Supracristal ventricular septal defect #Type 1 ventricular septal defect\n", + " definition of HP:0011681 (Subarterial ventricular septal defect)\n", + " \n", + " \n", + " EEG with photoparoxysmal response\n", + " definition of HP:0010852 (EEG with photoparoxysmal response)\n", + " \n", + " \n", + " EEG abnormalities (epileptiform discharges) evoked by flashing lights or black and white striped patterns.\n", + " definition of HP:0010852 (EEG with photoparoxysmal response)\n", + " \n", + " \n", + " #Photoparoxysmal response on EEG\n", + " definition of HP:0010852 (EEG with photoparoxysmal response)\n", + " \n", + " \n", + " Ivory epiphyses of the 5th finger\n", + " definition of HP:0009388 (Ivory epiphyses of the 5th finger)\n", + " \n", + " \n", + " Sclerosis of the epiphyses of the 5th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.\n", + " definition of HP:0009388 (Ivory epiphyses of the 5th finger)\n", + " \n", + " \n", + " #Increased bone density of end part of the little finger #Increased bone density of end part of the pinkie finger #Increased bone density of end part of the pinky finger\n", + " definition of HP:0009388 (Ivory epiphyses of the 5th finger)\n", + " \n", + " \n", + " Gastric neurofibroma\n", + " definition of HP:0034764 (Gastric neurofibroma)\n", + " \n", + " \n", + " A neurofibroma (benign peripheral nerve sheath tumor) localized in the stomach.\n", + " definition of HP:0034764 (Gastric neurofibroma)\n", + " \n", + " \n", + " Appendicular hypotonia\n", + " definition of HP:0012389 (Appendicular hypotonia)\n", + " \n", + " \n", + " Muscular hypotonia of one or more limbs.\n", + " definition of HP:0012389 (Appendicular hypotonia)\n", + " \n", + " \n", + " Neutrophilia in absence of infection\n", + " definition of HP:0410258 (Neutrophilia in absence of infection)\n", + " \n", + " \n", + " An increased number of neutrophils circulating in the blood in the absence of an infection. Factors contributing to neutrophilia could include inflammation or congenital disorders.\n", + " definition of HP:0410258 (Neutrophilia in absence of infection)\n", + " \n", + " \n", + " Anti-insulin antibody positivity\n", + " definition of HP:0034062 (Anti-insulin antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against insulin.\n", + " definition of HP:0034062 (Anti-insulin antibody positivity)\n", + " \n", + " \n", + " #IAA positivity #Insulin autoantibodies\n", + " definition of HP:0034062 (Anti-insulin antibody positivity)\n", + " \n", + " \n", + " Abnormal insertion of umbilical cord\n", + " definition of HP:0011418 (Abnormal insertion of umbilical cord)\n", + " \n", + " \n", + " Anomalous location of the insertion of umbilical cord in the placenta. Normally, the insertion is at least two centimers distant from the edge of the placenta.\n", + " definition of HP:0011418 (Abnormal insertion of umbilical cord)\n", + " \n", + " \n", + " Underfolded helix\n", + " definition of HP:0008577 (Underfolded helix)\n", + " \n", + " \n", + " Underdevelopment of the helix that either affects the entire helix, or is localized.\n", + " definition of HP:0008577 (Underfolded helix)\n", + " \n", + " \n", + " #Poorly folded helices\n", + " definition of HP:0008577 (Underfolded helix)\n", + " \n", + " \n", + " Reduced protein C activity\n", + " definition of HP:0005543 (Reduced protein C activity)\n", + " \n", + " \n", + " An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein C. Protein C is activated to protein Ca by thrombin bound to thrombomodulin. Activated protein C degrades factors VIIIa and Va.\n", + " definition of HP:0005543 (Reduced protein C activity)\n", + " \n", + " \n", + " #Protein C deficiency\n", + " definition of HP:0005543 (Reduced protein C activity)\n", + " \n", + " \n", + " Anti-ganglionic acetylcholine receptor antibody positivity\n", + " definition of HP:0025762 (Anti-ganglionic acetylcholine receptor antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against acetylcholine receptors of the ganglionic type.\n", + " definition of HP:0025762 (Anti-ganglionic acetylcholine receptor antibody positivity)\n", + " \n", + " \n", + " Abnormality of urine homeostasis\n", + " definition of HP:0003110 (Abnormality of urine homeostasis)\n", + " \n", + " \n", + " An abnormality of the composition of urine or the levels of its components.\n", + " definition of HP:0003110 (Abnormality of urine homeostasis)\n", + " \n", + " \n", + " #Pee issues #Urine issues\n", + " definition of HP:0003110 (Abnormality of urine homeostasis)\n", + " \n", + " \n", + " Neoplasm of the tracheobronchial system\n", + " definition of HP:0100552 (Neoplasm of the tracheobronchial system)\n", + " \n", + " \n", + " Neck hypertonia\n", + " definition of HP:0031867 (Neck hypertonia)\n", + " \n", + " \n", + " Increased passive stiffness or tightness of the neck musculature.\n", + " definition of HP:0031867 (Neck hypertonia)\n", + " \n", + " \n", + " Anti-Th/To antibody positivity\n", + " definition of HP:0034081 (Anti-Th/To antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Th/To.\n", + " definition of HP:0034081 (Anti-Th/To antibody positivity)\n", + " \n", + " \n", + " Diffuse reticular or finely nodular infiltrations\n", + " definition of HP:0002207 (Diffuse reticular or finely nodular infiltrations)\n", + " \n", + " \n", + " Elevated circulating 3-hydroxybutyryl-carnitine concentration\n", + " definition of HP:6000237 (Elevated circulating 3-hydroxybutyryl-carnitine concentration)\n", + " \n", + " \n", + " Concentration of 3-hydroxybutyryl-carnitine in the blood circulation above the upper limit of normal.\n", + " definition of HP:6000237 (Elevated circulating 3-hydroxybutyryl-carnitine concentration)\n", + " \n", + " \n", + " Acute respiratory acidosis\n", + " definition of HP:0012467 (Acute respiratory acidosis)\n", + " \n", + " \n", + " Sudden onset of impairment in ventilation such that the removal of carbon dioxide by the respiratory system is less than the production of carbon dioxide in the tissues, leading to an elevation of the partial pressure of carbon dioxide (PaCO2) above the normal limits (more than 45 mm Hg) with an accompanying acidemia (pH less than 7.35).\n", + " definition of HP:0012467 (Acute respiratory acidosis)\n", + " \n", + " \n", + " Hyperuricosuria\n", + " definition of HP:0003149 (Hyperuricosuria)\n", + " \n", + " \n", + " An abnormally high level of uric acid in the urine.\n", + " definition of HP:0003149 (Hyperuricosuria)\n", + " \n", + " \n", + " #High urine uric acid level #Increased urinary urate\n", + " definition of HP:0003149 (Hyperuricosuria)\n", + " \n", + " \n", + " Focal necrosis of right ventricular muscle cells\n", + " definition of HP:0003338 (Focal necrosis of right ventricular muscle cells)\n", + " \n", + " \n", + " Stippling of the epiphysis of the distal phalanx of the 5th finger\n", + " definition of HP:0009165 (Stippling of the epiphysis of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 5th finger.\n", + " definition of HP:0009165 (Stippling of the epiphysis of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " #Speckled calcifications in end part of the outermost bone of little finger #Speckled calcifications in end part of the outermost bone of pinkie finger #Speckled calcifications in end part of the outermost bone of pinky finger\n", + " definition of HP:0009165 (Stippling of the epiphysis of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " Abnormality of somatic nerve plexus\n", + " definition of HP:0410010 (Abnormality of somatic nerve plexus)\n", + " \n", + " \n", + " Any abnormality of the somatic nerve plexus.\n", + " definition of HP:0410010 (Abnormality of somatic nerve plexus)\n", + " \n", + " \n", + " Addictive spending behavior\n", + " definition of HP:5200333 (Addictive spending behavior)\n", + " \n", + " \n", + " An uncontrollable urge to shop and spend money can lead to distress or impairment.\n", + " definition of HP:5200333 (Addictive spending behavior)\n", + " \n", + " \n", + " #Shopaholic #Shopping addiction #Spending addiction\n", + " definition of HP:5200333 (Addictive spending behavior)\n", + " \n", + " \n", + " Carotidynia\n", + " definition of HP:6000944 (Carotidynia)\n", + " \n", + " \n", + " Pain or tenderness in the region of the carotid artery.\n", + " definition of HP:6000944 (Carotidynia)\n", + " \n", + " \n", + " Decreased circulating myo-inositol concentration\n", + " definition of HP:0034610 (Decreased circulating myo-inositol concentration)\n", + " \n", + " \n", + " Concentration of myo-inositol in the blood circulation below the lower limit of normal.\n", + " definition of HP:0034610 (Decreased circulating myo-inositol concentration)\n", + " \n", + " \n", + " #Myoinositol low in blood\n", + " definition of HP:0034610 (Decreased circulating myo-inositol concentration)\n", + " \n", + " \n", + " Triggered by levothyroxin exposure\n", + " definition of HP:0034827 (Triggered by levothyroxin exposure)\n", + " \n", + " \n", + " Applies to a sign or symptom that is provoked or brought about by administration of levothyroxin (thyroid hormone).\n", + " definition of HP:0034827 (Triggered by levothyroxin exposure)\n", + " \n", + " \n", + " Complete duplication of the distal phalanx of the 3rd toe\n", + " definition of HP:0100407 (Complete duplication of the distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Complete duplication of distal phalanx of third toe.\n", + " definition of HP:0100407 (Complete duplication of the distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Complete duplication of the distal phalanx of the third toe #Complete duplication of the outermost bone of the 3rd toe\n", + " definition of HP:0100407 (Complete duplication of the distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Abnormality of digestive system physiology\n", + " definition of HP:0025032 (Abnormality of digestive system physiology)\n", + " \n", + " \n", + " A functional anomaly of the digestive system.\n", + " definition of HP:0025032 (Abnormality of digestive system physiology)\n", + " \n", + " \n", + " Focal impaired awareness sensory seizure with olfactory features\n", + " definition of HP:0032804 (Focal impaired awareness sensory seizure with olfactory features)\n", + " \n", + " \n", + " A focal sensory seizure with olfaction in which awareness is partially or fully impaired at some point during the seizure.\n", + " definition of HP:0032804 (Focal impaired awareness sensory seizure with olfactory features)\n", + " \n", + " \n", + " Elevated urinary N-tau-ribosylhistidine level\n", + " definition of HP:6000621 (Elevated urinary N-tau-ribosylhistidine level)\n", + " \n", + " \n", + " Presence of N tau-ribosylhistidine (His-R) in the urine. His-R is a histidine derivative found in the urine of histidinemic patients.\n", + " definition of HP:6000621 (Elevated urinary N-tau-ribosylhistidine level)\n", + " \n", + " \n", + " #Elevated urinary N-ribosylhistidine level\n", + " definition of HP:6000621 (Elevated urinary N-tau-ribosylhistidine level)\n", + " \n", + " \n", + " Symphalangism of middle phalanx of finger\n", + " definition of HP:0009849 (Symphalangism of middle phalanx of finger)\n", + " \n", + " \n", + " Fusion of a middle phalanx of a finger with another bone.\n", + " definition of HP:0009849 (Symphalangism of middle phalanx of finger)\n", + " \n", + " \n", + " #Fused middle finger bone\n", + " definition of HP:0009849 (Symphalangism of middle phalanx of finger)\n", + " \n", + " \n", + " Increased proportion of effector memory CD8-positive, alpha-beta T cells\n", + " definition of HP:0410395 (Increased proportion of effector memory CD8-positive, alpha-beta T cells)\n", + " \n", + " \n", + " An increased proportion of effector memory CD8-positive, alpha-beta T cells compared to the total number of T cells in the blood. These cells have the phenotype CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.\n", + " definition of HP:0410395 (Increased proportion of effector memory CD8-positive, alpha-beta T cells)\n", + " \n", + " \n", + " History of gastric bypass surgery\n", + " definition of HP:6000179 (History of gastric bypass surgery)\n", + " \n", + " \n", + " History of having received gastric bypass surgery. This is a procedure that reduces the functional volume of the stomach and is used to treat morbid obesity.\n", + " definition of HP:6000179 (History of gastric bypass surgery)\n", + " \n", + " \n", + " Unilateral primary pulmonary dysgenesis\n", + " definition of HP:0006549 (Unilateral primary pulmonary dysgenesis)\n", + " \n", + " \n", + " #Primary pulmonary dysgenesis, unilateral\n", + " definition of HP:0006549 (Unilateral primary pulmonary dysgenesis)\n", + " \n", + " \n", + " Persistent open anterior fontanelle\n", + " definition of HP:0004474 (Persistent open anterior fontanelle)\n", + " \n", + " \n", + " The anterior fontanelle generally ossifies by around the 18th month of life. A persistent open anterior fontanelle is diagnosed if closure is delayed beyond this age.\n", + " definition of HP:0004474 (Persistent open anterior fontanelle)\n", + " \n", + " \n", + " #Front fontanelle stays open #Persistent, open anterior fontanel\n", + " definition of HP:0004474 (Persistent open anterior fontanelle)\n", + " \n", + " \n", + " Toe pain\n", + " definition of HP:0030841 (Toe pain)\n", + " \n", + " \n", + " An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the toe.\n", + " definition of HP:0030841 (Toe pain)\n", + " \n", + " \n", + " #Toe pain\n", + " definition of HP:0030841 (Toe pain)\n", + " \n", + " \n", + " Abnormal curvature of the vertebral column\n", + " definition of HP:0010674 (Abnormal curvature of the vertebral column)\n", + " \n", + " \n", + " The presence of an abnormal curvature of the vertebral column.\n", + " definition of HP:0010674 (Abnormal curvature of the vertebral column)\n", + " \n", + " \n", + " #Abnormal curve of the backbone #Abnormal curve of the spine #Abnormal curving of the spine #Abnormality of the curvature of the vertebral column #Curvature of spine #Curved spine\n", + " definition of HP:0010674 (Abnormal curvature of the vertebral column)\n", + " \n", + " \n", + " Positive Vibrio cholerae stool culture\n", + " definition of HP:6000904 (Positive Vibrio cholerae stool culture)\n", + " \n", + " \n", + " Growth of Vibrio cholerae in a culture derived from a feces sample.\n", + " definition of HP:6000904 (Positive Vibrio cholerae stool culture)\n", + " \n", + " \n", + " #Positive Vibrio cholerae fecal culture\n", + " definition of HP:6000904 (Positive Vibrio cholerae stool culture)\n", + " \n", + " \n", + " Increased glucose-6-phosphate dehydrogenase level in dried blood spot\n", + " definition of HP:0410181 (Increased glucose-6-phosphate dehydrogenase level in dried blood spot)\n", + " \n", + " \n", + " An increase in the level of glucose-6-phosphate dehydrogenase in a dried blood spot.\n", + " definition of HP:0410181 (Increased glucose-6-phosphate dehydrogenase level in dried blood spot)\n", + " \n", + " \n", + " #Increased G6PD level in dried blood spot #Increased glucose-6-phosphate dehydrogenase level in DBS\n", + " definition of HP:0410181 (Increased glucose-6-phosphate dehydrogenase level in dried blood spot)\n", + " \n", + " \n", + " Ankyloglossia\n", + " definition of HP:0010296 (Ankyloglossia)\n", + " \n", + " \n", + " Short or anteriorly attached lingual frenulum, associated with limited mobility of the tongue.\n", + " definition of HP:0010296 (Ankyloglossia)\n", + " \n", + " \n", + " #Tongue tied\n", + " definition of HP:0010296 (Ankyloglossia)\n", + " \n", + " \n", + " Positive bloodstream nucleic acid pathogen test\n", + " definition of HP:0430067 (Positive bloodstream nucleic acid pathogen test)\n", + " \n", + " \n", + " Positive (abnormal) result of a test such as polymerase chain reaction that is targeted against a nucleic acid sequence specific for a pathogen.\n", + " definition of HP:0430067 (Positive bloodstream nucleic acid pathogen test)\n", + " \n", + " \n", + " Gait instability, worse in the dark\n", + " definition of HP:0006962 (Gait instability, worse in the dark)\n", + " \n", + " \n", + " #Unstable walking, worse in the dark\n", + " definition of HP:0006962 (Gait instability, worse in the dark)\n", + " \n", + " \n", + " Stuttering\n", + " definition of HP:0025268 (Stuttering)\n", + " \n", + " \n", + " Disruptions in the production of speech sounds, with involuntary repetitions of words or parts of words, prolongations of speech sounds, or complete blockage of speech production for several seconds.\n", + " definition of HP:0025268 (Stuttering)\n", + " \n", + " \n", + " #Stammering #Stuttering\n", + " definition of HP:0025268 (Stuttering)\n", + " \n", + " \n", + " Increased Arden ratio of electrooculogram\n", + " definition of HP:0031155 (Increased Arden ratio of electrooculogram)\n", + " \n", + " \n", + " An abnormal increase in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record.\n", + " definition of HP:0031155 (Increased Arden ratio of electrooculogram)\n", + " \n", + " \n", + " #Increased Arden ratio of EOG\n", + " definition of HP:0031155 (Increased Arden ratio of electrooculogram)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the 4th toe\n", + " definition of HP:0010337 (Aplasia/Hypoplasia of the 4th toe)\n", + " \n", + " \n", + " #Absent/small 4th toe #Absent/underdeveloped 4th toe\n", + " definition of HP:0010337 (Aplasia/Hypoplasia of the 4th toe)\n", + " \n", + " \n", + " Short proximal phalanx of toe\n", + " definition of HP:0011928 (Short proximal phalanx of toe)\n", + " \n", + " \n", + " Developmental hypoplasia (shortening) of proximal phalanx of toe.\n", + " definition of HP:0011928 (Short proximal phalanx of toe)\n", + " \n", + " \n", + " #Short innermost toe bone\n", + " definition of HP:0011928 (Short proximal phalanx of toe)\n", + " \n", + " \n", + " Hypotaurinemia\n", + " definition of HP:0500182 (Hypotaurinemia)\n", + " \n", + " \n", + " A decreased amount of taurine in the blood.\n", + " definition of HP:0500182 (Hypotaurinemia)\n", + " \n", + " \n", + " #Decreased circulating taurine levels #Lower blood levels of taurine #Reduced taurine levels in the blood\n", + " definition of HP:0500182 (Hypotaurinemia)\n", + " \n", + " \n", + " Abnormal diencephalon morphology\n", + " definition of HP:0010662 (Abnormal diencephalon morphology)\n", + " \n", + " \n", + " An abnormality of the Diencephalon, which together with the cerebrum (telencephalon) makes up the forebrain.\n", + " definition of HP:0010662 (Abnormal diencephalon morphology)\n", + " \n", + " \n", + " #Abnormality of the diencephalon\n", + " definition of HP:0010662 (Abnormal diencephalon morphology)\n", + " \n", + " \n", + " Hypoasparaginemia\n", + " definition of HP:0500157 (Hypoasparaginemia)\n", + " \n", + " \n", + " A decreased amount of asparagine in the blood.\n", + " definition of HP:0500157 (Hypoasparaginemia)\n", + " \n", + " \n", + " #Decreased blood asparagine concentration #Low blood asparagine levels\n", + " definition of HP:0500157 (Hypoasparaginemia)\n", + " \n", + " \n", + " Insulin-dependent but ketosis-resistant diabetes\n", + " definition of HP:0008205 (Insulin-dependent but ketosis-resistant diabetes)\n", + " \n", + " \n", + " Ketosis-resistant diabetes is a synonym for type II diabetes. This term thus refers to a form of type II diabetes in which patients are dependent on insulin.\n", + " definition of HP:0008205 (Insulin-dependent but ketosis-resistant diabetes)\n", + " \n", + " \n", + " Trident pelvis\n", + " definition of HP:0034044 (Trident pelvis)\n", + " \n", + " \n", + " Spurs at the medial and lateral acetabular margin and in the center of the acetabulum gives rise to shape resembling a three-pronged spear known as trident.\n", + " definition of HP:0034044 (Trident pelvis)\n", + " \n", + " \n", + " #Trident sign\n", + " definition of HP:0034044 (Trident pelvis)\n", + " \n", + " \n", + " Decreased esterified to free carnitine ratio\n", + " definition of HP:0033507 (Decreased esterified to free carnitine ratio)\n", + " \n", + " \n", + " A reduced ratio of acylcarnitine (i.e., esterified carnitine) to free carnitine.\n", + " definition of HP:0033507 (Decreased esterified to free carnitine ratio)\n", + " \n", + " \n", + " EEG with series of focal spikes\n", + " definition of HP:0011194 (EEG with series of focal spikes)\n", + " \n", + " \n", + " Focal spikes occurring for several seconds.\n", + " definition of HP:0011194 (EEG with series of focal spikes)\n", + " \n", + " \n", + " Decreased proportion of class-switched memory B cells\n", + " definition of HP:0030388 (Decreased proportion of class-switched memory B cells)\n", + " \n", + " \n", + " A reduction in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA.\n", + " definition of HP:0030388 (Decreased proportion of class-switched memory B cells)\n", + " \n", + " \n", + " #Decreased proportion of CD19+CD27+IgD- cells\n", + " definition of HP:0030388 (Decreased proportion of class-switched memory B cells)\n", + " \n", + " \n", + " Elevated circulating C6 acylcarnitine concentration\n", + " definition of HP:0035026 (Elevated circulating C6 acylcarnitine concentration)\n", + " \n", + " \n", + " Concentration of C6 acylcarnitines in the blood circulation above the upper limit of normal. C6 acylcarnitines have a six-carbon acyl chain.\n", + " definition of HP:0035026 (Elevated circulating C6 acylcarnitine concentration)\n", + " \n", + " \n", + " Midsystolic murmur\n", + " definition of HP:0031665 (Midsystolic murmur)\n", + " \n", + " \n", + " A systolic murmur that begins after S1 and ends before S2, typically with a crescendo-decrescendo pattern.\n", + " definition of HP:0031665 (Midsystolic murmur)\n", + " \n", + " \n", + " Epithelioid hemangioma\n", + " definition of HP:0032060 (Epithelioid hemangioma)\n", + " \n", + " \n", + " A benign neoplasm that includes blood vessel proliferation and a dense eosinophilic inflammatory infiltrate, manifesting as flesh/plum-colored pruritic nodules and papules, most commonly affecting the ear and the periauricular area.\n", + " definition of HP:0032060 (Epithelioid hemangioma)\n", + " \n", + " \n", + " #Angiolymphoid hyperplasia with eosinophilia\n", + " definition of HP:0032060 (Epithelioid hemangioma)\n", + " \n", + " \n", + " Myocardial bridging\n", + " definition of HP:0025490 (Myocardial bridging)\n", + " \n", + " \n", + " A congenital variant of a coronary artery in which a portion of an epicardial coronary artery (most frequently the middle segment of the left anterior descending artery) takes an intramuscular course.\n", + " definition of HP:0025490 (Myocardial bridging)\n", + " \n", + " \n", + " #Intramyocardial coronary artery course\n", + " definition of HP:0025490 (Myocardial bridging)\n", + " \n", + " \n", + " Ureteral triplication\n", + " definition of HP:0008705 (Ureteral triplication)\n", + " \n", + " \n", + " Bussaca nodules\n", + " definition of HP:0034821 (Bussaca nodules)\n", + " \n", + " \n", + " A type of iris nodule consisting of inflammatory cell precipitates which lie on the iris surface.\n", + " definition of HP:0034821 (Bussaca nodules)\n", + " \n", + " \n", + " Abnormal cortical radial artery lumen morphology\n", + " definition of HP:0033884 (Abnormal cortical radial artery lumen morphology)\n", + " \n", + " \n", + " Abnormal structural characteristics of the interior space of the cortical radial arteries of the kidney.\n", + " definition of HP:0033884 (Abnormal cortical radial artery lumen morphology)\n", + " \n", + " \n", + " #Abnormal interlobular arterial lumen morphology\n", + " definition of HP:0033884 (Abnormal cortical radial artery lumen morphology)\n", + " \n", + " \n", + " Sarcoplasmic bodies\n", + " definition of HP:0034722 (Sarcoplasmic bodies)\n", + " \n", + " \n", + " Rounded or oval structures that appeared brown on hematoxylin and eosin and red on the modified Gomori trichrome stain.\n", + " definition of HP:0034722 (Sarcoplasmic bodies)\n", + " \n", + " \n", + " Abnormal 4th finger morphology\n", + " definition of HP:0004188 (Abnormal 4th finger morphology)\n", + " \n", + " \n", + " #Abnormality of the 4th finger #Abnormality of the ring finger\n", + " definition of HP:0004188 (Abnormal 4th finger morphology)\n", + " \n", + " \n", + " Adipocyte hypertrophy\n", + " definition of HP:0030759 (Adipocyte hypertrophy)\n", + " \n", + " \n", + " An increase in mean adipocyte cell size. This feature can be measured by determining the average cell diameter of adipocytes microscopically using abdominal subcutaneous adipose tissue obtained by biopsy.\n", + " definition of HP:0030759 (Adipocyte hypertrophy)\n", + " \n", + " \n", + " #Fat cell hypertrophy\n", + " definition of HP:0030759 (Adipocyte hypertrophy)\n", + " \n", + " \n", + " Acute rhabdomyolysis\n", + " definition of HP:0008942 (Acute rhabdomyolysis)\n", + " \n", + " \n", + " An acute form of rhabdomyolysis.\n", + " definition of HP:0008942 (Acute rhabdomyolysis)\n", + " \n", + " \n", + " #Rhabdomyolysis, acute\n", + " definition of HP:0008942 (Acute rhabdomyolysis)\n", + " \n", + " \n", + " Increased multinucleated megakaryocyte count\n", + " definition of HP:0031387 (Increased multinucleated megakaryocyte count)\n", + " \n", + " \n", + " The presence of abnormally high numbers of multinucleated megakaryocytes in the bone marrow.\n", + " definition of HP:0031387 (Increased multinucleated megakaryocyte count)\n", + " \n", + " \n", + " Uric acid urolithiasis independent of gout\n", + " definition of HP:0008651 (Uric acid urolithiasis independent of gout)\n", + " \n", + " \n", + " Anti-thyroid-stimulating hormone receptor antibody positivity\n", + " definition of HP:0034189 (Anti-thyroid-stimulating hormone receptor antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid-stimulating hormone.\n", + " definition of HP:0034189 (Anti-thyroid-stimulating hormone receptor antibody positivity)\n", + " \n", + " \n", + " #Anti-thyrotropin receptor antibody #Anti-TSH receptor antibody positivity #TRAbs\n", + " definition of HP:0034189 (Anti-thyroid-stimulating hormone receptor antibody positivity)\n", + " \n", + " \n", + " Abdominal guarding\n", + " definition of HP:0032546 (Abdominal guarding)\n", + " \n", + " \n", + " A voluntary contraction of the abdominal wall musculature to avoid pain.\n", + " definition of HP:0032546 (Abdominal guarding)\n", + " \n", + " \n", + " Epidermal acanthosis\n", + " definition of HP:0025092 (Epidermal acanthosis)\n", + " \n", + " \n", + " Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin).\n", + " definition of HP:0025092 (Epidermal acanthosis)\n", + " \n", + " \n", + " #Acanthosis #Acanthotic epidermis #Thickening of upper layer of skin\n", + " definition of HP:0025092 (Epidermal acanthosis)\n", + " \n", + " \n", + " Morphological central nervous system abnormality\n", + " definition of HP:0002011 (Morphological central nervous system abnormality)\n", + " \n", + " \n", + " A structural abnormality of the central nervous system.\n", + " definition of HP:0002011 (Morphological central nervous system abnormality)\n", + " \n", + " \n", + " #Abnormality of the central nervous system #Morphological abnormality of the central nervous system #Morphological abnormality of the CNS\n", + " definition of HP:0002011 (Morphological central nervous system abnormality)\n", + " \n", + " \n", + " Cyclopia\n", + " definition of HP:0009914 (Cyclopia)\n", + " \n", + " \n", + " Cyclopia is a congenital abnormality in which there is only one eye. That eye is centrally placed in the area normally occupied by the root of the nose.\n", + " definition of HP:0009914 (Cyclopia)\n", + " \n", + " \n", + " #Cyclops eye #Single central eye\n", + " definition of HP:0009914 (Cyclopia)\n", + " \n", + " \n", + " Supernumerary metacarpal bones\n", + " definition of HP:0005917 (Supernumerary metacarpal bones)\n", + " \n", + " \n", + " The presence of more than the normal number of metacarpal bones.\n", + " definition of HP:0005917 (Supernumerary metacarpal bones)\n", + " \n", + " \n", + " #Extra long bones of hand\n", + " definition of HP:0005917 (Supernumerary metacarpal bones)\n", + " \n", + " \n", + " Postaxial polydactyly\n", + " definition of HP:0100259 (Postaxial polydactyly)\n", + " \n", + " \n", + " A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe.\n", + " definition of HP:0100259 (Postaxial polydactyly)\n", + " \n", + " \n", + " #Polydactyly, postaxial #Postaxial hexadactyly\n", + " definition of HP:0100259 (Postaxial polydactyly)\n", + " \n", + " \n", + " Abnormal retinal artery morphology\n", + " definition of HP:0000630 (Abnormal retinal artery morphology)\n", + " \n", + " \n", + " #Abnormality of retinal arteries #Retinal arterial abnormality\n", + " definition of HP:0000630 (Abnormal retinal artery morphology)\n", + " \n", + " \n", + " Slender humeral diaphysis\n", + " definition of HP:0003934 (Slender humeral diaphysis)\n", + " \n", + " \n", + " #Slender shaft of long bone in upper arm\n", + " definition of HP:0003934 (Slender humeral diaphysis)\n", + " \n", + " \n", + " Reduced subcutaneous adipose tissue\n", + " definition of HP:0003758 (Reduced subcutaneous adipose tissue)\n", + " \n", + " \n", + " A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness.\n", + " definition of HP:0003758 (Reduced subcutaneous adipose tissue)\n", + " \n", + " \n", + " #Decreased subcutaneous adipose tissue #Decreased subcutaneous fat #Reduced fat tissue below the skin #Reduced subcutaneous fat #Scanty adipose tissue\n", + " definition of HP:0003758 (Reduced subcutaneous adipose tissue)\n", + " \n", + " \n", + " Delayed cranial suture closure\n", + " definition of HP:0000270 (Delayed cranial suture closure)\n", + " \n", + " \n", + " Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age.\n", + " definition of HP:0000270 (Delayed cranial suture closure)\n", + " \n", + " \n", + " #Broad late closing cranial sutures #Delayed closure of fontanel #Delayed closure of fontanelles #Delayed closure of fontanels #Delayed closure of the fontanelles #Delayed cranial suture closure #Delayed fontanel closure #Delayed fontanelle closure #Late closing fontanelles #Late closure of fontanelle #Late-closing fontanelle #Open sutures\n", + " definition of HP:0000270 (Delayed cranial suture closure)\n", + " \n", + " \n", + " Palmar hyperlinearity\n", + " definition of HP:0033252 (Palmar hyperlinearity)\n", + " \n", + " \n", + " Exaggerated skin markings (dermatoglyphics) on the palms of the hand.\n", + " definition of HP:0033252 (Palmar hyperlinearity)\n", + " \n", + " \n", + " Cloverleaf skull\n", + " definition of HP:0002676 (Cloverleaf skull)\n", + " \n", + " \n", + " Trilobar skull configuration when viewed from the front or behind.\n", + " definition of HP:0002676 (Cloverleaf skull)\n", + " \n", + " \n", + " #Kleeblattschaedel\n", + " definition of HP:0002676 (Cloverleaf skull)\n", + " \n", + " \n", + " Reduced sharing of interests\n", + " definition of HP:4000084 (Reduced sharing of interests)\n", + " \n", + " \n", + " An absence or abnormally low frequency of engaging with others to share personal interests or topics. Interest sharing includes offers of information about oneself as a form of social interaction.\n", + " definition of HP:4000084 (Reduced sharing of interests)\n", + " \n", + " \n", + " Presence of xenobiotic\n", + " definition of HP:0031838 (Presence of xenobiotic)\n", + " \n", + " \n", + " Presence of a chemical substance found within an individual that is not naturally produced or expected to be present in human tissues or bodily fluids.\n", + " definition of HP:0031838 (Presence of xenobiotic)\n", + " \n", + " \n", + " Reticulocytopenia\n", + " definition of HP:0001896 (Reticulocytopenia)\n", + " \n", + " \n", + " A reduced number of reticulocytes in the peripheral blood.\n", + " definition of HP:0001896 (Reticulocytopenia)\n", + " \n", + " \n", + " Renal interstitial xanthogranulomatous inflammation\n", + " definition of HP:0032646 (Renal interstitial xanthogranulomatous inflammation)\n", + " \n", + " \n", + " Inflammation of interstitial tissues of the kidney consisting of foamy macrophages admixed with plasma cells, lymphocytes and neutrophils and occasional giant cells.\n", + " definition of HP:0032646 (Renal interstitial xanthogranulomatous inflammation)\n", + " \n", + " \n", + " Placenta increta\n", + " definition of HP:0025655 (Placenta increta)\n", + " \n", + " \n", + " Abnormal placental pentration into but not beyond the uterine wall.\n", + " definition of HP:0025655 (Placenta increta)\n", + " \n", + " \n", + " Cutaneous syndactyly of toes\n", + " definition of HP:0010621 (Cutaneous syndactyly of toes)\n", + " \n", + " \n", + " A soft tissue continuity in the anteroposterior axis between adjacent foot digits that involves at least half of the proximodistal length of one of the two involved digits; or, a soft tissue continuity in the A/P axis between two digits of the foot that does not meet the prior objective criteria.\n", + " definition of HP:0010621 (Cutaneous syndactyly of toes)\n", + " \n", + " \n", + " #Cutaneous syndactyly of feet #soft tissue syndactyly of toes #Webbed skin of toes\n", + " definition of HP:0010621 (Cutaneous syndactyly of toes)\n", + " \n", + " \n", + " Tarsometatarsal synostosis\n", + " definition of HP:0100329 (Tarsometatarsal synostosis)\n", + " \n", + " \n", + " #Fused bones of the midfoot\n", + " definition of HP:0100329 (Tarsometatarsal synostosis)\n", + " \n", + " \n", + " Abnormality of upper limb joint\n", + " definition of HP:0009810 (Abnormality of upper limb joint)\n", + " \n", + " \n", + " #Abnormality of the joints of the upper limbs #Abnormality of upper limb joint\n", + " definition of HP:0009810 (Abnormality of upper limb joint)\n", + " \n", + " \n", + " Chronic hepatic failure\n", + " definition of HP:0100626 (Chronic hepatic failure)\n", + " \n", + " \n", + " #Chronic liver failure\n", + " definition of HP:0100626 (Chronic hepatic failure)\n", + " \n", + " \n", + " Anti-neurofascin 186 antibody positivity\n", + " definition of HP:0034136 (Anti-neurofascin 186 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against NF186.\n", + " definition of HP:0034136 (Anti-neurofascin 186 antibody positivity)\n", + " \n", + " \n", + " #Anti-NF186 antibody positivity\n", + " definition of HP:0034136 (Anti-neurofascin 186 antibody positivity)\n", + " \n", + " \n", + " Calcification of muscles\n", + " definition of HP:0100249 (Calcification of muscles)\n", + " \n", + " \n", + " Deposition of calcium salts in muscle tissue.\n", + " definition of HP:0100249 (Calcification of muscles)\n", + " \n", + " \n", + " #Skeletal muscle calcinosis\n", + " definition of HP:0100249 (Calcification of muscles)\n", + " \n", + " \n", + " Decreased serum thromboxane B2\n", + " definition of HP:0032244 (Decreased serum thromboxane B2)\n", + " \n", + " \n", + " A reduction in the concentration of thromboxane B2 in the blood circulation.\n", + " definition of HP:0032244 (Decreased serum thromboxane B2)\n", + " \n", + " \n", + " Elevated circulating apolipoprotein A-II concentration\n", + " definition of HP:0031800 (Elevated circulating apolipoprotein A-II concentration)\n", + " \n", + " \n", + " An increased concentration in blood of apolipoprotein A-II, a major component of HDL particles, associated with triglyceride and glucose metabolism.\n", + " definition of HP:0031800 (Elevated circulating apolipoprotein A-II concentration)\n", + " \n", + " \n", + " #Elevated Apo-AII level #Elevated apoA-II level #Elevated APOAII level #Elevated apolipoprotein A-II level\n", + " definition of HP:0031800 (Elevated circulating apolipoprotein A-II concentration)\n", + " \n", + " \n", + " Aborted sudden cardiac death\n", + " definition of HP:0031628 (Aborted sudden cardiac death)\n", + " \n", + " \n", + " Cardiac arrest that would have led to rapid and unexpected death had an intervention not taken place to prevent it.\n", + " definition of HP:0031628 (Aborted sudden cardiac death)\n", + " \n", + " \n", + " #Sudden cardiac arrest\n", + " definition of HP:0031628 (Aborted sudden cardiac death)\n", + " \n", + " \n", + " Shoulder extension contracture\n", + " definition of HP:0034666 (Shoulder extension contracture)\n", + " \n", + " \n", + " Lack of the full expected passive range of flexion of the shoulder joint (Shoulder flexion puts the arms from a resting position at one's sides to straight above the head; thus, with shoulder extension contracture it is not possible to raise the arms above the head fully).\n", + " definition of HP:0034666 (Shoulder extension contracture)\n", + " \n", + " \n", + " Periostitis\n", + " definition of HP:0040165 (Periostitis)\n", + " \n", + " \n", + " Inflammation of the periosteum\n", + " definition of HP:0040165 (Periostitis)\n", + " \n", + " \n", + " #Periostalgia\n", + " definition of HP:0040165 (Periostitis)\n", + " \n", + " \n", + " Duplication of the proximal phalanx of the 3rd finger\n", + " definition of HP:0009964 (Duplication of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Partial or complete duplication of the third proximal phalanx of hand.\n", + " definition of HP:0009964 (Duplication of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Duplication of the proximal bone of the middle finger #Partial/complete duplication of the proximal phalanx of the 3rd finger\n", + " definition of HP:0009964 (Duplication of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Decreased circulating beta-carotene concentration\n", + " definition of HP:0430073 (Decreased circulating beta-carotene concentration)\n", + " \n", + " \n", + " The concentration of beta-carotene in the blood circulation is below the lower limit of normal.\n", + " definition of HP:0430073 (Decreased circulating beta-carotene concentration)\n", + " \n", + " \n", + " Neoplasm of the penis\n", + " definition of HP:0100850 (Neoplasm of the penis)\n", + " \n", + " \n", + " A tumor (abnormal growth of tissue) of the penis.\n", + " definition of HP:0100850 (Neoplasm of the penis)\n", + " \n", + " \n", + " #Neoplasia of the penis #Penis tumor #Penis tumour\n", + " definition of HP:0100850 (Neoplasm of the penis)\n", + " \n", + " \n", + " Sclerosis of thumb phalanx\n", + " definition of HP:0100922 (Sclerosis of thumb phalanx)\n", + " \n", + " \n", + " #Increased bone density in thumb bone #Sclerosis of the phalanges of the thumb\n", + " definition of HP:0100922 (Sclerosis of thumb phalanx)\n", + " \n", + " \n", + " Aplasia/Hypoplasia affecting the uvea\n", + " definition of HP:0008055 (Aplasia/Hypoplasia affecting the uvea)\n", + " \n", + " \n", + " Absence or underdevelopment of the uvea, the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid.\n", + " definition of HP:0008055 (Aplasia/Hypoplasia affecting the uvea)\n", + " \n", + " \n", + " #Absent/underdeveloped uvea\n", + " definition of HP:0008055 (Aplasia/Hypoplasia affecting the uvea)\n", + " \n", + " \n", + " Hemolacria\n", + " definition of HP:0034803 (Hemolacria)\n", + " \n", + " \n", + " The presence of blood in tears.\n", + " definition of HP:0034803 (Hemolacria)\n", + " \n", + " \n", + " #Bloody epiphora #Bloody tears #Red tears\n", + " definition of HP:0034803 (Hemolacria)\n", + " \n", + " \n", + " Abnormality of thyroid physiology\n", + " definition of HP:0002926 (Abnormality of thyroid physiology)\n", + " \n", + " \n", + " An abnormal functionality of the thyroid gland.\n", + " definition of HP:0002926 (Abnormality of thyroid physiology)\n", + " \n", + " \n", + " #Abnormal thyroid function\n", + " definition of HP:0002926 (Abnormality of thyroid physiology)\n", + " \n", + " \n", + " 3-4 metacarpal synostosis\n", + " definition of HP:4000062 (3-4 metacarpal synostosis)\n", + " \n", + " \n", + " A congenital hand malformation characterized by the coalescence of the coalescence of third and fourth metacarpals (i.e., those corresponding to the middle and ring fingers).\n", + " definition of HP:4000062 (3-4 metacarpal synostosis)\n", + " \n", + " \n", + " #Fused third and fourth metacarpals #Middle and ring finger metacarpal synostosis #Synostosis of third and the fourth metacarpal bones\n", + " definition of HP:4000062 (3-4 metacarpal synostosis)\n", + " \n", + " \n", + " Anti-D-L antibody positivity\n", + " definition of HP:6000387 (Anti-D-L antibody positivity)\n", + " \n", + " \n", + " The presence of Donath-Landsteiner (D-L) autoantibodies (immunoglobulins) in the serum.\n", + " definition of HP:6000387 (Anti-D-L antibody positivity)\n", + " \n", + " \n", + " #Anti-Donath-Landsteiner antibody positivity\n", + " definition of HP:6000387 (Anti-D-L antibody positivity)\n", + " \n", + " \n", + " Alopecia totalis\n", + " definition of HP:0007418 (Alopecia totalis)\n", + " \n", + " \n", + " Loss of all scalp hair.\n", + " definition of HP:0007418 (Alopecia totalis)\n", + " \n", + " \n", + " Bilateral cleft lip\n", + " definition of HP:0100336 (Bilateral cleft lip)\n", + " \n", + " \n", + " A non-midline cleft of the upper lip on the left and right sides.\n", + " definition of HP:0100336 (Bilateral cleft lip)\n", + " \n", + " \n", + " #Bilateral cheiloschisis #Both sided cleft lip #Right and left cleft lip\n", + " definition of HP:0100336 (Bilateral cleft lip)\n", + " \n", + " \n", + " Triangular-shaped open mouth\n", + " definition of HP:0200096 (Triangular-shaped open mouth)\n", + " \n", + " \n", + " A facial appearance characterized by a permanently or nearly permanently opened mouth, in which the upper lip is tented in a way that the opened mouth has the appearance of a triangle.\n", + " definition of HP:0200096 (Triangular-shaped open mouth)\n", + " \n", + " \n", + " #Triangular-shaped open mouth\n", + " definition of HP:0200096 (Triangular-shaped open mouth)\n", + " \n", + " \n", + " Decreased fertility\n", + " definition of HP:0000144 (Decreased fertility)\n", + " \n", + " \n", + " #Abnormal fertility #Decreased fertility\n", + " definition of HP:0000144 (Decreased fertility)\n", + " \n", + " \n", + " Ascites\n", + " definition of HP:0001541 (Ascites)\n", + " \n", + " \n", + " Accumulation of fluid in the peritoneal cavity.\n", + " definition of HP:0001541 (Ascites)\n", + " \n", + " \n", + " #Accumulation of fluid in the abdomen\n", + " definition of HP:0001541 (Ascites)\n", + " \n", + " \n", + " Ectopic ovary\n", + " definition of HP:0031086 (Ectopic ovary)\n", + " \n", + " \n", + " Undescended or ectopic ovaries are characterized by the attachment of the upper pole of the ovary to an area above the level of the common iliac vessels.\n", + " definition of HP:0031086 (Ectopic ovary)\n", + " \n", + " \n", + " #Undescended ovary\n", + " definition of HP:0031086 (Ectopic ovary)\n", + " \n", + " \n", + " Hand muscle weakness\n", + " definition of HP:0030237 (Hand muscle weakness)\n", + " \n", + " \n", + " Reduced strength of the musculature of the hand.\n", + " definition of HP:0030237 (Hand muscle weakness)\n", + " \n", + " \n", + " #Hand muscle weakness\n", + " definition of HP:0030237 (Hand muscle weakness)\n", + " \n", + " \n", + " Clinodactyly\n", + " definition of HP:0030084 (Clinodactyly)\n", + " \n", + " \n", + " An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).\n", + " definition of HP:0030084 (Clinodactyly)\n", + " \n", + " \n", + " #Permanent curving of the finger\n", + " definition of HP:0030084 (Clinodactyly)\n", + " \n", + " \n", + " Slow pupillary light response\n", + " definition of HP:0030211 (Slow pupillary light response)\n", + " \n", + " \n", + " Reduced velocity and acceleration in the pupillary light response.\n", + " definition of HP:0030211 (Slow pupillary light response)\n", + " \n", + " \n", + " #Sluggish pupillary reaction\n", + " definition of HP:0030211 (Slow pupillary light response)\n", + " \n", + " \n", + " Renal tubular epithelial lipofuscin\n", + " definition of HP:0032606 (Renal tubular epithelial lipofuscin)\n", + " \n", + " \n", + " Presence of increased amount of lipofuscin, a yellow, granular cytoplasmic pigment in the renal tubules.\n", + " definition of HP:0032606 (Renal tubular epithelial lipofuscin)\n", + " \n", + " \n", + " Abnormal alveolar type II pneumocyte morphology\n", + " definition of HP:0033245 (Abnormal alveolar type II pneumocyte morphology)\n", + " \n", + " \n", + " Any structural abnormality of alveolar type 2 (ATII) cells.\n", + " definition of HP:0033245 (Abnormal alveolar type II pneumocyte morphology)\n", + " \n", + " \n", + " #Abnormal alveolar epithelial type II cell morphology #Abnormal pulmonary type II cell morphology #Abnormal type II pneumocyte morphology\n", + " definition of HP:0033245 (Abnormal alveolar type II pneumocyte morphology)\n", + " \n", + " \n", + " Decreased circulating dehydroepiandrosterone concentration\n", + " definition of HP:0031214 (Decreased circulating dehydroepiandrosterone concentration)\n", + " \n", + " \n", + " #Decreased circulating dehydroepiandrosterone level\n", + " definition of HP:0031214 (Decreased circulating dehydroepiandrosterone concentration)\n", + " \n", + " \n", + " Hemihypotrophy of lower limb\n", + " definition of HP:0200053 (Hemihypotrophy of lower limb)\n", + " \n", + " \n", + " Shortening of a leg affecting only one side.\n", + " definition of HP:0200053 (Hemihypotrophy of lower limb)\n", + " \n", + " \n", + " #Asymmetric leg shortening #Asymmetric lower limb shortness\n", + " definition of HP:0200053 (Hemihypotrophy of lower limb)\n", + " \n", + " \n", + " Photoreceptor layer loss on macular OCT\n", + " definition of HP:0030609 (Photoreceptor layer loss on macular OCT)\n", + " \n", + " \n", + " Loss of the outer nuclear layer (photoreceptor layer) as assessed by ocular coherence tomography.\n", + " definition of HP:0030609 (Photoreceptor layer loss on macular OCT)\n", + " \n", + " \n", + " Triangular shaped distal phalanx of the thumb\n", + " definition of HP:0009648 (Triangular shaped distal phalanx of the thumb)\n", + " \n", + " \n", + " Triangular shaped distal phalanx of the thumb. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.\n", + " definition of HP:0009648 (Triangular shaped distal phalanx of the thumb)\n", + " \n", + " \n", + " #Triangular shaped outermost bone of the thumb\n", + " definition of HP:0009648 (Triangular shaped distal phalanx of the thumb)\n", + " \n", + " \n", + " Tibial pseudarthrosis\n", + " definition of HP:0009736 (Tibial pseudarthrosis)\n", + " \n", + " \n", + " Pseudarthrosis, or \\"false joint\\" of the tibia is the result of a developmental failure in the tibia progressing to spontaneous fracture and subsequent fibrous nonunion. The fracture is rarely present at birth but commonly develops during the first 18 months of life.\n", + " definition of HP:0009736 (Tibial pseudarthrosis)\n", + " \n", + " \n", + " #Tibial pseudoarthrosis\n", + " definition of HP:0009736 (Tibial pseudarthrosis)\n", + " \n", + " \n", + " Drumstick terminal phalanges\n", + " definition of HP:0006129 (Drumstick terminal phalanges)\n", + " \n", + " \n", + " Rounding and broadening of the tufts of the distal phalanges.\n", + " definition of HP:0006129 (Drumstick terminal phalanges)\n", + " \n", + " \n", + " #Drumstick shaped digital bones\n", + " definition of HP:0006129 (Drumstick terminal phalanges)\n", + " \n", + " \n", + " Increased circulating interleukin 17A concentration\n", + " definition of HP:0034178 (Increased circulating interleukin 17A concentration)\n", + " \n", + " \n", + " An abnormally increased concentration of interleukin 17A in the blood circulation.\n", + " definition of HP:0034178 (Increased circulating interleukin 17A concentration)\n", + " \n", + " \n", + " Severe albuminuria\n", + " definition of HP:0033066 (Severe albuminuria)\n", + " \n", + " \n", + " The presence of severely increased concentrations of albumin in the urine, defined as an albumin-creatinine ratio greater than 300 mg/gm (greater than 34 mg/mmol).\n", + " definition of HP:0033066 (Severe albuminuria)\n", + " \n", + " \n", + " #Heavy albuminuria\n", + " definition of HP:0033066 (Severe albuminuria)\n", + " \n", + " \n", + " Hypoplasia of the Leydig cells\n", + " definition of HP:0010790 (Hypoplasia of the Leydig cells)\n", + " \n", + " \n", + " Underdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone.\n", + " definition of HP:0010790 (Hypoplasia of the Leydig cells)\n", + " \n", + " \n", + " Abnormality of iron homeostasis\n", + " definition of HP:0011031 (Abnormality of iron homeostasis)\n", + " \n", + " \n", + " An abnormality of the homeostasis (concentration) of iron cation.\n", + " definition of HP:0011031 (Abnormality of iron homeostasis)\n", + " \n", + " \n", + " Elevated CSF argininosuccinic acid concentration\n", + " definition of HP:0034734 (Elevated CSF argininosuccinic acid concentration)\n", + " \n", + " \n", + " Concentration of argininosuccinic acid in the cerebrospinal fluid (CSF) above the upper limit of normal.\n", + " definition of HP:0034734 (Elevated CSF argininosuccinic acid concentration)\n", + " \n", + " \n", + " #Argininosuccinic acid high in CSF\n", + " definition of HP:0034734 (Elevated CSF argininosuccinic acid concentration)\n", + " \n", + " \n", + " Severe oligozoospermia\n", + " definition of HP:0034818 (Severe oligozoospermia)\n", + " \n", + " \n", + " A type of oligozoospermia characterized by a total number of more than 2 but less than 10 million sperm in the ejaculate or a concentration of more than 1 but less than 5 million sperm per milliliter.\n", + " definition of HP:0034818 (Severe oligozoospermia)\n", + " \n", + " \n", + " Abnormal serum bicarbonate concentration\n", + " definition of HP:0032065 (Abnormal serum bicarbonate concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of bicarbonate, HCO3[-], in the circulation.\n", + " definition of HP:0032065 (Abnormal serum bicarbonate concentration)\n", + " \n", + " \n", + " #Abnormal serum HCO3 concentration\n", + " definition of HP:0032065 (Abnormal serum bicarbonate concentration)\n", + " \n", + " \n", + " Axonal degeneration\n", + " definition of HP:0040078 (Axonal degeneration)\n", + " \n", + " \n", + " Fusion of the caudate and putamen\n", + " definition of HP:0034180 (Fusion of the caudate and putamen)\n", + " \n", + " \n", + " Abnormal joined appearance of the caudate and putamen with an absence of the anterior limb of the internal capsule.\n", + " definition of HP:0034180 (Fusion of the caudate and putamen)\n", + " \n", + " \n", + " Abnormal sperm motility\n", + " definition of HP:0012206 (Abnormal sperm motility)\n", + " \n", + " \n", + " An anomaly of the mobility of ejaculated sperm.\n", + " definition of HP:0012206 (Abnormal sperm motility)\n", + " \n", + " \n", + " #Abnormal sperm motility\n", + " definition of HP:0012206 (Abnormal sperm motility)\n", + " \n", + " \n", + " Complex febrile seizure\n", + " definition of HP:0011172 (Complex febrile seizure)\n", + " \n", + " \n", + " A febrile seizure that has any of the following features: focal semiology (or associated with post-ictal neurologic abnormalities beyond drowsiness, such as a Todd's paresis), prolonged seizure beyond 15 minutes, or recurring (occurring more than once) in a 24 hour period.\n", + " definition of HP:0011172 (Complex febrile seizure)\n", + " \n", + " \n", + " #Complex febrile convulsion #Complex febrile seizures #Complex fever fit\n", + " definition of HP:0011172 (Complex febrile seizure)\n", + " \n", + " \n", + " Increased lymph-node cellular CD20 expression\n", + " definition of HP:0020291 (Increased lymph-node cellular CD20 expression)\n", + " \n", + " \n", + " Increased levels of CD20 expression compared to normal B cells.\n", + " definition of HP:0020291 (Increased lymph-node cellular CD20 expression)\n", + " \n", + " \n", + " Heliotrope rash of eyelid\n", + " definition of HP:0030845 (Heliotrope rash of eyelid)\n", + " \n", + " \n", + " Heliotrope rash is a violaceous discoloration of the eyelids associated with periorbital edema.\n", + " definition of HP:0030845 (Heliotrope rash of eyelid)\n", + " \n", + " \n", + " Elevated circulating C18 acylcarnitine concentration\n", + " definition of HP:0035020 (Elevated circulating C18 acylcarnitine concentration)\n", + " \n", + " \n", + " Concentration of C18 acylcarnitines in the blood circulation above the upper limit of normal. C18 acylcarnitines have a eighteen-carbon acyl chain.\n", + " definition of HP:0035020 (Elevated circulating C18 acylcarnitine concentration)\n", + " \n", + " \n", + " Halberd-shaped pelvis\n", + " definition of HP:0002826 (Halberd-shaped pelvis)\n", + " \n", + " \n", + " An anomalous radiographic appearance of the developing pelvis, in which the greater ischiadic noth (incisura ischiadica major) is shallow and the pelvis takes on the appearance said to resemble a halberd (a weapon especially of the 15th and 16th centuries consisting typically of a battle-ax and pike mounted on a handle).\n", + " definition of HP:0002826 (Halberd-shaped pelvis)\n", + " \n", + " \n", + " #Halberd-shaped pelvis bone\n", + " definition of HP:0002826 (Halberd-shaped pelvis)\n", + " \n", + " \n", + " External carotid artery dissection\n", + " definition of HP:0012161 (External carotid artery dissection)\n", + " \n", + " \n", + " A separation (dissection) of the layers of the external carotid artery wall.\n", + " definition of HP:0012161 (External carotid artery dissection)\n", + " \n", + " \n", + " Decreased QRS voltage\n", + " definition of HP:0025077 (Decreased QRS voltage)\n", + " \n", + " \n", + " Reduced amplitude (height) of the QRS complex of the electrocardiogram (EKG), defined as amplitudes of all the QRS complexes in the limb leads are less than 5 mm or amplitudes of all the QRS complexes in the precordial leads less than 10 mm.\n", + " definition of HP:0025077 (Decreased QRS voltage)\n", + " \n", + " \n", + " Cleft earlobe\n", + " definition of HP:0011265 (Cleft earlobe)\n", + " \n", + " \n", + " Discontinuity in the convexity of the inferior margin of the lobe.\n", + " definition of HP:0011265 (Cleft earlobe)\n", + " \n", + " \n", + " #Bifid earlobe #Bifid lobe #Cleft earlobe #Notched earlobe #Notched lobe\n", + " definition of HP:0011265 (Cleft earlobe)\n", + " \n", + " \n", + " Neoplasm of the skin\n", + " definition of HP:0008069 (Neoplasm of the skin)\n", + " \n", + " \n", + " A tumor (abnormal growth of tissue) of the skin.\n", + " definition of HP:0008069 (Neoplasm of the skin)\n", + " \n", + " \n", + " #Dermatological tumors #Dermatological tumours #Skin tumors #Skin tumours #Tumor of the skin #Tumour of the skin\n", + " definition of HP:0008069 (Neoplasm of the skin)\n", + " \n", + " \n", + " Cortical radial artery intima/media liquefactive necrosis\n", + " definition of HP:0033936 (Cortical radial artery intima/media liquefactive necrosis)\n", + " \n", + " \n", + " A type of cortical radial artery intima/media necrosis in which the dead (necrotic) tissue breaks down such that cellular detail is no longer recognized.\n", + " definition of HP:0033936 (Cortical radial artery intima/media liquefactive necrosis)\n", + " \n", + " \n", + " #Liquefactive necrosis within interlobular arterial intima/media\n", + " definition of HP:0033936 (Cortical radial artery intima/media liquefactive necrosis)\n", + " \n", + " \n", + " Diminished tissue very long-chain acyl-CoA dehydrogenase activity\n", + " definition of HP:6000860 (Diminished tissue very long-chain acyl-CoA dehydrogenase activity)\n", + " \n", + " \n", + " Diminished activity of Very long-chain acyl-CoA dehydrogenase (VLCAD), an enzyme that catalyzes the initial step of mitochondrial beta-oxidation of long-chain fatty acids with a chain length of 14 to 20 carbons. VLCAD activity can be measured with biochemical testing using cultured fibroblasts or lymphocytes.\n", + " definition of HP:6000860 (Diminished tissue very long-chain acyl-CoA dehydrogenase activity)\n", + " \n", + " \n", + " Prominent proximal interphalangeal joints\n", + " definition of HP:0006167 (Prominent proximal interphalangeal joints)\n", + " \n", + " \n", + " #Prominent innermost hinge joints\n", + " definition of HP:0006167 (Prominent proximal interphalangeal joints)\n", + " \n", + " \n", + " Mesangial microfibril deposition\n", + " definition of HP:0033546 (Mesangial microfibril deposition)\n", + " \n", + " \n", + " Unbranched noncollagenous microfibrils within the mesangial matrix, composed of proteins not present within the glomerular basement membrane (GBM), most notably fibrillin-1, that attach to mesangial cells and GBM structural proteins.\n", + " definition of HP:0033546 (Mesangial microfibril deposition)\n", + " \n", + " \n", + " Comma-shaped carpal bones\n", + " definition of HP:0004235 (Comma-shaped carpal bones)\n", + " \n", + " \n", + " Fractured sternal end of clavicle\n", + " definition of HP:0041200 (Fractured sternal end of clavicle)\n", + " \n", + " \n", + " A partial or complete breakage of the sternal end of clavicle.\n", + " definition of HP:0041200 (Fractured sternal end of clavicle)\n", + " \n", + " \n", + " #bone sternal end of clavicle\n", + " definition of HP:0041200 (Fractured sternal end of clavicle)\n", + " \n", + " \n", + " Ivory epiphysis of the middle phalanx of the 2nd toe\n", + " definition of HP:0100117 (Ivory epiphysis of the middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Increased bone density of end part of the middle bone of the 2nd toe\n", + " definition of HP:0100117 (Ivory epiphysis of the middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " Spinal hemangioblastoma\n", + " definition of HP:0009713 (Spinal hemangioblastoma)\n", + " \n", + " \n", + " A hemangioblastoma of the spinal cord.\n", + " definition of HP:0009713 (Spinal hemangioblastoma)\n", + " \n", + " \n", + " Loud first heart sound\n", + " definition of HP:0031660 (Loud first heart sound)\n", + " \n", + " \n", + " Abnormally increased volume of the first heart sound.\n", + " definition of HP:0031660 (Loud first heart sound)\n", + " \n", + " \n", + " Delayed vertebral ossification\n", + " definition of HP:0031096 (Delayed vertebral ossification)\n", + " \n", + " \n", + " A decrease in the amount of mineralized bone in one or more vertebrae compared with that expected for a given developmental age.\n", + " definition of HP:0031096 (Delayed vertebral ossification)\n", + " \n", + " \n", + " Membranous lupus nephritis\n", + " definition of HP:0033730 (Membranous lupus nephritis)\n", + " \n", + " \n", + " A lupus nephritis subclass with global or segmental subepithelial immune deposits or their morphological sequelae by light microscopy and by immunofluorescence or electron microscopy, with or without mesangial alterations. May occur in combination with class III or IV, in which case both classes are diagnosed. May show advanced sclerosis\n", + " definition of HP:0033730 (Membranous lupus nephritis)\n", + " \n", + " \n", + " #Class V lupus nephritis\n", + " definition of HP:0033730 (Membranous lupus nephritis)\n", + " \n", + " \n", + " Abnormality of the cell cycle\n", + " definition of HP:0011018 (Abnormality of the cell cycle)\n", + " \n", + " \n", + " An abnormality of the cell cycle.\n", + " definition of HP:0011018 (Abnormality of the cell cycle)\n", + " \n", + " \n", + " #Abnormality of the cell cycle\n", + " definition of HP:0011018 (Abnormality of the cell cycle)\n", + " \n", + " \n", + " Carotid paraganglioma\n", + " definition of HP:0100635 (Carotid paraganglioma)\n", + " \n", + " \n", + " A paraganglioma (a neuroendocrine neoplasm) originating in a carotid artery.\n", + " definition of HP:0100635 (Carotid paraganglioma)\n", + " \n", + " \n", + " Abnormal speech discrimination\n", + " definition of HP:0001963 (Abnormal speech discrimination)\n", + " \n", + " \n", + " A type of hearing impairment prominently characterized by a difficulty in understanding speech, rather than an inability to hear speech. Poor speech discrimination is a very common symptom of high frequency hearing loss.\n", + " definition of HP:0001963 (Abnormal speech discrimination)\n", + " \n", + " \n", + " #Abnormal speech discrimination #Poor speech discrimination\n", + " definition of HP:0001963 (Abnormal speech discrimination)\n", + " \n", + " \n", + " Primary congenital glaucoma\n", + " definition of HP:0008007 (Primary congenital glaucoma)\n", + " \n", + " \n", + " Atrophy/Degeneration affecting the cerebrum\n", + " definition of HP:0007369 (Atrophy/Degeneration affecting the cerebrum)\n", + " \n", + " \n", + " The presence of atrophy (wasting) of the cerebrum, also known as the telencephalon, the largest and most highly developed part of the human brain.\n", + " definition of HP:0007369 (Atrophy/Degeneration affecting the cerebrum)\n", + " \n", + " \n", + " Multiple joint contractures\n", + " definition of HP:0002828 (Multiple joint contractures)\n", + " \n", + " \n", + " Antiparietal cell antibody positivity\n", + " definition of HP:6000343 (Antiparietal cell antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against parietal cell antigens.\n", + " definition of HP:6000343 (Antiparietal cell antibody positivity)\n", + " \n", + " \n", + " Focal behavior arrest seizure\n", + " definition of HP:0011173 (Focal behavior arrest seizure)\n", + " \n", + " \n", + " A type of focal non-motor seizure characterized by an arrest or pause of activities, freezing, or immobilization as the predominant semiological feature throughout the seizure.\n", + " definition of HP:0011173 (Focal behavior arrest seizure)\n", + " \n", + " \n", + " #Focal behaviour arrest seizure #Focal hypokinetic seizure #Hypokinetic seizure #Hypokinetic seizures #Localised seizure with behavioral arrest #Localised seizure with behavioural arrest #Localized seizure with behavioral arrest #Partial hypokinetic seizure #Partial seizure with behavior arrest #Partial seizure with behaviour arrest\n", + " definition of HP:0011173 (Focal behavior arrest seizure)\n", + " \n", + " \n", + " Deep-set nails\n", + " definition of HP:0001814 (Deep-set nails)\n", + " \n", + " \n", + " Deeply placed nails.\n", + " definition of HP:0001814 (Deep-set nails)\n", + " \n", + " \n", + " #Deep-set nails\n", + " definition of HP:0001814 (Deep-set nails)\n", + " \n", + " \n", + " Scarring alopecia of scalp\n", + " definition of HP:0004552 (Scarring alopecia of scalp)\n", + " \n", + " \n", + " #Cicatricial alopecia\n", + " definition of HP:0004552 (Scarring alopecia of scalp)\n", + " \n", + " \n", + " Abnormality of the nervous system\n", + " definition of HP:0000707 (Abnormality of the nervous system)\n", + " \n", + " \n", + " An abnormality of the nervous system.\n", + " definition of HP:0000707 (Abnormality of the nervous system)\n", + " \n", + " \n", + " #Abnormality of the nervous system #Neurologic abnormalities #Neurological abnormality\n", + " definition of HP:0000707 (Abnormality of the nervous system)\n", + " \n", + " \n", + " Pseudoarthrosis\n", + " definition of HP:0005864 (Pseudoarthrosis)\n", + " \n", + " \n", + " A pathologic entity characterized by a developmental defect in a long bone leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or \\"false joint\\").\n", + " definition of HP:0005864 (Pseudoarthrosis)\n", + " \n", + " \n", + " #Pseudoarthroses\n", + " definition of HP:0005864 (Pseudoarthrosis)\n", + " \n", + " \n", + " Beaking of vertebral bodies\n", + " definition of HP:0004568 (Beaking of vertebral bodies)\n", + " \n", + " \n", + " Anterior tongue-like protrusions of the vertebral bodies.\n", + " definition of HP:0004568 (Beaking of vertebral bodies)\n", + " \n", + " \n", + " #anterior beaking #Anterior beaking of vertebrae #Anterior beaking of vertebral bodies #Beaked vertebral bodies #Vertebral tongue-like protrusion\n", + " definition of HP:0004568 (Beaking of vertebral bodies)\n", + " \n", + " \n", + " Medulloblastoma\n", + " definition of HP:0002885 (Medulloblastoma)\n", + " \n", + " \n", + " A rapidly growing embryonic tumor arising in the posterior part of the cerebellar vermis and neuroepithelial roof of the fourth ventricle in children. More rarely, medulloblastoma arises in the cerebellum in adults.\n", + " definition of HP:0002885 (Medulloblastoma)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the premaxilla\n", + " definition of HP:0010756 (Aplasia/Hypoplasia of the premaxilla)\n", + " \n", + " \n", + " Absence or underdevelopment of the premaxilla.\n", + " definition of HP:0010756 (Aplasia/Hypoplasia of the premaxilla)\n", + " \n", + " \n", + " #Aplasia/hypoplasia of the intermaxillary bone #Aplasia/hypoplasia of the primary palate bone\n", + " definition of HP:0010756 (Aplasia/Hypoplasia of the premaxilla)\n", + " \n", + " \n", + " Periapical bone loss\n", + " definition of HP:0000700 (Periapical bone loss)\n", + " \n", + " \n", + " Radiolucency (reflecting a reduction in the bony substance) around the apex (the tip of the dental root).\n", + " definition of HP:0000700 (Periapical bone loss)\n", + " \n", + " \n", + " #Dark spot around tooth root on x-ray #Periapical lesion\n", + " definition of HP:0000700 (Periapical bone loss)\n", + " \n", + " \n", + " Abnormal cortical peritubular capillary lumen morphology\n", + " definition of HP:0033863 (Abnormal cortical peritubular capillary lumen morphology)\n", + " \n", + " \n", + " Abnormal structural characteristics of the interior space of the peritubular capillary in the cortex of the kidney.\n", + " definition of HP:0033863 (Abnormal cortical peritubular capillary lumen morphology)\n", + " \n", + " \n", + " Empty ovarian follicle\n", + " definition of HP:0031067 (Empty ovarian follicle)\n", + " \n", + " \n", + " A failure to collect oocytes after an apparently normal controlled ovarian hyperstimulation cycle for in vitro fertilization.\n", + " definition of HP:0031067 (Empty ovarian follicle)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger\n", + " definition of HP:0009457 (Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Absent/small innermost bone of middle finger #Absent/underdeveloped innermost bone of middle finger\n", + " definition of HP:0009457 (Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Abnormal platelet dense granule secretion\n", + " definition of HP:0030397 (Abnormal platelet dense granule secretion)\n", + " \n", + " \n", + " Abnormal release of dense granules from platelets.\n", + " definition of HP:0030397 (Abnormal platelet dense granule secretion)\n", + " \n", + " \n", + " Pigment deposition in the trabecular meshwork\n", + " definition of HP:0012631 (Pigment deposition in the trabecular meshwork)\n", + " \n", + " \n", + " Accumulation of abnormal amounts of pigment within the trabecular meshwork.\n", + " definition of HP:0012631 (Pigment deposition in the trabecular meshwork)\n", + " \n", + " \n", + " Transverse terminal limb defect\n", + " definition of HP:6000818 (Transverse terminal limb defect)\n", + " \n", + " \n", + " A congenital anomaly that appears as an amputation at different levels of the extremity. The limb is missing the terminal (distal) segment(s), with preservation of all the segment(s) proximal to the missing segment.\n", + " definition of HP:6000818 (Transverse terminal limb defect)\n", + " \n", + " \n", + " #Transverse terminal limb reduction\n", + " definition of HP:6000818 (Transverse terminal limb defect)\n", + " \n", + " \n", + " Myoclonic seizure\n", + " definition of HP:0032794 (Myoclonic seizure)\n", + " \n", + " \n", + " A myoclonic seizure is a type of motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.\n", + " definition of HP:0032794 (Myoclonic seizure)\n", + " \n", + " \n", + " Inflammatory abnormality of the skin\n", + " definition of HP:0011123 (Inflammatory abnormality of the skin)\n", + " \n", + " \n", + " The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes.\n", + " definition of HP:0011123 (Inflammatory abnormality of the skin)\n", + " \n", + " \n", + " #Abnormal tendency to infections of the skin #Inflammatory abnormality of the skin #Skin inflammation\n", + " definition of HP:0011123 (Inflammatory abnormality of the skin)\n", + " \n", + " \n", + " Insect allergy\n", + " definition of HP:0410335 (Insect allergy)\n", + " \n", + " \n", + " Hypersensitivity in form of an adverse immune reaction against insects.\n", + " definition of HP:0410335 (Insect allergy)\n", + " \n", + " \n", + " #Allergy to insects #IgE-mediated insect allergy #Immunoglobulin E-mediated insect allergy #Insect allergy\n", + " definition of HP:0410335 (Insect allergy)\n", + " \n", + " \n", + " Displaced lobar tracheal bronchus\n", + " definition of HP:0033618 (Displaced lobar tracheal bronchus)\n", + " \n", + " \n", + " Accessory entire right upper lobe bronchial system originating from the trachea with absent anatomically normal upper lobe bronchus.\n", + " definition of HP:0033618 (Displaced lobar tracheal bronchus)\n", + " \n", + " \n", + " #Bronchus suis #Pig bronchus\n", + " definition of HP:0033618 (Displaced lobar tracheal bronchus)\n", + " \n", + " \n", + " Decreased lymph-node cellular CD20 expression\n", + " definition of HP:0020292 (Decreased lymph-node cellular CD20 expression)\n", + " \n", + " \n", + " Decreased levels of CD20 expression compared to normal B cells.\n", + " definition of HP:0020292 (Decreased lymph-node cellular CD20 expression)\n", + " \n", + " \n", + " Scapular aplasia\n", + " definition of HP:0010317 (Scapular aplasia)\n", + " \n", + " \n", + " Absence of the scapulae.\n", + " definition of HP:0010317 (Scapular aplasia)\n", + " \n", + " \n", + " #Absent scapula #Absent shoulder blade\n", + " definition of HP:0010317 (Scapular aplasia)\n", + " \n", + " \n", + " Abnormal urine sodium concentration\n", + " definition of HP:0012603 (Abnormal urine sodium concentration)\n", + " \n", + " \n", + " An abnormal concentration of sodium in the urine.\n", + " definition of HP:0012603 (Abnormal urine sodium concentration)\n", + " \n", + " \n", + " #Abnormal urine Na concentration #Abnormal urine Na+ levels\n", + " definition of HP:0012603 (Abnormal urine sodium concentration)\n", + " \n", + " \n", + " Excessively loud speech\n", + " definition of HP:5200039 (Excessively loud speech)\n", + " \n", + " \n", + " Speech which is persistently abnormally and noticeably loud or high volume for the social and cultural context and is not due to a structural or muscular abnormality. Those around the person often consider them to be shouting.\n", + " definition of HP:5200039 (Excessively loud speech)\n", + " \n", + " \n", + " #Speech too loud for context\n", + " definition of HP:5200039 (Excessively loud speech)\n", + " \n", + " \n", + " Abnormal renal vascular morphology\n", + " definition of HP:0033835 (Abnormal renal vascular morphology)\n", + " \n", + " \n", + " Anomalous structure of a blood vessel in the kidney.\n", + " definition of HP:0033835 (Abnormal renal vascular morphology)\n", + " \n", + " \n", + " Rubeosis iridis\n", + " definition of HP:0011497 (Rubeosis iridis)\n", + " \n", + " \n", + " Formation of new blood vessels on the iris. The new vessels do not display the typical radially symmertic growth pattern of normal iris blood vessels, but rather appear disorganized. Rubeosis usually starts from the pupillary border with tiny tufts of dilated capillaries or red spots that can only be appreciated with high magnification.\n", + " definition of HP:0011497 (Rubeosis iridis)\n", + " \n", + " \n", + " #Iris neovascularization #Neovascularization of the iris #New blood vessel formation in iris\n", + " definition of HP:0011497 (Rubeosis iridis)\n", + " \n", + " \n", + " Chilblains\n", + " definition of HP:0009710 (Chilblains)\n", + " \n", + " \n", + " Chilblains, also called perniosis, are an inflammatory skin condition related to an abnormal vascular response to the cold. We are unaware of a reliable estimate of incidence. It typically presents as tender, pruritic red or bluish lesions located symmetrically on the dorsal aspect of the fingers, toes, ears and nose. Less commonly, reports describe involvement of the thighs and buttocks. The lesions present hours after exposure to cold and usually resolve spontaneously in one to three weeks.\n", + " definition of HP:0009710 (Chilblains)\n", + " \n", + " \n", + " #Chilblain lesions\n", + " definition of HP:0009710 (Chilblains)\n", + " \n", + " \n", + " Elevated circulating octenoylcarnitine concentration\n", + " definition of HP:0033440 (Elevated circulating octenoylcarnitine concentration)\n", + " \n", + " \n", + " Concentration of octenoylcarnitine in the blood circulation above the upper limit of normal.\n", + " definition of HP:0033440 (Elevated circulating octenoylcarnitine concentration)\n", + " \n", + " \n", + " #Elevated circulating C8:1 acylcarnitine concentration #Elevated circulating O-octenoylcarnitine concentration #Elevated plasma octenoylcarnitine, C8:1\n", + " definition of HP:0033440 (Elevated circulating octenoylcarnitine concentration)\n", + " \n", + " \n", + " Hyperpigmented/hypopigmented macules\n", + " definition of HP:0007441 (Hyperpigmented/hypopigmented macules)\n", + " \n", + " \n", + " Atrichia\n", + " definition of HP:0500262 (Atrichia)\n", + " \n", + " \n", + " The most dramatic and severe form of hair loss characterized by an absence of hair follicles.\n", + " definition of HP:0500262 (Atrichia)\n", + " \n", + " \n", + " Aplasia of the middle phalanx of the 2nd toe\n", + " definition of HP:0010434 (Aplasia of the middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Absent middle bone of 2nd toe\n", + " definition of HP:0010434 (Aplasia of the middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " Polycyclic\n", + " definition of HP:0031450 (Polycyclic)\n", + " \n", + " \n", + " A distribution of skin lesions resembling multiple merged circles. For instance, this can be seen with multiple urticarial wheals as the individual, circular wheals resolve and merge.\n", + " definition of HP:0031450 (Polycyclic)\n", + " \n", + " \n", + " Gray matter heterotopia\n", + " definition of HP:0002282 (Gray matter heterotopia)\n", + " \n", + " \n", + " Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter.\n", + " definition of HP:0002282 (Gray matter heterotopia)\n", + " \n", + " \n", + " #Gray matter heterotopias #Grey matter heterotopia #Grey matter heterotopias #Heterotopia #Heterotopias #Neuronal heterotopia\n", + " definition of HP:0002282 (Gray matter heterotopia)\n", + " \n", + " \n", + " Aplasia/Hypoplasia involving the shoulder musculature\n", + " definition of HP:0001464 (Aplasia/Hypoplasia involving the shoulder musculature)\n", + " \n", + " \n", + " Absence or underdevelopment of the muscles of the shoulder.\n", + " definition of HP:0001464 (Aplasia/Hypoplasia involving the shoulder musculature)\n", + " \n", + " \n", + " #Absent/small shoulder muscles #Absent/underdeveloped shoulder muscles\n", + " definition of HP:0001464 (Aplasia/Hypoplasia involving the shoulder musculature)\n", + " \n", + " \n", + " EBV meningitis\n", + " definition of HP:0033508 (EBV meningitis)\n", + " \n", + " \n", + " Inflammation of the meninges related to infection by Epstein-Barr virus.\n", + " definition of HP:0033508 (EBV meningitis)\n", + " \n", + " \n", + " #Epstein-Barr virus meningitis\n", + " definition of HP:0033508 (EBV meningitis)\n", + " \n", + " \n", + " Anophthalmia\n", + " definition of HP:0000528 (Anophthalmia)\n", + " \n", + " \n", + " Absence of the globe or eyeball.\n", + " definition of HP:0000528 (Anophthalmia)\n", + " \n", + " \n", + " #Absence of eyeballs #Absence of globes of eyes #Anophthalmia, clinical #Clinical anophthalmia, unilateral/bilateral #Failure of development of eyeball #Missing eyeball #Missing globe of eye #No eyeball #No globe of eye #Ocular absence\n", + " definition of HP:0000528 (Anophthalmia)\n", + " \n", + " \n", + " Flared femoral metaphysis\n", + " definition of HP:0002834 (Flared femoral metaphysis)\n", + " \n", + " \n", + " #Flared metaphysis of thigh bone\n", + " definition of HP:0002834 (Flared femoral metaphysis)\n", + " \n", + " \n", + " Fragmentation of the epiphysis of the distal phalanx of the 4th toe\n", + " definition of HP:0100173 (Fragmentation of the epiphysis of the distal phalanx of the 4th toe)\n", + " \n", + " \n", + " #Fragmentation of the end part of the outermost bone of the 4th toe\n", + " definition of HP:0100173 (Fragmentation of the epiphysis of the distal phalanx of the 4th toe)\n", + " \n", + " \n", + " Snout reflex\n", + " definition of HP:0030905 (Snout reflex)\n", + " \n", + " \n", + " A type of primitive reflex that is elicited by tapping the upper lip lightly. The contraction of the muscles causes the mouth to resemble a snout.\n", + " definition of HP:0030905 (Snout reflex)\n", + " \n", + " \n", + " Enlarged epiphyses of the 5th finger\n", + " definition of HP:0009385 (Enlarged epiphyses of the 5th finger)\n", + " \n", + " \n", + " Abnormally large size of the epiphyses of the 5th finger with respect to age-dependent norms.\n", + " definition of HP:0009385 (Enlarged epiphyses of the 5th finger)\n", + " \n", + " \n", + " #Enlarged end part of the little finger bones #Enlarged end part of the pinkie finger bones #Enlarged end part of the pinky finger bones\n", + " definition of HP:0009385 (Enlarged epiphyses of the 5th finger)\n", + " \n", + " \n", + " Subependymal nodules\n", + " definition of HP:0009716 (Subependymal nodules)\n", + " \n", + " \n", + " Small nodular masses which originate in the subependymal region of the lateral ventricles and protrude into the ventricular cavity. They may represent subependymal hamartomas of tuberous sclerosis.\n", + " definition of HP:0009716 (Subependymal nodules)\n", + " \n", + " \n", + " Increased susceptibility to spontaneous sister chromatid exchange\n", + " definition of HP:0010998 (Increased susceptibility to spontaneous sister chromatid exchange)\n", + " \n", + " \n", + " An increase in the number of spontaneous sister chromatid exchanges observed in cell culture of lymphocytes or other cells.\n", + " definition of HP:0010998 (Increased susceptibility to spontaneous sister chromatid exchange)\n", + " \n", + " \n", + " Head titubation\n", + " definition of HP:0002599 (Head titubation)\n", + " \n", + " \n", + " A head tremor of moderate speed (3 to 4 Hz) in the anterior-posterior direction.\n", + " definition of HP:0002599 (Head titubation)\n", + " \n", + " \n", + " Decreased urinary biopterin level\n", + " definition of HP:0040417 (Decreased urinary biopterin level)\n", + " \n", + " \n", + " The amount of biopterin in the urine, normalized for urine concentration, is below the lower limit of normal.\n", + " definition of HP:0040417 (Decreased urinary biopterin level)\n", + " \n", + " \n", + " Abnormal alpha-beta T cell morphology\n", + " definition of HP:0030333 (Abnormal alpha-beta T cell morphology)\n", + " \n", + " \n", + " A structuraly anomaly of T cells that express an alpha-beta T cell receptor.\n", + " definition of HP:0030333 (Abnormal alpha-beta T cell morphology)\n", + " \n", + " \n", + " Keratoglobus\n", + " definition of HP:0001119 (Keratoglobus)\n", + " \n", + " \n", + " Limbus-to-limbus corneal thinning, often greatest in the periphery, with globular protrusion of the cornea.\n", + " definition of HP:0001119 (Keratoglobus)\n", + " \n", + " \n", + " Entrapment neuropathy\n", + " definition of HP:0012181 (Entrapment neuropathy)\n", + " \n", + " \n", + " Malfunction of a peripheral nerve resulting from mechanical compression of the nerve roots from internal or external causes and leading to a conduction block or axonal loss.\n", + " definition of HP:0012181 (Entrapment neuropathy)\n", + " \n", + " \n", + " Decreased pyruvate carboxylase activity\n", + " definition of HP:0003209 (Decreased pyruvate carboxylase activity)\n", + " \n", + " \n", + " A decreased rate of pyruvate carboxylase activity.\n", + " definition of HP:0003209 (Decreased pyruvate carboxylase activity)\n", + " \n", + " \n", + " Abnormal protein N-linked glycosylation\n", + " definition of HP:0012347 (Abnormal protein N-linked glycosylation)\n", + " \n", + " \n", + " An anomaly of protein N-linked glycosylation, i.e., an abnormality of the protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via a nitrogen atom in an amino acid residue in a protein.\n", + " definition of HP:0012347 (Abnormal protein N-linked glycosylation)\n", + " \n", + " \n", + " Anti-dsDNA antibody positivity\n", + " definition of HP:0020151 (Anti-dsDNA antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against double-stranded DNA.\n", + " definition of HP:0020151 (Anti-dsDNA antibody positivity)\n", + " \n", + " \n", + " #Anti-double-stranded DNA antibody positivity\n", + " definition of HP:0020151 (Anti-dsDNA antibody positivity)\n", + " \n", + " \n", + " High nonceruloplasmin-bound serum copper\n", + " definition of HP:0010838 (High nonceruloplasmin-bound serum copper)\n", + " \n", + " \n", + " An increased concentration of non ceruloplasmin bound copper in the blood.\n", + " definition of HP:0010838 (High nonceruloplasmin-bound serum copper)\n", + " \n", + " \n", + " Supernumerary ribs\n", + " definition of HP:0005815 (Supernumerary ribs)\n", + " \n", + " \n", + " The presence of more than 12 rib pairs.\n", + " definition of HP:0005815 (Supernumerary ribs)\n", + " \n", + " \n", + " #Extra ribs\n", + " definition of HP:0005815 (Supernumerary ribs)\n", + " \n", + " \n", + " Hirano bodies\n", + " definition of HP:0100316 (Hirano bodies)\n", + " \n", + " \n", + " Intracellular aggregates of actin and actin-associated proteins within nerve cells.\n", + " definition of HP:0100316 (Hirano bodies)\n", + " \n", + " \n", + " Aculeiform cataract\n", + " definition of HP:0010926 (Aculeiform cataract)\n", + " \n", + " \n", + " A kind of nuclear cataract characterized by fiberglasslike or needlelike crystals projecting in different directions, through or close to the axial region of the lens.\n", + " definition of HP:0010926 (Aculeiform cataract)\n", + " \n", + " \n", + " #Fasciculiform cataract #Frosted cataract #Needle-shaped cataract\n", + " definition of HP:0010926 (Aculeiform cataract)\n", + " \n", + " \n", + " Broad neck\n", + " definition of HP:0000475 (Broad neck)\n", + " \n", + " \n", + " Increased side-to-side width of the neck.\n", + " definition of HP:0000475 (Broad neck)\n", + " \n", + " \n", + " #Broad neck #Increased width of neck #Wide neck\n", + " definition of HP:0000475 (Broad neck)\n", + " \n", + " \n", + " Abnormal circulating eicosanoid concentration\n", + " definition of HP:0030361 (Abnormal circulating eicosanoid concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration in the blood circulation of an icosanoid (also known as eicosanoids). These are signaling molecules derived from oxidation of 20-carbon fatty acids. Most are produced from arachidonic acid, a 20-carbon polyunsaturated fatty acid (5,8,11,14-eicosatetraenoic acid).\n", + " definition of HP:0030361 (Abnormal circulating eicosanoid concentration)\n", + " \n", + " \n", + " #Abnormality of icosanoid metabolism\n", + " definition of HP:0030361 (Abnormal circulating eicosanoid concentration)\n", + " \n", + " \n", + " Anti-Ro/SS-A antibody positivity\n", + " definition of HP:0033555 (Anti-Ro/SS-A antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies in the blood circulation that react against Ro/SSA autoantigens.\n", + " definition of HP:0033555 (Anti-Ro/SS-A antibody positivity)\n", + " \n", + " \n", + " #Anti-Ro/SSA antibody positivity\n", + " definition of HP:0033555 (Anti-Ro/SS-A antibody positivity)\n", + " \n", + " \n", + " Sural nerve atrophy\n", + " definition of HP:0032145 (Sural nerve atrophy)\n", + " \n", + " \n", + " Wasting of the sural nerve, a sensory nerve in the calf region of the leg.\n", + " definition of HP:0032145 (Sural nerve atrophy)\n", + " \n", + " \n", + " #Atrophy of sural nerve\n", + " definition of HP:0032145 (Sural nerve atrophy)\n", + " \n", + " \n", + " Addictive benzodiazepine use\n", + " definition of HP:0033516 (Addictive benzodiazepine use)\n", + " \n", + " \n", + " Addiction to a benzodiazepine.\n", + " definition of HP:0033516 (Addictive benzodiazepine use)\n", + " \n", + " \n", + " #Benzodiazepine dependence\n", + " definition of HP:0033516 (Addictive benzodiazepine use)\n", + " \n", + " \n", + " Decrease in high molecular weight von Willebrand factor Multimers\n", + " definition of HP:0040225 (Decrease in high molecular weight von Willebrand factor Multimers)\n", + " \n", + " \n", + " A decrease in high molecular weight von Willebrand factor multimers.\n", + " definition of HP:0040225 (Decrease in high molecular weight von Willebrand factor Multimers)\n", + " \n", + " \n", + " #Decrease in HMW VWF multimers\n", + " definition of HP:0040225 (Decrease in high molecular weight von Willebrand factor Multimers)\n", + " \n", + " \n", + " Agenesis of maxillary incisor\n", + " definition of HP:0200160 (Agenesis of maxillary incisor)\n", + " \n", + " \n", + " #Failure of development of maxillary incisor #Failure of development of upper incisor\n", + " definition of HP:0200160 (Agenesis of maxillary incisor)\n", + " \n", + " \n", + " Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries\n", + " definition of HP:0011678 (Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries)\n", + " \n", + " \n", + " A type of tetralogy of Fallot with pulmonary atresia in which all pulmonary blood flow is derived from major aortopulmonary collateral arteries (MAPCA).\n", + " definition of HP:0011678 (Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries)\n", + " \n", + " \n", + " Intellectual disability\n", + " definition of HP:0001249 (Intellectual disability)\n", + " \n", + " \n", + " Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.\n", + " definition of HP:0001249 (Intellectual disability)\n", + " \n", + " \n", + " #Intellectual disability #Mental deficiency #Mental retardation #Mental retardation, nonspecific #Mental-retardation #Nonprogressive intellectual disability #Nonprogressive mental retardation\n", + " definition of HP:0001249 (Intellectual disability)\n", + " \n", + " \n", + " Nevus flammeus\n", + " definition of HP:0001052 (Nevus flammeus)\n", + " \n", + " \n", + " A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin.\n", + " definition of HP:0001052 (Nevus flammeus)\n", + " \n", + " \n", + " #Nevus simplex #port-wine stain\n", + " definition of HP:0001052 (Nevus flammeus)\n", + " \n", + " \n", + " Compensatory chin elevation\n", + " definition of HP:0001477 (Compensatory chin elevation)\n", + " \n", + " \n", + " A tendency to hold the chin elevated by about 20 to 30 degrees to compensate for a limitation of eye movement.\n", + " definition of HP:0001477 (Compensatory chin elevation)\n", + " \n", + " \n", + " #Compensatory head tilt/chin elevation\n", + " definition of HP:0001477 (Compensatory chin elevation)\n", + " \n", + " \n", + " Broad secondary alveolar ridge\n", + " definition of HP:0000216 (Broad secondary alveolar ridge)\n", + " \n", + " \n", + " #Secondary alveolar ridges\n", + " definition of HP:0000216 (Broad secondary alveolar ridge)\n", + " \n", + " \n", + " Short first metatarsal\n", + " definition of HP:0010105 (Short first metatarsal)\n", + " \n", + " \n", + " Short first metatarsal bone.\n", + " definition of HP:0010105 (Short first metatarsal)\n", + " \n", + " \n", + " #First metatarsal hypoplasia #First metatarsals hypoplastic #Short 1st long bone of foot\n", + " definition of HP:0010105 (Short first metatarsal)\n", + " \n", + " \n", + " Anti-contactin-1 antibody positivity\n", + " definition of HP:0034137 (Anti-contactin-1 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against CNTN1.\n", + " definition of HP:0034137 (Anti-contactin-1 antibody positivity)\n", + " \n", + " \n", + " #Anti-CNTN1 antibody positivity\n", + " definition of HP:0034137 (Anti-contactin-1 antibody positivity)\n", + " \n", + " \n", + " White eyelashes\n", + " definition of HP:0002227 (White eyelashes)\n", + " \n", + " \n", + " White color (lack of pigmentation) of the eyelashes.\n", + " definition of HP:0002227 (White eyelashes)\n", + " \n", + " \n", + " #Blonde eyelashes #Depigmented eyelashes #Pale eyelashes #White eyelashes\n", + " definition of HP:0002227 (White eyelashes)\n", + " \n", + " \n", + " Hydrocele testis\n", + " definition of HP:0000034 (Hydrocele testis)\n", + " \n", + " \n", + " Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis.\n", + " definition of HP:0000034 (Hydrocele testis)\n", + " \n", + " \n", + " #Testicular hydrocele\n", + " definition of HP:0000034 (Hydrocele testis)\n", + " \n", + " \n", + " Spherophakia\n", + " definition of HP:0034375 (Spherophakia)\n", + " \n", + " \n", + " Spherophakia is a rare congenital condition that presents with weak zonules around a more spherical crystalline lens with an increased anteroposterior thickness of the lens, and highly myopic eye. The lens zonules are developmentally hypoplastic and abnormally weak and due to non-attachment of the posterior zonules to the equatorial zone of the lens, the lens changes its normal shape to spherical.\n", + " definition of HP:0034375 (Spherophakia)\n", + " \n", + " \n", + " Reduced hepatic phosphorylase kinase activity\n", + " definition of HP:6000333 (Reduced hepatic phosphorylase kinase activity)\n", + " \n", + " \n", + " Activity of phosphorylase kinase in liver tissue below the lower limit of normal. Phosphorylase kinase (PhK) has a major regulatory role in the breakdown of glycogen. The enzyme PhK comprises four copies each of four subunits, encoded by PHKA1, PHKA2, PHKB, and PHKG.\n", + " definition of HP:6000333 (Reduced hepatic phosphorylase kinase activity)\n", + " \n", + " \n", + " #Decreased hepatic phosphorylase kinase activity\n", + " definition of HP:6000333 (Reduced hepatic phosphorylase kinase activity)\n", + " \n", + " \n", + " Cubitus valgus\n", + " definition of HP:0002967 (Cubitus valgus)\n", + " \n", + " \n", + " Abnormal positioning in which the elbows are turned out.\n", + " definition of HP:0002967 (Cubitus valgus)\n", + " \n", + " \n", + " #Outward turned elbows\n", + " definition of HP:0002967 (Cubitus valgus)\n", + " \n", + " \n", + " Congenital ichthyosiform erythroderma\n", + " definition of HP:0007431 (Congenital ichthyosiform erythroderma)\n", + " \n", + " \n", + " An ichthyosiform abnormality of the skin with congenital onset.\n", + " definition of HP:0007431 (Congenital ichthyosiform erythroderma)\n", + " \n", + " \n", + " #Congenital ichthyosis #Ichthyosis, congenital\n", + " definition of HP:0007431 (Congenital ichthyosiform erythroderma)\n", + " \n", + " \n", + " Irregular ossification of humeral metaphyses\n", + " definition of HP:0003914 (Irregular ossification of humeral metaphyses)\n", + " \n", + " \n", + " #Irregular bone maturation of the wide portion of the long bone in upper arm\n", + " definition of HP:0003914 (Irregular ossification of humeral metaphyses)\n", + " \n", + " \n", + " Irregular carpal bones\n", + " definition of HP:0004236 (Irregular carpal bones)\n", + " \n", + " \n", + " Carpal bones with irregular or fragmented margins.\n", + " definition of HP:0004236 (Irregular carpal bones)\n", + " \n", + " \n", + " Abnormality of skull size\n", + " definition of HP:0000240 (Abnormality of skull size)\n", + " \n", + " \n", + " Any abnormality of the size of the skull.\n", + " definition of HP:0000240 (Abnormality of skull size)\n", + " \n", + " \n", + " #Abnormality of cranium size #Abnormality of skull size\n", + " definition of HP:0000240 (Abnormality of skull size)\n", + " \n", + " \n", + " Functional abnormality of the gastrointestinal tract\n", + " definition of HP:0012719 (Functional abnormality of the gastrointestinal tract)\n", + " \n", + " \n", + " Abnormal functionality of the gastrointestinal tract.\n", + " definition of HP:0012719 (Functional abnormality of the gastrointestinal tract)\n", + " \n", + " \n", + " #Functional abnormality of the GI tract #GI dysfunction\n", + " definition of HP:0012719 (Functional abnormality of the gastrointestinal tract)\n", + " \n", + " \n", + " Curvilinear intracellular accumulation of autofluorescent lipopigment storage material\n", + " definition of HP:0003205 (Curvilinear intracellular accumulation of autofluorescent lipopigment storage material)\n", + " \n", + " \n", + " An intracellular accumulation of autofluorescent lipopigment storage material in a curved pattern.\n", + " definition of HP:0003205 (Curvilinear intracellular accumulation of autofluorescent lipopigment storage material)\n", + " \n", + " \n", + " #Curvilinear profiles ultrastructurally #Curvilinear profiles ultrastructurally in cells #Intracellular curvilinear profiles on ultrastructural analysis\n", + " definition of HP:0003205 (Curvilinear intracellular accumulation of autofluorescent lipopigment storage material)\n", + " \n", + " \n", + " Osteoporotic tarsals\n", + " definition of HP:0008076 (Osteoporotic tarsals)\n", + " \n", + " \n", + " Reduction in bone mineral density affecting any or all of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.\n", + " definition of HP:0008076 (Osteoporotic tarsals)\n", + " \n", + " \n", + " Diminishment of social interactions\n", + " definition of HP:5200310 (Diminishment of social interactions)\n", + " \n", + " \n", + " A reduction in the tendency of a person to seek or maintain social connections or interactions with others compared to previous norms for an individual.\n", + " definition of HP:5200310 (Diminishment of social interactions)\n", + " \n", + " \n", + " #Reduced, declined or lessened social interactions\n", + " definition of HP:5200310 (Diminishment of social interactions)\n", + " \n", + " \n", + " Thumb hypoplasia grade 2\n", + " definition of HP:6000939 (Thumb hypoplasia grade 2)\n", + " \n", + " \n", + " A type of developmental undergrowth of the thumb, whereby all of the osseous structures are present (may be small), and there is metacarpophalangeal joint ulnar collateral ligament instability and thenar hypoplasia.\n", + " definition of HP:6000939 (Thumb hypoplasia grade 2)\n", + " \n", + " \n", + " #Hypoplasia of the thumb grade 2\n", + " definition of HP:6000939 (Thumb hypoplasia grade 2)\n", + " \n", + " \n", + " Anomalous rib insertion to vertebrae\n", + " definition of HP:0006593 (Anomalous rib insertion to vertebrae)\n", + " \n", + " \n", + " Aplasia/hypoplasia involving the skeleton\n", + " definition of HP:0009115 (Aplasia/hypoplasia involving the skeleton)\n", + " \n", + " \n", + " Absence (due to failure to form) or underdevelopment of one or more components of the skeleton.\n", + " definition of HP:0009115 (Aplasia/hypoplasia involving the skeleton)\n", + " \n", + " \n", + " #Absent/small skeleton #Absent/underdeveloped skeleton\n", + " definition of HP:0009115 (Aplasia/hypoplasia involving the skeleton)\n", + " \n", + " \n", + " Elevated circulating growth hormone-releasing hormone concentration\n", + " definition of HP:0034898 (Elevated circulating growth hormone-releasing hormone concentration)\n", + " \n", + " \n", + " Concentration of growth hormone-releasing hormone above the upper limit of normal in the blood circulation.\n", + " definition of HP:0034898 (Elevated circulating growth hormone-releasing hormone concentration)\n", + " \n", + " \n", + " Aortic valve leaflet calcification\n", + " definition of HP:0033641 (Aortic valve leaflet calcification)\n", + " \n", + " \n", + " Deposition of calcium salts in the leaflets (cusps) of the aortic valve.\n", + " definition of HP:0033641 (Aortic valve leaflet calcification)\n", + " \n", + " \n", + " #Aortic cusp calcification #Aortic valve cusp calcification\n", + " definition of HP:0033641 (Aortic valve leaflet calcification)\n", + " \n", + " \n", + " Cervical kyphosis\n", + " definition of HP:0002947 (Cervical kyphosis)\n", + " \n", + " \n", + " Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance.\n", + " definition of HP:0002947 (Cervical kyphosis)\n", + " \n", + " \n", + " #Rounded neck\n", + " definition of HP:0002947 (Cervical kyphosis)\n", + " \n", + " \n", + " Angulated muscle fibers\n", + " definition of HP:0034045 (Angulated muscle fibers)\n", + " \n", + " \n", + " Normal muscle fibers are polygonal-shaped in cross section, are multinucleated, and have minimal amounts of endomysial connective tissue. In contrast, angulated (also known as angular) muscle fibers have long and narrow vertices (corners) with sharp edges and a pointed tip.\n", + " definition of HP:0034045 (Angulated muscle fibers)\n", + " \n", + " \n", + " #Angular muscle fibers #Angular muscle fibres\n", + " definition of HP:0034045 (Angulated muscle fibers)\n", + " \n", + " \n", + " Decreased circulating level of specific antibody\n", + " definition of HP:0012475 (Decreased circulating level of specific antibody)\n", + " \n", + " \n", + " The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against a specific antigen or microorganism.\n", + " definition of HP:0012475 (Decreased circulating level of specific antibody)\n", + " \n", + " \n", + " #Abnormal specific antibody response #Decreased specific antibody in blood #Specific antibody deficiency\n", + " definition of HP:0012475 (Decreased circulating level of specific antibody)\n", + " \n", + " \n", + " Malar rash\n", + " definition of HP:0025300 (Malar rash)\n", + " \n", + " \n", + " An erythematous (red), flat facial rash that affects the skin in the malar area (over the cheekbones) and extends over the bridge of the nose.\n", + " definition of HP:0025300 (Malar rash)\n", + " \n", + " \n", + " #Butterfly rash #Cheekbone rash\n", + " definition of HP:0025300 (Malar rash)\n", + " \n", + " \n", + " Abnormal circulating calcium-phosphate regulating hormone concentration\n", + " definition of HP:0100530 (Abnormal circulating calcium-phosphate regulating hormone concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration in the blood circulation of a hormone that is involved in the regulation of phosphate and calcium.\n", + " definition of HP:0100530 (Abnormal circulating calcium-phosphate regulating hormone concentration)\n", + " \n", + " \n", + " #Abnormal Ca-PHOS regulating hormone level #Abnormal Ca2+ PO4 regulating hormone level\n", + " definition of HP:0100530 (Abnormal circulating calcium-phosphate regulating hormone concentration)\n", + " \n", + " \n", + " Anterior chamber cells grade 3+\n", + " definition of HP:0025565 (Anterior chamber cells grade 3+)\n", + " \n", + " \n", + " Anterior chamber cells with 26-50 cells in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.\n", + " definition of HP:0025565 (Anterior chamber cells grade 3+)\n", + " \n", + " \n", + " Triggered by heavy meal\n", + " definition of HP:0025216 (Triggered by heavy meal)\n", + " \n", + " \n", + " Applies to a sign or symptom that is provoked or brought about by eating large quantities of food, for instance, by a heavy meal.\n", + " definition of HP:0025216 (Triggered by heavy meal)\n", + " \n", + " \n", + " #Heavy meal triggered symptoms #Triggered by overeating\n", + " definition of HP:0025216 (Triggered by heavy meal)\n", + " \n", + " \n", + " Complete duplication of the proximal phalanx of the 5th finger\n", + " definition of HP:0009993 (Complete duplication of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " Complete duplication of the fifth proximal phalanx of hand.\n", + " definition of HP:0009993 (Complete duplication of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " #Complete duplication of the innermost little finger bone #Complete duplication of the innermost pinkie finger bone #Complete duplication of the innermost pinky finger bone\n", + " definition of HP:0009993 (Complete duplication of the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " Partial duplication of the phalanges of the 5th finger\n", + " definition of HP:0009987 (Partial duplication of the phalanges of the 5th finger)\n", + " \n", + " \n", + " A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the 5th finger. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.\n", + " definition of HP:0009987 (Partial duplication of the phalanges of the 5th finger)\n", + " \n", + " \n", + " #Partial duplication of the little finger bone #Partial duplication of the pinkie finger bone #Partial duplication of the pinky finger bone\n", + " definition of HP:0009987 (Partial duplication of the phalanges of the 5th finger)\n", + " \n", + " \n", + " Short mandibular condyles\n", + " definition of HP:0005790 (Short mandibular condyles)\n", + " \n", + " \n", + " #Bilateral hypoplasia of condylar process of mandible #Bilateral hypoplasia of mandibular condylar head #Bilateral hypoplasia of mandibular condylar neck #Decreased height of condylar process of mandible #Decreased length of condylar process of mandible #Short condylar process of mandible\n", + " definition of HP:0005790 (Short mandibular condyles)\n", + " \n", + " \n", + " Absent Birbeck granules in Langerhans cells\n", + " definition of HP:0031872 (Absent Birbeck granules in Langerhans cells)\n", + " \n", + " \n", + " Birbeck granules (BG) are cytoplasmic organelles that are only found in Langerhans cells (LC). The function of BG is still not completely understood, although most studies point toward an active role in receptor-mediated endocytosis and participation in the antigen-processing/presenting function of LC. This feature refers to the absence of BG in LC, a feature that can be documented by means of electron microscopy.\n", + " definition of HP:0031872 (Absent Birbeck granules in Langerhans cells)\n", + " \n", + " \n", + " Reduced tissue medium-chain acyl-CoA dehydrogenase activity\n", + " definition of HP:6000356 (Reduced tissue medium-chain acyl-CoA dehydrogenase activity)\n", + " \n", + " \n", + " Concentration or activity of medium-chain acyl-CoA dehydrogenase (EC 1.3.8.7;MCAD) in tissues is below the lower limit of normal.\n", + " definition of HP:6000356 (Reduced tissue medium-chain acyl-CoA dehydrogenase activity)\n", + " \n", + " \n", + " #Reduced MCAD activity in cultured fibroblasts #Reduced medium-chain acyl-CoA dehydrogenase activity in cultured fibroblasts\n", + " definition of HP:6000356 (Reduced tissue medium-chain acyl-CoA dehydrogenase activity)\n", + " \n", + " \n", + " Hypoplastic labia majora\n", + " definition of HP:0000059 (Hypoplastic labia majora)\n", + " \n", + " \n", + " Undergrowth of the outer labia.\n", + " definition of HP:0000059 (Hypoplastic labia majora)\n", + " \n", + " \n", + " #Hypoplasia of labia majora #Small labia majora #Underdeveloped vaginal lips\n", + " definition of HP:0000059 (Hypoplastic labia majora)\n", + " \n", + " \n", + " Broad middle phalanges of the toes\n", + " definition of HP:0010195 (Broad middle phalanges of the toes)\n", + " \n", + " \n", + " #Broad middle bones of the toes\n", + " definition of HP:0010195 (Broad middle phalanges of the toes)\n", + " \n", + " \n", + " Deuteranomaly\n", + " definition of HP:0011520 (Deuteranomaly)\n", + " \n", + " \n", + " A type of anomalous trichromacy associated with abnormal M photopigment, such that the absorption spectrum is shifted toward L wavelengths. Affected individuals have difficulties distinguishing between red and green.\n", + " definition of HP:0011520 (Deuteranomaly)\n", + " \n", + " \n", + " #Deuteranomoly #Green-weak\n", + " definition of HP:0011520 (Deuteranomaly)\n", + " \n", + " \n", + " Gottron's papules\n", + " definition of HP:0025508 (Gottron's papules)\n", + " \n", + " \n", + " Violaceous papules overlying the dorsal and lateral aspects of the metacarpophalangeal and proximal interphalangeal joints.\n", + " definition of HP:0025508 (Gottron's papules)\n", + " \n", + " \n", + " #Gottron papules\n", + " definition of HP:0025508 (Gottron's papules)\n", + " \n", + " \n", + " Chronic colitis\n", + " definition of HP:0100281 (Chronic colitis)\n", + " \n", + " \n", + " A chronic inflammatory disease of the large intestine (colon, cecum and rectum).\n", + " definition of HP:0100281 (Chronic colitis)\n", + " \n", + " \n", + " Absent epiphyses of the middle phalanges of the hand\n", + " definition of HP:0010257 (Absent epiphyses of the middle phalanges of the hand)\n", + " \n", + " \n", + " #Absent end part of the middle hand bones\n", + " definition of HP:0010257 (Absent epiphyses of the middle phalanges of the hand)\n", + " \n", + " \n", + " Multiple pancreatic beta-cell adenomas\n", + " definition of HP:0008194 (Multiple pancreatic beta-cell adenomas)\n", + " \n", + " \n", + " The presence of multiple pancreatic islet cell adenomas.\n", + " definition of HP:0008194 (Multiple pancreatic beta-cell adenomas)\n", + " \n", + " \n", + " Curved distal phalanx of the thumb\n", + " definition of HP:0009644 (Curved distal phalanx of the thumb)\n", + " \n", + " \n", + " A deviation from the normal straight shape of the distal phalanx of the thumb.\n", + " definition of HP:0009644 (Curved distal phalanx of the thumb)\n", + " \n", + " \n", + " #Curved outermost bone of the thumb\n", + " definition of HP:0009644 (Curved distal phalanx of the thumb)\n", + " \n", + " \n", + " Pulmonary venous occlusion\n", + " definition of HP:0006518 (Pulmonary venous occlusion)\n", + " \n", + " \n", + " Substantial narrowing or blockage of small pulmonary veins as a result of disorganized smooth muscle hypertrophy and collagen matrix deposition.\n", + " definition of HP:0006518 (Pulmonary venous occlusion)\n", + " \n", + " \n", + " #Pulmonary venous stenosis\n", + " definition of HP:0006518 (Pulmonary venous occlusion)\n", + " \n", + " \n", + " Osteolytic defects of the distal phalanges of the toes\n", + " definition of HP:0010189 (Osteolytic defects of the distal phalanges of the toes)\n", + " \n", + " \n", + " Absent pigmentation of the limbs\n", + " definition of HP:0012320 (Absent pigmentation of the limbs)\n", + " \n", + " \n", + " Lack of skin pigmentation (coloring) of the arms and legs.\n", + " definition of HP:0012320 (Absent pigmentation of the limbs)\n", + " \n", + " \n", + " Moderately reduced contrast sensitivity\n", + " definition of HP:0032109 (Moderately reduced contrast sensitivity)\n", + " \n", + " \n", + " A moderate reduction in the ability to perceive visual contrast characterized by 0.60-0.99 log unit contrast sensitivity loss.\n", + " definition of HP:0032109 (Moderately reduced contrast sensitivity)\n", + " \n", + " \n", + " #Moderate reduction in contrast sensitivity\n", + " definition of HP:0032109 (Moderately reduced contrast sensitivity)\n", + " \n", + " \n", + " Downgaze palsy\n", + " definition of HP:0025330 (Downgaze palsy)\n", + " \n", + " \n", + " A limitation of the ability to direct one's gaze below the horizontal meridian.\n", + " definition of HP:0025330 (Downgaze palsy)\n", + " \n", + " \n", + " #Downgaze paresis #Supranuclear downgaze palsy\n", + " definition of HP:0025330 (Downgaze palsy)\n", + " \n", + " \n", + " Abnormal epididymis morphology\n", + " definition of HP:0009714 (Abnormal epididymis morphology)\n", + " \n", + " \n", + " An abnormality of the epididymis.\n", + " definition of HP:0009714 (Abnormal epididymis morphology)\n", + " \n", + " \n", + " #Abnormality of the epididymis\n", + " definition of HP:0009714 (Abnormal epididymis morphology)\n", + " \n", + " \n", + " Type C brachydactyly\n", + " definition of HP:0009373 (Type C brachydactyly)\n", + " \n", + " \n", + " Aplasia of the eccrine sweat glands\n", + " definition of HP:0040042 (Aplasia of the eccrine sweat glands)\n", + " \n", + " \n", + " #Absent eccrine sweat glands\n", + " definition of HP:0040042 (Aplasia of the eccrine sweat glands)\n", + " \n", + " \n", + " Reduced responsiveness to social cues\n", + " definition of HP:5200028 (Reduced responsiveness to social cues)\n", + " \n", + " \n", + " A tendency to display responces to social cues that are interpreted (e.g., by family members, peers, or caregivers) as diminished compared to what would be expected based on the developmental stage and cultural context of an individual.\n", + " definition of HP:5200028 (Reduced responsiveness to social cues)\n", + " \n", + " \n", + " #Reduced response to social cues\n", + " definition of HP:5200028 (Reduced responsiveness to social cues)\n", + " \n", + " \n", + " Cone-shaped epiphyses of the phalanges of the hand\n", + " definition of HP:0010230 (Cone-shaped epiphyses of the phalanges of the hand)\n", + " \n", + " \n", + " A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.\n", + " definition of HP:0010230 (Cone-shaped epiphyses of the phalanges of the hand)\n", + " \n", + " \n", + " #Cone-shaped end part of finger bones #Cone-shaped epiphyses of hand #Cone-shaped epiphyses of the fingers #Coned epiphyses of hands #Conical phalangeal epiphyses\n", + " definition of HP:0010230 (Cone-shaped epiphyses of the phalanges of the hand)\n", + " \n", + " \n", + " Distal tibiofibular synostosis\n", + " definition of HP:6000650 (Distal tibiofibular synostosis)\n", + " \n", + " \n", + " Fusion of the distal (i.e.., located away from the trunk) part of the tibia and fibula.\n", + " definition of HP:6000650 (Distal tibiofibular synostosis)\n", + " \n", + " \n", + " #Distal tibial and fibular fusion\n", + " definition of HP:6000650 (Distal tibiofibular synostosis)\n", + " \n", + " \n", + " Abnormal pattern electroretinogram\n", + " definition of HP:0030467 (Abnormal pattern electroretinogram)\n", + " \n", + " \n", + " An anomalous response to a pattern electroretinogram (PERG), a particular kind of ERG obtained in response to contrast modulation of patterned visual stimuli at constant mean luminance-typically contrast-reversing gratings or checkerboards-whose characteristics are fundamentally different from those of the traditional ERG in response to diffuse flashes of light.\n", + " definition of HP:0030467 (Abnormal pattern electroretinogram)\n", + " \n", + " \n", + " Palmoplantar scaling skin\n", + " definition of HP:0025524 (Palmoplantar scaling skin)\n", + " \n", + " \n", + " Loss of the outer layer of the epidermis in large, scale-like flakes localized to the palm of the hand and the sole of the foot.\n", + " definition of HP:0025524 (Palmoplantar scaling skin)\n", + " \n", + " \n", + " Gonadal hypoplasia\n", + " definition of HP:0008639 (Gonadal hypoplasia)\n", + " \n", + " \n", + " #Underdeveloped gonad\n", + " definition of HP:0008639 (Gonadal hypoplasia)\n", + " \n", + " \n", + " Absent ethmoidal sinuses\n", + " definition of HP:0005456 (Absent ethmoidal sinuses)\n", + " \n", + " \n", + " Lack (aplasia) of the ethmoidal sinus.\n", + " definition of HP:0005456 (Absent ethmoidal sinuses)\n", + " \n", + " \n", + " #Agenesis of ethmoid sinuses #Failure of development of ethmoid sinuses #Missing ethmoid sinuses\n", + " definition of HP:0005456 (Absent ethmoidal sinuses)\n", + " \n", + " \n", + " Splenopancreatic fusion\n", + " definition of HP:0032075 (Splenopancreatic fusion)\n", + " \n", + " \n", + " Fusion of the pancreatic tail and spleen.\n", + " definition of HP:0032075 (Splenopancreatic fusion)\n", + " \n", + " \n", + " Acidosis\n", + " definition of HP:0001941 (Acidosis)\n", + " \n", + " \n", + " Abnormal acid accumulation or depletion of base.\n", + " definition of HP:0001941 (Acidosis)\n", + " \n", + " \n", + " Triggered by medication exposure\n", + " definition of HP:0034826 (Triggered by medication exposure)\n", + " \n", + " \n", + " Applies to a sign or symptom that is provoked or brought about by administration of a medication.\n", + " definition of HP:0034826 (Triggered by medication exposure)\n", + " \n", + " \n", + " Koeppe nodules\n", + " definition of HP:0034820 (Koeppe nodules)\n", + " \n", + " \n", + " A type of iris nodule consisting of inflammatory cell precipitates which lie at the pupillary margin.\n", + " definition of HP:0034820 (Koeppe nodules)\n", + " \n", + " \n", + " #Koeppe iris nodules #Koeppe's nodules\n", + " definition of HP:0034820 (Koeppe nodules)\n", + " \n", + " \n", + " Hypoplastic lacrimal duct\n", + " definition of HP:0007900 (Hypoplastic lacrimal duct)\n", + " \n", + " \n", + " #Underdeveloped tear duct\n", + " definition of HP:0007900 (Hypoplastic lacrimal duct)\n", + " \n", + " \n", + " Increased myocardial pyrophosphate uptake\n", + " definition of HP:6000067 (Increased myocardial pyrophosphate uptake)\n", + " \n", + " \n", + " Amount of pyrophosphate uptake by the myocardium as demonstrated by by technetium pyrophosphate (99mTc-PYP) scintigraphy above the upper limit of normal.\n", + " definition of HP:6000067 (Increased myocardial pyrophosphate uptake)\n", + " \n", + " \n", + " Abnormality of the thoracic cavity\n", + " definition of HP:0045027 (Abnormality of the thoracic cavity)\n", + " \n", + " \n", + " Bracket epiphyses\n", + " definition of HP:0010578 (Bracket epiphyses)\n", + " \n", + " \n", + " #Bracket shaped end part of long bone\n", + " definition of HP:0010578 (Bracket epiphyses)\n", + " \n", + " \n", + " Anti-tyrosine phosphatase region of islet antigen-2 antibody positivity\n", + " definition of HP:0034158 (Anti-tyrosine phosphatase region of islet antigen-2 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against the tyrosine phossphatase region of islet antigen 2A (this region is a specific part of IA-2). Usually IA-2A are measured using the intracellular portion of IA-2 (IA-2ic) made up of the protein tyrosine phosphatase (PTP) and juxtamembrane (JM) regions.\n", + " definition of HP:0034158 (Anti-tyrosine phosphatase region of islet antigen-2 antibody positivity)\n", + " \n", + " \n", + " #Anti-PTPA antibody positivity\n", + " definition of HP:0034158 (Anti-tyrosine phosphatase region of islet antigen-2 antibody positivity)\n", + " \n", + " \n", + " Thick vermilion border\n", + " definition of HP:0012471 (Thick vermilion border)\n", + " \n", + " \n", + " Increased width of the skin of vermilion border region of upper lip.\n", + " definition of HP:0012471 (Thick vermilion border)\n", + " \n", + " \n", + " #Full lips #Increased volume of lip #Increased volume of lip vermillion #Plump lips #Prominent lips #Thick lips\n", + " definition of HP:0012471 (Thick vermilion border)\n", + " \n", + " \n", + " Anti-carbonic anhydrase VI antibody positivity\n", + " definition of HP:0034066 (Anti-carbonic anhydrase VI antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against carbonic anhydrase VI.\n", + " definition of HP:0034066 (Anti-carbonic anhydrase VI antibody positivity)\n", + " \n", + " \n", + " #Anti-CA6 antibody positivity\n", + " definition of HP:0034066 (Anti-carbonic anhydrase VI antibody positivity)\n", + " \n", + " \n", + " Arterial stenosis\n", + " definition of HP:0100545 (Arterial stenosis)\n", + " \n", + " \n", + " Narrowing or constriction of the inner surface (lumen) of an artery.\n", + " definition of HP:0100545 (Arterial stenosis)\n", + " \n", + " \n", + " #Narrowing of an artery\n", + " definition of HP:0100545 (Arterial stenosis)\n", + " \n", + " \n", + " Absent fetal nasal bone\n", + " definition of HP:0025706 (Absent fetal nasal bone)\n", + " \n", + " \n", + " The nasal bone is considered absent when it is not visualized on a midsagittal view of the profile. In the second trimester, a true midsagittal view of the fetal profile is obtained and magnified to fill the majority of the image space. The nasal bone appears as an echogenic linear structure below the skin edge. The optimal angle of insonation is 45 degrees to the longitudinal axis of the fetal nasal bone. If the angle of insonation is 0 or 180 degrees, the nasal bone may appear artificially absent. The presence or absence of the nasal bone may be determined at the time of the 11- to 14-week ultrasound examination and used as part of the risk assessment for aneuploidy.\n", + " definition of HP:0025706 (Absent fetal nasal bone)\n", + " \n", + " \n", + " #Absence of fetal nasal bone #Absence of foetal nasal bone #Unossified nasal bone\n", + " definition of HP:0025706 (Absent fetal nasal bone)\n", + " \n", + " \n", + " Persistent repetition of sounds\n", + " definition of HP:0031431 (Persistent repetition of sounds)\n", + " \n", + " \n", + " Repetition of sounds with no meaning.\n", + " definition of HP:0031431 (Persistent repetition of sounds)\n", + " \n", + " \n", + " Reduced muscle laminin alpha-2 chain staining\n", + " definition of HP:0034828 (Reduced muscle laminin alpha-2 chain staining)\n", + " \n", + " \n", + " A decreased amount of laminin alpha-2 chain in muscle tissue. This feature can be shown by immunohistochemistry or Western blotting of muscle tissue.\n", + " definition of HP:0034828 (Reduced muscle laminin alpha-2 chain staining)\n", + " \n", + " \n", + " Abnormal alcohol consumption\n", + " definition of HP:0430037 (Abnormal alcohol consumption)\n", + " \n", + " \n", + " Alcohol abuse or dependence.\n", + " definition of HP:0430037 (Abnormal alcohol consumption)\n", + " \n", + " \n", + " Medially flattened radial epiphyses\n", + " definition of HP:0004003 (Medially flattened radial epiphyses)\n", + " \n", + " \n", + " Underdeveloped tragus\n", + " definition of HP:0011272 (Underdeveloped tragus)\n", + " \n", + " \n", + " Decreased posterolateral protrusion of the tragus.\n", + " definition of HP:0011272 (Underdeveloped tragus)\n", + " \n", + " \n", + " #Hypoplastic tragus #Hypotrophic tragus #Small tragus\n", + " definition of HP:0011272 (Underdeveloped tragus)\n", + " \n", + " \n", + " Polyembolokoilamania\n", + " definition of HP:0032508 (Polyembolokoilamania)\n", + " \n", + " \n", + " Habitual insertion of foreign bodies into bodily orifices.\n", + " definition of HP:0032508 (Polyembolokoilamania)\n", + " \n", + " \n", + " Anomalous origin of the left common carotid artery from the main pulmonary artery\n", + " definition of HP:0031634 (Anomalous origin of the left common carotid artery from the main pulmonary artery)\n", + " \n", + " \n", + " The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the main pulmonary artery.\n", + " definition of HP:0031634 (Anomalous origin of the left common carotid artery from the main pulmonary artery)\n", + " \n", + " \n", + " Patchy sclerosis of the distal phalanx of the 4th toe\n", + " definition of HP:0100468 (Patchy sclerosis of the distal phalanx of the 4th toe)\n", + " \n", + " \n", + " Uneven increase in bone density of the distal phalanx of the fourth toe. This can take on many forms depending on severity and distribution as can be seen on x-rays.\n", + " definition of HP:0100468 (Patchy sclerosis of the distal phalanx of the 4th toe)\n", + " \n", + " \n", + " #Uneven increase in bone density in the outermost bone of the 4th toe\n", + " definition of HP:0100468 (Patchy sclerosis of the distal phalanx of the 4th toe)\n", + " \n", + " \n", + " Abnormal auditory evoked potentials\n", + " definition of HP:0006958 (Abnormal auditory evoked potentials)\n", + " \n", + " \n", + " An abnormality of the auditory evoked potentials, which are used to trace the signal generated by a sound, from the cochlear nerve, through the lateral lemniscus, to the medial geniculate nucleus, and to the cortex.\n", + " definition of HP:0006958 (Abnormal auditory evoked potentials)\n", + " \n", + " \n", + " #Abnormal brainstem auditory-evoked potentials\n", + " definition of HP:0006958 (Abnormal auditory evoked potentials)\n", + " \n", + " \n", + " Abnormal nervous system physiology\n", + " definition of HP:0012638 (Abnormal nervous system physiology)\n", + " \n", + " \n", + " A functional anomaly of the nervous system.\n", + " definition of HP:0012638 (Abnormal nervous system physiology)\n", + " \n", + " \n", + " #Abnormality of nervous system physiology\n", + " definition of HP:0012638 (Abnormal nervous system physiology)\n", + " \n", + " \n", + " Renal arteriole foam cell endoarterial hypercellularity\n", + " definition of HP:0033923 (Renal arteriole foam cell endoarterial hypercellularity)\n", + " \n", + " \n", + " A type of renal arteriole leukocytic endoarterial hypercellularity due to the presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in arteriolar lumen.\n", + " definition of HP:0033923 (Renal arteriole foam cell endoarterial hypercellularity)\n", + " \n", + " \n", + " #Endoarterial hypercellularity within arterioles consisting of foam cells\n", + " definition of HP:0033923 (Renal arteriole foam cell endoarterial hypercellularity)\n", + " \n", + " \n", + " Bone marrow hypercellularity\n", + " definition of HP:0031020 (Bone marrow hypercellularity)\n", + " \n", + " \n", + " A larger than normal amount or percentage of hematopoietic cells relative to marrow fat.\n", + " definition of HP:0031020 (Bone marrow hypercellularity)\n", + " \n", + " \n", + " #Myeloid hyperplasia\n", + " definition of HP:0031020 (Bone marrow hypercellularity)\n", + " \n", + " \n", + " Vitamin B3 deficiency\n", + " definition of HP:0100497 (Vitamin B3 deficiency)\n", + " \n", + " \n", + " #Vitamin B3 deficiency\n", + " definition of HP:0100497 (Vitamin B3 deficiency)\n", + " \n", + " \n", + " Elevated CSF guanidinoacetic acid concentration\n", + " definition of HP:6000396 (Elevated CSF guanidinoacetic acid concentration)\n", + " \n", + " \n", + " The concentration of guanidinoacetic acid in the cerebrospinal fluid (CSF) is above the upper limit of normal.\n", + " definition of HP:6000396 (Elevated CSF guanidinoacetic acid concentration)\n", + " \n", + " \n", + " Abnormality of risorius muscle\n", + " definition of HP:3000015 (Abnormality of risorius muscle)\n", + " \n", + " \n", + " An abnormality of a risorius muscle.\n", + " definition of HP:3000015 (Abnormality of risorius muscle)\n", + " \n", + " \n", + " Abnormal lip morphology\n", + " definition of HP:0000159 (Abnormal lip morphology)\n", + " \n", + " \n", + " An abnormality of the lip.\n", + " definition of HP:0000159 (Abnormal lip morphology)\n", + " \n", + " \n", + " #Abnormal lip #Abnormality of the lip #Lip abnormality\n", + " definition of HP:0000159 (Abnormal lip morphology)\n", + " \n", + " \n", + " Absent foot\n", + " definition of HP:0011301 (Absent foot)\n", + " \n", + " \n", + " The total absence of the foot, with no bony elements distal to the tibia or fibula.\n", + " definition of HP:0011301 (Absent foot)\n", + " \n", + " \n", + " #Absent foot #Aplasia of the foot #Apodia\n", + " definition of HP:0011301 (Absent foot)\n", + " \n", + " \n", + " History of recent intermittent breastfeeding\n", + " definition of HP:6001045 (History of recent intermittent breastfeeding)\n", + " \n", + " \n", + " History of recently intermittent breastfeeding an infant (i.e., on and off).\n", + " definition of HP:6001045 (History of recent intermittent breastfeeding)\n", + " \n", + " \n", + " Positive CSF Tropheryma whipplei bacteria microscopy\n", + " definition of HP:6000766 (Positive CSF Tropheryma whipplei bacteria microscopy)\n", + " \n", + " \n", + " Demonstration of Tropheryma whipplei bacteria in the cerebrospinal fluid (CSF) my microscopic analysis.\n", + " definition of HP:6000766 (Positive CSF Tropheryma whipplei bacteria microscopy)\n", + " \n", + " \n", + " Osteolytic defect of the proximal phalanx of the thumb\n", + " definition of HP:0009633 (Osteolytic defect of the proximal phalanx of the thumb)\n", + " \n", + " \n", + " Dissolution or degeneration of bone tissue of the proximal phalanx of the thumb.\n", + " definition of HP:0009633 (Osteolytic defect of the proximal phalanx of the thumb)\n", + " \n", + " \n", + " #Osteolytic defects of the proximal phalanx of the thumb\n", + " definition of HP:0009633 (Osteolytic defect of the proximal phalanx of the thumb)\n", + " \n", + " \n", + " Alpha-aminobutyric aciduria\n", + " definition of HP:0025631 (Alpha-aminobutyric aciduria)\n", + " \n", + " \n", + " Increased amount of alpha-aminobutyric acid in the urine.\n", + " definition of HP:0025631 (Alpha-aminobutyric aciduria)\n", + " \n", + " \n", + " Decreased number of peripheral myelinated nerve fibers\n", + " definition of HP:0003380 (Decreased number of peripheral myelinated nerve fibers)\n", + " \n", + " \n", + " A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy).\n", + " definition of HP:0003380 (Decreased number of peripheral myelinated nerve fibers)\n", + " \n", + " \n", + " #Decreased number of large and small myelinated fibers #Decreased number of large and small myelinated fibres #Decreased number of peripheral myelinated nerve fibres #Loss of myelinated fibers #Loss of myelinated fibres\n", + " definition of HP:0003380 (Decreased number of peripheral myelinated nerve fibers)\n", + " \n", + " \n", + " 4-hydroxyphenylacetic aciduria\n", + " definition of HP:0003607 (4-hydroxyphenylacetic aciduria)\n", + " \n", + " \n", + " Increased concentration of 4-hydroxyphenylacetic acid in the urine.\n", + " definition of HP:0003607 (4-hydroxyphenylacetic aciduria)\n", + " \n", + " \n", + " #Elevated urine 4-hydroxyphenylacetic acid level\n", + " definition of HP:0003607 (4-hydroxyphenylacetic aciduria)\n", + " \n", + " \n", + " Recurrent infection of the gastrointestinal tract\n", + " definition of HP:0004798 (Recurrent infection of the gastrointestinal tract)\n", + " \n", + " \n", + " Recurrent infection of the gastrointestinal tract.\n", + " definition of HP:0004798 (Recurrent infection of the gastrointestinal tract)\n", + " \n", + " \n", + " #Recurrent gastrointestinal infections #Recurrent infection of the gastrointestinal tract #Recurrent infection of the GI tract\n", + " definition of HP:0004798 (Recurrent infection of the gastrointestinal tract)\n", + " \n", + " \n", + " Orofacial cleft\n", + " definition of HP:0000202 (Orofacial cleft)\n", + " \n", + " \n", + " The presence of a cleft (gap, opening, or groove) in the oral cavity, including cleft of the upper lip and/or cleft of the palate. Cleft of the upper lip is visible as a groove or fissure in the lip, most frequently due to a congenital failure of the maxillary and median nasal processes to fuse. Cleft palate is characterized by a grooved depression or fissure in the roof of the mouth, most often resulting from a congenital failure of the palate to fuse properly. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately.\n", + " definition of HP:0000202 (Orofacial cleft)\n", + " \n", + " \n", + " #Cleft of the mouth #Oral cleft #Oral clefting\n", + " definition of HP:0000202 (Orofacial cleft)\n", + " \n", + " \n", + " Delayed phalangeal epiphyseal ossification\n", + " definition of HP:0006016 (Delayed phalangeal epiphyseal ossification)\n", + " \n", + " \n", + " Delay in the process of formation and maturation of the epiphysis of one or more phalanx.\n", + " definition of HP:0006016 (Delayed phalangeal epiphyseal ossification)\n", + " \n", + " \n", + " #Delayed phalangeal epiphyseal bone maturation\n", + " definition of HP:0006016 (Delayed phalangeal epiphyseal ossification)\n", + " \n", + " \n", + " Retinopathy of prematurity stage 3\n", + " definition of HP:0500052 (Retinopathy of prematurity stage 3)\n", + " \n", + " \n", + " The neovascularization accumulates at the edge of the vascularized retina and extends into the vitreous (also called extra retinal fibrosis proliferation). In cases of Zone 2 and Zone 3, this may be sausage shaped. In more posterior Zone 1 disease, the stage 3 can appear as a direct extension of the normal retinal vessels but extending tangentially over the avascular retina.\n", + " definition of HP:0500052 (Retinopathy of prematurity stage 3)\n", + " \n", + " \n", + " #ROP stage 3\n", + " definition of HP:0500052 (Retinopathy of prematurity stage 3)\n", + " \n", + " \n", + " Stippling of the epiphysis of the proximal phalanx of the 2nd finger\n", + " definition of HP:0009533 (Stippling of the epiphysis of the proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Speckled calcifications in end part of the innermost long bone of index finger\n", + " definition of HP:0009533 (Stippling of the epiphysis of the proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Impaired clot retraction\n", + " definition of HP:0031126 (Impaired clot retraction)\n", + " \n", + " \n", + " Platelets contain contractile proteins (actin and myosin) that induce clot retraction. As the platelets contract, they pull on the surrounding fibrin strands, squeezing serum form the mass, compacting the clot and drawing the ruptured edges of the blood vessel more closely together. Clot retraction is directly proportional to the platelet count and inversely proportional to the fibrinogen concentration.\n", + " definition of HP:0031126 (Impaired clot retraction)\n", + " \n", + " \n", + " Elevated tissue arylsulfatase A activity\n", + " definition of HP:6001112 (Elevated tissue arylsulfatase A activity)\n", + " \n", + " \n", + " Activity of arylsulfatase A (EC 3.1.6.8) above the upper limit of normal. The activity can be measured in multiple tissues including culutured fibroblasts and leukocytes or in the blood circulation.\n", + " definition of HP:6001112 (Elevated tissue arylsulfatase A activity)\n", + " \n", + " \n", + " Beard and mustache distribution\n", + " definition of HP:6000423 (Beard and mustache distribution)\n", + " \n", + " \n", + " Applies to an abnormality whose distribution and appearance are located at regions of the male face covered by a beard or mustache.\n", + " definition of HP:6000423 (Beard and mustache distribution)\n", + " \n", + " \n", + " Fusiform ascending tubular aorta aneurysm\n", + " definition of HP:0031643 (Fusiform ascending tubular aorta aneurysm)\n", + " \n", + " \n", + " A concentric abnormal localized widening (dilatation) of the ascending tubular aorta that involves the full circumference of the vessel wall.\n", + " definition of HP:0031643 (Fusiform ascending tubular aorta aneurysm)\n", + " \n", + " \n", + " Albinism\n", + " definition of HP:0001022 (Albinism)\n", + " \n", + " \n", + " An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina).\n", + " definition of HP:0001022 (Albinism)\n", + " \n", + " \n", + " #Achromasia #Albinism\n", + " definition of HP:0001022 (Albinism)\n", + " \n", + " \n", + " Abnormal motor evoked potentials\n", + " definition of HP:0012896 (Abnormal motor evoked potentials)\n", + " \n", + " \n", + " An anomaly identified by motor evoked potentials (MEPs). MEPs are measured following single-pulse or repetitive transcranial magnetic stimulation and can be used for the assessment of the excitability of the motor cortex and the integrity of conduction along the central and peripheral motor pathways.\n", + " definition of HP:0012896 (Abnormal motor evoked potentials)\n", + " \n", + " \n", + " Focal dermal aplasia/hypoplasia\n", + " definition of HP:0007510 (Focal dermal aplasia/hypoplasia)\n", + " \n", + " \n", + " Pilomatrixoma\n", + " definition of HP:0030434 (Pilomatrixoma)\n", + " \n", + " \n", + " Pilomatricoma is an asymptomatic slowly growing benign cutaneous tumor, differentiating towards the hair matrix of the hair follicle. It is covered by normal or hyperemic skin, and usually varies in size from 0.5 to 3 cm.\n", + " definition of HP:0030434 (Pilomatrixoma)\n", + " \n", + " \n", + " Increased anti-venom IgE antibody level\n", + " definition of HP:0410236 (Increased anti-venom IgE antibody level)\n", + " \n", + " \n", + " Increased level of IgE antibody against venom from insects such as bees, wasps, hornets, yellowjackets.\n", + " definition of HP:0410236 (Increased anti-venom IgE antibody level)\n", + " \n", + " \n", + " Decreased libido\n", + " definition of HP:0046504 (Decreased libido)\n", + " \n", + " \n", + " Decreased sexual desire.\n", + " definition of HP:0046504 (Decreased libido)\n", + " \n", + " \n", + " Sideroblastic anemia\n", + " definition of HP:0001924 (Sideroblastic anemia)\n", + " \n", + " \n", + " Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining).\n", + " definition of HP:0001924 (Sideroblastic anemia)\n", + " \n", + " \n", + " #Hypersideremic anaemia #Hypersideremic anemia #Sideroblastic anaemia\n", + " definition of HP:0001924 (Sideroblastic anemia)\n", + " \n", + " \n", + " Kernicterus\n", + " definition of HP:0001343 (Kernicterus)\n", + " \n", + " \n", + " Damage to cerebral nuclei caused in infants by highly increased levels of unconjugated bilirubin. The basal ganglia and brainstem nuclei could be shown to have a yellow staining historically in infants who died of kernicterus, that is, kernicterus is strictly speaking a pathological diagnosis. The presence of kernicterus may be inferred in infants with characteristic acute or chronic bilirubin-induced neurological dysfunction.\n", + " definition of HP:0001343 (Kernicterus)\n", + " \n", + " \n", + " Cerebellar cyst\n", + " definition of HP:0002350 (Cerebellar cyst)\n", + " \n", + " \n", + " #Cerebellar cysts\n", + " definition of HP:0002350 (Cerebellar cyst)\n", + " \n", + " \n", + " Glycogen accumulation in pulmonary interstitial cells\n", + " definition of HP:0033244 (Glycogen accumulation in pulmonary interstitial cells)\n", + " \n", + " \n", + " Accumulation of immature interstitial cells containing abundant cytoplasmic glycogen defined by periodic acid-Schiff (PAS) positive cells.\n", + " definition of HP:0033244 (Glycogen accumulation in pulmonary interstitial cells)\n", + " \n", + " \n", + " Macular telangiectasia\n", + " definition of HP:0030503 (Macular telangiectasia)\n", + " \n", + " \n", + " #Juxtafoveal telangiectasia #Parafoveal telangiectasia\n", + " definition of HP:0030503 (Macular telangiectasia)\n", + " \n", + " \n", + " Abnormal complex N-glycan level\n", + " definition of HP:0410351 (Abnormal complex N-glycan level)\n", + " \n", + " \n", + " An abnormal concentration of complex N-glycans on glycoproteins.\n", + " definition of HP:0410351 (Abnormal complex N-glycan level)\n", + " \n", + " \n", + " #Abnormal concentration of complex N-glycans on glycoproteins\n", + " definition of HP:0410351 (Abnormal complex N-glycan level)\n", + " \n", + " \n", + " Hypoplasia of the abdominal wall musculature\n", + " definition of HP:0005247 (Hypoplasia of the abdominal wall musculature)\n", + " \n", + " \n", + " Underdevelopment of the abdominal musculature.\n", + " definition of HP:0005247 (Hypoplasia of the abdominal wall musculature)\n", + " \n", + " \n", + " #Abdominal muscular hypoplasia\n", + " definition of HP:0005247 (Hypoplasia of the abdominal wall musculature)\n", + " \n", + " \n", + " Shoulder dislocation\n", + " definition of HP:0003834 (Shoulder dislocation)\n", + " \n", + " \n", + " A displacement or misalignment of the humerus with respect to the other bones of the should joint. Note that a subluxation is a partial dislocation.\n", + " definition of HP:0003834 (Shoulder dislocation)\n", + " \n", + " \n", + " #Shoulder dislocation\n", + " definition of HP:0003834 (Shoulder dislocation)\n", + " \n", + " \n", + " Abnormal oral glucose tolerance\n", + " definition of HP:0004924 (Abnormal oral glucose tolerance)\n", + " \n", + " \n", + " An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral administration of glucose.\n", + " definition of HP:0004924 (Abnormal oral glucose tolerance)\n", + " \n", + " \n", + " #Abnormal glucose oral tolerance test\n", + " definition of HP:0004924 (Abnormal oral glucose tolerance)\n", + " \n", + " \n", + " Abnormality of the pylorus\n", + " definition of HP:0004400 (Abnormality of the pylorus)\n", + " \n", + " \n", + " An abnormality of the pylorus.\n", + " definition of HP:0004400 (Abnormality of the pylorus)\n", + " \n", + " \n", + " Limited hip movement\n", + " definition of HP:0008800 (Limited hip movement)\n", + " \n", + " \n", + " A decreased ability to move the femur at the hip joint associated with a decreased range of motion of the hip.\n", + " definition of HP:0008800 (Limited hip movement)\n", + " \n", + " \n", + " #Limited hip movement\n", + " definition of HP:0008800 (Limited hip movement)\n", + " \n", + " \n", + " Focal impaired awareness autonomic seizure with pupillary dilation/constriction\n", + " definition of HP:0032779 (Focal impaired awareness autonomic seizure with pupillary dilation/constriction)\n", + " \n", + " \n", + " A focal autonomic seizure with pupillary dilation / constriction characterized by impaired awareness at some point during the seizure.\n", + " definition of HP:0032779 (Focal impaired awareness autonomic seizure with pupillary dilation/constriction)\n", + " \n", + " \n", + " Absence of epidermal lamellar bodies\n", + " definition of HP:0034840 (Absence of epidermal lamellar bodies)\n", + " \n", + " \n", + " Lack of lamellar bodies (LBs) inthe epidermis. LBs are specialized organelles that contain pro-barrier lipids imparting a fully lamellar internal structure, but also other cargoes such as enzymes (lipid metabolizing and proteolytic), enzyme inhibitors, and antimicrobial peptides.\n", + " definition of HP:0034840 (Absence of epidermal lamellar bodies)\n", + " \n", + " \n", + " EEG with intermittent slow activity\n", + " definition of HP:0011205 (EEG with intermittent slow activity)\n", + " \n", + " \n", + " Non-continuous diffuse slowing of electroencephalographic patterns.\n", + " definition of HP:0011205 (EEG with intermittent slow activity)\n", + " \n", + " \n", + " Thyroid C cell hyperplasia\n", + " definition of HP:0011781 (Thyroid C cell hyperplasia)\n", + " \n", + " \n", + " An abnormal growth of parafollicular (C-cells) cells.\n", + " definition of HP:0011781 (Thyroid C cell hyperplasia)\n", + " \n", + " \n", + " Nummular pigmentation of the fundus\n", + " definition of HP:0030505 (Nummular pigmentation of the fundus)\n", + " \n", + " \n", + " Clumped pigmentary changes of nummular appearance (i.e., thought to resemble the shape of a coin or multiple coins stuck together) at the level of the retinal pigment epithelium.\n", + " definition of HP:0030505 (Nummular pigmentation of the fundus)\n", + " \n", + " \n", + " #Nummular pigmentation of the retina\n", + " definition of HP:0030505 (Nummular pigmentation of the fundus)\n", + " \n", + " \n", + " Hyperoxemia in cord blood\n", + " definition of HP:0410212 (Hyperoxemia in cord blood)\n", + " \n", + " \n", + " An abnormally high level of blood oxygen in the cord blood.\n", + " definition of HP:0410212 (Hyperoxemia in cord blood)\n", + " \n", + " \n", + " #High cord blood oxygen level\n", + " definition of HP:0410212 (Hyperoxemia in cord blood)\n", + " \n", + " \n", + " Chronic absent circulating IgD\n", + " definition of HP:0033018 (Chronic absent circulating IgD)\n", + " \n", + " \n", + " A lasting absence of immunoglobulin D (IgD) in the blood, whereby at most trace quantities of IgD can be measured.\n", + " definition of HP:0033018 (Chronic absent circulating IgD)\n", + " \n", + " \n", + " #Chronic (near) absent IgM in blood\n", + " definition of HP:0033018 (Chronic absent circulating IgD)\n", + " \n", + " \n", + " Triggered by monoamine oxidase inhibitor\n", + " definition of HP:0034533 (Triggered by monoamine oxidase inhibitor)\n", + " \n", + " \n", + " Applies to a sign or symptom that is provoked or brought about by exposure to a monoamine oxidase inhibitor.\n", + " definition of HP:0034533 (Triggered by monoamine oxidase inhibitor)\n", + " \n", + " \n", + " #MAO inhibitors trigger attacks #Triggered by MAO inhibitor\n", + " definition of HP:0034533 (Triggered by monoamine oxidase inhibitor)\n", + " \n", + " \n", + " Abnormal gamma-glutamyltransferase level\n", + " definition of HP:0034444 (Abnormal gamma-glutamyltransferase level)\n", + " \n", + " \n", + " Any deviation from the normal level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues.\n", + " definition of HP:0034444 (Abnormal gamma-glutamyltransferase level)\n", + " \n", + " \n", + " Hypohidrosis\n", + " definition of HP:0000966 (Hypohidrosis)\n", + " \n", + " \n", + " Abnormally diminished capacity to sweat.\n", + " definition of HP:0000966 (Hypohidrosis)\n", + " \n", + " \n", + " #Decreased ability to sweat #Decreased sweating #Inadequate sweating #Oligohidrosis #Sweating, decreased\n", + " definition of HP:0000966 (Hypohidrosis)\n", + " \n", + " \n", + " Diffuse axonal swelling\n", + " definition of HP:0003405 (Diffuse axonal swelling)\n", + " \n", + " \n", + " Patchy sclerosis of the proximal phalanx of the 3rd finger\n", + " definition of HP:0009454 (Patchy sclerosis of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Uneven (irregular) increase in bone density of the proximal phalanx of the third finger.\n", + " definition of HP:0009454 (Patchy sclerosis of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Uneven increase in bone density in the innermost bone of the middle finger\n", + " definition of HP:0009454 (Patchy sclerosis of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Twin-to-twin transfusion\n", + " definition of HP:0031110 (Twin-to-twin transfusion)\n", + " \n", + " \n", + " As a result of sharing a single placenta, the blood supplies of monochorionic twin fetuses can become connected, so that they share blood circulation: although each fetus uses its own portion of the placenta, the connecting blood vessels within the placenta allow blood to pass from one twin to the other.Depending on the number, type and direction of the interconnecting blood vessels (anastomoses), blood can be transferred disproportionately from one twin (the donor) to the other (the recipient). This state of transfusion causes the donor twin to have decreased blood volume, retarding the donor's development and growth. The blood volume of the recipient twin is increased, which can strain the fetus's heart and eventually lead to heart failure.\n", + " definition of HP:0031110 (Twin-to-twin transfusion)\n", + " \n", + " \n", + " Axonal degeneration/regeneration\n", + " definition of HP:0003378 (Axonal degeneration/regeneration)\n", + " \n", + " \n", + " A pattern of simultaneous degeneration and regeneration of axons (see comment).\n", + " definition of HP:0003378 (Axonal degeneration/regeneration)\n", + " \n", + " \n", + " #Axon degeneration and regeneration\n", + " definition of HP:0003378 (Axonal degeneration/regeneration)\n", + " \n", + " \n", + " Short pointed phalanges\n", + " definition of HP:0006045 (Short pointed phalanges)\n", + " \n", + " \n", + " #Short pointed digital bones\n", + " definition of HP:0006045 (Short pointed phalanges)\n", + " \n", + " \n", + " Blepharophimosis\n", + " definition of HP:0000581 (Blepharophimosis)\n", + " \n", + " \n", + " A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.\n", + " definition of HP:0000581 (Blepharophimosis)\n", + " \n", + " \n", + " #Decreased width of palpebral fissure #Narrow opening between the eyelids\n", + " definition of HP:0000581 (Blepharophimosis)\n", + " \n", + " \n", + " Superior oblique muscle overaction\n", + " definition of HP:0025594 (Superior oblique muscle overaction)\n", + " \n", + " \n", + " An ocular motility abnormality characterized by an overacting superior oblique muscle resulting to vertical incomitance of the eyes in lateral gaze. On examination, this is commonly seen as a downshoot of the adducting eye occurring when gaze is directed into the field of action of the inferior oblique muscle, producing a greater downward excursion of the adducted eye than of the abducted eye.\n", + " definition of HP:0025594 (Superior oblique muscle overaction)\n", + " \n", + " \n", + " Palpitations terminated by Valsava maneuver\n", + " definition of HP:6000035 (Palpitations terminated by Valsava maneuver)\n", + " \n", + " \n", + " Cessation of palpitations can be induced by Valsava maneuver.\n", + " definition of HP:6000035 (Palpitations terminated by Valsava maneuver)\n", + " \n", + " \n", + " Absent epiphysis of the middle phalanx of the 4th toe\n", + " definition of HP:0100180 (Absent epiphysis of the middle phalanx of the 4th toe)\n", + " \n", + " \n", + " #Absent end part of the middle bone of the 4th toe\n", + " definition of HP:0100180 (Absent epiphysis of the middle phalanx of the 4th toe)\n", + " \n", + " \n", + " Hyperphalangy of the 2nd finger\n", + " definition of HP:0030368 (Hyperphalangy of the 2nd finger)\n", + " \n", + " \n", + " An accessory phalanx of the index (second) finger that is arranged linearly with the other phalanges. Hyperphalangy of the index finger results from an accessory ossification center at the metacarpophalangeal joint, resulting in radial deviation of the index finger. Note that this term refers only to this type of hyperphalangy.\n", + " definition of HP:0030368 (Hyperphalangy of the 2nd finger)\n", + " \n", + " \n", + " #Hyperphalangy of index finger\n", + " definition of HP:0030368 (Hyperphalangy of the 2nd finger)\n", + " \n", + " \n", + " Sclerosis with transverse striations in metaphyses of the upper limbs\n", + " definition of HP:0003853 (Sclerosis with transverse striations in metaphyses of the upper limbs)\n", + " \n", + " \n", + " Disseminated infection with live vaccine virus\n", + " definition of HP:0031697 (Disseminated infection with live vaccine virus)\n", + " \n", + " \n", + " A dissemination viral infection caused by a live attenuated vaccine virus.\n", + " definition of HP:0031697 (Disseminated infection with live vaccine virus)\n", + " \n", + " \n", + " Absent epiphysis of the proximal phalanx of the 3rd toe\n", + " definition of HP:0100157 (Absent epiphysis of the proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Absent end part of the innermost bone of the 3rd toe\n", + " definition of HP:0100157 (Absent epiphysis of the proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Tricuspid stenosis\n", + " definition of HP:0010446 (Tricuspid stenosis)\n", + " \n", + " \n", + " A narrowing of the orifice of the tricuspid valve of the heart.\n", + " definition of HP:0010446 (Tricuspid stenosis)\n", + " \n", + " \n", + " Mitochondrial respiratory chain defects\n", + " definition of HP:0200125 (Mitochondrial respiratory chain defects)\n", + " \n", + " \n", + " Abnormal pharynx physiology\n", + " definition of HP:0033152 (Abnormal pharynx physiology)\n", + " \n", + " \n", + " A functional anomaly of the pharynx.\n", + " definition of HP:0033152 (Abnormal pharynx physiology)\n", + " \n", + " \n", + " Decreased CSF serine concentration\n", + " definition of HP:0500228 (Decreased CSF serine concentration)\n", + " \n", + " \n", + " Abnormally decreased levels of serine in cerebrospinal fluid.\n", + " definition of HP:0500228 (Decreased CSF serine concentration)\n", + " \n", + " \n", + " #Low serine levels in cerebrospinal fluid\n", + " definition of HP:0500228 (Decreased CSF serine concentration)\n", + " \n", + " \n", + " Duplication of the proximal phalanx of the 2nd finger\n", + " definition of HP:0009947 (Duplication of the proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Partial or complete duplication of the second proximal phalanx of hand.\n", + " definition of HP:0009947 (Duplication of the proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Duplication of the proximal bone of the index finger #Partial/complete duplication of the proximal phalanx of the 2nd finger\n", + " definition of HP:0009947 (Duplication of the proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Stroke-like episode\n", + " definition of HP:0002401 (Stroke-like episode)\n", + " \n", + " \n", + " No consensus exists on what a stroke-like episode is, but these episodes can be functionally defined as a new neurological deficit, occurring with or without the context of seizures, which last longer than 24 hours.\n", + " definition of HP:0002401 (Stroke-like episode)\n", + " \n", + " \n", + " #Stroke-like episodes #Strokelike episodes\n", + " definition of HP:0002401 (Stroke-like episode)\n", + " \n", + " \n", + " Abnormal ileum morphology\n", + " definition of HP:0001549 (Abnormal ileum morphology)\n", + " \n", + " \n", + " #Abnormality of the ileum\n", + " definition of HP:0001549 (Abnormal ileum morphology)\n", + " \n", + " \n", + " Transient decreased circulating IgG2\n", + " definition of HP:0041062 (Transient decreased circulating IgG2)\n", + " \n", + " \n", + " A temporary reduction beneath the normal level of total immunoglobulin G2 (IgG2) in the blood circulation.\n", + " definition of HP:0041062 (Transient decreased circulating IgG2)\n", + " \n", + " \n", + " #Transient decreased IgG2 in blood\n", + " definition of HP:0041062 (Transient decreased circulating IgG2)\n", + " \n", + " \n", + " Hemifacial atrophy\n", + " definition of HP:0011331 (Hemifacial atrophy)\n", + " \n", + " \n", + " Unilateral atrophy of facial tissues, including muscles, bones and skin.\n", + " definition of HP:0011331 (Hemifacial atrophy)\n", + " \n", + " \n", + " #Atrophy of half of face #Atrophy of one side of the face #Facial hemiatrophy\n", + " definition of HP:0011331 (Hemifacial atrophy)\n", + " \n", + " \n", + " Spherocytosis\n", + " definition of HP:0004444 (Spherocytosis)\n", + " \n", + " \n", + " The presence of erythrocytes that are sphere-shaped.\n", + " definition of HP:0004444 (Spherocytosis)\n", + " \n", + " \n", + " Broad phalanges of the 5th toe\n", + " definition of HP:0010384 (Broad phalanges of the 5th toe)\n", + " \n", + " \n", + " #Broad bones of the little toe #Broad bones of the pinkie toe #Broad bones of the pinky toe\n", + " definition of HP:0010384 (Broad phalanges of the 5th toe)\n", + " \n", + " \n", + " Pseudoepiphysis of the distal phalanx of the 3rd toe\n", + " definition of HP:0100142 (Pseudoepiphysis of the distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Female infertility\n", + " definition of HP:0008222 (Female infertility)\n", + " \n", + " \n", + " #Female infertility\n", + " definition of HP:0008222 (Female infertility)\n", + " \n", + " \n", + " Absent second fingernail\n", + " definition of HP:0033975 (Absent second fingernail)\n", + " \n", + " \n", + " Absence of the fingernail of the index (second) finger.\n", + " definition of HP:0033975 (Absent second fingernail)\n", + " \n", + " \n", + " Irregular hyperpigmentation of back\n", + " definition of HP:0007521 (Irregular hyperpigmentation of back)\n", + " \n", + " \n", + " Leydig cell neoplasia\n", + " definition of HP:0100618 (Leydig cell neoplasia)\n", + " \n", + " \n", + " The presence of a neoplasm of the testis with origin in a Leydig cell.\n", + " definition of HP:0100618 (Leydig cell neoplasia)\n", + " \n", + " \n", + " Bilateral postaxial polydactyly\n", + " definition of HP:0006136 (Bilateral postaxial polydactyly)\n", + " \n", + " \n", + " Increased circulating interleukin 23 concentration\n", + " definition of HP:0034172 (Increased circulating interleukin 23 concentration)\n", + " \n", + " \n", + " An abnormally increased concentration of interleukin 23 in the blood circulation.\n", + " definition of HP:0034172 (Increased circulating interleukin 23 concentration)\n", + " \n", + " \n", + " Multiple plantar creases\n", + " definition of HP:0008113 (Multiple plantar creases)\n", + " \n", + " \n", + " Abnormal circulating inhibin level\n", + " definition of HP:0031099 (Abnormal circulating inhibin level)\n", + " \n", + " \n", + " Any deviation from the normal concentration of inhibins, which are heterodimeric protein hormones secreted by granulosa cells of the ovary in females and Sertoli cells of the testis in males. Inhibins suppress the secretion of pituitary follicle-stimulating hormone.\n", + " definition of HP:0031099 (Abnormal circulating inhibin level)\n", + " \n", + " \n", + " Transient psychotic episodes\n", + " definition of HP:0006932 (Transient psychotic episodes)\n", + " \n", + " \n", + " Relatively short-lived periods of psychosis are characterized by the sudden onset of severe disturbances in perception, thinking, and behavior. These episodes typically last for a brief duration, generally ranging from a few days to a few weeks, and are often triggered by a significant stressor or traumatic event.\n", + " definition of HP:0006932 (Transient psychotic episodes)\n", + " \n", + " \n", + " #Brief psychotic episodes #Brief reactive psychosis\n", + " definition of HP:0006932 (Transient psychotic episodes)\n", + " \n", + " \n", + " Mild receptive language delay\n", + " definition of HP:0011350 (Mild receptive language delay)\n", + " \n", + " \n", + " A mild delay in the acquisition of the ability to understand the speech of others.\n", + " definition of HP:0011350 (Mild receptive language delay)\n", + " \n", + " \n", + " Shortening of all phalanges of the toes\n", + " definition of HP:0005035 (Shortening of all phalanges of the toes)\n", + " \n", + " \n", + " Developmental hypoplasia (shortening) of all phalanges of the foot.\n", + " definition of HP:0005035 (Shortening of all phalanges of the toes)\n", + " \n", + " \n", + " #Short toe bones\n", + " definition of HP:0005035 (Shortening of all phalanges of the toes)\n", + " \n", + " \n", + " Large hyperpigmented retinal spots\n", + " definition of HP:0007658 (Large hyperpigmented retinal spots)\n", + " \n", + " \n", + " Asymmetric radial dysplasia\n", + " definition of HP:0006420 (Asymmetric radial dysplasia)\n", + " \n", + " \n", + " The presence of asymmetric developmental dysplasia of the radius.\n", + " definition of HP:0006420 (Asymmetric radial dysplasia)\n", + " \n", + " \n", + " Triangular epiphysis of the proximal phalanx of the 4th finger\n", + " definition of HP:0009271 (Triangular epiphysis of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " A triangular appearance of the epiphysis of the proximal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat.\n", + " definition of HP:0009271 (Triangular epiphysis of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " #Delta-shaped epiphysis of the proximal phalanx of the 4th finger #Triangular end part of the innermost bone of ring finger\n", + " definition of HP:0009271 (Triangular epiphysis of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " Nasofrontal encephalocele\n", + " definition of HP:0011818 (Nasofrontal encephalocele)\n", + " \n", + " \n", + " #Naso-frontal encephalocele\n", + " definition of HP:0011818 (Nasofrontal encephalocele)\n", + " \n", + " \n", + " Follicular bronchiolitis\n", + " definition of HP:0033583 (Follicular bronchiolitis)\n", + " \n", + " \n", + " Follicular bronchiolitis is a polyclonal hyperplasia of bronchiolar associated lymphoid tissue characterized by the is characterized by the development of lymphoid follicles with germinal centers in walls of the small airways.\n", + " definition of HP:0033583 (Follicular bronchiolitis)\n", + " \n", + " \n", + " Congenital curved nail of fourth toe\n", + " definition of HP:0008393 (Congenital curved nail of fourth toe)\n", + " \n", + " \n", + " Abnormality of the palmar creases\n", + " definition of HP:0010490 (Abnormality of the palmar creases)\n", + " \n", + " \n", + " An abnormality of the creases of the skin of palm of hand.\n", + " definition of HP:0010490 (Abnormality of the palmar creases)\n", + " \n", + " \n", + " #Abnormality of the palm lines\n", + " definition of HP:0010490 (Abnormality of the palmar creases)\n", + " \n", + " \n", + " Occipital location\n", + " definition of HP:6000175 (Occipital location)\n", + " \n", + " \n", + " Applies to an abnormality that is situated in the occiput (back part of the head).\n", + " definition of HP:6000175 (Occipital location)\n", + " \n", + " \n", + " Synostosis of thumb phalanx\n", + " definition of HP:0009635 (Synostosis of thumb phalanx)\n", + " \n", + " \n", + " Fusion of a phalanx of the thumb with another bone.\n", + " definition of HP:0009635 (Synostosis of thumb phalanx)\n", + " \n", + " \n", + " #Fusion of thumb bone\n", + " definition of HP:0009635 (Synostosis of thumb phalanx)\n", + " \n", + " \n", + " Increased size of the mandible\n", + " definition of HP:0040309 (Increased size of the mandible)\n", + " \n", + " \n", + " #Large jaw\n", + " definition of HP:0040309 (Increased size of the mandible)\n", + " \n", + " \n", + " Coombs-positive hemolytic anemia\n", + " definition of HP:0004844 (Coombs-positive hemolytic anemia)\n", + " \n", + " \n", + " A type of hemolytic anemia in which the Coombs test is positive.\n", + " definition of HP:0004844 (Coombs-positive hemolytic anemia)\n", + " \n", + " \n", + " #Coombs-positive hemolytic anaemia #Direct Coombs positive\n", + " definition of HP:0004844 (Coombs-positive hemolytic anemia)\n", + " \n", + " \n", + " Abnormality of pattern visual evoked potentials\n", + " definition of HP:0030455 (Abnormality of pattern visual evoked potentials)\n", + " \n", + " \n", + " Compensatory chin depression\n", + " definition of HP:0031706 (Compensatory chin depression)\n", + " \n", + " \n", + " A tendency to hold the chin depressed (lowered) to compensate for a limitation of eye movement.\n", + " definition of HP:0031706 (Compensatory chin depression)\n", + " \n", + " \n", + " Globe retraction and deviation on abduction\n", + " definition of HP:0000497 (Globe retraction and deviation on abduction)\n", + " \n", + " \n", + " Nasal flaring\n", + " definition of HP:0030863 (Nasal flaring)\n", + " \n", + " \n", + " Widening of the nostrils upon inhalation as a manifestation of respiratory distress.\n", + " definition of HP:0030863 (Nasal flaring)\n", + " \n", + " \n", + " Impaired binding of factor VIII to VWF\n", + " definition of HP:0040237 (Impaired binding of factor VIII to VWF)\n", + " \n", + " \n", + " Impaired binding of factor VIII to von Willebrand Factor. This is determined using a modified ELISA assay.\n", + " definition of HP:0040237 (Impaired binding of factor VIII to VWF)\n", + " \n", + " \n", + " #von Willebrand Disease Type II Normandy\n", + " definition of HP:0040237 (Impaired binding of factor VIII to VWF)\n", + " \n", + " \n", + " Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material\n", + " definition of HP:0006916 (Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material)\n", + " \n", + " \n", + " Curvilinear intracellular accumulation of autofluorescent lipopigment storage material within axons.\n", + " definition of HP:0006916 (Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material)\n", + " \n", + " \n", + " Reduced beta-hexosaminidase B activity\n", + " definition of HP:0033978 (Reduced beta-hexosaminidase B activity)\n", + " \n", + " \n", + " Diminished activity of the enzyme beta-hexosaminidase in the blood circulation.\n", + " definition of HP:0033978 (Reduced beta-hexosaminidase B activity)\n", + " \n", + " \n", + " #Hexosaminidase B low in blood\n", + " definition of HP:0033978 (Reduced beta-hexosaminidase B activity)\n", + " \n", + " \n", + " Abnormal pigmentation of the oral mucosa\n", + " definition of HP:0100669 (Abnormal pigmentation of the oral mucosa)\n", + " \n", + " \n", + " An abnormality of the pigmentation of the mucosa of the mouth.\n", + " definition of HP:0100669 (Abnormal pigmentation of the oral mucosa)\n", + " \n", + " \n", + " #Abnormal pigmentation of oral cavity #Abnormal pigmentation of oral mucous membrane #Abnormal pigmentation of the oral mucosa/gingivae\n", + " definition of HP:0100669 (Abnormal pigmentation of the oral mucosa)\n", + " \n", + " \n", + " Obstructive sleep apnea\n", + " definition of HP:0002870 (Obstructive sleep apnea)\n", + " \n", + " \n", + " Obstructive Sleep Apnea is a condition characterized by the obstruction of the airway and pauses in breathing during sleep, which occur multiple times throughout the night. It is related to the relaxation of muscle tone that typically happens during sleep, leading to a partial collapse of the soft tissues in the airway and causing airflow obstruction.\n", + " definition of HP:0002870 (Obstructive sleep apnea)\n", + " \n", + " \n", + " Dental crowding\n", + " definition of HP:0000678 (Dental crowding)\n", + " \n", + " \n", + " Changes in alignment of teeth in the dental arch\n", + " definition of HP:0000678 (Dental crowding)\n", + " \n", + " \n", + " #Crowded teeth #Dental crowding #Dental overcrowding #Overcrowding of teeth\n", + " definition of HP:0000678 (Dental crowding)\n", + " \n", + " \n", + " Accessory scrotum\n", + " definition of HP:0030274 (Accessory scrotum)\n", + " \n", + " \n", + " Additional scrotum, or part of a scrotum in an abnormal location.\n", + " definition of HP:0030274 (Accessory scrotum)\n", + " \n", + " \n", + " #Extra scrotum\n", + " definition of HP:0030274 (Accessory scrotum)\n", + " \n", + " \n", + " Foot joint contracture\n", + " definition of HP:0008366 (Foot joint contracture)\n", + " \n", + " \n", + " Contractures of one or more joints of the feet meaning chronic loss of joint motion due to structural changes in non-bony tissue.\n", + " definition of HP:0008366 (Foot joint contracture)\n", + " \n", + " \n", + " #Contractures involving the joints of the feet #Contractures of the foot joints #Joint contractures involving the joints of the feet\n", + " definition of HP:0008366 (Foot joint contracture)\n", + " \n", + " \n", + " Ileal adenocarcinoma\n", + " definition of HP:0030412 (Ileal adenocarcinoma)\n", + " \n", + " \n", + " A malignant epithelial tumor with a glandular organization that originates in the ileum.\n", + " definition of HP:0030412 (Ileal adenocarcinoma)\n", + " \n", + " \n", + " Desmoid tumor\n", + " definition of HP:6001034 (Desmoid tumor)\n", + " \n", + " \n", + " Desmoid tumors are rare, locally aggressive, fibroblastic soft-tissue tumors that are characterized by infiltrative growth and tendency to recur. Desmoid tumors do not metastasize but can arise in any part of the body: extra-abdominal (appear in the head and neck, chest, extremities), and abdominal wall or intra-abdominal (originating in tissue that connects abdominal organs).\n", + " definition of HP:6001034 (Desmoid tumor)\n", + " \n", + " \n", + " #Aggressive fibromatosis #Desmoid-type fibromatosis\n", + " definition of HP:6001034 (Desmoid tumor)\n", + " \n", + " \n", + " Aplasia of the nasal bone\n", + " definition of HP:0010941 (Aplasia of the nasal bone)\n", + " \n", + " \n", + " Absence of the nasal bone.\n", + " definition of HP:0010941 (Aplasia of the nasal bone)\n", + " \n", + " \n", + " #Failure of development of the nasal bone #Lack of development of the nasal bone\n", + " definition of HP:0010941 (Aplasia of the nasal bone)\n", + " \n", + " \n", + " Pancreatic arteriovenous malformation\n", + " definition of HP:6000379 (Pancreatic arteriovenous malformation)\n", + " \n", + " \n", + " Pancreatic arteriovenous malformation is defined as an abnormal vascular net, developed from one or more feeding arteries and enlarged early draining veins, creating an arteriovenous shunting.\n", + " definition of HP:6000379 (Pancreatic arteriovenous malformation)\n", + " \n", + " \n", + " Joint contracture of the hand\n", + " definition of HP:0009473 (Joint contracture of the hand)\n", + " \n", + " \n", + " Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue.\n", + " definition of HP:0009473 (Joint contracture of the hand)\n", + " \n", + " \n", + " #Contractures involving the hands #Contractures of the hands\n", + " definition of HP:0009473 (Joint contracture of the hand)\n", + " \n", + " \n", + " Reduced visual acuity\n", + " definition of HP:0007663 (Reduced visual acuity)\n", + " \n", + " \n", + " #Decreased central vision #Decreased clarity of vision #Decreased visual acuity #Poor visual acuity\n", + " definition of HP:0007663 (Reduced visual acuity)\n", + " \n", + " \n", + " Elevated leukocyte cystine\n", + " definition of HP:0032639 (Elevated leukocyte cystine)\n", + " \n", + " \n", + " An increased concentration of cystine within white blood cells.\n", + " definition of HP:0032639 (Elevated leukocyte cystine)\n", + " \n", + " \n", + " Nasoethmoidal encephalocele\n", + " definition of HP:0025764 (Nasoethmoidal encephalocele)\n", + " \n", + " \n", + " A type of encephalocele that is characterized by herniation through the foramen cecum into the prenasal space and nasal cavity under the nasal bones and above the nasal septum.\n", + " definition of HP:0025764 (Nasoethmoidal encephalocele)\n", + " \n", + " \n", + " Psychic epileptic aura\n", + " definition of HP:0033346 (Psychic epileptic aura)\n", + " \n", + " \n", + " Aura with affective, mnemonic or composite perceptual phenomena including illusory or composite hallucinatory events.\n", + " definition of HP:0033346 (Psychic epileptic aura)\n", + " \n", + " \n", + " #Psychic aura\n", + " definition of HP:0033346 (Psychic epileptic aura)\n", + " \n", + " \n", + " C4 nephritic factor positivity\n", + " definition of HP:0034257 (C4 nephritic factor positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that recognize C4b2a, the C3 convertase of the classical pathway of complement.\n", + " definition of HP:0034257 (C4 nephritic factor positivity)\n", + " \n", + " \n", + " Traction bronchiolectasis\n", + " definition of HP:0032970 (Traction bronchiolectasis)\n", + " \n", + " \n", + " Moderate albuminuria\n", + " definition of HP:0012594 (Moderate albuminuria)\n", + " \n", + " \n", + " The presence of moderately increased concentrations of albumin in the urine, defined as and albumin-creatinine ratio (ACR) of 30 to 299 mg/gm (3.4 to 34 mg/mmol).\n", + " definition of HP:0012594 (Moderate albuminuria)\n", + " \n", + " \n", + " #High urine albumin levels #Microalbuminuria\n", + " definition of HP:0012594 (Moderate albuminuria)\n", + " \n", + " \n", + " Papillary dermal edema\n", + " definition of HP:6000263 (Papillary dermal edema)\n", + " \n", + " \n", + " Swelling due to fluid acculuation of the papillary dermis.\n", + " definition of HP:6000263 (Papillary dermal edema)\n", + " \n", + " \n", + " Abnormal cartilage morphology\n", + " definition of HP:0002763 (Abnormal cartilage morphology)\n", + " \n", + " \n", + " Any morphological abnormality of cartilage.\n", + " definition of HP:0002763 (Abnormal cartilage morphology)\n", + " \n", + " \n", + " #Abnormal shape of cartilage #Abnormality of cartilage morphology\n", + " definition of HP:0002763 (Abnormal cartilage morphology)\n", + " \n", + " \n", + " Osteolytic defects of the 1st metatarsal\n", + " definition of HP:0010071 (Osteolytic defects of the 1st metatarsal)\n", + " \n", + " \n", + " Dissolution or degeneration of bone tissue of the first metatarsal.\n", + " definition of HP:0010071 (Osteolytic defects of the 1st metatarsal)\n", + " \n", + " \n", + " Abnormal circulating ceruloplasmin concentration\n", + " definition of HP:0033144 (Abnormal circulating ceruloplasmin concentration)\n", + " \n", + " \n", + " Any deviation of the concentration of ceruloplasmin in the blood from the normal range.\n", + " definition of HP:0033144 (Abnormal circulating ceruloplasmin concentration)\n", + " \n", + " \n", + " Elevated circulating lyso-globotriaosylsphingosine concentration\n", + " definition of HP:0032657 (Elevated circulating lyso-globotriaosylsphingosine concentration)\n", + " \n", + " \n", + " An abnormal increase in the level of globotriaosylsphingosine (Lyso-Gb3) in the blood circulation.\n", + " definition of HP:0032657 (Elevated circulating lyso-globotriaosylsphingosine concentration)\n", + " \n", + " \n", + " Aplasia of the phalanges of the hand\n", + " definition of HP:0009802 (Aplasia of the phalanges of the hand)\n", + " \n", + " \n", + " Absence of one or more of the phalanges of the hand.\n", + " definition of HP:0009802 (Aplasia of the phalanges of the hand)\n", + " \n", + " \n", + " Autonomic-voluntary dissociation of facial movements\n", + " definition of HP:6000306 (Autonomic-voluntary dissociation of facial movements)\n", + " \n", + " \n", + " The selective paralysis of voluntary fascio-pharyngo-glosso-masticatory movements with preservation of reflexive and automatic functions is referred to as autonomic-voluntary dissociation, which is a distinctive feature of Anterior opercular syndrome (also known as Foix-Chavany-Marie syndrome).\n", + " definition of HP:6000306 (Autonomic-voluntary dissociation of facial movements)\n", + " \n", + " \n", + " Excessive cleaning\n", + " definition of HP:5200073 (Excessive cleaning)\n", + " \n", + " \n", + " Excessive cleaning of surfaces, living space, or environment that is excessive for the situational context.\n", + " definition of HP:5200073 (Excessive cleaning)\n", + " \n", + " \n", + " Absent testis\n", + " definition of HP:0010469 (Absent testis)\n", + " \n", + " \n", + " Testis not palpable in the scrotum or inguinal canal.\n", + " definition of HP:0010469 (Absent testis)\n", + " \n", + " \n", + " #Absence of palpable testicules #Absent testes #Aplasia of the testes\n", + " definition of HP:0010469 (Absent testis)\n", + " \n", + " \n", + " Grandiose delusion\n", + " definition of HP:5200417 (Grandiose delusion)\n", + " \n", + " \n", + " Delusional beliefs of a fantastical, expansive, or supernatural quality related to power, ability, wealth, or station. They are often related to origin (aristocratic lineage, royal birth, being raised as a foster child), possessions (owning vast estates, castles, etc., which are withheld through intrigue), abilities (being great inventors, discoverers, artists, possessors of special wisdom, gifted with inspiration), and status (adviser to prominent diplomats, the true director of political destinies). Grandiose delusions may be related to affective states, substance use, or may occur independently.\n", + " definition of HP:5200417 (Grandiose delusion)\n", + " \n", + " \n", + " #Megalomania\n", + " definition of HP:5200417 (Grandiose delusion)\n", + " \n", + " \n", + " T-shaped uterus\n", + " definition of HP:0031106 (T-shaped uterus)\n", + " \n", + " \n", + " An abnormality of the uterus characterized by a normal uterine outline but with an abnormal T-shaped uterine cavity with narrowing cavity due to thickened lateral walls with a correlation 2/3 uterine corpus and 1/3 cervix. The abnormlaity is said to resemble the letter T in hysterosalpingographic imaging.\n", + " definition of HP:0031106 (T-shaped uterus)\n", + " \n", + " \n", + " Deficit at segmental level\n", + " definition of HP:0034556 (Deficit at segmental level)\n", + " \n", + " \n", + " Refers to distribution of neurological deficits that corresponds to a deficit of a specific spinal segment and all segments below it.\n", + " definition of HP:0034556 (Deficit at segmental level)\n", + " \n", + " \n", + " Endocardial fibrosis\n", + " definition of HP:0006685 (Endocardial fibrosis)\n", + " \n", + " \n", + " The presence of excessive connective tissue in the endocardium.\n", + " definition of HP:0006685 (Endocardial fibrosis)\n", + " \n", + " \n", + " #Endomyocardial fibrosis\n", + " definition of HP:0006685 (Endocardial fibrosis)\n", + " \n", + " \n", + " Hyperkalemia while symptomatic\n", + " definition of HP:6000833 (Hyperkalemia while symptomatic)\n", + " \n", + " \n", + " Increased concentration of potassium in the blood circulation specifically measured during a disease flareup, attack, or exacerbation.\n", + " definition of HP:6000833 (Hyperkalemia while symptomatic)\n", + " \n", + " \n", + " #Hyperkalemia during attack\n", + " definition of HP:6000833 (Hyperkalemia while symptomatic)\n", + " \n", + " \n", + " Recurrent plantar mycosis\n", + " definition of HP:0025472 (Recurrent plantar mycosis)\n", + " \n", + " \n", + " A history of repeated fungal infections located on the sole of the foot, usually manifested by scaling, maceration, and itching.\n", + " definition of HP:0025472 (Recurrent plantar mycosis)\n", + " \n", + " \n", + " Shallow orbits\n", + " definition of HP:0000586 (Shallow orbits)\n", + " \n", + " \n", + " Reduced depth of the orbits associated with prominent-appearing ocular globes.\n", + " definition of HP:0000586 (Shallow orbits)\n", + " \n", + " \n", + " #Decreased depth of eye sockets #Decreased depth of orbits #Shallow eye sockets #Small shallow orbits\n", + " definition of HP:0000586 (Shallow orbits)\n", + " \n", + " \n", + " Congenital pulmonary airway malformation\n", + " definition of HP:0010959 (Congenital pulmonary airway malformation)\n", + " \n", + " \n", + " Congenital pulmonary airway malformation (CPAM) - previously known as congenital cystic adenomatoid malformation (CCAM) - is a relatively rare developmental malformation of the lower respiratory tract. It is a hamartomatous, dysplastic developmental abnormality of the lung characterized by abnormal airway patterning during lung branching morphogenesis and is formed by abnormal branching of the immature bronchioles.\n", + " definition of HP:0010959 (Congenital pulmonary airway malformation)\n", + " \n", + " \n", + " #CCAM #Congenital cystic adenomatoid malformation of the lung #Congenital cystic disease of the lung #Cystic adenomatoid lung disease\n", + " definition of HP:0010959 (Congenital pulmonary airway malformation)\n", + " \n", + " \n", + " Orthostatic hypotension due to autonomic dysfunction\n", + " definition of HP:0004926 (Orthostatic hypotension due to autonomic dysfunction)\n", + " \n", + " \n", + " Abnormality of chromosome stability\n", + " definition of HP:0003220 (Abnormality of chromosome stability)\n", + " \n", + " \n", + " A type of chromosomal aberration characterized by reduced resistance of chromosomes to change or deterioration.\n", + " definition of HP:0003220 (Abnormality of chromosome stability)\n", + " \n", + " \n", + " Low 1-minute APGAR score\n", + " definition of HP:0030918 (Low 1-minute APGAR score)\n", + " \n", + " \n", + " #Low one-minute APGAR score\n", + " definition of HP:0030918 (Low 1-minute APGAR score)\n", + " \n", + " \n", + " Anticipatory anxiety\n", + " definition of HP:5200233 (Anticipatory anxiety)\n", + " \n", + " \n", + " A state characterized by future-oriented worry, accompanied by negative affect and autonomic arousal.\n", + " definition of HP:5200233 (Anticipatory anxiety)\n", + " \n", + " \n", + " Delusional memory\n", + " definition of HP:5200409 (Delusional memory)\n", + " \n", + " \n", + " Delusional memory is a memory that is false or fantastically distorted, but held with firm and irrefutable conviction despite evidence to the contrary. It is often seen in psychiatric conditions such as delusional disorders, schizophrenia, and sometimes in severe mood disorders. These memories can be completely fabricated or have a basis in an actual event that has been grossly misinterpreted or altered by the individual's mind.\n", + " definition of HP:5200409 (Delusional memory)\n", + " \n", + " \n", + " #Retrospective delusion\n", + " definition of HP:5200409 (Delusional memory)\n", + " \n", + " \n", + " Paramesangial deposits\n", + " definition of HP:0033233 (Paramesangial deposits)\n", + " \n", + " \n", + " Mesangial immune deposit located adjacent to the paramesangial glomerular basement membrane.\n", + " definition of HP:0033233 (Paramesangial deposits)\n", + " \n", + " \n", + " Osteolysis of scaphoids\n", + " definition of HP:0006202 (Osteolysis of scaphoids)\n", + " \n", + " \n", + " Hypertrophic cardiomyopathy\n", + " definition of HP:0001639 (Hypertrophic cardiomyopathy)\n", + " \n", + " \n", + " Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.\n", + " definition of HP:0001639 (Hypertrophic cardiomyopathy)\n", + " \n", + " \n", + " #Cardiomyopathy, hypertrophic #Enlarged and thickened heart muscle #HCM\n", + " definition of HP:0001639 (Hypertrophic cardiomyopathy)\n", + " \n", + " \n", + " Large forehead\n", + " definition of HP:0002003 (Large forehead)\n", + " \n", + " \n", + " #Increased size of forehead #Increased size of frontal region of face #Large forehead\n", + " definition of HP:0002003 (Large forehead)\n", + " \n", + " \n", + " Sclerotic foci of the humerus\n", + " definition of HP:0003880 (Sclerotic foci of the humerus)\n", + " \n", + " \n", + " #Humeral sclerotic foci\n", + " definition of HP:0003880 (Sclerotic foci of the humerus)\n", + " \n", + " \n", + " Conjunctivitis\n", + " definition of HP:0000509 (Conjunctivitis)\n", + " \n", + " \n", + " Inflammation of the conjunctiva.\n", + " definition of HP:0000509 (Conjunctivitis)\n", + " \n", + " \n", + " #Pink eye\n", + " definition of HP:0000509 (Conjunctivitis)\n", + " \n", + " \n", + " Rest dyspnea\n", + " definition of HP:0033710 (Rest dyspnea)\n", + " \n", + " \n", + " A perception of shortness of breath that occurs independently of exertion.\n", + " definition of HP:0033710 (Rest dyspnea)\n", + " \n", + " \n", + " #Breathlessness at rest #Dyspnea at rest #Dyspnoea at rest #Shortness of breath at rest\n", + " definition of HP:0033710 (Rest dyspnea)\n", + " \n", + " \n", + " Muscle fiber granulofilamentous inclusion bodies\n", + " definition of HP:0034635 (Muscle fiber granulofilamentous inclusion bodies)\n", + " \n", + " \n", + " The presence of inclusion bodies within the cytoplasm of muscle cells that contain a mxiture of granules and filaments.\n", + " definition of HP:0034635 (Muscle fiber granulofilamentous inclusion bodies)\n", + " \n", + " \n", + " Anti-retroviral therapy exposure\n", + " definition of HP:4000178 (Anti-retroviral therapy exposure)\n", + " \n", + " \n", + " History of having been treated with an antiretroviral agent.\n", + " definition of HP:4000178 (Anti-retroviral therapy exposure)\n", + " \n", + " \n", + " Nodular-centrilobular with tree-in-bud pattern on pulmonary HRCT\n", + " definition of HP:0025399 (Nodular-centrilobular with tree-in-bud pattern on pulmonary HRCT)\n", + " \n", + " \n", + " A nodular pattern on pulmonary high-resolution computed tomography that displays a tree-in-bud pattern, representing centrilobular branching structures that resemble a budding tree.\n", + " definition of HP:0025399 (Nodular-centrilobular with tree-in-bud pattern on pulmonary HRCT)\n", + " \n", + " \n", + " Elevated circulating glyoxylic acid concentration\n", + " definition of HP:6000974 (Elevated circulating glyoxylic acid concentration)\n", + " \n", + " \n", + " The concentration of glyoxylic acid in the blood circulation is above the upper limit of normal.\n", + " definition of HP:6000974 (Elevated circulating glyoxylic acid concentration)\n", + " \n", + " \n", + " Mesomelic leg shortening\n", + " definition of HP:0004987 (Mesomelic leg shortening)\n", + " \n", + " \n", + " Shortening of the middle parts of the leg in relation to the upper and terminal segments.\n", + " definition of HP:0004987 (Mesomelic leg shortening)\n", + " \n", + " \n", + " #Mesomelia of the lower limbs #Mesomelic lower limb shortening\n", + " definition of HP:0004987 (Mesomelic leg shortening)\n", + " \n", + " \n", + " Chest pain described as pressure\n", + " definition of HP:6000048 (Chest pain described as pressure)\n", + " \n", + " \n", + " Discomfort in the chest described as pressure, heaviness, or tightness.\n", + " definition of HP:6000048 (Chest pain described as pressure)\n", + " \n", + " \n", + " Talipes cavus equinovarus\n", + " definition of HP:0004696 (Talipes cavus equinovarus)\n", + " \n", + " \n", + " Muscle mounding\n", + " definition of HP:0003719 (Muscle mounding)\n", + " \n", + " \n", + " Percussion-induced, local prolonged contractions (mounding) in muscle persisting for several seconds.\n", + " definition of HP:0003719 (Muscle mounding)\n", + " \n", + " \n", + " Intramural intestinal gas\n", + " definition of HP:6000377 (Intramural intestinal gas)\n", + " \n", + " \n", + " The presence of extraluminal gas within the bowel wall.\n", + " definition of HP:6000377 (Intramural intestinal gas)\n", + " \n", + " \n", + " #Pneumatosis intestinalis\n", + " definition of HP:6000377 (Intramural intestinal gas)\n", + " \n", + " \n", + " Neonatal seizure with unilateral automatism\n", + " definition of HP:0032834 (Neonatal seizure with unilateral automatism)\n", + " \n", + " \n", + " Neonatal seizure with bilateral asymmetric automatisms is a type of neonatal electro-clinical seizure where the electrographic event is correlated with a coordinated motor activity, typically oral, usually with impaired awareness, occurring at one side of the body.\n", + " definition of HP:0032834 (Neonatal seizure with unilateral automatism)\n", + " \n", + " \n", + " Renal interstitial globotriaosylceramide inclusions\n", + " definition of HP:0033064 (Renal interstitial globotriaosylceramide inclusions)\n", + " \n", + " \n", + " Accumulation of globotriaosylceramide (GL-3) in kidney tissues, which can be quantified as the number of globotriaosylceramide (GL-3) inclusions/kidney interstitial capillary (KIC).\n", + " definition of HP:0033064 (Renal interstitial globotriaosylceramide inclusions)\n", + " \n", + " \n", + " Elevated circulating short-chain acylcarnitine concentration\n", + " definition of HP:0035015 (Elevated circulating short-chain acylcarnitine concentration)\n", + " \n", + " \n", + " Concentration of short-chain acylcarnitine in the blood circulation above the upper limit of normal. Acylcarnitines are classified according to the number of carbon atoms in the acyl-chain. Short chain acylcarnitines have between two and five carbon atoms in the acyl-chain (C2-C5),\n", + " definition of HP:0035015 (Elevated circulating short-chain acylcarnitine concentration)\n", + " \n", + " \n", + " Abnormal tibia morphology\n", + " definition of HP:0002992 (Abnormal tibia morphology)\n", + " \n", + " \n", + " Abnormality of the tibia (shinbone).\n", + " definition of HP:0002992 (Abnormal tibia morphology)\n", + " \n", + " \n", + " #Abnormality of the shankbone #Abnormality of the shinbone #Abnormality of tibia morphology\n", + " definition of HP:0002992 (Abnormal tibia morphology)\n", + " \n", + " \n", + " Jaw pain\n", + " definition of HP:0040264 (Jaw pain)\n", + " \n", + " \n", + " An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the jaw.\n", + " definition of HP:0040264 (Jaw pain)\n", + " \n", + " \n", + " #Jaw pain\n", + " definition of HP:0040264 (Jaw pain)\n", + " \n", + " \n", + " Neuroepithelial neoplasm\n", + " definition of HP:0030063 (Neuroepithelial neoplasm)\n", + " \n", + " \n", + " A neoplasm composed of neural epithelium, not necessarily a neoplasm located in the neural epithelium or neuroepithelium.\n", + " definition of HP:0030063 (Neuroepithelial neoplasm)\n", + " \n", + " \n", + " Esophageal hemangioma\n", + " definition of HP:0410270 (Esophageal hemangioma)\n", + " \n", + " \n", + " A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the esophagus.\n", + " definition of HP:0410270 (Esophageal hemangioma)\n", + " \n", + " \n", + " Exposure to vaginal douching\n", + " definition of HP:6001093 (Exposure to vaginal douching)\n", + " \n", + " \n", + " A history of intravaginal cleansing with a liquid solution for personal hygiene or aesthetic reasons.\n", + " definition of HP:6001093 (Exposure to vaginal douching)\n", + " \n", + " \n", + " Cortical radial artery medial/intimal arteriitis\n", + " definition of HP:0033913 (Cortical radial artery medial/intimal arteriitis)\n", + " \n", + " \n", + " Inflammation of a the intima or the entire wall of cortical radial arteries (also known as the interlobular arteries) of the kidney.\n", + " definition of HP:0033913 (Cortical radial artery medial/intimal arteriitis)\n", + " \n", + " \n", + " #Arteritis within interlobular arterial intima/media #Interlobular artery medial/intimal arteriitis\n", + " definition of HP:0033913 (Cortical radial artery medial/intimal arteriitis)\n", + " \n", + " \n", + " Neonatal asphyxia\n", + " definition of HP:0012768 (Neonatal asphyxia)\n", + " \n", + " \n", + " Respiratory failure in the newborn.\n", + " definition of HP:0012768 (Neonatal asphyxia)\n", + " \n", + " \n", + " #Asphyxia neonatorum\n", + " definition of HP:0012768 (Neonatal asphyxia)\n", + " \n", + " \n", + " Undetectable electroretinogram\n", + " definition of HP:0000550 (Undetectable electroretinogram)\n", + " \n", + " \n", + " Lack of any response to stimulation upon electroretinography.\n", + " definition of HP:0000550 (Undetectable electroretinogram)\n", + " \n", + " \n", + " #Abolished electroretinogram #Absent electroretinogram #Extinction of electroretinogram #Extinguished electroretinogram #No light-evoked response on electroretinogram #Undetectable ERG\n", + " definition of HP:0000550 (Undetectable electroretinogram)\n", + " \n", + " \n", + " Extrapyramidal muscular rigidity\n", + " definition of HP:0007076 (Extrapyramidal muscular rigidity)\n", + " \n", + " \n", + " Muscular rigidity (continuous contraction of muscles with constant resistance to passive movement).\n", + " definition of HP:0007076 (Extrapyramidal muscular rigidity)\n", + " \n", + " \n", + " Neurofibroma by anatomical location\n", + " definition of HP:0034761 (Neurofibroma by anatomical location)\n", + " \n", + " \n", + " Neurofibroma categorized according to the anatomical site of origin.\n", + " definition of HP:0034761 (Neurofibroma by anatomical location)\n", + " \n", + " \n", + " Decreased dermal collagen\n", + " definition of HP:0034943 (Decreased dermal collagen)\n", + " \n", + " \n", + " Abnormally reduced amount of collagen fibers in the dermis.\n", + " definition of HP:0034943 (Decreased dermal collagen)\n", + " \n", + " \n", + " Contractures of the proximal interphalangeal joint of the 5th toe\n", + " definition of HP:0100351 (Contractures of the proximal interphalangeal joint of the 5th toe)\n", + " \n", + " \n", + " The proximal interphalangeal joint of the fifth toe cannot be straightened actively or passively.\n", + " definition of HP:0100351 (Contractures of the proximal interphalangeal joint of the 5th toe)\n", + " \n", + " \n", + " #Camptodactyly of the 5th toe #Camptodactyly of the fifth toe\n", + " definition of HP:0100351 (Contractures of the proximal interphalangeal joint of the 5th toe)\n", + " \n", + " \n", + " Ciliary dyskinesia\n", + " definition of HP:0012265 (Ciliary dyskinesia)\n", + " \n", + " \n", + " A deviation from the normally well coordinated pattern of intracellular and intercellular synchrony of motile cilia. Dyskinetic cilia usually beat out of synchrony relative to neighboring cilia.\n", + " definition of HP:0012265 (Ciliary dyskinesia)\n", + " \n", + " \n", + " #Lack of coordinated beating of respiratory cilia\n", + " definition of HP:0012265 (Ciliary dyskinesia)\n", + " \n", + " \n", + " Amyotrophic lateral sclerosis\n", + " definition of HP:0007354 (Amyotrophic lateral sclerosis)\n", + " \n", + " \n", + " Lid lag on downgaze\n", + " definition of HP:0025605 (Lid lag on downgaze)\n", + " \n", + " \n", + " Delayed descent of the upper eyelid on downgaze. Also described by some authors as von Graefe sign.\n", + " definition of HP:0025605 (Lid lag on downgaze)\n", + " \n", + " \n", + " #Eyelid lag #Lid lag\n", + " definition of HP:0025605 (Lid lag on downgaze)\n", + " \n", + " \n", + " Abnormal periodontium morphology\n", + " definition of HP:0410026 (Abnormal periodontium morphology)\n", + " \n", + " \n", + " Any abnormality of the periodontium.\n", + " definition of HP:0410026 (Abnormal periodontium morphology)\n", + " \n", + " \n", + " #Abnormality of the periodontium\n", + " definition of HP:0410026 (Abnormal periodontium morphology)\n", + " \n", + " \n", + " Extrapulmonary tuberculosis\n", + " definition of HP:0032271 (Extrapulmonary tuberculosis)\n", + " \n", + " \n", + " A type of tubercular infection located outside of the lung, which is the most common location of tuberculosis. There are two types of clinical manifestation of tuberculosis (TB) are pulmonary TB (PTB) and extrapulmonary TB (EPTB). The former is most common. EPTB refers to TB involving organs other than the lungs (e.g., pleura, lymph nodes, abdomen, genitourinary tract, skin, joints and bones, or meninges). A patient with both pulmonary and EPTB is classified as a case of PTB.\n", + " definition of HP:0032271 (Extrapulmonary tuberculosis)\n", + " \n", + " \n", + " #Extrapulmonary TB\n", + " definition of HP:0032271 (Extrapulmonary tuberculosis)\n", + " \n", + " \n", + " Enlarged brainstem\n", + " definition of HP:0012755 (Enlarged brainstem)\n", + " \n", + " \n", + " Abnormal increase in size of the brainstem.\n", + " definition of HP:0012755 (Enlarged brainstem)\n", + " \n", + " \n", + " Proximally placed lunate\n", + " definition of HP:0004250 (Proximally placed lunate)\n", + " \n", + " \n", + " Leukonychia\n", + " definition of HP:0001820 (Leukonychia)\n", + " \n", + " \n", + " White discoloration of the nails.\n", + " definition of HP:0001820 (Leukonychia)\n", + " \n", + " \n", + " #White discoloration of nails\n", + " definition of HP:0001820 (Leukonychia)\n", + " \n", + " \n", + " Effort-induced polymorphic ventricular tachycardia\n", + " definition of HP:0004758 (Effort-induced polymorphic ventricular tachycardia)\n", + " \n", + " \n", + " Polymorphic ventricular arrhythmias of varying morphologythat do not exist under resting conditions but appear only upon physical exercise or catecholamine administration.\n", + " definition of HP:0004758 (Effort-induced polymorphic ventricular tachycardia)\n", + " \n", + " \n", + " #Catecholaminergic polymorphic ventricular tachycardia #Exercise-induced polymorphic ventricular tachycardia\n", + " definition of HP:0004758 (Effort-induced polymorphic ventricular tachycardia)\n", + " \n", + " \n", + " Phenylpyruvic acidemia\n", + " definition of HP:0004920 (Phenylpyruvic acidemia)\n", + " \n", + " \n", + " Chromosome breakage\n", + " definition of HP:0040012 (Chromosome breakage)\n", + " \n", + " \n", + " Elevated rate of chromosomal breakage or interchanges occurring either spontaneously or following exposure to various DNA-damaging agents. This feature may be assayed by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents.\n", + " definition of HP:0040012 (Chromosome breakage)\n", + " \n", + " \n", + " #High frequency of chromosome breaks in lymphocytes #Increased chromosomal breakage #Increased chromosomal breakage rate #Multiple chromosomal breaks #Tendency to chromosomal breakage\n", + " definition of HP:0040012 (Chromosome breakage)\n", + " \n", + " \n", + " Short second metatarsal\n", + " definition of HP:0011845 (Short second metatarsal)\n", + " \n", + " \n", + " Short (hypoplastic) second metatarsal bone.\n", + " definition of HP:0011845 (Short second metatarsal)\n", + " \n", + " \n", + " #Short 2nd long bone of foot\n", + " definition of HP:0011845 (Short second metatarsal)\n", + " \n", + " \n", + " Anti-GABA(B)R antibody\n", + " definition of HP:5000010 (Anti-GABA(B)R antibody)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against gamma-aminobutyric acid B receptor, i.e., GABA(B)R.\n", + " definition of HP:5000010 (Anti-GABA(B)R antibody)\n", + " \n", + " \n", + " #Anti-gamma-aminobutyric acid B receptor antibody\n", + " definition of HP:5000010 (Anti-GABA(B)R antibody)\n", + " \n", + " \n", + " Reduced CSF lactate\n", + " definition of HP:0030086 (Reduced CSF lactate)\n", + " \n", + " \n", + " Decreased concentration of lactate in the cerebrospinal fluid.\n", + " definition of HP:0030086 (Reduced CSF lactate)\n", + " \n", + " \n", + " #Hypolactatorachia\n", + " definition of HP:0030086 (Reduced CSF lactate)\n", + " \n", + " \n", + " Sirenomelia\n", + " definition of HP:0010497 (Sirenomelia)\n", + " \n", + " \n", + " A developmental defect in which the legs are fused together.\n", + " definition of HP:0010497 (Sirenomelia)\n", + " \n", + " \n", + " Common carotid artery aneurysm\n", + " definition of HP:0034325 (Common carotid artery aneurysm)\n", + " \n", + " \n", + " An abnormal widening (dilatation) of the common carotid artery.\n", + " definition of HP:0034325 (Common carotid artery aneurysm)\n", + " \n", + " \n", + " Broad distal phalanx of the 4th toe\n", + " definition of HP:0100432 (Broad distal phalanx of the 4th toe)\n", + " \n", + " \n", + " #Broad outermost bone of the 4th toe #Wide outermost bone of the 4th toe\n", + " definition of HP:0100432 (Broad distal phalanx of the 4th toe)\n", + " \n", + " \n", + " Pulmonary hypoplasia\n", + " definition of HP:0002089 (Pulmonary hypoplasia)\n", + " \n", + " \n", + " #Hypoplastic lung #Hypoplastic lungs #Lung hypoplasia #Poorly developed lungs #Small lung #Underdeveloped lung\n", + " definition of HP:0002089 (Pulmonary hypoplasia)\n", + " \n", + " \n", + " Fasting hyperinsulinemia\n", + " definition of HP:0008283 (Fasting hyperinsulinemia)\n", + " \n", + " \n", + " An increased concentration of insulin in the blood in the fasting state, i.e., not as the response to food intake.\n", + " definition of HP:0008283 (Fasting hyperinsulinemia)\n", + " \n", + " \n", + " #High blood insulin levels while fasting\n", + " definition of HP:0008283 (Fasting hyperinsulinemia)\n", + " \n", + " \n", + " Ivory epiphyses of the 3rd toe\n", + " definition of HP:0100061 (Ivory epiphyses of the 3rd toe)\n", + " \n", + " \n", + " Epiphyses of the 3rd toe are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.\n", + " definition of HP:0100061 (Ivory epiphyses of the 3rd toe)\n", + " \n", + " \n", + " #Increased bone density of end part of the 3rd toe bone\n", + " definition of HP:0100061 (Ivory epiphyses of the 3rd toe)\n", + " \n", + " \n", + " Urticarial plaque\n", + " definition of HP:0030351 (Urticarial plaque)\n", + " \n", + " \n", + " A well-circumscribed, intensely pruritic, raised wheal (edema of the superficial skin) typically 1 to 2 cm in diameter.\n", + " definition of HP:0030351 (Urticarial plaque)\n", + " \n", + " \n", + " Writer's cramp\n", + " definition of HP:0002356 (Writer's cramp)\n", + " \n", + " \n", + " A focal dystonia of the fingers, hand, and/or forearm that appears when the affected person attempts to do a task that requires fine motor movements such as writing or playing a musical instrument.\n", + " definition of HP:0002356 (Writer's cramp)\n", + " \n", + " \n", + " #Writer's cramp\n", + " definition of HP:0002356 (Writer's cramp)\n", + " \n", + " \n", + " Abnormal dark-adapted bright flash electroretinogram\n", + " definition of HP:0030470 (Abnormal dark-adapted bright flash electroretinogram)\n", + " \n", + " \n", + " Gait ataxia\n", + " definition of HP:0002066 (Gait ataxia)\n", + " \n", + " \n", + " A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.\n", + " definition of HP:0002066 (Gait ataxia)\n", + " \n", + " \n", + " #Ataxia of gait #Ataxic gait #Inability to coordinate movements when walking\n", + " definition of HP:0002066 (Gait ataxia)\n", + " \n", + " \n", + " Anterior pituitary hypoplasia\n", + " definition of HP:0010627 (Anterior pituitary hypoplasia)\n", + " \n", + " \n", + " Underdevelopment of the anterior pituitary gland.\n", + " definition of HP:0010627 (Anterior pituitary hypoplasia)\n", + " \n", + " \n", + " #Small anterior pituitary lobe #Underdeveloped pituitary gland\n", + " definition of HP:0010627 (Anterior pituitary hypoplasia)\n", + " \n", + " \n", + " Basal ganglia edema\n", + " definition of HP:0025039 (Basal ganglia edema)\n", + " \n", + " \n", + " Swelling within the basal ganglia due to the accumulation of fluid.\n", + " definition of HP:0025039 (Basal ganglia edema)\n", + " \n", + " \n", + " #Basal ganglia edema #Edema of the basal ganglia #Oedema of the basal ganglia\n", + " definition of HP:0025039 (Basal ganglia edema)\n", + " \n", + " \n", + " Increased activity of mitochondrial respiratory chain\n", + " definition of HP:0040015 (Increased activity of mitochondrial respiratory chain)\n", + " \n", + " \n", + " Elevated circulating sebacic acid concentration\n", + " definition of HP:0033325 (Elevated circulating sebacic acid concentration)\n", + " \n", + " \n", + " Increased concentration of sebacic acid in the blood circulation.\n", + " definition of HP:0033325 (Elevated circulating sebacic acid concentration)\n", + " \n", + " \n", + " Generalized muscular appearance from birth\n", + " definition of HP:0003716 (Generalized muscular appearance from birth)\n", + " \n", + " \n", + " #Generalised muscular appearance from birth\n", + " definition of HP:0003716 (Generalized muscular appearance from birth)\n", + " \n", + " \n", + " Osteolytic defects of the distal phalanx of the 2nd finger\n", + " definition of HP:0009561 (Osteolytic defects of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Dissolution or degeneration of bone tissue of the distal phalanx of the 2nd finger.\n", + " definition of HP:0009561 (Osteolytic defects of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Acro-osteolysis of index finger #Acro-osteolysis of terminal index finger phalanx #Osteolytic defects of the outermost bone of the 2nd finger\n", + " definition of HP:0009561 (Osteolytic defects of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Reduced Acyl-CoA:dihydroxyacetone phosphate acyltransferase activity in cultured fibroblasts\n", + " definition of HP:6000426 (Reduced Acyl-CoA:dihydroxyacetone phosphate acyltransferase activity in cultured fibroblasts)\n", + " \n", + " \n", + " Activity of acyl-CoA:dihydroxyacetone phosphate acyltransferase below the lower limit of normal in cultured fibroblasts.\n", + " definition of HP:6000426 (Reduced Acyl-CoA:dihydroxyacetone phosphate acyltransferase activity in cultured fibroblasts)\n", + " \n", + " \n", + " Neurocytoma\n", + " definition of HP:0030064 (Neurocytoma)\n", + " \n", + " \n", + " A benign brain tumor composed of neural elements which most often arise from the septum pellucidum and the walls of the lateral ventricles.\n", + " definition of HP:0030064 (Neurocytoma)\n", + " \n", + " \n", + " Flared radial metaphysis\n", + " definition of HP:0004018 (Flared radial metaphysis)\n", + " \n", + " \n", + " The presence of a splayed (i.e.,flared) metaphyseal segment of the radius.\n", + " definition of HP:0004018 (Flared radial metaphysis)\n", + " \n", + " \n", + " Decreased growth hormone responses to growth hormone-releasing hormone challenge\n", + " definition of HP:0033579 (Decreased growth hormone responses to growth hormone-releasing hormone challenge)\n", + " \n", + " \n", + " Insufficient growth hormone secretion following administration of growth hormone-releasing hormone.\n", + " definition of HP:0033579 (Decreased growth hormone responses to growth hormone-releasing hormone challenge)\n", + " \n", + " \n", + " #Impaired growth hormone secretory responses after growth hormone-releasing hormone challenge\n", + " definition of HP:0033579 (Decreased growth hormone responses to growth hormone-releasing hormone challenge)\n", + " \n", + " \n", + " Located on the chest\n", + " definition of HP:6000051 (Located on the chest)\n", + " \n", + " \n", + " Applies to a finding that is situated or occurring around the thorax (chest).\n", + " definition of HP:6000051 (Located on the chest)\n", + " \n", + " \n", + " Abnormality of head or neck\n", + " definition of HP:0000152 (Abnormality of head or neck)\n", + " \n", + " \n", + " An abnormality of head and neck.\n", + " definition of HP:0000152 (Abnormality of head or neck)\n", + " \n", + " \n", + " #Abnormality of head or neck #Head and neck abnormality\n", + " definition of HP:0000152 (Abnormality of head or neck)\n", + " \n", + " \n", + " Diffuse hepatic steatosis\n", + " definition of HP:0006555 (Diffuse hepatic steatosis)\n", + " \n", + " \n", + " A diffuse form of hepatic steatosis.\n", + " definition of HP:0006555 (Diffuse hepatic steatosis)\n", + " \n", + " \n", + " #Hepatic steatosis, diffuse\n", + " definition of HP:0006555 (Diffuse hepatic steatosis)\n", + " \n", + " \n", + " Carcinoid tumor of the pancreas\n", + " definition of HP:6000233 (Carcinoid tumor of the pancreas)\n", + " \n", + " \n", + " A carcinoid tumor of the pancreas (CTP) is a rare neuroendocrine tumor arising from the serotonin-secreting cells (enterochromaffin or Kultscitsky's cells).\n", + " definition of HP:6000233 (Carcinoid tumor of the pancreas)\n", + " \n", + " \n", + " Muscular ventricular septal defect\n", + " definition of HP:0011623 (Muscular ventricular septal defect)\n", + " \n", + " \n", + " The trabecular septum is the largest part of the interventricular septum. It extends from the membranous septum to the apex and superiorly to the infundibular septum. A defect in the trabecular septum is called muscular VSD if the defect is completely rimmed by muscle.\n", + " definition of HP:0011623 (Muscular ventricular septal defect)\n", + " \n", + " \n", + " #Type 4 ventricular septal defect\n", + " definition of HP:0011623 (Muscular ventricular septal defect)\n", + " \n", + " \n", + " Elevated brain choline level by MRS\n", + " definition of HP:0012706 (Elevated brain choline level by MRS)\n", + " \n", + " \n", + " An increase in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS).\n", + " definition of HP:0012706 (Elevated brain choline level by MRS)\n", + " \n", + " \n", + " Abnormal circulating coenzyme concentration\n", + " definition of HP:0034616 (Abnormal circulating coenzyme concentration)\n", + " \n", + " \n", + " Concentration of a coenzyme (an organic molecule that binds to the active sites of an enzyme to promote the catalysis of a reaction) is above or below the limits of normal.\n", + " definition of HP:0034616 (Abnormal circulating coenzyme concentration)\n", + " \n", + " \n", + " Frontoparietal cortical dysplasia\n", + " definition of HP:0006930 (Frontoparietal cortical dysplasia)\n", + " \n", + " \n", + " The presence of developmental dysplasia of the cortex of frontal lobe and the cortex of parietal lobe.\n", + " definition of HP:0006930 (Frontoparietal cortical dysplasia)\n", + " \n", + " \n", + " Arcuate artery intima/media granulomatous arteriitis\n", + " definition of HP:0033949 (Arcuate artery intima/media granulomatous arteriitis)\n", + " \n", + " \n", + " A type of arcuate artery intima/media granulomatous arteriitis characterized by circumscribed inflammatory lesions comprised primarily of macrophages present in inflamed arteries.\n", + " definition of HP:0033949 (Arcuate artery intima/media granulomatous arteriitis)\n", + " \n", + " \n", + " #Granulomatous arteritis within arcuate arterial intima/media\n", + " definition of HP:0033949 (Arcuate artery intima/media granulomatous arteriitis)\n", + " \n", + " \n", + " Disease remission\n", + " definition of HP:0034382 (Disease remission)\n", + " \n", + " \n", + " A decrease in or disappearance of signs and symptoms typically associated with a disease course.\n", + " definition of HP:0034382 (Disease remission)\n", + " \n", + " \n", + " False perception of self-motion\n", + " definition of HP:4000032 (False perception of self-motion)\n", + " \n", + " \n", + " A perception that one's body is moving or swaying despite lack of motion of the body.\n", + " definition of HP:4000032 (False perception of self-motion)\n", + " \n", + " \n", + " Absent in utero ossification of vertebral bodies\n", + " definition of HP:0008435 (Absent in utero ossification of vertebral bodies)\n", + " \n", + " \n", + " Choreoathetosis\n", + " definition of HP:0001266 (Choreoathetosis)\n", + " \n", + " \n", + " Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).\n", + " definition of HP:0001266 (Choreoathetosis)\n", + " \n", + " \n", + " #Choreoathetoid movements\n", + " definition of HP:0001266 (Choreoathetosis)\n", + " \n", + " \n", + " Skeletal muscle atrophy\n", + " definition of HP:0003202 (Skeletal muscle atrophy)\n", + " \n", + " \n", + " The presence of skeletal muscular atrophy (which is also known as amyotrophy).\n", + " definition of HP:0003202 (Skeletal muscle atrophy)\n", + " \n", + " \n", + " #Amyotrophy #Amyotrophy involving the extremities #Muscle atrophy #Muscle atrophy, neurogenic #Muscle degeneration #Muscle hypotrophy #Muscle wasting #Muscular atrophy #Neurogenic muscle atrophy #Neurogenic muscle atrophy, especially in the lower limbs #Neurogenic muscular atrophy\n", + " definition of HP:0003202 (Skeletal muscle atrophy)\n", + " \n", + " \n", + " Immunologic hypersensitivity\n", + " definition of HP:0100326 (Immunologic hypersensitivity)\n", + " \n", + " \n", + " Immunological states where the immune system produces harmful responses upon reexposure to sensitizing antigens.\n", + " definition of HP:0100326 (Immunologic hypersensitivity)\n", + " \n", + " \n", + " Abnormal upper limb bone morphology\n", + " definition of HP:0040070 (Abnormal upper limb bone morphology)\n", + " \n", + " \n", + " #Abnormal morphology of bones of the upper limbs #Abnormal shape of bones of the upper limbs #Abnormality of upper limb bone\n", + " definition of HP:0040070 (Abnormal upper limb bone morphology)\n", + " \n", + " \n", + " Hand muscle atrophy\n", + " definition of HP:0009130 (Hand muscle atrophy)\n", + " \n", + " \n", + " Muscular atrophy involving the muscles of the hand.\n", + " definition of HP:0009130 (Hand muscle atrophy)\n", + " \n", + " \n", + " #Amyotrophy involving the musculature of the hand #Amyotrophy of hand muscles #Hand muscle degeneration #Hand muscle wasting #Hand muscle wasting, bilateral\n", + " definition of HP:0009130 (Hand muscle atrophy)\n", + " \n", + " \n", + " Sudden cardiac death\n", + " definition of HP:0001645 (Sudden cardiac death)\n", + " \n", + " \n", + " The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).\n", + " definition of HP:0001645 (Sudden cardiac death)\n", + " \n", + " \n", + " #Premature sudden cardiac death #Sudden cardiac death\n", + " definition of HP:0001645 (Sudden cardiac death)\n", + " \n", + " \n", + " Lytic defects in metaphyses of the upper limbs\n", + " definition of HP:0003851 (Lytic defects in metaphyses of the upper limbs)\n", + " \n", + " \n", + " Aplasia of the retina\n", + " definition of HP:0010728 (Aplasia of the retina)\n", + " \n", + " \n", + " A developmental defect characterized by absence of the retina.\n", + " definition of HP:0010728 (Aplasia of the retina)\n", + " \n", + " \n", + " #Absent retina\n", + " definition of HP:0010728 (Aplasia of the retina)\n", + " \n", + " \n", + " Complete cleft maxillary alveolar ridge\n", + " definition of HP:5201008 (Complete cleft maxillary alveolar ridge)\n", + " \n", + " \n", + " Cleft maxillary alveolar ridge in which the cleft goes through the entire length of the maxillary alveolar ridge.\n", + " definition of HP:5201008 (Complete cleft maxillary alveolar ridge)\n", + " \n", + " \n", + " Heavy supraorbital ridges\n", + " definition of HP:0002054 (Heavy supraorbital ridges)\n", + " \n", + " \n", + " #Heavy brow of the face #Heavy supraorbital ridge\n", + " definition of HP:0002054 (Heavy supraorbital ridges)\n", + " \n", + " \n", + " Abnormal confrontational visual field test\n", + " definition of HP:0030589 (Abnormal confrontational visual field test)\n", + " \n", + " \n", + " Constrictive pericarditis\n", + " definition of HP:0002563 (Constrictive pericarditis)\n", + " \n", + " \n", + " Presence of a thickened, fibrotic pericardium that forms a non-compliant shell around the heart, and resulting from chronic inflammation of the pericardium.\n", + " definition of HP:0002563 (Constrictive pericarditis)\n", + " \n", + " \n", + " Absent epiphysis of the distal phalanx of the 2nd finger\n", + " definition of HP:0009502 (Absent epiphysis of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Absence of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger.\n", + " definition of HP:0009502 (Absent epiphysis of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Absent end part of the outermost bone of the index finger #Absent ossification/absent epiphysis of terminal index finger phalanx\n", + " definition of HP:0009502 (Absent epiphysis of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Superior rib anomalies\n", + " definition of HP:0005820 (Superior rib anomalies)\n", + " \n", + " \n", + " Diffuse spongiform leukoencephalopathy\n", + " definition of HP:0006943 (Diffuse spongiform leukoencephalopathy)\n", + " \n", + " \n", + " Lytic defects of radial diaphysis\n", + " definition of HP:0004029 (Lytic defects of radial diaphysis)\n", + " \n", + " \n", + " Breakthrough pain\n", + " definition of HP:0032149 (Breakthrough pain)\n", + " \n", + " \n", + " A episode of severe pain that breaks through (i.e., temporarily exacerbates) a period of persistent pain.\n", + " definition of HP:0032149 (Breakthrough pain)\n", + " \n", + " \n", + " Anteriorly placed anus\n", + " definition of HP:0001545 (Anteriorly placed anus)\n", + " \n", + " \n", + " Anterior malposition of the anus.\n", + " definition of HP:0001545 (Anteriorly placed anus)\n", + " \n", + " \n", + " #Anteriorly displaced anus #Anus anteposition\n", + " definition of HP:0001545 (Anteriorly placed anus)\n", + " \n", + " \n", + " Fetal skin edema\n", + " definition of HP:0025672 (Fetal skin edema)\n", + " \n", + " \n", + " A separation of skin in one or more regions of the body or even along the entire length of body wall (to a degree greater than gestational-age related norms) related to pathologically increased fluid accumulation in the subcutaneous tissue.\n", + " definition of HP:0025672 (Fetal skin edema)\n", + " \n", + " \n", + " Excessive licorice consumption\n", + " definition of HP:6000162 (Excessive licorice consumption)\n", + " \n", + " \n", + " Ingestion of large amounts of licorice.\n", + " definition of HP:6000162 (Excessive licorice consumption)\n", + " \n", + " \n", + " Advanced pneumatization of the mastoid process\n", + " definition of HP:0010724 (Advanced pneumatization of the mastoid process)\n", + " \n", + " \n", + " An abnormally advanced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms.\n", + " definition of HP:0010724 (Advanced pneumatization of the mastoid process)\n", + " \n", + " \n", + " Autoimmune antibody positivity\n", + " definition of HP:0030057 (Autoimmune antibody positivity)\n", + " \n", + " \n", + " The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues.\n", + " definition of HP:0030057 (Autoimmune antibody positivity)\n", + " \n", + " \n", + " Cognitive distortion\n", + " definition of HP:5200242 (Cognitive distortion)\n", + " \n", + " \n", + " A cognitive distortion is a maladaptive, exaggerated, or irrational thought pattern.\n", + " definition of HP:5200242 (Cognitive distortion)\n", + " \n", + " \n", + " Impaired self monitoring\n", + " definition of HP:0033070 (Impaired self monitoring)\n", + " \n", + " \n", + " Impaired ability to track awareness of the effect that one's behavior has on others and how it compares with standards or expectations for behavior.\n", + " definition of HP:0033070 (Impaired self monitoring)\n", + " \n", + " \n", + " Subretinal hemorrhage\n", + " definition of HP:0025243 (Subretinal hemorrhage)\n", + " \n", + " \n", + " Accumulation of blood located beneath the neurosensory retina in the space between the neurosensory retina and the retinal pigment epithelium.\n", + " definition of HP:0025243 (Subretinal hemorrhage)\n", + " \n", + " \n", + " #Subretinal haemorrhage #Subretinal heme\n", + " definition of HP:0025243 (Subretinal hemorrhage)\n", + " \n", + " \n", + " Hydroa vacciniforme\n", + " definition of HP:0032381 (Hydroa vacciniforme)\n", + " \n", + " \n", + " In response to the spring sun distinct inflamed reddened skin develops on the ears, nose, cheeks, fingers, backs of the hands, and the lower arms, on which blisters with serous or hemorrhagic content develop. These dry out with the formation of a blackish scab. After shedding of the scab, depressed, varioliform, often hypopigmented scars remain. In addition, hyper- and hypopigmentation are present together, resulting in a polymorphous skin presentation.\n", + " definition of HP:0032381 (Hydroa vacciniforme)\n", + " \n", + " \n", + " #Acute vesiculation and crusting and scarring following sun exposure\n", + " definition of HP:0032381 (Hydroa vacciniforme)\n", + " \n", + " \n", + " Abnormal upper to lower segment ratio\n", + " definition of HP:0012772 (Abnormal upper to lower segment ratio)\n", + " \n", + " \n", + " A deviation from normal of the relation between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis.\n", + " definition of HP:0012772 (Abnormal upper to lower segment ratio)\n", + " \n", + " \n", + " Eye movement-induced pain\n", + " definition of HP:0030857 (Eye movement-induced pain)\n", + " \n", + " \n", + " An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye that is worse in certain directions of gaze and during prolonged gaze holding.\n", + " definition of HP:0030857 (Eye movement-induced pain)\n", + " \n", + " \n", + " Unusual protozoan infection\n", + " definition of HP:0020104 (Unusual protozoan infection)\n", + " \n", + " \n", + " An unusual protozoan infection that is regarded as a sign of a pathological susceptibility to infection by a protozoal agent.\n", + " definition of HP:0020104 (Unusual protozoan infection)\n", + " \n", + " \n", + " Diminished acetyl-CoA C-acyltransferase activity in cultured fibroblasts\n", + " definition of HP:6001024 (Diminished acetyl-CoA C-acyltransferase activity in cultured fibroblasts)\n", + " \n", + " \n", + " Concentration or activity of acetyl-CoA C-acyltransferase (EC 2.3.1.16) as measured in cultured fibroblasts is below the limits of normal. This enzyme catalyzes the reaction acetyl-CoA + an acyl-CoA = a 3-oxoacyl-CoA + CoA. It is also known as 3-ketoacyl-CoA thiolase and beta-ketothiolase.\n", + " definition of HP:6001024 (Diminished acetyl-CoA C-acyltransferase activity in cultured fibroblasts)\n", + " \n", + " \n", + " #Reduced 3-ketoacyl-CoA thiolase activity in cultured fibroblasts\n", + " definition of HP:6001024 (Diminished acetyl-CoA C-acyltransferase activity in cultured fibroblasts)\n", + " \n", + " \n", + " Supernumerary vertebrae\n", + " definition of HP:0002946 (Supernumerary vertebrae)\n", + " \n", + " \n", + " Abnormal lymph-node biospecimen\n", + " definition of HP:0020229 (Abnormal lymph-node biospecimen)\n", + " \n", + " \n", + " Any abnormal phenotypic feature observed in a biospecimen derived from a lymph node, generally obtained by lymph node biopsy (removal of lymph node tissue for microscopic examination).\n", + " definition of HP:0020229 (Abnormal lymph-node biospecimen)\n", + " \n", + " \n", + " Increased VLDL cholesterol concentration\n", + " definition of HP:0003362 (Increased VLDL cholesterol concentration)\n", + " \n", + " \n", + " An increase in the amount of very-low-density lipoprotein cholesterol in the blood.\n", + " definition of HP:0003362 (Increased VLDL cholesterol concentration)\n", + " \n", + " \n", + " #Increased circulating very-low-density lipoprotein cholesterol #Increased circulating very-low-density lipoprotein levels #Increased plasma VLDL cholesterol\n", + " definition of HP:0003362 (Increased VLDL cholesterol concentration)\n", + " \n", + " \n", + " Symmetric great toe depigmentation\n", + " definition of HP:0200015 (Symmetric great toe depigmentation)\n", + " \n", + " \n", + " Macrozoospermia\n", + " definition of HP:0025437 (Macrozoospermia)\n", + " \n", + " \n", + " Increased size of the head of sperm.\n", + " definition of HP:0025437 (Macrozoospermia)\n", + " \n", + " \n", + " #Macrocephalic sperm head\n", + " definition of HP:0025437 (Macrozoospermia)\n", + " \n", + " \n", + " Illusions\n", + " definition of HP:5200205 (Illusions)\n", + " \n", + " \n", + " Perceptual experiences that involve misinterpretations or distortions of sensory stimuli.\n", + " definition of HP:5200205 (Illusions)\n", + " \n", + " \n", + " Abnormal dark-adapted electroretinogram\n", + " definition of HP:0030469 (Abnormal dark-adapted electroretinogram)\n", + " \n", + " \n", + " Anti-West Nile virus antibody positivity\n", + " definition of HP:0430053 (Anti-West Nile virus antibody positivity)\n", + " \n", + " \n", + " The presence of antibodies in the blood circulation that react against a component of the West Nile virus.\n", + " definition of HP:0430053 (Anti-West Nile virus antibody positivity)\n", + " \n", + " \n", + " Bullet-shaped distal phalanx of the 2nd toe\n", + " definition of HP:0010415 (Bullet-shaped distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " An abnormal morphology of the distal phalanx of the second toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.\n", + " definition of HP:0010415 (Bullet-shaped distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Bullet-shaped outermost bone of the 2nd toe\n", + " definition of HP:0010415 (Bullet-shaped distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Axillary freckling\n", + " definition of HP:0000997 (Axillary freckling)\n", + " \n", + " \n", + " The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.\n", + " definition of HP:0000997 (Axillary freckling)\n", + " \n", + " \n", + " Compression-fractured cervical vertebra\n", + " definition of HP:0041086 (Compression-fractured cervical vertebra)\n", + " \n", + " \n", + " A fracture of the cervical vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging.\n", + " definition of HP:0041086 (Compression-fractured cervical vertebra)\n", + " \n", + " \n", + " #Compression fractured cervical vertebra #Wedge fractured cervical vertebra\n", + " definition of HP:0041086 (Compression-fractured cervical vertebra)\n", + " \n", + " \n", + " Absent cervical vertebra\n", + " definition of HP:0031175 (Absent cervical vertebra)\n", + " \n", + " \n", + " A developmental defect characterized by agenesis of one or more vertebral bodies of the cervical spine.\n", + " definition of HP:0031175 (Absent cervical vertebra)\n", + " \n", + " \n", + " Increased CSF glutamine concentration\n", + " definition of HP:0500197 (Increased CSF glutamine concentration)\n", + " \n", + " \n", + " Abnormally increased levels of glutamine in cerebrospinal fluid.\n", + " definition of HP:0500197 (Increased CSF glutamine concentration)\n", + " \n", + " \n", + " #High glutamine levels in cerebrospinal fluid\n", + " definition of HP:0500197 (Increased CSF glutamine concentration)\n", + " \n", + " \n", + " Quadriceps aplasia\n", + " definition of HP:0009788 (Quadriceps aplasia)\n", + " \n", + " \n", + " Absence of the quadriceps muscle.\n", + " definition of HP:0009788 (Quadriceps aplasia)\n", + " \n", + " \n", + " #Absent quads\n", + " definition of HP:0009788 (Quadriceps aplasia)\n", + " \n", + " \n", + " Abnormal circulating chemokine concentration\n", + " definition of HP:0011115 (Abnormal circulating chemokine concentration)\n", + " \n", + " \n", + " An abnormality in the production or cellular release of a chemokine (a class of cytokines).\n", + " definition of HP:0011115 (Abnormal circulating chemokine concentration)\n", + " \n", + " \n", + " #Abnormality of chemokine secretion\n", + " definition of HP:0011115 (Abnormal circulating chemokine concentration)\n", + " \n", + " \n", + " Minor finding\n", + " definition of HP:0045090 (Minor finding)\n", + " \n", + " \n", + " In clinical parlance, findings are occasionally interpreted as being distinctive or minor, reflecting a subjective clinical impression of the importance of a feature for the differential diagnosis. A minor finding is taken to be one that is unlikely to help distinguish the correct diagnosis from other candidates in the differential.\n", + " definition of HP:0045090 (Minor finding)\n", + " \n", + " \n", + " Congenital pseudoarthrosis of the clavicle\n", + " definition of HP:0006585 (Congenital pseudoarthrosis of the clavicle)\n", + " \n", + " \n", + " The two portions of the clavicle (corresponding to the two primary ossification centers of the clavicle) are connected by a fibrous bridge that is contiguous with the periosteum, and a synovial membrane develops, resulting in a clavicle with a bipartite appearance radiographically. Congenital pseudarthrosis of the clavicle generally presents as a painless mass or swelling over the clavicle.\n", + " definition of HP:0006585 (Congenital pseudoarthrosis of the clavicle)\n", + " \n", + " \n", + " #Clavicle pseudoarthrosis #Pseudoarthrosis of clavicle\n", + " definition of HP:0006585 (Congenital pseudoarthrosis of the clavicle)\n", + " \n", + " \n", + " Bronchial diverticula\n", + " definition of HP:0033621 (Bronchial diverticula)\n", + " \n", + " \n", + " Bronchial diverticula are blind-ended outpouchings arising from the bronchial tree. They are commonly pulsion diverticula acquired related to chronic cough. Subcarinal air cyst is thought to represent a small main bronchial diverticulum.\n", + " definition of HP:0033621 (Bronchial diverticula)\n", + " \n", + " \n", + " Tapering pointed ends of distal finger phalanges\n", + " definition of HP:0006224 (Tapering pointed ends of distal finger phalanges)\n", + " \n", + " \n", + " A reduction in diameter of the distal phalanx of finger towards the distal end such that the tip of the phalanx comes to a point (this feature can be observed on radiograms).\n", + " definition of HP:0006224 (Tapering pointed ends of distal finger phalanges)\n", + " \n", + " \n", + " Myxoid liposarcoma\n", + " definition of HP:0012268 (Myxoid liposarcoma)\n", + " \n", + " \n", + " A liposarcoma that contains myxomatous tissue.\n", + " definition of HP:0012268 (Myxoid liposarcoma)\n", + " \n", + " \n", + " Bullet-shaped proximal phalanx of the 4th finger\n", + " definition of HP:0009311 (Bullet-shaped proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 4th finger is affected.\n", + " definition of HP:0009311 (Bullet-shaped proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " #Bullet-shaped innermost ring finger bone\n", + " definition of HP:0009311 (Bullet-shaped proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " Secretory diarrhea\n", + " definition of HP:0005208 (Secretory diarrhea)\n", + " \n", + " \n", + " Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption.\n", + " definition of HP:0005208 (Secretory diarrhea)\n", + " \n", + " \n", + " #Secretory diarrhoea\n", + " definition of HP:0005208 (Secretory diarrhea)\n", + " \n", + " \n", + " Neoplasm of the central nervous system\n", + " definition of HP:0100006 (Neoplasm of the central nervous system)\n", + " \n", + " \n", + " A neoplasm of the central nervous system.\n", + " definition of HP:0100006 (Neoplasm of the central nervous system)\n", + " \n", + " \n", + " #Neoplasm of the CNS #Tumors of the central nervous system #Tumours of the central nervous system\n", + " definition of HP:0100006 (Neoplasm of the central nervous system)\n", + " \n", + " \n", + " Atrophy/Degeneration affecting the central nervous system\n", + " definition of HP:0007367 (Atrophy/Degeneration affecting the central nervous system)\n", + " \n", + " \n", + " #Atrophy/Degeneration affecting the CNS\n", + " definition of HP:0007367 (Atrophy/Degeneration affecting the central nervous system)\n", + " \n", + " \n", + " Excessive piloerection\n", + " definition of HP:6000958 (Excessive piloerection)\n", + " \n", + " \n", + " Abnormally increased degree of goose bump formation, that is, of involuntary formation of bumps on a person's skin at the base of body hairs.\n", + " definition of HP:6000958 (Excessive piloerection)\n", + " \n", + " \n", + " #Excessive cutis anserina #Excessive goose bumps\n", + " definition of HP:6000958 (Excessive piloerection)\n", + " \n", + " \n", + " Premature occlusive vascular stenosis\n", + " definition of HP:0005297 (Premature occlusive vascular stenosis)\n", + " \n", + " \n", + " Peripheral arterial stenosis with onset before the age of 50 years.\n", + " definition of HP:0005297 (Premature occlusive vascular stenosis)\n", + " \n", + " \n", + " Umbilicated nodule\n", + " definition of HP:0025103 (Umbilicated nodule)\n", + " \n", + " \n", + " A type of skin nodule that has a small depression that resembles a navel (i.e., is umbilicated).\n", + " definition of HP:0025103 (Umbilicated nodule)\n", + " \n", + " \n", + " Postcoital vaginal bleeding\n", + " definition of HP:0034264 (Postcoital vaginal bleeding)\n", + " \n", + " \n", + " Postcoital bleeding (PCB) consists of spotting or bleeding after sexual intercourse that is not related to a person's menstrual cycle.\n", + " definition of HP:0034264 (Postcoital vaginal bleeding)\n", + " \n", + " \n", + " #Bleeding after sex\n", + " definition of HP:0034264 (Postcoital vaginal bleeding)\n", + " \n", + " \n", + " Entrapment neuropathy of suprascapular nerve\n", + " definition of HP:0012216 (Entrapment neuropathy of suprascapular nerve)\n", + " \n", + " \n", + " An entrapment neuropathy of the suprascapular nerve, presenting with shoulder weakness confined to the supraspinatus muscle (this muscle initiates shoulder abduction) or to the infraspinatus (this muscle externally rotates the arm), as well as with pain in the posterior part of the shoulder and upper periscapular region.\n", + " definition of HP:0012216 (Entrapment neuropathy of suprascapular nerve)\n", + " \n", + " \n", + " #Suprascapular nerve entrapment\n", + " definition of HP:0012216 (Entrapment neuropathy of suprascapular nerve)\n", + " \n", + " \n", + " Non-accomodative esotropia\n", + " definition of HP:0031760 (Non-accomodative esotropia)\n", + " \n", + " \n", + " A form of esotropia in which the angle of deviation is not affected by accommodative effort.\n", + " definition of HP:0031760 (Non-accomodative esotropia)\n", + " \n", + " \n", + " Basilar artery calcification\n", + " definition of HP:0031310 (Basilar artery calcification)\n", + " \n", + " \n", + " An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the basilar artery.\n", + " definition of HP:0031310 (Basilar artery calcification)\n", + " \n", + " \n", + " Cervical hypoplasia\n", + " definition of HP:0430115 (Cervical hypoplasia)\n", + " \n", + " \n", + " Underdevelopment of the uterine cervix.\n", + " definition of HP:0430115 (Cervical hypoplasia)\n", + " \n", + " \n", + " Decreased sensitivity to hypoxemia\n", + " definition of HP:0005947 (Decreased sensitivity to hypoxemia)\n", + " \n", + " \n", + " Reduced tendency to respond to a reduced concentration of oxygen in the blood by increasing respiration.\n", + " definition of HP:0005947 (Decreased sensitivity to hypoxemia)\n", + " \n", + " \n", + " #Decreased sensitivity to hypoxaemia #Decreased sensitivity to hypoxemia\n", + " definition of HP:0005947 (Decreased sensitivity to hypoxemia)\n", + " \n", + " \n", + " Acute cutaneous wound\n", + " definition of HP:0032675 (Acute cutaneous wound)\n", + " \n", + " \n", + " A cutaneous wound that is proceeding through an orderly and timely reparative process that results in sustained restoration of the anatomic and functional integrity of the skin.\n", + " definition of HP:0032675 (Acute cutaneous wound)\n", + " \n", + " \n", + " Dupuytren contracture\n", + " definition of HP:0005679 (Dupuytren contracture)\n", + " \n", + " \n", + " An abnormality of the hand resulting from contracture of the palmar fascia with a fixed flexion deformity of the metacarpophalangeal (MCP) joints and the proximal interphalangeal (PIP) joints.\n", + " definition of HP:0005679 (Dupuytren contracture)\n", + " \n", + " \n", + " Hamartoma\n", + " definition of HP:0010566 (Hamartoma)\n", + " \n", + " \n", + " A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma.\n", + " definition of HP:0010566 (Hamartoma)\n", + " \n", + " \n", + " Humeral lytic defects\n", + " definition of HP:0003875 (Humeral lytic defects)\n", + " \n", + " \n", + " Destruction of an area of humerus bone due to a disease process, such as cancer.\n", + " definition of HP:0003875 (Humeral lytic defects)\n", + " \n", + " \n", + " #Lytic defects of the humerus\n", + " definition of HP:0003875 (Humeral lytic defects)\n", + " \n", + " \n", + " Fungi allergy\n", + " definition of HP:0410334 (Fungi allergy)\n", + " \n", + " \n", + " Hypersensitivity in form of an adverse immune reaction against fungus.\n", + " definition of HP:0410334 (Fungi allergy)\n", + " \n", + " \n", + " #Allergy to fungi #Fungal allergy #Fungi allergy #Fungus allergy #IgE-mediated fungi allergy #Immunoglobulin E-mediated fungi allergy\n", + " definition of HP:0410334 (Fungi allergy)\n", + " \n", + " \n", + " Increased bone marrow iron\n", + " definition of HP:0034499 (Increased bone marrow iron)\n", + " \n", + " \n", + " An increased amount of iron in the bone marrow.\n", + " definition of HP:0034499 (Increased bone marrow iron)\n", + " \n", + " \n", + " #Bone marrow: iron stores increased\n", + " definition of HP:0034499 (Increased bone marrow iron)\n", + " \n", + " \n", + " Supernormal dark-adapted bright flash electroretinogram b-wave\n", + " definition of HP:0030484 (Supernormal dark-adapted bright flash electroretinogram b-wave)\n", + " \n", + " \n", + " Thyrotoxicosis with diffuse goiter\n", + " definition of HP:0011784 (Thyrotoxicosis with diffuse goiter)\n", + " \n", + " \n", + " #Thyrotoxicosis with diffuse goiter\n", + " definition of HP:0011784 (Thyrotoxicosis with diffuse goiter)\n", + " \n", + " \n", + " Recurrent skin infections\n", + " definition of HP:0001581 (Recurrent skin infections)\n", + " \n", + " \n", + " Infections of the skin that happen multiple times.\n", + " definition of HP:0001581 (Recurrent skin infections)\n", + " \n", + " \n", + " #Cutaneous infections #Recurrent skin infections #Skin infections, recurrent\n", + " definition of HP:0001581 (Recurrent skin infections)\n", + " \n", + " \n", + " Increased retinal vascularity\n", + " definition of HP:0007986 (Increased retinal vascularity)\n", + " \n", + " \n", + " Egg allergy\n", + " definition of HP:0410328 (Egg allergy)\n", + " \n", + " \n", + " Hypersensitivity in form of an adverse immune reaction against eggs.\n", + " definition of HP:0410328 (Egg allergy)\n", + " \n", + " \n", + " #Allergy to eggs #Egg allergy #IgE-mediated egg allergy #Immunoglobulin E-mediated egg allergy\n", + " definition of HP:0410328 (Egg allergy)\n", + " \n", + " \n", + " Anti-phosphatidic acid antibody positivity\n", + " definition of HP:0034096 (Anti-phosphatidic acid antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidic acid.\n", + " definition of HP:0034096 (Anti-phosphatidic acid antibody positivity)\n", + " \n", + " \n", + " Tracheobronchomalacia\n", + " definition of HP:0002786 (Tracheobronchomalacia)\n", + " \n", + " \n", + " Weakness of the cartilage in the trachea and the bronchi, resulting in a floppy (non-rigid) airway. Affected persons may have difficulties to maintain patency of the airways.\n", + " definition of HP:0002786 (Tracheobronchomalacia)\n", + " \n", + " \n", + " Large radial epiphyses\n", + " definition of HP:0004005 (Large radial epiphyses)\n", + " \n", + " \n", + " Supraventricular tachycardia with a concealed accessory pathway on the septum\n", + " definition of HP:0011693 (Supraventricular tachycardia with a concealed accessory pathway on the septum)\n", + " \n", + " \n", + " Hypoplasia of the lacrimal punctum\n", + " definition of HP:0007892 (Hypoplasia of the lacrimal punctum)\n", + " \n", + " \n", + " Underdevelopment of the lacrimal puncta.\n", + " definition of HP:0007892 (Hypoplasia of the lacrimal punctum)\n", + " \n", + " \n", + " #Hypoplasia of the lacrimal puncta #Hypoplastic lacrimal puncta\n", + " definition of HP:0007892 (Hypoplasia of the lacrimal punctum)\n", + " \n", + " \n", + " Metatarsus valgus\n", + " definition of HP:0010508 (Metatarsus valgus)\n", + " \n", + " \n", + " A condition in which the anterior part of the foot rotates outward away from the midline of the body and the heel remains straight.\n", + " definition of HP:0010508 (Metatarsus valgus)\n", + " \n", + " \n", + " Curved toe phalanx\n", + " definition of HP:0010176 (Curved toe phalanx)\n", + " \n", + " \n", + " A deviation from the normal straight form of one or more toe phalanges.\n", + " definition of HP:0010176 (Curved toe phalanx)\n", + " \n", + " \n", + " #Curved phalanges of the toes #Curved toe bone\n", + " definition of HP:0010176 (Curved toe phalanx)\n", + " \n", + " \n", + " Inappropriately normal thyroid-stimulating hormone level\n", + " definition of HP:0033075 (Inappropriately normal thyroid-stimulating hormone level)\n", + " \n", + " \n", + " A normal or elevated serum thyroid-stimulating hormone (TSH) level in the face of an elevation in circulating FT4 and/or FT3.\n", + " definition of HP:0033075 (Inappropriately normal thyroid-stimulating hormone level)\n", + " \n", + " \n", + " #Inappropriately normal TSH\n", + " definition of HP:0033075 (Inappropriately normal thyroid-stimulating hormone level)\n", + " \n", + " \n", + " Abnormal pulmonary fissure morphology\n", + " definition of HP:0032991 (Abnormal pulmonary fissure morphology)\n", + " \n", + " \n", + " An abnormal form or number of the pulmonary fissures.\n", + " definition of HP:0032991 (Abnormal pulmonary fissure morphology)\n", + " \n", + " \n", + " Preauricular skin furrow\n", + " definition of HP:0004450 (Preauricular skin furrow)\n", + " \n", + " \n", + " A groove of the skin immediately in front of the ear.\n", + " definition of HP:0004450 (Preauricular skin furrow)\n", + " \n", + " \n", + " #Preauricular skin furrows #Preauricular skin groove #Preauricular skin sulcus #Skin groove in front of the ear #Skin sulcus in front of the ear\n", + " definition of HP:0004450 (Preauricular skin furrow)\n", + " \n", + " \n", + " Mesangial hypercellularity\n", + " definition of HP:0012574 (Mesangial hypercellularity)\n", + " \n", + " \n", + " Increased numbers of mesangial cells per glomerulus, defined as more than 3 nuclei fully surrounded by matrix in one or more mesangial areas, not including perihilar region, on a standard 3-micron-thick tissue section, best evaluated on periodic acid-Schiff (PAS) stain.\n", + " definition of HP:0012574 (Mesangial hypercellularity)\n", + " \n", + " \n", + " #Mesangial proliferation\n", + " definition of HP:0012574 (Mesangial hypercellularity)\n", + " \n", + " \n", + " Triangular epiphysis of the proximal phalanx of the hallux\n", + " definition of HP:0010137 (Triangular epiphysis of the proximal phalanx of the hallux)\n", + " \n", + " \n", + " #Triangular end part of the innermost bone of the big toe\n", + " definition of HP:0010137 (Triangular epiphysis of the proximal phalanx of the hallux)\n", + " \n", + " \n", + " Beta-aminoisobutyric aciduria\n", + " definition of HP:0032480 (Beta-aminoisobutyric aciduria)\n", + " \n", + " \n", + " An increased amount of beta-aminoisobutyric acid in the urine. Beta-aminoisobutyric acid is a non-protein amino acid originating from the catabolism of thymine and valine.\n", + " definition of HP:0032480 (Beta-aminoisobutyric aciduria)\n", + " \n", + " \n", + " Focal emotional seizure with crying\n", + " definition of HP:0010820 (Focal emotional seizure with crying)\n", + " \n", + " \n", + " Focal emotional seizure with crying (dacrystic) is characterized by the presence of stereotyped crying, this may be accompanied by lacrimation, sad facial expression and sobbing. The subjective emotion of sadness may or may not be present.\n", + " definition of HP:0010820 (Focal emotional seizure with crying)\n", + " \n", + " \n", + " #Dacrystic seizure #Dacrystic seizures\n", + " definition of HP:0010820 (Focal emotional seizure with crying)\n", + " \n", + " \n", + " Osteolytic defects of the distal phalanx of the 2nd toe\n", + " definition of HP:0010417 (Osteolytic defects of the distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Genu valgum\n", + " definition of HP:0002857 (Genu valgum)\n", + " \n", + " \n", + " The legs angle inward, such that the knees are close together and the ankles far apart.\n", + " definition of HP:0002857 (Genu valgum)\n", + " \n", + " \n", + " #Genu valga #Genu valgus #Genua valga #Knee joint valgus deformity #Knock knees\n", + " definition of HP:0002857 (Genu valgum)\n", + " \n", + " \n", + " Osteolytic defects of the proximal phalanx of the 2nd finger\n", + " definition of HP:0009584 (Osteolytic defects of the proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Dissolution or degeneration of bone tissue of the proximal phalanx of the 2nd finger.\n", + " definition of HP:0009584 (Osteolytic defects of the proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Lytic defects of proximal index finger phalanx\n", + " definition of HP:0009584 (Osteolytic defects of the proximal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Repeated implantation failure\n", + " definition of HP:0033712 (Repeated implantation failure)\n", + " \n", + " \n", + " Repeated implantation failure refers to a situation in which embryos of good quality fail to implant following several in vitro fertilization (IVF) treatment cycles.\n", + " definition of HP:0033712 (Repeated implantation failure)\n", + " \n", + " \n", + " #Recurrent implantation failure\n", + " definition of HP:0033712 (Repeated implantation failure)\n", + " \n", + " \n", + " High-grade vesicoureteral reflux\n", + " definition of HP:0033734 (High-grade vesicoureteral reflux)\n", + " \n", + " \n", + " Vesicoureteral reflux with dilation of the renal calyces (Grade III - V).\n", + " definition of HP:0033734 (High-grade vesicoureteral reflux)\n", + " \n", + " \n", + " Elevated urine 2-trans,4-cis-decadienoylcarnitine level\n", + " definition of HP:6000477 (Elevated urine 2-trans,4-cis-decadienoylcarnitine level)\n", + " \n", + " \n", + " The amount of 2-trans,4-cis-decadienoylcarnitine in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000477 (Elevated urine 2-trans,4-cis-decadienoylcarnitine level)\n", + " \n", + " \n", + " Foot oligodactyly\n", + " definition of HP:0001849 (Foot oligodactyly)\n", + " \n", + " \n", + " A developmental defect resulting in the presence of fewer than the normal number of toes.\n", + " definition of HP:0001849 (Foot oligodactyly)\n", + " \n", + " \n", + " #Missing toes #Oligodactyly of feet\n", + " definition of HP:0001849 (Foot oligodactyly)\n", + " \n", + " \n", + " Eyelid erythema\n", + " definition of HP:0040323 (Eyelid erythema)\n", + " \n", + " \n", + " Redness of the skin of the eyelids, caused by hyperemia of the capillaries in the lower layers of the skin.\n", + " definition of HP:0040323 (Eyelid erythema)\n", + " \n", + " \n", + " #Erythema of eyelid #Erythema of the eyelids #Eyelid erythema #Red eyelid\n", + " definition of HP:0040323 (Eyelid erythema)\n", + " \n", + " \n", + " Ectopic calcification\n", + " definition of HP:0010766 (Ectopic calcification)\n", + " \n", + " \n", + " Deposition of calcium salts in a tissue or location in which calcification does not normally occur.\n", + " definition of HP:0010766 (Ectopic calcification)\n", + " \n", + " \n", + " Short face\n", + " definition of HP:0011219 (Short face)\n", + " \n", + " \n", + " Facial height (length) is more than two standard deviations below the mean (objective); or an apparent decrease in the height (length) of the face (subjective).\n", + " definition of HP:0011219 (Short face)\n", + " \n", + " \n", + " #Decreased height of face #Decreased length of face #Decreased vertical dimension of face #Short face #Short facies #Vertical deficiency of face #Vertical Facial Deficiency #Vertical facial insufficiency #Vertical hypoplasia of face #Vertical insufficiency of face #Vertical shortening of face\n", + " definition of HP:0011219 (Short face)\n", + " \n", + " \n", + " Overmodelled hand bones\n", + " definition of HP:0004285 (Overmodelled hand bones)\n", + " \n", + " \n", + " Smooth tongue\n", + " definition of HP:0010298 (Smooth tongue)\n", + " \n", + " \n", + " Glossy appearance of the entire tongue surface.\n", + " definition of HP:0010298 (Smooth tongue)\n", + " \n", + " \n", + " #Smooth lingual surface #Smooth surface of tongue #Smooth tongue\n", + " definition of HP:0010298 (Smooth tongue)\n", + " \n", + " \n", + " Compression-fractured thoracic vertebra\n", + " definition of HP:0041084 (Compression-fractured thoracic vertebra)\n", + " \n", + " \n", + " A fracture of the thoracic vertebra that is caused by a loss of bone mass (osteoporosis) that occurs as part of aging.\n", + " definition of HP:0041084 (Compression-fractured thoracic vertebra)\n", + " \n", + " \n", + " #Compression fractured thoracic vertebra #Wedge fractured thoracic vertebra\n", + " definition of HP:0041084 (Compression-fractured thoracic vertebra)\n", + " \n", + " \n", + " Enlarged lunula\n", + " definition of HP:6000137 (Enlarged lunula)\n", + " \n", + " \n", + " Abnormal enlargement of the visible portion of the distal nail matrix that extends beyond the proximal nail fold, which is referred to as the lunula.\n", + " definition of HP:6000137 (Enlarged lunula)\n", + " \n", + " \n", + " #Macrolunula #Nails: lunulae enlarged\n", + " definition of HP:6000137 (Enlarged lunula)\n", + " \n", + " \n", + " Moderate expressive language delay\n", + " definition of HP:0011345 (Moderate expressive language delay)\n", + " \n", + " \n", + " A moderate delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.\n", + " definition of HP:0011345 (Moderate expressive language delay)\n", + " \n", + " \n", + " Complete duplication of the middle phalanx of the 5th finger\n", + " definition of HP:0009992 (Complete duplication of the middle phalanx of the 5th finger)\n", + " \n", + " \n", + " Complete duplication of the fifth middle phalanx of hand.\n", + " definition of HP:0009992 (Complete duplication of the middle phalanx of the 5th finger)\n", + " \n", + " \n", + " #Complete duplication of the middle little finger bone #Complete duplication of the middle pinkie finger bone #Complete duplication of the middle pinky finger bone\n", + " definition of HP:0009992 (Complete duplication of the middle phalanx of the 5th finger)\n", + " \n", + " \n", + " Staghorn calculus\n", + " definition of HP:0033591 (Staghorn calculus)\n", + " \n", + " \n", + " Large branching stones that fill part of all of the renal pelvis and renal calyces and they can be complete or partial depending on the level of occupancy of the collecting system.\n", + " definition of HP:0033591 (Staghorn calculus)\n", + " \n", + " \n", + " #Staghorn renal stone\n", + " definition of HP:0033591 (Staghorn calculus)\n", + " \n", + " \n", + " Abnormal forearm bone morphology\n", + " definition of HP:0040072 (Abnormal forearm bone morphology)\n", + " \n", + " \n", + " #Abnormality of forearm bone\n", + " definition of HP:0040072 (Abnormal forearm bone morphology)\n", + " \n", + " \n", + " Enlarged epiphysis of the proximal phalanx of the 4th toe\n", + " definition of HP:0100194 (Enlarged epiphysis of the proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " #Enlarged end part of the innermost bone of the 4th toe\n", + " definition of HP:0100194 (Enlarged epiphysis of the proximal phalanx of the 4th toe)\n", + " \n", + " \n", + " Subdural hemorrhage\n", + " definition of HP:0100309 (Subdural hemorrhage)\n", + " \n", + " \n", + " Hemorrhage occurring between the dura mater and the arachnoid mater.\n", + " definition of HP:0100309 (Subdural hemorrhage)\n", + " \n", + " \n", + " #Subdural haematoma #Subdural haemorrhage #Subdural hematoma\n", + " definition of HP:0100309 (Subdural hemorrhage)\n", + " \n", + " \n", + " Supraventricular tachycardia\n", + " definition of HP:0004755 (Supraventricular tachycardia)\n", + " \n", + " \n", + " Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles.\n", + " definition of HP:0004755 (Supraventricular tachycardia)\n", + " \n", + " \n", + " #Supraventricular tachyarrhythmia #SVT\n", + " definition of HP:0004755 (Supraventricular tachycardia)\n", + " \n", + " \n", + " Loose body in joint\n", + " definition of HP:6000591 (Loose body in joint)\n", + " \n", + " \n", + " Small fragments of articular cartilage that break off in a joint as a result of a injury, degeneration, or other processes.\n", + " definition of HP:6000591 (Loose body in joint)\n", + " \n", + " \n", + " Lisch nodules\n", + " definition of HP:0009737 (Lisch nodules)\n", + " \n", + " \n", + " The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris..\n", + " definition of HP:0009737 (Lisch nodules)\n", + " \n", + " \n", + " #Iris hamartomas\n", + " definition of HP:0009737 (Lisch nodules)\n", + " \n", + " \n", + " Lattice retinal degeneration\n", + " definition of HP:0007992 (Lattice retinal degeneration)\n", + " \n", + " \n", + " Stippling of the epiphyses of the 3rd finger\n", + " definition of HP:0009419 (Stippling of the epiphyses of the 3rd finger)\n", + " \n", + " \n", + " The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd finger.\n", + " definition of HP:0009419 (Stippling of the epiphyses of the 3rd finger)\n", + " \n", + " \n", + " #Speckled calcifications in end part of middle finger bone\n", + " definition of HP:0009419 (Stippling of the epiphyses of the 3rd finger)\n", + " \n", + " \n", + " Anti-Tr/DNER antibody\n", + " definition of HP:5000034 (Anti-Tr/DNER antibody)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Tr/DNER. Anti-Tr antibodies are directed against cerebellar Purkinje cells (termed anti-Tr or PCA-Tr). Anti-Tr autoantibodies are frequently associated with Hodgkin lymphoma (HL). Anti-Tr antibodies are defined by a specific staining pattern in cerebellar tissue that is characterized by punctate immunoreactivity in both the dendritic tree and soma of Purkinje cells but not in their axons. This characteristic pattern is indicative of the presence of anti-Tr antibodies. The Delta/Notch-like epidermal growth factor-related receptor (DNER) was identified as the target antigen of anti-Tr.\n", + " definition of HP:5000034 (Anti-Tr/DNER antibody)\n", + " \n", + " \n", + " #Anti-delta/notch-like epidermal growth factor-related receptor antibody #PCA-Tr\n", + " definition of HP:5000034 (Anti-Tr/DNER antibody)\n", + " \n", + " \n", + " Hypoplasia of the bladder\n", + " definition of HP:0005343 (Hypoplasia of the bladder)\n", + " \n", + " \n", + " Underdevelopment of the urinary bladder.\n", + " definition of HP:0005343 (Hypoplasia of the bladder)\n", + " \n", + " \n", + " #Hypoplastic bladder #Underdeveloped bladder\n", + " definition of HP:0005343 (Hypoplasia of the bladder)\n", + " \n", + " \n", + " Central giant cell lesion of the jaw\n", + " definition of HP:6000715 (Central giant cell lesion of the jaw)\n", + " \n", + " \n", + " A benign proliferative and asymptomatic intraosseous lesion of the jaw formed by fibrous tissue that contains multiple focus of hemorrhage and an aggregation of multinucleated giant cells.\n", + " definition of HP:6000715 (Central giant cell lesion of the jaw)\n", + " \n", + " \n", + " Cortical pulverulent cataract\n", + " definition of HP:0007780 (Cortical pulverulent cataract)\n", + " \n", + " \n", + " A type of cataract characterized by punctate, dust-like opacities within the cortical region of the lens.\n", + " definition of HP:0007780 (Cortical pulverulent cataract)\n", + " \n", + " \n", + " #Cataracts, cortical pulverulent\n", + " definition of HP:0007780 (Cortical pulverulent cataract)\n", + " \n", + " \n", + " Bullet-shaped distal phalanges of the hand\n", + " definition of HP:0009837 (Bullet-shaped distal phalanges of the hand)\n", + " \n", + " \n", + " Short and wide distal phalanges that taper distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.\n", + " definition of HP:0009837 (Bullet-shaped distal phalanges of the hand)\n", + " \n", + " \n", + " #Bullet-shaped outermost finger bone of the hand\n", + " definition of HP:0009837 (Bullet-shaped distal phalanges of the hand)\n", + " \n", + " \n", + " Medial flaring of the eyebrow\n", + " definition of HP:0010747 (Medial flaring of the eyebrow)\n", + " \n", + " \n", + " An abnormal distribution of eyebrow hair growth in the medial direction.\n", + " definition of HP:0010747 (Medial flaring of the eyebrow)\n", + " \n", + " \n", + " #Medially flared eyebrows\n", + " definition of HP:0010747 (Medial flaring of the eyebrow)\n", + " \n", + " \n", + " Abnormal enchondral ossification\n", + " definition of HP:0003336 (Abnormal enchondral ossification)\n", + " \n", + " \n", + " An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage.\n", + " definition of HP:0003336 (Abnormal enchondral ossification)\n", + " \n", + " \n", + " Elevated aromatase activity\n", + " definition of HP:0034699 (Elevated aromatase activity)\n", + " \n", + " \n", + " Enzyme activity of aromatase above the upper limit of normal.\n", + " definition of HP:0034699 (Elevated aromatase activity)\n", + " \n", + " \n", + " Premature fusion of phalangeal epiphyses\n", + " definition of HP:0006140 (Premature fusion of phalangeal epiphyses)\n", + " \n", + " \n", + " Fusion of the epiphysis and metaphysis of one or more phalanges prior to the normal age or stage of growth.\n", + " definition of HP:0006140 (Premature fusion of phalangeal epiphyses)\n", + " \n", + " \n", + " #Premature fusion of end part of digital bone\n", + " definition of HP:0006140 (Premature fusion of phalangeal epiphyses)\n", + " \n", + " \n", + " Long lower eyelashes\n", + " definition of HP:0040053 (Long lower eyelashes)\n", + " \n", + " \n", + " #Ciliary trichomegaly of lower eyelashes #Increased length of lower eyelashes #Long lower eyelashes\n", + " definition of HP:0040053 (Long lower eyelashes)\n", + " \n", + " \n", + " Placental infarction\n", + " definition of HP:0011416 (Placental infarction)\n", + " \n", + " \n", + " #Placental thromboembolism\n", + " definition of HP:0011416 (Placental infarction)\n", + " \n", + " \n", + " Aplasia/hypoplasia involving bones of the upper limbs\n", + " definition of HP:0006496 (Aplasia/hypoplasia involving bones of the upper limbs)\n", + " \n", + " \n", + " Absence (due to failure to form) or underdevelopment of the bones of the upper limbs.\n", + " definition of HP:0006496 (Aplasia/hypoplasia involving bones of the upper limbs)\n", + " \n", + " \n", + " #Absent/small bones of the upper limbs #Absent/underdeveloped bones of the upper limbs\n", + " definition of HP:0006496 (Aplasia/hypoplasia involving bones of the upper limbs)\n", + " \n", + " \n", + " Abnormal CSF leucine concentration\n", + " definition of HP:0500189 (Abnormal CSF leucine concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of leucine in the cerebrospinal fluid.\n", + " definition of HP:0500189 (Abnormal CSF leucine concentration)\n", + " \n", + " \n", + " #Abnormal leucine levels in cerebrospinal fluid\n", + " definition of HP:0500189 (Abnormal CSF leucine concentration)\n", + " \n", + " \n", + " Abnormal coronary artery physiology\n", + " definition of HP:0025496 (Abnormal coronary artery physiology)\n", + " \n", + " \n", + " Any anomaly of the function of a coronary artery.\n", + " definition of HP:0025496 (Abnormal coronary artery physiology)\n", + " \n", + " \n", + " Quotidian fever\n", + " definition of HP:0033087 (Quotidian fever)\n", + " \n", + " \n", + " Fever that occurs at daily intervals.\n", + " definition of HP:0033087 (Quotidian fever)\n", + " \n", + " \n", + " Curved distal phalanx of the 2nd finger\n", + " definition of HP:0009560 (Curved distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Curved appearance of the distal phalanx of the 2nd finger.\n", + " definition of HP:0009560 (Curved distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Curved outermost bone of the index finger\n", + " definition of HP:0009560 (Curved distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Focal aware emotional seizure with crying\n", + " definition of HP:0032743 (Focal aware emotional seizure with crying)\n", + " \n", + " \n", + " Focal emotional seizure with crying (dacrystic)in which awareness is retained throughout.\n", + " definition of HP:0032743 (Focal aware emotional seizure with crying)\n", + " \n", + " \n", + " Spasticity of pharyngeal muscles\n", + " definition of HP:0002501 (Spasticity of pharyngeal muscles)\n", + " \n", + " \n", + " Sloping ulnar metaphysis\n", + " definition of HP:0004045 (Sloping ulnar metaphysis)\n", + " \n", + " \n", + " A sloped configuration of the metaphysis (shaft) of the ulna.\n", + " definition of HP:0004045 (Sloping ulnar metaphysis)\n", + " \n", + " \n", + " Generalized\n", + " definition of HP:0012837 (Generalized)\n", + " \n", + " \n", + " Affecting all regions without specificity of distribution.\n", + " definition of HP:0012837 (Generalized)\n", + " \n", + " \n", + " #Generalised\n", + " definition of HP:0012837 (Generalized)\n", + " \n", + " \n", + " Abnormal morphology of the cortex of the humerus\n", + " definition of HP:0010629 (Abnormal morphology of the cortex of the humerus)\n", + " \n", + " \n", + " Any abnormality affecting the cortex of the humerus.\n", + " definition of HP:0010629 (Abnormal morphology of the cortex of the humerus)\n", + " \n", + " \n", + " Wide humerus\n", + " definition of HP:0003886 (Wide humerus)\n", + " \n", + " \n", + " #Broad humerus #Wide long bone of upper arm\n", + " definition of HP:0003886 (Wide humerus)\n", + " \n", + " \n", + " Quadriceps muscle weakness\n", + " definition of HP:0003731 (Quadriceps muscle weakness)\n", + " \n", + " \n", + " Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris).\n", + " definition of HP:0003731 (Quadriceps muscle weakness)\n", + " \n", + " \n", + " #Quadriceps weakness\n", + " definition of HP:0003731 (Quadriceps muscle weakness)\n", + " \n", + " \n", + " Wide pubic symphysis\n", + " definition of HP:0003183 (Wide pubic symphysis)\n", + " \n", + " \n", + " Abnormally increased width of the pubic symphysis is the midline cartilaginous joint uniting the superior rami of the left and right pubic bones.\n", + " definition of HP:0003183 (Wide pubic symphysis)\n", + " \n", + " \n", + " #Wide symphysis of pubis\n", + " definition of HP:0003183 (Wide pubic symphysis)\n", + " \n", + " \n", + " Choroid plexus carcinoma\n", + " definition of HP:0030392 (Choroid plexus carcinoma)\n", + " \n", + " \n", + " Intraventricular papillary neoplasm derived from choroid plexus epithelium. Plexus tumors are most common in the lateral and fourth ventricles; while 80% of lateral ventricle tumors present in children, fourth ventricle tumors are evenly distributed in all age groups. Clinically, choroid plexus tumors tend to cause hydrocephalus and increased intracranial pressure. Histologically, choroid plexus papillomas correspond to WHO grade I, choroid plexus carcinomas to WHO grade III.\n", + " definition of HP:0030392 (Choroid plexus carcinoma)\n", + " \n", + " \n", + " Thyroid hypoplasia\n", + " definition of HP:0005990 (Thyroid hypoplasia)\n", + " \n", + " \n", + " Developmental hypoplasia of the thyroid gland.\n", + " definition of HP:0005990 (Thyroid hypoplasia)\n", + " \n", + " \n", + " #Hypoplastic thyroid #Small thyroid gland\n", + " definition of HP:0005990 (Thyroid hypoplasia)\n", + " \n", + " \n", + " Closed comedo\n", + " definition of HP:0025250 (Closed comedo)\n", + " \n", + " \n", + " A comedo in which the top of the pore is not stretched open and thus does not expose the clogged portion (which would appear black), hence the name whitehead.\n", + " definition of HP:0025250 (Closed comedo)\n", + " \n", + " \n", + " #Whitehead\n", + " definition of HP:0025250 (Closed comedo)\n", + " \n", + " \n", + " Increased proportion of naive B cells\n", + " definition of HP:0030371 (Increased proportion of naive B cells)\n", + " \n", + " \n", + " An elevation above the normal proportion of naive B cells (CD19+/CD27-/IgD+/IgM+) relative to total number of B cells. Naive B cells represent one of the subtypes of B cells in the peripheral blood, and are B cells that have not been exposed to antigen.\n", + " definition of HP:0030371 (Increased proportion of naive B cells)\n", + " \n", + " \n", + " Anti-GD1a IgM antibody positivity\n", + " definition of HP:0034120 (Anti-GD1a IgM antibody positivity)\n", + " \n", + " \n", + " The presence of IgM autoantibodies (immunoglobulins) in the blood circulation that react against ganglioside D1a.\n", + " definition of HP:0034120 (Anti-GD1a IgM antibody positivity)\n", + " \n", + " \n", + " Lumbosacral meningocele\n", + " definition of HP:0200133 (Lumbosacral meningocele)\n", + " \n", + " \n", + " Abnormal systemic blood pressure\n", + " definition of HP:0030972 (Abnormal systemic blood pressure)\n", + " \n", + " \n", + " A chronic deviation from normal pressure in the systemic arterial system.\n", + " definition of HP:0030972 (Abnormal systemic blood pressure)\n", + " \n", + " \n", + " #Abnormal systemic BP\n", + " definition of HP:0030972 (Abnormal systemic blood pressure)\n", + " \n", + " \n", + " Velamentous cord insertion\n", + " definition of HP:0030659 (Velamentous cord insertion)\n", + " \n", + " \n", + " Insertion of the umbilical cord into the chorio-amniotic membranes of the placenta.\n", + " definition of HP:0030659 (Velamentous cord insertion)\n", + " \n", + " \n", + " Increased CSF arginine concentration\n", + " definition of HP:0500203 (Increased CSF arginine concentration)\n", + " \n", + " \n", + " Abnormally increased levels of arginine in cerebrospinal fluid.\n", + " definition of HP:0500203 (Increased CSF arginine concentration)\n", + " \n", + " \n", + " #High arginine levels in cerebrospinal fluid\n", + " definition of HP:0500203 (Increased CSF arginine concentration)\n", + " \n", + " \n", + " Adrenal gland agenesis\n", + " definition of HP:0011743 (Adrenal gland agenesis)\n", + " \n", + " \n", + " Absent development of the adrenal gland.\n", + " definition of HP:0011743 (Adrenal gland agenesis)\n", + " \n", + " \n", + " Gastric intraepithelial lymphocytosis\n", + " definition of HP:6000250 (Gastric intraepithelial lymphocytosis)\n", + " \n", + " \n", + " The count of lymphocytes located in the epithelial layer of the gastric mucosa is above the upper limit of normal.\n", + " definition of HP:6000250 (Gastric intraepithelial lymphocytosis)\n", + " \n", + " \n", + " Posteriorly dislocated ulna\n", + " definition of HP:0003984 (Posteriorly dislocated ulna)\n", + " \n", + " \n", + " Increased urinary cysteine level\n", + " definition of HP:0034467 (Increased urinary cysteine level)\n", + " \n", + " \n", + " An increased concentration of cysteine in the urine.\n", + " definition of HP:0034467 (Increased urinary cysteine level)\n", + " \n", + " \n", + " Thoracolumbar kyphosis\n", + " definition of HP:0005619 (Thoracolumbar kyphosis)\n", + " \n", + " \n", + " Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance.\n", + " definition of HP:0005619 (Thoracolumbar kyphosis)\n", + " \n", + " \n", + " #Thoracolumbar gibbus #Thoracolumbar gibbus deformity\n", + " definition of HP:0005619 (Thoracolumbar kyphosis)\n", + " \n", + " \n", + " Rotary nystagmus\n", + " definition of HP:0001583 (Rotary nystagmus)\n", + " \n", + " \n", + " A form of nystagmus in which the eyeball makes rotary motions around the axis.\n", + " definition of HP:0001583 (Rotary nystagmus)\n", + " \n", + " \n", + " #Rotatory Nystagmus\n", + " definition of HP:0001583 (Rotary nystagmus)\n", + " \n", + " \n", + " Patchy sclerosis of the distal phalanx of the 5th finger\n", + " definition of HP:0009243 (Patchy sclerosis of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " Patchy increase in bone density of the distal phalanx of the 5th finger.\n", + " definition of HP:0009243 (Patchy sclerosis of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " #Uneven increase in bone density in the outermost bone of little finger #Uneven increase in bone density in the outermost bone of pinkie finger #Uneven increase in bone density in the outermost bone of pinky finger\n", + " definition of HP:0009243 (Patchy sclerosis of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " Abnormal maternal serum screening\n", + " definition of HP:0011436 (Abnormal maternal serum screening)\n", + " \n", + " \n", + " An abnormally elevated or decreased level of a maternal serum marker analytes used in screening for aneuploidy.\n", + " definition of HP:0011436 (Abnormal maternal serum screening)\n", + " \n", + " \n", + " 2-4 toe cutaneous syndactyly\n", + " definition of HP:0005768 (2-4 toe cutaneous syndactyly)\n", + " \n", + " \n", + " A soft tissue continuity in the anteroposterior axis between the toes 2, 3, and 4.\n", + " definition of HP:0005768 (2-4 toe cutaneous syndactyly)\n", + " \n", + " \n", + " #Soft tissue syndactyly of toes 2, 3, and 4 #Webbed 2nd, 3rd and 4th toes #Webbed second, third and fourth toes\n", + " definition of HP:0005768 (2-4 toe cutaneous syndactyly)\n", + " \n", + " \n", + " Abnormal sacroiliac joint morphology\n", + " definition of HP:0100781 (Abnormal sacroiliac joint morphology)\n", + " \n", + " \n", + " An anomaly of the sacroiliac joint, which connects the base of the spine (sacrum) to the ilium (a hip bone).\n", + " definition of HP:0100781 (Abnormal sacroiliac joint morphology)\n", + " \n", + " \n", + " #Abnormality of the sacroiliac joint\n", + " definition of HP:0100781 (Abnormal sacroiliac joint morphology)\n", + " \n", + " \n", + " Atrioventricular dissociation\n", + " definition of HP:0011709 (Atrioventricular dissociation)\n", + " \n", + " \n", + " Atrioventricular (AV) dissociation is present if the atria and the ventricles are under the control of two separate pacemakers. AV dissociation can occur in the absence of a primary AV conduction disturbance.\n", + " definition of HP:0011709 (Atrioventricular dissociation)\n", + " \n", + " \n", + " Night sweats\n", + " definition of HP:0030166 (Night sweats)\n", + " \n", + " \n", + " Occurrence of excessive sweating during sleep.\n", + " definition of HP:0030166 (Night sweats)\n", + " \n", + " \n", + " #Night sweats #Nocturnal hyperhidrosis\n", + " definition of HP:0030166 (Night sweats)\n", + " \n", + " \n", + " Status cribrosum\n", + " definition of HP:0025012 (Status cribrosum)\n", + " \n", + " \n", + " Diffusely widened perivascular spaces in the basal ganglia, affecting especially the corpus striatum. Status cribrosum is usually symmetrical, with the perivascular spaces showing CSF signal and without diffusion restriction. The word cribriform means sievelike, with multiple perforations.\n", + " definition of HP:0025012 (Status cribrosum)\n", + " \n", + " \n", + " Patchy sclerosis of the middle phalanx of the 5th finger\n", + " definition of HP:0009175 (Patchy sclerosis of the middle phalanx of the 5th finger)\n", + " \n", + " \n", + " Patchy increase in bone density of the middle phalanx of the 5th finger.\n", + " definition of HP:0009175 (Patchy sclerosis of the middle phalanx of the 5th finger)\n", + " \n", + " \n", + " #Uneven increase in bone density in the middle bone of the little finger #Uneven increase in bone density in the middle bone of the pinkie finger #Uneven increase in bone density in the middle bone of the pinky finger\n", + " definition of HP:0009175 (Patchy sclerosis of the middle phalanx of the 5th finger)\n", + " \n", + " \n", + " Abnormal circulating T4 concentration\n", + " definition of HP:0031505 (Abnormal circulating T4 concentration)\n", + " \n", + " \n", + " A deviation from the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3).\n", + " definition of HP:0031505 (Abnormal circulating T4 concentration)\n", + " \n", + " \n", + " #Abnormal circulating T4 level #Abnormal circulating thyroxine level\n", + " definition of HP:0031505 (Abnormal circulating T4 concentration)\n", + " \n", + " \n", + " Decreased testicular size\n", + " definition of HP:0008734 (Decreased testicular size)\n", + " \n", + " \n", + " Reduced volume of the testicle (the male gonad).\n", + " definition of HP:0008734 (Decreased testicular size)\n", + " \n", + " \n", + " #Decreased testicular size #Hypoplastic testes #Small testes #Small testis #Testicular hypoplasia\n", + " definition of HP:0008734 (Decreased testicular size)\n", + " \n", + " \n", + " Abnormality of the amniotic fluid\n", + " definition of HP:0001560 (Abnormality of the amniotic fluid)\n", + " \n", + " \n", + " Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus.\n", + " definition of HP:0001560 (Abnormality of the amniotic fluid)\n", + " \n", + " \n", + " #Abnormal amniotic fluid\n", + " definition of HP:0001560 (Abnormality of the amniotic fluid)\n", + " \n", + " \n", + " Splenic abscess\n", + " definition of HP:0025059 (Splenic abscess)\n", + " \n", + " \n", + " A circumscribed area of pus or necrotic debris in the parenchyma of the spleen.\n", + " definition of HP:0025059 (Splenic abscess)\n", + " \n", + " \n", + " ABO blood group\n", + " definition of HP:0032224 (ABO blood group)\n", + " \n", + " \n", + " The ABO system consists of A and B antigens and antibodies against these antigens.\n", + " definition of HP:0032224 (ABO blood group)\n", + " \n", + " \n", + " Hepatic polyglucosan accumulation\n", + " definition of HP:0034645 (Hepatic polyglucosan accumulation)\n", + " \n", + " \n", + " Intracellular accumulation of polyglucosan bodies-containing amylopectinlike polysaccharide-in the liver.\n", + " definition of HP:0034645 (Hepatic polyglucosan accumulation)\n", + " \n", + " \n", + " #Accumulation of polyglucosan bodies in the liver\n", + " definition of HP:0034645 (Hepatic polyglucosan accumulation)\n", + " \n", + " \n", + " Stippling of the epiphysis of the proximal phalanx of the 3rd toe\n", + " definition of HP:0100166 (Stippling of the epiphysis of the proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the proximal phalanx of the 3rd toe.\n", + " definition of HP:0100166 (Stippling of the epiphysis of the proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Speckled calcifications in of the end part of the innermost bone of the 3rd toe\n", + " definition of HP:0100166 (Stippling of the epiphysis of the proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Brainstem dysplasia\n", + " definition of HP:0002508 (Brainstem dysplasia)\n", + " \n", + " \n", + " A developmental structural anomaly of the stalk-like part of the brain that comprises the midbrain (aka mesencephalon), the pons (aka pons Varolii), and the medulla oblongata, and connects the cerebral hemispheres with the cervical spinal cord.\n", + " definition of HP:0002508 (Brainstem dysplasia)\n", + " \n", + " \n", + " #Brainstem hypoplasia/dysplasia #Malformation of brainstem structures\n", + " definition of HP:0002508 (Brainstem dysplasia)\n", + " \n", + " \n", + " Abnormal periauricular region morphology\n", + " definition of HP:0000383 (Abnormal periauricular region morphology)\n", + " \n", + " \n", + " #Abnormality of periauricular region\n", + " definition of HP:0000383 (Abnormal periauricular region morphology)\n", + " \n", + " \n", + " Increased aromatic amino acid level in urine\n", + " definition of HP:0033090 (Increased aromatic amino acid level in urine)\n", + " \n", + " \n", + " An elevated level of an aromatic amino acid in the urine.\n", + " definition of HP:0033090 (Increased aromatic amino acid level in urine)\n", + " \n", + " \n", + " Isoniazid exposure\n", + " definition of HP:4000137 (Isoniazid exposure)\n", + " \n", + " \n", + " History of having been treateed with isoniazid.\n", + " definition of HP:4000137 (Isoniazid exposure)\n", + " \n", + " \n", + " Fractured epiphysis\n", + " definition of HP:0041147 (Fractured epiphysis)\n", + " \n", + " \n", + " A partial or complete breakage of the epiphysis.\n", + " definition of HP:0041147 (Fractured epiphysis)\n", + " \n", + " \n", + " #bone epiphysis\n", + " definition of HP:0041147 (Fractured epiphysis)\n", + " \n", + " \n", + " Abnormal subpleural morphology\n", + " definition of HP:0031630 (Abnormal subpleural morphology)\n", + " \n", + " \n", + " Any structural anomaly located between the pleura and the chest wall.\n", + " definition of HP:0031630 (Abnormal subpleural morphology)\n", + " \n", + " \n", + " Ectopic accessory toe-like appendage\n", + " definition of HP:0010440 (Ectopic accessory toe-like appendage)\n", + " \n", + " \n", + " In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the fibular side of the foot, next top the little toe), preaxial (on the tibial side of the foot, next to the big toe) or mesoaxial (somewhere central, between big and little toe), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200).\n", + " definition of HP:0010440 (Ectopic accessory toe-like appendage)\n", + " \n", + " \n", + " Decreased renal parenchymal thickness\n", + " definition of HP:0025327 (Decreased renal parenchymal thickness)\n", + " \n", + " \n", + " Reduced dimension of the solid part of the kidney (parenchyma, the renal cortex and medulla) as measured from the collecting system (renal calyces and pelvis) to the border of the kidney. This measurement can be performed by measuring the thickness of the parenchyma in computed tomography scans.\n", + " definition of HP:0025327 (Decreased renal parenchymal thickness)\n", + " \n", + " \n", + " Splanchnic vein thrombosis\n", + " definition of HP:0030247 (Splanchnic vein thrombosis)\n", + " \n", + " \n", + " The term splanchnic vein thrombosis encompasses Budd-Chiari syndrome (hepatic vein thrombosis), extrahepatic portal vein obstruction (EHPVO), and mesenteric vein thrombosis; the word splanchnic is used to refer to the visceral organs (of the abdominal cavity).\n", + " definition of HP:0030247 (Splanchnic vein thrombosis)\n", + " \n", + " \n", + " #Blood clot in splanchnic vein\n", + " definition of HP:0030247 (Splanchnic vein thrombosis)\n", + " \n", + " \n", + " Noncompaction cardiomyopathy\n", + " definition of HP:0012817 (Noncompaction cardiomyopathy)\n", + " \n", + " \n", + " A type of cardiomyopathy characterized anatomically by deep trabeculations in the ventricular wall, which define recesses communicating with the main ventricular chamber.\n", + " definition of HP:0012817 (Noncompaction cardiomyopathy)\n", + " \n", + " \n", + " #Noncompaction of the ventricular myocardium #Spongiform cardiomyopathy\n", + " definition of HP:0012817 (Noncompaction cardiomyopathy)\n", + " \n", + " \n", + " Undermodelled hand bones\n", + " definition of HP:0004292 (Undermodelled hand bones)\n", + " \n", + " \n", + " Enlarged epiphysis of the middle phalanx of the 2nd finger\n", + " definition of HP:0009516 (Enlarged epiphysis of the middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Enlarged end part of the middle bone of the index finger\n", + " definition of HP:0009516 (Enlarged epiphysis of the middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " Bullet-shaped middle phalanx of the 4th finger\n", + " definition of HP:0009296 (Bullet-shaped middle phalanx of the 4th finger)\n", + " \n", + " \n", + " Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 4th finger is affected.\n", + " definition of HP:0009296 (Bullet-shaped middle phalanx of the 4th finger)\n", + " \n", + " \n", + " #Bullet-shaped middle bone of the 4th finger\n", + " definition of HP:0009296 (Bullet-shaped middle phalanx of the 4th finger)\n", + " \n", + " \n", + " Forefoot pronation contracture\n", + " definition of HP:0034678 (Forefoot pronation contracture)\n", + " \n", + " \n", + " Restrictive ventricular septal defect\n", + " definition of HP:0011683 (Restrictive ventricular septal defect)\n", + " \n", + " \n", + " Any ventricular septal defect (VSD) that is small enough to restrict flow across it such that a pressure gradient exists between the two sides of the VSD.\n", + " definition of HP:0011683 (Restrictive ventricular septal defect)\n", + " \n", + " \n", + " Partial development of the penile shaft\n", + " definition of HP:0008708 (Partial development of the penile shaft)\n", + " \n", + " \n", + " Reduced systolic function\n", + " definition of HP:0006673 (Reduced systolic function)\n", + " \n", + " \n", + " Ocular hypertension\n", + " definition of HP:0007906 (Ocular hypertension)\n", + " \n", + " \n", + " Intraocular pressure that is 2 standard deviations above the population mean.\n", + " definition of HP:0007906 (Ocular hypertension)\n", + " \n", + " \n", + " #Elevated intraocular pressure #Elevated IOP #High eye pressure #Increased intraocular pressure #Increased IOP #Raised intraocular pressure #Raised IOP\n", + " definition of HP:0007906 (Ocular hypertension)\n", + " \n", + " \n", + " Anomalous hepatic venous drainage into the left atrium\n", + " definition of HP:0032181 (Anomalous hepatic venous drainage into the left atrium)\n", + " \n", + " \n", + " An abnormality of the hepatic veins, which normally drain de-oxygenated blood from the liver into the inferior vena cava, whereby the hepatic veins drain into the left atrium.\n", + " definition of HP:0032181 (Anomalous hepatic venous drainage into the left atrium)\n", + " \n", + " \n", + " Triangular shaped middle phalanx of the 5th finger\n", + " definition of HP:0009182 (Triangular shaped middle phalanx of the 5th finger)\n", + " \n", + " \n", + " Triangular shaped middle phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx.\n", + " definition of HP:0009182 (Triangular shaped middle phalanx of the 5th finger)\n", + " \n", + " \n", + " #Triangular shaped middle little finger bone #Triangular shaped middle pinkie finger bone #Triangular shaped middle pinky finger bone\n", + " definition of HP:0009182 (Triangular shaped middle phalanx of the 5th finger)\n", + " \n", + " \n", + " Cerebellar dysplasia\n", + " definition of HP:0007033 (Cerebellar dysplasia)\n", + " \n", + " \n", + " Cerebellar dysplasia (abnormal growth or development) is defined by abnormal cerebellar foliation, white matter arborization, and gray-white matter junction. Cerebellar dysplasia is a neuroimaging finding that describes abnormalities of both the cerebellar cortex and white matter and is associated with variable neurodevelopmental outcome. Dysplasia may globally involve the cerebellum or affect only one cerebellar hemisphere. In addition, cerebellar dysplasia may be associated with cortical/subcortical cysts.\n", + " definition of HP:0007033 (Cerebellar dysplasia)\n", + " \n", + " \n", + " Renal interstitial eosinophil infiltration\n", + " definition of HP:0032585 (Renal interstitial eosinophil infiltration)\n", + " \n", + " \n", + " Increased numbers of eosinophils in the interstitial tissues of the kidney.\n", + " definition of HP:0032585 (Renal interstitial eosinophil infiltration)\n", + " \n", + " \n", + " Triangular face\n", + " definition of HP:0000325 (Triangular face)\n", + " \n", + " \n", + " Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.\n", + " definition of HP:0000325 (Triangular face)\n", + " \n", + " \n", + " #Face with broad temples and narrow chin #Inverted triangular face #Triangular face #Triangular facial shape #Triangular facies\n", + " definition of HP:0000325 (Triangular face)\n", + " \n", + " \n", + " Megakaryocyte nucleus hypolobulation\n", + " definition of HP:0031385 (Megakaryocyte nucleus hypolobulation)\n", + " \n", + " \n", + " The presence of megakaryocytes in the bone marrow whose nuclei are less lobulated than expected for the size of the nucleus.\n", + " definition of HP:0031385 (Megakaryocyte nucleus hypolobulation)\n", + " \n", + " \n", + " Transverse terminal lower limb defect\n", + " definition of HP:6000946 (Transverse terminal lower limb defect)\n", + " \n", + " \n", + " A congenital anomaly that appears as an amputation at different levels of the leg, e.g. femur, foreleg, ankle or toe. The limb is missing the terminal (distal) segment(s), with preservation of all the segment(s) proximal to the missing segment.\n", + " definition of HP:6000946 (Transverse terminal lower limb defect)\n", + " \n", + " \n", + " Alopecia universalis\n", + " definition of HP:0002289 (Alopecia universalis)\n", + " \n", + " \n", + " Loss of all hair on the entire body.\n", + " definition of HP:0002289 (Alopecia universalis)\n", + " \n", + " \n", + " #Alopecia, complete\n", + " definition of HP:0002289 (Alopecia universalis)\n", + " \n", + " \n", + " Increased iduronate sulfatase level\n", + " definition of HP:0003538 (Increased iduronate sulfatase level)\n", + " \n", + " \n", + " An increased level of iduronate-2-sulfatase activity in the blood.\n", + " definition of HP:0003538 (Increased iduronate sulfatase level)\n", + " \n", + " \n", + " #Increased serum iduronate sulfatase level\n", + " definition of HP:0003538 (Increased iduronate sulfatase level)\n", + " \n", + " \n", + " Meningitis\n", + " definition of HP:0001287 (Meningitis)\n", + " \n", + " \n", + " Inflammation of the meninges.\n", + " definition of HP:0001287 (Meningitis)\n", + " \n", + " \n", + " Bilateral congenital mydriasis\n", + " definition of HP:0007932 (Bilateral congenital mydriasis)\n", + " \n", + " \n", + " Congenital abnormal dilation of the pupil on both sides.\n", + " definition of HP:0007932 (Bilateral congenital mydriasis)\n", + " \n", + " \n", + " Lymphedema\n", + " definition of HP:0001004 (Lymphedema)\n", + " \n", + " \n", + " Localized fluid retention and tissue swelling caused by a compromised lymphatic system.\n", + " definition of HP:0001004 (Lymphedema)\n", + " \n", + " \n", + " #Lymphatic obstruction #Lymphoedema #Onset of lymphedema around puberty #Swelling caused by excess lymph fluid under skin\n", + " definition of HP:0001004 (Lymphedema)\n", + " \n", + " \n", + " Venous thrombosis\n", + " definition of HP:0004936 (Venous thrombosis)\n", + " \n", + " \n", + " Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow.\n", + " definition of HP:0004936 (Venous thrombosis)\n", + " \n", + " \n", + " #Blood clot in vein\n", + " definition of HP:0004936 (Venous thrombosis)\n", + " \n", + " \n", + " Laterally sloping humeral metaphysis\n", + " definition of HP:0003921 (Laterally sloping humeral metaphysis)\n", + " \n", + " \n", + " #Laterally sloping metaphysis of long bone of upper arm\n", + " definition of HP:0003921 (Laterally sloping humeral metaphysis)\n", + " \n", + " \n", + " Thin bony cortex\n", + " definition of HP:0002753 (Thin bony cortex)\n", + " \n", + " \n", + " Abnormal thinning of the cortical region of bones.\n", + " definition of HP:0002753 (Thin bony cortex)\n", + " \n", + " \n", + " #Thin cortices\n", + " definition of HP:0002753 (Thin bony cortex)\n", + " \n", + " \n", + " L-looping of the right ventricle\n", + " definition of HP:0011544 (L-looping of the right ventricle)\n", + " \n", + " \n", + " Recurrent hypoglycemia\n", + " definition of HP:0001988 (Recurrent hypoglycemia)\n", + " \n", + " \n", + " Recurrent episodes of decreased concentration of glucose in the blood.\n", + " definition of HP:0001988 (Recurrent hypoglycemia)\n", + " \n", + " \n", + " #hypoglycaemia, recurrent #hypoglycemia, recurrent #Hypoglycemic episodes #Recurrent hypoglycaemia #Recurrent hypoglycemic episodes #Recurrent low blood sugar levels\n", + " definition of HP:0001988 (Recurrent hypoglycemia)\n", + " \n", + " \n", + " Posterior communicating artery infundibulum\n", + " definition of HP:0031774 (Posterior communicating artery infundibulum)\n", + " \n", + " \n", + " A funnel-shaped symmetrical enlargement of the origin of the posterior communicating artery at its junction with the internal carotid artery.\n", + " definition of HP:0031774 (Posterior communicating artery infundibulum)\n", + " \n", + " \n", + " Thickened aortic valve cusp\n", + " definition of HP:0031568 (Thickened aortic valve cusp)\n", + " \n", + " \n", + " An abnormally increased thickness of a leaflet of the aortic valve.\n", + " definition of HP:0031568 (Thickened aortic valve cusp)\n", + " \n", + " \n", + " Focal aware sensory seizure\n", + " definition of HP:0032754 (Focal aware sensory seizure)\n", + " \n", + " \n", + " A focal sensory seizure during which awareness is retained throughout the seizure.\n", + " definition of HP:0032754 (Focal aware sensory seizure)\n", + " \n", + " \n", + " Hiatus hernia\n", + " definition of HP:0002036 (Hiatus hernia)\n", + " \n", + " \n", + " The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus.\n", + " definition of HP:0002036 (Hiatus hernia)\n", + " \n", + " \n", + " #Hiatal hernia #Stomach hernia\n", + " definition of HP:0002036 (Hiatus hernia)\n", + " \n", + " \n", + " Anti-varicella-zoster antibody positivity\n", + " definition of HP:0430085 (Anti-varicella-zoster antibody positivity)\n", + " \n", + " \n", + " The presence of antibodies in the blood circulation that react against a component of Varicella-zoster virus.\n", + " definition of HP:0430085 (Anti-varicella-zoster antibody positivity)\n", + " \n", + " \n", + " #Varicella-zoster antibody titer high in blood\n", + " definition of HP:0430085 (Anti-varicella-zoster antibody positivity)\n", + " \n", + " \n", + " Genetic anticipation\n", + " definition of HP:0003743 (Genetic anticipation)\n", + " \n", + " \n", + " A type of autosomal dominant inheritance involving a gene that exhibits anticipation, the increase in severity and/or an earlier age of onset in subsequent generations.\n", + " definition of HP:0003743 (Genetic anticipation)\n", + " \n", + " \n", + " #Autosomal dominant with genetic anticipation\n", + " definition of HP:0003743 (Genetic anticipation)\n", + " \n", + " \n", + " Palmoplantar pustulosis\n", + " definition of HP:0100847 (Palmoplantar pustulosis)\n", + " \n", + " \n", + " A chronic, relapsing, pustular eruption that is localized to the palms and soles.\n", + " definition of HP:0100847 (Palmoplantar pustulosis)\n", + " \n", + " \n", + " #Palmoplantar pustules #Pustulosis of palms and soles #Pustulosis palmaris et plantaris\n", + " definition of HP:0100847 (Palmoplantar pustulosis)\n", + " \n", + " \n", + " Abnormal urine isobutyrylglycine concentration\n", + " definition of HP:0500256 (Abnormal urine isobutyrylglycine concentration)\n", + " \n", + " \n", + " Abnormal concentration of isobutyrylglycine in the urine.\n", + " definition of HP:0500256 (Abnormal urine isobutyrylglycine concentration)\n", + " \n", + " \n", + " #Abnormal urinary isobutyrylglycine levels\n", + " definition of HP:0500256 (Abnormal urine isobutyrylglycine concentration)\n", + " \n", + " \n", + " Severe recurrent varicella\n", + " definition of HP:0005428 (Severe recurrent varicella)\n", + " \n", + " \n", + " Dermal immune complex deposition\n", + " definition of HP:0034643 (Dermal immune complex deposition)\n", + " \n", + " \n", + " Accumulation of antigen-bound antibody in the skin.\n", + " definition of HP:0034643 (Dermal immune complex deposition)\n", + " \n", + " \n", + " Hypoplasia of the iris dilator muscle\n", + " definition of HP:0008345 (Hypoplasia of the iris dilator muscle)\n", + " \n", + " \n", + " Underdevelopment of the dilatator pupillae.\n", + " definition of HP:0008345 (Hypoplasia of the iris dilator muscle)\n", + " \n", + " \n", + " #Hypoplasia of the pupil dilator muscle #Underdeveloped iris dilator muscle #Underdeveloped pupil dilator muscle\n", + " definition of HP:0008345 (Hypoplasia of the iris dilator muscle)\n", + " \n", + " \n", + " Sick sinus syndrome\n", + " definition of HP:0011704 (Sick sinus syndrome)\n", + " \n", + " \n", + " An abnormality involving the generation of the action potential by the sinus node and is characterized by an atrial rate inappropriate for physiological requirements. Manifestations include severe sinus bradycardia, sinus pauses or arrest, sinus node exit block, chronic atrial tachyarrhythmias, alternating periods of atrial bradyarrhythmias and tachyarrhythmias, and inappropriate responses of heart rate during exercise or stress.\n", + " definition of HP:0011704 (Sick sinus syndrome)\n", + " \n", + " \n", + " #Sinoatrial node disease\n", + " definition of HP:0011704 (Sick sinus syndrome)\n", + " \n", + " \n", + " Decreased post-bronchodilator forced expiratory flow 25-75%\n", + " definition of HP:0032361 (Decreased post-bronchodilator forced expiratory flow 25-75%)\n", + " \n", + " \n", + " A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. Here, the test is performed after the administration of a bronchodilating medication.\n", + " definition of HP:0032361 (Decreased post-bronchodilator forced expiratory flow 25-75%)\n", + " \n", + " \n", + " #Decreased post bronchodilator forced expiratory flow 25-75% #Decreased post-bronchodilator FEF25-75% #Decreased postbronchodilator forced expiratory flow 25-75%\n", + " definition of HP:0032361 (Decreased post-bronchodilator forced expiratory flow 25-75%)\n", + " \n", + " \n", + " Retracted tympanic membrane\n", + " definition of HP:6000459 (Retracted tympanic membrane)\n", + " \n", + " \n", + " A condition in which part of the tympanic membrane is pull backed into the middle ear cavity (also called retraction pocket).\n", + " definition of HP:6000459 (Retracted tympanic membrane)\n", + " \n", + " \n", + " Fetal quinine exposure\n", + " definition of HP:0034849 (Fetal quinine exposure)\n", + " \n", + " \n", + " A history of exposure during pregnancy of the mother of a fetus or child to quinine.\n", + " definition of HP:0034849 (Fetal quinine exposure)\n", + " \n", + " \n", + " #Maternal quinine exposure #Quinine exposure during gestation\n", + " definition of HP:0034849 (Fetal quinine exposure)\n", + " \n", + " \n", + " Abnormal brainstem white matter morphology\n", + " definition of HP:0012501 (Abnormal brainstem white matter morphology)\n", + " \n", + " \n", + " An anomaly of the white matter of brainstem.\n", + " definition of HP:0012501 (Abnormal brainstem white matter morphology)\n", + " \n", + " \n", + " #Abnormality of the brainstem white matter\n", + " definition of HP:0012501 (Abnormal brainstem white matter morphology)\n", + " \n", + " \n", + " Bicuspid aortic valve with left-noncoronary cusp fusion\n", + " definition of HP:0031121 (Bicuspid aortic valve with left-noncoronary cusp fusion)\n", + " \n", + " \n", + " A type of bicuspid aortic valve (BAV) characterized by a single raphe between the left and noncoronary cusps (LN fusion pattern). There is thus one completely developed right cusp, two completely developed commissures, and one raphe between the underdeveloped left and noncoronary coronary cusps extending to the corresponding malformed commissure.\n", + " definition of HP:0031121 (Bicuspid aortic valve with left-noncoronary cusp fusion)\n", + " \n", + " \n", + " Abnormal buccal mucosa morphology\n", + " definition of HP:3000019 (Abnormal buccal mucosa morphology)\n", + " \n", + " \n", + " An abnormality of a buccal mucosa.\n", + " definition of HP:3000019 (Abnormal buccal mucosa morphology)\n", + " \n", + " \n", + " #Abnormality of buccal mucosa #Abnormality of cheek mucosa #Abnormality of inside lining of cheek\n", + " definition of HP:3000019 (Abnormal buccal mucosa morphology)\n", + " \n", + " \n", + " Osseous stenosis of the external auditory canal\n", + " definition of HP:0040104 (Osseous stenosis of the external auditory canal)\n", + " \n", + " \n", + " Abnormality of the epiphyses of the feet\n", + " definition of HP:0010631 (Abnormality of the epiphyses of the feet)\n", + " \n", + " \n", + " Any abnormality of the epiphyses of the feet.\n", + " definition of HP:0010631 (Abnormality of the epiphyses of the feet)\n", + " \n", + " \n", + " #Abnormality of the end part of the foot bone\n", + " definition of HP:0010631 (Abnormality of the epiphyses of the feet)\n", + " \n", + " \n", + " Enlarged epiphyses of the 4th finger\n", + " definition of HP:0009396 (Enlarged epiphyses of the 4th finger)\n", + " \n", + " \n", + " Abnormally large size of the epiphyses of the 4th finger with respect to age-dependent norms.\n", + " definition of HP:0009396 (Enlarged epiphyses of the 4th finger)\n", + " \n", + " \n", + " #Enlarged end part of the ring finger bones\n", + " definition of HP:0009396 (Enlarged epiphyses of the 4th finger)\n", + " \n", + " \n", + " Severe limb shortening\n", + " definition of HP:0200083 (Severe limb shortening)\n", + " \n", + " \n", + " #Severe limb shortening\n", + " definition of HP:0200083 (Severe limb shortening)\n", + " \n", + " \n", + " Increased circulating interleukin 18 concentration\n", + " definition of HP:0034447 (Increased circulating interleukin 18 concentration)\n", + " \n", + " \n", + " An increased concentration of interleukin-18 in the blood circulation.\n", + " definition of HP:0034447 (Increased circulating interleukin 18 concentration)\n", + " \n", + " \n", + " #IL-18 high in blood\n", + " definition of HP:0034447 (Increased circulating interleukin 18 concentration)\n", + " \n", + " \n", + " Vulval varicose vein\n", + " definition of HP:0100677 (Vulval varicose vein)\n", + " \n", + " \n", + " Varicosity of veins in the vulval region.\n", + " definition of HP:0100677 (Vulval varicose vein)\n", + " \n", + " \n", + " Abnormal cardiac index\n", + " definition of HP:0033529 (Abnormal cardiac index)\n", + " \n", + " \n", + " Any deviation from the normal value of the cardiac index, defined as cardiac output divided by body surface area.\n", + " definition of HP:0033529 (Abnormal cardiac index)\n", + " \n", + " \n", + " Abnormal skull base morphology\n", + " definition of HP:0002693 (Abnormal skull base morphology)\n", + " \n", + " \n", + " An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components.\n", + " definition of HP:0002693 (Abnormal skull base morphology)\n", + " \n", + " \n", + " #Abnormality of cranial base #Abnormality of the skull base\n", + " definition of HP:0002693 (Abnormal skull base morphology)\n", + " \n", + " \n", + " Abnormal proerythroblast morphology\n", + " definition of HP:0025035 (Abnormal proerythroblast morphology)\n", + " \n", + " \n", + " Anomalous form of the proerythroblast, i.e., the immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers.\n", + " definition of HP:0025035 (Abnormal proerythroblast morphology)\n", + " \n", + " \n", + " Meningocele\n", + " definition of HP:0002435 (Meningocele)\n", + " \n", + " \n", + " Protrusion of the meninges through a defect of the skull or vertebral column.\n", + " definition of HP:0002435 (Meningocele)\n", + " \n", + " \n", + " Spastic paraparesis\n", + " definition of HP:0002313 (Spastic paraparesis)\n", + " \n", + " \n", + " Abnormal pulmonary interstitial morphology\n", + " definition of HP:0006530 (Abnormal pulmonary interstitial morphology)\n", + " \n", + " \n", + " Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis.\n", + " definition of HP:0006530 (Abnormal pulmonary interstitial morphology)\n", + " \n", + " \n", + " #Abnormal lung parenchyma morphology #Abnormality in area between air sacs in lung #Interstitial lung disease #Interstitial pulmonary disease\n", + " definition of HP:0006530 (Abnormal pulmonary interstitial morphology)\n", + " \n", + " \n", + " Decreased circulating UDP glucose-4-epimerase concentration\n", + " definition of HP:0410195 (Decreased circulating UDP glucose-4-epimerase concentration)\n", + " \n", + " \n", + " A decrease in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.\n", + " definition of HP:0410195 (Decreased circulating UDP glucose-4-epimerase concentration)\n", + " \n", + " \n", + " #Decreased circulating uridine diphosphate glucose-4-epimerase concentration #Decreased UDP glucose-4-epimerase level in plasma #Decreased UDP-glucose 4-epimerase level in plasma #Decreased uridine diphosphate glucose-4-epimerase level in plasma\n", + " definition of HP:0410195 (Decreased circulating UDP glucose-4-epimerase concentration)\n", + " \n", + " \n", + " Retinal arteritis\n", + " definition of HP:0008030 (Retinal arteritis)\n", + " \n", + " \n", + " Bracket epiphysis of the middle phalanx of the 2nd toe\n", + " definition of HP:0100112 (Bracket epiphysis of the middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Bracket shaped end part of the middle bone of the 2nd toe\n", + " definition of HP:0100112 (Bracket epiphysis of the middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " Lipodystrophy\n", + " definition of HP:0009125 (Lipodystrophy)\n", + " \n", + " \n", + " Degenerative changes of the fat tissue.\n", + " definition of HP:0009125 (Lipodystrophy)\n", + " \n", + " \n", + " #Inability to make and keep healthy fat tissue\n", + " definition of HP:0009125 (Lipodystrophy)\n", + " \n", + " \n", + " Variable progression rate\n", + " definition of HP:0003682 (Variable progression rate)\n", + " \n", + " \n", + " Applies to a disease manifestation that quickly increases in scope or severity with a rate that varies. For instance, progression may be slow in one time period and rapid in another.\n", + " definition of HP:0003682 (Variable progression rate)\n", + " \n", + " \n", + " Accessory cranial suture\n", + " definition of HP:0012800 (Accessory cranial suture)\n", + " \n", + " \n", + " A cranial suture that is in addition to canonical membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant.\n", + " definition of HP:0012800 (Accessory cranial suture)\n", + " \n", + " \n", + " #Extra cranial suture #Supernumary cranial suture\n", + " definition of HP:0012800 (Accessory cranial suture)\n", + " \n", + " \n", + " Abnormality of cervical plexus\n", + " definition of HP:3000035 (Abnormality of cervical plexus)\n", + " \n", + " \n", + " Abnormality of the plexus of the ventral rami of the first four cervical spinal nerves which are located from C1 to C4 cervical segment in the neck.\n", + " definition of HP:3000035 (Abnormality of cervical plexus)\n", + " \n", + " \n", + " Malignant neoplasm of the central nervous system\n", + " definition of HP:0100836 (Malignant neoplasm of the central nervous system)\n", + " \n", + " \n", + " A tumor that originates in the pineal gland, has moderate cellularity and tends to form rosette patterns.\n", + " definition of HP:0100836 (Malignant neoplasm of the central nervous system)\n", + " \n", + " \n", + " #Malignant neoplasm of the CNS\n", + " definition of HP:0100836 (Malignant neoplasm of the central nervous system)\n", + " \n", + " \n", + " Gonadal dysgenesis, male\n", + " definition of HP:0008668 (Gonadal dysgenesis, male)\n", + " \n", + " \n", + " Unusual gonadal development in a person with a 46,XY male karyotype, leading to an unassigned sex differentiation.\n", + " definition of HP:0008668 (Gonadal dysgenesis, male)\n", + " \n", + " \n", + " #46,xy gonadal dysgenesis\n", + " definition of HP:0008668 (Gonadal dysgenesis, male)\n", + " \n", + " \n", + " Abnormal gallbladder physiology\n", + " definition of HP:0012438 (Abnormal gallbladder physiology)\n", + " \n", + " \n", + " A functional anomaly of the gallbladder.\n", + " definition of HP:0012438 (Abnormal gallbladder physiology)\n", + " \n", + " \n", + " Abnormal hematocrit\n", + " definition of HP:0031850 (Abnormal hematocrit)\n", + " \n", + " \n", + " Any deviation from the normal ratio of the volume of red blood cells to the total volume of blood.\n", + " definition of HP:0031850 (Abnormal hematocrit)\n", + " \n", + " \n", + " #Abnormal Hct\n", + " definition of HP:0031850 (Abnormal hematocrit)\n", + " \n", + " \n", + " Pilocytic astrocytoma\n", + " definition of HP:0033680 (Pilocytic astrocytoma)\n", + " \n", + " \n", + " The most common form of astrocytoma (WHO Grade I) in childhood. These typically have MAPK signaling pathway abnormalities.\n", + " definition of HP:0033680 (Pilocytic astrocytoma)\n", + " \n", + " \n", + " Rapid gastric emptying\n", + " definition of HP:6001017 (Rapid gastric emptying)\n", + " \n", + " \n", + " A condition in which food moves through the stomach into the small intestine at an abnormally fast rate.\n", + " definition of HP:6001017 (Rapid gastric emptying)\n", + " \n", + " \n", + " #Dumping syndrome\n", + " definition of HP:6001017 (Rapid gastric emptying)\n", + " \n", + " \n", + " Abnormal tragus morphology\n", + " definition of HP:0009912 (Abnormal tragus morphology)\n", + " \n", + " \n", + " An abnormality of the tragus.\n", + " definition of HP:0009912 (Abnormal tragus morphology)\n", + " \n", + " \n", + " #Abnormality of the tragus\n", + " definition of HP:0009912 (Abnormal tragus morphology)\n", + " \n", + " \n", + " Decreased light- and dark-adapted electroretinogram amplitude\n", + " definition of HP:0000654 (Decreased light- and dark-adapted electroretinogram amplitude)\n", + " \n", + " \n", + " Decreased amplitude of eletrical response upon electroretinography.\n", + " definition of HP:0000654 (Decreased light- and dark-adapted electroretinogram amplitude)\n", + " \n", + " \n", + " #Decreased amplitudes on flash visual electroretinogram #Decreased electroretinogram #Decreased electroretinogram amplitude #Decreased electroretinogram response #Decreased ERG amplitude #Flattened or absent electroretinogram #Reduced electroretinogram #Reduced ERG #Reduced or abolished electroretinogram\n", + " definition of HP:0000654 (Decreased light- and dark-adapted electroretinogram amplitude)\n", + " \n", + " \n", + " Severe Epstein Barr virus infection\n", + " definition of HP:0031693 (Severe Epstein Barr virus infection)\n", + " \n", + " \n", + " An unusually severe Epstein Barr virus (EBV) infection.\n", + " definition of HP:0031693 (Severe Epstein Barr virus infection)\n", + " \n", + " \n", + " #Fulminant infectious mononucleosis #Severe EBV infection\n", + " definition of HP:0031693 (Severe Epstein Barr virus infection)\n", + " \n", + " \n", + " Elevated urine tiglylglycine level\n", + " definition of HP:0034659 (Elevated urine tiglylglycine level)\n", + " \n", + " \n", + " Amount of tiglylglycine in the urine above upper limit of normal.\n", + " definition of HP:0034659 (Elevated urine tiglylglycine level)\n", + " \n", + " \n", + " Percussion-induced rapid rolling muscle contractions\n", + " definition of HP:0003760 (Percussion-induced rapid rolling muscle contractions)\n", + " \n", + " \n", + " Mechanical percussion (i.e., striking a muscle with a reflex hammer) leads to spreading waves of muscle contractions that begin proximally and spread laterally across the muscle.\n", + " definition of HP:0003760 (Percussion-induced rapid rolling muscle contractions)\n", + " \n", + " \n", + " Ameliorated by ethanol ingestion\n", + " definition of HP:0032503 (Ameliorated by ethanol ingestion)\n", + " \n", + " \n", + " Applies to a sign or symptom that is improved or made more bearable by drinking alcohol (ethanol).\n", + " definition of HP:0032503 (Ameliorated by ethanol ingestion)\n", + " \n", + " \n", + " #Ethanol reduces manifestations\n", + " definition of HP:0032503 (Ameliorated by ethanol ingestion)\n", + " \n", + " \n", + " Hyperreflexia\n", + " definition of HP:0001347 (Hyperreflexia)\n", + " \n", + " \n", + " Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.\n", + " definition of HP:0001347 (Hyperreflexia)\n", + " \n", + " \n", + " #Increased deep tendon reflexes #Increased reflexes\n", + " definition of HP:0001347 (Hyperreflexia)\n", + " \n", + " \n", + " Neurocytic rosette\n", + " definition of HP:0031930 (Neurocytic rosette)\n", + " \n", + " \n", + " A type of rosette that is similar to the Homer Wright rosette, but the central fiber-rich neuropil island is larger and more irregular.\n", + " definition of HP:0031930 (Neurocytic rosette)\n", + " \n", + " \n", + " #Pineocytomatous rosette\n", + " definition of HP:0031930 (Neurocytic rosette)\n", + " \n", + " \n", + " Profound sensorineural hearing impairment\n", + " definition of HP:0011476 (Profound sensorineural hearing impairment)\n", + " \n", + " \n", + " Complete loss of hearing related to a sensorineural defect.\n", + " definition of HP:0011476 (Profound sensorineural hearing impairment)\n", + " \n", + " \n", + " Acromelia of the upper limbs\n", + " definition of HP:0010482 (Acromelia of the upper limbs)\n", + " \n", + " \n", + " Shortening of the arms predominantly affecting terminal parts of the arm in relation to the upper and middle limb segments.\n", + " definition of HP:0010482 (Acromelia of the upper limbs)\n", + " \n", + " \n", + " Impaired ability to dress oneself\n", + " definition of HP:0031060 (Impaired ability to dress oneself)\n", + " \n", + " \n", + " This applies to an individual who needs help with dressing or needs to be completely dressed.\n", + " definition of HP:0031060 (Impaired ability to dress oneself)\n", + " \n", + " \n", + " Aplasia of the sweat glands\n", + " definition of HP:0011136 (Aplasia of the sweat glands)\n", + " \n", + " \n", + " Absence of the sweat glands.\n", + " definition of HP:0011136 (Aplasia of the sweat glands)\n", + " \n", + " \n", + " #Absent sweat glands #Lack of sweat glands\n", + " definition of HP:0011136 (Aplasia of the sweat glands)\n", + " \n", + " \n", + " Lateral humeral condyle aplasia\n", + " definition of HP:0006441 (Lateral humeral condyle aplasia)\n", + " \n", + " \n", + " Absent epiphysis of the distal phalanx of the 5th toe\n", + " definition of HP:0100202 (Absent epiphysis of the distal phalanx of the 5th toe)\n", + " \n", + " \n", + " #Absent end part of the outermost bone of the little toe #Absent end part of the outermost bone of the pinkie toe #Absent end part of the outermost bone of the pinky toe\n", + " definition of HP:0100202 (Absent epiphysis of the distal phalanx of the 5th toe)\n", + " \n", + " \n", + " Duodenal adenocarcinoma\n", + " definition of HP:0006771 (Duodenal adenocarcinoma)\n", + " \n", + " \n", + " A malignant epithelial tumor with a glandular organization that originates in the duodenum.\n", + " definition of HP:0006771 (Duodenal adenocarcinoma)\n", + " \n", + " \n", + " Neuronal loss in central nervous system\n", + " definition of HP:0002529 (Neuronal loss in central nervous system)\n", + " \n", + " \n", + " #Loss of brain cells #Neuronal loss #Neuronal loss in CNS\n", + " definition of HP:0002529 (Neuronal loss in central nervous system)\n", + " \n", + " \n", + " Cerebellopontine angle arachnoid cyst\n", + " definition of HP:0012487 (Cerebellopontine angle arachnoid cyst)\n", + " \n", + " \n", + " An arachnoid cyst located at the margin of the cerebellum and pons.\n", + " definition of HP:0012487 (Cerebellopontine angle arachnoid cyst)\n", + " \n", + " \n", + " Bullet-shaped middle phalanx of the 2nd finger\n", + " definition of HP:0009570 (Bullet-shaped middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 2nd finger is affected.\n", + " definition of HP:0009570 (Bullet-shaped middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Bullet-shaped middle bone of index finger\n", + " definition of HP:0009570 (Bullet-shaped middle phalanx of the 2nd finger)\n", + " \n", + " \n", + " Abnormal B cell subset distribution\n", + " definition of HP:0025539 (Abnormal B cell subset distribution)\n", + " \n", + " \n", + " Reduced circulating protein Z concentration\n", + " definition of HP:6000401 (Reduced circulating protein Z concentration)\n", + " \n", + " \n", + " The concentration of protein Z in the blood circulation is below the lower limit of normal.\n", + " definition of HP:6000401 (Reduced circulating protein Z concentration)\n", + " \n", + " \n", + " Non-motor seizure\n", + " definition of HP:0033259 (Non-motor seizure)\n", + " \n", + " \n", + " A seizure with clinical manifestation but without motor signs (other than possible behavior arrest) as its initial clinical manifestation. The electrographic onset may be generalized, focal, or unknown.\n", + " definition of HP:0033259 (Non-motor seizure)\n", + " \n", + " \n", + " Increased circulating IgG3 level\n", + " definition of HP:0032297 (Increased circulating IgG3 level)\n", + " \n", + " \n", + " An abnormally increased concentration of the IgG3 subtype in the blood circulation.\n", + " definition of HP:0032297 (Increased circulating IgG3 level)\n", + " \n", + " \n", + " Abnormality of vitamin C metabolism\n", + " definition of HP:0100509 (Abnormality of vitamin C metabolism)\n", + " \n", + " \n", + " #Abnormality of vitamin C metabolism\n", + " definition of HP:0100509 (Abnormality of vitamin C metabolism)\n", + " \n", + " \n", + " Abnormal enzyme activity in cultured fibroblasts\n", + " definition of HP:4000195 (Abnormal enzyme activity in cultured fibroblasts)\n", + " \n", + " \n", + " Concentration or activity of an enzyme is above or below the limits of normal in cultured fibroblasts. Fibroblasts are easy to grow in culture and are the main cell type involved in producing extracellular matrix. They are used as a convenient model system for measuring enzyme activity for enzymes that are not expressed in blood cells. Usually, the test is done in fibroblasts for convenience rather than for the investigation of a pathophysiology specific to fibroblasts.\n", + " definition of HP:4000195 (Abnormal enzyme activity in cultured fibroblasts)\n", + " \n", + " \n", + " Atelectasis\n", + " definition of HP:0100750 (Atelectasis)\n", + " \n", + " \n", + " Collapse of part of a lung associated with absence of inflation (air) of that part.\n", + " definition of HP:0100750 (Atelectasis)\n", + " \n", + " \n", + " #Partial or complete collapse of part or entire lung #Pulmonary atelectasis\n", + " definition of HP:0100750 (Atelectasis)\n", + " \n", + " \n", + " Increased hepatitis C virus antibody level\n", + " definition of HP:0410371 (Increased hepatitis C virus antibody level)\n", + " \n", + " \n", + " An abnormally increased level of immunoglobulin against hepatitis C virus in the blood.\n", + " definition of HP:0410371 (Increased hepatitis C virus antibody level)\n", + " \n", + " \n", + " Extremities cold to touch\n", + " definition of HP:6000500 (Extremities cold to touch)\n", + " \n", + " \n", + " Cool or cold arms or legs related to peripheral vasoconstriction, the narrowing of blood vessels resulting from the contraction of muscular walls in large arteries and the small arterioles of skin and most internal organs. Following exposure to low ambient temperatures, vasoconstriction decreases heat dissipation from skin surfaces, thus preventing life-threatening hypothermia.\n", + " definition of HP:6000500 (Extremities cold to touch)\n", + " \n", + " \n", + " #Peripheral vasoconstriction\n", + " definition of HP:6000500 (Extremities cold to touch)\n", + " \n", + " \n", + " Arterial calcification\n", + " definition of HP:0003207 (Arterial calcification)\n", + " \n", + " \n", + " Pathological deposition of calcium salts in one or more arteries.\n", + " definition of HP:0003207 (Arterial calcification)\n", + " \n", + " \n", + " Abnormal cementum morphology\n", + " definition of HP:0100717 (Abnormal cementum morphology)\n", + " \n", + " \n", + " Any structural anomaly of the cementum, which is the mineralized connective tissue covering the dental root. The cementum allows anchoring of the fibers of the periodontal ligament. Cementum is secreted by cementoblasts, which may be, later on, embedded in the cementum. Cementum can be acellular (along the two third coronal portion of the root) and cellular (in the apical and interradicular part of the root).\n", + " definition of HP:0100717 (Abnormal cementum morphology)\n", + " \n", + " \n", + " #Abnormality of the cementum\n", + " definition of HP:0100717 (Abnormal cementum morphology)\n", + " \n", + " \n", + " Pharyngeal mass\n", + " definition of HP:6000220 (Pharyngeal mass)\n", + " \n", + " \n", + " An abnormal enlargement or swelling localized to the pharynx (i.e., the throat, the space that connects the nose and mouth to the larynx and esophagus). The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.\n", + " definition of HP:6000220 (Pharyngeal mass)\n", + " \n", + " \n", + " Reduced progressive sperm motility\n", + " definition of HP:0034011 (Reduced progressive sperm motility)\n", + " \n", + " \n", + " A reduced proportion of sperm that move in a straight line or large circles; alternatively, an increased proportion of sperm that move in tight circles or in some other non-linear fashion.\n", + " definition of HP:0034011 (Reduced progressive sperm motility)\n", + " \n", + " \n", + " #Non-progressive sperm motility\n", + " definition of HP:0034011 (Reduced progressive sperm motility)\n", + " \n", + " \n", + " Cylindroma\n", + " definition of HP:0031024 (Cylindroma)\n", + " \n", + " \n", + " A benign skin adnexal tumor of eccrine differentiation.\n", + " definition of HP:0031024 (Cylindroma)\n", + " \n", + " \n", + " Abnormal celiac artery morphology\n", + " definition of HP:0012326 (Abnormal celiac artery morphology)\n", + " \n", + " \n", + " An anomaly of the celiac artery.\n", + " definition of HP:0012326 (Abnormal celiac artery morphology)\n", + " \n", + " \n", + " #Abnormal coeliac artery morphology #Abnormality of the celiac artery #Abnormality of the coeliac artery\n", + " definition of HP:0012326 (Abnormal celiac artery morphology)\n", + " \n", + " \n", + " Elevated urinary 3,4-Dihydroxybutyric acid level\n", + " definition of HP:6000608 (Elevated urinary 3,4-Dihydroxybutyric acid level)\n", + " \n", + " \n", + " The amount of 3,4-Dihydroxybutyric acid in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000608 (Elevated urinary 3,4-Dihydroxybutyric acid level)\n", + " \n", + " \n", + " Cone-shaped epiphyses of phalanges 2 to 5\n", + " definition of HP:0006035 (Cone-shaped epiphyses of phalanges 2 to 5)\n", + " \n", + " \n", + " #Cone-shaped end part of digital bones 2 to 5\n", + " definition of HP:0006035 (Cone-shaped epiphyses of phalanges 2 to 5)\n", + " \n", + " \n", + " Abnormal breath sound\n", + " definition of HP:0030829 (Abnormal breath sound)\n", + " \n", + " \n", + " An anomalous (adventitious) sound produced by the breathing process.\n", + " definition of HP:0030829 (Abnormal breath sound)\n", + " \n", + " \n", + " #Abnormal lung auscultation finding\n", + " definition of HP:0030829 (Abnormal breath sound)\n", + " \n", + " \n", + " Elevated CSF beta-alanine concentration\n", + " definition of HP:6000277 (Elevated CSF beta-alanine concentration)\n", + " \n", + " \n", + " The concentration of beta-alanine present in the cerebrospinal fluid (CSF) is above the upper limit of normal.\n", + " definition of HP:6000277 (Elevated CSF beta-alanine concentration)\n", + " \n", + " \n", + " Partial absence of cerebellar vermis\n", + " definition of HP:0002951 (Partial absence of cerebellar vermis)\n", + " \n", + " \n", + " Congenital absence of a part of the vermis of cerebellum.\n", + " definition of HP:0002951 (Partial absence of cerebellar vermis)\n", + " \n", + " \n", + " Keratoconjunctivitis\n", + " definition of HP:0001096 (Keratoconjunctivitis)\n", + " \n", + " \n", + " Inflammation of the cornea and conjunctiva.\n", + " definition of HP:0001096 (Keratoconjunctivitis)\n", + " \n", + " \n", + " Congenital agranulocytosis\n", + " definition of HP:0005541 (Congenital agranulocytosis)\n", + " \n", + " \n", + " Congenital onset of a marked decrease in the number of granulocytes.\n", + " definition of HP:0005541 (Congenital agranulocytosis)\n", + " \n", + " \n", + " Abnormal liver physiology\n", + " definition of HP:0031865 (Abnormal liver physiology)\n", + " \n", + " \n", + " Any functional anomaly of the liver.\n", + " definition of HP:0031865 (Abnormal liver physiology)\n", + " \n", + " \n", + " #Abnormal hepatic physiology\n", + " definition of HP:0031865 (Abnormal liver physiology)\n", + " \n", + " \n", + " Abnormal urinary color\n", + " definition of HP:0012086 (Abnormal urinary color)\n", + " \n", + " \n", + " An abnormal color of the urine, that is, the color of the urine appears different from the usual straw-yellow color.\n", + " definition of HP:0012086 (Abnormal urinary color)\n", + " \n", + " \n", + " #Abnormal urinary color #Abnormal urine color #Abnormal urine colour\n", + " definition of HP:0012086 (Abnormal urinary color)\n", + " \n", + " \n", + " Thunderclap headache\n", + " definition of HP:0030907 (Thunderclap headache)\n", + " \n", + " \n", + " Severe head pain with sudden onset, reaching its maximum intensity in less than one minute and lasting from one hour to ten days.\n", + " definition of HP:0030907 (Thunderclap headache)\n", + " \n", + " \n", + " Patchy sclerosis of hand bones\n", + " definition of HP:0004286 (Patchy sclerosis of hand bones)\n", + " \n", + " \n", + " #Uneven increase in bone density in hand bones\n", + " definition of HP:0004286 (Patchy sclerosis of hand bones)\n", + " \n", + " \n", + " Hypoplasia of the prostate\n", + " definition of HP:0008687 (Hypoplasia of the prostate)\n", + " \n", + " \n", + " #Hypoplastic prostate #Underdeveloped prostate\n", + " definition of HP:0008687 (Hypoplasia of the prostate)\n", + " \n", + " \n", + " Foveoschisis\n", + " definition of HP:0012152 (Foveoschisis)\n", + " \n", + " \n", + " Splitting of the retinal layers in the macula.\n", + " definition of HP:0012152 (Foveoschisis)\n", + " \n", + " \n", + " #Retinoschisis involving the fovea\n", + " definition of HP:0012152 (Foveoschisis)\n", + " \n", + " \n", + " Pancreatoblastoma\n", + " definition of HP:0100757 (Pancreatoblastoma)\n", + " \n", + " \n", + " A rare pediatric carcinoma of the pancreas.\n", + " definition of HP:0100757 (Pancreatoblastoma)\n", + " \n", + " \n", + " Small epiphyses of the 2nd toe\n", + " definition of HP:0100052 (Small epiphyses of the 2nd toe)\n", + " \n", + " \n", + " #Small end part of the 2nd toe bone\n", + " definition of HP:0100052 (Small epiphyses of the 2nd toe)\n", + " \n", + " \n", + " Impaired sensitivity to thyroid stimulating hormone\n", + " definition of HP:0011789 (Impaired sensitivity to thyroid stimulating hormone)\n", + " \n", + " \n", + " Reduced sensitivity of thyroid follicle cells to stimulation by biologically active thyroid-stimulating hormone (TSH).\n", + " definition of HP:0011789 (Impaired sensitivity to thyroid stimulating hormone)\n", + " \n", + " \n", + " #Thyroid-stimulating hormone receptor defect #TSHR defect\n", + " definition of HP:0011789 (Impaired sensitivity to thyroid stimulating hormone)\n", + " \n", + " \n", + " Labial adhesion\n", + " definition of HP:0033588 (Labial adhesion)\n", + " \n", + " \n", + " Synechia vulvae (adhesions of the labia minora) are characterized by a complete or partial fusion of the labia minora in the midline.\n", + " definition of HP:0033588 (Labial adhesion)\n", + " \n", + " \n", + " #Labial agglutination #Synechia vulvae\n", + " definition of HP:0033588 (Labial adhesion)\n", + " \n", + " \n", + " Central\n", + " definition of HP:0030645 (Central)\n", + " \n", + " \n", + " Applies to an abnormality that is located close to the median plane or midline of the body or of the referenced structure.\n", + " definition of HP:0030645 (Central)\n", + " \n", + " \n", + " Ultra-low vision with retained light perception\n", + " definition of HP:0032286 (Ultra-low vision with retained light perception)\n", + " \n", + " \n", + " Ultra-low vision but with retained ability to perceive the difference between light and dark.\n", + " definition of HP:0032286 (Ultra-low vision with retained light perception)\n", + " \n", + " \n", + " Thigh hypertrophy\n", + " definition of HP:0003733 (Thigh hypertrophy)\n", + " \n", + " \n", + " Muscle hypertrophy affecting the thighs.\n", + " definition of HP:0003733 (Thigh hypertrophy)\n", + " \n", + " \n", + " #Increased thigh size\n", + " definition of HP:0003733 (Thigh hypertrophy)\n", + " \n", + " \n", + " Giant neutrophil granules\n", + " definition of HP:0032499 (Giant neutrophil granules)\n", + " \n", + " \n", + " The presence of abnormally large granules in neutrophils. This finding can be appreciated on a peripheral blood smear. The finding is characteristic of Chediak Higashi syndrome. The giant granules are derived from azurophil granules, whereas peroxidase-negative granules are not involved in their formation.\n", + " definition of HP:0032499 (Giant neutrophil granules)\n", + " \n", + " \n", + " Mandibular osteolysis\n", + " definition of HP:0034046 (Mandibular osteolysis)\n", + " \n", + " \n", + " Osteolysis (destruction of bone through bone resorption with removal or loss of calcium) localized to the mandible.\n", + " definition of HP:0034046 (Mandibular osteolysis)\n", + " \n", + " \n", + " Postauricular skin tag\n", + " definition of HP:0004451 (Postauricular skin tag)\n", + " \n", + " \n", + " A rudimentary tag of ear tissue often containing a core of cartilage and located just in back of the auricle (outer part of the ear).\n", + " definition of HP:0004451 (Postauricular skin tag)\n", + " \n", + " \n", + " #Postauricular acrochordon #Postauricular fibroepithelial polyp #Skin tag behind the ear\n", + " definition of HP:0004451 (Postauricular skin tag)\n", + " \n", + " \n", + " Paucity of peroxisomes\n", + " definition of HP:0034554 (Paucity of peroxisomes)\n", + " \n", + " \n", + " Reduced number of observable peroxisomes per cell. This feature can be observed by immunohistochemical staining of cultured cells (such as fibroblasts) or by electronmicroscopy.\n", + " definition of HP:0034554 (Paucity of peroxisomes)\n", + " \n", + " \n", + " Positive skin infectious agent test\n", + " definition of HP:0430117 (Positive skin infectious agent test)\n", + " \n", + " \n", + " Any kind of test for an infectious agent in skin positive.\n", + " definition of HP:0430117 (Positive skin infectious agent test)\n", + " \n", + " \n", + " Abnormal heart sound\n", + " definition of HP:0031657 (Abnormal heart sound)\n", + " \n", + " \n", + " Any abnormal noise generated by the beating heart.\n", + " definition of HP:0031657 (Abnormal heart sound)\n", + " \n", + " \n", + " Thought echo\n", + " definition of HP:0025778 (Thought echo)\n", + " \n", + " \n", + " The personal experience that thoughts are echoing around them and that they are hearing their own thoughts as they are experiencing them internally.\n", + " definition of HP:0025778 (Thought echo)\n", + " \n", + " \n", + " #Echo de pensee #Gedankenlautverden\n", + " definition of HP:0025778 (Thought echo)\n", + " \n", + " \n", + " Abnormal renal arteriole endothelium morphology\n", + " definition of HP:0033895 (Abnormal renal arteriole endothelium morphology)\n", + " \n", + " \n", + " Any structural anomaly of the lining (endothelium) of the arterioles of the kidney.\n", + " definition of HP:0033895 (Abnormal renal arteriole endothelium morphology)\n", + " \n", + " \n", + " AV nodal tachycardia\n", + " definition of HP:0011687 (AV nodal tachycardia)\n", + " \n", + " \n", + " A type of supraventricular tachycardia that originates in the atrioventricular node.\n", + " definition of HP:0011687 (AV nodal tachycardia)\n", + " \n", + " \n", + " #Atrioventricular nodal tachycardia #AV nodal tachycardia\n", + " definition of HP:0011687 (AV nodal tachycardia)\n", + " \n", + " \n", + " Paget disease of bone\n", + " definition of HP:0034159 (Paget disease of bone)\n", + " \n", + " \n", + " A localized disorder of bone remodeling. Increased numbers of larger than normal osteoclasts initiate the process at affected skeletal sites, and the increase in bone resorption is followed by an increase in new bone formation, altering bone architecture.\n", + " definition of HP:0034159 (Paget disease of bone)\n", + " \n", + " \n", + " Ameliorated by ultraviolet light exposure\n", + " definition of HP:0034440 (Ameliorated by ultraviolet light exposure)\n", + " \n", + " \n", + " Applies to a skin lesion that is improved or made more bearable by exposure to ultraviolet light (sunshine or phototherapy).\n", + " definition of HP:0034440 (Ameliorated by ultraviolet light exposure)\n", + " \n", + " \n", + " #Ultraviolet exposure improves condition\n", + " definition of HP:0034440 (Ameliorated by ultraviolet light exposure)\n", + " \n", + " \n", + " Persistent EBV viremia\n", + " definition of HP:0020072 (Persistent EBV viremia)\n", + " \n", + " \n", + " Persistent presence of Epstein-Barr virus in the blood.\n", + " definition of HP:0020072 (Persistent EBV viremia)\n", + " \n", + " \n", + " Decreased alveolar volume\n", + " definition of HP:0033633 (Decreased alveolar volume)\n", + " \n", + " \n", + " An abnormal reduction in alveolar volume.\n", + " definition of HP:0033633 (Decreased alveolar volume)\n", + " \n", + " \n", + " Precipitous labor\n", + " definition of HP:6000103 (Precipitous labor)\n", + " \n", + " \n", + " Precipitous labor is extremely rapid labor and delivery, usually defined as expulsion of the fetus within less than 3 hours of commencement of regular contractions.\n", + " definition of HP:6000103 (Precipitous labor)\n", + " \n", + " \n", + " #Precipitous delivery\n", + " definition of HP:6000103 (Precipitous labor)\n", + " \n", + " \n", + " Curved distal phalanx of the 5th finger\n", + " definition of HP:0004226 (Curved distal phalanx of the 5th finger)\n", + " \n", + " \n", + " Curved appearance of the distal phalanx of the 5th (little) finger.\n", + " definition of HP:0004226 (Curved distal phalanx of the 5th finger)\n", + " \n", + " \n", + " #Curved outermost little finger bone #Curved outermost pinkie finger bone #Curved outermost pinky finger bone #Curved terminal phalanx of the little finger\n", + " definition of HP:0004226 (Curved distal phalanx of the 5th finger)\n", + " \n", + " \n", + " Moyamoya phenomenon\n", + " definition of HP:0011834 (Moyamoya phenomenon)\n", + " \n", + " \n", + " A noninflammatory, progressive occlusion of the intracranial carotid arteries owing to the formation of netlike collateral arteries arising from the circle of Willis.\n", + " definition of HP:0011834 (Moyamoya phenomenon)\n", + " \n", + " \n", + " Extra-abdominal umbilical vein varix\n", + " definition of HP:0025689 (Extra-abdominal umbilical vein varix)\n", + " \n", + " \n", + " Focal dilatation of the extra-abdominal portion of the umbilical vein. An extra-abdominal umbilical varix is difficult to diagnose prenatally as it can appear like a cyst on ultrasound prior to birth.\n", + " definition of HP:0025689 (Extra-abdominal umbilical vein varix)\n", + " \n", + " \n", + " Cerebrospinal fluid erythrocytes\n", + " definition of HP:6000202 (Cerebrospinal fluid erythrocytes)\n", + " \n", + " \n", + " The presence of red blood cells (RBCs) in the cerebrospinal fluid (CSF). The CSF normally does not contain RBCs (erythrocytes).\n", + " definition of HP:6000202 (Cerebrospinal fluid erythrocytes)\n", + " \n", + " \n", + " Sensory ataxia\n", + " definition of HP:0010871 (Sensory ataxia)\n", + " \n", + " \n", + " Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms.\n", + " definition of HP:0010871 (Sensory ataxia)\n", + " \n", + " \n", + " #Afferent ataxia #Ataxia, sensory #Spinal ataxia\n", + " definition of HP:0010871 (Sensory ataxia)\n", + " \n", + " \n", + " Defective B cell differentiation\n", + " definition of HP:0005357 (Defective B cell differentiation)\n", + " \n", + " \n", + " Reduced functionality of the process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity.\n", + " definition of HP:0005357 (Defective B cell differentiation)\n", + " \n", + " \n", + " Almond-shaped palpebral fissure\n", + " definition of HP:0007874 (Almond-shaped palpebral fissure)\n", + " \n", + " \n", + " A shape created by an acute downward arching of the upper eyelid and upward arching of the lower eyelid, toward the medial canthus, which gives the outline of the palpebral fissures the configuration of an almond. Thus, the maximum distance between the fissures is offset from, and medial to, the center point.\n", + " definition of HP:0007874 (Almond-shaped palpebral fissure)\n", + " \n", + " \n", + " #Almond shaped eyes #Almond-shaped opening between the eyelids\n", + " definition of HP:0007874 (Almond-shaped palpebral fissure)\n", + " \n", + " \n", + " Tortuosity of conjunctival vessels\n", + " definition of HP:0000503 (Tortuosity of conjunctival vessels)\n", + " \n", + " \n", + " The presence of an increased number of twists and turns of the conjunctival blood vessels.\n", + " definition of HP:0000503 (Tortuosity of conjunctival vessels)\n", + " \n", + " \n", + " Gingival cleft\n", + " definition of HP:0030690 (Gingival cleft)\n", + " \n", + " \n", + " A fissure in the gingiva (gums), i.e., the mucosal tissue that lies over the mandible and maxilla.\n", + " definition of HP:0030690 (Gingival cleft)\n", + " \n", + " \n", + " Stippling of the epiphysis of the distal phalanx of the hallux\n", + " definition of HP:0010147 (Stippling of the epiphysis of the distal phalanx of the hallux)\n", + " \n", + " \n", + " The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the distal phalanx of the hallux.\n", + " definition of HP:0010147 (Stippling of the epiphysis of the distal phalanx of the hallux)\n", + " \n", + " \n", + " #Speckled calcifications in the end part of the outermost bone of the big toe\n", + " definition of HP:0010147 (Stippling of the epiphysis of the distal phalanx of the hallux)\n", + " \n", + " \n", + " Abnormal vena cava physiology\n", + " definition of HP:0030970 (Abnormal vena cava physiology)\n", + " \n", + " \n", + " An abnormality of the function of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava.\n", + " definition of HP:0030970 (Abnormal vena cava physiology)\n", + " \n", + " \n", + " Flared upper limb metaphysis\n", + " definition of HP:0003849 (Flared upper limb metaphysis)\n", + " \n", + " \n", + " The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones of the arm.\n", + " definition of HP:0003849 (Flared upper limb metaphysis)\n", + " \n", + " \n", + " #Flared metaphyses of the upper limbs #Flared wide portion of the upper limb bone\n", + " definition of HP:0003849 (Flared upper limb metaphysis)\n", + " \n", + " \n", + " Abnormal neck physiology\n", + " definition of HP:0025669 (Abnormal neck physiology)\n", + " \n", + " \n", + " Any functional anomaly of the neck region.\n", + " definition of HP:0025669 (Abnormal neck physiology)\n", + " \n", + " \n", + " Quelprud nodule\n", + " definition of HP:0030023 (Quelprud nodule)\n", + " \n", + " \n", + " Small cartilaginous prominence on the posterior concha.\n", + " definition of HP:0030023 (Quelprud nodule)\n", + " \n", + " \n", + " Semilunar tooth\n", + " definition of HP:0033782 (Semilunar tooth)\n", + " \n", + " \n", + " An incisor with a half-moon shape incisal edge.\n", + " definition of HP:0033782 (Semilunar tooth)\n", + " \n", + " \n", + " #Crescent-shape tooth #Hutchinson incisor #Semicircular tooth #Tooth, semilunar\n", + " definition of HP:0033782 (Semilunar tooth)\n", + " \n", + " \n", + " Elevated circulating glycylproline concentration\n", + " definition of HP:6000271 (Elevated circulating glycylproline concentration)\n", + " \n", + " \n", + " Concentration in the bloodstream of glycylproline above the upper limit of normal. Glycylproline is a dipeptide composed of glycine and proline, and is an end product of collagen metabolism that is further cleaved by prolidase (EC 3.4.13.9).\n", + " definition of HP:6000271 (Elevated circulating glycylproline concentration)\n", + " \n", + " \n", + " Poikiloderma\n", + " definition of HP:0001029 (Poikiloderma)\n", + " \n", + " \n", + " Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias.\n", + " definition of HP:0001029 (Poikiloderma)\n", + " \n", + " \n", + " Bone marrow hemophagocytosis\n", + " definition of HP:6000980 (Bone marrow hemophagocytosis)\n", + " \n", + " \n", + " Phagocytosis of erythrocytes, lymphocytes or other hematopoietic precursors by histiocytes or macrophages observed in the bone marrow.\n", + " definition of HP:6000980 (Bone marrow hemophagocytosis)\n", + " \n", + " \n", + " Abnormal urinary purine level\n", + " definition of HP:0033161 (Abnormal urinary purine level)\n", + " \n", + " \n", + " Any deviation from the normal amount of a purine compound in the urine. Purines are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring. Two of the four deoxyribonucleotides (deoxyadenosine and deoxyguanosine) and two of the four ribonucleotides (adenosine, or AMP, and guanosine, or GMP) are purines.\n", + " definition of HP:0033161 (Abnormal urinary purine level)\n", + " \n", + " \n", + " Abnormal bleeding\n", + " definition of HP:0001892 (Abnormal bleeding)\n", + " \n", + " \n", + " An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.\n", + " definition of HP:0001892 (Abnormal bleeding)\n", + " \n", + " \n", + " #Bleeding diathesis #Bleeding tendency #Hemorrhagic diathesis\n", + " definition of HP:0001892 (Abnormal bleeding)\n", + " \n", + " \n", + " Decreased fetal movement\n", + " definition of HP:0001558 (Decreased fetal movement)\n", + " \n", + " \n", + " An abnormal reduction in quantity or strength of fetal movements.\n", + " definition of HP:0001558 (Decreased fetal movement)\n", + " \n", + " \n", + " #Decreased fetal activity #Decreased fetal movements #Decreased foetal activity #Decreased foetal movement #Decreased foetal movements #Decreased movement in utero #Dminished fetal movement #Dminished foetal movement #Fetal hypokinesia #Foetal hypokinesia #Less than 10 fetal movements in 12 hours #Less than 10 foetal movements in 12 hours #Reduced fetal movement #Reduced fetal movements #Reduced foetal movement #Reduced foetal movements\n", + " definition of HP:0001558 (Decreased fetal movement)\n", + " \n", + " \n", + " Abnormal respiratory epithelium morphology\n", + " definition of HP:0012253 (Abnormal respiratory epithelium morphology)\n", + " \n", + " \n", + " Any structural anomaly of the pseudostratified ciliated epithelium that lines much of the conducting portion of the airway, including part of the nasal cavity and larynx, the trachea, and bronchi.\n", + " definition of HP:0012253 (Abnormal respiratory epithelium morphology)\n", + " \n", + " \n", + " Pulmonary opacity\n", + " definition of HP:0031457 (Pulmonary opacity)\n", + " \n", + " \n", + " Opacity refers to any area that preferentially attenuates the x-ray beam and therefore appears more opaque than the surrounding area. It is a nonspecific term that does not indicate the size or pathologic nature of the abnormality.\n", + " definition of HP:0031457 (Pulmonary opacity)\n", + " \n", + " \n", + " Left atrial enlargement\n", + " definition of HP:0031295 (Left atrial enlargement)\n", + " \n", + " \n", + " Increase in size of the left atrium.\n", + " definition of HP:0031295 (Left atrial enlargement)\n", + " \n", + " \n", + " #Enlarged heart left atrium\n", + " definition of HP:0031295 (Left atrial enlargement)\n", + " \n", + " \n", + " Mesangial immunotactoid deposits\n", + " definition of HP:0033547 (Mesangial immunotactoid deposits)\n", + " \n", + " \n", + " Extracellular mesangial aggregates composed of non-branching fibrils, focally parallel over 30 nM in diameter. The term immunotactoid refers to highly organized immune depositions appearing as rod-like microtubular structures in ultrastructural examination.\n", + " definition of HP:0033547 (Mesangial immunotactoid deposits)\n", + " \n", + " \n", + " Decreased carpal angles of wrist\n", + " definition of HP:0004049 (Decreased carpal angles of wrist)\n", + " \n", + " \n", + " Hypothalamic gliosis\n", + " definition of HP:0025037 (Hypothalamic gliosis)\n", + " \n", + " \n", + " Focal proliferation of glial cells in the hypothalamus.\n", + " definition of HP:0025037 (Hypothalamic gliosis)\n", + " \n", + " \n", + " Hypoplasia of right ventricle\n", + " definition of HP:0004762 (Hypoplasia of right ventricle)\n", + " \n", + " \n", + " Underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells.\n", + " definition of HP:0004762 (Hypoplasia of right ventricle)\n", + " \n", + " \n", + " #Heart right ventricle hypoplasia #Small right heart chamber #Underdeveloped right heart chamber\n", + " definition of HP:0004762 (Hypoplasia of right ventricle)\n", + " \n", + " \n", + " Diminished movement\n", + " definition of HP:0002374 (Diminished movement)\n", + " \n", + " \n", + " #Diminished movement\n", + " definition of HP:0002374 (Diminished movement)\n", + " \n", + " \n", + " Oligogenic inheritance\n", + " definition of HP:0010983 (Oligogenic inheritance)\n", + " \n", + " \n", + " A type of multifactorial inheritance governed by the simultaneous action of a few gene loci. It is recommended this term be used for traits governed by three loci, although it is noted that usage of this term in the literature is not uniform.\n", + " definition of HP:0010983 (Oligogenic inheritance)\n", + " \n", + " \n", + " No social interaction\n", + " definition of HP:0008763 (No social interaction)\n", + " \n", + " \n", + " Lack of intentional participation in interactions with another person.\n", + " definition of HP:0008763 (No social interaction)\n", + " \n", + " \n", + " #No social interaction\n", + " definition of HP:0008763 (No social interaction)\n", + " \n", + " \n", + " Spontaneous pain sensation\n", + " definition of HP:0010833 (Spontaneous pain sensation)\n", + " \n", + " \n", + " Spontaneous pain is a kind of neuropathic pain which occurs without an identifiable trigger.\n", + " definition of HP:0010833 (Spontaneous pain sensation)\n", + " \n", + " \n", + " Deposits immunoreactive to beta-amyloid protein\n", + " definition of HP:0003791 (Deposits immunoreactive to beta-amyloid protein)\n", + " \n", + " \n", + " Ureteral polyp\n", + " definition of HP:0025635 (Ureteral polyp)\n", + " \n", + " \n", + " A growth protruding from the mucous membrane of the ureter. Ureteral polyps can be attached to the ureter by a broad base or a thin stalk.\n", + " definition of HP:0025635 (Ureteral polyp)\n", + " \n", + " \n", + " #Polyp of the ureter #Ureter polyp\n", + " definition of HP:0025635 (Ureteral polyp)\n", + " \n", + " \n", + " 10 pairs of ribs\n", + " definition of HP:0030300 (10 pairs of ribs)\n", + " \n", + " \n", + " Presence of only 10 (instead of the usual 12) pairs of ribs.\n", + " definition of HP:0030300 (10 pairs of ribs)\n", + " \n", + " \n", + " #10 pairs of ribs\n", + " definition of HP:0030300 (10 pairs of ribs)\n", + " \n", + " \n", + " Hypoplastic helices\n", + " definition of HP:0008589 (Hypoplastic helices)\n", + " \n", + " \n", + " Underdevelopment of the helix, i.e., of the outer rim of the pinna.\n", + " definition of HP:0008589 (Hypoplastic helices)\n", + " \n", + " \n", + " #Underdeveloped helices\n", + " definition of HP:0008589 (Hypoplastic helices)\n", + " \n", + " \n", + " Optic disc coloboma\n", + " definition of HP:0000588 (Optic disc coloboma)\n", + " \n", + " \n", + " A cleft of the optic nerve that extends inferiorly.\n", + " definition of HP:0000588 (Optic disc coloboma)\n", + " \n", + " \n", + " #Coloboma of optic nerve #Optic disc coloboma #Optic nerve coloboma\n", + " definition of HP:0000588 (Optic disc coloboma)\n", + " \n", + " \n", + " Autoscopy\n", + " definition of HP:5200210 (Autoscopy)\n", + " \n", + " \n", + " A phenomenon in which an individual perceives themselves from an external perspective, as if they are observing their own body or self from a location outside of their physical body.\n", + " definition of HP:5200210 (Autoscopy)\n", + " \n", + " \n", + " Renal duplication\n", + " definition of HP:0000075 (Renal duplication)\n", + " \n", + " \n", + " A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters.\n", + " definition of HP:0000075 (Renal duplication)\n", + " \n", + " \n", + " #Extra kidney\n", + " definition of HP:0000075 (Renal duplication)\n", + " \n", + " \n", + " Failure of phenylephrine to induce blanching of eye redness\n", + " definition of HP:0034983 (Failure of phenylephrine to induce blanching of eye redness)\n", + " \n", + " \n", + " Instillation of 2.5% phenylephrine drops into the eye does not induce blanching of eye redness. Failure to blanch suggests redness caused by scleral vessel engorgement (e.g., scleritis) or extravascular cause (e.g., hemorrhage), not episcleritis or conjunctivitis.\n", + " definition of HP:0034983 (Failure of phenylephrine to induce blanching of eye redness)\n", + " \n", + " \n", + " #Phenylephrine does not induce blanching of eye redness\n", + " definition of HP:0034983 (Failure of phenylephrine to induce blanching of eye redness)\n", + " \n", + " \n", + " Dens in dente\n", + " definition of HP:0011088 (Dens in dente)\n", + " \n", + " \n", + " An abnormality of the incisor characterized by invagination of the enamel, giving a radiographic appearance that suggests a tooth within a tooth.\n", + " definition of HP:0011088 (Dens in dente)\n", + " \n", + " \n", + " #Dens invaginatus #Tooth within a tooth\n", + " definition of HP:0011088 (Dens in dente)\n", + " \n", + " \n", + " Thin long bone diaphyses\n", + " definition of HP:0006470 (Thin long bone diaphyses)\n", + " \n", + " \n", + " Decreased width of the diaphysis of long bones.\n", + " definition of HP:0006470 (Thin long bone diaphyses)\n", + " \n", + " \n", + " #Thin diaphyses of long bones #Thin shaft of long bone\n", + " definition of HP:0006470 (Thin long bone diaphyses)\n", + " \n", + " \n", + " Fractured acetabular part of hip bone\n", + " definition of HP:0041145 (Fractured acetabular part of hip bone)\n", + " \n", + " \n", + " A partial or complete breakage of the acetabular part of hip bone.\n", + " definition of HP:0041145 (Fractured acetabular part of hip bone)\n", + " \n", + " \n", + " #bone acetabular part of hip bone\n", + " definition of HP:0041145 (Fractured acetabular part of hip bone)\n", + " \n", + " \n", + " Abnormal proportion of marginal zone B cells\n", + " definition of HP:0030383 (Abnormal proportion of marginal zone B cells)\n", + " \n", + " \n", + " A deviation of the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells.\n", + " definition of HP:0030383 (Abnormal proportion of marginal zone B cells)\n", + " \n", + " \n", + " Skin dimple over apex of long bone angulation\n", + " definition of HP:0001024 (Skin dimple over apex of long bone angulation)\n", + " \n", + " \n", + " Irregular capital femoral epiphysis\n", + " definition of HP:0005041 (Irregular capital femoral epiphysis)\n", + " \n", + " \n", + " Irregular surface of the normally relatively smooth capital femoral epiphysis.\n", + " definition of HP:0005041 (Irregular capital femoral epiphysis)\n", + " \n", + " \n", + " #Irregular end part of innermost thighbone #Irregular proximal femoral epiphyses\n", + " definition of HP:0005041 (Irregular capital femoral epiphysis)\n", + " \n", + " \n", + " Enamel hypomineralization\n", + " definition of HP:0006285 (Enamel hypomineralization)\n", + " \n", + " \n", + " A decreased amount of enamel mineralization. Hypomineralized enamel has a brown discoloration and brittle aspect.\n", + " definition of HP:0006285 (Enamel hypomineralization)\n", + " \n", + " \n", + " #Decreased enamel mineralisation #Hypomineralization of enamel #Mottled tooth enamel #Poorly mineralized tooth enamel\n", + " definition of HP:0006285 (Enamel hypomineralization)\n", + " \n", + " \n", + " Enlarged semicircular canal\n", + " definition of HP:0011383 (Enlarged semicircular canal)\n", + " \n", + " \n", + " Increased size of the semicircular canal.\n", + " definition of HP:0011383 (Enlarged semicircular canal)\n", + " \n", + " \n", + " #Dilated semicircular canal\n", + " definition of HP:0011383 (Enlarged semicircular canal)\n", + " \n", + " \n", + " Hypoplasia of the ciliary body\n", + " definition of HP:0007774 (Hypoplasia of the ciliary body)\n", + " \n", + " \n", + " Underdevelopment of the ciliary body.\n", + " definition of HP:0007774 (Hypoplasia of the ciliary body)\n", + " \n", + " \n", + " History of recent animal bite\n", + " definition of HP:0020138 (History of recent animal bite)\n", + " \n", + " \n", + " Medical history of a recent bite injury due to an animal.\n", + " definition of HP:0020138 (History of recent animal bite)\n", + " \n", + " \n", + " Elevated urine 3-hydroxysebacic acid level\n", + " definition of HP:6001001 (Elevated urine 3-hydroxysebacic acid level)\n", + " \n", + " \n", + " The amount of 3-hydroxysebacic acid in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6001001 (Elevated urine 3-hydroxysebacic acid level)\n", + " \n", + " \n", + " Elevated urinary prostaglandin E2 metabolite level\n", + " definition of HP:0034050 (Elevated urinary prostaglandin E2 metabolite level)\n", + " \n", + " \n", + " An increased amount of prostaglandin E2 metabolite (PGE-M) in the urine.\n", + " definition of HP:0034050 (Elevated urinary prostaglandin E2 metabolite level)\n", + " \n", + " \n", + " Redundant skin on fingers\n", + " definition of HP:0007516 (Redundant skin on fingers)\n", + " \n", + " \n", + " Loose and sagging skin of the fingers.\n", + " definition of HP:0007516 (Redundant skin on fingers)\n", + " \n", + " \n", + " #Extra skin on fingers\n", + " definition of HP:0007516 (Redundant skin on fingers)\n", + " \n", + " \n", + " Abnormality of the epiphysis of the middle phalanx of the 3rd toe\n", + " definition of HP:0100092 (Abnormality of the epiphysis of the middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Abnormality of the end part of the middle bone of the 3rd toe\n", + " definition of HP:0100092 (Abnormality of the epiphysis of the middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " Epigastric pain\n", + " definition of HP:0410019 (Epigastric pain)\n", + " \n", + " \n", + " Pain that is localized to the region of the upper abdomen immediately below the ribs.\n", + " definition of HP:0410019 (Epigastric pain)\n", + " \n", + " \n", + " #Epigastrium pain\n", + " definition of HP:0410019 (Epigastric pain)\n", + " \n", + " \n", + " Abnormal esophagus morphology\n", + " definition of HP:0002031 (Abnormal esophagus morphology)\n", + " \n", + " \n", + " A structural abnormality of the esophagus.\n", + " definition of HP:0002031 (Abnormal esophagus morphology)\n", + " \n", + " \n", + " #Abnormal oesophagus morphology #Abnormality of esophagus structure #Abnormality of oesophagus structure #Anomaly of the esophagus #Anomaly of the oesophagus\n", + " definition of HP:0002031 (Abnormal esophagus morphology)\n", + " \n", + " \n", + " Situs inversus totalis\n", + " definition of HP:0001696 (Situs inversus totalis)\n", + " \n", + " \n", + " A left-right reversal (or mirror reflection) of the anatomical location of the major thoracic and abdominal organs.\n", + " definition of HP:0001696 (Situs inversus totalis)\n", + " \n", + " \n", + " #All organs on wrong side of body #situs oppositus #situs transversus\n", + " definition of HP:0001696 (Situs inversus totalis)\n", + " \n", + " \n", + " Low APGAR score\n", + " definition of HP:0030917 (Low APGAR score)\n", + " \n", + " \n", + " Thick eyebrow\n", + " definition of HP:0000574 (Thick eyebrow)\n", + " \n", + " \n", + " Increased density/number and/or increased diameter of eyebrow hairs.\n", + " definition of HP:0000574 (Thick eyebrow)\n", + " \n", + " \n", + " #Bushy eyebrows #Dense eyebrow #Heavy eyebrows #Hypertrichosis of the eyebrow #Prominent eyebrows #Thick eyebrow #Thick eyebrows\n", + " definition of HP:0000574 (Thick eyebrow)\n", + " \n", + " \n", + " Temporomandibular arthritis\n", + " definition of HP:0040312 (Temporomandibular arthritis)\n", + " \n", + " \n", + " #Arthritis of temporomandibular joint\n", + " definition of HP:0040312 (Temporomandibular arthritis)\n", + " \n", + " \n", + " Abnormality of the epiphyses of the 2nd finger\n", + " definition of HP:0006263 (Abnormality of the epiphyses of the 2nd finger)\n", + " \n", + " \n", + " Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 2nd finger.\n", + " definition of HP:0006263 (Abnormality of the epiphyses of the 2nd finger)\n", + " \n", + " \n", + " #Abnormality of the end part of the index finger bone\n", + " definition of HP:0006263 (Abnormality of the epiphyses of the 2nd finger)\n", + " \n", + " \n", + " Anti-proteinase 3 antibody positivity\n", + " definition of HP:0033557 (Anti-proteinase 3 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies in the blood circulation that react against proteinase 3. Proteinase 3 (PR3) antigen is a 29-kD serine protease that exists as a protein triplet in human neutrophils\n", + " definition of HP:0033557 (Anti-proteinase 3 antibody positivity)\n", + " \n", + " \n", + " #Anti-PR3 antibody positivity\n", + " definition of HP:0033557 (Anti-proteinase 3 antibody positivity)\n", + " \n", + " \n", + " Rhombencephalosynapsis\n", + " definition of HP:0031913 (Rhombencephalosynapsis)\n", + " \n", + " \n", + " Rhombencephalosynapsis is a rare brain malformation defined by midline fusion of the cerebellar hemispheres with partial or complete loss of the intervening vermis.\n", + " definition of HP:0031913 (Rhombencephalosynapsis)\n", + " \n", + " \n", + " Jumping\n", + " definition of HP:5200134 (Jumping)\n", + " \n", + " \n", + " An excessive frequency of jumping in place.\n", + " definition of HP:5200134 (Jumping)\n", + " \n", + " \n", + " #Bouncing #Hopping #Pogo-ing\n", + " definition of HP:5200134 (Jumping)\n", + " \n", + " \n", + " Abnormal ilium morphology\n", + " definition of HP:0002867 (Abnormal ilium morphology)\n", + " \n", + " \n", + " An abnormality of the ilium, the largest and uppermost bone of the pelvis.\n", + " definition of HP:0002867 (Abnormal ilium morphology)\n", + " \n", + " \n", + " #Abnormality of the ilium #Iliac abnormalities\n", + " definition of HP:0002867 (Abnormal ilium morphology)\n", + " \n", + " \n", + " Maternal first trimester fever\n", + " definition of HP:0030246 (Maternal first trimester fever)\n", + " \n", + " \n", + " The occurrence of fever in a mother during the first trimester of pregnancy.\n", + " definition of HP:0030246 (Maternal first trimester fever)\n", + " \n", + " \n", + " Nonossified fifth metatarsal\n", + " definition of HP:0008087 (Nonossified fifth metatarsal)\n", + " \n", + " \n", + " The presence of a fifth metatarsal bone that has not undergone ossification at an age when ossification is usually visible.\n", + " definition of HP:0008087 (Nonossified fifth metatarsal)\n", + " \n", + " \n", + " Progressive peripheral neuropathy\n", + " definition of HP:0007133 (Progressive peripheral neuropathy)\n", + " \n", + " \n", + " #Progressive polyneuropathy\n", + " definition of HP:0007133 (Progressive peripheral neuropathy)\n", + " \n", + " \n", + " Erythema nodosum\n", + " definition of HP:0012219 (Erythema nodosum)\n", + " \n", + " \n", + " An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral.\n", + " definition of HP:0012219 (Erythema nodosum)\n", + " \n", + " \n", + " Neonatal unilateral epileptic spasm\n", + " definition of HP:0032838 (Neonatal unilateral epileptic spasm)\n", + " \n", + " \n", + " Neonatal unilateral epileptic spasm is a sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that occurs at one side of the body.\n", + " definition of HP:0032838 (Neonatal unilateral epileptic spasm)\n", + " \n", + " \n", + " Abnormal lens morphology\n", + " definition of HP:0000517 (Abnormal lens morphology)\n", + " \n", + " \n", + " An abnormality of the lens.\n", + " definition of HP:0000517 (Abnormal lens morphology)\n", + " \n", + " \n", + " #Abnormality of the lens #Lens issue\n", + " definition of HP:0000517 (Abnormal lens morphology)\n", + " \n", + " \n", + " Fractured hand bones\n", + " definition of HP:0004277 (Fractured hand bones)\n", + " \n", + " \n", + " #Broken hand bones #Fractured hand bones\n", + " definition of HP:0004277 (Fractured hand bones)\n", + " \n", + " \n", + " Abnormality of the middle phalanx of the 2nd toe\n", + " definition of HP:0010357 (Abnormality of the middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Abnormality of the middle bone of the 2nd toe\n", + " definition of HP:0010357 (Abnormality of the middle phalanx of the 2nd toe)\n", + " \n", + " \n", + " Anti-complement component C1q antibody positivity\n", + " definition of HP:0034077 (Anti-complement component C1q antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against C1q.\n", + " definition of HP:0034077 (Anti-complement component C1q antibody positivity)\n", + " \n", + " \n", + " #Anti-C1q antibody positivity\n", + " definition of HP:0034077 (Anti-complement component C1q antibody positivity)\n", + " \n", + " \n", + " Irregular articular surfaces of the elbow joints\n", + " definition of HP:0003945 (Irregular articular surfaces of the elbow joints)\n", + " \n", + " \n", + " Skin ulcer\n", + " definition of HP:0200042 (Skin ulcer)\n", + " \n", + " \n", + " A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.\n", + " definition of HP:0200042 (Skin ulcer)\n", + " \n", + " \n", + " #Open skin sore\n", + " definition of HP:0200042 (Skin ulcer)\n", + " \n", + " \n", + " Acute aspiration pneumonia\n", + " definition of HP:0011952 (Acute aspiration pneumonia)\n", + " \n", + " \n", + " An acute episode of pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract.\n", + " definition of HP:0011952 (Acute aspiration pneumonia)\n", + " \n", + " \n", + " Conjunctival papillae\n", + " definition of HP:0030946 (Conjunctival papillae)\n", + " \n", + " \n", + " Raised tissue masses located on the palpebral conjunctiva with a central vessel. Papillae are created by a focal infiltration of inflammatory cells.\n", + " definition of HP:0030946 (Conjunctival papillae)\n", + " \n", + " \n", + " #Bumps under the upper eyelid #Tarsal papillae\n", + " definition of HP:0030946 (Conjunctival papillae)\n", + " \n", + " \n", + " Reduced epidermal plectin protein expression\n", + " definition of HP:0034580 (Reduced epidermal plectin protein expression)\n", + " \n", + " \n", + " #Skin biopsy: plectin antibody staining abnormal or absent\n", + " definition of HP:0034580 (Reduced epidermal plectin protein expression)\n", + " \n", + " \n", + " Bowman-space proteinaceous debris\n", + " definition of HP:0033397 (Bowman-space proteinaceous debris)\n", + " \n", + " \n", + " The presence of eosinophilic Periodic Acid Schiff (PAS)-positive cell free, protein-derived material occupying Bowman's space.\n", + " definition of HP:0033397 (Bowman-space proteinaceous debris)\n", + " \n", + " \n", + " Scaling skin on fingertip\n", + " definition of HP:0025525 (Scaling skin on fingertip)\n", + " \n", + " \n", + " Loss of the outer layer of the epidermis in large, scale-like flakes localized to one or more fingertips.\n", + " definition of HP:0025525 (Scaling skin on fingertip)\n", + " \n", + " \n", + " Death in infancy\n", + " definition of HP:0001522 (Death in infancy)\n", + " \n", + " \n", + " Death within the first 24 months of life.\n", + " definition of HP:0001522 (Death in infancy)\n", + " \n", + " \n", + " #Death in infancy #Infantile death #Lethal in infancy\n", + " definition of HP:0001522 (Death in infancy)\n", + " \n", + " \n", + " Aplasia of the lower vagina\n", + " definition of HP:0012674 (Aplasia of the lower vagina)\n", + " \n", + " \n", + " A failure to develop of the lower part of the vagina.\n", + " definition of HP:0012674 (Aplasia of the lower vagina)\n", + " \n", + " \n", + " #Absent lower vagina #Agenesis of the lower vagina\n", + " definition of HP:0012674 (Aplasia of the lower vagina)\n", + " \n", + " \n", + " Argyrophilic inclusion bodies\n", + " definition of HP:0100317 (Argyrophilic inclusion bodies)\n", + " \n", + " \n", + " Presence of abundant argyrophilic grains and coiled bodies on microscopic examination of brain tissue.\n", + " definition of HP:0100317 (Argyrophilic inclusion bodies)\n", + " \n", + " \n", + " #Agyrophilic inclusion bodies #Pick inclusion bodies\n", + " definition of HP:0100317 (Argyrophilic inclusion bodies)\n", + " \n", + " \n", + " Abnormal brain choline level by MRS\n", + " definition of HP:0025047 (Abnormal brain choline level by MRS)\n", + " \n", + " \n", + " A deviation from normal in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS).\n", + " definition of HP:0025047 (Abnormal brain choline level by MRS)\n", + " \n", + " \n", + " #Abnormal brain choline level by magnetic resonance spectroscopy\n", + " definition of HP:0025047 (Abnormal brain choline level by MRS)\n", + " \n", + " \n", + " Absence of CD8-positive T cells\n", + " definition of HP:0005422 (Absence of CD8-positive T cells)\n", + " \n", + " \n", + " Lack of detectible CD8-positive T cells\n", + " definition of HP:0005422 (Absence of CD8-positive T cells)\n", + " \n", + " \n", + " #Absence of CD8+ T cells\n", + " definition of HP:0005422 (Absence of CD8-positive T cells)\n", + " \n", + " \n", + " 1-4 finger cutaneous syndactyly\n", + " definition of HP:0010707 (1-4 finger cutaneous syndactyly)\n", + " \n", + " \n", + " A soft tissue continuity in the anteroposterior axis between the thumb to the ring finger that extends distally to at least the level of the proximal interphalangeal joints.\n", + " definition of HP:0010707 (1-4 finger cutaneous syndactyly)\n", + " \n", + " \n", + " #Webbed 1st-4th finger\n", + " definition of HP:0010707 (1-4 finger cutaneous syndactyly)\n", + " \n", + " \n", + " Pituitary microadenoma\n", + " definition of HP:0025694 (Pituitary microadenoma)\n", + " \n", + " \n", + " A pituitary adenoma that is less than 10 mm in diameter.\n", + " definition of HP:0025694 (Pituitary microadenoma)\n", + " \n", + " \n", + " Partial right sided absence of pericardium\n", + " definition of HP:0011632 (Partial right sided absence of pericardium)\n", + " \n", + " \n", + " A congenital anomaly with lack of part of the pericardium on the righthand side of the heart.\n", + " definition of HP:0011632 (Partial right sided absence of pericardium)\n", + " \n", + " \n", + " Characteristic of mass\n", + " definition of HP:0025758 (Characteristic of mass)\n", + " \n", + " \n", + " A mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction. This term refers to a property (characteristic) of a mass.\n", + " definition of HP:0025758 (Characteristic of mass)\n", + " \n", + " \n", + " Square humeral metaphysis\n", + " definition of HP:0003923 (Square humeral metaphysis)\n", + " \n", + " \n", + " #Square metaphysis of long bone of upper arm\n", + " definition of HP:0003923 (Square humeral metaphysis)\n", + " \n", + " \n", + " Irregular RR interval\n", + " definition of HP:6001086 (Irregular RR interval)\n", + " \n", + " \n", + " Abnormal increased variability in the timing between consecutive R-waves on an electrocardiogram.\n", + " definition of HP:6001086 (Irregular RR interval)\n", + " \n", + " \n", + " Bone marrow xanthomatosis\n", + " definition of HP:0034627 (Bone marrow xanthomatosis)\n", + " \n", + " \n", + " Lipid deposits localized within the bone marrow. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia.\n", + " definition of HP:0034627 (Bone marrow xanthomatosis)\n", + " \n", + " \n", + " #Bone marrow xanthomas\n", + " definition of HP:0034627 (Bone marrow xanthomatosis)\n", + " \n", + " \n", + " Best corrected visual acuity 1.2 LogMAR\n", + " definition of HP:0030565 (Best corrected visual acuity 1.2 LogMAR)\n", + " \n", + " \n", + " Acute hyperammonemia\n", + " definition of HP:0008281 (Acute hyperammonemia)\n", + " \n", + " \n", + " An increased concentration of ammonia in the blood with sudden onset.\n", + " definition of HP:0008281 (Acute hyperammonemia)\n", + " \n", + " \n", + " #Hyperammonemia, acute\n", + " definition of HP:0008281 (Acute hyperammonemia)\n", + " \n", + " \n", + " Hypometric horizontal saccades\n", + " definition of HP:0007975 (Hypometric horizontal saccades)\n", + " \n", + " \n", + " Saccadic undershoot of horizontal saccadic eye movements, i.e., a horizontal saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object.\n", + " definition of HP:0007975 (Hypometric horizontal saccades)\n", + " \n", + " \n", + " Reticular retinal dystrophy\n", + " definition of HP:0007913 (Reticular retinal dystrophy)\n", + " \n", + " \n", + " A type of of patterned retinal dystrophy that shows a reticular pattern of pigmentation.\n", + " definition of HP:0007913 (Reticular retinal dystrophy)\n", + " \n", + " \n", + " Ureteral agenesis\n", + " definition of HP:0012300 (Ureteral agenesis)\n", + " \n", + " \n", + " Failure of the ureter to undergo development.\n", + " definition of HP:0012300 (Ureteral agenesis)\n", + " \n", + " \n", + " Symphalangism of middle phalanx of 2nd finger\n", + " definition of HP:0009574 (Symphalangism of middle phalanx of 2nd finger)\n", + " \n", + " \n", + " Fusion of the middle phalanx of the 2nd finger with another bone.\n", + " definition of HP:0009574 (Symphalangism of middle phalanx of 2nd finger)\n", + " \n", + " \n", + " #Fused middle bone of index finger\n", + " definition of HP:0009574 (Symphalangism of middle phalanx of 2nd finger)\n", + " \n", + " \n", + " Radial artery aplasia\n", + " definition of HP:0020118 (Radial artery aplasia)\n", + " \n", + " \n", + " Congenital absence of the radial artery.\n", + " definition of HP:0020118 (Radial artery aplasia)\n", + " \n", + " \n", + " Abnormal sudomotor regulation\n", + " definition of HP:0012333 (Abnormal sudomotor regulation)\n", + " \n", + " \n", + " An abnormal regulation of the sweat glands by the sympathetic nervous system associated with abnormal perspiration.\n", + " definition of HP:0012333 (Abnormal sudomotor regulation)\n", + " \n", + " \n", + " #Sudomotor sympathetic dysfunction\n", + " definition of HP:0012333 (Abnormal sudomotor regulation)\n", + " \n", + " \n", + " Synovial lining hyperplasia\n", + " definition of HP:0005186 (Synovial lining hyperplasia)\n", + " \n", + " \n", + " Synovial hyperplasia involves proliferation of mesenchymal stromal/stem cells and leads to synovial thickening, which can be observed radiographically.\n", + " definition of HP:0005186 (Synovial lining hyperplasia)\n", + " \n", + " \n", + " #Synovial hyperplasia #Synovial hypertrophy\n", + " definition of HP:0005186 (Synovial lining hyperplasia)\n", + " \n", + " \n", + " Fatigable weakness of neck muscles\n", + " definition of HP:0030199 (Fatigable weakness of neck muscles)\n", + " \n", + " \n", + " A type of weakness of a skeletal muscle in the neck that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.\n", + " definition of HP:0030199 (Fatigable weakness of neck muscles)\n", + " \n", + " \n", + " Posterior leukoencephalopathy\n", + " definition of HP:0006859 (Posterior leukoencephalopathy)\n", + " \n", + " \n", + " Exostoses\n", + " definition of HP:0100777 (Exostoses)\n", + " \n", + " \n", + " An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.\n", + " definition of HP:0100777 (Exostoses)\n", + " \n", + " \n", + " #Formation of new noncancerous bone on top of existing bone\n", + " definition of HP:0100777 (Exostoses)\n", + " \n", + " \n", + " Cognitive impairment\n", + " definition of HP:0100543 (Cognitive impairment)\n", + " \n", + " \n", + " Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.\n", + " definition of HP:0100543 (Cognitive impairment)\n", + " \n", + " \n", + " #Abnormality of cognition #Cognitive abnormality #Cognitive defects #Cognitive deficits #Cognitive impairment #Intellectual impairment\n", + " definition of HP:0100543 (Cognitive impairment)\n", + " \n", + " \n", + " Broad proximal phalanx of the hallux\n", + " definition of HP:0010086 (Broad proximal phalanx of the hallux)\n", + " \n", + " \n", + " Increased width of proximal phalanx of big toe.\n", + " definition of HP:0010086 (Broad proximal phalanx of the hallux)\n", + " \n", + " \n", + " #Broad innermost bone of the big toe #Broad proximal phalanx of the big toe\n", + " definition of HP:0010086 (Broad proximal phalanx of the hallux)\n", + " \n", + " \n", + " Ventriculomegaly\n", + " definition of HP:0002119 (Ventriculomegaly)\n", + " \n", + " \n", + " An increase in size of the ventricular system of the brain.\n", + " definition of HP:0002119 (Ventriculomegaly)\n", + " \n", + " \n", + " #Cerebral ventricular dilatation #Dilated cerebral ventricle #Dilated cerebral ventricles #Dilated ventricles #Enlarged cerebral ventricles #Enlarged ventricles #Enlarged ventricular system #Large cerebral ventricles and cisternae #Ventricular dilatation\n", + " definition of HP:0002119 (Ventriculomegaly)\n", + " \n", + " \n", + " Abnormality of the testis size\n", + " definition of HP:0045058 (Abnormality of the testis size)\n", + " \n", + " \n", + " An anomaly of the size of the testicle (the male gonad).\n", + " definition of HP:0045058 (Abnormality of the testis size)\n", + " \n", + " \n", + " Shallow anterior chamber\n", + " definition of HP:0000594 (Shallow anterior chamber)\n", + " \n", + " \n", + " Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased.\n", + " definition of HP:0000594 (Shallow anterior chamber)\n", + " \n", + " \n", + " Wide distal femoral metaphysis\n", + " definition of HP:0006387 (Wide distal femoral metaphysis)\n", + " \n", + " \n", + " Increased width of the distal part of the shaft (metaphysis) of the femur.\n", + " definition of HP:0006387 (Wide distal femoral metaphysis)\n", + " \n", + " \n", + " #Broad outermost wide portion of thighbone #Wide distal metaphysis of femur\n", + " definition of HP:0006387 (Wide distal femoral metaphysis)\n", + " \n", + " \n", + " Spastic paraplegia\n", + " definition of HP:0001258 (Spastic paraplegia)\n", + " \n", + " \n", + " Spasticity and weakness of the leg and hip muscles.\n", + " definition of HP:0001258 (Spastic paraplegia)\n", + " \n", + " \n", + " #Spastic paraplegia, lower limb\n", + " definition of HP:0001258 (Spastic paraplegia)\n", + " \n", + " \n", + " Sprengel anomaly\n", + " definition of HP:0000912 (Sprengel anomaly)\n", + " \n", + " \n", + " A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other).\n", + " definition of HP:0000912 (Sprengel anomaly)\n", + " \n", + " \n", + " #Congenital, upward displacement of the scapula #High scapula #High shoulder blade #Sprengel deformity\n", + " definition of HP:0000912 (Sprengel anomaly)\n", + " \n", + " \n", + " Duplication of the 1st metatarsal\n", + " definition of HP:0010075 (Duplication of the 1st metatarsal)\n", + " \n", + " \n", + " A developmental defect consisting in the duplication of the first metatarsal bone.\n", + " definition of HP:0010075 (Duplication of the 1st metatarsal)\n", + " \n", + " \n", + " #Duplicated 1st long bone of foot #Duplicated first metatarsals\n", + " definition of HP:0010075 (Duplication of the 1st metatarsal)\n", + " \n", + " \n", + " Isolated diastolic hypotension\n", + " definition of HP:0500107 (Isolated diastolic hypotension)\n", + " \n", + " \n", + " A decrease in diastolic blood pressure (<60 mmHg) without a decrease in systolic blood pressure (> or = to 100 mmHg).\n", + " definition of HP:0500107 (Isolated diastolic hypotension)\n", + " \n", + " \n", + " Ovarian fibroma\n", + " definition of HP:0010618 (Ovarian fibroma)\n", + " \n", + " \n", + " The presence of a fibroma of the ovary.\n", + " definition of HP:0010618 (Ovarian fibroma)\n", + " \n", + " \n", + " Hyperchloremia\n", + " definition of HP:0011423 (Hyperchloremia)\n", + " \n", + " \n", + " An abnormally increased chloride concentration in the blood.\n", + " definition of HP:0011423 (Hyperchloremia)\n", + " \n", + " \n", + " Clear cell renal cell carcinoma\n", + " definition of HP:0006770 (Clear cell renal cell carcinoma)\n", + " \n", + " \n", + " A subtype of renal cell carcinoma thought to originate from mature renal tubular cells in the proximal tubule of the nehpron.\n", + " definition of HP:0006770 (Clear cell renal cell carcinoma)\n", + " \n", + " \n", + " #Nonpapillary renal cell carcinoma\n", + " definition of HP:0006770 (Clear cell renal cell carcinoma)\n", + " \n", + " \n", + " Reduced hepatic beta-ureidopropionase activity\n", + " definition of HP:6000082 (Reduced hepatic beta-ureidopropionase activity)\n", + " \n", + " \n", + " Activity of beta-ureidopropionase in the liver below the lower limit of normal.\n", + " definition of HP:6000082 (Reduced hepatic beta-ureidopropionase activity)\n", + " \n", + " \n", + " #Liver biopsy: beta-ureidopropionase activity low\n", + " definition of HP:6000082 (Reduced hepatic beta-ureidopropionase activity)\n", + " \n", + " \n", + " Aplasia cutis congenita over parietal area\n", + " definition of HP:0004476 (Aplasia cutis congenita over parietal area)\n", + " \n", + " \n", + " A developmental defect resulting in the congenital absence of skin on the scalp in the parietal area.\n", + " definition of HP:0004476 (Aplasia cutis congenita over parietal area)\n", + " \n", + " \n", + " #Absent cutis congenita over parietal area\n", + " definition of HP:0004476 (Aplasia cutis congenita over parietal area)\n", + " \n", + " \n", + " Arcuate artery intima/media amyloidosis\n", + " definition of HP:0033914 (Arcuate artery intima/media amyloidosis)\n", + " \n", + " \n", + " Amorphous extracellular substance in the inner or middle layer of the arcuate arteries of the kidney. Congo-red positive with typically an apple green birerfingence on polarization microscopy, and 8-12 nm fibrils on electron microscopy.\n", + " definition of HP:0033914 (Arcuate artery intima/media amyloidosis)\n", + " \n", + " \n", + " #Amyloidosis within arcuate arterial intima/media\n", + " definition of HP:0033914 (Arcuate artery intima/media amyloidosis)\n", + " \n", + " \n", + " Fusiform cerebral aneurysm\n", + " definition of HP:0031056 (Fusiform cerebral aneurysm)\n", + " \n", + " \n", + " A localized circumferential (i.e., bulges on all sides) dilatation or ballooning of a cerebral artery.\n", + " definition of HP:0031056 (Fusiform cerebral aneurysm)\n", + " \n", + " \n", + " #Intracranial fusiform aneurysm\n", + " definition of HP:0031056 (Fusiform cerebral aneurysm)\n", + " \n", + " \n", + " Primitive reflex\n", + " definition of HP:0002476 (Primitive reflex)\n", + " \n", + " \n", + " The primitive reflexes are a group of behavioral motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant.\n", + " definition of HP:0002476 (Primitive reflex)\n", + " \n", + " \n", + " #Archaic reflex #Primitive reflexes\n", + " definition of HP:0002476 (Primitive reflex)\n", + " \n", + " \n", + " Sonographic renal salt and pepper pattern\n", + " definition of HP:6000368 (Sonographic renal salt and pepper pattern)\n", + " \n", + " \n", + " Heterogeneous, increased parenchymal echogenicity. This imaging appearance is caused by multiple tiny cysts smaller than or just approaching the size necessary for detection, which disrupt the echo pattern without being clearly distinguishable, and appear as white grains on renal ultrasound, mainly in a subcapsular location.\n", + " definition of HP:6000368 (Sonographic renal salt and pepper pattern)\n", + " \n", + " \n", + " Chronic lymphocytic meningitis\n", + " definition of HP:0007041 (Chronic lymphocytic meningitis)\n", + " \n", + " \n", + " Meningitis that persists for more than 4 weeks, and lymphocytes are present in the cerebrospinal fluid (CSF).\n", + " definition of HP:0007041 (Chronic lymphocytic meningitis)\n", + " \n", + " \n", + " Absent proximal radial epiphyses\n", + " definition of HP:0005093 (Absent proximal radial epiphyses)\n", + " \n", + " \n", + " Absence of the proximal radial epiphysis.\n", + " definition of HP:0005093 (Absent proximal radial epiphyses)\n", + " \n", + " \n", + " Bipartite patella\n", + " definition of HP:0010498 (Bipartite patella)\n", + " \n", + " \n", + " A developmental defect that occurs if the two halves of the patella fail to fuse in early childhood.\n", + " definition of HP:0010498 (Bipartite patella)\n", + " \n", + " \n", + " Monoclonal immunoglobulin M proteinemia\n", + " definition of HP:0005508 (Monoclonal immunoglobulin M proteinemia)\n", + " \n", + " \n", + " Presence of a monoclonal immunoglobulin M protein in the serum.\n", + " definition of HP:0005508 (Monoclonal immunoglobulin M proteinemia)\n", + " \n", + " \n", + " Vasa previa\n", + " definition of HP:0033991 (Vasa previa)\n", + " \n", + " \n", + " Vasa previa occurs when the membranes that contain the umbilical cord traverse the membranes overlying the internal os of the cervix. There is a high risk of fetal mortality if not identified perinatally.\n", + " definition of HP:0033991 (Vasa previa)\n", + " \n", + " \n", + " Small epiphysis of the distal phalanx of the 5th finger\n", + " definition of HP:0009148 (Small epiphysis of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms.\n", + " definition of HP:0009148 (Small epiphysis of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " #Small end part of the outermost bone of little finger #Small end part of the outermost bone of pinkie finger #Small end part of the outermost bone of pinky finger\n", + " definition of HP:0009148 (Small epiphysis of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " Chronic partially decreased circulating IgG3\n", + " definition of HP:0041075 (Chronic partially decreased circulating IgG3)\n", + " \n", + " \n", + " A lasting limited decrease of immunoglobulin G3 (IgG3) in the blood.\n", + " definition of HP:0041075 (Chronic partially decreased circulating IgG3)\n", + " \n", + " \n", + " #Chronic partially decreased IgG3 in blood\n", + " definition of HP:0041075 (Chronic partially decreased circulating IgG3)\n", + " \n", + " \n", + " Abnormal proportion of effector memory CD8-positive, alpha-beta T cells\n", + " definition of HP:0410383 (Abnormal proportion of effector memory CD8-positive, alpha-beta T cells)\n", + " \n", + " \n", + " An abnormal proportion of effector memory CD8-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-negative, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative.\n", + " definition of HP:0410383 (Abnormal proportion of effector memory CD8-positive, alpha-beta T cells)\n", + " \n", + " \n", + " Focal aware sensory seizure with gustatory features\n", + " definition of HP:0032889 (Focal aware sensory seizure with gustatory features)\n", + " \n", + " \n", + " A seizure characterized by taste phenomena including acidic, bitter, salty, sweet, or metallic tastes.\n", + " definition of HP:0032889 (Focal aware sensory seizure with gustatory features)\n", + " \n", + " \n", + " Abnormal papillary muscle morphology\n", + " definition of HP:0025445 (Abnormal papillary muscle morphology)\n", + " \n", + " \n", + " Any structural anomaly of the papillary muscles of the left ventricle.\n", + " definition of HP:0025445 (Abnormal papillary muscle morphology)\n", + " \n", + " \n", + " #Morphological abnormality of the papillary muscles\n", + " definition of HP:0025445 (Abnormal papillary muscle morphology)\n", + " \n", + " \n", + " Rete ridge flattening\n", + " definition of HP:0025117 (Rete ridge flattening)\n", + " \n", + " \n", + " Rete pegs (or ridges) are the epithelial extensions that project into the underlying connective tissue in both skin and mucous membranes. Rete ridge flattening refers to the loss of these projections so that the skin epithelium acquires a relatively flat appearance.\n", + " definition of HP:0025117 (Rete ridge flattening)\n", + " \n", + " \n", + " #Flattened rete pegs #Flattened rete ridges\n", + " definition of HP:0025117 (Rete ridge flattening)\n", + " \n", + " \n", + " Visual fixation instability\n", + " definition of HP:0025405 (Visual fixation instability)\n", + " \n", + " \n", + " A deficit in the ability to fixate eye movements in order to stabilize images on the retina\n", + " definition of HP:0025405 (Visual fixation instability)\n", + " \n", + " \n", + " #Instability of ocular fixation\n", + " definition of HP:0025405 (Visual fixation instability)\n", + " \n", + " \n", + " Flat glenoid fossa\n", + " definition of HP:0000911 (Flat glenoid fossa)\n", + " \n", + " \n", + " Abnormally flat configuration of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus.\n", + " definition of HP:0000911 (Flat glenoid fossa)\n", + " \n", + " \n", + " Decreased serum zinc\n", + " definition of HP:0031831 (Decreased serum zinc)\n", + " \n", + " \n", + " A reduced concentration of zinc in the blood.\n", + " definition of HP:0031831 (Decreased serum zinc)\n", + " \n", + " \n", + " Deficit in nonword repetition\n", + " definition of HP:0002526 (Deficit in nonword repetition)\n", + " \n", + " \n", + " Impaired ability to repeat non-word sounds. Nonword repetition (NWR) is a measure of short-term phonological memory.\n", + " definition of HP:0002526 (Deficit in nonword repetition)\n", + " \n", + " \n", + " Metaphyseal cupping of proximal phalanges\n", + " definition of HP:0006208 (Metaphyseal cupping of proximal phalanges)\n", + " \n", + " \n", + " Metaphyseal cupping affecting the proximal phalanges.\n", + " definition of HP:0006208 (Metaphyseal cupping of proximal phalanges)\n", + " \n", + " \n", + " Vitreous inflammatory cells\n", + " definition of HP:0030662 (Vitreous inflammatory cells)\n", + " \n", + " \n", + " The presence of inflammatory cells such as lymphocytes and macrophages in the vitreous.\n", + " definition of HP:0030662 (Vitreous inflammatory cells)\n", + " \n", + " \n", + " Respiratory distress\n", + " definition of HP:0002098 (Respiratory distress)\n", + " \n", + " \n", + " Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.\n", + " definition of HP:0002098 (Respiratory distress)\n", + " \n", + " \n", + " #Breathing difficulties #Labored breathing #Laboured breathing #Respiratory difficulties\n", + " definition of HP:0002098 (Respiratory distress)\n", + " \n", + " \n", + " Crossed fused renal ectopia\n", + " definition of HP:0004736 (Crossed fused renal ectopia)\n", + " \n", + " \n", + " A developmental anomaly in which the kidneys are fused and localized on the same side of the midline. This anomaly is thought to result from disruption of the normal embryologic migration of the kidneys.\n", + " definition of HP:0004736 (Crossed fused renal ectopia)\n", + " \n", + " \n", + " #Crossed-fused renal ectopia #Ectopic kidney with fusion\n", + " definition of HP:0004736 (Crossed fused renal ectopia)\n", + " \n", + " \n", + " Mitochondrial myopathy\n", + " definition of HP:0003737 (Mitochondrial myopathy)\n", + " \n", + " \n", + " A type of myopathy associated with mitochondrial disease and characterized by findings on biopsy such as ragged red muscle fibers.\n", + " definition of HP:0003737 (Mitochondrial myopathy)\n", + " \n", + " \n", + " Ectopia lentis\n", + " definition of HP:0001083 (Ectopia lentis)\n", + " \n", + " \n", + " Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation.\n", + " definition of HP:0001083 (Ectopia lentis)\n", + " \n", + " \n", + " #Abnormality of lens position #Lens dislocation\n", + " definition of HP:0001083 (Ectopia lentis)\n", + " \n", + " \n", + " Labial abscess\n", + " definition of HP:0033758 (Labial abscess)\n", + " \n", + " \n", + " A circumscribed area of pus or necrotic debris in the labia.\n", + " definition of HP:0033758 (Labial abscess)\n", + " \n", + " \n", + " #Abscess of the labia\n", + " definition of HP:0033758 (Labial abscess)\n", + " \n", + " \n", + " Focal cognitive seizure with conduction dysphasia/aphasia\n", + " definition of HP:0032698 (Focal cognitive seizure with conduction dysphasia/aphasia)\n", + " \n", + " \n", + " A focal cognitive seizure characterized by conduction dysphasia / aphasia as the initial semiological manifestation.\n", + " definition of HP:0032698 (Focal cognitive seizure with conduction dysphasia/aphasia)\n", + " \n", + " \n", + " Oval face\n", + " definition of HP:0000300 (Oval face)\n", + " \n", + " \n", + " A face with a rounded and slightly elongated outline.\n", + " definition of HP:0000300 (Oval face)\n", + " \n", + " \n", + " #Oval face #Oval facial shape #Oval facies\n", + " definition of HP:0000300 (Oval face)\n", + " \n", + " \n", + " Nail-biting\n", + " definition of HP:0012170 (Nail-biting)\n", + " \n", + " \n", + " Habitual biting of one's own fingernails.\n", + " definition of HP:0012170 (Nail-biting)\n", + " \n", + " \n", + " #Nail-biting #Onychophagia #Onychophagy\n", + " definition of HP:0012170 (Nail-biting)\n", + " \n", + " \n", + " Jamais vu aura\n", + " definition of HP:0012006 (Jamais vu aura)\n", + " \n", + " \n", + " A subjective feeling that an experience which has occurred before is being experienced for the first time.\n", + " definition of HP:0012006 (Jamais vu aura)\n", + " \n", + " \n", + " #Jamais vu\n", + " definition of HP:0012006 (Jamais vu aura)\n", + " \n", + " \n", + " Mode of inheritance\n", + " definition of HP:0000005 (Mode of inheritance)\n", + " \n", + " \n", + " The pattern in which a particular genetic trait or disorder is passed from one generation to the next.\n", + " definition of HP:0000005 (Mode of inheritance)\n", + " \n", + " \n", + " #Inheritance\n", + " definition of HP:0000005 (Mode of inheritance)\n", + " \n", + " \n", + " Focal aware sensory seizure with olfactory features\n", + " definition of HP:0032797 (Focal aware sensory seizure with olfactory features)\n", + " \n", + " \n", + " Seizures characterized by olfactory phenomena at onset - usually an odor, which is often unpleasant.\n", + " definition of HP:0032797 (Focal aware sensory seizure with olfactory features)\n", + " \n", + " \n", + " Increased HbA2 hemoglobin\n", + " definition of HP:0045048 (Increased HbA2 hemoglobin)\n", + " \n", + " \n", + " An elevated concentration in the blood of hemoglobin A2 (HbA2), which is a normal variant of hemoglobin A that consists of two alpha and two delta chains and is normally present at low levels in adults but may be increased in beta thalassemia.\n", + " definition of HP:0045048 (Increased HbA2 hemoglobin)\n", + " \n", + " \n", + " #Increased haemoglobin A2 #Increased HbA2 haemoglobin #Increased hemoglobin A2\n", + " definition of HP:0045048 (Increased HbA2 hemoglobin)\n", + " \n", + " \n", + " Single lesion\n", + " definition of HP:6000914 (Single lesion)\n", + " \n", + " \n", + " Applies to an abnormality whose distribution and appearance are solitary and localized to a part of the skin, a tissue or an organ that differs from the surrounding healthy tissue.\n", + " definition of HP:6000914 (Single lesion)\n", + " \n", + " \n", + " Reduced leukocyte N-sulfoglucosamine sulfohydrolase activity\n", + " definition of HP:4000193 (Reduced leukocyte N-sulfoglucosamine sulfohydrolase activity)\n", + " \n", + " \n", + " Concentration or activity of N-sulfoglucosamine sulfohydrolase as measured in leukocytes is below the limits of normal.\n", + " definition of HP:4000193 (Reduced leukocyte N-sulfoglucosamine sulfohydrolase activity)\n", + " \n", + " \n", + " #Reduced leukocyte N-sulphoglucosamine sulphohydrolase activity\n", + " definition of HP:4000193 (Reduced leukocyte N-sulfoglucosamine sulfohydrolase activity)\n", + " \n", + " \n", + " Abnormality of superoxide metabolism\n", + " definition of HP:0004358 (Abnormality of superoxide metabolism)\n", + " \n", + " \n", + " Optic nerve gray crescent\n", + " definition of HP:0500086 (Optic nerve gray crescent)\n", + " \n", + " \n", + " Having a characteristic appearance of a slate gray area of pigmentation within the disk margins that commonly appears along the inferotemporal or temporal neuroretinal rim areas.\n", + " definition of HP:0500086 (Optic nerve gray crescent)\n", + " \n", + " \n", + " #Optic nerve grey crescent #Temporal gray pigmentary crescent #Temporal grey pigmentary crescent\n", + " definition of HP:0500086 (Optic nerve gray crescent)\n", + " \n", + " \n", + " Unilateral cryptorchidism\n", + " definition of HP:0012741 (Unilateral cryptorchidism)\n", + " \n", + " \n", + " Absence of a testis from the scrotum on one side owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.\n", + " definition of HP:0012741 (Unilateral cryptorchidism)\n", + " \n", + " \n", + " #Cryptorchidism, unilateral\n", + " definition of HP:0012741 (Unilateral cryptorchidism)\n", + " \n", + " \n", + " Atrial septal hypertrophy\n", + " definition of HP:0031296 (Atrial septal hypertrophy)\n", + " \n", + " \n", + " An abnormal increase in the thickness of the atrial septum.\n", + " definition of HP:0031296 (Atrial septal hypertrophy)\n", + " \n", + " \n", + " Hypometric saccades\n", + " definition of HP:0000571 (Hypometric saccades)\n", + " \n", + " \n", + " Saccadic undershoot, i.e., a saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object.\n", + " definition of HP:0000571 (Hypometric saccades)\n", + " \n", + " \n", + " Abnormal alveolar ridge morphology\n", + " definition of HP:0006477 (Abnormal alveolar ridge morphology)\n", + " \n", + " \n", + " Any abnormality of the alveolar ridges (on the upper or lower jaws). The alveolar ridges contain the sockets (alveoli) of the teeth.\n", + " definition of HP:0006477 (Abnormal alveolar ridge morphology)\n", + " \n", + " \n", + " #Abnormality of alveolar margin #Abnormality of dentoalveolar ridges #Abnormality of gum ridge #Defect in alveolar ridge\n", + " definition of HP:0006477 (Abnormal alveolar ridge morphology)\n", + " \n", + " \n", + " Flaring of lower rib cage\n", + " definition of HP:0006589 (Flaring of lower rib cage)\n", + " \n", + " \n", + " #Flaring of lower rib cage\n", + " definition of HP:0006589 (Flaring of lower rib cage)\n", + " \n", + " \n", + " Restrictive behavior\n", + " definition of HP:0000723 (Restrictive behavior)\n", + " \n", + " \n", + " Behavior characterized by an abnormal limitation to a few interests and activities.\n", + " definition of HP:0000723 (Restrictive behavior)\n", + " \n", + " \n", + " #Restricted behavior #Restricted behaviour #Restrictive behavior\n", + " definition of HP:0000723 (Restrictive behavior)\n", + " \n", + " \n", + " Abnormal mitochondrial shape\n", + " definition of HP:0012087 (Abnormal mitochondrial shape)\n", + " \n", + " \n", + " An anomaly in the surface contour of mitochondria.\n", + " definition of HP:0012087 (Abnormal mitochondrial shape)\n", + " \n", + " \n", + " Abnormality of peripheral nerve conduction\n", + " definition of HP:0003134 (Abnormality of peripheral nerve conduction)\n", + " \n", + " \n", + " An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS).\n", + " definition of HP:0003134 (Abnormality of peripheral nerve conduction)\n", + " \n", + " \n", + " #Sensory and motor nerve conduction abnormalities\n", + " definition of HP:0003134 (Abnormality of peripheral nerve conduction)\n", + " \n", + " \n", + " Distal ileal atresia\n", + " definition of HP:0200116 (Distal ileal atresia)\n", + " \n", + " \n", + " Ivory epiphysis of the distal phalanx of the 2nd toe\n", + " definition of HP:0100106 (Ivory epiphysis of the distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Increased bone density of end part of the outermost bone of the 2nd toe\n", + " definition of HP:0100106 (Ivory epiphysis of the distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Orbital schwannoma\n", + " definition of HP:0025604 (Orbital schwannoma)\n", + " \n", + " \n", + " A schwannoma (benign, usually encapsulated slow growing tumor composed of Schwann cells) located in the orbit.\n", + " definition of HP:0025604 (Orbital schwannoma)\n", + " \n", + " \n", + " Rosette\n", + " definition of HP:0031925 (Rosette)\n", + " \n", + " \n", + " A halo or spoke-wheel arrangement of cells surrounding a central core or hub. The central hub may consist of an empty-appearing lumen or a space filled with cytoplasmic processes. The cytoplasm of each of the cells in the rosette is often wedge-shaped with the apex directed toward the central core; the nuclei of the cells participating in the rosette are peripherally positioned and form a ring or halo around the hub.\n", + " definition of HP:0031925 (Rosette)\n", + " \n", + " \n", + " Mosaic pulmonary attenuation pattern\n", + " definition of HP:0033537 (Mosaic pulmonary attenuation pattern)\n", + " \n", + " \n", + " Mosaic attenuation refers to heterogeneous areas of differing pulmonary attenuation on CT imaging.\n", + " definition of HP:0033537 (Mosaic pulmonary attenuation pattern)\n", + " \n", + " \n", + " Intestinal ischemia\n", + " definition of HP:0033404 (Intestinal ischemia)\n", + " \n", + " \n", + " Restriction of arterial blood supply to the intestine associated with insufficient oxygenation to support the metabolic requirements of the tissue. Acute intestinal ischemia can involve the small or large intestine, and usually presents with sudden severe non-specific abdominal pain.\n", + " definition of HP:0033404 (Intestinal ischemia)\n", + " \n", + " \n", + " Visual acuity test abnormality\n", + " definition of HP:0030532 (Visual acuity test abnormality)\n", + " \n", + " \n", + " Pseudoepiphyses of the toes\n", + " definition of HP:0010169 (Pseudoepiphyses of the toes)\n", + " \n", + " \n", + " Moderate oligozoospermia\n", + " definition of HP:0034817 (Moderate oligozoospermia)\n", + " \n", + " \n", + " A type of oligozoospermia characterized by a total number of more than 10 but less than 29 million sperm in the ejaculate or a concentration of more than 5 but less than 10 million sperm per milliliter.\n", + " definition of HP:0034817 (Moderate oligozoospermia)\n", + " \n", + " \n", + " Abnormality of the spleen\n", + " definition of HP:0001743 (Abnormality of the spleen)\n", + " \n", + " \n", + " An abnormality of the spleen.\n", + " definition of HP:0001743 (Abnormality of the spleen)\n", + " \n", + " \n", + " #Abnormality of the spleen\n", + " definition of HP:0001743 (Abnormality of the spleen)\n", + " \n", + " \n", + " Abnormal mastoid morphology\n", + " definition of HP:0000264 (Abnormal mastoid morphology)\n", + " \n", + " \n", + " An abnormality of the mastoid process, which is the conical prominence projecting from the undersurface of the mastoid portion of the temporal bone.\n", + " definition of HP:0000264 (Abnormal mastoid morphology)\n", + " \n", + " \n", + " #Abnormality of mastoid process of temporal bone #Abnormality of the mastoid\n", + " definition of HP:0000264 (Abnormal mastoid morphology)\n", + " \n", + " \n", + " Anomalous origin of one pulmonary artery from ascending aorta\n", + " definition of HP:0011660 (Anomalous origin of one pulmonary artery from ascending aorta)\n", + " \n", + " \n", + " Anomalous origin of one pulmonary artery from the ascending aorta with the contralateral pulmonary artery arising from the right ventricle.\n", + " definition of HP:0011660 (Anomalous origin of one pulmonary artery from ascending aorta)\n", + " \n", + " \n", + " #Hemitruncus\n", + " definition of HP:0011660 (Anomalous origin of one pulmonary artery from ascending aorta)\n", + " \n", + " \n", + " Headache\n", + " definition of HP:0002315 (Headache)\n", + " \n", + " \n", + " Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.\n", + " definition of HP:0002315 (Headache)\n", + " \n", + " \n", + " #Headache #Headaches\n", + " definition of HP:0002315 (Headache)\n", + " \n", + " \n", + " Abnormal prolactin level\n", + " definition of HP:0040086 (Abnormal prolactin level)\n", + " \n", + " \n", + " #Abnormal prolactin level\n", + " definition of HP:0040086 (Abnormal prolactin level)\n", + " \n", + " \n", + " Scoliosis\n", + " definition of HP:0002650 (Scoliosis)\n", + " \n", + " \n", + " The presence of an abnormal lateral curvature of the spine.\n", + " definition of HP:0002650 (Scoliosis)\n", + " \n", + " \n", + " Lateral rectus muscle restriction\n", + " definition of HP:0031758 (Lateral rectus muscle restriction)\n", + " \n", + " \n", + " Mechanical limitation of the range of movement of the lateral rectus muscle.\n", + " definition of HP:0031758 (Lateral rectus muscle restriction)\n", + " \n", + " \n", + " Increased proportion autoreactive unresponsive CD21-/low B cells\n", + " definition of HP:0033207 (Increased proportion autoreactive unresponsive CD21-/low B cells)\n", + " \n", + " \n", + " Increased proportion relative to B-lymphocytes of a subset of B lymphocytes characterized by dim/low levels of CD21, i.e., CD21-/low, in flow cytometry, and additionally enriched in autoreactive clones as determined for instance by clonse showing rheumatoid factor (anti-IgG) reactivity and antibodies recognizing cytoplasmic and to a lesser extent nuclear structures.\n", + " definition of HP:0033207 (Increased proportion autoreactive unresponsive CD21-/low B cells)\n", + " \n", + " \n", + " Decreased circulating corticosterone level\n", + " definition of HP:0032363 (Decreased circulating corticosterone level)\n", + " \n", + " \n", + " An abnormally reduced concentration of corticosterone in the blood.\n", + " definition of HP:0032363 (Decreased circulating corticosterone level)\n", + " \n", + " \n", + " Oral cavity bleeding\n", + " definition of HP:0030140 (Oral cavity bleeding)\n", + " \n", + " \n", + " Recurrent or excessive bleeding from the mouth.\n", + " definition of HP:0030140 (Oral cavity bleeding)\n", + " \n", + " \n", + " #Bleeding from mouth #Oral cavity bleeding #Oral cavity haemorrhage #Oral cavity hemorrhage\n", + " definition of HP:0030140 (Oral cavity bleeding)\n", + " \n", + " \n", + " Duplication of the middle phalanx of the 3rd toe\n", + " definition of HP:0100401 (Duplication of the middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " Partial or complete duplication of middle phalanx of third toe.\n", + " definition of HP:0100401 (Duplication of the middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Duplication of the middle bone of the 3rd toe #Duplication of the middle phalanx of the third toe #Partial/complete duplication of the middle phalanx of the 3rd toe\n", + " definition of HP:0100401 (Duplication of the middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " Lytic defects of the radius\n", + " definition of HP:0003979 (Lytic defects of the radius)\n", + " \n", + " \n", + " Abnormal Amsler grid test\n", + " definition of HP:0030590 (Abnormal Amsler grid test)\n", + " \n", + " \n", + " Ocular anterior segment dysgenesis\n", + " definition of HP:0007700 (Ocular anterior segment dysgenesis)\n", + " \n", + " \n", + " Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin.\n", + " definition of HP:0007700 (Ocular anterior segment dysgenesis)\n", + " \n", + " \n", + " #Anterior chamber cleavage defect #Anterior chamber cleavage disorder #Anterior chamber malformation #Anterior chamber mesodermal anomalies #Anterior segment developmental abnormality #Anterior segment dysgenesis #Anterior segment mesencyhmal dysgenesis #Anterior segment ocular dysgenesis\n", + " definition of HP:0007700 (Ocular anterior segment dysgenesis)\n", + " \n", + " \n", + " Pituitary corticotropic cell adenoma\n", + " definition of HP:0008291 (Pituitary corticotropic cell adenoma)\n", + " \n", + " \n", + " A type of pituitary adenoma that produces adrenocorticotropic hormone (ACTH).\n", + " definition of HP:0008291 (Pituitary corticotropic cell adenoma)\n", + " \n", + " \n", + " #ACTH-producing pituitary adenoma #Corticotropin-secreting pituitary adenoma\n", + " definition of HP:0008291 (Pituitary corticotropic cell adenoma)\n", + " \n", + " \n", + " Reduced tissue fatty aldehyde dehydrogenase activity\n", + " definition of HP:6000720 (Reduced tissue fatty aldehyde dehydrogenase activity)\n", + " \n", + " \n", + " Activity of fatty aldehyde dehydrogenase (EC 1.2.1.3) in tissues below the lower limit of normal. The activity can be measured in multiple tissues including culutured fibroblasts and leukocytes.\n", + " definition of HP:6000720 (Reduced tissue fatty aldehyde dehydrogenase activity)\n", + " \n", + " \n", + " Reduced co-speech gestures\n", + " definition of HP:5200055 (Reduced co-speech gestures)\n", + " \n", + " \n", + " Reduced use of speech-integrated gestures such as the use of beat gestures.\n", + " definition of HP:5200055 (Reduced co-speech gestures)\n", + " \n", + " \n", + " Sclerosis of the proximal phalanx of the 4th finger\n", + " definition of HP:0100910 (Sclerosis of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " #Increased bone density in the innermost bone of the ring finger\n", + " definition of HP:0100910 (Sclerosis of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " Cerebral amyloid angiopathy\n", + " definition of HP:0011970 (Cerebral amyloid angiopathy)\n", + " \n", + " \n", + " Amyloid deposition in the walls of leptomeningeal and cortical arteries, arterioles, and less often capillaries and veins of the central nervous system.\n", + " definition of HP:0011970 (Cerebral amyloid angiopathy)\n", + " \n", + " \n", + " Limbal dermoid\n", + " definition of HP:0001140 (Limbal dermoid)\n", + " \n", + " \n", + " A benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid).\n", + " definition of HP:0001140 (Limbal dermoid)\n", + " \n", + " \n", + " #Epibulbar dermoid #Epibulbar dermoids\n", + " definition of HP:0001140 (Limbal dermoid)\n", + " \n", + " \n", + " Absent platelet dense granules\n", + " definition of HP:0033263 (Absent platelet dense granules)\n", + " \n", + " \n", + " Lack of platelet dense granules, a type of platelet organelles.\n", + " definition of HP:0033263 (Absent platelet dense granules)\n", + " \n", + " \n", + " #Absent platelet dense bodies\n", + " definition of HP:0033263 (Absent platelet dense granules)\n", + " \n", + " \n", + " Abnormality of the phalanges of the 5th toe\n", + " definition of HP:0010342 (Abnormality of the phalanges of the 5th toe)\n", + " \n", + " \n", + " #Abnormality of the little toe bones #Abnormality of the pinkie toe bones #Abnormality of the pinky toe bones\n", + " definition of HP:0010342 (Abnormality of the phalanges of the 5th toe)\n", + " \n", + " \n", + " Elevated urinary catecholamine level\n", + " definition of HP:0011976 (Elevated urinary catecholamine level)\n", + " \n", + " \n", + " The concentration of a catecholamine in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:0011976 (Elevated urinary catecholamine level)\n", + " \n", + " \n", + " #Elevated urinary catecholamines\n", + " definition of HP:0011976 (Elevated urinary catecholamine level)\n", + " \n", + " \n", + " Atrial septal dilatation\n", + " definition of HP:0011995 (Atrial septal dilatation)\n", + " \n", + " \n", + " A bulging of the interatrial septum towards one side. In adults, atrial septal aneurysm can be defined as a protrusion of the aneurysm of >10 mm beyond the plane of the atrial septum as measured by transesophageal echocardiography.\n", + " definition of HP:0011995 (Atrial septal dilatation)\n", + " \n", + " \n", + " Orofacial action-specific dystonia induced by speech\n", + " definition of HP:0031007 (Orofacial action-specific dystonia induced by speech)\n", + " \n", + " \n", + " Neonatal seizure with electrographic correlate\n", + " definition of HP:0032808 (Neonatal seizure with electrographic correlate)\n", + " \n", + " \n", + " Neonatal seizure is a seizure type that occurs in neonatal period and is characterized by an electrographic event with sudden, repetitive, evolving stereotyped waveforms with a beginning and an end. This event can be associated or not with a clinical manifestation.\n", + " definition of HP:0032808 (Neonatal seizure with electrographic correlate)\n", + " \n", + " \n", + " High myopia\n", + " definition of HP:0011003 (High myopia)\n", + " \n", + " \n", + " A severe form of myopia with greater than -6.00 diopters.\n", + " definition of HP:0011003 (High myopia)\n", + " \n", + " \n", + " #Severe myopia #Severe myopia (> -6.00 diopters) #Severe near sightedness #Severely close sighted #Severely near sighted\n", + " definition of HP:0011003 (High myopia)\n", + " \n", + " \n", + " Decreased circulating androgen concentration\n", + " definition of HP:0030349 (Decreased circulating androgen concentration)\n", + " \n", + " \n", + " A reduction in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone.\n", + " definition of HP:0030349 (Decreased circulating androgen concentration)\n", + " \n", + " \n", + " #Decreased circulating androgen level\n", + " definition of HP:0030349 (Decreased circulating androgen concentration)\n", + " \n", + " \n", + " Anterior beaking of lower thoracic vertebrae\n", + " definition of HP:0004607 (Anterior beaking of lower thoracic vertebrae)\n", + " \n", + " \n", + " Anterior tongue-like protrusions of the lower thoracic vertebral bodies.\n", + " definition of HP:0004607 (Anterior beaking of lower thoracic vertebrae)\n", + " \n", + " \n", + " Apical hypertrabeculation of the left ventricle\n", + " definition of HP:0031195 (Apical hypertrabeculation of the left ventricle)\n", + " \n", + " \n", + " An increased number and density of the trabeculae in the apex (tip) of the left ventricle.\n", + " definition of HP:0031195 (Apical hypertrabeculation of the left ventricle)\n", + " \n", + " \n", + " Profound global developmental delay\n", + " definition of HP:0012736 (Profound global developmental delay)\n", + " \n", + " \n", + " A profound delay in the achievement of motor or mental milestones in the domains of development of a child.\n", + " definition of HP:0012736 (Profound global developmental delay)\n", + " \n", + " \n", + " #Global developmental delay, profound\n", + " definition of HP:0012736 (Profound global developmental delay)\n", + " \n", + " \n", + " Recurrent fever\n", + " definition of HP:0001954 (Recurrent fever)\n", + " \n", + " \n", + " Periodic (episodic or recurrent) bouts of fever.\n", + " definition of HP:0001954 (Recurrent fever)\n", + " \n", + " \n", + " #Episodic fever #Hyperthermia, episodic #Increased body temperature, episodic #Intermittent fever\n", + " definition of HP:0001954 (Recurrent fever)\n", + " \n", + " \n", + " Motor delay\n", + " definition of HP:0001270 (Motor delay)\n", + " \n", + " \n", + " A type of Developmental delay characterized by a delay in acquiring motor skills.\n", + " definition of HP:0001270 (Motor delay)\n", + " \n", + " \n", + " #Delay in development of motor milestones #Delay in motor development #Delayed development of motor milestones #Delayed early motor milestones #Delayed motor development #Delayed motor milestones #Locomotor delay #Motor developmental delay #Motor developmental milestones not achieved #Motor retardation #Retarded motor development #Slow development of motor milestones\n", + " definition of HP:0001270 (Motor delay)\n", + " \n", + " \n", + " Compulsive behaviors\n", + " definition of HP:0000722 (Compulsive behaviors)\n", + " \n", + " \n", + " Behavior that consists of repetitive acts, characterized by the feeling that one \\"has to\\" perform them, while being aware that these acts are not in line with one's overall goal.\n", + " definition of HP:0000722 (Compulsive behaviors)\n", + " \n", + " \n", + " #Obsessive compulsive behavior #Obsessive compulsive behaviour #Obsessive compulsive disorder #Obsessive-compulsive behavior #Obsessive-compulsive behaviour #Obsessive-compulsive disorder #OCD\n", + " definition of HP:0000722 (Compulsive behaviors)\n", + " \n", + " \n", + " Umbilical cord hematoma\n", + " definition of HP:0030657 (Umbilical cord hematoma)\n", + " \n", + " \n", + " Bleeding from the vessels of the cord with extravasation of blood into the Wharton jelly surrounding the umbilical cord vessels.\n", + " definition of HP:0030657 (Umbilical cord hematoma)\n", + " \n", + " \n", + " #Umbilical cord haematoma\n", + " definition of HP:0030657 (Umbilical cord hematoma)\n", + " \n", + " \n", + " Focal impaired awareness motor seizure with dystonia\n", + " definition of HP:0032717 (Focal impaired awareness motor seizure with dystonia)\n", + " \n", + " \n", + " A focal motor seizure with dystonia characterized by impaired awareness at some point during the seizure.\n", + " definition of HP:0032717 (Focal impaired awareness motor seizure with dystonia)\n", + " \n", + " \n", + " #Focal motor impaired awareness seizure with dystonia\n", + " definition of HP:0032717 (Focal impaired awareness motor seizure with dystonia)\n", + " \n", + " \n", + " Cotton wool plaques\n", + " definition of HP:0500028 (Cotton wool plaques)\n", + " \n", + " \n", + " Deposition of large, diffuse cotton wool amyloid plaques (CWPs) lacking a dense core and associated neuritic changes.\n", + " definition of HP:0500028 (Cotton wool plaques)\n", + " \n", + " \n", + " #CWPs\n", + " definition of HP:0500028 (Cotton wool plaques)\n", + " \n", + " \n", + " Abnormal lateral rectus muscle physiology\n", + " definition of HP:0031749 (Abnormal lateral rectus muscle physiology)\n", + " \n", + " \n", + " A functional anomaly of the lateral rectus muscle.\n", + " definition of HP:0031749 (Abnormal lateral rectus muscle physiology)\n", + " \n", + " \n", + " Focal necrotic optic nerve lesion\n", + " definition of HP:0034987 (Focal necrotic optic nerve lesion)\n", + " \n", + " \n", + " A localized area of cell death, often accompanied by infiltration of inflammatory cells, in the optic nerve.\n", + " definition of HP:0034987 (Focal necrotic optic nerve lesion)\n", + " \n", + " \n", + " Pseudobulbar paralysis\n", + " definition of HP:0007024 (Pseudobulbar paralysis)\n", + " \n", + " \n", + " Bilateral impairment of the function of the cranial nerves 9-12, which control musculature involved in eating, swallowing, and speech. Pseudobulbar paralysis is characterized clinically by dysarthria, dysphonia, and dysphagia with bifacial paralysis, and may be accompanied by Pseudobulbar behavioral symptoms such as enforced crying and laughing.\n", + " definition of HP:0007024 (Pseudobulbar paralysis)\n", + " \n", + " \n", + " #Pseudobulbar palsy #Pseudobulbar syndrome\n", + " definition of HP:0007024 (Pseudobulbar paralysis)\n", + " \n", + " \n", + " Elevated urine propionylglycine level\n", + " definition of HP:0034658 (Elevated urine propionylglycine level)\n", + " \n", + " \n", + " Amount of propionylglycine in the urine above the upper limit of normal.\n", + " definition of HP:0034658 (Elevated urine propionylglycine level)\n", + " \n", + " \n", + " Abnormal speech rate\n", + " definition of HP:5200011 (Abnormal speech rate)\n", + " \n", + " \n", + " Speech that is abnormally fast or slow as compared to the perceived cultural norm.\n", + " definition of HP:5200011 (Abnormal speech rate)\n", + " \n", + " \n", + " Abnormality of the internal auditory canal\n", + " definition of HP:0011384 (Abnormality of the internal auditory canal)\n", + " \n", + " \n", + " An abnormality of the Internal acoustic meatus, i.e., of the canal in the petrous part of the temporal bone through which the cranial nerve VII and cranial nerve VIII traverse.\n", + " definition of HP:0011384 (Abnormality of the internal auditory canal)\n", + " \n", + " \n", + " #Abnormality of the internal acoustic meatus\n", + " definition of HP:0011384 (Abnormality of the internal auditory canal)\n", + " \n", + " \n", + " Abnormal circulating erythropoietin concentration\n", + " definition of HP:0034442 (Abnormal circulating erythropoietin concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production.\n", + " definition of HP:0034442 (Abnormal circulating erythropoietin concentration)\n", + " \n", + " \n", + " Arcuate vein intimal/medial storage material accumulation\n", + " definition of HP:0033934 (Arcuate vein intimal/medial storage material accumulation)\n", + " \n", + " \n", + " Accumulation of material other than amyloid (glycogen, glycosphingolipid in Fabry's disease, sphingomyelin in Nieman Pick disease, glucosylceramide in Gaucher's disease, gangliosides, mucopolysaccahrides, phytanic acid in Refsum disease) in the inner or middle layer of the arcuate veins of the kidney.\n", + " definition of HP:0033934 (Arcuate vein intimal/medial storage material accumulation)\n", + " \n", + " \n", + " #Multilamellation (onion skinning) within arteriolar intima/media #Renal arteriole intima/media onion skinning\n", + " definition of HP:0033934 (Arcuate vein intimal/medial storage material accumulation)\n", + " \n", + " \n", + " Subungual hyperkeratotic fragments\n", + " definition of HP:0008410 (Subungual hyperkeratotic fragments)\n", + " \n", + " \n", + " Thumb adduction contracture\n", + " definition of HP:0034992 (Thumb adduction contracture)\n", + " \n", + " \n", + " A type of thumb contracture characterized by a chronic reduction in active and passive ability of the metacarpal-phalangeal and/or interphalangeal joints of the thumb to bring from medial side to neutral position, where the neutral position for the thumb is when the distal and proximal segments of the thumb joint are in linear alignment.\n", + " definition of HP:0034992 (Thumb adduction contracture)\n", + " \n", + " \n", + " Elevated circulating butyrylcarnitine concentration\n", + " definition of HP:0033446 (Elevated circulating butyrylcarnitine concentration)\n", + " \n", + " \n", + " Concentration of O-butyrylcarnitine in the blood circulation above the upper limit of normal.\n", + " definition of HP:0033446 (Elevated circulating butyrylcarnitine concentration)\n", + " \n", + " \n", + " #Elevated circulating O-butyrylcarnitine concentration\n", + " definition of HP:0033446 (Elevated circulating butyrylcarnitine concentration)\n", + " \n", + " \n", + " Splenic cyst\n", + " definition of HP:0030423 (Splenic cyst)\n", + " \n", + " \n", + " A closed sac located in the spleen.\n", + " definition of HP:0030423 (Splenic cyst)\n", + " \n", + " \n", + " #Cyst on spleen\n", + " definition of HP:0030423 (Splenic cyst)\n", + " \n", + " \n", + " Abnormality of the forehead\n", + " definition of HP:0000290 (Abnormality of the forehead)\n", + " \n", + " \n", + " An anomaly of the forehead.\n", + " definition of HP:0000290 (Abnormality of the forehead)\n", + " \n", + " \n", + " #Abnormality of the forehead #Abnormality of the frontal region of the face\n", + " definition of HP:0000290 (Abnormality of the forehead)\n", + " \n", + " \n", + " Conjunctival fornix foreshortening\n", + " definition of HP:6001091 (Conjunctival fornix foreshortening)\n", + " \n", + " \n", + " Abnormal reduction in depth of the fornix of the conjunctiva. The fornix is the area where the conjunctiva folds back upon itself, thereby creating a recessed space.\n", + " definition of HP:6001091 (Conjunctival fornix foreshortening)\n", + " \n", + " \n", + " Recurrent\n", + " definition of HP:0031796 (Recurrent)\n", + " \n", + " \n", + " Applies to a sign, symptom or manifestation that occurs multiple times separated by intervals in which the sign, symptom, or manifestation is not present.\n", + " definition of HP:0031796 (Recurrent)\n", + " \n", + " \n", + " #Intermittent\n", + " definition of HP:0031796 (Recurrent)\n", + " \n", + " \n", + " Detrusor sphincter dyssynergia\n", + " definition of HP:0025488 (Detrusor sphincter dyssynergia)\n", + " \n", + " \n", + " A urodynamic anomaly characterized by bladder outlet obstruction from detrusor muscle contraction with concomitant involuntary urethral sphincter activation.\n", + " definition of HP:0025488 (Detrusor sphincter dyssynergia)\n", + " \n", + " \n", + " Fractured epiphysis of second metatarsal bone\n", + " definition of HP:0041194 (Fractured epiphysis of second metatarsal bone)\n", + " \n", + " \n", + " A partial or complete breakage of the epiphysis of second metatarsal bone.\n", + " definition of HP:0041194 (Fractured epiphysis of second metatarsal bone)\n", + " \n", + " \n", + " #bone epiphysis of second metatarsal bone\n", + " definition of HP:0041194 (Fractured epiphysis of second metatarsal bone)\n", + " \n", + " \n", + " Sclerotic ilium\n", + " definition of HP:6000869 (Sclerotic ilium)\n", + " \n", + " \n", + " An elevation in bone density in the ilium. Sclerosis is normally detected on a radiograph as an area of increased opacity.\n", + " definition of HP:6000869 (Sclerotic ilium)\n", + " \n", + " \n", + " #Increased bone density of the ilium #Sclerosis of iliac bone\n", + " definition of HP:6000869 (Sclerotic ilium)\n", + " \n", + " \n", + " Generalized bronze hyperpigmentation\n", + " definition of HP:0007574 (Generalized bronze hyperpigmentation)\n", + " \n", + " \n", + " #Generalised bronze hyperpigmentation\n", + " definition of HP:0007574 (Generalized bronze hyperpigmentation)\n", + " \n", + " \n", + " Abnormal aortic physiology\n", + " definition of HP:0030964 (Abnormal aortic physiology)\n", + " \n", + " \n", + " Enlarged epiphysis of the proximal phalanx of the 4th finger\n", + " definition of HP:0009264 (Enlarged epiphysis of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms.\n", + " definition of HP:0009264 (Enlarged epiphysis of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " #Enlarged end part of the innermost bone of the ring finger\n", + " definition of HP:0009264 (Enlarged epiphysis of the proximal phalanx of the 4th finger)\n", + " \n", + " \n", + " Craniofacial disproportion\n", + " definition of HP:0005461 (Craniofacial disproportion)\n", + " \n", + " \n", + " Protruding tongue\n", + " definition of HP:0010808 (Protruding tongue)\n", + " \n", + " \n", + " Tongue extending beyond the alveolar ridges or teeth at rest.\n", + " definition of HP:0010808 (Protruding tongue)\n", + " \n", + " \n", + " #Lingual prolapse #Lingual prominence #Lingual protrusion #Prolapse of tongue #Prominent tongue #Protruding tongue #Tongue protrusion #Tongue sticking out of mouth\n", + " definition of HP:0010808 (Protruding tongue)\n", + " \n", + " \n", + " Arcuate artery endoarterial lymphocyte hypercellularity\n", + " definition of HP:0033930 (Arcuate artery endoarterial lymphocyte hypercellularity)\n", + " \n", + " \n", + " A type of arcuate artery endoarterial leukocyte hypercellularity due to the presence of increased number of lymphocytes in the lumen of arcuate artery.\n", + " definition of HP:0033930 (Arcuate artery endoarterial lymphocyte hypercellularity)\n", + " \n", + " \n", + " #Endoarterial hypercellularity within arcuate artery consisting of lymphocytes\n", + " definition of HP:0033930 (Arcuate artery endoarterial lymphocyte hypercellularity)\n", + " \n", + " \n", + " 2-4 toe syndactyly\n", + " definition of HP:0010714 (2-4 toe syndactyly)\n", + " \n", + " \n", + " Syndactyly with fusion of toes two to four.\n", + " definition of HP:0010714 (2-4 toe syndactyly)\n", + " \n", + " \n", + " #Syndactyly of toes 2, 3 and 4 #Syndactyly toes 2-4 #Webbed 2nd-4th toes\n", + " definition of HP:0010714 (2-4 toe syndactyly)\n", + " \n", + " \n", + " Intervertebral disk degeneration\n", + " definition of HP:0008419 (Intervertebral disk degeneration)\n", + " \n", + " \n", + " The presence of degenerative changes of intervertebral disk.\n", + " definition of HP:0008419 (Intervertebral disk degeneration)\n", + " \n", + " \n", + " #Degeneration of intervertebral discs #Degeneration of intervertebral disks #Degenerative disc disease #Degenerative disk disease #Degenerative intervertebral disc #Degenerative intervertebral disk\n", + " definition of HP:0008419 (Intervertebral disk degeneration)\n", + " \n", + " \n", + " Short long bone\n", + " definition of HP:0003026 (Short long bone)\n", + " \n", + " \n", + " One or more abnormally short long bone.\n", + " definition of HP:0003026 (Short long bone)\n", + " \n", + " \n", + " #Long bone shortening #Short long bone #Short tubular bones #shortened long tubular bones\n", + " definition of HP:0003026 (Short long bone)\n", + " \n", + " \n", + " Osteosarcoma\n", + " definition of HP:0002669 (Osteosarcoma)\n", + " \n", + " \n", + " A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor.\n", + " definition of HP:0002669 (Osteosarcoma)\n", + " \n", + " \n", + " #Bone cell cancer #Osteogenic sarcoma\n", + " definition of HP:0002669 (Osteosarcoma)\n", + " \n", + " \n", + " Childhood onset sensorineural hearing impairment\n", + " definition of HP:0011474 (Childhood onset sensorineural hearing impairment)\n", + " \n", + " \n", + " Sensorineural hearing impairment with childhood onset.\n", + " definition of HP:0011474 (Childhood onset sensorineural hearing impairment)\n", + " \n", + " \n", + " Absence of the reflex of the tensor tympani muscle\n", + " definition of HP:0040114 (Absence of the reflex of the tensor tympani muscle)\n", + " \n", + " \n", + " Proboscis\n", + " definition of HP:0012806 (Proboscis)\n", + " \n", + " \n", + " A fleshy, tube-like structure usually located in the midline of the face or just to one side of the midline.\n", + " definition of HP:0012806 (Proboscis)\n", + " \n", + " \n", + " Increased circulating dehydroepiandrosterone-sulfate concentration\n", + " definition of HP:0034589 (Increased circulating dehydroepiandrosterone-sulfate concentration)\n", + " \n", + " \n", + " Concentration of dehydroepiandrosterone-sulfate in the blood circulation above the upper limit of normal.\n", + " definition of HP:0034589 (Increased circulating dehydroepiandrosterone-sulfate concentration)\n", + " \n", + " \n", + " Medullary peritubular capillary lumen cholesterol emboli\n", + " definition of HP:0033869 (Medullary peritubular capillary lumen cholesterol emboli)\n", + " \n", + " \n", + " Needle-like or slit-like clefts within the interior space of peritubular capillaries located in the medulla of the kidney. Cholesterol emboli are visualized as clear spaces (cholesterol clefts) where the cholesterol crystals have been dissolved by routine processing. Acute lesions can be accompanied by inflammation and fibrin.\n", + " definition of HP:0033869 (Medullary peritubular capillary lumen cholesterol emboli)\n", + " \n", + " \n", + " #Cholesterol emboli within the medullary peritubular capillary lumen\n", + " definition of HP:0033869 (Medullary peritubular capillary lumen cholesterol emboli)\n", + " \n", + " \n", + " Usual-type tubular atrophy\n", + " definition of HP:0032952 (Usual-type tubular atrophy)\n", + " \n", + " \n", + " A type of renal tubular atrophy in which the tubules show thick tubular basement membranes lined by small cuboidal or flat cells. Generally accompanied by fibrosis.\n", + " definition of HP:0032952 (Usual-type tubular atrophy)\n", + " \n", + " \n", + " #Common-type renal tubular atrophy\n", + " definition of HP:0032952 (Usual-type tubular atrophy)\n", + " \n", + " \n", + " Renal hypoplasia\n", + " definition of HP:0000089 (Renal hypoplasia)\n", + " \n", + " \n", + " Hypoplasia of the kidney.\n", + " definition of HP:0000089 (Renal hypoplasia)\n", + " \n", + " \n", + " #Hypoplastic kidney #Hypoplastic kidneys #Small kidneys #Underdeveloped kidneys\n", + " definition of HP:0000089 (Renal hypoplasia)\n", + " \n", + " \n", + " Decreased activity of NADPH oxidase\n", + " definition of HP:0003206 (Decreased activity of NADPH oxidase)\n", + " \n", + " \n", + " Leiomyosarcoma\n", + " definition of HP:0100243 (Leiomyosarcoma)\n", + " \n", + " \n", + " A smooth muscle connective tissue tumor, which is rare type of cancer that is a malignant neoplasm of smooth muscle. When such a neoplasm is benign, it is called a leiomyoma.\n", + " definition of HP:0100243 (Leiomyosarcoma)\n", + " \n", + " \n", + " Cervical C3/C4 vertebral fusion\n", + " definition of HP:0030281 (Cervical C3/C4 vertebral fusion)\n", + " \n", + " \n", + " Fusion of cervical vertebrae at C3 and C4, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development.\n", + " definition of HP:0030281 (Cervical C3/C4 vertebral fusion)\n", + " \n", + " \n", + " Elevated urine fumaric acid level\n", + " definition of HP:0034648 (Elevated urine fumaric acid level)\n", + " \n", + " \n", + " The concentration of fumaric acid in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:0034648 (Elevated urine fumaric acid level)\n", + " \n", + " \n", + " #Elevated urine fumarate level\n", + " definition of HP:0034648 (Elevated urine fumaric acid level)\n", + " \n", + " \n", + " Hypoplastic fifth toenail\n", + " definition of HP:0011937 (Hypoplastic fifth toenail)\n", + " \n", + " \n", + " Underdeveloped nails of the fifth toes.\n", + " definition of HP:0011937 (Hypoplastic fifth toenail)\n", + " \n", + " \n", + " #Small fifth toenail #Underdeveloped fifth toenail\n", + " definition of HP:0011937 (Hypoplastic fifth toenail)\n", + " \n", + " \n", + " Sclerotic foci of humeral diaphysis\n", + " definition of HP:0003932 (Sclerotic foci of humeral diaphysis)\n", + " \n", + " \n", + " Abnormal muscle succinate dehydrogenase staining\n", + " definition of HP:0034790 (Abnormal muscle succinate dehydrogenase staining)\n", + " \n", + " \n", + " Any deviation from the normal amount of staining of succinate dehydrogenase in skeletal muscle tissue.\n", + " definition of HP:0034790 (Abnormal muscle succinate dehydrogenase staining)\n", + " \n", + " \n", + " Abnormal right hemidiaphragm morphology\n", + " definition of HP:0040047 (Abnormal right hemidiaphragm morphology)\n", + " \n", + " \n", + " #Abnormality of the right hemidiaphragm\n", + " definition of HP:0040047 (Abnormal right hemidiaphragm morphology)\n", + " \n", + " \n", + " Anti-phosphatidyl inositol antibody positivity\n", + " definition of HP:0034099 (Anti-phosphatidyl inositol antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against phosphatidyl inositol.\n", + " definition of HP:0034099 (Anti-phosphatidyl inositol antibody positivity)\n", + " \n", + " \n", + " Bracket epiphysis of the distal phalanx of the 4th toe\n", + " definition of HP:0100170 (Bracket epiphysis of the distal phalanx of the 4th toe)\n", + " \n", + " \n", + " #Bracket shaped end part of the outermost bone of the 4th toe\n", + " definition of HP:0100170 (Bracket epiphysis of the distal phalanx of the 4th toe)\n", + " \n", + " \n", + " Bile duct polyp\n", + " definition of HP:0034352 (Bile duct polyp)\n", + " \n", + " \n", + " An elevated growth from the the mucosa of the bile duct.\n", + " definition of HP:0034352 (Bile duct polyp)\n", + " \n", + " \n", + " Pappenheimer bodies\n", + " definition of HP:0020081 (Pappenheimer bodies)\n", + " \n", + " \n", + " A type of erythrocyte inclusion characterized by basophilic stippling of erythrocytes, that is, by numerous very small coarse or fine blue granules within the cytoplasm with the additional stipulation that the stippled particles are due to iron granules (demonstrable by the Prussian blue stain).\n", + " definition of HP:0020081 (Pappenheimer bodies)\n", + " \n", + " \n", + " Solitary angiokeratoma\n", + " definition of HP:0034408 (Solitary angiokeratoma)\n", + " \n", + " \n", + " A dark, keratotic papule about 2-10 mm in diameter, usually occurring on the lower extremeities. Usually the lesions begin as bright, soft, and nonkeratotic paules which grow larger and change to a firm, blue to black and keratotic stage.\n", + " definition of HP:0034408 (Solitary angiokeratoma)\n", + " \n", + " \n", + " Abnormal nail shape\n", + " definition of HP:0025755 (Abnormal nail shape)\n", + " \n", + " \n", + " An abnormality affecting the outline (shape) or contour of the nail.\n", + " definition of HP:0025755 (Abnormal nail shape)\n", + " \n", + " \n", + " Thumb hypoplasia grade 1\n", + " definition of HP:6000938 (Thumb hypoplasia grade 1)\n", + " \n", + " \n", + " Minor hypoplasia (developmental undergrowth) of the thumb, whereby all musculoskeletal and neurovascular components of the digit are present, just small in size (Blauth classification).\n", + " definition of HP:6000938 (Thumb hypoplasia grade 1)\n", + " \n", + " \n", + " Abnormal vitreous humor morphology\n", + " definition of HP:0004327 (Abnormal vitreous humor morphology)\n", + " \n", + " \n", + " Any structural anomaly of the vitreous body.\n", + " definition of HP:0004327 (Abnormal vitreous humor morphology)\n", + " \n", + " \n", + " #Abnormal vitreous humour morphology\n", + " definition of HP:0004327 (Abnormal vitreous humor morphology)\n", + " \n", + " \n", + " Abnormality of bone mineral density\n", + " definition of HP:0004348 (Abnormality of bone mineral density)\n", + " \n", + " \n", + " This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ.\n", + " definition of HP:0004348 (Abnormality of bone mineral density)\n", + " \n", + " \n", + " #Abnormality of bone mineralisation and ossification\n", + " definition of HP:0004348 (Abnormality of bone mineral density)\n", + " \n", + " \n", + " Asymmetrical insertion of the midpiece into the head\n", + " definition of HP:0034958 (Asymmetrical insertion of the midpiece into the head)\n", + " \n", + " \n", + " Insertion of the neck and midpiece into the head of a spermatozoon on an axis that diverges from the midline axis of the spermatozoon head. This term applies if the proportion of spermatozoa with this defect is above the upper limit of normal.\n", + " definition of HP:0034958 (Asymmetrical insertion of the midpiece into the head)\n", + " \n", + " \n", + " #Asymmetrical insertion of sperm neck\n", + " definition of HP:0034958 (Asymmetrical insertion of the midpiece into the head)\n", + " \n", + " \n", + " Elevated urine 4,5-dihydroxyhexanoic acid level\n", + " definition of HP:6001003 (Elevated urine 4,5-dihydroxyhexanoic acid level)\n", + " \n", + " \n", + " The amount of 4,5-dihydroxyhexanoic acid in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6001003 (Elevated urine 4,5-dihydroxyhexanoic acid level)\n", + " \n", + " \n", + " Abnormal erythrocyte physiology\n", + " definition of HP:0020054 (Abnormal erythrocyte physiology)\n", + " \n", + " \n", + " Any functional abnormality of erythrocytes (red-blood cells).\n", + " definition of HP:0020054 (Abnormal erythrocyte physiology)\n", + " \n", + " \n", + " Atrophy of the dentate nucleus\n", + " definition of HP:0007047 (Atrophy of the dentate nucleus)\n", + " \n", + " \n", + " Partial or complete wasting (loss) of dentate nucleus.\n", + " definition of HP:0007047 (Atrophy of the dentate nucleus)\n", + " \n", + " \n", + " CD20 expression\n", + " definition of HP:0430102 (CD20 expression)\n", + " \n", + " \n", + " Detection of the presence of CD20 on the cell(s) of interest with the use of anti-CD20 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry).\n", + " definition of HP:0430102 (CD20 expression)\n", + " \n", + " \n", + " Foot dorsiflexor weakness\n", + " definition of HP:0009027 (Foot dorsiflexor weakness)\n", + " \n", + " \n", + " Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles.\n", + " definition of HP:0009027 (Foot dorsiflexor weakness)\n", + " \n", + " \n", + " #Foot drop #Foot extensor weakness #Footdrop #Inability to heel walk #Inability to walk on heels\n", + " definition of HP:0009027 (Foot dorsiflexor weakness)\n", + " \n", + " \n", + " Increased large lymphocytes in lymph node\n", + " definition of HP:0020276 (Increased large lymphocytes in lymph node)\n", + " \n", + " \n", + " An increased number of large lymphocytes within a lymph node compared to a normal non-reactive lymph node.\n", + " definition of HP:0020276 (Increased large lymphocytes in lymph node)\n", + " \n", + " \n", + " Elevated amniotic fluid alpha-fetoprotein\n", + " definition of HP:0004639 (Elevated amniotic fluid alpha-fetoprotein)\n", + " \n", + " \n", + " An elevation of alpha-feto protein measured in the amniotic fluid.\n", + " definition of HP:0004639 (Elevated amniotic fluid alpha-fetoprotein)\n", + " \n", + " \n", + " #Elevated amniotic fluid alpha fetal protein #Elevated amniotic fluid alpha foetal protein #Elevated amniotic fluid alpha-1-fetoprotein #Elevated amniotic fluid alpha-fetoglobulin\n", + " definition of HP:0004639 (Elevated amniotic fluid alpha-fetoprotein)\n", + " \n", + " \n", + " Presenile cataracts\n", + " definition of HP:0007819 (Presenile cataracts)\n", + " \n", + " \n", + " Presenile cataract is a kind of cataract that occurs in early adulthood, that is, at an age that is younger than usual.\n", + " definition of HP:0007819 (Presenile cataracts)\n", + " \n", + " \n", + " #Presenile cataract\n", + " definition of HP:0007819 (Presenile cataracts)\n", + " \n", + " \n", + " Hematemesis\n", + " definition of HP:0002248 (Hematemesis)\n", + " \n", + " \n", + " The vomiting of blood.\n", + " definition of HP:0002248 (Hematemesis)\n", + " \n", + " \n", + " #Vomiting blood\n", + " definition of HP:0002248 (Hematemesis)\n", + " \n", + " \n", + " Increased CSF L-alloisoleucine concentration\n", + " definition of HP:0034462 (Increased CSF L-alloisoleucine concentration)\n", + " \n", + " \n", + " An abnormally increased concentration of L-alloisoleucine in the cerebrospinal fluid (CSF).\n", + " definition of HP:0034462 (Increased CSF L-alloisoleucine concentration)\n", + " \n", + " \n", + " #L-alloisoleucine high in CSF\n", + " definition of HP:0034462 (Increased CSF L-alloisoleucine concentration)\n", + " \n", + " \n", + " Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis\n", + " definition of HP:0011652 (Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis)\n", + " \n", + " \n", + " A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.\n", + " definition of HP:0011652 (Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis)\n", + " \n", + " \n", + " #DORV with doubly committed VSD #Double outlet right ventricle, doubly committed ventricular septal defect\n", + " definition of HP:0011652 (Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis)\n", + " \n", + " \n", + " Wrist hypermobility\n", + " definition of HP:0005072 (Wrist hypermobility)\n", + " \n", + " \n", + " The ability of the wrist joints to move beyond their normal range of motion.\n", + " definition of HP:0005072 (Wrist hypermobility)\n", + " \n", + " \n", + " #Hyperextensibility at wrists #Increased laxity of wrists #Increased wrist mobility\n", + " definition of HP:0005072 (Wrist hypermobility)\n", + " \n", + " \n", + " Enlarged epiphysis of the distal phalanx of the 2nd finger\n", + " definition of HP:0009505 (Enlarged epiphysis of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms.\n", + " definition of HP:0009505 (Enlarged epiphysis of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Enlarged end part of the outermost bone of the index finger\n", + " definition of HP:0009505 (Enlarged epiphysis of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Abnormal palatine bone morphology\n", + " definition of HP:0430003 (Abnormal palatine bone morphology)\n", + " \n", + " \n", + " An abnormality of the palatine bone.\n", + " definition of HP:0430003 (Abnormal palatine bone morphology)\n", + " \n", + " \n", + " #Abnormality of the palatine bone\n", + " definition of HP:0430003 (Abnormal palatine bone morphology)\n", + " \n", + " \n", + " Increased circulating brain natriuretic peptide concentration\n", + " definition of HP:0033534 (Increased circulating brain natriuretic peptide concentration)\n", + " \n", + " \n", + " An increased concentration of brain natriuretic peptide in the blood circulation.\n", + " definition of HP:0033534 (Increased circulating brain natriuretic peptide concentration)\n", + " \n", + " \n", + " #Elevated circulating BNP concentration #Increased B-type natriuretic peptide #Increased ventricular natriuretic peptide\n", + " definition of HP:0033534 (Increased circulating brain natriuretic peptide concentration)\n", + " \n", + " \n", + " Focal autonomic seizure with lacrimation\n", + " definition of HP:0032771 (Focal autonomic seizure with lacrimation)\n", + " \n", + " \n", + " A type of focal autonomic seizure characterized by lacrimation as the initial semiological feature.\n", + " definition of HP:0032771 (Focal autonomic seizure with lacrimation)\n", + " \n", + " \n", + " Reduced antral follicle count\n", + " definition of HP:0033085 (Reduced antral follicle count)\n", + " \n", + " \n", + " A count of antral follicles that is lower than normal for age.\n", + " definition of HP:0033085 (Reduced antral follicle count)\n", + " \n", + " \n", + " Abnormal facial expression\n", + " definition of HP:0005346 (Abnormal facial expression)\n", + " \n", + " \n", + " #Abnormal facial expression\n", + " definition of HP:0005346 (Abnormal facial expression)\n", + " \n", + " \n", + " Toe syndactyly\n", + " definition of HP:0001770 (Toe syndactyly)\n", + " \n", + " \n", + " Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as \\"bony\\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as \\"Symphalangism\\".\n", + " definition of HP:0001770 (Toe syndactyly)\n", + " \n", + " \n", + " #Foot syndactyly #Fused toes #Syndactyly of feet #Syndactyly of toes #Webbed toes\n", + " definition of HP:0001770 (Toe syndactyly)\n", + " \n", + " \n", + " Elevated transferrin saturation\n", + " definition of HP:0012463 (Elevated transferrin saturation)\n", + " \n", + " \n", + " An above normal level of saturation of serum transferrin with iron.\n", + " definition of HP:0012463 (Elevated transferrin saturation)\n", + " \n", + " \n", + " Small epiphysis of the distal phalanx of the 4th toe\n", + " definition of HP:0100177 (Small epiphysis of the distal phalanx of the 4th toe)\n", + " \n", + " \n", + " #Small end part of the outermost bone of the 4th toe\n", + " definition of HP:0100177 (Small epiphysis of the distal phalanx of the 4th toe)\n", + " \n", + " \n", + " Increased urinary 11-deoxycortisol level\n", + " definition of HP:0032329 (Increased urinary 11-deoxycortisol level)\n", + " \n", + " \n", + " An abnormally elevated concentration of 11-deoxycortisol in the urine.\n", + " definition of HP:0032329 (Increased urinary 11-deoxycortisol level)\n", + " \n", + " \n", + " Abnormal cellular physiology\n", + " definition of HP:0011017 (Abnormal cellular physiology)\n", + " \n", + " \n", + " An abnormality in a cellular process.\n", + " definition of HP:0011017 (Abnormal cellular physiology)\n", + " \n", + " \n", + " #Abnormality of cell physiology\n", + " definition of HP:0011017 (Abnormal cellular physiology)\n", + " \n", + " \n", + " Increased circulating adrenic acid concentration\n", + " definition of HP:0020158 (Increased circulating adrenic acid concentration)\n", + " \n", + " \n", + " An increased concentration of adrenic acid (also known as cis-7,10,13,16-Docosatetraenoic acid) in the blood circulation.\n", + " definition of HP:0020158 (Increased circulating adrenic acid concentration)\n", + " \n", + " \n", + " #Increased circulating docosatetraenoate level\n", + " definition of HP:0020158 (Increased circulating adrenic acid concentration)\n", + " \n", + " \n", + " Diffuse palmoplantar hyperkeratosis\n", + " definition of HP:0007447 (Diffuse palmoplantar hyperkeratosis)\n", + " \n", + " \n", + " Diffuse abnormal thickening of the skin on the palms and soles.\n", + " definition of HP:0007447 (Diffuse palmoplantar hyperkeratosis)\n", + " \n", + " \n", + " #Diffuse palmoplantar keratoderma #Hyperkeratosis, diffuse palmoplantar\n", + " definition of HP:0007447 (Diffuse palmoplantar hyperkeratosis)\n", + " \n", + " \n", + " Bleeding with minor or no trauma\n", + " definition of HP:0011889 (Bleeding with minor or no trauma)\n", + " \n", + " \n", + " Significant bleeding or hemorrhage without significant precipitating factor.\n", + " definition of HP:0011889 (Bleeding with minor or no trauma)\n", + " \n", + " \n", + " #Bleeding with minor or no trauma #Easy bleeding\n", + " definition of HP:0011889 (Bleeding with minor or no trauma)\n", + " \n", + " \n", + " Abnormality of the digestive system\n", + " definition of HP:0025031 (Abnormality of the digestive system)\n", + " \n", + " \n", + " Lymph node hypoplasia\n", + " definition of HP:0002732 (Lymph node hypoplasia)\n", + " \n", + " \n", + " Underdevelopment of the lymph nodes.\n", + " definition of HP:0002732 (Lymph node hypoplasia)\n", + " \n", + " \n", + " Abnormal buccal mucosa cell morphology\n", + " definition of HP:0031476 (Abnormal buccal mucosa cell morphology)\n", + " \n", + " \n", + " Any structural anomaly of the cells of the mucosa of the oral cavity in the region of the cheek (buccal mucosa cells).\n", + " definition of HP:0031476 (Abnormal buccal mucosa cell morphology)\n", + " \n", + " \n", + " Impaired cortisol response to insulin stimulation test\n", + " definition of HP:0031076 (Impaired cortisol response to insulin stimulation test)\n", + " \n", + " \n", + " Failure of cortisol levels to respond adequately (by increasing) to the insulin tolerance test (ITT).\n", + " definition of HP:0031076 (Impaired cortisol response to insulin stimulation test)\n", + " \n", + " \n", + " Otitis media with effusion\n", + " definition of HP:0031353 (Otitis media with effusion)\n", + " \n", + " \n", + " Otitis media characterized by thick or sticky fluid behind the tympanic membrane.\n", + " definition of HP:0031353 (Otitis media with effusion)\n", + " \n", + " \n", + " #Fluid behind eardrum\n", + " definition of HP:0031353 (Otitis media with effusion)\n", + " \n", + " \n", + " Midline skin dimples over anterior/posterior fontanelles\n", + " definition of HP:0005498 (Midline skin dimples over anterior/posterior fontanelles)\n", + " \n", + " \n", + " Talipes equinovalgus\n", + " definition of HP:0001772 (Talipes equinovalgus)\n", + " \n", + " \n", + " A deformity of foot and ankle in which the foot is bent down and outwards.\n", + " definition of HP:0001772 (Talipes equinovalgus)\n", + " \n", + " \n", + " Malignant rhabdoid tumor of muscle\n", + " definition of HP:0034562 (Malignant rhabdoid tumor of muscle)\n", + " \n", + " \n", + " A malginant rhabdoid tumor (MRT) originating in muscle tissue.\n", + " definition of HP:0034562 (Malignant rhabdoid tumor of muscle)\n", + " \n", + " \n", + " Abnormality of the vitamin B3 metabolism\n", + " definition of HP:0100496 (Abnormality of the vitamin B3 metabolism)\n", + " \n", + " \n", + " #Abnormality of the vitamin B3 metabolism\n", + " definition of HP:0100496 (Abnormality of the vitamin B3 metabolism)\n", + " \n", + " \n", + " Thoracic hypertrichosis\n", + " definition of HP:0011914 (Thoracic hypertrichosis)\n", + " \n", + " \n", + " Excessive, increased hair growth located in the thoracic region.\n", + " definition of HP:0011914 (Thoracic hypertrichosis)\n", + " \n", + " \n", + " Coma\n", + " definition of HP:0001259 (Coma)\n", + " \n", + " \n", + " The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli.\n", + " definition of HP:0001259 (Coma)\n", + " \n", + " \n", + " #Coma #Persistent vegetative state #Stupor #Unconsciousness\n", + " definition of HP:0001259 (Coma)\n", + " \n", + " \n", + " Cochlear malformation\n", + " definition of HP:0008554 (Cochlear malformation)\n", + " \n", + " \n", + " The presence of a malformed cochlea.\n", + " definition of HP:0008554 (Cochlear malformation)\n", + " \n", + " \n", + " Precocious puberty with Sertoli cell tumor\n", + " definition of HP:0008204 (Precocious puberty with Sertoli cell tumor)\n", + " \n", + " \n", + " #Precocious puberty with Sertoli cell tumour\n", + " definition of HP:0008204 (Precocious puberty with Sertoli cell tumor)\n", + " \n", + " \n", + " Cortical radial artery medial hypertrophy\n", + " definition of HP:0033911 (Cortical radial artery medial hypertrophy)\n", + " \n", + " \n", + " Increased thickness of the middle layer of the cortical radial arteries (also known as the interlobular arteries) of the kidney.\n", + " definition of HP:0033911 (Cortical radial artery medial hypertrophy)\n", + " \n", + " \n", + " #Interlobular artery medial hypertrophy #Medial hypertrophy within interlobular arteries\n", + " definition of HP:0033911 (Cortical radial artery medial hypertrophy)\n", + " \n", + " \n", + " Abnormal axonemal organization of respiratory motile cilia\n", + " definition of HP:0012258 (Abnormal axonemal organization of respiratory motile cilia)\n", + " \n", + " \n", + " Abnormal arrangement of the structures of the axoneme, which is the cytoskeletal structure that forms the inner core of the motile cilium and displays a canonical 9+2 microtubular pattern of motile cilia studded with dynein arms.\n", + " definition of HP:0012258 (Abnormal axonemal organization of respiratory motile cilia)\n", + " \n", + " \n", + " #Abnormal axonemal organisation of respiratory motile cilia\n", + " definition of HP:0012258 (Abnormal axonemal organization of respiratory motile cilia)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the fallopian tube\n", + " definition of HP:0008655 (Aplasia/Hypoplasia of the fallopian tube)\n", + " \n", + " \n", + " Aplasia or developmental hypoplasia of the fallopian tube.\n", + " definition of HP:0008655 (Aplasia/Hypoplasia of the fallopian tube)\n", + " \n", + " \n", + " #Absent/small fallopian tube #Absent/underdeveloped fallopian tube\n", + " definition of HP:0008655 (Aplasia/Hypoplasia of the fallopian tube)\n", + " \n", + " \n", + " Reduced granulocyte surface marker level\n", + " definition of HP:0031553 (Reduced granulocyte surface marker level)\n", + " \n", + " \n", + " Reduced level of a protein that is normally present on the granulocyte surface as assessed by flow cytometry.\n", + " definition of HP:0031553 (Reduced granulocyte surface marker level)\n", + " \n", + " \n", + " Increased radioactive iodine uptake\n", + " definition of HP:0031220 (Increased radioactive iodine uptake)\n", + " \n", + " \n", + " An elevated amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker.\n", + " definition of HP:0031220 (Increased radioactive iodine uptake)\n", + " \n", + " \n", + " Anti-von Willebrand factor antibody positivity\n", + " definition of HP:6000676 (Anti-von Willebrand factor antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies in the serum that react to von Willebrand factor (VWF).\n", + " definition of HP:6000676 (Anti-von Willebrand factor antibody positivity)\n", + " \n", + " \n", + " Abnormally low T cell receptor excision circle level\n", + " definition of HP:0031545 (Abnormally low T cell receptor excision circle level)\n", + " \n", + " \n", + " Reduced level of T cell receptor excision circle (TRECs) as measured by the TREC assay. Late in maturation, 70% of thymocytes that will ultimately express alpha/beta-T cell receptors form a circular DNA TREC from the excised TCRdelta gene that lies within the TCRalpha genetic locus. The circles are stable but do not increase following cell division and, therefore, become diluted as T cells proliferate. A quantitative polymerase chain reaction (PCR) reaction across the joint of the circular DNA provides the TREC copy number, a marker of newly-formed, antigenically-naïve thymic emigrant T cells.\n", + " definition of HP:0031545 (Abnormally low T cell receptor excision circle level)\n", + " \n", + " \n", + " Perifollicular fibroma\n", + " definition of HP:0032225 (Perifollicular fibroma)\n", + " \n", + " \n", + " Perifollicular fibroma is a rare cutaneous hamartoma that shows differentiation in the connective tissue sheath of hair follicles. It can occur as a solitary papule or as multiple lesions. Histologically, the lesion consists of a concentric arrangement of cellular fibrous tissue around a normal hair follicle.\n", + " definition of HP:0032225 (Perifollicular fibroma)\n", + " \n", + " \n", + " Exacerbated by phenytoin exposure\n", + " definition of HP:4000132 (Exacerbated by phenytoin exposure)\n", + " \n", + " \n", + " Applied to a sign or symptom that is worsened by administration of phenytoin.\n", + " definition of HP:4000132 (Exacerbated by phenytoin exposure)\n", + " \n", + " \n", + " #Phenytoin produces worsening\n", + " definition of HP:4000132 (Exacerbated by phenytoin exposure)\n", + " \n", + " \n", + " Double-layered patella\n", + " definition of HP:0031174 (Double-layered patella)\n", + " \n", + " \n", + " An anomaly of the patella characterized by two layers visible on lateral knee X-ray such that one layer is in front of the other in the sagittal orientation (See Figure 2A and 3B of PMID:12966518). This finding persists into adulthood.\n", + " definition of HP:0031174 (Double-layered patella)\n", + " \n", + " \n", + " Disseminated histoplasmosis\n", + " definition of HP:0032257 (Disseminated histoplasmosis)\n", + " \n", + " \n", + " Histoplasmosis infection involving multiple sites of the body. Disseminated histoplasmosis can involve various organs, including reticuloendothelial organs, gastrointestinal tract, adrenal glands, central nervous system, endovascular structures, kidney, and skin. It typically presents with systemic symptoms like fever, generalized fatigue, night sweats, weight loss, and the symptoms related to the specific organ involved. Severe disseminated disease can manifest as septic shock, multi organ failure, and ARDS.\n", + " definition of HP:0032257 (Disseminated histoplasmosis)\n", + " \n", + " \n", + " Displacement of the extensor tendon in metacarpophalangeal joint\n", + " definition of HP:6000788 (Displacement of the extensor tendon in metacarpophalangeal joint)\n", + " \n", + " \n", + " Dislocation of the extensor tendons from their central position on the metacarpal heads can be traumatic, congenital, spontaneous, or degenerative.\n", + " definition of HP:6000788 (Displacement of the extensor tendon in metacarpophalangeal joint)\n", + " \n", + " \n", + " Irregular epiphyses of the 4th finger\n", + " definition of HP:0009398 (Irregular epiphyses of the 4th finger)\n", + " \n", + " \n", + " Irregular radiographic opacity of the epiphyses of the 4th finger.\n", + " definition of HP:0009398 (Irregular epiphyses of the 4th finger)\n", + " \n", + " \n", + " #Irregular end part of the ring finger bones\n", + " definition of HP:0009398 (Irregular epiphyses of the 4th finger)\n", + " \n", + " \n", + " Right unilambdoid synostosis\n", + " definition of HP:0011322 (Right unilambdoid synostosis)\n", + " \n", + " \n", + " Premature synostosis of only the right lambdoid suture.\n", + " definition of HP:0011322 (Right unilambdoid synostosis)\n", + " \n", + " \n", + " Perifollicular erythema\n", + " definition of HP:0031286 (Perifollicular erythema)\n", + " \n", + " \n", + " Redness surrounding the hair follicles.\n", + " definition of HP:0031286 (Perifollicular erythema)\n", + " \n", + " \n", + " Abnormality of the pancreatic islet cells\n", + " definition of HP:0006476 (Abnormality of the pancreatic islet cells)\n", + " \n", + " \n", + " An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin.\n", + " definition of HP:0006476 (Abnormality of the pancreatic islet cells)\n", + " \n", + " \n", + " Intralamellar aortic medial fibrosis\n", + " definition of HP:0032090 (Intralamellar aortic medial fibrosis)\n", + " \n", + " \n", + " A type of aortic medial fibrosis in which the increase in collagen does not significantly alter the arrangement of the lamellar units.\n", + " definition of HP:0032090 (Intralamellar aortic medial fibrosis)\n", + " \n", + " \n", + " Multiparity\n", + " definition of HP:6000054 (Multiparity)\n", + " \n", + " \n", + " History of multiple previous births.\n", + " definition of HP:6000054 (Multiparity)\n", + " \n", + " \n", + " Abnormal thrombosis\n", + " definition of HP:0001977 (Abnormal thrombosis)\n", + " \n", + " \n", + " Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis).\n", + " definition of HP:0001977 (Abnormal thrombosis)\n", + " \n", + " \n", + " #Abnormal blood clot #Abnormal blood clotting\n", + " definition of HP:0001977 (Abnormal thrombosis)\n", + " \n", + " \n", + " Radial head subluxation\n", + " definition of HP:0003048 (Radial head subluxation)\n", + " \n", + " \n", + " Partial dislocation of the head of the radius.\n", + " definition of HP:0003048 (Radial head subluxation)\n", + " \n", + " \n", + " #Radial subluxation #Radial-head subluxation\n", + " definition of HP:0003048 (Radial head subluxation)\n", + " \n", + " \n", + " Hyperglutamatemia\n", + " definition of HP:0500149 (Hyperglutamatemia)\n", + " \n", + " \n", + " Concentration of glutamate in the blood circulation above the upper limit of normal.\n", + " definition of HP:0500149 (Hyperglutamatemia)\n", + " \n", + " \n", + " #High blood glutamate levels #Increased blood glutamate concentration #Increased level of L-glutamic acid in blood\n", + " definition of HP:0500149 (Hyperglutamatemia)\n", + " \n", + " \n", + " Fragile nails\n", + " definition of HP:0001808 (Fragile nails)\n", + " \n", + " \n", + " Nails that easily break.\n", + " definition of HP:0001808 (Fragile nails)\n", + " \n", + " \n", + " #Brittle nails\n", + " definition of HP:0001808 (Fragile nails)\n", + " \n", + " \n", + " Patent urachus\n", + " definition of HP:0010479 (Patent urachus)\n", + " \n", + " \n", + " Persistence of the urachal canal resulting in a canal between the bladder and the umbilicus.\n", + " definition of HP:0010479 (Patent urachus)\n", + " \n", + " \n", + " #Persistent urachus\n", + " definition of HP:0010479 (Patent urachus)\n", + " \n", + " \n", + " Small epiphysis of the distal phalanx of the hallux\n", + " definition of HP:0010146 (Small epiphysis of the distal phalanx of the hallux)\n", + " \n", + " \n", + " #Small end part of the outermost bone of the big toe\n", + " definition of HP:0010146 (Small epiphysis of the distal phalanx of the hallux)\n", + " \n", + " \n", + " Anetoderma\n", + " definition of HP:0032026 (Anetoderma)\n", + " \n", + " \n", + " Circumscribed area of flaccid skin due to the loss of elastic tissue in the dermis.\n", + " definition of HP:0032026 (Anetoderma)\n", + " \n", + " \n", + " Peripheral opacification of the cornea\n", + " definition of HP:0008011 (Peripheral opacification of the cornea)\n", + " \n", + " \n", + " Reduced transparency of the peripheral region of the cornea.\n", + " definition of HP:0008011 (Peripheral opacification of the cornea)\n", + " \n", + " \n", + " #Peripheral corneal opacity\n", + " definition of HP:0008011 (Peripheral opacification of the cornea)\n", + " \n", + " \n", + " Swelling of inguinal region\n", + " definition of HP:6000913 (Swelling of inguinal region)\n", + " \n", + " \n", + " Bulging in the area of the lower abdomen, just above the thigh and near the groin.\n", + " definition of HP:6000913 (Swelling of inguinal region)\n", + " \n", + " \n", + " Blindness\n", + " definition of HP:0000618 (Blindness)\n", + " \n", + " \n", + " Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.\n", + " definition of HP:0000618 (Blindness)\n", + " \n", + " \n", + " #Blindness #Total vision loss\n", + " definition of HP:0000618 (Blindness)\n", + " \n", + " \n", + " Abnormality of the genital system\n", + " definition of HP:0000078 (Abnormality of the genital system)\n", + " \n", + " \n", + " An abnormality of the genital system.\n", + " definition of HP:0000078 (Abnormality of the genital system)\n", + " \n", + " \n", + " #Genital abnormalities #Genital abnormality #Genital anomalies #Genital defects\n", + " definition of HP:0000078 (Abnormality of the genital system)\n", + " \n", + " \n", + " Abnormal pia mater\n", + " definition of HP:0100701 (Abnormal pia mater)\n", + " \n", + " \n", + " An abnormality of the pia mater.\n", + " definition of HP:0100701 (Abnormal pia mater)\n", + " \n", + " \n", + " #Abnormality of the pia mater\n", + " definition of HP:0100701 (Abnormal pia mater)\n", + " \n", + " \n", + " Bifid thoracic vertebrae\n", + " definition of HP:0008437 (Bifid thoracic vertebrae)\n", + " \n", + " \n", + " Elevated hypoxanthine-guanine phosphoribosyltransferase level\n", + " definition of HP:0031822 (Elevated hypoxanthine-guanine phosphoribosyltransferase level)\n", + " \n", + " \n", + " Abnormally increased level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate.\n", + " definition of HP:0031822 (Elevated hypoxanthine-guanine phosphoribosyltransferase level)\n", + " \n", + " \n", + " #Elevated 6-hydroxypurine phosphoribosyltransferase level #Elevated 6-mercaptopurine phosphoribosyltransferase level #Elevated GMP pyrophosphorylase level\n", + " definition of HP:0031822 (Elevated hypoxanthine-guanine phosphoribosyltransferase level)\n", + " \n", + " \n", + " Pulmonary valve atresia\n", + " definition of HP:0010882 (Pulmonary valve atresia)\n", + " \n", + " \n", + " A congenital disorder of the pulmonary valve in which the orifice of the valve fails to develop.\n", + " definition of HP:0010882 (Pulmonary valve atresia)\n", + " \n", + " \n", + " Reduced erythrocyte free porphyrin concentration\n", + " definition of HP:0034869 (Reduced erythrocyte free porphyrin concentration)\n", + " \n", + " \n", + " Concentration of porphyrin in erythrocytes below the lower limit of normal.\n", + " definition of HP:0034869 (Reduced erythrocyte free porphyrin concentration)\n", + " \n", + " \n", + " Congenitally corrected transposition of the great arteries with ventricular septal defect\n", + " definition of HP:0011605 (Congenitally corrected transposition of the great arteries with ventricular septal defect)\n", + " \n", + " \n", + " A congenitally corrected transposition of the great arteries with a ventricular septal defect: a hole between the two bottom chambers (ventricles) of the heart. The ventricular septal defect is centered around the most superior aspect of the ventricular septum.\n", + " definition of HP:0011605 (Congenitally corrected transposition of the great arteries with ventricular septal defect)\n", + " \n", + " \n", + " #CCTGA #ccTGA\n", + " definition of HP:0011605 (Congenitally corrected transposition of the great arteries with ventricular septal defect)\n", + " \n", + " \n", + " Polysplenia\n", + " definition of HP:0001748 (Polysplenia)\n", + " \n", + " \n", + " Polysplenia is a congenital disease manifested by multiple small accessory spleens.\n", + " definition of HP:0001748 (Polysplenia)\n", + " \n", + " \n", + " #Accessory spleens #Multiple accessory spleens #Multiple small spleens\n", + " definition of HP:0001748 (Polysplenia)\n", + " \n", + " \n", + " Forearm supination contracture\n", + " definition of HP:0034394 (Forearm supination contracture)\n", + " \n", + " \n", + " A contracture that limits the ability of the forearm to stabilize the hand in pronation (pronation refers to a rotation of the forearm that causes the palm and forearm to face downwards), meaning that the palm is fixed in a upward orientation. Restriction of supination/pronation can occur at the elbow (radial-humeral joint), at the wrist (radial-ulnar joint), and anywhere in between.\n", + " definition of HP:0034394 (Forearm supination contracture)\n", + " \n", + " \n", + " #Supination contracture of the forearm\n", + " definition of HP:0034394 (Forearm supination contracture)\n", + " \n", + " \n", + " Bracket epiphyses of the distal phalanges of the hand\n", + " definition of HP:0010247 (Bracket epiphyses of the distal phalanges of the hand)\n", + " \n", + " \n", + " An abnormality of the distal phalanges of the hand in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side.\n", + " definition of HP:0010247 (Bracket epiphyses of the distal phalanges of the hand)\n", + " \n", + " \n", + " #Bracket shaped end part of the outermost hand bones\n", + " definition of HP:0010247 (Bracket epiphyses of the distal phalanges of the hand)\n", + " \n", + " \n", + " Anti-FGFR3 antibody positivity\n", + " definition of HP:5000008 (Anti-FGFR3 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against FGFR3.\n", + " definition of HP:5000008 (Anti-FGFR3 antibody positivity)\n", + " \n", + " \n", + " #Anti-fibroblast growth factor receptor 3 antibody\n", + " definition of HP:5000008 (Anti-FGFR3 antibody positivity)\n", + " \n", + " \n", + " Abnormal circulating progesterone level\n", + " definition of HP:0031212 (Abnormal circulating progesterone level)\n", + " \n", + " \n", + " Failure to thrive\n", + " definition of HP:0001508 (Failure to thrive)\n", + " \n", + " \n", + " Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.\n", + " definition of HP:0001508 (Failure to thrive)\n", + " \n", + " \n", + " #Faltering weight #Postnatal failure to thrive #Weight faltering\n", + " definition of HP:0001508 (Failure to thrive)\n", + " \n", + " \n", + " Abnormal red blood cell count\n", + " definition of HP:0020058 (Abnormal red blood cell count)\n", + " \n", + " \n", + " Any deviation from the normal number of red blood cells per volume in the circulation.\n", + " definition of HP:0020058 (Abnormal red blood cell count)\n", + " \n", + " \n", + " #Abnormal RBC count\n", + " definition of HP:0020058 (Abnormal red blood cell count)\n", + " \n", + " \n", + " Abnormal femoral head morphology\n", + " definition of HP:0003368 (Abnormal femoral head morphology)\n", + " \n", + " \n", + " An abnormality of the femoral head.\n", + " definition of HP:0003368 (Abnormal femoral head morphology)\n", + " \n", + " \n", + " #Abnormal head of thigh bone #Abnormality of the femoral head\n", + " definition of HP:0003368 (Abnormal femoral head morphology)\n", + " \n", + " \n", + " Increased circulating interleukin 15 concentration\n", + " definition of HP:6000439 (Increased circulating interleukin 15 concentration)\n", + " \n", + " \n", + " The concentration of interleukin 15 (IL-15) in the blood circulation is above the upper limit of normal.\n", + " definition of HP:6000439 (Increased circulating interleukin 15 concentration)\n", + " \n", + " \n", + " #IL-15 high in blood\n", + " definition of HP:6000439 (Increased circulating interleukin 15 concentration)\n", + " \n", + " \n", + " Cone-shaped epiphyses of the toes\n", + " definition of HP:0010164 (Cone-shaped epiphyses of the toes)\n", + " \n", + " \n", + " #Cone-shaped end part of the toe bones\n", + " definition of HP:0010164 (Cone-shaped epiphyses of the toes)\n", + " \n", + " \n", + " Generalized arterial calcification\n", + " definition of HP:0004940 (Generalized arterial calcification)\n", + " \n", + " \n", + " Calcification, that is, pathological deposition of calcium salts, affecting arteries distributed throughout the body.\n", + " definition of HP:0004940 (Generalized arterial calcification)\n", + " \n", + " \n", + " #Generalised arterial calcification\n", + " definition of HP:0004940 (Generalized arterial calcification)\n", + " \n", + " \n", + " Abnormal pancreas size\n", + " definition of HP:0012094 (Abnormal pancreas size)\n", + " \n", + " \n", + " A deviation from the normal size of the pancreas.\n", + " definition of HP:0012094 (Abnormal pancreas size)\n", + " \n", + " \n", + " #Abnormal pancreas size\n", + " definition of HP:0012094 (Abnormal pancreas size)\n", + " \n", + " \n", + " Abnormal number of granulocyte precursors\n", + " definition of HP:0012137 (Abnormal number of granulocyte precursors)\n", + " \n", + " \n", + " Mild hypermetropia\n", + " definition of HP:0031728 (Mild hypermetropia)\n", + " \n", + " \n", + " A form of hypermetropia with not more than +2.00 diopters.\n", + " definition of HP:0031728 (Mild hypermetropia)\n", + " \n", + " \n", + " #Mild hyperopia\n", + " definition of HP:0031728 (Mild hypermetropia)\n", + " \n", + " \n", + " Hemifacial hypoplasia\n", + " definition of HP:0011332 (Hemifacial hypoplasia)\n", + " \n", + " \n", + " Unilateral underdevelopment of the facial tissues, including muscles and bones.\n", + " definition of HP:0011332 (Hemifacial hypoplasia)\n", + " \n", + " \n", + " #Decrease in size of half of face #Decrease in size of one side of the face #Decreased size of half of the face #Decreased size of one side of the face #Shrinking of half of face #Shrinking of one side of the face\n", + " definition of HP:0011332 (Hemifacial hypoplasia)\n", + " \n", + " \n", + " Polymorphic ventricular tachycardia\n", + " definition of HP:0031677 (Polymorphic ventricular tachycardia)\n", + " \n", + " \n", + " A type of ventricular tachycardia that is characterized by variable QRS complexes within each lead (i.e., QRS complexes may be different from beat to beat).\n", + " definition of HP:0031677 (Polymorphic ventricular tachycardia)\n", + " \n", + " \n", + " Retrograde memory impairment\n", + " definition of HP:0033690 (Retrograde memory impairment)\n", + " \n", + " \n", + " Inability to retrieve information from the long-term memory that was acquired before the onset of amnesia.\n", + " definition of HP:0033690 (Retrograde memory impairment)\n", + " \n", + " \n", + " #Retrograde amnesia\n", + " definition of HP:0033690 (Retrograde memory impairment)\n", + " \n", + " \n", + " Thymic hormone decreased\n", + " definition of HP:0003357 (Thymic hormone decreased)\n", + " \n", + " \n", + " A reduction in the level of thymic horomone.\n", + " definition of HP:0003357 (Thymic hormone decreased)\n", + " \n", + " \n", + " #Decreased thymic hormone\n", + " definition of HP:0003357 (Thymic hormone decreased)\n", + " \n", + " \n", + " Abnormal electrooculogram\n", + " definition of HP:0030454 (Abnormal electrooculogram)\n", + " \n", + " \n", + " The clinical electro-oculogram (EOG) is an electrophysiological test of function of the outer retina and retinal pigment epithelium (RPE) in which changes in electrical potential across the RPE are recorded during successive periods of dark and light adaptation.\n", + " definition of HP:0030454 (Abnormal electrooculogram)\n", + " \n", + " \n", + " #Abnormal EOG\n", + " definition of HP:0030454 (Abnormal electrooculogram)\n", + " \n", + " \n", + " Triggered by neuroleptic medication\n", + " definition of HP:0034551 (Triggered by neuroleptic medication)\n", + " \n", + " \n", + " Applies to a sign or symptom that is provoked or brought about by exposure to neuroleptic (also known as antipsychotic) medication.\n", + " definition of HP:0034551 (Triggered by neuroleptic medication)\n", + " \n", + " \n", + " #Triggered by antipsychotic medication\n", + " definition of HP:0034551 (Triggered by neuroleptic medication)\n", + " \n", + " \n", + " Cone-shaped epiphyses fused within their metaphyses\n", + " definition of HP:0005066 (Cone-shaped epiphyses fused within their metaphyses)\n", + " \n", + " \n", + " #Cone-shaped end part of long bone fused within their wide portion of wide bone\n", + " definition of HP:0005066 (Cone-shaped epiphyses fused within their metaphyses)\n", + " \n", + " \n", + " Breast granuloma\n", + " definition of HP:6000635 (Breast granuloma)\n", + " \n", + " \n", + " Formation of a non-necrotizing granuloma in breat tissue typically in combination with a localized infiltrate of multi-nucleated giant cells, epithelioid histiocytes, lymphocytes, and plasma cells.\n", + " definition of HP:6000635 (Breast granuloma)\n", + " \n", + " \n", + " #Granulomatous mastitis\n", + " definition of HP:6000635 (Breast granuloma)\n", + " \n", + " \n", + " Red blood cell keratocytosis\n", + " definition of HP:0005540 (Red blood cell keratocytosis)\n", + " \n", + " \n", + " A form of poikilocytosis in which the abnormally shaped erythrocytes have notches that results in projections that look like horns.\n", + " definition of HP:0005540 (Red blood cell keratocytosis)\n", + " \n", + " \n", + " #Distorted red blood cells resembling keratocytes #RBC keratocytosis\n", + " definition of HP:0005540 (Red blood cell keratocytosis)\n", + " \n", + " \n", + " Abnormal posturing\n", + " definition of HP:0002533 (Abnormal posturing)\n", + " \n", + " \n", + " Involuntary flexion or extension of the arms and legs.\n", + " definition of HP:0002533 (Abnormal posturing)\n", + " \n", + " \n", + " Mild short stature\n", + " definition of HP:0003502 (Mild short stature)\n", + " \n", + " \n", + " A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex.\n", + " definition of HP:0003502 (Mild short stature)\n", + " \n", + " \n", + " #short stature, mild\n", + " definition of HP:0003502 (Mild short stature)\n", + " \n", + " \n", + " Metaphyseal chondromatosis of tibia\n", + " definition of HP:0030294 (Metaphyseal chondromatosis of tibia)\n", + " \n", + " \n", + " Urinary retention\n", + " definition of HP:0000016 (Urinary retention)\n", + " \n", + " \n", + " Inability to completely empty the urinary bladder during the process of urination.\n", + " definition of HP:0000016 (Urinary retention)\n", + " \n", + " \n", + " #Increased post-void residual urine volume\n", + " definition of HP:0000016 (Urinary retention)\n", + " \n", + " \n", + " Unicuspid aortic valve\n", + " definition of HP:0012561 (Unicuspid aortic valve)\n", + " \n", + " \n", + " The presence of an aortic valve with one instead of the normal three cusps (flaps).\n", + " definition of HP:0012561 (Unicuspid aortic valve)\n", + " \n", + " \n", + " Fibroblast metachromasia\n", + " definition of HP:0003610 (Fibroblast metachromasia)\n", + " \n", + " \n", + " Increased cytoplasmic staining of fibroblasts with toluidine blue.\n", + " definition of HP:0003610 (Fibroblast metachromasia)\n", + " \n", + " \n", + " Athetosis\n", + " definition of HP:0002305 (Athetosis)\n", + " \n", + " \n", + " A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. Athetosis involves continuous smooth movements that appear random and are not composed of recognizable sub-movements or movement fragments. In contrast to chorea, in athetosis, the same regions of the body are repeatedly involved. Athetosis may worsen with attempts at movement of posture, but athetosis can also occur at rest.\n", + " definition of HP:0002305 (Athetosis)\n", + " \n", + " \n", + " #Athetoid movements #Involuntary writhing movements #Involuntary writhing movements in fingers, hands, toes, and feet\n", + " definition of HP:0002305 (Athetosis)\n", + " \n", + " \n", + " Sleep-wake cycle disturbance\n", + " definition of HP:0006979 (Sleep-wake cycle disturbance)\n", + " \n", + " \n", + " Any abnormality of an individual's circadian rhythm that affects the timing of sleeping and being awake is referred to as a sleep-wake disorder.\n", + " definition of HP:0006979 (Sleep-wake cycle disturbance)\n", + " \n", + " \n", + " #Internal-clock disorders #Sleep phase disturbance #Sleep-wake cycle disorders #Sleep-wake cycle disturbance\n", + " definition of HP:0006979 (Sleep-wake cycle disturbance)\n", + " \n", + " \n", + " Calvarial osteosclerosis\n", + " definition of HP:0005450 (Calvarial osteosclerosis)\n", + " \n", + " \n", + " An increase in bone density affecting the calvaria (roof of the skull).\n", + " definition of HP:0005450 (Calvarial osteosclerosis)\n", + " \n", + " \n", + " Positive synovial fluid gram stain\n", + " definition of HP:6000583 (Positive synovial fluid gram stain)\n", + " \n", + " \n", + " Demonstration of the presence of bacteria by gram staining of joint (synovial) fluid. The sample is generally obtained by arthrocentesis.\n", + " definition of HP:6000583 (Positive synovial fluid gram stain)\n", + " \n", + " \n", + " Decreased circulating complement C4a concentration\n", + " definition of HP:0045043 (Decreased circulating complement C4a concentration)\n", + " \n", + " \n", + " Concentration of the complement component C4a in the blood circulation below the lower limit of normal.\n", + " definition of HP:0045043 (Decreased circulating complement C4a concentration)\n", + " \n", + " \n", + " #C4a deficiency #Complement component 4A deficiency #Decreased serum complement C4a\n", + " definition of HP:0045043 (Decreased circulating complement C4a concentration)\n", + " \n", + " \n", + " Contracture of the proximal interphalangeal joint of the 4th finger\n", + " definition of HP:0009276 (Contracture of the proximal interphalangeal joint of the 4th finger)\n", + " \n", + " \n", + " Chronic loss of joint motion of the proximal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue. That is, the PIP joint of a fourth finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.\n", + " definition of HP:0009276 (Contracture of the proximal interphalangeal joint of the 4th finger)\n", + " \n", + " \n", + " #4th finger camptodactyly #Camptodactyly of the 4th finger #Camptodactyly of the ring finger\n", + " definition of HP:0009276 (Contracture of the proximal interphalangeal joint of the 4th finger)\n", + " \n", + " \n", + " Death in adolescence\n", + " definition of HP:0011421 (Death in adolescence)\n", + " \n", + " \n", + " Death during adolescence, the period between childhood and adulthood (roughly between the ages of 10 and 19 years).\n", + " definition of HP:0011421 (Death in adolescence)\n", + " \n", + " \n", + " #Death in adolescence\n", + " definition of HP:0011421 (Death in adolescence)\n", + " \n", + " \n", + " Sandwich appearance of vertebral bodies\n", + " definition of HP:0004618 (Sandwich appearance of vertebral bodies)\n", + " \n", + " \n", + " Asparaginuria\n", + " definition of HP:0032403 (Asparaginuria)\n", + " \n", + " \n", + " An increased concentration of asparagine in the urine.\n", + " definition of HP:0032403 (Asparaginuria)\n", + " \n", + " \n", + " #Increased level of asparagine in urine #Increased urine asparagine level\n", + " definition of HP:0032403 (Asparaginuria)\n", + " \n", + " \n", + " Reduced object sharing\n", + " definition of HP:4000085 (Reduced object sharing)\n", + " \n", + " \n", + " An absence or reduction in object sharing. Object sharing is an early emerging social skill in which a child will share objects such as toys, balls, or books with parents or peers during object play.\n", + " definition of HP:4000085 (Reduced object sharing)\n", + " \n", + " \n", + " Reduced blood urea nitrogen\n", + " definition of HP:0031969 (Reduced blood urea nitrogen)\n", + " \n", + " \n", + " An abnormally low concentration of urea nitrogen in the blood.\n", + " definition of HP:0031969 (Reduced blood urea nitrogen)\n", + " \n", + " \n", + " #Reduced BUN\n", + " definition of HP:0031969 (Reduced blood urea nitrogen)\n", + " \n", + " \n", + " Abnormal iduronate sulfatase concentration\n", + " definition of HP:0034202 (Abnormal iduronate sulfatase concentration)\n", + " \n", + " \n", + " Wide cranial sutures\n", + " definition of HP:0010537 (Wide cranial sutures)\n", + " \n", + " \n", + " An abnormally increased width of the cranial sutures for age-related norms (generally resulting from delayed closure).\n", + " definition of HP:0010537 (Wide cranial sutures)\n", + " \n", + " \n", + " #Broad cranial sutures #Diastasis of cranial sutures #Large cranial suture #open cranial sutures #Persistent open cranial sutures #Sutural diastasis #Widened cranial sutures\n", + " definition of HP:0010537 (Wide cranial sutures)\n", + " \n", + " \n", + " Anti-GABA(A)R antibody\n", + " definition of HP:5000009 (Anti-GABA(A)R antibody)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against gamma-aminobutyric acid A receptor, i.e., GABA(A)R.\n", + " definition of HP:5000009 (Anti-GABA(A)R antibody)\n", + " \n", + " \n", + " #Anti-GABAA R antibody #Anti-gamma amino butyric acid type A receptors antibody\n", + " definition of HP:5000009 (Anti-GABA(A)R antibody)\n", + " \n", + " \n", + " Retinopathy\n", + " definition of HP:0000488 (Retinopathy)\n", + " \n", + " \n", + " Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality.\n", + " definition of HP:0000488 (Retinopathy)\n", + " \n", + " \n", + " #Noninflammatory retina disease\n", + " definition of HP:0000488 (Retinopathy)\n", + " \n", + " \n", + " Renal neutrophilic tubulitis\n", + " definition of HP:0032590 (Renal neutrophilic tubulitis)\n", + " \n", + " \n", + " Infiltration of the renal tubular epithelium by neutrophils.\n", + " definition of HP:0032590 (Renal neutrophilic tubulitis)\n", + " \n", + " \n", + " Sclerosis of the middle phalanx of the 5th toe\n", + " definition of HP:0100938 (Sclerosis of the middle phalanx of the 5th toe)\n", + " \n", + " \n", + " #Increased bone density in the middle bone of the little toe #Increased bone density in the middle bone of the pinkie toe #Increased bone density in the middle bone of the pinky toe\n", + " definition of HP:0100938 (Sclerosis of the middle phalanx of the 5th toe)\n", + " \n", + " \n", + " Tetraplegia\n", + " definition of HP:0002445 (Tetraplegia)\n", + " \n", + " \n", + " Paralysis of all four limbs, and trunk of the body below the level of an associated injury to the spinal cord. The etiology of quadriplegia is similar to that of paraplegia except that the lesion is in the cervical spinal cord rather than in the thoracic or lumbar segments of the spinal cord.\n", + " definition of HP:0002445 (Tetraplegia)\n", + " \n", + " \n", + " #Paralysis of all four limbs #Quadriplegia\n", + " definition of HP:0002445 (Tetraplegia)\n", + " \n", + " \n", + " Pulmonary venous hypertension\n", + " definition of HP:0030950 (Pulmonary venous hypertension)\n", + " \n", + " \n", + " An abnormal increase in pressure in the pulmonary veins, usually as a result of left atrial hypertension.\n", + " definition of HP:0030950 (Pulmonary venous hypertension)\n", + " \n", + " \n", + " Abnormal cortical gyration\n", + " definition of HP:0002536 (Abnormal cortical gyration)\n", + " \n", + " \n", + " An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain.\n", + " definition of HP:0002536 (Abnormal cortical gyration)\n", + " \n", + " \n", + " #Abnormal gyration #Cerebral gyral anomalies\n", + " definition of HP:0002536 (Abnormal cortical gyration)\n", + " \n", + " \n", + " Hemimelia of forearm\n", + " definition of HP:6000948 (Hemimelia of forearm)\n", + " \n", + " \n", + " A developmental defect leading to a transverse deficiency with absence of the forearm (eg ulna and radius), wrist and hand.\n", + " definition of HP:6000948 (Hemimelia of forearm)\n", + " \n", + " \n", + " Recurrent singultus\n", + " definition of HP:0100247 (Recurrent singultus)\n", + " \n", + " \n", + " A contraction of the diaphragm that repeats several times per minute. In humans, the abrupt rush of air into the lungs causes the epiglottis to close, creating a hic sound. Also known as synchronous diaphragmatic flutter (SDF), or singultus, from the Latin singult, the act of catching one's breath while sobbing. The hiccup is an involuntary action involving a reflex arc.\n", + " definition of HP:0100247 (Recurrent singultus)\n", + " \n", + " \n", + " #Recurrent hiccough #Recurrent hiccup #Recurrent synchronous diaphragmatic flutter\n", + " definition of HP:0100247 (Recurrent singultus)\n", + " \n", + " \n", + " Mitochondrial encephalopathy\n", + " definition of HP:0006789 (Mitochondrial encephalopathy)\n", + " \n", + " \n", + " Basilar artery fenestration\n", + " definition of HP:6000787 (Basilar artery fenestration)\n", + " \n", + " \n", + " A fenestration affecting the basilar artery. Basilar fenestration typically occurs at the lower end of the basilar artery just as the vertebral arteries join Fenestrations of intracranial arteries are segmental duplications of the lumen into two distinct endothelium-lined channels, which may or may not share their adventitial layer. They can range from a small focus of divided tissue to long-segment duplication. Fenestrations are the result of partial failure of fusion of paired primitive embryologic vessels or incomplete obliteration of different anastomosis in a primitive vascular network. The association of fenestrations with aneurysms has been suggested in many small case series, though the exact relationship is not well defined.\n", + " definition of HP:6000787 (Basilar artery fenestration)\n", + " \n", + " \n", + " #Basilar fenestration\n", + " definition of HP:6000787 (Basilar artery fenestration)\n", + " \n", + " \n", + " Addictive substance use\n", + " definition of HP:0033511 (Addictive substance use)\n", + " \n", + " \n", + " Chronic compulsive drug seeking and continued use despite harmful consequences.\n", + " definition of HP:0033511 (Addictive substance use)\n", + " \n", + " \n", + " #Addictive drug use #Drug addiction\n", + " definition of HP:0033511 (Addictive substance use)\n", + " \n", + " \n", + " Non-necrotizing pulmonary granulomatosis\n", + " definition of HP:0033551 (Non-necrotizing pulmonary granulomatosis)\n", + " \n", + " \n", + " A granuloma located in the lung that is not associated with necrotic changes.\n", + " definition of HP:0033551 (Non-necrotizing pulmonary granulomatosis)\n", + " \n", + " \n", + " #Non-caseating pulmonary granulomatosis\n", + " definition of HP:0033551 (Non-necrotizing pulmonary granulomatosis)\n", + " \n", + " \n", + " Abnormal relationship\n", + " definition of HP:5200024 (Abnormal relationship)\n", + " \n", + " \n", + " The state of having abnormal relationships with others. This does not describe specific aspects of one's social aptitudes but rather a state which may come about from these aptitudes, such as lacking peer relationships, lacking close friends, or having a relational network that is abnormal given one's cultural context.\n", + " definition of HP:5200024 (Abnormal relationship)\n", + " \n", + " \n", + " Aplasia of the parotid gland\n", + " definition of HP:0009740 (Aplasia of the parotid gland)\n", + " \n", + " \n", + " Absence of the parotid gland.\n", + " definition of HP:0009740 (Aplasia of the parotid gland)\n", + " \n", + " \n", + " #Abnormally small parotid gland #Underdevelopment of parotid gland\n", + " definition of HP:0009740 (Aplasia of the parotid gland)\n", + " \n", + " \n", + " Abnormal pelvis bone morphology\n", + " definition of HP:0040163 (Abnormal pelvis bone morphology)\n", + " \n", + " \n", + " #Abnormal shape of pelvis bone\n", + " definition of HP:0040163 (Abnormal pelvis bone morphology)\n", + " \n", + " \n", + " Rectoperineal fistula\n", + " definition of HP:0004792 (Rectoperineal fistula)\n", + " \n", + " \n", + " The presence of a fistula between the perineum and the rectum.\n", + " definition of HP:0004792 (Rectoperineal fistula)\n", + " \n", + " \n", + " Cerebral white matter hypoplasia\n", + " definition of HP:0012430 (Cerebral white matter hypoplasia)\n", + " \n", + " \n", + " Underdevelopment of the cerebral white matter.\n", + " definition of HP:0012430 (Cerebral white matter hypoplasia)\n", + " \n", + " \n", + " Severe hearing impairment\n", + " definition of HP:0012714 (Severe hearing impairment)\n", + " \n", + " \n", + " A severe form of hearing impairment.\n", + " definition of HP:0012714 (Severe hearing impairment)\n", + " \n", + " \n", + " #Severe deafness #Severe hearing impairment #Severe hearing loss\n", + " definition of HP:0012714 (Severe hearing impairment)\n", + " \n", + " \n", + " Bullet-shaped middle toe phalanx\n", + " definition of HP:0010196 (Bullet-shaped middle toe phalanx)\n", + " \n", + " \n", + " An abnormal morphology of one or more middle phalanges of the toes, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.\n", + " definition of HP:0010196 (Bullet-shaped middle toe phalanx)\n", + " \n", + " \n", + " #Bullet-shaped middle bones of the toes #Bullet-shaped middle phalanges of the toes\n", + " definition of HP:0010196 (Bullet-shaped middle toe phalanx)\n", + " \n", + " \n", + " Disproportionate short-trunk short stature\n", + " definition of HP:0003521 (Disproportionate short-trunk short stature)\n", + " \n", + " \n", + " A type of disproportionate short stature characterized by a short trunk but a average-sized limbs.\n", + " definition of HP:0003521 (Disproportionate short-trunk short stature)\n", + " \n", + " \n", + " #Disproportionate short-trunked dwarfism #Disproportionate short-trunked short stature #Short-trunked dwarfism\n", + " definition of HP:0003521 (Disproportionate short-trunk short stature)\n", + " \n", + " \n", + " Absence of the sacrum\n", + " definition of HP:0010305 (Absence of the sacrum)\n", + " \n", + " \n", + " Absence (aplasia) of the sacrum.\n", + " definition of HP:0010305 (Absence of the sacrum)\n", + " \n", + " \n", + " #Absent sacrum #Sacral agenesis\n", + " definition of HP:0010305 (Absence of the sacrum)\n", + " \n", + " \n", + " Pulmonary lymphoma\n", + " definition of HP:0011953 (Pulmonary lymphoma)\n", + " \n", + " \n", + " Lung parenchymal involvement with lymphoma.\n", + " definition of HP:0011953 (Pulmonary lymphoma)\n", + " \n", + " \n", + " Small epiphyses of the distal phalanges of the hand\n", + " definition of HP:0010254 (Small epiphyses of the distal phalanges of the hand)\n", + " \n", + " \n", + " #Small end part of the outermost hand bones\n", + " definition of HP:0010254 (Small epiphyses of the distal phalanges of the hand)\n", + " \n", + " \n", + " Hypopigmentation of hair\n", + " definition of HP:0005599 (Hypopigmentation of hair)\n", + " \n", + " \n", + " #Hair hypopigmentation #Loss of hair color #Loss of hair colour\n", + " definition of HP:0005599 (Hypopigmentation of hair)\n", + " \n", + " \n", + " Bilineage myelodysplasia\n", + " definition of HP:0012149 (Bilineage myelodysplasia)\n", + " \n", + " \n", + " Myelodysplasia with dysplastic changes in two of the myeloid lineages: erythroid, granulocytic, megakaryocytic.\n", + " definition of HP:0012149 (Bilineage myelodysplasia)\n", + " \n", + " \n", + " Cutaneous syndactyly\n", + " definition of HP:0012725 (Cutaneous syndactyly)\n", + " \n", + " \n", + " A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits.\n", + " definition of HP:0012725 (Cutaneous syndactyly)\n", + " \n", + " \n", + " #Cutaneous syndactyly of digits #Syndactyly, cutaneous\n", + " definition of HP:0012725 (Cutaneous syndactyly)\n", + " \n", + " \n", + " Bilateral choanal atresia/stenosis\n", + " definition of HP:0200138 (Bilateral choanal atresia/stenosis)\n", + " \n", + " \n", + " Absent middle phalanx of 3rd finger\n", + " definition of HP:0009438 (Absent middle phalanx of 3rd finger)\n", + " \n", + " \n", + " Absence of the middle phalanx of the middle (3rd) finger.\n", + " definition of HP:0009438 (Absent middle phalanx of 3rd finger)\n", + " \n", + " \n", + " #Absent middle bone of middle finger #Absent middle phalanx of middle finger #Aplasia of the middle phalanx of the 3rd finger\n", + " definition of HP:0009438 (Absent middle phalanx of 3rd finger)\n", + " \n", + " \n", + " Abnormal S wave\n", + " definition of HP:0032195 (Abnormal S wave)\n", + " \n", + " \n", + " Any anomaly of the S wave, which is the third component of the QRS wave complex. The S wave signifies the final depolarization of the ventricles at the base of the heart.\n", + " definition of HP:0032195 (Abnormal S wave)\n", + " \n", + " \n", + " Abnormal jejunum morphology\n", + " definition of HP:0005265 (Abnormal jejunum morphology)\n", + " \n", + " \n", + " An abnormality of the jejunum, i.e., of the middle section of the small intestine.\n", + " definition of HP:0005265 (Abnormal jejunum morphology)\n", + " \n", + " \n", + " #Abnormality of the jejunum\n", + " definition of HP:0005265 (Abnormal jejunum morphology)\n", + " \n", + " \n", + " Secondary hyperparathyroidism\n", + " definition of HP:0000867 (Secondary hyperparathyroidism)\n", + " \n", + " \n", + " Secondary hyperparathyroidism refers to the production of higher than normal levels of parathyroid hormone in the presence of hypocalcemia.\n", + " definition of HP:0000867 (Secondary hyperparathyroidism)\n", + " \n", + " \n", + " Increased skull ossification\n", + " definition of HP:0004330 (Increased skull ossification)\n", + " \n", + " \n", + " An increase in the magnitude or amount of ossification of the skull.\n", + " definition of HP:0004330 (Increased skull ossification)\n", + " \n", + " \n", + " #Hyperossification of skull #Hyperostosis of skull #Sclerosis of bones of skull #Sclerosis of skull\n", + " definition of HP:0004330 (Increased skull ossification)\n", + " \n", + " \n", + " Descending thoracic aorta aneurysm\n", + " definition of HP:0004959 (Descending thoracic aorta aneurysm)\n", + " \n", + " \n", + " An abnormal localized widening (dilatation) of the descending thoracic aorta.\n", + " definition of HP:0004959 (Descending thoracic aorta aneurysm)\n", + " \n", + " \n", + " Fibrocystic breast lesion\n", + " definition of HP:6000896 (Fibrocystic breast lesion)\n", + " \n", + " \n", + " A type of benign cyst or cysts in breast tissue that are typically mobile within the glandular breast tissue, chest wall, and skin and are rubber-like in texture. The main histological features are an extracellular matrix of collagen, peri canalicular patterns of stromal cells with the presence of florid epithelial hyperplasia.\n", + " definition of HP:6000896 (Fibrocystic breast lesion)\n", + " \n", + " \n", + " Dysplasia of the superior cerebellar vermis\n", + " definition of HP:0033745 (Dysplasia of the superior cerebellar vermis)\n", + " \n", + " \n", + " A type of cerebellar dysplasia that affects the upper part of the cerebellar vermis.\n", + " definition of HP:0033745 (Dysplasia of the superior cerebellar vermis)\n", + " \n", + " \n", + " Abnormality of corneal shape\n", + " definition of HP:0040004 (Abnormality of corneal shape)\n", + " \n", + " \n", + " Increased circulating interleukin 5 concentration\n", + " definition of HP:0034491 (Increased circulating interleukin 5 concentration)\n", + " \n", + " \n", + " An increased concentration of interleukin-5 in the blood circulation.\n", + " definition of HP:0034491 (Increased circulating interleukin 5 concentration)\n", + " \n", + " \n", + " #IL-5 high in blood\n", + " definition of HP:0034491 (Increased circulating interleukin 5 concentration)\n", + " \n", + " \n", + " Dislocation of toes\n", + " definition of HP:0008141 (Dislocation of toes)\n", + " \n", + " \n", + " #Dislocation of toes\n", + " definition of HP:0008141 (Dislocation of toes)\n", + " \n", + " \n", + " Proximal/middle symphalangism of the 2nd finger\n", + " definition of HP:0009579 (Proximal/middle symphalangism of the 2nd finger)\n", + " \n", + " \n", + " Fusion of the proximal and middle phalanges of the 2nd finger.\n", + " definition of HP:0009579 (Proximal/middle symphalangism of the 2nd finger)\n", + " \n", + " \n", + " #Fused innermost and middle index finger bones\n", + " definition of HP:0009579 (Proximal/middle symphalangism of the 2nd finger)\n", + " \n", + " \n", + " Ameliorated by heat\n", + " definition of HP:0025256 (Ameliorated by heat)\n", + " \n", + " \n", + " Applies to a sign or symptom that is improved or made more bearable by heat (including fever).\n", + " definition of HP:0025256 (Ameliorated by heat)\n", + " \n", + " \n", + " #Heat improves condition #Heat improves symptom\n", + " definition of HP:0025256 (Ameliorated by heat)\n", + " \n", + " \n", + " Decreased beta-galactosidase activity\n", + " definition of HP:0008166 (Decreased beta-galactosidase activity)\n", + " \n", + " \n", + " Abnormally decreased rate of beta-galactosidase activity. Beta-galactosidase activity can be measured in leukocyte, fibroblast, or plasma.\n", + " definition of HP:0008166 (Decreased beta-galactosidase activity)\n", + " \n", + " \n", + " #Beta-galactosidase deficiency in fibroblasts and white blood cells #Beta-galactosidase-1 deficiency #Decreased beta galactosidase activity\n", + " definition of HP:0008166 (Decreased beta-galactosidase activity)\n", + " \n", + " \n", + " Abnormal muscle fiber laminin beta 1\n", + " definition of HP:0030093 (Abnormal muscle fiber laminin beta 1)\n", + " \n", + " \n", + " A deviation from normal of the amount of laminin beta 1 in muscle fiber tissue. Laminin 2 is a major component of the basal lamina of skeletal muscle cells. It is a heterotrimer composed of 3 chains: merosin (laminin alpha 2 chain), beta 1, and gamma 1.\n", + " definition of HP:0030093 (Abnormal muscle fiber laminin beta 1)\n", + " \n", + " \n", + " #Abnormal muscle fibre laminin beta 1\n", + " definition of HP:0030093 (Abnormal muscle fiber laminin beta 1)\n", + " \n", + " \n", + " Fragmentation of the epiphyses of the 4th finger\n", + " definition of HP:0009397 (Fragmentation of the epiphyses of the 4th finger)\n", + " \n", + " \n", + " Fragmented appearance of the epiphyses of the 4th finger.\n", + " definition of HP:0009397 (Fragmentation of the epiphyses of the 4th finger)\n", + " \n", + " \n", + " #Fragmentation of the end part of the ring finger bones\n", + " definition of HP:0009397 (Fragmentation of the epiphyses of the 4th finger)\n", + " \n", + " \n", + " Mastalgia\n", + " definition of HP:0034265 (Mastalgia)\n", + " \n", + " \n", + " Pain in the breast.\n", + " definition of HP:0034265 (Mastalgia)\n", + " \n", + " \n", + " #Breast pain #Painful breast\n", + " definition of HP:0034265 (Mastalgia)\n", + " \n", + " \n", + " Cerebral visual impairment\n", + " definition of HP:0100704 (Cerebral visual impairment)\n", + " \n", + " \n", + " A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye.\n", + " definition of HP:0100704 (Cerebral visual impairment)\n", + " \n", + " \n", + " #Cortical blindness #Cortical visual impairment #Cortical/cerebral visual impairment #CVI\n", + " definition of HP:0100704 (Cerebral visual impairment)\n", + " \n", + " \n", + " Intention tremor\n", + " definition of HP:0002080 (Intention tremor)\n", + " \n", + " \n", + " A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger).\n", + " definition of HP:0002080 (Intention tremor)\n", + " \n", + " \n", + " Status epilepticus with prominent motor symptoms\n", + " definition of HP:0032658 (Status epilepticus with prominent motor symptoms)\n", + " \n", + " \n", + " Status epilepticus with prominent motor signs during the prolonged seizure.\n", + " definition of HP:0032658 (Status epilepticus with prominent motor symptoms)\n", + " \n", + " \n", + " Abnormal circulating interferon-gamma concentration\n", + " definition of HP:0030355 (Abnormal circulating interferon-gamma concentration)\n", + " \n", + " \n", + " Abnormal levels of interferon gamma measured in the blood circulation.\n", + " definition of HP:0030355 (Abnormal circulating interferon-gamma concentration)\n", + " \n", + " \n", + " #Abnormal serum interferon-gamma level\n", + " definition of HP:0030355 (Abnormal circulating interferon-gamma concentration)\n", + " \n", + " \n", + " Corneal guttata\n", + " definition of HP:0012038 (Corneal guttata)\n", + " \n", + " \n", + " Corneal guttata are droplet-like accumulations of non-banded collagen on the posterior surface of Descemet's membrane. The presence of focal thickenings of Descemet's membrane histologically named guttae. Cornea guttata can be easily diagnosed in vivo and ex vivo by means of specular microscopy as it gives dark areas where no endothelial cells are visible.\n", + " definition of HP:0012038 (Corneal guttata)\n", + " \n", + " \n", + " #Corneal endothelial guttata #Corneal guttae\n", + " definition of HP:0012038 (Corneal guttata)\n", + " \n", + " \n", + " Abnormal gallbladder morphology\n", + " definition of HP:0012437 (Abnormal gallbladder morphology)\n", + " \n", + " \n", + " A structural anomaly of the gallbladder.\n", + " definition of HP:0012437 (Abnormal gallbladder morphology)\n", + " \n", + " \n", + " #Abnormal gallbladder structure #Abnormal shape of gallbladder\n", + " definition of HP:0012437 (Abnormal gallbladder morphology)\n", + " \n", + " \n", + " Increased stool urobilinogen concentration\n", + " definition of HP:0500115 (Increased stool urobilinogen concentration)\n", + " \n", + " \n", + " An increased amount of urobilinogen present in the stool.\n", + " definition of HP:0500115 (Increased stool urobilinogen concentration)\n", + " \n", + " \n", + " Abnormal oral mucosa morphology\n", + " definition of HP:0011830 (Abnormal oral mucosa morphology)\n", + " \n", + " \n", + " Abnormality of the oral mucosa.\n", + " definition of HP:0011830 (Abnormal oral mucosa morphology)\n", + " \n", + " \n", + " #Abnormality of lining of mouth #Abnormality of mucosa of mouth #Abnormality of oral mucosa #Abnormality of oral mucous membrane\n", + " definition of HP:0011830 (Abnormal oral mucosa morphology)\n", + " \n", + " \n", + " Peroneal muscle atrophy\n", + " definition of HP:0009049 (Peroneal muscle atrophy)\n", + " \n", + " \n", + " Atrophy of the peroneous muscles, peroneus longus (also known as Fibularis longus), Peroneus brevis (also known as fibularis brevis, and Peroneus tertius (also known as fibularis tertius).\n", + " definition of HP:0009049 (Peroneal muscle atrophy)\n", + " \n", + " \n", + " #Peroneal atrophy\n", + " definition of HP:0009049 (Peroneal muscle atrophy)\n", + " \n", + " \n", + " Increased circulating specific IgE antibody concentration\n", + " definition of HP:0032336 (Increased circulating specific IgE antibody concentration)\n", + " \n", + " \n", + " #Increased circulating specific IgE antibody\n", + " definition of HP:0032336 (Increased circulating specific IgE antibody concentration)\n", + " \n", + " \n", + " Abnormality of acid-base homeostasis\n", + " definition of HP:0004360 (Abnormality of acid-base homeostasis)\n", + " \n", + " \n", + " An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH.\n", + " definition of HP:0004360 (Abnormality of acid-base homeostasis)\n", + " \n", + " \n", + " Abnormal tubulointerstitial morphology\n", + " definition of HP:0001969 (Abnormal tubulointerstitial morphology)\n", + " \n", + " \n", + " An abnormality that involves the tubules and interstitial tissue of the kidney.\n", + " definition of HP:0001969 (Abnormal tubulointerstitial morphology)\n", + " \n", + " \n", + " #Tubulointerstitial abnormality\n", + " definition of HP:0001969 (Abnormal tubulointerstitial morphology)\n", + " \n", + " \n", + " Symphalangism of the 2nd finger\n", + " definition of HP:0009545 (Symphalangism of the 2nd finger)\n", + " \n", + " \n", + " #Fused index finger bones #Symphalangism of index finger phalanges\n", + " definition of HP:0009545 (Symphalangism of the 2nd finger)\n", + " \n", + " \n", + " Enlargement of the proximal femoral epiphysis\n", + " definition of HP:0003371 (Enlargement of the proximal femoral epiphysis)\n", + " \n", + " \n", + " An abnormal enlargement of the proximal epiphysis of the femur.\n", + " definition of HP:0003371 (Enlargement of the proximal femoral epiphysis)\n", + " \n", + " \n", + " #Enlarged capital femoral epiphyses #Enlarged end part of innermost thighbone\n", + " definition of HP:0003371 (Enlargement of the proximal femoral epiphysis)\n", + " \n", + " \n", + " Decreased circulating fetuin A concentration\n", + " definition of HP:0033306 (Decreased circulating fetuin A concentration)\n", + " \n", + " \n", + " A reduction below normal of fetuin A in the blood circulation.\n", + " definition of HP:0033306 (Decreased circulating fetuin A concentration)\n", + " \n", + " \n", + " Prostaglandin E1 exposure\n", + " definition of HP:4000134 (Prostaglandin E1 exposure)\n", + " \n", + " \n", + " History of having been treateed with prostaglandin E1.\n", + " definition of HP:4000134 (Prostaglandin E1 exposure)\n", + " \n", + " \n", + " Partial duplication of the proximal phalanx of the 3rd toe\n", + " definition of HP:0100422 (Partial duplication of the proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Partial duplication of proximal phalanx of third toe.\n", + " definition of HP:0100422 (Partial duplication of the proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Partial duplication of the innermost bone of 3rd toe #Partial duplication of the proximal phalanx of the third toe\n", + " definition of HP:0100422 (Partial duplication of the proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Abnormality of chorioretinal pigmentation\n", + " definition of HP:0007661 (Abnormality of chorioretinal pigmentation)\n", + " \n", + " \n", + " Laryngeal papilloma\n", + " definition of HP:0033001 (Laryngeal papilloma)\n", + " \n", + " \n", + " A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on the larynx.\n", + " definition of HP:0033001 (Laryngeal papilloma)\n", + " \n", + " \n", + " #Laryngeal papillomas #Laryngeal papillomatosis\n", + " definition of HP:0033001 (Laryngeal papilloma)\n", + " \n", + " \n", + " Abnormality of medial pterygoid muscle\n", + " definition of HP:3000006 (Abnormality of medial pterygoid muscle)\n", + " \n", + " \n", + " An abnormality of a medial pterygoid muscle.\n", + " definition of HP:3000006 (Abnormality of medial pterygoid muscle)\n", + " \n", + " \n", + " Productive cough\n", + " definition of HP:0031245 (Productive cough)\n", + " \n", + " \n", + " A cough that produces phlegm or mucus.\n", + " definition of HP:0031245 (Productive cough)\n", + " \n", + " \n", + " #Cough with mucus production #Wet cough\n", + " definition of HP:0031245 (Productive cough)\n", + " \n", + " \n", + " Elevated urinary prostaglandin E2 level\n", + " definition of HP:0034049 (Elevated urinary prostaglandin E2 level)\n", + " \n", + " \n", + " An increased amount of prostaglandin E2 in the urine.\n", + " definition of HP:0034049 (Elevated urinary prostaglandin E2 level)\n", + " \n", + " \n", + " #Elevated urinary PGE2 level\n", + " definition of HP:0034049 (Elevated urinary prostaglandin E2 level)\n", + " \n", + " \n", + " Absent/shortened outer dynein arms\n", + " definition of HP:0200109 (Absent/shortened outer dynein arms)\n", + " \n", + " \n", + " Thickened glomerular basement membranes with electron dense deposits\n", + " definition of HP:0033286 (Thickened glomerular basement membranes with electron dense deposits)\n", + " \n", + " \n", + " Old-aged sensorineural hearing impairment\n", + " definition of HP:0040113 (Old-aged sensorineural hearing impairment)\n", + " \n", + " \n", + " #Presbycusis\n", + " definition of HP:0040113 (Old-aged sensorineural hearing impairment)\n", + " \n", + " \n", + " Abnormal fetal genitourinary system morphology\n", + " definition of HP:0034242 (Abnormal fetal genitourinary system morphology)\n", + " \n", + " \n", + " An anomalous structural finding of the fetal genitourinary system. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.\n", + " definition of HP:0034242 (Abnormal fetal genitourinary system morphology)\n", + " \n", + " \n", + " 1-2 toe complete cutaneous syndactyly\n", + " definition of HP:0005767 (1-2 toe complete cutaneous syndactyly)\n", + " \n", + " \n", + " CD45 expression\n", + " definition of HP:0430098 (CD45 expression)\n", + " \n", + " \n", + " Detection of the presence of CD45 on the cell(s) of interest with the use of anti-CD45 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry).\n", + " definition of HP:0430098 (CD45 expression)\n", + " \n", + " \n", + " Triggered by muscle relaxant\n", + " definition of HP:0034195 (Triggered by muscle relaxant)\n", + " \n", + " \n", + " Applies to a sign or symptom that is provoked or brought about by exposure to a muscle relaxant such as suxamethonium and mivacurium.\n", + " definition of HP:0034195 (Triggered by muscle relaxant)\n", + " \n", + " \n", + " Generalized aminoaciduria\n", + " definition of HP:0002909 (Generalized aminoaciduria)\n", + " \n", + " \n", + " An increased concentration of all types of amino acid in the urine.\n", + " definition of HP:0002909 (Generalized aminoaciduria)\n", + " \n", + " \n", + " #Generalised aminoaciduria #Generalised nonspecific aminoaciduria #Generalized nonspecific aminoaciduria\n", + " definition of HP:0002909 (Generalized aminoaciduria)\n", + " \n", + " \n", + " Irregular proximal tibial epiphyses\n", + " definition of HP:0006456 (Irregular proximal tibial epiphyses)\n", + " \n", + " \n", + " Anomaly of the contour of the proximal epiphysis of the tibia such that its normally smooth appearance is irregular.\n", + " definition of HP:0006456 (Irregular proximal tibial epiphyses)\n", + " \n", + " \n", + " #Irregular innermost shankbone end part #Irregular innermost shinbone end part\n", + " definition of HP:0006456 (Irregular proximal tibial epiphyses)\n", + " \n", + " \n", + " Premature pubarche\n", + " definition of HP:0012411 (Premature pubarche)\n", + " \n", + " \n", + " The onset of growth of pubic hair at an earlier age than normal.\n", + " definition of HP:0012411 (Premature pubarche)\n", + " \n", + " \n", + " #Premature pubic hair growth\n", + " definition of HP:0012411 (Premature pubarche)\n", + " \n", + " \n", + " Asymmetric septal hypertrophy\n", + " definition of HP:0001670 (Asymmetric septal hypertrophy)\n", + " \n", + " \n", + " Hypertrophic cardiomyopathy with an asymmetrical pattern of hypertrophy, with a predilection for the interventricular septum and myocyte disarray.\n", + " definition of HP:0001670 (Asymmetric septal hypertrophy)\n", + " \n", + " \n", + " Odontodysplasia\n", + " definition of HP:0000694 (Odontodysplasia)\n", + " \n", + " \n", + " The diagnosis odontodysplasia requires clinical and radiological exams, in which unusually large pulp chambers and large pulp room chambers with thin enamel and dentin are visible. It may affect either a single tooth or several teeth. The term regional odontodysplasia is used if several teeth are affected. It affects the deciduous and permanent dentitions in the maxilla, the mandible or both, although the maxilla is more frequently involved. A type of dental dysplasia occurring in dentinogenesis imperfecta in which the pulp chambers are enlarged and there is a reduced amount of coronal dentin.\n", + " definition of HP:0000694 (Odontodysplasia)\n", + " \n", + " \n", + " #Ghost teeth #Shell teeth #Teeth with dentinal dysplasia #Teeth with thin dentin and large pulp chambers #Teeth with type iii dentinogenesis imperfecta\n", + " definition of HP:0000694 (Odontodysplasia)\n", + " \n", + " \n", + " Dilated ejaculatory duct\n", + " definition of HP:6000471 (Dilated ejaculatory duct)\n", + " \n", + " \n", + " Increase in diameter of the ejeculatory duct. The ejaculatory duct delivers sperm into the urethra, adding secretions from the prostate and is formed by the union of the vas deferens with the duct of the seminal vesicle.\n", + " definition of HP:6000471 (Dilated ejaculatory duct)\n", + " \n", + " \n", + " #Ejaculatory duct dilated\n", + " definition of HP:6000471 (Dilated ejaculatory duct)\n", + " \n", + " \n", + " Fractured distal phalanx of manual digit 5\n", + " definition of HP:0041179 (Fractured distal phalanx of manual digit 5)\n", + " \n", + " \n", + " A partial or complete breakage of the distal phalanx of manual digit 5.\n", + " definition of HP:0041179 (Fractured distal phalanx of manual digit 5)\n", + " \n", + " \n", + " #bone distal phalanx of manual digit 5\n", + " definition of HP:0041179 (Fractured distal phalanx of manual digit 5)\n", + " \n", + " \n", + " Reduced circulating urocanic acid concentration\n", + " definition of HP:0034870 (Reduced circulating urocanic acid concentration)\n", + " \n", + " \n", + " The concentration of urocanic acid in the blood circulation is below the lower limit of normal.\n", + " definition of HP:0034870 (Reduced circulating urocanic acid concentration)\n", + " \n", + " \n", + " #Urocanic acid low in blood\n", + " definition of HP:0034870 (Reduced circulating urocanic acid concentration)\n", + " \n", + " \n", + " Small joint hypermobilty\n", + " definition of HP:0430046 (Small joint hypermobilty)\n", + " \n", + " \n", + " The capability that a small joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Small joints include metacarpophalangeal joints, proximal interphalangeal joints, \\nsecond to fifth metatarsophalangeal joints, and wrists.\n", + " definition of HP:0430046 (Small joint hypermobilty)\n", + " \n", + " \n", + " Hand dimple\n", + " definition of HP:0040251 (Hand dimple)\n", + " \n", + " \n", + " A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the hand.\n", + " definition of HP:0040251 (Hand dimple)\n", + " \n", + " \n", + " #Hand dimples\n", + " definition of HP:0040251 (Hand dimple)\n", + " \n", + " \n", + " Abnormal muscle fiber valosin-containing protein\n", + " definition of HP:0030228 (Abnormal muscle fiber valosin-containing protein)\n", + " \n", + " \n", + " A deviation from normal in the expression of valosin-containing protein in muscle tissue. Valosin-containing protein is an ubiquitously expressed multifunctional 100-kD protein that is a member of the AAA+ (ATPase associated with various activities) protein family.\n", + " definition of HP:0030228 (Abnormal muscle fiber valosin-containing protein)\n", + " \n", + " \n", + " #Abnormal muscle fibre valosin-containing protein\n", + " definition of HP:0030228 (Abnormal muscle fiber valosin-containing protein)\n", + " \n", + " \n", + " Renotubular dysgenesis\n", + " definition of HP:0008660 (Renotubular dysgenesis)\n", + " \n", + " \n", + " A developmental defect characterized by absence or poor development of proximal renal tubules.\n", + " definition of HP:0008660 (Renotubular dysgenesis)\n", + " \n", + " \n", + " #Renal tubular dysgenesis\n", + " definition of HP:0008660 (Renotubular dysgenesis)\n", + " \n", + " \n", + " Cortical radial artery neutrophil hypercellularity\n", + " definition of HP:0033957 (Cortical radial artery neutrophil hypercellularity)\n", + " \n", + " \n", + " A type of cortical radial artery endoarterial leukocyte hypercellularity due to the presence of increased numbers of neutrophils in the lumen of cortical radial arteries.\n", + " definition of HP:0033957 (Cortical radial artery neutrophil hypercellularity)\n", + " \n", + " \n", + " #Endocapillary hypercellularity within interlobular arterial endothelium consisting of neutrophils\n", + " definition of HP:0033957 (Cortical radial artery neutrophil hypercellularity)\n", + " \n", + " \n", + " Abnormal cutaneous collagen fibril morphology\n", + " definition of HP:0031512 (Abnormal cutaneous collagen fibril morphology)\n", + " \n", + " \n", + " Abnormality of fluid regulation\n", + " definition of HP:0011032 (Abnormality of fluid regulation)\n", + " \n", + " \n", + " An abnormality of the regulation of body fluids.\n", + " definition of HP:0011032 (Abnormality of fluid regulation)\n", + " \n", + " \n", + " #Abnormality of fluid regulation #Fluid imbalance\n", + " definition of HP:0011032 (Abnormality of fluid regulation)\n", + " \n", + " \n", + " Elevated urinary vanillactic acid level\n", + " definition of HP:6001002 (Elevated urinary vanillactic acid level)\n", + " \n", + " \n", + " The amount of vanillactic acid in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6001002 (Elevated urinary vanillactic acid level)\n", + " \n", + " \n", + " Metrorrhagia\n", + " definition of HP:0100608 (Metrorrhagia)\n", + " \n", + " \n", + " Bleeding at irregular intervals.\n", + " definition of HP:0100608 (Metrorrhagia)\n", + " \n", + " \n", + " #Abnormal uterus bleeding #Intermenstrual bleeding #Menstrual spotting\n", + " definition of HP:0100608 (Metrorrhagia)\n", + " \n", + " \n", + " Abnormal femur morphology\n", + " definition of HP:0002823 (Abnormal femur morphology)\n", + " \n", + " \n", + " Any anomaly of the structure of the femur.\n", + " definition of HP:0002823 (Abnormal femur morphology)\n", + " \n", + " \n", + " #Abnormality of femur morphology #Abnormality of the femora #Abnormality of the thighbone\n", + " definition of HP:0002823 (Abnormal femur morphology)\n", + " \n", + " \n", + " Labial pseudohypertrophy\n", + " definition of HP:0008739 (Labial pseudohypertrophy)\n", + " \n", + " \n", + " Decreased circulating catecholamine concentration\n", + " definition of HP:6000482 (Decreased circulating catecholamine concentration)\n", + " \n", + " \n", + " Concentration of a catecholamine in the blood circulation below the lower limit of normal.\n", + " definition of HP:6000482 (Decreased circulating catecholamine concentration)\n", + " \n", + " \n", + " Cardiac conduction abnormality\n", + " definition of HP:0031546 (Cardiac conduction abnormality)\n", + " \n", + " \n", + " Any anomaly of the progression of electrical impulses through the heart.\n", + " definition of HP:0031546 (Cardiac conduction abnormality)\n", + " \n", + " \n", + " #Abnormality of cardiac conduction #Abnormality of cardiac conduction system #Cardiac conduction abnormalities #Cardiac conduction defects #Heart conduction disorder\n", + " definition of HP:0031546 (Cardiac conduction abnormality)\n", + " \n", + " \n", + " Metatarsal osteolysis\n", + " definition of HP:0001473 (Metatarsal osteolysis)\n", + " \n", + " \n", + " Osteolysis involving metatarsal bones.\n", + " definition of HP:0001473 (Metatarsal osteolysis)\n", + " \n", + " \n", + " #Osteolysis involving metatarsal bones\n", + " definition of HP:0001473 (Metatarsal osteolysis)\n", + " \n", + " \n", + " Curved 2nd toe phalanx\n", + " definition of HP:0010350 (Curved 2nd toe phalanx)\n", + " \n", + " \n", + " A deviation from the normal straight form of one or more phalanges of the second toe.\n", + " definition of HP:0010350 (Curved 2nd toe phalanx)\n", + " \n", + " \n", + " #Curved bones of the 2nd toe #Curved phalanges of the 2nd toe\n", + " definition of HP:0010350 (Curved 2nd toe phalanx)\n", + " \n", + " \n", + " Decreased intestinal transit time\n", + " definition of HP:0030897 (Decreased intestinal transit time)\n", + " \n", + " \n", + " A reduction in the length of time required for food to pass through the intestines.\n", + " definition of HP:0030897 (Decreased intestinal transit time)\n", + " \n", + " \n", + " Cerebral cortical atrophy\n", + " definition of HP:0002120 (Cerebral cortical atrophy)\n", + " \n", + " \n", + " Atrophy of the cortex of the cerebrum.\n", + " definition of HP:0002120 (Cerebral cortical atrophy)\n", + " \n", + " \n", + " #Cerebral cortex atrophy #Cortical atrophy #Decrease in size of the outer layer of the brain due to loss of brain cells\n", + " definition of HP:0002120 (Cerebral cortical atrophy)\n", + " \n", + " \n", + " Periglomerular fibrosis\n", + " definition of HP:0032417 (Periglomerular fibrosis)\n", + " \n", + " \n", + " Circumferential fibrosis in the interstitium surrounding Bowman's capsule\n", + " definition of HP:0032417 (Periglomerular fibrosis)\n", + " \n", + " \n", + " #Periglomerular fibrotic thickening\n", + " definition of HP:0032417 (Periglomerular fibrosis)\n", + " \n", + " \n", + " Ground-glass opacification\n", + " definition of HP:0025179 (Ground-glass opacification)\n", + " \n", + " \n", + " On chest radiographs, ground-glass opacity appears as an area of hazy increased lung opacity, usually extensive, within which margins of pulmonary vessels may be indistinct. On CT scans, it appears as hazy increased opacity of lung, with preservation of bronchial and vascular margins. It is caused by partial filling of airspaces, interstitial thickening (due to fluid, cells, and/or fibrosis), partial collapse of alveoli, increased capillary blood volume, or a combination of these, the common factor being the partial displacement of air. Ground-glass opacity is less opaque than consolidation, in which bronchovascular margins are obscured.\n", + " definition of HP:0025179 (Ground-glass opacification)\n", + " \n", + " \n", + " #GGO #Ground glass opacities\n", + " definition of HP:0025179 (Ground-glass opacification)\n", + " \n", + " \n", + " Delayed upper limb epiphyseal ossification\n", + " definition of HP:0003840 (Delayed upper limb epiphyseal ossification)\n", + " \n", + " \n", + " A delay in the process of formation and maturation of the epiphysis of one or more long bones of the upper limbs.\n", + " definition of HP:0003840 (Delayed upper limb epiphyseal ossification)\n", + " \n", + " \n", + " Abnormal size of nasopharyngeal adenoids\n", + " definition of HP:0040257 (Abnormal size of nasopharyngeal adenoids)\n", + " \n", + " \n", + " A deviation in the size of nasopharyngeal adenoids.\n", + " definition of HP:0040257 (Abnormal size of nasopharyngeal adenoids)\n", + " \n", + " \n", + " Hypoplasia of deltoid muscle\n", + " definition of HP:0030241 (Hypoplasia of deltoid muscle)\n", + " \n", + " \n", + " Underdevelopment of the deltoid muscle.\n", + " definition of HP:0030241 (Hypoplasia of deltoid muscle)\n", + " \n", + " \n", + " #Deltoid muscle hypoplasia\n", + " definition of HP:0030241 (Hypoplasia of deltoid muscle)\n", + " \n", + " \n", + " Abnormal pattern of respiration\n", + " definition of HP:0002793 (Abnormal pattern of respiration)\n", + " \n", + " \n", + " An anomaly of the rhythm or depth of breathing.\n", + " definition of HP:0002793 (Abnormal pattern of respiration)\n", + " \n", + " \n", + " #Abnormal pattern of respiration #Abnormal respiratory patterns #Unusual breathing patterns\n", + " definition of HP:0002793 (Abnormal pattern of respiration)\n", + " \n", + " \n", + " Positive blood infectious agent test\n", + " definition of HP:0430150 (Positive blood infectious agent test)\n", + " \n", + " \n", + " Any kind of test for an infectious agent in the blood circulation positive.\n", + " definition of HP:0430150 (Positive blood infectious agent test)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the corpus callosum\n", + " definition of HP:0007370 (Aplasia/Hypoplasia of the corpus callosum)\n", + " \n", + " \n", + " Absence or underdevelopment of the corpus callosum.\n", + " definition of HP:0007370 (Aplasia/Hypoplasia of the corpus callosum)\n", + " \n", + " \n", + " #Absent/hypoplastic corpus callosum #Agenesis/hypoplastic corpus callosum #Complete or partial absence of the corpus callosum #Hypoplasia or absence of the corpus callosum #Hypoplastic or absent corpus callosum\n", + " definition of HP:0007370 (Aplasia/Hypoplasia of the corpus callosum)\n", + " \n", + " \n", + " Abnormal capillary physiology\n", + " definition of HP:0025018 (Abnormal capillary physiology)\n", + " \n", + " \n", + " A functional anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues.\n", + " definition of HP:0025018 (Abnormal capillary physiology)\n", + " \n", + " \n", + " Isolation of the left subclavian artery\n", + " definition of HP:0031633 (Isolation of the left subclavian artery)\n", + " \n", + " \n", + " The loss of continuity between the left subclavian artery and the aorta, with persistent connection to the homolateral pulmonary artery through the patent (PDA) or nonpatent ductus arteriosus.\n", + " definition of HP:0031633 (Isolation of the left subclavian artery)\n", + " \n", + " \n", + " In situ pulmonary artery thrombosis\n", + " definition of HP:0033577 (In situ pulmonary artery thrombosis)\n", + " \n", + " \n", + " Localized thrombosis in pulmonary arteries frequently found in patients with idiopathic and hereditary pulmonary arterial hypertension and pulmonary arterial hypertension associated with congenital heart disease.\n", + " definition of HP:0033577 (In situ pulmonary artery thrombosis)\n", + " \n", + " \n", + " Abnormal circulating glutamine family amino acid concentration\n", + " definition of HP:0010902 (Abnormal circulating glutamine family amino acid concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of a glutamine family amino acid in the blood circulation.\n", + " definition of HP:0010902 (Abnormal circulating glutamine family amino acid concentration)\n", + " \n", + " \n", + " Cytokine storm\n", + " definition of HP:0033041 (Cytokine storm)\n", + " \n", + " \n", + " Excessive or uncontrolled release of proinflammatory cytokines.\n", + " definition of HP:0033041 (Cytokine storm)\n", + " \n", + " \n", + " #Hypercytokinemia\n", + " definition of HP:0033041 (Cytokine storm)\n", + " \n", + " \n", + " Iris coloboma\n", + " definition of HP:0000612 (Iris coloboma)\n", + " \n", + " \n", + " A coloboma of the iris.\n", + " definition of HP:0000612 (Iris coloboma)\n", + " \n", + " \n", + " #Cat eye #Coloboma of iris #Coloboma of the iris #Keyhole iris\n", + " definition of HP:0000612 (Iris coloboma)\n", + " \n", + " \n", + " Increased circulating ferritin concentration\n", + " definition of HP:0003281 (Increased circulating ferritin concentration)\n", + " \n", + " \n", + " Increased concentration of ferritin in the blood circulation.\n", + " definition of HP:0003281 (Increased circulating ferritin concentration)\n", + " \n", + " \n", + " #Elevated serum ferritin #High ferritin level #Hyperferritinaemia #Hyperferritinemia #Increased ferritin #Increased plasma ferritin #Increased serum ferritin level\n", + " definition of HP:0003281 (Increased circulating ferritin concentration)\n", + " \n", + " \n", + " Distal symphalangism\n", + " definition of HP:0100263 (Distal symphalangism)\n", + " \n", + " \n", + " #Symphalangism, distal\n", + " definition of HP:0100263 (Distal symphalangism)\n", + " \n", + " \n", + " Abnormal magnesium concentration\n", + " definition of HP:0004921 (Abnormal magnesium concentration)\n", + " \n", + " \n", + " An abnormality of magnesium ion homeostasis.\n", + " definition of HP:0004921 (Abnormal magnesium concentration)\n", + " \n", + " \n", + " #Abnormal Mg concentration #Abnormality of magnesium homeostasis\n", + " definition of HP:0004921 (Abnormal magnesium concentration)\n", + " \n", + " \n", + " Increased circulating antimullerian hormone concentration\n", + " definition of HP:0031102 (Increased circulating antimullerian hormone concentration)\n", + " \n", + " \n", + " An elevation above the normal range of the antimullerian hormone in the circulation.\n", + " definition of HP:0031102 (Increased circulating antimullerian hormone concentration)\n", + " \n", + " \n", + " #Increased antimullerian hormone level #Increased plasma AMH\n", + " definition of HP:0031102 (Increased circulating antimullerian hormone concentration)\n", + " \n", + " \n", + " Tooth abscess\n", + " definition of HP:0030757 (Tooth abscess)\n", + " \n", + " \n", + " A pocket of pus located within a region of a tooth.\n", + " definition of HP:0030757 (Tooth abscess)\n", + " \n", + " \n", + " #Dental abscess #Dentoalveolar abscess\n", + " definition of HP:0030757 (Tooth abscess)\n", + " \n", + " \n", + " Positive meconium barbiturate test\n", + " definition of HP:0410200 (Positive meconium barbiturate test)\n", + " \n", + " \n", + " Detection of barbiturate metabolites such as phenobarbital in meconium.\n", + " definition of HP:0410200 (Positive meconium barbiturate test)\n", + " \n", + " \n", + " Decreased resting energy expenditure\n", + " definition of HP:0012340 (Decreased resting energy expenditure)\n", + " \n", + " \n", + " A reduction in the number of calories used per unit time.\n", + " definition of HP:0012340 (Decreased resting energy expenditure)\n", + " \n", + " \n", + " Elevated circulating acylcarnitine concentration\n", + " definition of HP:0045045 (Elevated circulating acylcarnitine concentration)\n", + " \n", + " \n", + " Concentration of acylcarnitine in the blood circulation above the upper limit of normal.\n", + " definition of HP:0045045 (Elevated circulating acylcarnitine concentration)\n", + " \n", + " \n", + " #Elevated plasma acylcarnitine levels\n", + " definition of HP:0045045 (Elevated circulating acylcarnitine concentration)\n", + " \n", + " \n", + " Recent history of caustic substance ingestion\n", + " definition of HP:6000223 (Recent history of caustic substance ingestion)\n", + " \n", + " \n", + " Medical history of a recent ingestion of a caustic substance, i.e., a highly acidic or alkaline chemicals that can cause severe burns to the mouth and digestive tract when swallowed.\n", + " definition of HP:6000223 (Recent history of caustic substance ingestion)\n", + " \n", + " \n", + " Generalized neonatal hypotonia\n", + " definition of HP:0008935 (Generalized neonatal hypotonia)\n", + " \n", + " \n", + " Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period and affecting the entire musculature.\n", + " definition of HP:0008935 (Generalized neonatal hypotonia)\n", + " \n", + " \n", + " #Generalised low muscle tone in neonate #Generalised neonatal hypotonia #Generalized low muscle tone in neonate #Hypotonia, neonatal, generalised #Hypotonia, neonatal, generalized\n", + " definition of HP:0008935 (Generalized neonatal hypotonia)\n", + " \n", + " \n", + " Recurrent thromboembolism\n", + " definition of HP:0004831 (Recurrent thromboembolism)\n", + " \n", + " \n", + " Repeated episodes of obstruction of blood flow due to an embolus, i.e., blood clot that has traveled from its point of origin within the blood stream.\n", + " definition of HP:0004831 (Recurrent thromboembolism)\n", + " \n", + " \n", + " Long eyebrows\n", + " definition of HP:0004523 (Long eyebrows)\n", + " \n", + " \n", + " Increased length of the hairs of the eyebrows.\n", + " definition of HP:0004523 (Long eyebrows)\n", + " \n", + " \n", + " #Elongated eyebrow #Increased horizontal length of eyebrow #Increased transverse length of eyebrow #Long eyebrows\n", + " definition of HP:0004523 (Long eyebrows)\n", + " \n", + " \n", + " Stippling of the epiphysis of the distal phalanx of the 4th finger\n", + " definition of HP:0009259 (Stippling of the epiphysis of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 4th finger.\n", + " definition of HP:0009259 (Stippling of the epiphysis of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " #Speckled calcifications in the end part of the outermost bone of the ring finger\n", + " definition of HP:0009259 (Stippling of the epiphysis of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " Hypocalcification of dental enamel\n", + " definition of HP:0011084 (Hypocalcification of dental enamel)\n", + " \n", + " \n", + " A form of hypomineralization of enamel characterized by reduced calcification.\n", + " definition of HP:0011084 (Hypocalcification of dental enamel)\n", + " \n", + " \n", + " #Decreased enamel calcification #Poorly calcified tooth enamel\n", + " definition of HP:0011084 (Hypocalcification of dental enamel)\n", + " \n", + " \n", + " Hyperlysinemia\n", + " definition of HP:0002161 (Hyperlysinemia)\n", + " \n", + " \n", + " An increased concentration of lysine in the blood.\n", + " definition of HP:0002161 (Hyperlysinemia)\n", + " \n", + " \n", + " #Elevated blood lysine\n", + " definition of HP:0002161 (Hyperlysinemia)\n", + " \n", + " \n", + " Large pelvis bone\n", + " definition of HP:0010779 (Large pelvis bone)\n", + " \n", + " \n", + " The presence of an abnormally large pelvis.\n", + " definition of HP:0010779 (Large pelvis bone)\n", + " \n", + " \n", + " #Large pelvis bone\n", + " definition of HP:0010779 (Large pelvis bone)\n", + " \n", + " \n", + " Childhood onset short-limb short stature\n", + " definition of HP:0011405 (Childhood onset short-limb short stature)\n", + " \n", + " \n", + " #Short-limb dwarfism identifiable during childhood\n", + " definition of HP:0011405 (Childhood onset short-limb short stature)\n", + " \n", + " \n", + " Malignant genitourinary tract tumor\n", + " definition of HP:0006758 (Malignant genitourinary tract tumor)\n", + " \n", + " \n", + " The presence of a malignant neoplasm of the genital system.\n", + " definition of HP:0006758 (Malignant genitourinary tract tumor)\n", + " \n", + " \n", + " #Malignant genitourinary tract tumour #Malignant GU tract tumor #Malignant GU tract tumour\n", + " definition of HP:0006758 (Malignant genitourinary tract tumor)\n", + " \n", + " \n", + " Abnormal circulating unsaturated fatty acid concentration\n", + " definition of HP:0011022 (Abnormal circulating unsaturated fatty acid concentration)\n", + " \n", + " \n", + " A deviation from the normal concentration of an unsaturated fatty acid in the blood circulation.\n", + " definition of HP:0011022 (Abnormal circulating unsaturated fatty acid concentration)\n", + " \n", + " \n", + " Decreased activity of mitochondrial ATP synthase complex\n", + " definition of HP:0011925 (Decreased activity of mitochondrial ATP synthase complex)\n", + " \n", + " \n", + " A reduction in the activity of the mitochondrial proton-transporting ATP synthase complex, which makes ATP via oxidative phosphorylation, and is sometimes described as Complex V of the electron transport chain.\n", + " definition of HP:0011925 (Decreased activity of mitochondrial ATP synthase complex)\n", + " \n", + " \n", + " #Decreased activity of mitochondrial complex V #Mitochondrial complex V deficiency\n", + " definition of HP:0011925 (Decreased activity of mitochondrial ATP synthase complex)\n", + " \n", + " \n", + " Abnormality of vitamin B12 metabolism\n", + " definition of HP:0004341 (Abnormality of vitamin B12 metabolism)\n", + " \n", + " \n", + " #Abnormality of the vitamin B12 metabolism\n", + " definition of HP:0004341 (Abnormality of vitamin B12 metabolism)\n", + " \n", + " \n", + " Stippling of the epiphyses of the 5th toe\n", + " definition of HP:0100086 (Stippling of the epiphyses of the 5th toe)\n", + " \n", + " \n", + " The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th toe.\n", + " definition of HP:0100086 (Stippling of the epiphyses of the 5th toe)\n", + " \n", + " \n", + " #Speckled calcifications in the end part of the little toe bone #Speckled calcifications in the end part of the pinkie toe bone #Speckled calcifications in the end part of the pinky toe bone\n", + " definition of HP:0100086 (Stippling of the epiphyses of the 5th toe)\n", + " \n", + " \n", + " Increased proportion of CD4-positive T cells\n", + " definition of HP:0032219 (Increased proportion of CD4-positive T cells)\n", + " \n", + " \n", + " An elevation in the proportion of CD4-positive T cells relative to the total number of T cells.\n", + " definition of HP:0032219 (Increased proportion of CD4-positive T cells)\n", + " \n", + " \n", + " #Elevated proportion of CD4-positive T cells #Increased proportion of CD4+ T cells #Increased proportion of CD4-positive, alpha-beta T cells\n", + " definition of HP:0032219 (Increased proportion of CD4-positive T cells)\n", + " \n", + " \n", + " Internal carotid artery dissection\n", + " definition of HP:0012159 (Internal carotid artery dissection)\n", + " \n", + " \n", + " A separation (dissection) of the layers of the internal carotid artery wall.\n", + " definition of HP:0012159 (Internal carotid artery dissection)\n", + " \n", + " \n", + " Poor conversational reciprocity\n", + " definition of HP:4000092 (Poor conversational reciprocity)\n", + " \n", + " \n", + " Reduced use of reciprocal (back and forth) conversation, as compared to what would be expected for language level.\n", + " definition of HP:4000092 (Poor conversational reciprocity)\n", + " \n", + " \n", + " #Failure of normal back-and-forth conversation\n", + " definition of HP:4000092 (Poor conversational reciprocity)\n", + " \n", + " \n", + " Paracentral scotoma\n", + " definition of HP:0030528 (Paracentral scotoma)\n", + " \n", + " \n", + " Absent epiphyses of the 3rd finger\n", + " definition of HP:0009410 (Absent epiphyses of the 3rd finger)\n", + " \n", + " \n", + " Absence of the epiphyses of the 3rd finger.\n", + " definition of HP:0009410 (Absent epiphyses of the 3rd finger)\n", + " \n", + " \n", + " #Absent end part of middle finger bone\n", + " definition of HP:0009410 (Absent epiphyses of the 3rd finger)\n", + " \n", + " \n", + " Fatigable weakness of chewing muscles\n", + " definition of HP:0030193 (Fatigable weakness of chewing muscles)\n", + " \n", + " \n", + " A type of weakness of the muscles involved in chewing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.\n", + " definition of HP:0030193 (Fatigable weakness of chewing muscles)\n", + " \n", + " \n", + " Abnormal skin morphology of the palm\n", + " definition of HP:0040211 (Abnormal skin morphology of the palm)\n", + " \n", + " \n", + " An abnormality of the skin of the palm, that is, the skin of the front of the hand.\n", + " definition of HP:0040211 (Abnormal skin morphology of the palm)\n", + " \n", + " \n", + " Tall lumbar vertebral bodies\n", + " definition of HP:0008421 (Tall lumbar vertebral bodies)\n", + " \n", + " \n", + " Abnormal vascular physiology\n", + " definition of HP:0030163 (Abnormal vascular physiology)\n", + " \n", + " \n", + " Abnormality of vascular function.\n", + " definition of HP:0030163 (Abnormal vascular physiology)\n", + " \n", + " \n", + " Ocular cystine crystal deposition\n", + " definition of HP:6000955 (Ocular cystine crystal deposition)\n", + " \n", + " \n", + " Accumulation of cystine crsytals in the eye. Patients present with crystal accumulation affecting the cornea and conjunctiva, but crystals can also be deposited in the iris, ciliary body, choroid and retinal pigment epithelium (RPE), and lens capsule. Corneal crystal deposition starts in infancy in the anterior periphery of the cornea, and progresses centrally and posteriorly. The crystals, which have a fine, uniform needle-shaped structure, are diffusely distributed within the corneal tissues.\n", + " definition of HP:6000955 (Ocular cystine crystal deposition)\n", + " \n", + " \n", + " Collier's sign\n", + " definition of HP:0500045 (Collier's sign)\n", + " \n", + " \n", + " A unilateral or bilateral eyelid retraction due to midbrain lesions.\n", + " definition of HP:0500045 (Collier's sign)\n", + " \n", + " \n", + " Positive infectious agent test\n", + " definition of HP:0430030 (Positive infectious agent test)\n", + " \n", + " \n", + " Any kind of test for an infectious agent in a specimen positive.\n", + " definition of HP:0430030 (Positive infectious agent test)\n", + " \n", + " \n", + " Colonic inertia\n", + " definition of HP:0012423 (Colonic inertia)\n", + " \n", + " \n", + " The inability of the colon to modify stool to an acceptable consistency and move the stool from the cecum to the rectosigmoid area at least once every three days.\n", + " definition of HP:0012423 (Colonic inertia)\n", + " \n", + " \n", + " Facial hirsutism\n", + " definition of HP:0009937 (Facial hirsutism)\n", + " \n", + " \n", + " Excess facial hair.\n", + " definition of HP:0009937 (Facial hirsutism)\n", + " \n", + " \n", + " Abnormal muscle tissue metabolite concentration\n", + " definition of HP:0034370 (Abnormal muscle tissue metabolite concentration)\n", + " \n", + " \n", + " Hypoplasia of the lesser trochanter\n", + " definition of HP:0008801 (Hypoplasia of the lesser trochanter)\n", + " \n", + " \n", + " Underdevelopment of the lesser trochanter.\n", + " definition of HP:0008801 (Hypoplasia of the lesser trochanter)\n", + " \n", + " \n", + " #Lesser trochanter hypoplasia\n", + " definition of HP:0008801 (Hypoplasia of the lesser trochanter)\n", + " \n", + " \n", + " First dorsal interossei muscle atrophy\n", + " definition of HP:0003426 (First dorsal interossei muscle atrophy)\n", + " \n", + " \n", + " Myelopathy\n", + " definition of HP:0002196 (Myelopathy)\n", + " \n", + " \n", + " Metatarsal fracture\n", + " definition of HP:0041162 (Metatarsal fracture)\n", + " \n", + " \n", + " A partial or complete breakage of a metatarsal bone.\n", + " definition of HP:0041162 (Metatarsal fracture)\n", + " \n", + " \n", + " #Broken metatarsal #Broken metatarsal bone\n", + " definition of HP:0041162 (Metatarsal fracture)\n", + " \n", + " \n", + " Ivory epiphysis of the distal phalanx of the 4th finger\n", + " definition of HP:0009256 (Ivory epiphysis of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " Sclerosis of the epiphysis of the distal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays.\n", + " definition of HP:0009256 (Ivory epiphysis of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " #Increased bone density of end part of the outermost ring finger bone\n", + " definition of HP:0009256 (Ivory epiphysis of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " Respiratory insufficiency due to defective ciliary clearance\n", + " definition of HP:0200073 (Respiratory insufficiency due to defective ciliary clearance)\n", + " \n", + " \n", + " Anti-Ri antibody\n", + " definition of HP:5000030 (Anti-Ri antibody)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ri, an antineuronal antibody.\n", + " definition of HP:5000030 (Anti-Ri antibody)\n", + " \n", + " \n", + " #Anti-ANNA-2 antibody\n", + " definition of HP:5000030 (Anti-Ri antibody)\n", + " \n", + " \n", + " Aplasia of the 4th finger\n", + " definition of HP:0009281 (Aplasia of the 4th finger)\n", + " \n", + " \n", + " Absent 4th finger.\n", + " definition of HP:0009281 (Aplasia of the 4th finger)\n", + " \n", + " \n", + " #Absent ring finger\n", + " definition of HP:0009281 (Aplasia of the 4th finger)\n", + " \n", + " \n", + " Abnormal dermatoglyphics\n", + " definition of HP:0007477 (Abnormal dermatoglyphics)\n", + " \n", + " \n", + " An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles.\n", + " definition of HP:0007477 (Abnormal dermatoglyphics)\n", + " \n", + " \n", + " #Abnormal fingerprints #Dermatoglyphic abnormalities\n", + " definition of HP:0007477 (Abnormal dermatoglyphics)\n", + " \n", + " \n", + " Ultra-low vision\n", + " definition of HP:0032123 (Ultra-low vision)\n", + " \n", + " \n", + " Best corrected visual acuity worse than 1.90 logMAR (roughly 20/1590).\n", + " definition of HP:0032123 (Ultra-low vision)\n", + " \n", + " \n", + " Prolonged bleeding after dental extraction\n", + " definition of HP:0006298 (Prolonged bleeding after dental extraction)\n", + " \n", + " \n", + " Prolonged bleeding post dental extraction sufficient to require medical intervention.\n", + " definition of HP:0006298 (Prolonged bleeding after dental extraction)\n", + " \n", + " \n", + " #Prolonged bleeding after dental extraction\n", + " definition of HP:0006298 (Prolonged bleeding after dental extraction)\n", + " \n", + " \n", + " Irregular lymph-node lymphocyte nuclei\n", + " definition of HP:0020279 (Irregular lymph-node lymphocyte nuclei)\n", + " \n", + " \n", + " Lymph node lymphocyte nuclei that are more irregular than the typical round to slightly oval shapes of the majority of lymph node lymphocytes.\n", + " definition of HP:0020279 (Irregular lymph-node lymphocyte nuclei)\n", + " \n", + " \n", + " Regional left ventricular wall motion abnormality\n", + " definition of HP:0012667 (Regional left ventricular wall motion abnormality)\n", + " \n", + " \n", + " An abnormal motion of a segment of the left ventricle during the cardiac cycle.\n", + " definition of HP:0012667 (Regional left ventricular wall motion abnormality)\n", + " \n", + " \n", + " Nephrosclerosis\n", + " definition of HP:0009741 (Nephrosclerosis)\n", + " \n", + " \n", + " Nephrosclerosis refers to thickening or scarring (\\"sclerosis\\") resulting from damage to the renal arterioles, also referred to as arteriosclerosis of the kidney arteries.\n", + " definition of HP:0009741 (Nephrosclerosis)\n", + " \n", + " \n", + " #Scarring of kidney arteries #Thickening of kidney artiries\n", + " definition of HP:0009741 (Nephrosclerosis)\n", + " \n", + " \n", + " Ependymoma\n", + " definition of HP:0002888 (Ependymoma)\n", + " \n", + " \n", + " The presence of an ependymoma of the central nervous system.\n", + " definition of HP:0002888 (Ependymoma)\n", + " \n", + " \n", + " Decreased circulating progesterone\n", + " definition of HP:0008233 (Decreased circulating progesterone)\n", + " \n", + " \n", + " An reduced concentration of progesterone in the blood.\n", + " definition of HP:0008233 (Decreased circulating progesterone)\n", + " \n", + " \n", + " #Decreased serum progesterone\n", + " definition of HP:0008233 (Decreased circulating progesterone)\n", + " \n", + " \n", + " Xanthogranulomatous pyelonephritis\n", + " definition of HP:0033761 (Xanthogranulomatous pyelonephritis)\n", + " \n", + " \n", + " Xanthogranulomatous pyelonephritis is a granulomatous inflammatory infiltrate composed of neutrophils, lymphocytes, plasma cells, xanthomatous histiocytes, and multinucleated giant cells.\n", + " definition of HP:0033761 (Xanthogranulomatous pyelonephritis)\n", + " \n", + " \n", + " Decreased circulating renin concentration\n", + " definition of HP:0003351 (Decreased circulating renin concentration)\n", + " \n", + " \n", + " An decreased level of renin in the blood.\n", + " definition of HP:0003351 (Decreased circulating renin concentration)\n", + " \n", + " \n", + " #Decreased circulating renin level #Decreased plasma renin activity #Low plasma renin activity #Suppressed plasma renin activity\n", + " definition of HP:0003351 (Decreased circulating renin concentration)\n", + " \n", + " \n", + " Abnormal inner ear nerve morphology\n", + " definition of HP:0011391 (Abnormal inner ear nerve morphology)\n", + " \n", + " \n", + " #Morphological abnormality of the nerves of the inner ear\n", + " definition of HP:0011391 (Abnormal inner ear nerve morphology)\n", + " \n", + " \n", + " Microform bilateral cleft lip\n", + " definition of HP:5201013 (Microform bilateral cleft lip)\n", + " \n", + " \n", + " Bilateral cleft lip in which the cleft lip on both sides are microform, i.e. a notch, groove, or scar without noticeable rupture of the lip.\n", + " definition of HP:5201013 (Microform bilateral cleft lip)\n", + " \n", + " \n", + " Curved distal phalanx of the 2nd toe\n", + " definition of HP:0010416 (Curved distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " A deviation from the normal straight form of the distal phalanx of the 2nd toe.\n", + " definition of HP:0010416 (Curved distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Curved outermost bone of the 2nd toe\n", + " definition of HP:0010416 (Curved distal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Synovial granuloma\n", + " definition of HP:0034647 (Synovial granuloma)\n", + " \n", + " \n", + " An aggregation of macrophages (forming in response to chronic inflammation) localized in the lining of a joint (synovium).\n", + " definition of HP:0034647 (Synovial granuloma)\n", + " \n", + " \n", + " Neck joint contracture\n", + " definition of HP:0005997 (Neck joint contracture)\n", + " \n", + " \n", + " #Neck joint contracture #Restricted neck mobility due to contractures #Restricted neck movement due to contractures\n", + " definition of HP:0005997 (Neck joint contracture)\n", + " \n", + " \n", + " Reduced epidermal collagen IV alpha 5 chain staining\n", + " definition of HP:6001026 (Reduced epidermal collagen IV alpha 5 chain staining)\n", + " \n", + " \n", + " Diminished or absent collagen alpha5(IV) chain staining pattern in the epidermal basement membrane.\n", + " definition of HP:6001026 (Reduced epidermal collagen IV alpha 5 chain staining)\n", + " \n", + " \n", + " Cardiac lipoma\n", + " definition of HP:0034833 (Cardiac lipoma)\n", + " \n", + " \n", + " A lipoma that is located within a the heart.\n", + " definition of HP:0034833 (Cardiac lipoma)\n", + " \n", + " \n", + " Progressive massive fibrosis\n", + " definition of HP:0033706 (Progressive massive fibrosis)\n", + " \n", + " \n", + " This condition is caused by slow-growing conglomeration of dust particles and collagen deposition in individuals (mostly coal workers) heavily exposed to inorganic dust. Progressive massive fibrosis manifests as masslike lesions, usually bilateral and in the upper lobes. Background nodular opacities reflect accompanying pneumoconiosis, with or without emphysematous destruction adjacent to the massive fibrosis. Lesions similar to progressive massive fibrosis sometimes occur in other conditions, such as sarcoidosis and talcosis.\n", + " definition of HP:0033706 (Progressive massive fibrosis)\n", + " \n", + " \n", + " Aplasia of the musculature\n", + " definition of HP:0100854 (Aplasia of the musculature)\n", + " \n", + " \n", + " Absence of the musculature.\n", + " definition of HP:0100854 (Aplasia of the musculature)\n", + " \n", + " \n", + " #Absent musculature\n", + " definition of HP:0100854 (Aplasia of the musculature)\n", + " \n", + " \n", + " Reduced circulating cholinesterase activity\n", + " definition of HP:0020175 (Reduced circulating cholinesterase activity)\n", + " \n", + " \n", + " Activity or concentration of cholinesterase in the blood circulation below the lower limit of normal.\n", + " definition of HP:0020175 (Reduced circulating cholinesterase activity)\n", + " \n", + " \n", + " #Reduced cholinesterase level\n", + " definition of HP:0020175 (Reduced circulating cholinesterase activity)\n", + " \n", + " \n", + " New medication added in recent weeks\n", + " definition of HP:6000706 (New medication added in recent weeks)\n", + " \n", + " \n", + " Medical history of starting a new medication recently.\n", + " definition of HP:6000706 (New medication added in recent weeks)\n", + " \n", + " \n", + " Chondrocalcinosis\n", + " definition of HP:0000934 (Chondrocalcinosis)\n", + " \n", + " \n", + " Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) .\n", + " definition of HP:0000934 (Chondrocalcinosis)\n", + " \n", + " \n", + " #Calcium deposits in joints\n", + " definition of HP:0000934 (Chondrocalcinosis)\n", + " \n", + " \n", + " Severe influenza infection\n", + " definition of HP:0034249 (Severe influenza infection)\n", + " \n", + " \n", + " An unusually severe infection by an influenza virus.\n", + " definition of HP:0034249 (Severe influenza infection)\n", + " \n", + " \n", + " Fractured epiphysis of middle phalanx of manus\n", + " definition of HP:0041209 (Fractured epiphysis of middle phalanx of manus)\n", + " \n", + " \n", + " A partial or complete breakage of the epiphysis of middle phalanx of manus.\n", + " definition of HP:0041209 (Fractured epiphysis of middle phalanx of manus)\n", + " \n", + " \n", + " #bone epiphysis of middle phalanx of manus\n", + " definition of HP:0041209 (Fractured epiphysis of middle phalanx of manus)\n", + " \n", + " \n", + " Prune belly\n", + " definition of HP:0004392 (Prune belly)\n", + " \n", + " \n", + " A kind of congenital defect of the anterior abdominal wall in which the intestines are evident through the thin, lax, and protruding abdominal wall in affected infants.\n", + " definition of HP:0004392 (Prune belly)\n", + " \n", + " \n", + " #Prune belly\n", + " definition of HP:0004392 (Prune belly)\n", + " \n", + " \n", + " Abnormal axial skeleton morphology\n", + " definition of HP:0009121 (Abnormal axial skeleton morphology)\n", + " \n", + " \n", + " An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum.\n", + " definition of HP:0009121 (Abnormal axial skeleton morphology)\n", + " \n", + " \n", + " Curved phalanges of the hand\n", + " definition of HP:0009770 (Curved phalanges of the hand)\n", + " \n", + " \n", + " #Curved hand bones\n", + " definition of HP:0009770 (Curved phalanges of the hand)\n", + " \n", + " \n", + " Distal muscle weakness\n", + " definition of HP:0002460 (Distal muscle weakness)\n", + " \n", + " \n", + " Reduced strength of the musculature of the distal extremities.\n", + " definition of HP:0002460 (Distal muscle weakness)\n", + " \n", + " \n", + " #Distal limb muscle weakness #Distal limb weakness #Distal muscular weakness #Distal paresis #Muscle weakness, distal #Muscle weakness, distal limbs, due to neuronopathy #Weakness of distal muscles #Weakness of outermost muscles\n", + " definition of HP:0002460 (Distal muscle weakness)\n", + " \n", + " \n", + " Abnormal ventricular filling\n", + " definition of HP:0006683 (Abnormal ventricular filling)\n", + " \n", + " \n", + " An abnormality of filling of a ventricle with blood during diastole.\n", + " definition of HP:0006683 (Abnormal ventricular filling)\n", + " \n", + " \n", + " Anti-PM-Scl75 antibody positivity\n", + " definition of HP:0034086 (Anti-PM-Scl75 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against PM-Scl75.\n", + " definition of HP:0034086 (Anti-PM-Scl75 antibody positivity)\n", + " \n", + " \n", + " Positive Mazzotti test\n", + " definition of HP:6000801 (Positive Mazzotti test)\n", + " \n", + " \n", + " Locally applied 1.6 percent diethylcarbamazine citrate in Nivea lotion can be used as a diagnostic test for onchocerciasis. Papular reactions are considered as positive test results.\n", + " definition of HP:6000801 (Positive Mazzotti test)\n", + " \n", + " \n", + " Abnormal thoracic duct morphology\n", + " definition of HP:0031278 (Abnormal thoracic duct morphology)\n", + " \n", + " \n", + " Any structural anomaly of the thoracic duct.\n", + " definition of HP:0031278 (Abnormal thoracic duct morphology)\n", + " \n", + " \n", + " Laryngeal web\n", + " definition of HP:0005950 (Laryngeal web)\n", + " \n", + " \n", + " A membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords.\n", + " definition of HP:0005950 (Laryngeal web)\n", + " \n", + " \n", + " #Laryngeal webs #Partial laryngeal atresia\n", + " definition of HP:0005950 (Laryngeal web)\n", + " \n", + " \n", + " Dilatation of the renal pelvis\n", + " definition of HP:0010946 (Dilatation of the renal pelvis)\n", + " \n", + " \n", + " The presence of dilatation of the renal pelvis.\n", + " definition of HP:0010946 (Dilatation of the renal pelvis)\n", + " \n", + " \n", + " Abnormality of the maxillary sinus\n", + " definition of HP:0430023 (Abnormality of the maxillary sinus)\n", + " \n", + " \n", + " An abnormality of the maxillary sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The maxillary sinus is located within the skeleton of the midface, lateral to the nasal cavity.\n", + " definition of HP:0430023 (Abnormality of the maxillary sinus)\n", + " \n", + " \n", + " #Abnormality of the antrum of Highmore #Abnormality of the maxillary antrum #Abnormality of the upper jaw sinus\n", + " definition of HP:0430023 (Abnormality of the maxillary sinus)\n", + " \n", + " \n", + " Absent epiphysis of the proximal phalanx of the 2nd toe\n", + " definition of HP:0100122 (Absent epiphysis of the proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Absent end part of the innermost bone of the 2nd toe\n", + " definition of HP:0100122 (Absent epiphysis of the proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Bullet-shaped phalanges of the hand\n", + " definition of HP:0009769 (Bullet-shaped phalanges of the hand)\n", + " \n", + " \n", + " The presence of short and wide phalanges which taper distally (\\"bullet shaped\\").\n", + " definition of HP:0009769 (Bullet-shaped phalanges of the hand)\n", + " \n", + " \n", + " #Bullet-shaped hand bones #Bullet-shaped phalanges of the hands #Conical bullet-shaped distal ends of phalanges\n", + " definition of HP:0009769 (Bullet-shaped phalanges of the hand)\n", + " \n", + " \n", + " Complete duplication of the distal phalanx of the 4th finger\n", + " definition of HP:0009978 (Complete duplication of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " Complete duplication of the distal phalanx of ring finger.\n", + " definition of HP:0009978 (Complete duplication of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " #Complete duplication of the outermost bone of the ring finger\n", + " definition of HP:0009978 (Complete duplication of the distal phalanx of the 4th finger)\n", + " \n", + " \n", + " Thyrotoxicosis with toxic multinodular goiter\n", + " definition of HP:0011785 (Thyrotoxicosis with toxic multinodular goiter)\n", + " \n", + " \n", + " #Thyrotoxicosis with toxic multinodular goitre\n", + " definition of HP:0011785 (Thyrotoxicosis with toxic multinodular goiter)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the abdominal wall musculature\n", + " definition of HP:0010318 (Aplasia/Hypoplasia of the abdominal wall musculature)\n", + " \n", + " \n", + " Absence or underdevelopment of the abdominal musculature.\n", + " definition of HP:0010318 (Aplasia/Hypoplasia of the abdominal wall musculature)\n", + " \n", + " \n", + " #Absent/small abdominal wall muscles #Absent/underdeveloped abdominal wall muscles\n", + " definition of HP:0010318 (Aplasia/Hypoplasia of the abdominal wall musculature)\n", + " \n", + " \n", + " Splenic xanthomatosis\n", + " definition of HP:0034623 (Splenic xanthomatosis)\n", + " \n", + " \n", + " Lipid deposits localized within the spleen. Xanthomas are benign but are often an important visible sign of systemic conditions such as familial hypercholesterolemia.\n", + " definition of HP:0034623 (Splenic xanthomatosis)\n", + " \n", + " \n", + " #Spleen xanthomas\n", + " definition of HP:0034623 (Splenic xanthomatosis)\n", + " \n", + " \n", + " Increased susceptibility to fractures\n", + " definition of HP:0002659 (Increased susceptibility to fractures)\n", + " \n", + " \n", + " An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture.\n", + " definition of HP:0002659 (Increased susceptibility to fractures)\n", + " \n", + " \n", + " #Abnormal susceptibility to fractures #Bone fragility #Frequent broken bones #Increased bone fragility #Increased susceptibility to fractures #Increased tendency to fractures\n", + " definition of HP:0002659 (Increased susceptibility to fractures)\n", + " \n", + " \n", + " Impaired neutrophil chemotaxis\n", + " definition of HP:0040238 (Impaired neutrophil chemotaxis)\n", + " \n", + " \n", + " An impairment of the migration of neutrophils towards chemoattractants as part of the innate immune response\n", + " definition of HP:0040238 (Impaired neutrophil chemotaxis)\n", + " \n", + " \n", + " #Neutrophil migratory defect\n", + " definition of HP:0040238 (Impaired neutrophil chemotaxis)\n", + " \n", + " \n", + " Nevus flammeus nuchae\n", + " definition of HP:0007616 (Nevus flammeus nuchae)\n", + " \n", + " \n", + " Naevus flammeus localized in the skin of the neck. This is one of the most common birthmarks and present in approximately 25% of all newborns.\n", + " definition of HP:0007616 (Nevus flammeus nuchae)\n", + " \n", + " \n", + " #Port-wine stain on neck #Stork bite\n", + " definition of HP:0007616 (Nevus flammeus nuchae)\n", + " \n", + " \n", + " Ectopic pancreatic tissue\n", + " definition of HP:0006278 (Ectopic pancreatic tissue)\n", + " \n", + " \n", + " The presence of pancreatic tissue outside the normal pancreas, in many cases along the foregut and proximal midgut.\n", + " definition of HP:0006278 (Ectopic pancreatic tissue)\n", + " \n", + " \n", + " #Abnormal pancreas location\n", + " definition of HP:0006278 (Ectopic pancreatic tissue)\n", + " \n", + " \n", + " Underdeveloped inferior crus of antihelix\n", + " definition of HP:0011239 (Underdeveloped inferior crus of antihelix)\n", + " \n", + " \n", + " Decreased protrusion of the inferior crus relative to the prominence of the antihelix stem.\n", + " definition of HP:0011239 (Underdeveloped inferior crus of antihelix)\n", + " \n", + " \n", + " #Antihelix, inferior crus, underdeveloped #Hypoplastic inferior crus of antihelix #Hypotrophic inferior crus of antihelix\n", + " definition of HP:0011239 (Underdeveloped inferior crus of antihelix)\n", + " \n", + " \n", + " Macular dystrophy\n", + " definition of HP:0007754 (Macular dystrophy)\n", + " \n", + " \n", + " Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident.\n", + " definition of HP:0007754 (Macular dystrophy)\n", + " \n", + " \n", + " Temporal optic disc pallor\n", + " definition of HP:0012511 (Temporal optic disc pallor)\n", + " \n", + " \n", + " A pale yellow discoloration of the temporal (lateral) portion of the optic disc.\n", + " definition of HP:0012511 (Temporal optic disc pallor)\n", + " \n", + " \n", + " Immotile cilia\n", + " definition of HP:0012263 (Immotile cilia)\n", + " \n", + " \n", + " Camptodactyly of finger\n", + " definition of HP:0100490 (Camptodactyly of finger)\n", + " \n", + " \n", + " The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.\n", + " definition of HP:0100490 (Camptodactyly of finger)\n", + " \n", + " \n", + " #Camptodactyly of hands #Camptodactyly of proximal interphalangeal joint #Contractures of the proximal interphalangeal joints of the fingers #Flexion contractures of proximal interphalangeal joints #Permanent flexion of the finger #Proximal interphalangeal finger joint contractures\n", + " definition of HP:0100490 (Camptodactyly of finger)\n", + " \n", + " \n", + " Macular hole\n", + " definition of HP:0011508 (Macular hole)\n", + " \n", + " \n", + " A macular hole is a small break in the macula, located in the center of the retina.\n", + " definition of HP:0011508 (Macular hole)\n", + " \n", + " \n", + " Curly eyelashes\n", + " definition of HP:0007665 (Curly eyelashes)\n", + " \n", + " \n", + " Abnormally curly or curved eyelashes.\n", + " definition of HP:0007665 (Curly eyelashes)\n", + " \n", + " \n", + " #Curly eyelashes\n", + " definition of HP:0007665 (Curly eyelashes)\n", + " \n", + " \n", + " Fractured proximal phalanx of digit 2\n", + " definition of HP:0041211 (Fractured proximal phalanx of digit 2)\n", + " \n", + " \n", + " A partial or complete breakage of the proximal phalanx of digit 2.\n", + " definition of HP:0041211 (Fractured proximal phalanx of digit 2)\n", + " \n", + " \n", + " #bone proximal phalanx of digit 2\n", + " definition of HP:0041211 (Fractured proximal phalanx of digit 2)\n", + " \n", + " \n", + " Upper extremity akinesia\n", + " definition of HP:0033412 (Upper extremity akinesia)\n", + " \n", + " \n", + " Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily in the upper extremities.\n", + " definition of HP:0033412 (Upper extremity akinesia)\n", + " \n", + " \n", + " #Akinesia of the upper extremities\n", + " definition of HP:0033412 (Upper extremity akinesia)\n", + " \n", + " \n", + " Enlarged epiphyses of the 3rd finger\n", + " definition of HP:0009413 (Enlarged epiphyses of the 3rd finger)\n", + " \n", + " \n", + " Abnormally large size of the epiphyses of the 3rd finger with respect to age-dependent norms.\n", + " definition of HP:0009413 (Enlarged epiphyses of the 3rd finger)\n", + " \n", + " \n", + " #Enlarged end part of middle finger bone\n", + " definition of HP:0009413 (Enlarged epiphyses of the 3rd finger)\n", + " \n", + " \n", + " Bullet-shaped thumb phalanx\n", + " definition of HP:0009652 (Bullet-shaped thumb phalanx)\n", + " \n", + " \n", + " An abnormal morphology of one or more phalanges of the thumb, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.\n", + " definition of HP:0009652 (Bullet-shaped thumb phalanx)\n", + " \n", + " \n", + " #Bullet-shaped phalanges of the thumb #Bullet-shaped thumb bone\n", + " definition of HP:0009652 (Bullet-shaped thumb phalanx)\n", + " \n", + " \n", + " Bulging epiphyses\n", + " definition of HP:0003013 (Bulging epiphyses)\n", + " \n", + " \n", + " A morphological abnormality of epiphyses whereby they are abnormally outwardly curving (protuberant).\n", + " definition of HP:0003013 (Bulging epiphyses)\n", + " \n", + " \n", + " #Bulging end part of bone\n", + " definition of HP:0003013 (Bulging epiphyses)\n", + " \n", + " \n", + " Elevated fecal sodium\n", + " definition of HP:0032484 (Elevated fecal sodium)\n", + " \n", + " \n", + " An elevated concentration of sodium in feces.\n", + " definition of HP:0032484 (Elevated fecal sodium)\n", + " \n", + " \n", + " #Elevated faecal sodium\n", + " definition of HP:0032484 (Elevated fecal sodium)\n", + " \n", + " \n", + " Chronic (near) absent circulating IgG3\n", + " definition of HP:0041074 (Chronic (near) absent circulating IgG3)\n", + " \n", + " \n", + " A lasting absence of immunoglobulin G3 (IgG3) in the blood, whereby at most trace quantities of IgG3 can be measured.\n", + " definition of HP:0041074 (Chronic (near) absent circulating IgG3)\n", + " \n", + " \n", + " #Chronic (near) absent IgG3 in blood\n", + " definition of HP:0041074 (Chronic (near) absent circulating IgG3)\n", + " \n", + " \n", + " Intratubular leukocyte casts\n", + " definition of HP:0032627 (Intratubular leukocyte casts)\n", + " \n", + " \n", + " Casts that contain white blood cells and are located within the tubuli of the kidney.\n", + " definition of HP:0032627 (Intratubular leukocyte casts)\n", + " \n", + " \n", + " Abnormal cry\n", + " definition of HP:0025429 (Abnormal cry)\n", + " \n", + " \n", + " Any anomaly of the vocalizing of an infant's crying, i.e.,the typically loud voice production that is accompanied by tears and agitation.\n", + " definition of HP:0025429 (Abnormal cry)\n", + " \n", + " \n", + " Ductus venosus agenesis\n", + " definition of HP:0034196 (Ductus venosus agenesis)\n", + " \n", + " \n", + " A developmental defect characterized by lack of formation of the ductus venosus (a shunt that allows oxygenated blood in the umbilical vein to bypass the liver in the fetal circulation).\n", + " definition of HP:0034196 (Ductus venosus agenesis)\n", + " \n", + " \n", + " #Agenesis of the ductus venosus\n", + " definition of HP:0034196 (Ductus venosus agenesis)\n", + " \n", + " \n", + " Polymorphic and polytopic ventricular extrasystoles\n", + " definition of HP:0006696 (Polymorphic and polytopic ventricular extrasystoles)\n", + " \n", + " \n", + " Periapical tooth abscess\n", + " definition of HP:0030758 (Periapical tooth abscess)\n", + " \n", + " \n", + " A tooth abscess that occurs at the tip of the root (apex) of a tooth.\n", + " definition of HP:0030758 (Periapical tooth abscess)\n", + " \n", + " \n", + " Abnormal muscle fiber delta sarcoglycan\n", + " definition of HP:0030105 (Abnormal muscle fiber delta sarcoglycan)\n", + " \n", + " \n", + " Deviation from normal in the amount of delta sarcoglycan in muscle. The alpha, beta, gamma, and delta sarcoglycans are components of the dystrophin-complex. They are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a cluster of conserved cysteines.\n", + " definition of HP:0030105 (Abnormal muscle fiber delta sarcoglycan)\n", + " \n", + " \n", + " #Abnormal muscle fibre delta sarcoglycan\n", + " definition of HP:0030105 (Abnormal muscle fiber delta sarcoglycan)\n", + " \n", + " \n", + " EMG: continuous motor unit activity at rest\n", + " definition of HP:0100283 (EMG: continuous motor unit activity at rest)\n", + " \n", + " \n", + " Continuous electromyographic activity of motor units at rest, i.e., without voluntary movement of the muscles.\n", + " definition of HP:0100283 (EMG: continuous motor unit activity at rest)\n", + " \n", + " \n", + " Elevated circulating fumarate concentration\n", + " definition of HP:0033504 (Elevated circulating fumarate concentration)\n", + " \n", + " \n", + " An increased concentration of fumarate, an intermediate in the citric acid cycle, in the blood circulation.\n", + " definition of HP:0033504 (Elevated circulating fumarate concentration)\n", + " \n", + " \n", + " Elbow hypertrichosis\n", + " definition of HP:0004780 (Elbow hypertrichosis)\n", + " \n", + " \n", + " Excessive, increased hair growth located in the elbow region.\n", + " definition of HP:0004780 (Elbow hypertrichosis)\n", + " \n", + " \n", + " #Hairy elbow #Hairy elbow syndrome #Hypertrichosis cubiti #Pilosity of elbow\n", + " definition of HP:0004780 (Elbow hypertrichosis)\n", + " \n", + " \n", + " Broad proximal phalanx of the 3rd toe\n", + " definition of HP:0100428 (Broad proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Wide innermost bone of 3rd toe\n", + " definition of HP:0100428 (Broad proximal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Increased circulating myelocyte count\n", + " definition of HP:0032237 (Increased circulating myelocyte count)\n", + " \n", + " \n", + " The number of myelocytes in the peripheral blood circulation is above the upper limit of normal. Myelocytes are immature neutrophils with a size of 12-18 micrometers, a round or oval nucleus with no nucleoli, bluish-pink staining cytoplasm with primary and secondary granules, and a nucleus:cytoplasm ratio of 2:1.\n", + " definition of HP:0032237 (Increased circulating myelocyte count)\n", + " \n", + " \n", + " Ablepharon\n", + " definition of HP:0011224 (Ablepharon)\n", + " \n", + " \n", + " Absent eyelids.\n", + " definition of HP:0011224 (Ablepharon)\n", + " \n", + " \n", + " #Ablepharon of eyelid #Absent eyelids #Agenesis of eyelids #Missing eyelids\n", + " definition of HP:0011224 (Ablepharon)\n", + " \n", + " \n", + " Sclerosis of hallux phalanx\n", + " definition of HP:0100930 (Sclerosis of hallux phalanx)\n", + " \n", + " \n", + " An elevation in bone density in one or more phalanges of the big toe. Sclerosis is normally detected on a radiograph as an area of increased opacity.\n", + " definition of HP:0100930 (Sclerosis of hallux phalanx)\n", + " \n", + " \n", + " #Increased bone density in big toe bone #Sclerosis of the phalanges of the hallux\n", + " definition of HP:0100930 (Sclerosis of hallux phalanx)\n", + " \n", + " \n", + " Abnormal cardiomyocyte plakoglobin staining\n", + " definition of HP:0031338 (Abnormal cardiomyocyte plakoglobin staining)\n", + " \n", + " \n", + " Anomalous staining of plakoglobin in cardiomyocytes. Plakoglobin is a component of desmosomes in cardiomyocytes.\n", + " definition of HP:0031338 (Abnormal cardiomyocyte plakoglobin staining)\n", + " \n", + " \n", + " Long-chain dicarboxylic aciduria\n", + " definition of HP:0008293 (Long-chain dicarboxylic aciduria)\n", + " \n", + " \n", + " An increase in the level of long-chain dicarboxylic acid in the urine.\n", + " definition of HP:0008293 (Long-chain dicarboxylic aciduria)\n", + " \n", + " \n", + " Chronic disseminated intravascular coagulation\n", + " definition of HP:0005520 (Chronic disseminated intravascular coagulation)\n", + " \n", + " \n", + " A chronic form of disseminated intravascular coagulation in which a persistent weak or intermittent activating stimulus is present and destruction and production of coagulation factors and platelets are balanced.\n", + " definition of HP:0005520 (Chronic disseminated intravascular coagulation)\n", + " \n", + " \n", + " #Chronic consumption coagulopathy #Compensated disseminated intravascular coagulation\n", + " definition of HP:0005520 (Chronic disseminated intravascular coagulation)\n", + " \n", + " \n", + " Anti-MAP1B antibody\n", + " definition of HP:5000028 (Anti-MAP1B antibody)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against microtubule-associated protein 1B (MAP1B).\n", + " definition of HP:5000028 (Anti-MAP1B antibody)\n", + " \n", + " \n", + " #Anti-microtubule-associated protein 1B antibody #Anti-Purkinje cell cytoplasmic type-2 antibody\n", + " definition of HP:5000028 (Anti-MAP1B antibody)\n", + " \n", + " \n", + " Agenesis of pulmonary vessels\n", + " definition of HP:0005311 (Agenesis of pulmonary vessels)\n", + " \n", + " \n", + " A developmental defect characterized by the lack of formation of the pulmonary blood vessels.\n", + " definition of HP:0005311 (Agenesis of pulmonary vessels)\n", + " \n", + " \n", + " #Absent lung vessels\n", + " definition of HP:0005311 (Agenesis of pulmonary vessels)\n", + " \n", + " \n", + " Uncombable hair\n", + " definition of HP:0030056 (Uncombable hair)\n", + " \n", + " \n", + " Hair that is disorderly, stands out from the scalp, and cannot be combed flat.\n", + " definition of HP:0030056 (Uncombable hair)\n", + " \n", + " \n", + " #Uncombable hair\n", + " definition of HP:0030056 (Uncombable hair)\n", + " \n", + " \n", + " Irregular hyperpigmentation\n", + " definition of HP:0007400 (Irregular hyperpigmentation)\n", + " \n", + " \n", + " Drug allergy\n", + " definition of HP:0410323 (Drug allergy)\n", + " \n", + " \n", + " Hypersensitivity in form of an adverse immune reaction against drugs.\n", + " definition of HP:0410323 (Drug allergy)\n", + " \n", + " \n", + " #Allergy to drugs #Drug allergy #IgE-mediated drug allergy #Immunoglobulin E-mediated drug allergy\n", + " definition of HP:0410323 (Drug allergy)\n", + " \n", + " \n", + " Juvenile type ovarian granulosa cell tumor\n", + " definition of HP:0031919 (Juvenile type ovarian granulosa cell tumor)\n", + " \n", + " \n", + " Juvenile granulosa cell ovarian tumor (JGCOT) is a rare sex cord stromal tumor, occurring most frequently in premenarchal girls or young women. In contrast to adult granulosa cell tumor, JGCOT has a high mitotic index and more aggressive tumor growth. Microscopically it is seen as diffuse and regularly distributed neoplastic cells with a wide cytoplasm and pleomorphic hyperchromatic nucleus. Follicle formation, in various sizes and shapes, is important in JGCOT. Call-Exner bodies are infrequently seen in JGCOT in contrast to the adult type.\n", + " definition of HP:0031919 (Juvenile type ovarian granulosa cell tumor)\n", + " \n", + " \n", + " #Juvenile type ovarian granulosa cell tumour #Ovarian juvenile granulosa cell tumor #Ovarian juvenile granulosa cell tumour\n", + " definition of HP:0031919 (Juvenile type ovarian granulosa cell tumor)\n", + " \n", + " \n", + " Increased level of L-pyroglutamic acid in urine\n", + " definition of HP:0410132 (Increased level of L-pyroglutamic acid in urine)\n", + " \n", + " \n", + " An increase in the level of L-pyroglutamic acid in the urine.\n", + " definition of HP:0410132 (Increased level of L-pyroglutamic acid in urine)\n", + " \n", + " \n", + " #Elevated urine 5-oxoproline #Increased level of 5-oxo-L-proline in urine\n", + " definition of HP:0410132 (Increased level of L-pyroglutamic acid in urine)\n", + " \n", + " \n", + " Spurred ulnar metaphysis\n", + " definition of HP:0004046 (Spurred ulnar metaphysis)\n", + " \n", + " \n", + " Soft tissue neoplasm\n", + " definition of HP:0031459 (Soft tissue neoplasm)\n", + " \n", + " \n", + " A tumor (abnormal growth of tissue) that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms.\n", + " definition of HP:0031459 (Soft tissue neoplasm)\n", + " \n", + " \n", + " Abnormality of the premaxilla\n", + " definition of HP:0010758 (Abnormality of the premaxilla)\n", + " \n", + " \n", + " An abnormality of the premaxilla, the most anterior part of the maxilla that usually bears the central and lateral incisors and includes the anterior nasal spine and inferior aspect of the piriform rim. The premaxilla contains the bone and teeth of the primary palate.\n", + " definition of HP:0010758 (Abnormality of the premaxilla)\n", + " \n", + " \n", + " #Abnormality of the intermaxillary bone #Abnormality of the intermaxillary segment of the maxilla #Abnormality of the premaxillary bone #Abnormality of the primary palate bone\n", + " definition of HP:0010758 (Abnormality of the premaxilla)\n", + " \n", + " \n", + " Paresis of extensor muscles of the big toe\n", + " definition of HP:0002601 (Paresis of extensor muscles of the big toe)\n", + " \n", + " \n", + " Prostate cancer\n", + " definition of HP:0012125 (Prostate cancer)\n", + " \n", + " \n", + " A cancer of the prostate.\n", + " definition of HP:0012125 (Prostate cancer)\n", + " \n", + " \n", + " #Prostatic cancer\n", + " definition of HP:0012125 (Prostate cancer)\n", + " \n", + " \n", + " Elevated circulating tetradecenoylcarnitine concentration\n", + " definition of HP:6000476 (Elevated circulating tetradecenoylcarnitine concentration)\n", + " \n", + " \n", + " The concentration of tetradecenoylcarnitine (C14:1) in the blood circulation is above the upper limit of normal.\n", + " definition of HP:6000476 (Elevated circulating tetradecenoylcarnitine concentration)\n", + " \n", + " \n", + " Placidity\n", + " definition of HP:6000030 (Placidity)\n", + " \n", + " \n", + " Flat affect and reduced response to emotional stimuli. Fear and anger responses that are normally present are blunted.\n", + " definition of HP:6000030 (Placidity)\n", + " \n", + " \n", + " Amplification of relationship seeking\n", + " definition of HP:5200315 (Amplification of relationship seeking)\n", + " \n", + " \n", + " Increased frequency or duration in social outings and interactions as part of relationship-seeking or maintenance compared to the previous norms of an individual. May be considered to be overfamiliar and have a tendency to engage strangers in a presumptive manner.\n", + " definition of HP:5200315 (Amplification of relationship seeking)\n", + " \n", + " \n", + " #Extraversion #Increased seeking of relationships\n", + " definition of HP:5200315 (Amplification of relationship seeking)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the ear\n", + " definition of HP:0008771 (Aplasia/Hypoplasia of the ear)\n", + " \n", + " \n", + " The presence of aplasia or developmental hypoplasia of the ear.\n", + " definition of HP:0008771 (Aplasia/Hypoplasia of the ear)\n", + " \n", + " \n", + " #Absent/small ear #Absent/underdeveloped ear\n", + " definition of HP:0008771 (Aplasia/Hypoplasia of the ear)\n", + " \n", + " \n", + " Punctate vasculitis skin lesions\n", + " definition of HP:0200030 (Punctate vasculitis skin lesions)\n", + " \n", + " \n", + " Hyperleucinemia\n", + " definition of HP:0010911 (Hyperleucinemia)\n", + " \n", + " \n", + " An increased concentration of leucine in the blood.\n", + " definition of HP:0010911 (Hyperleucinemia)\n", + " \n", + " \n", + " #High blood leucine concentration\n", + " definition of HP:0010911 (Hyperleucinemia)\n", + " \n", + " \n", + " Focal dystonia\n", + " definition of HP:0004373 (Focal dystonia)\n", + " \n", + " \n", + " A type of dystonia that is localized to a specific part of the body.\n", + " definition of HP:0004373 (Focal dystonia)\n", + " \n", + " \n", + " Elevated urine N-acetyltyrosine level\n", + " definition of HP:6000479 (Elevated urine N-acetyltyrosine level)\n", + " \n", + " \n", + " The amount of N-acetyltyrosine in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000479 (Elevated urine N-acetyltyrosine level)\n", + " \n", + " \n", + " BCL6 expression\n", + " definition of HP:0430093 (BCL6 expression)\n", + " \n", + " \n", + " Detection of the presence of BCL6 on the cell(s) of interest with the use of anti-BCL6 antibodies conjugated to a chromogen (for immunohistochemistry) or fluorophore (for flow cytometry).\n", + " definition of HP:0430093 (BCL6 expression)\n", + " \n", + " \n", + " Motor axonal neuropathy\n", + " definition of HP:0007002 (Motor axonal neuropathy)\n", + " \n", + " \n", + " Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg.\n", + " definition of HP:0007002 (Motor axonal neuropathy)\n", + " \n", + " \n", + " Neutrophilia in presence of infection\n", + " definition of HP:0410257 (Neutrophilia in presence of infection)\n", + " \n", + " \n", + " An increased number of neutrophils circulating in the blood during an infection, such as with a bacteria, virus or fungus.\n", + " definition of HP:0410257 (Neutrophilia in presence of infection)\n", + " \n", + " \n", + " Focal sensory seizure with auditory features\n", + " definition of HP:0011158 (Focal sensory seizure with auditory features)\n", + " \n", + " \n", + " A seizure characterized by elementary auditory phenomena including buzzing, ringing, drumming or single tones as its first clinical manifestation.\n", + " definition of HP:0011158 (Focal sensory seizure with auditory features)\n", + " \n", + " \n", + " #Auditory aura #Focal auditory seizure #Focal sensory auditory seizure #Partial auditory seizure\n", + " definition of HP:0011158 (Focal sensory seizure with auditory features)\n", + " \n", + " \n", + " Decreased O-mannosyl glycans on alpha-dystroglycan\n", + " definition of HP:0410362 (Decreased O-mannosyl glycans on alpha-dystroglycan)\n", + " \n", + " \n", + " Hypoglycosylation of alpha-dystroglycan with O-mannosyl glycans. Alpha-dystroglycan is a functional target of O-mannosyl glycosylation and functional glycosylation of alpha-DG is essential in its interaction with the extracellular matrix.\n", + " definition of HP:0410362 (Decreased O-mannosyl glycans on alpha-dystroglycan)\n", + " \n", + " \n", + " #Reduced O-mannosyl glycans on alpha-dystroglycan\n", + " definition of HP:0410362 (Decreased O-mannosyl glycans on alpha-dystroglycan)\n", + " \n", + " \n", + " Decreased circulating hepcidin concentration\n", + " definition of HP:0031876 (Decreased circulating hepcidin concentration)\n", + " \n", + " \n", + " Concentration of hepcidin in the blood circulation below the lower limit of normal.\n", + " definition of HP:0031876 (Decreased circulating hepcidin concentration)\n", + " \n", + " \n", + " #Decreased hepcidin level\n", + " definition of HP:0031876 (Decreased circulating hepcidin concentration)\n", + " \n", + " \n", + " Abnormal circulating haptoglobin concentration\n", + " definition of HP:0020179 (Abnormal circulating haptoglobin concentration)\n", + " \n", + " \n", + " A deviation from the normal concentration of haptoglobin in the blood circulation.\n", + " definition of HP:0020179 (Abnormal circulating haptoglobin concentration)\n", + " \n", + " \n", + " #Abnormal haptoglobin level\n", + " definition of HP:0020179 (Abnormal circulating haptoglobin concentration)\n", + " \n", + " \n", + " Monoclonal elevation of IgG lambda chain\n", + " definition of HP:0032295 (Monoclonal elevation of IgG lambda chain)\n", + " \n", + " \n", + " A type of monoclonal elevation of IgG in which the involved immunoglobulin has an abnormal structure with a lambda light chain but not a heavy chain.\n", + " definition of HP:0032295 (Monoclonal elevation of IgG lambda chain)\n", + " \n", + " \n", + " Posteriorly rotated ears\n", + " definition of HP:0000358 (Posteriorly rotated ears)\n", + " \n", + " \n", + " A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).\n", + " definition of HP:0000358 (Posteriorly rotated ears)\n", + " \n", + " \n", + " #Ear, posterior angulation, increased #Ears rotated toward back of head #Posteriorly angulated ears #Posteriorly rotated #Posteriorly rotated auricles #Posteriorly-angulated ears #Posteriorly-rotated ears\n", + " definition of HP:0000358 (Posteriorly rotated ears)\n", + " \n", + " \n", + " Grasp reflex\n", + " definition of HP:0030903 (Grasp reflex)\n", + " \n", + " \n", + " A type of primitive reflex that can be elicated when the hand of the examiner is gently inserted into the palm of the patient's hand. The palmar surface is stroked or simply touched. The flexor surfaces of the fingers may be stimulated also by the examiner's fingers. The stimulus should be in a distal direction. With a positive response, the patient grasps the examiner's hand with variable strength and continues to grasp as the examiner's hand is moved. Ability to release the grip voluntarily depends on the activity of the reflex; some patients can do so readily, while others can even be lifted off the bed, since the grasp has such power [NCBI Books:NBK395].\n", + " definition of HP:0030903 (Grasp reflex)\n", + " \n", + " \n", + " #Palmar grasp reflex\n", + " definition of HP:0030903 (Grasp reflex)\n", + " \n", + " \n", + " Seborrhoeic blepharitis\n", + " definition of HP:0500046 (Seborrhoeic blepharitis)\n", + " \n", + " \n", + " Inflammation of the eyelid due to overactivity of the sebaceous gland.\n", + " definition of HP:0500046 (Seborrhoeic blepharitis)\n", + " \n", + " \n", + " Prominent interdigital folds\n", + " definition of HP:0006189 (Prominent interdigital folds)\n", + " \n", + " \n", + " Metacarpophalangeal joint contracture\n", + " definition of HP:0006070 (Metacarpophalangeal joint contracture)\n", + " \n", + " \n", + " A chronic loss of joint motion in metacarpophalangeal joints due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.\n", + " definition of HP:0006070 (Metacarpophalangeal joint contracture)\n", + " \n", + " \n", + " #Metacarpal/phalangeal joint contractures\n", + " definition of HP:0006070 (Metacarpophalangeal joint contracture)\n", + " \n", + " \n", + " Bradycardia\n", + " definition of HP:0001662 (Bradycardia)\n", + " \n", + " \n", + " A slower than normal heart rate (in adults, slower than 60 beats per minute).\n", + " definition of HP:0001662 (Bradycardia)\n", + " \n", + " \n", + " #Brachycardia #Slow heartbeats\n", + " definition of HP:0001662 (Bradycardia)\n", + " \n", + " \n", + " Arterial intimal fibrosis\n", + " definition of HP:0011353 (Arterial intimal fibrosis)\n", + " \n", + " \n", + " Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries.\n", + " definition of HP:0011353 (Arterial intimal fibrosis)\n", + " \n", + " \n", + " Unaided visual acuity 0.2 LogMAR\n", + " definition of HP:0030537 (Unaided visual acuity 0.2 LogMAR)\n", + " \n", + " \n", + " Asymmetry of the maxilla\n", + " definition of HP:0010755 (Asymmetry of the maxilla)\n", + " \n", + " \n", + " Asymmetry between the left and right sides of the maxilla.\n", + " definition of HP:0010755 (Asymmetry of the maxilla)\n", + " \n", + " \n", + " #Asymmetry of right and left side of the maxilla #Canted maxilla #Canted upper jaw #Crooked maxilla #Tilted maxilla #Tilted upper jaw #Unequal sides of maxilla #Uneven maxilla #Uneven upper jaw\n", + " definition of HP:0010755 (Asymmetry of the maxilla)\n", + " \n", + " \n", + " Abnormal ossification involving the femoral head and neck\n", + " definition of HP:0009107 (Abnormal ossification involving the femoral head and neck)\n", + " \n", + " \n", + " Anti-glutamic acid decarboxylase antibody positivity\n", + " definition of HP:0025329 (Anti-glutamic acid decarboxylase antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against glutamic acid decarboxylase.\n", + " definition of HP:0025329 (Anti-glutamic acid decarboxylase antibody positivity)\n", + " \n", + " \n", + " #Anti-GAD antibody positivity\n", + " definition of HP:0025329 (Anti-glutamic acid decarboxylase antibody positivity)\n", + " \n", + " \n", + " Bloodstream virus-specific antibody positivity\n", + " definition of HP:0430059 (Bloodstream virus-specific antibody positivity)\n", + " \n", + " \n", + " The presence of antibodies in the blood circulation that react against a virus.\n", + " definition of HP:0430059 (Bloodstream virus-specific antibody positivity)\n", + " \n", + " \n", + " Hot water-induced seizure\n", + " definition of HP:0020209 (Hot water-induced seizure)\n", + " \n", + " \n", + " A seizure precipitated by pouring cupfuls of very hot water (40 to 50 degrees Celsius) in rapid succession over the head. Bathing in this manner is the most common trigger.\n", + " definition of HP:0020209 (Hot water-induced seizure)\n", + " \n", + " \n", + " Increased size of nasopharyngeal adenoids\n", + " definition of HP:0040261 (Increased size of nasopharyngeal adenoids)\n", + " \n", + " \n", + " An abnormal increase in the size of nasopharyngeal adenoids.\n", + " definition of HP:0040261 (Increased size of nasopharyngeal adenoids)\n", + " \n", + " \n", + " Fractured distal phalanx\n", + " definition of HP:0041218 (Fractured distal phalanx)\n", + " \n", + " \n", + " A partial or complete breakage of the distal phalanx.\n", + " definition of HP:0041218 (Fractured distal phalanx)\n", + " \n", + " \n", + " #bone distal phalanx\n", + " definition of HP:0041218 (Fractured distal phalanx)\n", + " \n", + " \n", + " Abnormal preoccupation\n", + " definition of HP:0025785 (Abnormal preoccupation)\n", + " \n", + " \n", + " Preoccupations refers to being absorbed in any particular thought, activity, or concern that captures the attention of the individual. It may have a positive or negative connotation.\n", + " definition of HP:0025785 (Abnormal preoccupation)\n", + " \n", + " \n", + " Mirror image foot polydactyly\n", + " definition of HP:0010691 (Mirror image foot polydactyly)\n", + " \n", + " \n", + " Mirror image duplication of digits affecting the feet.\n", + " definition of HP:0010691 (Mirror image foot polydactyly)\n", + " \n", + " \n", + " #Mirror image duplication of toes\n", + " definition of HP:0010691 (Mirror image foot polydactyly)\n", + " \n", + " \n", + " Abnormal blood gas level in cord blood\n", + " definition of HP:0410211 (Abnormal blood gas level in cord blood)\n", + " \n", + " \n", + " Ulnar deviation of thumb\n", + " definition of HP:0006156 (Ulnar deviation of thumb)\n", + " \n", + " \n", + " Bending or curvature of a thumb towards the ulnar side (towards the ring finger).\n", + " definition of HP:0006156 (Ulnar deviation of thumb)\n", + " \n", + " \n", + " #Ulnar deviation of the 1st finger\n", + " definition of HP:0006156 (Ulnar deviation of thumb)\n", + " \n", + " \n", + " Increased serum testosterone level\n", + " definition of HP:0030088 (Increased serum testosterone level)\n", + " \n", + " \n", + " An elevated circulating testosterone level in the blood.\n", + " definition of HP:0030088 (Increased serum testosterone level)\n", + " \n", + " \n", + " #High serum testosterone level #High serum testosterone levels #Increased serum testosterone levels\n", + " definition of HP:0030088 (Increased serum testosterone level)\n", + " \n", + " \n", + " Glomerular extracapillary hypercellularity\n", + " definition of HP:0025364 (Glomerular extracapillary hypercellularity)\n", + " \n", + " \n", + " Hypercellularity (increased number of cells) in the renal glomerulus but external to the glomerular capillaries, i.e., in the Bowman space or more than one layer of parietal or visceral epithelial cells.\n", + " definition of HP:0025364 (Glomerular extracapillary hypercellularity)\n", + " \n", + " \n", + " #Extracapillary glomerular hypercellularity #Extracapillary hypercellularity\n", + " definition of HP:0025364 (Glomerular extracapillary hypercellularity)\n", + " \n", + " \n", + " Elevated circulating C12 acylcarnitine concentration\n", + " definition of HP:0430143 (Elevated circulating C12 acylcarnitine concentration)\n", + " \n", + " \n", + " Concentration of C12 acylcarnitines in the blood circulation above the upper limit of normal. C12 acylcarnitines have a twelve-carbon acyl chain.\n", + " definition of HP:0430143 (Elevated circulating C12 acylcarnitine concentration)\n", + " \n", + " \n", + " Congenital defect of the pericardium\n", + " definition of HP:0011628 (Congenital defect of the pericardium)\n", + " \n", + " \n", + " A developmental defect of the pericardium with congenital onset.\n", + " definition of HP:0011628 (Congenital defect of the pericardium)\n", + " \n", + " \n", + " Reduced erythrocyte inosine triphosphatase activity\n", + " definition of HP:6000511 (Reduced erythrocyte inosine triphosphatase activity)\n", + " \n", + " \n", + " Activity or concentration of inosine triphosphate pyrophosphohydrolase (EC 3.6.1.19) in red blood cells below the lower limit of normal.\n", + " definition of HP:6000511 (Reduced erythrocyte inosine triphosphatase activity)\n", + " \n", + " \n", + " Cardiac arrest\n", + " definition of HP:0001695 (Cardiac arrest)\n", + " \n", + " \n", + " An abrupt loss of heart function.\n", + " definition of HP:0001695 (Cardiac arrest)\n", + " \n", + " \n", + " #Heart stops beating\n", + " definition of HP:0001695 (Cardiac arrest)\n", + " \n", + " \n", + " Pinguecula\n", + " definition of HP:0031830 (Pinguecula)\n", + " \n", + " \n", + " A pinguecula is a yellowish to brown protruding lesion in the conjunctiva that is easily seen on the nasal and temporal sides of the cornea.\n", + " definition of HP:0031830 (Pinguecula)\n", + " \n", + " \n", + " Pneumocystis cysts in respiratory secretions\n", + " definition of HP:6000256 (Pneumocystis cysts in respiratory secretions)\n", + " \n", + " \n", + " Demonstration of cysts of Pneumocystis (a genus of related fungal species) in respiratory secretions such as nasopharyngeal secretions or pleural fluid.\n", + " definition of HP:6000256 (Pneumocystis cysts in respiratory secretions)\n", + " \n", + " \n", + " Positive methadone plasma/serum test\n", + " definition of HP:0410207 (Positive methadone plasma/serum test)\n", + " \n", + " \n", + " Detection of methadone or its metabolite 2-ethylidene-1,5-dimethyl-3,3- diphenylpyrrolidine (EDDP) in plasma or serum.\n", + " definition of HP:0410207 (Positive methadone plasma/serum test)\n", + " \n", + " \n", + " Thoracic lordosis\n", + " definition of HP:0430043 (Thoracic lordosis)\n", + " \n", + " \n", + " Thoracic lordosis refers to an abnormal curvature of the thoracic spine in which the thoracic spine displays lordosis (inward curve) instead of the normal kyphosis (outward curve).\n", + " definition of HP:0430043 (Thoracic lordosis)\n", + " \n", + " \n", + " Elevated urine dodecanedioic acid level\n", + " definition of HP:0025744 (Elevated urine dodecanedioic acid level)\n", + " \n", + " \n", + " The amount of dodecanedioic acid in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:0025744 (Elevated urine dodecanedioic acid level)\n", + " \n", + " \n", + " Hepatic foam cells\n", + " definition of HP:0034029 (Hepatic foam cells)\n", + " \n", + " \n", + " The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, in the liver.\n", + " definition of HP:0034029 (Hepatic foam cells)\n", + " \n", + " \n", + " Renal corticomedullary cysts\n", + " definition of HP:0000108 (Renal corticomedullary cysts)\n", + " \n", + " \n", + " The presence of multiple cysts at the border between the renal cortex and medulla.\n", + " definition of HP:0000108 (Renal corticomedullary cysts)\n", + " \n", + " \n", + " #Corticomedullary renal cysts\n", + " definition of HP:0000108 (Renal corticomedullary cysts)\n", + " \n", + " \n", + " Buphthalmos\n", + " definition of HP:0000557 (Buphthalmos)\n", + " \n", + " \n", + " Diffusely large eye (with megalocornea) associated with glaucoma.\n", + " definition of HP:0000557 (Buphthalmos)\n", + " \n", + " \n", + " #Enlarged eyeball\n", + " definition of HP:0000557 (Buphthalmos)\n", + " \n", + " \n", + " Premature closure of fontanelles\n", + " definition of HP:0005458 (Premature closure of fontanelles)\n", + " \n", + " \n", + " Normally, the posterior and lateral fontanelles are obliterated by about six months after birth, the anterior fontanelle closes by about the middle of the second year. This term refers to the situation in which the fontanelles close at an inappropriately early time point.\n", + " definition of HP:0005458 (Premature closure of fontanelles)\n", + " \n", + " \n", + " #Early closure of the fontanelles #Obliterated fontanelles\n", + " definition of HP:0005458 (Premature closure of fontanelles)\n", + " \n", + " \n", + " Elevated CSF alpha-crystallin B chain concentration\n", + " definition of HP:6000399 (Elevated CSF alpha-crystallin B chain concentration)\n", + " \n", + " \n", + " The concentration of alpha-crystallin B chain in the cerebrospinal fluid (CSF) is above the upper limit of normal.\n", + " definition of HP:6000399 (Elevated CSF alpha-crystallin B chain concentration)\n", + " \n", + " \n", + " #Alphabeta-crystallin high in CSF\n", + " definition of HP:6000399 (Elevated CSF alpha-crystallin B chain concentration)\n", + " \n", + " \n", + " Aplasia/Hypoplasia involving the central nervous system\n", + " definition of HP:0002977 (Aplasia/Hypoplasia involving the central nervous system)\n", + " \n", + " \n", + " Absence or underdevelopment of tissue in the central nervous system.\n", + " definition of HP:0002977 (Aplasia/Hypoplasia involving the central nervous system)\n", + " \n", + " \n", + " #Absent/underdeveloped central nervous system tissue #Aplasia/Hypoplasia involving the CNS\n", + " definition of HP:0002977 (Aplasia/Hypoplasia involving the central nervous system)\n", + " \n", + " \n", + " Agenesis of putamen\n", + " definition of HP:0041052 (Agenesis of putamen)\n", + " \n", + " \n", + " A developmental defect characterized by the absence of the putamen owing to its failure to develop.\n", + " definition of HP:0041052 (Agenesis of putamen)\n", + " \n", + " \n", + " Absent bronchoalveolar surfactant-protein C\n", + " definition of HP:0032980 (Absent bronchoalveolar surfactant-protein C)\n", + " \n", + " \n", + " Significantly decreased level or failed detection of surfactant protein C in broncho-alveolar lavage fluid. Comment: Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions, whereas SP-B and SP-C are hydrophobic molecules, which play a direct role in the organization of the surfactant structure in the interphase and in the stabilization of the lipid layers during the respiratory cycle. Lack of SP-C may result of surfactant metabolism dysfunction and is also observed in patients with other diffuse parenchymal lung diseases, pathogenetically related to the alveolar surfactant region.\n", + " definition of HP:0032980 (Absent bronchoalveolar surfactant-protein C)\n", + " \n", + " \n", + " Double outlet right ventricle\n", + " definition of HP:0001719 (Double outlet right ventricle)\n", + " \n", + " \n", + " Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle.\n", + " definition of HP:0001719 (Double outlet right ventricle)\n", + " \n", + " \n", + " #DORV #Double-outlet right ventricle\n", + " definition of HP:0001719 (Double outlet right ventricle)\n", + " \n", + " \n", + " Nocturnal hypoxemia\n", + " definition of HP:0034312 (Nocturnal hypoxemia)\n", + " \n", + " \n", + " Abnormally reduced oxyhemoglobin saturation during sleep (nocturnal). Different thresholds are used in the literature, including more than 10 percent of total sleep time below a SpO2 of 90 percent.\n", + " definition of HP:0034312 (Nocturnal hypoxemia)\n", + " \n", + " \n", + " #Sleep hypoxemia #Sleep-related hypoxemia\n", + " definition of HP:0034312 (Nocturnal hypoxemia)\n", + " \n", + " \n", + " Chronic rhinitis due to narrow nasal airway\n", + " definition of HP:0004499 (Chronic rhinitis due to narrow nasal airway)\n", + " \n", + " \n", + " #Chronic nasal inflammation due to narrow nasal airway\n", + " definition of HP:0004499 (Chronic rhinitis due to narrow nasal airway)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the tongue\n", + " definition of HP:0010295 (Aplasia/Hypoplasia of the tongue)\n", + " \n", + " \n", + " Absence or underdevelopment of the tongue.\n", + " definition of HP:0010295 (Aplasia/Hypoplasia of the tongue)\n", + " \n", + " \n", + " #Lingual aplasia/hypoplasia\n", + " definition of HP:0010295 (Aplasia/Hypoplasia of the tongue)\n", + " \n", + " \n", + " Ambiguous atrioventricular connection\n", + " definition of HP:0011552 (Ambiguous atrioventricular connection)\n", + " \n", + " \n", + " With left or right cardiac isomerism in a biventricular, the atrioventricular connections are perforce ambiguous, in that one of the connections is concordant (e.g., right-sided morphologic right atrium connected to a morphologic right ventricle) and one of the connections is discordant (e.g., left-sided morphologic right atrium connected to a morphologic left ventricle).\n", + " definition of HP:0011552 (Ambiguous atrioventricular connection)\n", + " \n", + " \n", + " #Ambiguous atrioventricular connexion\n", + " definition of HP:0011552 (Ambiguous atrioventricular connection)\n", + " \n", + " \n", + " Intense psychological distress to cues\n", + " definition of HP:0032941 (Intense psychological distress to cues)\n", + " \n", + " \n", + " Intense or prolonged psychological distress occurs when individuals are exposed to internal or external cues that symbolize or resemble an aspect of the traumatic event or events.\n", + " definition of HP:0032941 (Intense psychological distress to cues)\n", + " \n", + " \n", + " Functional intestinal obstruction\n", + " definition of HP:0005249 (Functional intestinal obstruction)\n", + " \n", + " \n", + " Diarrhea\n", + " definition of HP:0002014 (Diarrhea)\n", + " \n", + " \n", + " Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.\n", + " definition of HP:0002014 (Diarrhea)\n", + " \n", + " \n", + " #Diarrhea #Diarrhoea #Watery stool\n", + " definition of HP:0002014 (Diarrhea)\n", + " \n", + " \n", + " Increased urinary zinc level\n", + " definition of HP:0025639 (Increased urinary zinc level)\n", + " \n", + " \n", + " An abnormally elevated amount of zinc in the urine, typically as assessed by a 24 hour urine collection.\n", + " definition of HP:0025639 (Increased urinary zinc level)\n", + " \n", + " \n", + " Increased circulating beta-C-terminal telopeptide concentration\n", + " definition of HP:0031425 (Increased circulating beta-C-terminal telopeptide concentration)\n", + " \n", + " \n", + " A abnormal elevation above the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation.\n", + " definition of HP:0031425 (Increased circulating beta-C-terminal telopeptide concentration)\n", + " \n", + " \n", + " #Increased circulating beta-C-terminal telopeptide level #Increased circulating beta-CrossLaps level #Increased circulating beta-CTx level\n", + " definition of HP:0031425 (Increased circulating beta-C-terminal telopeptide concentration)\n", + " \n", + " \n", + " Hypomelanotic macule\n", + " definition of HP:0009719 (Hypomelanotic macule)\n", + " \n", + " \n", + " Hypomelanotic macules (\\"ash leaf spots\\") are white or lighter patches of skin that may appear anywhere on the body and are caused by a lack of melanin. White ash leaf-shaped macules are considered to be characteristic of tuberous sclerosis.\n", + " definition of HP:0009719 (Hypomelanotic macule)\n", + " \n", + " \n", + " #Hypomelanotic macules\n", + " definition of HP:0009719 (Hypomelanotic macule)\n", + " \n", + " \n", + " Oligohydramnios\n", + " definition of HP:0001562 (Oligohydramnios)\n", + " \n", + " \n", + " Diminished amniotic fluid volume in pregnancy.\n", + " definition of HP:0001562 (Oligohydramnios)\n", + " \n", + " \n", + " #Low levels of amniotic fluid #Maternal oligohydramnios\n", + " definition of HP:0001562 (Oligohydramnios)\n", + " \n", + " \n", + " Kinked brainstem\n", + " definition of HP:0012793 (Kinked brainstem)\n", + " \n", + " \n", + " A kinked appearance of the brainstem, i.e., an exaggerated flexure.\n", + " definition of HP:0012793 (Kinked brainstem)\n", + " \n", + " \n", + " #Kinked brain stem\n", + " definition of HP:0012793 (Kinked brainstem)\n", + " \n", + " \n", + " Renal arteriole medial hypertrophy\n", + " definition of HP:0033918 (Renal arteriole medial hypertrophy)\n", + " \n", + " \n", + " Increased thickness of middle layer of the arterioles of the kidney.\n", + " definition of HP:0033918 (Renal arteriole medial hypertrophy)\n", + " \n", + " \n", + " #Medial hypertrophy within arterioles\n", + " definition of HP:0033918 (Renal arteriole medial hypertrophy)\n", + " \n", + " \n", + " Concomitant strabismus\n", + " definition of HP:0025069 (Concomitant strabismus)\n", + " \n", + " \n", + " Strabismus in which the angle of deviation of the squiting eye remains the same in relation to the other eye, in all directions of gaze, and whichever eye is fixing.\n", + " definition of HP:0025069 (Concomitant strabismus)\n", + " \n", + " \n", + " #Comitant strabismus\n", + " definition of HP:0025069 (Concomitant strabismus)\n", + " \n", + " \n", + " Bullet-shaped phalanges of the 2nd finger\n", + " definition of HP:0009548 (Bullet-shaped phalanges of the 2nd finger)\n", + " \n", + " \n", + " A second finger with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.\n", + " definition of HP:0009548 (Bullet-shaped phalanges of the 2nd finger)\n", + " \n", + " \n", + " #Bullet-shaped index finger bones\n", + " definition of HP:0009548 (Bullet-shaped phalanges of the 2nd finger)\n", + " \n", + " \n", + " Aplasia/Hypoplasia involving the sinuses\n", + " definition of HP:0009120 (Aplasia/Hypoplasia involving the sinuses)\n", + " \n", + " \n", + " Absence or underdevelopment of a cranial sinus or sinuses.\n", + " definition of HP:0009120 (Aplasia/Hypoplasia involving the sinuses)\n", + " \n", + " \n", + " Corticospinal tract hypoplasia\n", + " definition of HP:0007016 (Corticospinal tract hypoplasia)\n", + " \n", + " \n", + " Progressive microcephaly\n", + " definition of HP:0000253 (Progressive microcephaly)\n", + " \n", + " \n", + " Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms.\n", + " definition of HP:0000253 (Progressive microcephaly)\n", + " \n", + " \n", + " #Microcephaly, postnatal, progressive #Microcephaly, progressive #Progressively abnormally small cranium #Progressively abnormally small skull\n", + " definition of HP:0000253 (Progressive microcephaly)\n", + " \n", + " \n", + " Lipomatous tumor\n", + " definition of HP:0012031 (Lipomatous tumor)\n", + " \n", + " \n", + " #Lipomatous tumour\n", + " definition of HP:0012031 (Lipomatous tumor)\n", + " \n", + " \n", + " Misalignment of the pulmonary veins\n", + " definition of HP:0033186 (Misalignment of the pulmonary veins)\n", + " \n", + " \n", + " The term is commonly used to describe a putative abnormal location of pulmonary vein branches adjacent to pulmonary arteries within the same adventitial sheath. However, evidence has been provided that the vessels in question are not pulmonary veins, however represent dilated bronchial veins.\n", + " definition of HP:0033186 (Misalignment of the pulmonary veins)\n", + " \n", + " \n", + " Very preterm birth\n", + " definition of HP:0025666 (Very preterm birth)\n", + " \n", + " \n", + " Birth before 32 completed weeks of gestation (28 up to but not including 32 weeks).\n", + " definition of HP:0025666 (Very preterm birth)\n", + " \n", + " \n", + " Globus pallidus calcification\n", + " definition of HP:0031627 (Globus pallidus calcification)\n", + " \n", + " \n", + " Pathological deposition of calcium salts in the globus pallidus.\n", + " definition of HP:0031627 (Globus pallidus calcification)\n", + " \n", + " \n", + " Photophobia\n", + " definition of HP:0000613 (Photophobia)\n", + " \n", + " \n", + " Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.\n", + " definition of HP:0000613 (Photophobia)\n", + " \n", + " \n", + " #Extreme sensitivity of the eyes to light #Light hypersensitivity #Photodysphoria\n", + " definition of HP:0000613 (Photophobia)\n", + " \n", + " \n", + " Physical urticaria\n", + " definition of HP:0410134 (Physical urticaria)\n", + " \n", + " \n", + " Urticaria caused by physical agents, such as heat, cold, light, friction.\n", + " definition of HP:0410134 (Physical urticaria)\n", + " \n", + " \n", + " Postlingual sensorineural hearing impairment\n", + " definition of HP:0008596 (Postlingual sensorineural hearing impairment)\n", + " \n", + " \n", + " A form of sensorineural hearing impairment with onset after the acquisition of speech.\n", + " definition of HP:0008596 (Postlingual sensorineural hearing impairment)\n", + " \n", + " \n", + " Abnormal renal glomerulus morphology\n", + " definition of HP:0000095 (Abnormal renal glomerulus morphology)\n", + " \n", + " \n", + " A structural anomaly of the glomerulus.\n", + " definition of HP:0000095 (Abnormal renal glomerulus morphology)\n", + " \n", + " \n", + " #Abnormality of renal glomerulus morphology #Morphologic abnormality of the renal glomerulus\n", + " definition of HP:0000095 (Abnormal renal glomerulus morphology)\n", + " \n", + " \n", + " Abnormal ossification of the scaphoid\n", + " definition of HP:0045003 (Abnormal ossification of the scaphoid)\n", + " \n", + " \n", + " Increased placental thickness\n", + " definition of HP:0032548 (Increased placental thickness)\n", + " \n", + " \n", + " Abnormally elevated placental thickness.\n", + " definition of HP:0032548 (Increased placental thickness)\n", + " \n", + " \n", + " #Placental thickness increased\n", + " definition of HP:0032548 (Increased placental thickness)\n", + " \n", + " \n", + " Enlarged epiphysis of the proximal phalanx of the 3rd finger\n", + " definition of HP:0009349 (Enlarged epiphysis of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms.\n", + " definition of HP:0009349 (Enlarged epiphysis of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Enlarged end part of innermost long bone of the middle finger #Large epiphysis of proximal middle-finger phalanx\n", + " definition of HP:0009349 (Enlarged epiphysis of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Posterior pituitary hypoplasia\n", + " definition of HP:0011757 (Posterior pituitary hypoplasia)\n", + " \n", + " \n", + " Underdevelopment of the neurohypophysis.\n", + " definition of HP:0011757 (Posterior pituitary hypoplasia)\n", + " \n", + " \n", + " #Neurohypophysis hypoplasia\n", + " definition of HP:0011757 (Posterior pituitary hypoplasia)\n", + " \n", + " \n", + " Bouchard's node\n", + " definition of HP:0012314 (Bouchard's node)\n", + " \n", + " \n", + " Bony swelling of the proximal interphalangeal joint (PIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically.\n", + " definition of HP:0012314 (Bouchard's node)\n", + " \n", + " \n", + " Atrophodermia vermiculata\n", + " definition of HP:0100837 (Atrophodermia vermiculata)\n", + " \n", + " \n", + " Symmetrical vermiform facial atrophy that affects mainly the forehead, the chin, the ear lobes and helices. Atrophodermia vermiculata is characterized by erythema and follicular plugs on the cheeks, developing into painless reticular impressions.\n", + " definition of HP:0100837 (Atrophodermia vermiculata)\n", + " \n", + " \n", + " #Vermiculata atrophoderma\n", + " definition of HP:0100837 (Atrophodermia vermiculata)\n", + " \n", + " \n", + " Positive stool Giardia antigen test\n", + " definition of HP:6000324 (Positive stool Giardia antigen test)\n", + " \n", + " \n", + " Fecal analysis for Giardia antigen is abnormal. Tests include direct fluorescent-antibody (DFA), which detects intact organisms, and enzyme immunoassays (EIAs), which detect soluble stool antigens.\n", + " definition of HP:6000324 (Positive stool Giardia antigen test)\n", + " \n", + " \n", + " Abnormality of the epiphysis of the middle phalanx of the 3rd finger\n", + " definition of HP:0009334 (Abnormality of the epiphysis of the middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Abnormality of the middle part of the middle bone of the middle finger\n", + " definition of HP:0009334 (Abnormality of the epiphysis of the middle phalanx of the 3rd finger)\n", + " \n", + " \n", + " Reduced muscle fiber dysferlin\n", + " definition of HP:0030115 (Reduced muscle fiber dysferlin)\n", + " \n", + " \n", + " Immunohistochemistry reveals reduced dysferlin protein in the muscle biopsy.\n", + " definition of HP:0030115 (Reduced muscle fiber dysferlin)\n", + " \n", + " \n", + " #Reduced muscle fibre dysferlin\n", + " definition of HP:0030115 (Reduced muscle fiber dysferlin)\n", + " \n", + " \n", + " Cystic angiomatosis of bone\n", + " definition of HP:0002833 (Cystic angiomatosis of bone)\n", + " \n", + " \n", + " Disseminated multifocal hemangiomatous or lymphangiomatous lesions of the skeleton. The lesions are lytic, well-defined, round or oval lesions within the medullary cavity, and they have an intact cortex, and manifest variable peripheral sclerosis and may exhibit endosteal scalloping.\n", + " definition of HP:0002833 (Cystic angiomatosis of bone)\n", + " \n", + " \n", + " #Lytic cystic lesions in appendicular bones\n", + " definition of HP:0002833 (Cystic angiomatosis of bone)\n", + " \n", + " \n", + " Mitochondrial lysine transport defect\n", + " definition of HP:0008265 (Mitochondrial lysine transport defect)\n", + " \n", + " \n", + " Minimal mesangial lupus nephritis\n", + " definition of HP:0033729 (Minimal mesangial lupus nephritis)\n", + " \n", + " \n", + " A subclass of lupus nephritis with normal glomeruli by light microscopy, but mesangial immune deposits by immunofluorescence.\n", + " definition of HP:0033729 (Minimal mesangial lupus nephritis)\n", + " \n", + " \n", + " #Class I lupus nephritis\n", + " definition of HP:0033729 (Minimal mesangial lupus nephritis)\n", + " \n", + " \n", + " Hypoplastic sweat glands\n", + " definition of HP:0007387 (Hypoplastic sweat glands)\n", + " \n", + " \n", + " Underdevelopment of the sweat glands.\n", + " definition of HP:0007387 (Hypoplastic sweat glands)\n", + " \n", + " \n", + " #Underdeveloped sweat glands\n", + " definition of HP:0007387 (Hypoplastic sweat glands)\n", + " \n", + " \n", + " Podocyte infolding\n", + " definition of HP:0033483 (Podocyte infolding)\n", + " \n", + " \n", + " Folding of cytoplasmic processes of podocytes into the glomerular basement membrane (GBM) with thickening of the lamina densa and microspheres and/or microtubular structures within the GBM.\n", + " definition of HP:0033483 (Podocyte infolding)\n", + " \n", + " \n", + " Bracket epiphysis of the proximal phalanx of the 2nd toe\n", + " definition of HP:0100123 (Bracket epiphysis of the proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " #Bracket shaped end part of the innermost bone of the 2nd toe\n", + " definition of HP:0100123 (Bracket epiphysis of the proximal phalanx of the 2nd toe)\n", + " \n", + " \n", + " Lipid-laden lymph node macrophages\n", + " definition of HP:0034583 (Lipid-laden lymph node macrophages)\n", + " \n", + " \n", + " Lymph node with increased numbers of macrophages heavily laden with lipids.\n", + " definition of HP:0034583 (Lipid-laden lymph node macrophages)\n", + " \n", + " \n", + " Triangular epiphyses of the 3rd finger\n", + " definition of HP:0009420 (Triangular epiphyses of the 3rd finger)\n", + " \n", + " \n", + " A triangular appearance of the epiphyses of the 3rd finger of the hand.\n", + " definition of HP:0009420 (Triangular epiphyses of the 3rd finger)\n", + " \n", + " \n", + " #Delta-shaped epiphyses of the 3rd finger #Triangular end part of middle finger bone\n", + " definition of HP:0009420 (Triangular epiphyses of the 3rd finger)\n", + " \n", + " \n", + " Coarctation of the descending aortic arch\n", + " definition of HP:0012305 (Coarctation of the descending aortic arch)\n", + " \n", + " \n", + " Narrowing or constriction of the aorta localized to the region of the descending trunk of arch of aorta.\n", + " definition of HP:0012305 (Coarctation of the descending aortic arch)\n", + " \n", + " \n", + " Fractured elbow\n", + " definition of HP:0041219 (Fractured elbow)\n", + " \n", + " \n", + " A partial or complete breakage of the elbow.\n", + " definition of HP:0041219 (Fractured elbow)\n", + " \n", + " \n", + " #bone elbow\n", + " definition of HP:0041219 (Fractured elbow)\n", + " \n", + " \n", + " Vitreous hemorrhage\n", + " definition of HP:0007902 (Vitreous hemorrhage)\n", + " \n", + " \n", + " Bleeding within the vitreous compartment of the eye.\n", + " definition of HP:0007902 (Vitreous hemorrhage)\n", + " \n", + " \n", + " #Vitreous haemorrhage\n", + " definition of HP:0007902 (Vitreous hemorrhage)\n", + " \n", + " \n", + " Abnormality of the clivus\n", + " definition of HP:0010558 (Abnormality of the clivus)\n", + " \n", + " \n", + " An abnormality of the clivus, which is the inclined bony region of the posterior cranial fossa located between the sella turcica and the foramen magnum.\n", + " definition of HP:0010558 (Abnormality of the clivus)\n", + " \n", + " \n", + " Striae distensae\n", + " definition of HP:0001065 (Striae distensae)\n", + " \n", + " \n", + " Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders.\n", + " definition of HP:0001065 (Striae distensae)\n", + " \n", + " \n", + " #Purplish striae #Stretch marks #Striae #Striae atrophicae #Striae cutis distensae\n", + " definition of HP:0001065 (Striae distensae)\n", + " \n", + " \n", + " Renal intimal/medial arteriolitis\n", + " definition of HP:0033906 (Renal intimal/medial arteriolitis)\n", + " \n", + " \n", + " Inflammation of an arteriole of the kidney, which may involve only the intma or can be transmural.\n", + " definition of HP:0033906 (Renal intimal/medial arteriolitis)\n", + " \n", + " \n", + " EEG with photoparoxysmal response grade II\n", + " definition of HP:0011212 (EEG with photoparoxysmal response grade II)\n", + " \n", + " \n", + " Occurrence of epileptiform discharges in occipital and central regions during photic stimulation.\n", + " definition of HP:0011212 (EEG with photoparoxysmal response grade II)\n", + " \n", + " \n", + " Hyperproteinemia\n", + " definition of HP:0002152 (Hyperproteinemia)\n", + " \n", + " \n", + " An increased concentration of proteins in the blood.\n", + " definition of HP:0002152 (Hyperproteinemia)\n", + " \n", + " \n", + " Decreased diastolic blood pressure\n", + " definition of HP:0500104 (Decreased diastolic blood pressure)\n", + " \n", + " \n", + " Abnormal decrease in diastolic blood pressure.\n", + " definition of HP:0500104 (Decreased diastolic blood pressure)\n", + " \n", + " \n", + " #Decreased diastolic BP #Reduced diastolic blood pressure\n", + " definition of HP:0500104 (Decreased diastolic blood pressure)\n", + " \n", + " \n", + " Congenital blindness\n", + " definition of HP:0007875 (Congenital blindness)\n", + " \n", + " \n", + " Blindness with onset at birth.\n", + " definition of HP:0007875 (Congenital blindness)\n", + " \n", + " \n", + " #Blindness present at birth #Congenital amaurosis\n", + " definition of HP:0007875 (Congenital blindness)\n", + " \n", + " \n", + " Tessier number 5 facial cleft\n", + " definition of HP:0031577 (Tessier number 5 facial cleft)\n", + " \n", + " \n", + " The cleft of the lip is just medial to the oral commissure and extends across the cheek as a furrow. It ends as a cleft at the junction of the middle and lateral third of the lower eyelid. Microphthalmia is frequently present. The alveolar cleft is through the premolar region and extends superiorly through the orbit at the inferolateral part of the rim and floor. There is a vertical soft tissue deficiency between the lateral portion of the lip and the lower eyelid cleft. The left side of the nose shows vertical shortening, and the left alar base is displaced superiorly. Facial asymmetry secondary to the skeletal abnormality is reflected by a vertical orbital dystopia. However, bothglobes are normal, and there is no abnormality of the upper eyelids, eyebrow, forehead, or frontal hairline. The skeletal clefts vary, ranging from a narrow skeletal furrow that traverses the anterior maxillary wall as on the rightto a broad cleft of the maxilla lateral to the infraorbital foramen and maxillary sinus. This latter cleft enters the inferolateral orbital rim and floor without posterior communication with the inferior orbital fissure on the left side. Medial collapse of the lateral maxillary segments is present bilaterally, with reduction in the transverse dimensions of the maxillary arch. Manifestations of the skeletal disturbance in the sphenoid include a shortening and thickening of the lateral orbital walls in the region of the greater wing and mild asymmetric placement of the pterygoid plates relative to the midline. The right-sided pterygoid plates are smaller and closer to the midline. There is minimal asymmetry of the cranial base and calvarium.\n", + " definition of HP:0031577 (Tessier number 5 facial cleft)\n", + " \n", + " \n", + " Medial calcification of small arteries\n", + " definition of HP:0012458 (Medial calcification of small arteries)\n", + " \n", + " \n", + " Calcification, that is, pathological deposition of calcium salts in the tunica media of small arteries.\n", + " definition of HP:0012458 (Medial calcification of small arteries)\n", + " \n", + " \n", + " Granulocytosis\n", + " definition of HP:0032310 (Granulocytosis)\n", + " \n", + " \n", + " An increased count of granulocytes in the peripheral blood circulation.\n", + " definition of HP:0032310 (Granulocytosis)\n", + " \n", + " \n", + " L-2-hydroxyglutaric acidemia\n", + " definition of HP:0040147 (L-2-hydroxyglutaric acidemia)\n", + " \n", + " \n", + " Substantia nigra gliosis\n", + " definition of HP:0011960 (Substantia nigra gliosis)\n", + " \n", + " \n", + " Focal proliferation of glial cells in the substantia nigra.\n", + " definition of HP:0011960 (Substantia nigra gliosis)\n", + " \n", + " \n", + " Bullet-shaped middle phalanges of the hand\n", + " definition of HP:0009845 (Bullet-shaped middle phalanges of the hand)\n", + " \n", + " \n", + " Any of the middle phalanges with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction.\n", + " definition of HP:0009845 (Bullet-shaped middle phalanges of the hand)\n", + " \n", + " \n", + " Cervical subluxation\n", + " definition of HP:0003308 (Cervical subluxation)\n", + " \n", + " \n", + " A partial dislocation of one or more intervertebral joints in the cervical vertebral column.\n", + " definition of HP:0003308 (Cervical subluxation)\n", + " \n", + " \n", + " Vertebral artery calcification\n", + " definition of HP:0031308 (Vertebral artery calcification)\n", + " \n", + " \n", + " An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the vertebral artery.\n", + " definition of HP:0031308 (Vertebral artery calcification)\n", + " \n", + " \n", + " Hypoplasia of the small intestine\n", + " definition of HP:0004790 (Hypoplasia of the small intestine)\n", + " \n", + " \n", + " Underdevelopment of the small intestine.\n", + " definition of HP:0004790 (Hypoplasia of the small intestine)\n", + " \n", + " \n", + " #Underdeveloped small intestine\n", + " definition of HP:0004790 (Hypoplasia of the small intestine)\n", + " \n", + " \n", + " Decreased proportion of CD8-positive, alpha-beta TEMRA T cells\n", + " definition of HP:0500266 (Decreased proportion of CD8-positive, alpha-beta TEMRA T cells)\n", + " \n", + " \n", + " An decreased proportion of CD8-positive, alpha-beta effector memory RA TEMRA T cells compared to the total number of T cells in the blood. These cells have the phenotype CD45RA-positive, CD45RO-negative, and CCR7-negative.\n", + " definition of HP:0500266 (Decreased proportion of CD8-positive, alpha-beta TEMRA T cells)\n", + " \n", + " \n", + " #Decreased proportion effector memory CD8-positive, alpha-beta T cells, terminally differentiated\n", + " definition of HP:0500266 (Decreased proportion of CD8-positive, alpha-beta TEMRA T cells)\n", + " \n", + " \n", + " Hydropic placenta\n", + " definition of HP:0011414 (Hydropic placenta)\n", + " \n", + " \n", + " An abnormality of the placenta in which there are numerous cystic spaces within the placenta as well as placental enlargement.\n", + " definition of HP:0011414 (Hydropic placenta)\n", + " \n", + " \n", + " #Hydrops of the placenta\n", + " definition of HP:0011414 (Hydropic placenta)\n", + " \n", + " \n", + " Abnormal posterior eye segment morphology\n", + " definition of HP:0004329 (Abnormal posterior eye segment morphology)\n", + " \n", + " \n", + " #Abnormal morphology of the posterior segment of the globe #Abnormality of the posterior segment of the eye #Abnormality of the posterior segment of the eyeball #Abnormality of the posterior segment of the globe\n", + " definition of HP:0004329 (Abnormal posterior eye segment morphology)\n", + " \n", + " \n", + " Clumping of elastic fibers in the dermis\n", + " definition of HP:0025165 (Clumping of elastic fibers in the dermis)\n", + " \n", + " \n", + " Formation of clumps or aggregates that make up small protuberances from elastic fibers within the dermis (especially the reticular dermis).\n", + " definition of HP:0025165 (Clumping of elastic fibers in the dermis)\n", + " \n", + " \n", + " #Clumping of elastic fibres in the dermis\n", + " definition of HP:0025165 (Clumping of elastic fibers in the dermis)\n", + " \n", + " \n", + " Reduced tissue type II iodothyronine deiodinase activity\n", + " definition of HP:6000719 (Reduced tissue type II iodothyronine deiodinase activity)\n", + " \n", + " \n", + " Concentration or activity of type II iodothyronine deiodinase below the lower limit of normal. The activity can be measured in tissues such as cultured fibroblasts.\n", + " definition of HP:6000719 (Reduced tissue type II iodothyronine deiodinase activity)\n", + " \n", + " \n", + " Congenital stationary night blindness with abnormal fundus\n", + " definition of HP:0030639 (Congenital stationary night blindness with abnormal fundus)\n", + " \n", + " \n", + " Stippling of the epiphysis of the middle phalanx of the 3rd toe\n", + " definition of HP:0100155 (Stippling of the epiphysis of the middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the middle phalanx of the 3rd toe.\n", + " definition of HP:0100155 (Stippling of the epiphysis of the middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Speckled calcifications in the end part of the middle bone of the 3rd toe\n", + " definition of HP:0100155 (Stippling of the epiphysis of the middle phalanx of the 3rd toe)\n", + " \n", + " \n", + " High pulse pressure\n", + " definition of HP:0030852 (High pulse pressure)\n", + " \n", + " \n", + " Increased amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure).\n", + " definition of HP:0030852 (High pulse pressure)\n", + " \n", + " \n", + " Paravenous chorioretinal atrophy\n", + " definition of HP:0007903 (Paravenous chorioretinal atrophy)\n", + " \n", + " \n", + " Chorioretinal atrophy along the retinal veins.\n", + " definition of HP:0007903 (Paravenous chorioretinal atrophy)\n", + " \n", + " \n", + " Absent microvilli on the surface of peripheral blood lymphocytes\n", + " definition of HP:0002971 (Absent microvilli on the surface of peripheral blood lymphocytes)\n", + " \n", + " \n", + " Absence of the fingerlike protrusive, actin-dependent structures found on the surface of peripheral blood lymphocytes.\n", + " definition of HP:0002971 (Absent microvilli on the surface of peripheral blood lymphocytes)\n", + " \n", + " \n", + " Glomerular hyalinosis at the tubular pole\n", + " definition of HP:0033218 (Glomerular hyalinosis at the tubular pole)\n", + " \n", + " \n", + " Accumulation of amorphous, eosinophilic, glassy, periodic acid-Schiff (PAS)-positive, silver-negative material in the glomerulus at the tip/tubular pole.\n", + " definition of HP:0033218 (Glomerular hyalinosis at the tubular pole)\n", + " \n", + " \n", + " Proximal phalangeal periosteal thickening\n", + " definition of HP:0006175 (Proximal phalangeal periosteal thickening)\n", + " \n", + " \n", + " EEG with polyspike wave complexes\n", + " definition of HP:0002392 (EEG with polyspike wave complexes)\n", + " \n", + " \n", + " The presence of complexes of repetitive spikes and waves in EEG.\n", + " definition of HP:0002392 (EEG with polyspike wave complexes)\n", + " \n", + " \n", + " #EEG: spike and multispike waves, 3-4 hz\n", + " definition of HP:0002392 (EEG with polyspike wave complexes)\n", + " \n", + " \n", + " Intratubular myoglobin cast\n", + " definition of HP:0032634 (Intratubular myoglobin cast)\n", + " \n", + " \n", + " Casts located within the tubuli of the kidney and that contain myoglobin. Myoglobin casts are composed of round granules that may line up in chains or aggregate in clusters. Their color ranges from pink to red-brown with hematoxylin and eosin stain, light brown to black with Jones methenamine silver stain, pink to bright magenta with periodic acid-Schiff stain, and bright red with trichrome stain. Immunoperoxidase staining with antibody to myoglobin is stronglypositive in the casts.Electron microscopy shows globular casts with an electron-dense core and a somewhat less-intense periphery. Substructure is absent. This feature may be accompanied by acute tubular injury with variable flattening of tubular epithelial cells, loss of brush borders, and intratubular sloughed epithelial cells.\n", + " definition of HP:0032634 (Intratubular myoglobin cast)\n", + " \n", + " \n", + " Glomerular basement membranes powdery deposit\n", + " definition of HP:0033487 (Glomerular basement membranes powdery deposit)\n", + " \n", + " \n", + " Punctate electron-dense material typically in a band-like distribution along the lamina rara interna and within tubular basement membranes within the subendothelial aspect of the glomerular basement membrane.\n", + " definition of HP:0033487 (Glomerular basement membranes powdery deposit)\n", + " \n", + " \n", + " #Glomerular basement membranes with powdery deposit\n", + " definition of HP:0033487 (Glomerular basement membranes powdery deposit)\n", + " \n", + " \n", + " Prominent nasal tip\n", + " definition of HP:0005274 (Prominent nasal tip)\n", + " \n", + " \n", + " #Large nasal tip #Large tip of nose #Prominent nasal tip #Prominent tip of nose #Pronounced nasal tip #Pronounced tip of nose\n", + " definition of HP:0005274 (Prominent nasal tip)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the cerebellar vermis\n", + " definition of HP:0006817 (Aplasia/Hypoplasia of the cerebellar vermis)\n", + " \n", + " \n", + " Absence or underdevelopment of the vermis of cerebellum.\n", + " definition of HP:0006817 (Aplasia/Hypoplasia of the cerebellar vermis)\n", + " \n", + " \n", + " #Cerebellar vermis aplasia/hypoplasia #Hypo/aplastic vermis\n", + " definition of HP:0006817 (Aplasia/Hypoplasia of the cerebellar vermis)\n", + " \n", + " \n", + " Hyperextensible thumb\n", + " definition of HP:0005722 (Hyperextensible thumb)\n", + " \n", + " \n", + " The ability of the thumb joints to move beyond their normal range of motion.\n", + " definition of HP:0005722 (Hyperextensible thumb)\n", + " \n", + " \n", + " #Double jointed thumb\n", + " definition of HP:0005722 (Hyperextensible thumb)\n", + " \n", + " \n", + " Absent foveal reflex\n", + " definition of HP:0030825 (Absent foveal reflex)\n", + " \n", + " \n", + " Lack of the foveal reflex, which normally occurs as a result of the reflection of light from the ophthalmoscope in the foveal pit upon examination. The foveal reflex is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope.\n", + " definition of HP:0030825 (Absent foveal reflex)\n", + " \n", + " \n", + " #Foveal reflex absent #Loss of foveal reflex\n", + " definition of HP:0030825 (Absent foveal reflex)\n", + " \n", + " \n", + " Prolonged G2 phase of cell cycle\n", + " definition of HP:0003214 (Prolonged G2 phase of cell cycle)\n", + " \n", + " \n", + " Bradylalia\n", + " definition of HP:5200038 (Bradylalia)\n", + " \n", + " \n", + " Speech that is abnormally slow as compared to the perceived cultural norm.\n", + " definition of HP:5200038 (Bradylalia)\n", + " \n", + " \n", + " #Bradylogia #Slow speech\n", + " definition of HP:5200038 (Bradylalia)\n", + " \n", + " \n", + " Secretory IgA deficiency\n", + " definition of HP:0004433 (Secretory IgA deficiency)\n", + " \n", + " \n", + " Deficiency of secretory IgA (polymers of 2-4 IgA monomers are linked by two additional chains) and is the primary antibody response at the mucosal level, where it forms immune complexes with pathogens and allergens.\n", + " definition of HP:0004433 (Secretory IgA deficiency)\n", + " \n", + " \n", + " Testicular gonadoblastoma\n", + " definition of HP:0000030 (Testicular gonadoblastoma)\n", + " \n", + " \n", + " The presence of a gonadoblastoma of the testis.\n", + " definition of HP:0000030 (Testicular gonadoblastoma)\n", + " \n", + " \n", + " Short distal phalanx of the 3rd finger\n", + " definition of HP:0004180 (Short distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Hypoplasia (congenital reduction in size) of the distal phalanx of the third finger.\n", + " definition of HP:0004180 (Short distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Hypoplastic/small distal phalanx of the 3rd finger #Short distal phalanx of the third finger #Short outermost bone of the middle finger #Short terminal phalanx of middle finger\n", + " definition of HP:0004180 (Short distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Small intestinal dysmotility\n", + " definition of HP:0012850 (Small intestinal dysmotility)\n", + " \n", + " \n", + " Abnormal small intestinal contractions, such as spasms and intestinal paralysis related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes.\n", + " definition of HP:0012850 (Small intestinal dysmotility)\n", + " \n", + " \n", + " Chronic oral candidiasis\n", + " definition of HP:0009098 (Chronic oral candidiasis)\n", + " \n", + " \n", + " Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx.\n", + " definition of HP:0009098 (Chronic oral candidiasis)\n", + " \n", + " \n", + " #Chronic oral thrush\n", + " definition of HP:0009098 (Chronic oral candidiasis)\n", + " \n", + " \n", + " Decreased mean corpuscular volume\n", + " definition of HP:0025066 (Decreased mean corpuscular volume)\n", + " \n", + " \n", + " A reduction from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells (usually defined as an MCV below 80 femtoliters).\n", + " definition of HP:0025066 (Decreased mean corpuscular volume)\n", + " \n", + " \n", + " #Decreased MCV #Microcytosis #Reduced erythrocyte volume\n", + " definition of HP:0025066 (Decreased mean corpuscular volume)\n", + " \n", + " \n", + " Generalized hypertrichosis\n", + " definition of HP:0004554 (Generalized hypertrichosis)\n", + " \n", + " \n", + " Generalized excessive, abnormal hairiness.\n", + " definition of HP:0004554 (Generalized hypertrichosis)\n", + " \n", + " \n", + " #Generalised hypertrichosis\n", + " definition of HP:0004554 (Generalized hypertrichosis)\n", + " \n", + " \n", + " T2 hyperintense cerebellar lesion\n", + " definition of HP:6000416 (T2 hyperintense cerebellar lesion)\n", + " \n", + " \n", + " A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the cerebellum. This term refers to a localized hyperintensity affecting a particular region of the cerebellum.\n", + " definition of HP:6000416 (T2 hyperintense cerebellar lesion)\n", + " \n", + " \n", + " #T2 hyperintensities in cerebellum\n", + " definition of HP:6000416 (T2 hyperintense cerebellar lesion)\n", + " \n", + " \n", + " History of recent contralateral injury\n", + " definition of HP:4000151 (History of recent contralateral injury)\n", + " \n", + " \n", + " A history of an injury that occurred several hours, days, or weeks before the current presenting complaint and is located on the other side of the body relative to the current presenting complaint.\n", + " definition of HP:4000151 (History of recent contralateral injury)\n", + " \n", + " \n", + " Chronic lactic acidosis\n", + " definition of HP:0004925 (Chronic lactic acidosis)\n", + " \n", + " \n", + " A chronic form of lactic acidemia.\n", + " definition of HP:0004925 (Chronic lactic acidosis)\n", + " \n", + " \n", + " Medial arterial calcification\n", + " definition of HP:0012456 (Medial arterial calcification)\n", + " \n", + " \n", + " Calcification, that is, pathological deposition of calcium salts in the tunica media of arteries.\n", + " definition of HP:0012456 (Medial arterial calcification)\n", + " \n", + " \n", + " Sacralization of the fifth lumbar vertebra\n", + " definition of HP:0030125 (Sacralization of the fifth lumbar vertebra)\n", + " \n", + " \n", + " A congenital anomaly, in which the transverse process of the last lumbar vertebra (L5) fuses to the sacrum on one side or both, or to ilium, or both.\n", + " definition of HP:0030125 (Sacralization of the fifth lumbar vertebra)\n", + " \n", + " \n", + " #L5 sacralization\n", + " definition of HP:0030125 (Sacralization of the fifth lumbar vertebra)\n", + " \n", + " \n", + " Delayed ability to stand\n", + " definition of HP:0025335 (Delayed ability to stand)\n", + " \n", + " \n", + " A failure to achieve the ability to stand up at an appropriate developmental stage. Most children begin to walk alone at 11 to 15 months of age. On average, children can stand while holding on at the age of 9 to 10 months, can pull up to stand and walk with one hand being held at 12 months, and can stand alone and walk well at 18 months.\n", + " definition of HP:0025335 (Delayed ability to stand)\n", + " \n", + " \n", + " Preimplantation lethality\n", + " definition of HP:0032479 (Preimplantation lethality)\n", + " \n", + " \n", + " It is estimated that about 40-70 percent of human embryos produced in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) are viable embryos, whereas others arrest at different early stages of development. The phenotype of preimplantation lethality is inferred if IVF and ICSI cycles fail because all of an individual's embryos are arrested at early stages of development.\n", + " definition of HP:0032479 (Preimplantation lethality)\n", + " \n", + " \n", + " #Early embryonic arrest #Preimplantation embryonic lethality\n", + " definition of HP:0032479 (Preimplantation lethality)\n", + " \n", + " \n", + " Ocular melanocytosis\n", + " definition of HP:0025534 (Ocular melanocytosis)\n", + " \n", + " \n", + " A congenital lesion of the sclera characterized by unilateral patchy but extensive slate-gray or bluish discoloration of the sclera . The conjunctiva are spared.\n", + " definition of HP:0025534 (Ocular melanocytosis)\n", + " \n", + " \n", + " #Melanosis oculi #Ocular melanosis\n", + " definition of HP:0025534 (Ocular melanocytosis)\n", + " \n", + " \n", + " Olecranon fracture\n", + " definition of HP:6000002 (Olecranon fracture)\n", + " \n", + " \n", + " A partial or complete break in the olecranon,which is the proximal articular portion of the ulna and makes up part of the elbow.\n", + " definition of HP:6000002 (Olecranon fracture)\n", + " \n", + " \n", + " Abnormality of the vestibular window\n", + " definition of HP:0040100 (Abnormality of the vestibular window)\n", + " \n", + " \n", + " #Abnormality of the oval window\n", + " definition of HP:0040100 (Abnormality of the vestibular window)\n", + " \n", + " \n", + " Abnormality of the capitate bone\n", + " definition of HP:0004262 (Abnormality of the capitate bone)\n", + " \n", + " \n", + " Decreased circulating IgG3 concentration\n", + " definition of HP:0032137 (Decreased circulating IgG3 concentration)\n", + " \n", + " \n", + " A reduction in immunoglobulin levels of the IgG3 subclass in the blood circulation.\n", + " definition of HP:0032137 (Decreased circulating IgG3 concentration)\n", + " \n", + " \n", + " #Decreased circulating IgG3 level #Decreased IgG3 level in blood\n", + " definition of HP:0032137 (Decreased circulating IgG3 concentration)\n", + " \n", + " \n", + " Mirror image polydactyly\n", + " definition of HP:0010689 (Mirror image polydactyly)\n", + " \n", + " \n", + " A hand or foot with more than five digits that has a recognizable A/P axis of symmetry. The axis can lie within a normally formed or partially duplicated digit resembling a middle finger, index finger, thumb, toe, or hallux. Alternatively, the axis can be in an interdigital space with a flanking pair of digits that resemble a middle finger, index finger, thumb, toe or hallux. The most lateral digits on each side of the hand/foot typically resemble fifth fingers/toes.\n", + " definition of HP:0010689 (Mirror image polydactyly)\n", + " \n", + " \n", + " #Mirror image duplication of digits\n", + " definition of HP:0010689 (Mirror image polydactyly)\n", + " \n", + " \n", + " Proximal finger joint hyperextensibility\n", + " definition of HP:0005190 (Proximal finger joint hyperextensibility)\n", + " \n", + " \n", + " Reduced tissue alpha-N-acetylgalactosaminidase activity\n", + " definition of HP:4000202 (Reduced tissue alpha-N-acetylgalactosaminidase activity)\n", + " \n", + " \n", + " Concentration or activity of alpha-N-acetylgalactosaminidase (EC 3.2.1.49) is below the limits of normal. The activity can be measured in multiple tissues including cultured fibroblasts.\n", + " definition of HP:4000202 (Reduced tissue alpha-N-acetylgalactosaminidase activity)\n", + " \n", + " \n", + " Rib fusion\n", + " definition of HP:0000902 (Rib fusion)\n", + " \n", + " \n", + " Complete or partial merging of adjacent ribs.\n", + " definition of HP:0000902 (Rib fusion)\n", + " \n", + " \n", + " #Fused ribs #Rib fusion\n", + " definition of HP:0000902 (Rib fusion)\n", + " \n", + " \n", + " Olivary degeneration\n", + " definition of HP:0008303 (Olivary degeneration)\n", + " \n", + " \n", + " Degeneration of the olivary bodies, prominent oval structures in the medulla oblongata.\n", + " definition of HP:0008303 (Olivary degeneration)\n", + " \n", + " \n", + " Aplasia of the inferior half of the cerebellar vermis\n", + " definition of HP:0007063 (Aplasia of the inferior half of the cerebellar vermis)\n", + " \n", + " \n", + " #Absent inferior half of the cerebellar vermis\n", + " definition of HP:0007063 (Aplasia of the inferior half of the cerebellar vermis)\n", + " \n", + " \n", + " Anarthria\n", + " definition of HP:0002425 (Anarthria)\n", + " \n", + " \n", + " A defect in the motor ability that enables speech.\n", + " definition of HP:0002425 (Anarthria)\n", + " \n", + " \n", + " #Loss of articulate speech\n", + " definition of HP:0002425 (Anarthria)\n", + " \n", + " \n", + " Focal impaired awareness cognitive seizure with receptive dysphasia/aphasia\n", + " definition of HP:0032793 (Focal impaired awareness cognitive seizure with receptive dysphasia/aphasia)\n", + " \n", + " \n", + " A focal cognitive seizure with receptive dysphasia / aphasia characterized by impairment of awareness at some point during the seizure.\n", + " definition of HP:0032793 (Focal impaired awareness cognitive seizure with receptive dysphasia/aphasia)\n", + " \n", + " \n", + " Profuse pigmented skin lesions\n", + " definition of HP:0005587 (Profuse pigmented skin lesions)\n", + " \n", + " \n", + " Abnormal language feature\n", + " definition of HP:4000072 (Abnormal language feature)\n", + " \n", + " \n", + " The presence of any atypical form of expressive language.\n", + " definition of HP:4000072 (Abnormal language feature)\n", + " \n", + " \n", + " Supernumerary maxillary incisor\n", + " definition of HP:0006332 (Supernumerary maxillary incisor)\n", + " \n", + " \n", + " The presence of a supernumerary, i.e., extra, maxillary incisor, either the primary maxillary incisor or the permanent maxillary incisor.\n", + " definition of HP:0006332 (Supernumerary maxillary incisor)\n", + " \n", + " \n", + " #Extra upper front tooth\n", + " definition of HP:0006332 (Supernumerary maxillary incisor)\n", + " \n", + " \n", + " Abnormal greater sciatic notch morphology\n", + " definition of HP:0010456 (Abnormal greater sciatic notch morphology)\n", + " \n", + " \n", + " An abnormality of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium.\n", + " definition of HP:0010456 (Abnormal greater sciatic notch morphology)\n", + " \n", + " \n", + " #Abnormality of greater sciatic notch #Abnormality of the greater sacrosciatic notch #Abnormality of the sacroiliac notch\n", + " definition of HP:0010456 (Abnormal greater sciatic notch morphology)\n", + " \n", + " \n", + " Craniosynostosis\n", + " definition of HP:0001363 (Craniosynostosis)\n", + " \n", + " \n", + " Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.\n", + " definition of HP:0001363 (Craniosynostosis)\n", + " \n", + " \n", + " #Cranial suture synostosis #Craniosyostosis #Early fusion of cranial sutures #Premature closure of cranial sutures #Premature fontanel closure #Premature suture closure\n", + " definition of HP:0001363 (Craniosynostosis)\n", + " \n", + " \n", + " Sputum infectious agent\n", + " definition of HP:0430107 (Sputum infectious agent)\n", + " \n", + " \n", + " The presence of an infectious agent in the sputum, as characterized by sputum culture or other investigation.\n", + " definition of HP:0430107 (Sputum infectious agent)\n", + " \n", + " \n", + " Fever\n", + " definition of HP:0001945 (Fever)\n", + " \n", + " \n", + " Body temperature elevated above the normal range.\n", + " definition of HP:0001945 (Fever)\n", + " \n", + " \n", + " #Fever #Hyperthermia #Pyrexia\n", + " definition of HP:0001945 (Fever)\n", + " \n", + " \n", + " Abnormal glomerular visceral epithelial cell morphology\n", + " definition of HP:0031265 (Abnormal glomerular visceral epithelial cell morphology)\n", + " \n", + " \n", + " Any structural anomaly of the podocyte, which is a highly specialized cell of the Bowman capsule and which forms multiple interdigitating foot processes. Podocytes are interconnected by slit diaphragms and cover the exterior basement membrane surface of the glomerular capillary.\n", + " definition of HP:0031265 (Abnormal glomerular visceral epithelial cell morphology)\n", + " \n", + " \n", + " #Abnormal podocyte morphology #Abnormal visceral epithelial cell morphology\n", + " definition of HP:0031265 (Abnormal glomerular visceral epithelial cell morphology)\n", + " \n", + " \n", + " Fibrous syngnathia\n", + " definition of HP:0009754 (Fibrous syngnathia)\n", + " \n", + " \n", + " Complete or nearly complete soft tissue fusion of the alveolar ridges.\n", + " definition of HP:0009754 (Fibrous syngnathia)\n", + " \n", + " \n", + " #Alveolar synechiae #Fusion of the alveolar ridges\n", + " definition of HP:0009754 (Fibrous syngnathia)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the fifth metatarsal bone\n", + " definition of HP:0040033 (Aplasia/Hypoplasia of the fifth metatarsal bone)\n", + " \n", + " \n", + " #Absent/small 5th long bone of foot #Absent/underdeveloped 5th long bone of foot\n", + " definition of HP:0040033 (Aplasia/Hypoplasia of the fifth metatarsal bone)\n", + " \n", + " \n", + " Scimitar anomaly\n", + " definition of HP:0011626 (Scimitar anomaly)\n", + " \n", + " \n", + " Right pulmonary venous return to the inferior vena cava.\n", + " definition of HP:0011626 (Scimitar anomaly)\n", + " \n", + " \n", + " #Pulmonary venolobar syndrome #Scimitar syndrome\n", + " definition of HP:0011626 (Scimitar anomaly)\n", + " \n", + " \n", + " Dysharmonic maturation of the hand bones\n", + " definition of HP:0004053 (Dysharmonic maturation of the hand bones)\n", + " \n", + " \n", + " Pattern of hand-wrist development does not fit the normal sequence of ossification of the individual bones of the hand.\n", + " definition of HP:0004053 (Dysharmonic maturation of the hand bones)\n", + " \n", + " \n", + " #Disharmonic maturation of the hand bones #Dysharmonic ossification of the hand bones\n", + " definition of HP:0004053 (Dysharmonic maturation of the hand bones)\n", + " \n", + " \n", + " Laryngeal hemangioma\n", + " definition of HP:0410271 (Laryngeal hemangioma)\n", + " \n", + " \n", + " A hemangioma, a benign tumor of the vascular endothelial cells, that is located in the glottic or supraglottic regions.\n", + " definition of HP:0410271 (Laryngeal hemangioma)\n", + " \n", + " \n", + " #Throat hemangioma\n", + " definition of HP:0410271 (Laryngeal hemangioma)\n", + " \n", + " \n", + " Generalized hypotonia\n", + " definition of HP:0001290 (Generalized hypotonia)\n", + " \n", + " \n", + " Generalized muscular hypotonia (abnormally low muscle tone).\n", + " definition of HP:0001290 (Generalized hypotonia)\n", + " \n", + " \n", + " #Generalised decreased muscle tone #Generalised hypotonia #Generalised muscular hypotonia #Generalized decreased muscle tone #Generalized muscular hypotonia #Hypotonia, generalised #Hypotonia, generalized\n", + " definition of HP:0001290 (Generalized hypotonia)\n", + " \n", + " \n", + " Cone-shaped distal tibial epiphysis\n", + " definition of HP:6000778 (Cone-shaped distal tibial epiphysis)\n", + " \n", + " \n", + " The distal epiphysis (rounded portion of bone at the far end of the tibia distal to the growth plate) has an abnormal cone-shaped appearance, that is, the epiphysis has a globular form at the bottom, tapering to a point at the top.\n", + " definition of HP:6000778 (Cone-shaped distal tibial epiphysis)\n", + " \n", + " \n", + " Abnormal peripheral nerve morphology by anatomical site\n", + " definition of HP:0045010 (Abnormal peripheral nerve morphology by anatomical site)\n", + " \n", + " \n", + " Abnormal morphology of a specific peripheral nerve\n", + " definition of HP:0045010 (Abnormal peripheral nerve morphology by anatomical site)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the distal phalanx of the 5th finger\n", + " definition of HP:0009239 (Aplasia/Hypoplasia of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " #Absent/small outermost bone of little finger #Absent/small outermost bone of pinkie finger #Absent/small outermost bone of pinky finger #Absent/underdeveloped outermost bone of pinky finger\n", + " definition of HP:0009239 (Aplasia/Hypoplasia of the distal phalanx of the 5th finger)\n", + " \n", + " \n", + " Interphalangeal joint erosions\n", + " definition of HP:0006252 (Interphalangeal joint erosions)\n", + " \n", + " \n", + " Patent foramen ovale\n", + " definition of HP:0001655 (Patent foramen ovale)\n", + " \n", + " \n", + " Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria.\n", + " definition of HP:0001655 (Patent foramen ovale)\n", + " \n", + " \n", + " #Persistent foramen ovale\n", + " definition of HP:0001655 (Patent foramen ovale)\n", + " \n", + " \n", + " Elevated circulating dihydrouracil concentration\n", + " definition of HP:0034593 (Elevated circulating dihydrouracil concentration)\n", + " \n", + " \n", + " An increased concentration of dihydrouracil in the blood circulation. Dihydrouracil is an intermediate in the catabolism of uracil that is also known as 5,6-dihydrouracil.\n", + " definition of HP:0034593 (Elevated circulating dihydrouracil concentration)\n", + " \n", + " \n", + " #Dihydrouracil high in blood #Elevated circulating 5,6-dihydrouracil concentration\n", + " definition of HP:0034593 (Elevated circulating dihydrouracil concentration)\n", + " \n", + " \n", + " Lupus anticoagulant\n", + " definition of HP:0025343 (Lupus anticoagulant)\n", + " \n", + " \n", + " Presence of lupus anticoagulant (LA) autoantibodies. LA represent a heterogeneous group of autoantibodies, IgG, IgM, or a mixture of both classes, that interfere with standard phospholipid-based coagulant tests (this is only an in vitro phenomenon, LA do not cause reduction of coagulation in vivo). The antibodies are directed against plasma proteins which also bind to phospholipid surfaces.\n", + " definition of HP:0025343 (Lupus anticoagulant)\n", + " \n", + " \n", + " Paratracheal lymphadenopathy\n", + " definition of HP:0033280 (Paratracheal lymphadenopathy)\n", + " \n", + " \n", + " Enlargement of lymph nodes surrounding the trachea.\n", + " definition of HP:0033280 (Paratracheal lymphadenopathy)\n", + " \n", + " \n", + " Enlarged flash visual evoked potentials\n", + " definition of HP:0008045 (Enlarged flash visual evoked potentials)\n", + " \n", + " \n", + " #High flash visual evoked potentials\n", + " definition of HP:0008045 (Enlarged flash visual evoked potentials)\n", + " \n", + " \n", + " Reduced frequency of facial expressions\n", + " definition of HP:4000075 (Reduced frequency of facial expressions)\n", + " \n", + " \n", + " The number of times facial expressions are produced in a given period is lower than expected given the social and cultural context.\n", + " definition of HP:4000075 (Reduced frequency of facial expressions)\n", + " \n", + " \n", + " Tubulointerstitial bacterial infiltration\n", + " definition of HP:0020204 (Tubulointerstitial bacterial infiltration)\n", + " \n", + " \n", + " Tubulointerstitial infiltration of bacteria identified on routine and/or special (Brown-Hopps) stains.\n", + " definition of HP:0020204 (Tubulointerstitial bacterial infiltration)\n", + " \n", + " \n", + " #Renal tubulointerstitial bacterial organisms\n", + " definition of HP:0020204 (Tubulointerstitial bacterial infiltration)\n", + " \n", + " \n", + " Hepatitis\n", + " definition of HP:0012115 (Hepatitis)\n", + " \n", + " \n", + " Inflammation of the liver.\n", + " definition of HP:0012115 (Hepatitis)\n", + " \n", + " \n", + " #Liver inflammation\n", + " definition of HP:0012115 (Hepatitis)\n", + " \n", + " \n", + " Enlarged sagittal diameter of the cervical canal\n", + " definition of HP:0005878 (Enlarged sagittal diameter of the cervical canal)\n", + " \n", + " \n", + " Limb hypertonia\n", + " definition of HP:0002509 (Limb hypertonia)\n", + " \n", + " \n", + " #Appendicular hypertonia #Increased muscle tone of arm or leg\n", + " definition of HP:0002509 (Limb hypertonia)\n", + " \n", + " \n", + " Bloodstream Malaria parasite\n", + " definition of HP:6000553 (Bloodstream Malaria parasite)\n", + " \n", + " \n", + " Presence of malaria parasites in the peripheral blood.\n", + " definition of HP:6000553 (Bloodstream Malaria parasite)\n", + " \n", + " \n", + " Decreased KCO\n", + " definition of HP:0033374 (Decreased KCO)\n", + " \n", + " \n", + " Decreased diffusion capacity of the lung for carbon monoxide (CO) rate constant (efficiency index).\n", + " definition of HP:0033374 (Decreased KCO)\n", + " \n", + " \n", + " Polymicrogyria\n", + " definition of HP:0002126 (Polymicrogyria)\n", + " \n", + " \n", + " Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds).\n", + " definition of HP:0002126 (Polymicrogyria)\n", + " \n", + " \n", + " #More grooves in brain\n", + " definition of HP:0002126 (Polymicrogyria)\n", + " \n", + " \n", + " Abnormal regional left ventricular contraction\n", + " definition of HP:0031482 (Abnormal regional left ventricular contraction)\n", + " \n", + " \n", + " A wall motion abnormality observed upon left ventricular contraction that affects a specific region of the left ventricle.\n", + " definition of HP:0031482 (Abnormal regional left ventricular contraction)\n", + " \n", + " \n", + " Pulmonary amyloidosis\n", + " definition of HP:0033247 (Pulmonary amyloidosis)\n", + " \n", + " \n", + " Extracellular deposition in lung tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding.\n", + " definition of HP:0033247 (Pulmonary amyloidosis)\n", + " \n", + " \n", + " Abnormal number of tubercles\n", + " definition of HP:0040112 (Abnormal number of tubercles)\n", + " \n", + " \n", + " Reduced residual volume\n", + " definition of HP:0033753 (Reduced residual volume)\n", + " \n", + " \n", + " Abnormal decrease in the amount of air remaining in a person's lungs after full exhalation.\n", + " definition of HP:0033753 (Reduced residual volume)\n", + " \n", + " \n", + " Increased myocardial glycogen content\n", + " definition of HP:0034532 (Increased myocardial glycogen content)\n", + " \n", + " \n", + " Elevated amount of glycogen in the myocardium.\n", + " definition of HP:0034532 (Increased myocardial glycogen content)\n", + " \n", + " \n", + " #Increased glycogen in myocardium\n", + " definition of HP:0034532 (Increased myocardial glycogen content)\n", + " \n", + " \n", + " Late onset congenital glaucoma\n", + " definition of HP:0008041 (Late onset congenital glaucoma)\n", + " \n", + " \n", + " Sertoli cell-only phenotype\n", + " definition of HP:0034299 (Sertoli cell-only phenotype)\n", + " \n", + " \n", + " A histological phenotype observed on testicular biopsy in which only Sertoli cells line the seminiferous tubules of the testis.\n", + " definition of HP:0034299 (Sertoli cell-only phenotype)\n", + " \n", + " \n", + " Reduced circulating alpha-1,3-fucosyltransferase activity\n", + " definition of HP:6000512 (Reduced circulating alpha-1,3-fucosyltransferase activity)\n", + " \n", + " \n", + " Concentration or activity of alpha-1,3-fucosyltransferase is below the lower limit of normal in the blood circulation.\n", + " definition of HP:6000512 (Reduced circulating alpha-1,3-fucosyltransferase activity)\n", + " \n", + " \n", + " Reduced 3-beta-hydroxysteroid-delta-5-desaturase activity in cultured fibroblasts\n", + " definition of HP:6000199 (Reduced 3-beta-hydroxysteroid-delta-5-desaturase activity in cultured fibroblasts)\n", + " \n", + " \n", + " Activity of 3-beta-hydroxysteroid-delta-5-desaturase, also known as Sterol C5-desaturase (EC 1.3.3.2), or SC5D below the lower limit of normal in cultured fibroblasts.\n", + " definition of HP:6000199 (Reduced 3-beta-hydroxysteroid-delta-5-desaturase activity in cultured fibroblasts)\n", + " \n", + " \n", + " Pericallosal lipoma\n", + " definition of HP:0006931 (Pericallosal lipoma)\n", + " \n", + " \n", + " Pericallosal lipomas are congenital soft masses of adipose cells encapsulated by a thin layer of fibrous tissue, appearing adjacent to the corpus callosum of the brain.\n", + " definition of HP:0006931 (Pericallosal lipoma)\n", + " \n", + " \n", + " #Lipoma of corpus callosum\n", + " definition of HP:0006931 (Pericallosal lipoma)\n", + " \n", + " \n", + " Elevated circulating hydroxyphenlyllactic acid concentration\n", + " definition of HP:0033326 (Elevated circulating hydroxyphenlyllactic acid concentration)\n", + " \n", + " \n", + " An increased concentration of 4-hydroxyphenlyllactic acid in the blood circulation.\n", + " definition of HP:0033326 (Elevated circulating hydroxyphenlyllactic acid concentration)\n", + " \n", + " \n", + " Hemihypsarrhythmia\n", + " definition of HP:0011215 (Hemihypsarrhythmia)\n", + " \n", + " \n", + " Hypsarrhythmia occurring in one hemisphere.\n", + " definition of HP:0011215 (Hemihypsarrhythmia)\n", + " \n", + " \n", + " High lymph node non-germinal center mitotic activity\n", + " definition of HP:0020273 (High lymph node non-germinal center mitotic activity)\n", + " \n", + " \n", + " Increased numbers of mitotic figures outside of germinal centers.\n", + " definition of HP:0020273 (High lymph node non-germinal center mitotic activity)\n", + " \n", + " \n", + " Low serum osmolality\n", + " definition of HP:6000680 (Low serum osmolality)\n", + " \n", + " \n", + " Serum osmolality, which is defined as the sum of the osmolalities of every single dissolved particle in the blood such as sodium and associated anions, potassium, glucose, and urea, is below the lower limit of normal.\n", + " definition of HP:6000680 (Low serum osmolality)\n", + " \n", + " \n", + " Anti-hexokinase-1 antibody positivity\n", + " definition of HP:0034114 (Anti-hexokinase-1 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against hexokinase-1.\n", + " definition of HP:0034114 (Anti-hexokinase-1 antibody positivity)\n", + " \n", + " \n", + " #Anti-HK-1 antibody positivity\n", + " definition of HP:0034114 (Anti-hexokinase-1 antibody positivity)\n", + " \n", + " \n", + " Fused cervical vertebrae\n", + " definition of HP:0002949 (Fused cervical vertebrae)\n", + " \n", + " \n", + " A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another.\n", + " definition of HP:0002949 (Fused cervical vertebrae)\n", + " \n", + " \n", + " #Cervical spine fusion #Cervical vertebral fusion #Fused neck #Fusion of cervical vertebrae\n", + " definition of HP:0002949 (Fused cervical vertebrae)\n", + " \n", + " \n", + " Large knee\n", + " definition of HP:0030866 (Large knee)\n", + " \n", + " \n", + " Abnormally increased size of the knee joint.\n", + " definition of HP:0030866 (Large knee)\n", + " \n", + " \n", + " Aplasia cutis congenita over the scalp vertex\n", + " definition of HP:0004471 (Aplasia cutis congenita over the scalp vertex)\n", + " \n", + " \n", + " A developmental defect resulting in the congenital absence of skin on the scalp vertex, often just lateral to the midline.\n", + " definition of HP:0004471 (Aplasia cutis congenita over the scalp vertex)\n", + " \n", + " \n", + " #Absent cutis congenita of vertex #Aplasia cutis congenita of vertex\n", + " definition of HP:0004471 (Aplasia cutis congenita over the scalp vertex)\n", + " \n", + " \n", + " Nuchal rigidity\n", + " definition of HP:0031179 (Nuchal rigidity)\n", + " \n", + " \n", + " Resistance of the extensor muscles of the neck to being bent forwards (i.e., impaired neck flexion) as a result of muscle spasm of the extensor muscles of the neck. Nuchal rigidity is not a fixed rigidity. Nuchal rigidity has been used as a bedside test for meningism, although its sensitivity for this purpose has been debated.\n", + " definition of HP:0031179 (Nuchal rigidity)\n", + " \n", + " \n", + " Abnormal size of the palpebral fissures\n", + " definition of HP:0200007 (Abnormal size of the palpebral fissures)\n", + " \n", + " \n", + " An abnormal size of the palpebral fissures for example unusually long or short palpebral fissures.\n", + " definition of HP:0200007 (Abnormal size of the palpebral fissures)\n", + " \n", + " \n", + " #Abnormal size of the opening between the eyelids\n", + " definition of HP:0200007 (Abnormal size of the palpebral fissures)\n", + " \n", + " \n", + " Increased density of left ventricular trabeculae\n", + " definition of HP:0031194 (Increased density of left ventricular trabeculae)\n", + " \n", + " \n", + " An increased density (number and tightness) of the muscular columns which project from the inner surface of the left ventricles of the heart (cardiac trabeculae, trabeculae carneae).\n", + " definition of HP:0031194 (Increased density of left ventricular trabeculae)\n", + " \n", + " \n", + " Focal autonomic seizure with urge to urinate/defecate\n", + " definition of HP:0032765 (Focal autonomic seizure with urge to urinate/defecate)\n", + " \n", + " \n", + " A type of focal autonomic seizure characterized by an urge to unripe or defecate as the initial semiological feature.\n", + " definition of HP:0032765 (Focal autonomic seizure with urge to urinate/defecate)\n", + " \n", + " \n", + " Pericentral\n", + " definition of HP:0030649 (Pericentral)\n", + " \n", + " \n", + " Lacrimal duct aplasia\n", + " definition of HP:0007925 (Lacrimal duct aplasia)\n", + " \n", + " \n", + " A congenital defect resulting in absence of the lacrimal duct.\n", + " definition of HP:0007925 (Lacrimal duct aplasia)\n", + " \n", + " \n", + " #Absent tear duct\n", + " definition of HP:0007925 (Lacrimal duct aplasia)\n", + " \n", + " \n", + " Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes\n", + " definition of HP:0003329 (Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes)\n", + " \n", + " \n", + " Jejunoileal diverticula\n", + " definition of HP:0004799 (Jejunoileal diverticula)\n", + " \n", + " \n", + " Modic type III vertebral endplate changes\n", + " definition of HP:0030778 (Modic type III vertebral endplate changes)\n", + " \n", + " \n", + " An abnormal magnetic resonance tomography signal from a vertebral endplate with a low signal on T1 and T2-weighted sequences. Modic type III signals are thought to correspond to subchondral sclerosis seen on plain radiographs.\n", + " definition of HP:0030778 (Modic type III vertebral endplate changes)\n", + " \n", + " \n", + " #Modic type 3 vertebral endplate changes\n", + " definition of HP:0030778 (Modic type III vertebral endplate changes)\n", + " \n", + " \n", + " Type I diabetes mellitus\n", + " definition of HP:0100651 (Type I diabetes mellitus)\n", + " \n", + " \n", + " A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin.\n", + " definition of HP:0100651 (Type I diabetes mellitus)\n", + " \n", + " \n", + " #Diabetes mellitus Type I #Juvenile diabetes mellitus #Type 1 diabetes #Type I diabetes\n", + " definition of HP:0100651 (Type I diabetes mellitus)\n", + " \n", + " \n", + " Exostoses of the forearm bones\n", + " definition of HP:0003960 (Exostoses of the forearm bones)\n", + " \n", + " \n", + " Exercise-induced lactic acidemia\n", + " definition of HP:0004901 (Exercise-induced lactic acidemia)\n", + " \n", + " \n", + " A form of lactic acidemia that occurs following exercise or exertion.\n", + " definition of HP:0004901 (Exercise-induced lactic acidemia)\n", + " \n", + " \n", + " #Exercise-induced lactic acidosis\n", + " definition of HP:0004901 (Exercise-induced lactic acidemia)\n", + " \n", + " \n", + " Patchy sclerosis of the distal phalanx of the 3rd toe\n", + " definition of HP:0100467 (Patchy sclerosis of the distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " #Uneven increase in bone density in the outermost bone of the 3rd toe\n", + " definition of HP:0100467 (Patchy sclerosis of the distal phalanx of the 3rd toe)\n", + " \n", + " \n", + " Broad humeral epiphyseal plate\n", + " definition of HP:0003906 (Broad humeral epiphyseal plate)\n", + " \n", + " \n", + " Increased width of the humeral epiphyseal growth plate.\n", + " definition of HP:0003906 (Broad humeral epiphyseal plate)\n", + " \n", + " \n", + " #Wide humeral epiphyseal plate\n", + " definition of HP:0003906 (Broad humeral epiphyseal plate)\n", + " \n", + " \n", + " Focal impaired awareness hyperkinetic seizure\n", + " definition of HP:0032726 (Focal impaired awareness hyperkinetic seizure)\n", + " \n", + " \n", + " A focal hyperkinetic seizure in which awareness is partially or fully impaired at some point during the seizure.\n", + " definition of HP:0032726 (Focal impaired awareness hyperkinetic seizure)\n", + " \n", + " \n", + " Small scrotum\n", + " definition of HP:0000046 (Small scrotum)\n", + " \n", + " \n", + " Apparently small scrotum for age.\n", + " definition of HP:0000046 (Small scrotum)\n", + " \n", + " \n", + " #Hypoplastic scrotum #Scrotal hypoplasia #Smaller than typical growth of scrotum #Underdeveloped scrotum\n", + " definition of HP:0000046 (Small scrotum)\n", + " \n", + " \n", + " Multiple eyelid beaded papules\n", + " definition of HP:6000842 (Multiple eyelid beaded papules)\n", + " \n", + " \n", + " Multiple beaded papules along the eyelid margins and inner canthus.\n", + " definition of HP:6000842 (Multiple eyelid beaded papules)\n", + " \n", + " \n", + " #Moniliform blepharosis\n", + " definition of HP:6000842 (Multiple eyelid beaded papules)\n", + " \n", + " \n", + " Ovoid vertebral bodies\n", + " definition of HP:0003300 (Ovoid vertebral bodies)\n", + " \n", + " \n", + " When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval.\n", + " definition of HP:0003300 (Ovoid vertebral bodies)\n", + " \n", + " \n", + " #Oval vertebral bodies #Ovoid vertebrae #Ovoid-shaped vertebral bodies\n", + " definition of HP:0003300 (Ovoid vertebral bodies)\n", + " \n", + " \n", + " Duodenal gastric metaplasia\n", + " definition of HP:0033116 (Duodenal gastric metaplasia)\n", + " \n", + " \n", + " Foci of gastric-type mucus-secreting cells interspersed between duodenal enterocytes. These foci of gastric epithelial cells contain Periodic acid-Schiff (PAS)-positive neutral mucin and lack a brush border.\n", + " definition of HP:0033116 (Duodenal gastric metaplasia)\n", + " \n", + " \n", + " Reticular pigmentary degeneration\n", + " definition of HP:0007937 (Reticular pigmentary degeneration)\n", + " \n", + " \n", + " A type of retinal reticular pigmentation that forms a polygonal, netlike arrangement of hyperpigmented lines forming geometric patterns in the fundus.\n", + " definition of HP:0007937 (Reticular pigmentary degeneration)\n", + " \n", + " \n", + " #Fishnet retinal pigmentation #Honeycomb retinal degeneration\n", + " definition of HP:0007937 (Reticular pigmentary degeneration)\n", + " \n", + " \n", + " Abnormal circulating creatine kinase concentration\n", + " definition of HP:0040081 (Abnormal circulating creatine kinase concentration)\n", + " \n", + " \n", + " Any deviation from the normal circulating creatine kinase concentration.\n", + " definition of HP:0040081 (Abnormal circulating creatine kinase concentration)\n", + " \n", + " \n", + " #Abnormal circulating CK concentration #Abnormal circulating CPK concentration #Abnormal circulation phospho-CK concentration #Abnormal levels of creatine kinase in blood\n", + " definition of HP:0040081 (Abnormal circulating creatine kinase concentration)\n", + " \n", + " \n", + " Nephrotic range proteinuria\n", + " definition of HP:0012593 (Nephrotic range proteinuria)\n", + " \n", + " \n", + " Severely increased amount of excretion of protein in the urine, defined as 3.5 grams per day or more in adults and 40 mg per meter-squared body surface area per hour in children.\n", + " definition of HP:0012593 (Nephrotic range proteinuria)\n", + " \n", + " \n", + " Bloodstream antibacterial antibody positivity\n", + " definition of HP:0430061 (Bloodstream antibacterial antibody positivity)\n", + " \n", + " \n", + " The presence of antibodies in the blood circulation that react against a bacterium.\n", + " definition of HP:0430061 (Bloodstream antibacterial antibody positivity)\n", + " \n", + " \n", + " Abnormal cardiovascular system physiology\n", + " definition of HP:0011025 (Abnormal cardiovascular system physiology)\n", + " \n", + " \n", + " Abnormal functionality of the cardiovascular system.\n", + " definition of HP:0011025 (Abnormal cardiovascular system physiology)\n", + " \n", + " \n", + " #Abnormality of cardiovascular system physiology\n", + " definition of HP:0011025 (Abnormal cardiovascular system physiology)\n", + " \n", + " \n", + " Decreased circulating dehydroepiandrosterone-sulfate concentration\n", + " definition of HP:0031215 (Decreased circulating dehydroepiandrosterone-sulfate concentration)\n", + " \n", + " \n", + " A reduced concentration of dehydroepiandrosterone-sulfate in the blood.\n", + " definition of HP:0031215 (Decreased circulating dehydroepiandrosterone-sulfate concentration)\n", + " \n", + " \n", + " #Decreased circulating dehydroepiandrosterone-sulfate level\n", + " definition of HP:0031215 (Decreased circulating dehydroepiandrosterone-sulfate concentration)\n", + " \n", + " \n", + " Abnormal liver parenchyma morphology\n", + " definition of HP:0030146 (Abnormal liver parenchyma morphology)\n", + " \n", + " \n", + " A structural anomaly of the liver located predominantly in the hepatocytes as opposed to stromal cells.\n", + " definition of HP:0030146 (Abnormal liver parenchyma morphology)\n", + " \n", + " \n", + " Biceps hyporeflexia\n", + " definition of HP:0033201 (Biceps hyporeflexia)\n", + " \n", + " \n", + " Reduced intensity of the biceps tendon reflex.\n", + " definition of HP:0033201 (Biceps hyporeflexia)\n", + " \n", + " \n", + " #Hyporeflexia of biceps\n", + " definition of HP:0033201 (Biceps hyporeflexia)\n", + " \n", + " \n", + " Bronchial atresia\n", + " definition of HP:0030715 (Bronchial atresia)\n", + " \n", + " \n", + " A developmental anomaly characterized by focal obliteration of the proximal segment of a bronchus. The bronchial pattern is entirely normal distal to the site of stenosis.\n", + " definition of HP:0030715 (Bronchial atresia)\n", + " \n", + " \n", + " #Congenital bronchial atresia\n", + " definition of HP:0030715 (Bronchial atresia)\n", + " \n", + " \n", + " Leukocyte inclusion bodies\n", + " definition of HP:0040235 (Leukocyte inclusion bodies)\n", + " \n", + " \n", + " The presence of intraceullar inclusion bodies (aggregates of stainable substances, usually proteins) in leukocytes.\n", + " definition of HP:0040235 (Leukocyte inclusion bodies)\n", + " \n", + " \n", + " #Dohle-like leukocyte inclusion bodies #Inclusion bodies in leukocytes\n", + " definition of HP:0040235 (Leukocyte inclusion bodies)\n", + " \n", + " \n", + " Elevated urine glucose tetrasaccharide level\n", + " definition of HP:6001008 (Elevated urine glucose tetrasaccharide level)\n", + " \n", + " \n", + " The amount of glucose tetrasaccharide in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6001008 (Elevated urine glucose tetrasaccharide level)\n", + " \n", + " \n", + " Perianal erythema\n", + " definition of HP:0033195 (Perianal erythema)\n", + " \n", + " \n", + " Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the anus.\n", + " definition of HP:0033195 (Perianal erythema)\n", + " \n", + " \n", + " Necrotizing myopathy\n", + " definition of HP:0008978 (Necrotizing myopathy)\n", + " \n", + " \n", + " White scaling skin\n", + " definition of HP:0040190 (White scaling skin)\n", + " \n", + " \n", + " #White scaling skin #White scaly skin\n", + " definition of HP:0040190 (White scaling skin)\n", + " \n", + " \n", + " Abdominal obesity\n", + " definition of HP:0012743 (Abdominal obesity)\n", + " \n", + " \n", + " Excessive fat around the stomach and abdomen.\n", + " definition of HP:0012743 (Abdominal obesity)\n", + " \n", + " \n", + " #Abdominal obesity #Central obesity\n", + " definition of HP:0012743 (Abdominal obesity)\n", + " \n", + " \n", + " Reduced hepatic fructose-1,6-phosphate aldolase activity\n", + " definition of HP:0034830 (Reduced hepatic fructose-1,6-phosphate aldolase activity)\n", + " \n", + " \n", + " Concentration or activity of fructose 1,6-bisphosphate aldolase in liver tissue below the lower limit of normal.\n", + " definition of HP:0034830 (Reduced hepatic fructose-1,6-phosphate aldolase activity)\n", + " \n", + " \n", + " Adrenocorticotropin receptor defect\n", + " definition of HP:0008259 (Adrenocorticotropin receptor defect)\n", + " \n", + " \n", + " Adrenal insufficiency secondary to a defect in the ACTH receptor.\n", + " definition of HP:0008259 (Adrenocorticotropin receptor defect)\n", + " \n", + " \n", + " #ACTH receptor defect #ACTHR defect #Adrenocorticotropic hormone-resistant adrenal insufficiency\n", + " definition of HP:0008259 (Adrenocorticotropin receptor defect)\n", + " \n", + " \n", + " Inner retinal layer loss on macular OCT\n", + " definition of HP:0030620 (Inner retinal layer loss on macular OCT)\n", + " \n", + " \n", + " High maternal circulating chorionic gonadotropin concentration\n", + " definition of HP:0011433 (High maternal circulating chorionic gonadotropin concentration)\n", + " \n", + " \n", + " An abnormally high concentration of maternal serum human chorionic gonadotropin as compared to normal values for gestational-age.\n", + " definition of HP:0011433 (High maternal circulating chorionic gonadotropin concentration)\n", + " \n", + " \n", + " #High maternal serum chorionic gonadotropin #High maternal serum hCG\n", + " definition of HP:0011433 (High maternal circulating chorionic gonadotropin concentration)\n", + " \n", + " \n", + " Premature epimetaphyseal fusion in fibula\n", + " definition of HP:0012565 (Premature epimetaphyseal fusion in fibula)\n", + " \n", + " \n", + " Stop of growth at the epiphyseal plate the hyaline cartilage plate in the metaphysis at one or more long bones in the fibula, at an earlier than normal age, resulting in growth arrest and shortening of the involved bone.\n", + " definition of HP:0012565 (Premature epimetaphyseal fusion in fibula)\n", + " \n", + " \n", + " Abnormal enteric nervous system morphology\n", + " definition of HP:0025028 (Abnormal enteric nervous system morphology)\n", + " \n", + " \n", + " A structural anomaly of nerves of the enteric nervous system.\n", + " definition of HP:0025028 (Abnormal enteric nervous system morphology)\n", + " \n", + " \n", + " #Abnormality of enteric nervous system morphology\n", + " definition of HP:0025028 (Abnormal enteric nervous system morphology)\n", + " \n", + " \n", + " Lip tremor\n", + " definition of HP:0032006 (Lip tremor)\n", + " \n", + " \n", + " An unintentional, oscillating to-and-fro muscle movement affecting the lip.\n", + " definition of HP:0032006 (Lip tremor)\n", + " \n", + " \n", + " Anti-prothrombin antibody positivity\n", + " definition of HP:6000491 (Anti-prothrombin antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the serum that react against prothrombin.\n", + " definition of HP:6000491 (Anti-prothrombin antibody positivity)\n", + " \n", + " \n", + " #Anti-FII antibody positivity\n", + " definition of HP:6000491 (Anti-prothrombin antibody positivity)\n", + " \n", + " \n", + " Fractured manual digit\n", + " definition of HP:0041163 (Fractured manual digit)\n", + " \n", + " \n", + " A partial or complete breakage of the manual digit.\n", + " definition of HP:0041163 (Fractured manual digit)\n", + " \n", + " \n", + " #bone manual digit\n", + " definition of HP:0041163 (Fractured manual digit)\n", + " \n", + " \n", + " Anti-transglutaminase 6 antibody\n", + " definition of HP:4000026 (Anti-transglutaminase 6 antibody)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against transglutaminase 6.\n", + " definition of HP:4000026 (Anti-transglutaminase 6 antibody)\n", + " \n", + " \n", + " Best corrected visual acuity 0.8 LogMAR\n", + " definition of HP:0030561 (Best corrected visual acuity 0.8 LogMAR)\n", + " \n", + " \n", + " Antiphospholipid antibody positivity\n", + " definition of HP:0003613 (Antiphospholipid antibody positivity)\n", + " \n", + " \n", + " The presence of circulating autoantibodies to phospholipids.\n", + " definition of HP:0003613 (Antiphospholipid antibody positivity)\n", + " \n", + " \n", + " #Antiphospholipid antibodies #Antiphospholipid antibody #Phospholipid antibody positivity\n", + " definition of HP:0003613 (Antiphospholipid antibody positivity)\n", + " \n", + " \n", + " Fractured ulna\n", + " definition of HP:0003987 (Fractured ulna)\n", + " \n", + " \n", + " Abnormal sweat electrolytes\n", + " definition of HP:0040128 (Abnormal sweat electrolytes)\n", + " \n", + " \n", + " Anterior chamber cells grade 0\n", + " definition of HP:0025563 (Anterior chamber cells grade 0)\n", + " \n", + " \n", + " Anterior chamber cells with less than one cell in a 1 mm by 1 mm slit beam field, employing adequate light intensity and magnification on a slit lamp.\n", + " definition of HP:0025563 (Anterior chamber cells grade 0)\n", + " \n", + " \n", + " Renal tubular polyoma virus inclusions\n", + " definition of HP:0032955 (Renal tubular polyoma virus inclusions)\n", + " \n", + " \n", + " Renal tubular nuclear inclusions have a ground-glass appearance with irregular central clearing, or a coarse, vesicular appearance. Distal tubules are involved more often than proximal tubules. There may be only medullary involvement in early stages, and parietal epithelial cells may be involved in later stages of the infection. Infected epithelial cell nuclei stain with antibody to the large T antigen of the SV40 virus, which serves as a surrogate marker of human polyomavirus infection.\n", + " definition of HP:0032955 (Renal tubular polyoma virus inclusions)\n", + " \n", + " \n", + " Anthracycline exposure\n", + " definition of HP:6000019 (Anthracycline exposure)\n", + " \n", + " \n", + " History of treatment with an anthracycline chemotherapy agent.\n", + " definition of HP:6000019 (Anthracycline exposure)\n", + " \n", + " \n", + " Decreased red blood cell count\n", + " definition of HP:0020060 (Decreased red blood cell count)\n", + " \n", + " \n", + " An abnormal reduction below the normal number of red blood cells per volume in the circulation.\n", + " definition of HP:0020060 (Decreased red blood cell count)\n", + " \n", + " \n", + " #Decreased RBC count\n", + " definition of HP:0020060 (Decreased red blood cell count)\n", + " \n", + " \n", + " Decreased CSF albumin concentration\n", + " definition of HP:0025458 (Decreased CSF albumin concentration)\n", + " \n", + " \n", + " CSF albumin level is below the lower limit of normal.\n", + " definition of HP:0025458 (Decreased CSF albumin concentration)\n", + " \n", + " \n", + " #Low CSF albumin\n", + " definition of HP:0025458 (Decreased CSF albumin concentration)\n", + " \n", + " \n", + " Avoidance of emotional intimacy\n", + " definition of HP:5200111 (Avoidance of emotional intimacy)\n", + " \n", + " \n", + " An atypically high tendency to avoid interpersonal exchanges characterizing by sharing of personal feelings, expressions of understanding, affirmation, and demonstrations of caring.\n", + " definition of HP:5200111 (Avoidance of emotional intimacy)\n", + " \n", + " \n", + " Macroorchidism, postpubertal\n", + " definition of HP:0002050 (Macroorchidism, postpubertal)\n", + " \n", + " \n", + " Anti-asparaginyl-tRNA synthetase antibody positivity\n", + " definition of HP:0034151 (Anti-asparaginyl-tRNA synthetase antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against asparaginyl-tRNA synthetase.\n", + " definition of HP:0034151 (Anti-asparaginyl-tRNA synthetase antibody positivity)\n", + " \n", + " \n", + " #Anti-KS antibody positivity\n", + " definition of HP:0034151 (Anti-asparaginyl-tRNA synthetase antibody positivity)\n", + " \n", + " \n", + " Enhanced ristocetin cofactor assay activity\n", + " definition of HP:0030136 (Enhanced ristocetin cofactor assay activity)\n", + " \n", + " \n", + " Abnormal response to ristocetin as manifested by increased aggregation of platelets upon addition of low-dose ristocetin to platelet-rich plasma.\n", + " definition of HP:0030136 (Enhanced ristocetin cofactor assay activity)\n", + " \n", + " \n", + " Personality changes\n", + " definition of HP:0000751 (Personality changes)\n", + " \n", + " \n", + " An abnormal shift in patterns of thinking, acting, or feeling.\n", + " definition of HP:0000751 (Personality changes)\n", + " \n", + " \n", + " #Personality change #Personality changes\n", + " definition of HP:0000751 (Personality changes)\n", + " \n", + " \n", + " Psoriasiform lesion\n", + " definition of HP:0025526 (Psoriasiform lesion)\n", + " \n", + " \n", + " A skin lesions that resembles the lesions observed in psoriasis, viz., an erythematous plaque covered by fine silvery scales. Psoriasiform lesions can be observed in psoriasis as well as in other conditions including allergic contact dermatitis, seborrhoeic dermatitis, Atopic dermatitis, pityriasis rubra, and lichen simplex chronicus.\n", + " definition of HP:0025526 (Psoriasiform lesion)\n", + " \n", + " \n", + " #Psoriatic-like lesion\n", + " definition of HP:0025526 (Psoriasiform lesion)\n", + " \n", + " \n", + " Cortical diaphyseal thickening of the upper limbs\n", + " definition of HP:0003859 (Cortical diaphyseal thickening of the upper limbs)\n", + " \n", + " \n", + " Sciatica\n", + " definition of HP:0011868 (Sciatica)\n", + " \n", + " \n", + " Pain in the lower back and hip radiating in the distribution of the sciatic nerve.\n", + " definition of HP:0011868 (Sciatica)\n", + " \n", + " \n", + " Caesarian section\n", + " definition of HP:0011410 (Caesarian section)\n", + " \n", + " \n", + " Delivery of a fetus through surgical incisions made through the abdominal wall (laparotomy) and the uterine wall (hysterotomy).\n", + " definition of HP:0011410 (Caesarian section)\n", + " \n", + " \n", + " #Caesarian section\n", + " definition of HP:0011410 (Caesarian section)\n", + " \n", + " \n", + " Osteoporotic forearm bones\n", + " definition of HP:0003964 (Osteoporotic forearm bones)\n", + " \n", + " \n", + " Polyotia\n", + " definition of HP:0100687 (Polyotia)\n", + " \n", + " \n", + " The presence of an extra auricle on one or both sides of the head.\n", + " definition of HP:0100687 (Polyotia)\n", + " \n", + " \n", + " Alveolar process hypoplasia\n", + " definition of HP:0006329 (Alveolar process hypoplasia)\n", + " \n", + " \n", + " Underdevelopment of the alveolar process (also known as alveolar bone).\n", + " definition of HP:0006329 (Alveolar process hypoplasia)\n", + " \n", + " \n", + " #Decreased size of alveolar process of jaw #Decreased size of alveolar ridge #Hypoplasia of alveolar ridge #Hypoplastic alveolar bone #Small alveolar process of jaw #Small alveolar ridge #Underdevelopment of alveolar process of jaw #Underdevelopment of alveolar ridge\n", + " definition of HP:0006329 (Alveolar process hypoplasia)\n", + " \n", + " \n", + " Centrilobular\n", + " definition of HP:0033816 (Centrilobular)\n", + " \n", + " \n", + " Located in the center of the secondary pulmonary lobules, which are the functional units of the lungs.\n", + " definition of HP:0033816 (Centrilobular)\n", + " \n", + " \n", + " Anti-RuvBL1/2 antibody positivity\n", + " definition of HP:0034090 (Anti-RuvBL1/2 antibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies (immunoglobulins) in the blood circulation that react against RuvBL1/2.\n", + " definition of HP:0034090 (Anti-RuvBL1/2 antibody positivity)\n", + " \n", + " \n", + " Progressive alveolar ridge hypertrophy\n", + " definition of HP:0009092 (Progressive alveolar ridge hypertrophy)\n", + " \n", + " \n", + " #Increasing size of gum ridge #Progressive hypertrophy of alveolar process of jaw\n", + " definition of HP:0009092 (Progressive alveolar ridge hypertrophy)\n", + " \n", + " \n", + " Aplasia of the phalanges of the 4th toe\n", + " definition of HP:0100363 (Aplasia of the phalanges of the 4th toe)\n", + " \n", + " \n", + " #Absent bones of the 4th toe\n", + " definition of HP:0100363 (Aplasia of the phalanges of the 4th toe)\n", + " \n", + " \n", + " Ectopic accessory finger-like appendage\n", + " definition of HP:0010441 (Ectopic accessory finger-like appendage)\n", + " \n", + " \n", + " In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the ulnar side of the hand, next to the little finger), preaxial (on the radial side of the hand, next to the thumb) or mesoaxial (somewhere central, between thumb and little finger), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200).\n", + " definition of HP:0010441 (Ectopic accessory finger-like appendage)\n", + " \n", + " \n", + " Increased urinary excretion of galactosyl hydroxylysine\n", + " definition of HP:0031991 (Increased urinary excretion of galactosyl hydroxylysine)\n", + " \n", + " \n", + " An increased concentration of beta-1-galactosyl-O-hydroxylysine (Gal-Hyl) in the urine. This is a biochemical marker of bone resorption.\n", + " definition of HP:0031991 (Increased urinary excretion of galactosyl hydroxylysine)\n", + " \n", + " \n", + " Pseudoepiphysis of the 3rd metacarpal\n", + " definition of HP:0010223 (Pseudoepiphysis of the 3rd metacarpal)\n", + " \n", + " \n", + " The normal epiphysis of the third metacarpal is localized at the distal end of the metacarpal bone. This term applies if an accessory epiphysis, located at the proximal end of the metacarpal bone, is present.\n", + " definition of HP:0010223 (Pseudoepiphysis of the 3rd metacarpal)\n", + " \n", + " \n", + " Synostosis of the proximal phalanx of the hallux with the 1st metatarsal\n", + " definition of HP:0100488 (Synostosis of the proximal phalanx of the hallux with the 1st metatarsal)\n", + " \n", + " \n", + " #Fusion of the innermost big toe bone with the 1st long bone of foot\n", + " definition of HP:0100488 (Synostosis of the proximal phalanx of the hallux with the 1st metatarsal)\n", + " \n", + " \n", + " Deformed sella turcica\n", + " definition of HP:0002681 (Deformed sella turcica)\n", + " \n", + " \n", + " #Abnormal shape of hypophysial fossa #Abnormal shape of pituitary fossa #Abnormal shape of sella turcica #Deformity of hypophysial fossa #Deformity of pituitary fossa #Malformation of hypophysial fossa #Malformation of pituitary fossa #Malformation of sella turcica\n", + " definition of HP:0002681 (Deformed sella turcica)\n", + " \n", + " \n", + " Reduced circulating fibroblast growth factor 23 concentration\n", + " definition of HP:6000488 (Reduced circulating fibroblast growth factor 23 concentration)\n", + " \n", + " \n", + " The concentration of fibroblast growth factor 23 in the blood circulation is below the lower limit of normal.\n", + " definition of HP:6000488 (Reduced circulating fibroblast growth factor 23 concentration)\n", + " \n", + " \n", + " #Fibroblast growth factor 23 hormone low in blood\n", + " definition of HP:6000488 (Reduced circulating fibroblast growth factor 23 concentration)\n", + " \n", + " \n", + " Humeral pseudarthrosis\n", + " definition of HP:0003879 (Humeral pseudarthrosis)\n", + " \n", + " \n", + " #False joint (long bone in upper arm)\n", + " definition of HP:0003879 (Humeral pseudarthrosis)\n", + " \n", + " \n", + " Exercise-induced muscle cramps\n", + " definition of HP:0003710 (Exercise-induced muscle cramps)\n", + " \n", + " \n", + " Sudden and involuntary contractions of one or more muscles brought on by physical exertion.\n", + " definition of HP:0003710 (Exercise-induced muscle cramps)\n", + " \n", + " \n", + " #Exercise-induced muscle cramping #Exercise-induced muscle cramps #Muscle cramps following exercise #Muscle cramps on exercise #Muscle cramps on exertion #Muscle cramps with exertion\n", + " definition of HP:0003710 (Exercise-induced muscle cramps)\n", + " \n", + " \n", + " Risky behavior\n", + " definition of HP:0031472 (Risky behavior)\n", + " \n", + " \n", + " Engaging in dangerous, risky, and potentially self-damaging activities, without considering the consequences, and include physical, health-related, and financial behaviors. It involves a disregard for one's limitations and a denial of personal danger. While consequences may not occur, the risks are high (e.g. driving too fast, unprotected casual sex, or risky investments).\n", + " definition of HP:0031472 (Risky behavior)\n", + " \n", + " \n", + " Focal emotional seizure with fear/anxiety/panic\n", + " definition of HP:0032739 (Focal emotional seizure with fear/anxiety/panic)\n", + " \n", + " \n", + " Focal emotional seizure with anxiety is characterized by the presence of anxiety, fear or panic as an expressed or observed emotion, at the outset of the seizure. Because of the unpleasant nature of these seizures, patients may also have anticipatory anxiety about having seizures.\n", + " definition of HP:0032739 (Focal emotional seizure with fear/anxiety/panic)\n", + " \n", + " \n", + " Abnormal ear morphology\n", + " definition of HP:0031703 (Abnormal ear morphology)\n", + " \n", + " \n", + " Any structural anomaly of the ear.\n", + " definition of HP:0031703 (Abnormal ear morphology)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the clavicles\n", + " definition of HP:0006710 (Aplasia/Hypoplasia of the clavicles)\n", + " \n", + " \n", + " Absence or underdevelopment of the clavicles (collar bones).\n", + " definition of HP:0006710 (Aplasia/Hypoplasia of the clavicles)\n", + " \n", + " \n", + " #Absent/small collarbone #Absent/underdeveloped collarbone\n", + " definition of HP:0006710 (Aplasia/Hypoplasia of the clavicles)\n", + " \n", + " \n", + " Microretrognathia\n", + " definition of HP:0000308 (Microretrognathia)\n", + " \n", + " \n", + " A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly.\n", + " definition of HP:0000308 (Microretrognathia)\n", + " \n", + " \n", + " #Retromicrognathia #Small retruded chin\n", + " definition of HP:0000308 (Microretrognathia)\n", + " \n", + " \n", + " Cortical thickening of long bone diaphyses\n", + " definition of HP:0005791 (Cortical thickening of long bone diaphyses)\n", + " \n", + " \n", + " Abnormal thickening of the cortex of the diaphyseal region of long bones.\n", + " definition of HP:0005791 (Cortical thickening of long bone diaphyses)\n", + " \n", + " \n", + " Pelvic organ prolapse\n", + " definition of HP:0031607 (Pelvic organ prolapse)\n", + " \n", + " \n", + " Weakness in the supporting structures of the pelvic floor allowing the pelvic viscera to descend or one or more of the pelvic organs drop from their normal position.\n", + " definition of HP:0031607 (Pelvic organ prolapse)\n", + " \n", + " \n", + " Anomalous origin of the left common carotid artery from the brachiocephalic artery\n", + " definition of HP:0031635 (Anomalous origin of the left common carotid artery from the brachiocephalic artery)\n", + " \n", + " \n", + " The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the brachiocephalic artery.\n", + " definition of HP:0031635 (Anomalous origin of the left common carotid artery from the brachiocephalic artery)\n", + " \n", + " \n", + " #Anomalous origin of the left common carotid artery from the brachiocephalic trunk\n", + " definition of HP:0031635 (Anomalous origin of the left common carotid artery from the brachiocephalic artery)\n", + " \n", + " \n", + " Urolithiasis\n", + " definition of HP:0034368 (Urolithiasis)\n", + " \n", + " \n", + " Renal stones are formed within the kidneys, and this is called nephrolithiasis. Urolithiasis is a condition that occurs when these stones exit the renal pelvis and move into the remainder of the urinary collecting system, which includes the ureters, bladder, and urethra.\n", + " definition of HP:0034368 (Urolithiasis)\n", + " \n", + " \n", + " Absent ossification of cervical vertebral bodies\n", + " definition of HP:0005885 (Absent ossification of cervical vertebral bodies)\n", + " \n", + " \n", + " A lack of bone mineralization of one or more body of cervical vertebra.\n", + " definition of HP:0005885 (Absent ossification of cervical vertebral bodies)\n", + " \n", + " \n", + " Anterior chamber flare\n", + " definition of HP:0031616 (Anterior chamber flare)\n", + " \n", + " \n", + " An abnormal appearance of the beam of light traveling through the anterior chamber of the eye in a slit lamp examination. The flare is produced by an increased concentration of proteins in the aqueous humor in the anterior chamber.\n", + " definition of HP:0031616 (Anterior chamber flare)\n", + " \n", + " \n", + " Polydactyly affecting the 4th finger\n", + " definition of HP:0009971 (Polydactyly affecting the 4th finger)\n", + " \n", + " \n", + " #Extra ring finger\n", + " definition of HP:0009971 (Polydactyly affecting the 4th finger)\n", + " \n", + " \n", + " Intracellular accumulation of Dol-PP-GlcNAc2Man5\n", + " definition of HP:0032576 (Intracellular accumulation of Dol-PP-GlcNAc2Man5)\n", + " \n", + " \n", + " Intracellular accumulation of the lipid-linked oligosaccharide intermediate Man5GlcNAc2-PP-dolichol.\n", + " definition of HP:0032576 (Intracellular accumulation of Dol-PP-GlcNAc2Man5)\n", + " \n", + " \n", + " Left ventricular hypertrophy\n", + " definition of HP:0001712 (Left ventricular hypertrophy)\n", + " \n", + " \n", + " Enlargement or increased size of the heart left ventricle.\n", + " definition of HP:0001712 (Left ventricular hypertrophy)\n", + " \n", + " \n", + " #Heart left ventricle hypertrophy #Left ventricular wall hypertrophy\n", + " definition of HP:0001712 (Left ventricular hypertrophy)\n", + " \n", + " \n", + " Tricuspid atresia\n", + " definition of HP:0011662 (Tricuspid atresia)\n", + " \n", + " \n", + " Failure to develop of the tricuspid valve and thus lack of the normal connection between the right atrium and the right ventricle.\n", + " definition of HP:0011662 (Tricuspid atresia)\n", + " \n", + " \n", + " #Tricuspid valve atresia\n", + " definition of HP:0011662 (Tricuspid atresia)\n", + " \n", + " \n", + " Communicating hydrocephalus\n", + " definition of HP:0001334 (Communicating hydrocephalus)\n", + " \n", + " \n", + " A form of hydrocephalus in which there is no visible obstruction to the flow of the cerebrospinal fluid between the ventricles and subarachnoid space.\n", + " definition of HP:0001334 (Communicating hydrocephalus)\n", + " \n", + " \n", + " Abnormal glomerular endothelial cell morphology\n", + " definition of HP:0033272 (Abnormal glomerular endothelial cell morphology)\n", + " \n", + " \n", + " An abnormal structure of the glomerular endothelial cells, which are highly specialized cells with fenestrae and a charged luminal glycocalyx layer that contribute to the filtration barrier.\n", + " definition of HP:0033272 (Abnormal glomerular endothelial cell morphology)\n", + " \n", + " \n", + " Decreased circulating thyroglobulin concentration\n", + " definition of HP:6000244 (Decreased circulating thyroglobulin concentration)\n", + " \n", + " \n", + " The concentration of thyroglobulin in the blood circulation is below the lower limit of normal.\n", + " definition of HP:6000244 (Decreased circulating thyroglobulin concentration)\n", + " \n", + " \n", + " Focal impaired awareness sensory seizure with auditory features\n", + " definition of HP:0032880 (Focal impaired awareness sensory seizure with auditory features)\n", + " \n", + " \n", + " A focal sensory seizure with auditory features in which awareness is partially or fully impaired at some point during the seizure.\n", + " definition of HP:0032880 (Focal impaired awareness sensory seizure with auditory features)\n", + " \n", + " \n", + " Contracture of the proximal interphalangeal joint of the 4th toe\n", + " definition of HP:0100350 (Contracture of the proximal interphalangeal joint of the 4th toe)\n", + " \n", + " \n", + " The proximal interphalangeal joint of the 4th toe cannot be straightened actively or passively.\n", + " definition of HP:0100350 (Contracture of the proximal interphalangeal joint of the 4th toe)\n", + " \n", + " \n", + " #Camptodactyly of the 4th toe #Camptodactyly of the fourth toe #Contracture of the innermost hinge joint of the 4th toe\n", + " definition of HP:0100350 (Contracture of the proximal interphalangeal joint of the 4th toe)\n", + " \n", + " \n", + " Abnormal mouth floor morphology\n", + " definition of HP:0410012 (Abnormal mouth floor morphology)\n", + " \n", + " \n", + " Any abnormality of the mouth floor.\n", + " definition of HP:0410012 (Abnormal mouth floor morphology)\n", + " \n", + " \n", + " #Abnormality of the floor of mouth #Abnormality of the mouth floor\n", + " definition of HP:0410012 (Abnormal mouth floor morphology)\n", + " \n", + " \n", + " Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis\n", + " definition of HP:0011654 (Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis)\n", + " \n", + " \n", + " A double outlet right ventricle with a non-committed ventricular septal defect (VSD), which is a VSD that is anatomically related to, or close to, neither great vessel, being separated from both by considerable muscle, but there is not accompanying pulmonary stenosis; the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches.\n", + " definition of HP:0011654 (Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis)\n", + " \n", + " \n", + " #DORV with non-committed VSD without pulmonary stenosis #Double outlet right ventricle, noncommitted ventricular septal defect\n", + " definition of HP:0011654 (Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis)\n", + " \n", + " \n", + " Early onset absence seizures\n", + " definition of HP:0011152 (Early onset absence seizures)\n", + " \n", + " \n", + " Typical absence seizures starting before the age of 4 years.\n", + " definition of HP:0011152 (Early onset absence seizures)\n", + " \n", + " \n", + " #Early onset petit mal seizures\n", + " definition of HP:0011152 (Early onset absence seizures)\n", + " \n", + " \n", + " Fusiform descending thoracic aortic aneurysm\n", + " definition of HP:0012728 (Fusiform descending thoracic aortic aneurysm)\n", + " \n", + " \n", + " A concentric abnormal localized widening (dilatation) of the descending thoracic aorta that involves the full circumference of the vessel wall\n", + " definition of HP:0012728 (Fusiform descending thoracic aortic aneurysm)\n", + " \n", + " \n", + " Delayed ossification of carpal bones\n", + " definition of HP:0001216 (Delayed ossification of carpal bones)\n", + " \n", + " \n", + " Ossification of carpal bones occurs later than age-adjusted norms.\n", + " definition of HP:0001216 (Delayed ossification of carpal bones)\n", + " \n", + " \n", + " #Carpal delayed ossification #Delayed carpal bone age #Delayed carpal ossification #Delayed maturation of carpal bones\n", + " definition of HP:0001216 (Delayed ossification of carpal bones)\n", + " \n", + " \n", + " Nasolacrimal sac obstruction\n", + " definition of HP:0500034 (Nasolacrimal sac obstruction)\n", + " \n", + " \n", + " Blockage of the nasolacrimal sac.\n", + " definition of HP:0500034 (Nasolacrimal sac obstruction)\n", + " \n", + " \n", + " Calcinosis\n", + " definition of HP:0003761 (Calcinosis)\n", + " \n", + " \n", + " Formation of calcium deposits in any soft tissue.\n", + " definition of HP:0003761 (Calcinosis)\n", + " \n", + " \n", + " #Calcium buildup in soft tissues of body\n", + " definition of HP:0003761 (Calcinosis)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the Epiglottis\n", + " definition of HP:0010565 (Aplasia/Hypoplasia of the Epiglottis)\n", + " \n", + " \n", + " This term applies if the Epiglottis is absent or hypoplastic.\n", + " definition of HP:0010565 (Aplasia/Hypoplasia of the Epiglottis)\n", + " \n", + " \n", + " Sparse body hair\n", + " definition of HP:0002231 (Sparse body hair)\n", + " \n", + " \n", + " Sparseness of the body hair.\n", + " definition of HP:0002231 (Sparse body hair)\n", + " \n", + " \n", + " #Limited body hair #Little body hair #Sparse body hair #Sparse to absent body hair\n", + " definition of HP:0002231 (Sparse body hair)\n", + " \n", + " \n", + " Positive CSF mycobacterium tuberculosis nucleic acid test\n", + " definition of HP:6000542 (Positive CSF mycobacterium tuberculosis nucleic acid test)\n", + " \n", + " \n", + " Detection of Mycobacterium tuberculosis nucleic acid in the cerebrospinal fluid (CSF) by a method such as polymerase chain reaction.\n", + " definition of HP:6000542 (Positive CSF mycobacterium tuberculosis nucleic acid test)\n", + " \n", + " \n", + " Fractured manual digit 1 phalanx\n", + " definition of HP:0041239 (Fractured manual digit 1 phalanx)\n", + " \n", + " \n", + " A partial or complete breakage of the manual digit 1 phalanx.\n", + " definition of HP:0041239 (Fractured manual digit 1 phalanx)\n", + " \n", + " \n", + " #bone manual digit 1 phalanx\n", + " definition of HP:0041239 (Fractured manual digit 1 phalanx)\n", + " \n", + " \n", + " Extracranial internal carotid artery dissection\n", + " definition of HP:0004945 (Extracranial internal carotid artery dissection)\n", + " \n", + " \n", + " A separation (dissection) of the layers of the extracranial portion of the internal carotid artery wall.\n", + " definition of HP:0004945 (Extracranial internal carotid artery dissection)\n", + " \n", + " \n", + " Abnormal fucosylation of O-linked protein glycosylation\n", + " definition of HP:0012359 (Abnormal fucosylation of O-linked protein glycosylation)\n", + " \n", + " \n", + " An anomaly of the addition of fucose sugar units to O-linked glycans.\n", + " definition of HP:0012359 (Abnormal fucosylation of O-linked protein glycosylation)\n", + " \n", + " \n", + " Monoclonal light chain cardiac amyloidosis\n", + " definition of HP:0031326 (Monoclonal light chain cardiac amyloidosis)\n", + " \n", + " \n", + " A type of cardiac amyloidosis related to deposition of an immunoglobulin light chain. The current gold standard of amyloid typing is to determine the precursor protein using laser microdissection mass spectrometry.\n", + " definition of HP:0031326 (Monoclonal light chain cardiac amyloidosis)\n", + " \n", + " \n", + " 3-4 finger osseus syndactyly\n", + " definition of HP:0006097 (3-4 finger osseus syndactyly)\n", + " \n", + " \n", + " Fusion of the third (middle) and fourth (ring) finger, involving soft parts and including fusion of individual finger bones.\n", + " definition of HP:0006097 (3-4 finger osseus syndactyly)\n", + " \n", + " \n", + " #Partial or complete syndactyly 3rd-4th fingers #Webbed 3rd-4th finger #Webbed 3rd-4th fingers\n", + " definition of HP:0006097 (3-4 finger osseus syndactyly)\n", + " \n", + " \n", + " Aortic elastic fiber fragmentation\n", + " definition of HP:0032083 (Aortic elastic fiber fragmentation)\n", + " \n", + " \n", + " Loss and/or fragmentation of elastic fibers of the media of the aorta creating increasingly extended translamellar spaces, with absence of elastic fibers, and increased gaps in elastic fiber lamellae as identified on a stain for elastic fibers.\n", + " definition of HP:0032083 (Aortic elastic fiber fragmentation)\n", + " \n", + " \n", + " #Aortic elastic fibre fragmentation\n", + " definition of HP:0032083 (Aortic elastic fiber fragmentation)\n", + " \n", + " \n", + " Flat occiput\n", + " definition of HP:0005469 (Flat occiput)\n", + " \n", + " \n", + " Reduced convexity of the occiput (posterior part of skull).\n", + " definition of HP:0005469 (Flat occiput)\n", + " \n", + " \n", + " #Flat posterior cranium #Posterior flattening of the skull\n", + " definition of HP:0005469 (Flat occiput)\n", + " \n", + " \n", + " Medially fused radial epiphyseal plates\n", + " definition of HP:0004013 (Medially fused radial epiphyseal plates)\n", + " \n", + " \n", + " Numerous congenital melanocytic nevi\n", + " definition of HP:0005603 (Numerous congenital melanocytic nevi)\n", + " \n", + " \n", + " Thoracic ectopia cordis\n", + " definition of HP:0011585 (Thoracic ectopia cordis)\n", + " \n", + " \n", + " Congenital malformation of the thoracic wall with partial or total displacement of the heart outside the thoracic cavity. This feature is associated with sternal cleft or absence of the sternum.\n", + " definition of HP:0011585 (Thoracic ectopia cordis)\n", + " \n", + " \n", + " Increased circulating UDP glucose-4-epimerase concentration\n", + " definition of HP:0410194 (Increased circulating UDP glucose-4-epimerase concentration)\n", + " \n", + " \n", + " An increase in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose.\n", + " definition of HP:0410194 (Increased circulating UDP glucose-4-epimerase concentration)\n", + " \n", + " \n", + " #Increased circulating uridine diphosphate glucose-4-epimerase concentration #Increased UDP-glucose 4-epimerase level in plasma #Increased uridine diphosphate glucose-4-epimerase level in plasma\n", + " definition of HP:0410194 (Increased circulating UDP glucose-4-epimerase concentration)\n", + " \n", + " \n", + " Sloping radial epiphyses\n", + " definition of HP:0004008 (Sloping radial epiphyses)\n", + " \n", + " \n", + " Muscle fiber hyaline bodies\n", + " definition of HP:0100306 (Muscle fiber hyaline bodies)\n", + " \n", + " \n", + " Subsarcolemmal, eosinophilic glass-like regions in the cytoplasm of muscle fibers. Hyaline bodies show significant reactivity to myofibrillar ATPase after acid pre-incubation and with immunohistochemistry, show intense reactivity with only slow myosin heavy chain. Electron microscopy of the affected areas show a lack of myofibrils and a uniform, finely granular matrix, sometimes suggesting a filamentous nature, containing few scattered nuclei and mitochondria.\n", + " definition of HP:0100306 (Muscle fiber hyaline bodies)\n", + " \n", + " \n", + " #Muscle fibre hyaline bodies\n", + " definition of HP:0100306 (Muscle fiber hyaline bodies)\n", + " \n", + " \n", + " Tactile agnosia\n", + " definition of HP:5200406 (Tactile agnosia)\n", + " \n", + " \n", + " The inability to recognize objects by touch is called tactile agnosia.\n", + " definition of HP:5200406 (Tactile agnosia)\n", + " \n", + " \n", + " Periodic\n", + " definition of HP:0025304 (Periodic)\n", + " \n", + " \n", + " Applies to a sign, symptom, or other manifestation that recurs with a fixed time interval, i.e., the symptom-free periods are always of the same length.\n", + " definition of HP:0025304 (Periodic)\n", + " \n", + " \n", + " #Cyclic #Cyclical\n", + " definition of HP:0025304 (Periodic)\n", + " \n", + " \n", + " Decreased Achilles reflex\n", + " definition of HP:0009072 (Decreased Achilles reflex)\n", + " \n", + " \n", + " Decreased intensity of the Achilles reflex (also known as the ankle jerk reflex), which can be elicited by tapping the tendon is tapped while the foot is dorsiflexed.\n", + " definition of HP:0009072 (Decreased Achilles reflex)\n", + " \n", + " \n", + " #Hyporeflexia at ankle joints\n", + " definition of HP:0009072 (Decreased Achilles reflex)\n", + " \n", + " \n", + " Specific learning disability\n", + " definition of HP:0001328 (Specific learning disability)\n", + " \n", + " \n", + " Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.\n", + " definition of HP:0001328 (Specific learning disability)\n", + " \n", + " \n", + " Hyperphosphatemia\n", + " definition of HP:0002905 (Hyperphosphatemia)\n", + " \n", + " \n", + " An abnormally increased phosphate concentration in the blood.\n", + " definition of HP:0002905 (Hyperphosphatemia)\n", + " \n", + " \n", + " #High blood phosphate levels\n", + " definition of HP:0002905 (Hyperphosphatemia)\n", + " \n", + " \n", + " Small cerebral cortex\n", + " definition of HP:0002472 (Small cerebral cortex)\n", + " \n", + " \n", + " Reduced size of the cerebral cortex.\n", + " definition of HP:0002472 (Small cerebral cortex)\n", + " \n", + " \n", + " #Decreased volume of cerebral cortex\n", + " definition of HP:0002472 (Small cerebral cortex)\n", + " \n", + " \n", + " Philtrum with midline raphe\n", + " definition of HP:0011826 (Philtrum with midline raphe)\n", + " \n", + " \n", + " Narrow ridge in the midline of the philtral groove.\n", + " definition of HP:0011826 (Philtrum with midline raphe)\n", + " \n", + " \n", + " #Philtrum with central raphe #Philtrum with midline ridge #Philtrum, midline raphe\n", + " definition of HP:0011826 (Philtrum with midline raphe)\n", + " \n", + " \n", + " Drug-sensitive hemolytic anemia\n", + " definition of HP:0004817 (Drug-sensitive hemolytic anemia)\n", + " \n", + " \n", + " A form of hemolytic anemia that is triggered by ingestion of certain drugs.\n", + " definition of HP:0004817 (Drug-sensitive hemolytic anemia)\n", + " \n", + " \n", + " #Drug-sensitive hemolytic anaemia\n", + " definition of HP:0004817 (Drug-sensitive hemolytic anemia)\n", + " \n", + " \n", + " Abnormal pulmonary artery physiology\n", + " definition of HP:0030967 (Abnormal pulmonary artery physiology)\n", + " \n", + " \n", + " An abnormality of the function of the pulmonary artery.\n", + " definition of HP:0030967 (Abnormal pulmonary artery physiology)\n", + " \n", + " \n", + " Positive plasma/serum cotinine test\n", + " definition of HP:0410208 (Positive plasma/serum cotinine test)\n", + " \n", + " \n", + " Detection of cotinine, an alkaloid found in tobacco and the predominant metabolite of nicotine, in plasma or serum.\n", + " definition of HP:0410208 (Positive plasma/serum cotinine test)\n", + " \n", + " \n", + " Focal impaired awareness cognitive seizure with illusion\n", + " definition of HP:0032872 (Focal impaired awareness cognitive seizure with illusion)\n", + " \n", + " \n", + " A focal cognitive seizure with illusion characterized by impairment of awareness at some point during the seizure.\n", + " definition of HP:0032872 (Focal impaired awareness cognitive seizure with illusion)\n", + " \n", + " \n", + " Abnormal inner ear epithelium morphology\n", + " definition of HP:3000002 (Abnormal inner ear epithelium morphology)\n", + " \n", + " \n", + " Any structural anomaly of an inner ear epithelium.\n", + " definition of HP:3000002 (Abnormal inner ear epithelium morphology)\n", + " \n", + " \n", + " Expressive language delay\n", + " definition of HP:0002474 (Expressive language delay)\n", + " \n", + " \n", + " A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts.\n", + " definition of HP:0002474 (Expressive language delay)\n", + " \n", + " \n", + " #Deficit in expressive language\n", + " definition of HP:0002474 (Expressive language delay)\n", + " \n", + " \n", + " Thin ear helix\n", + " definition of HP:0009905 (Thin ear helix)\n", + " \n", + " \n", + " Decreased thickness of the helix of the ear.\n", + " definition of HP:0009905 (Thin ear helix)\n", + " \n", + " \n", + " Inferior rectus muscle overaction\n", + " definition of HP:0031743 (Inferior rectus muscle overaction)\n", + " \n", + " \n", + " Excessive action of the inferior rectus muscle caused by increased innervation typically as a consequence of palsy or limitation to the ipsilateral antagonist or contralateral synergist.\n", + " definition of HP:0031743 (Inferior rectus muscle overaction)\n", + " \n", + " \n", + " Bilateral renal atrophy\n", + " definition of HP:0012586 (Bilateral renal atrophy)\n", + " \n", + " \n", + " A two-sided form of atrophy of the kidney.\n", + " definition of HP:0012586 (Bilateral renal atrophy)\n", + " \n", + " \n", + " #Bilateral kidney degeneration\n", + " definition of HP:0012586 (Bilateral renal atrophy)\n", + " \n", + " \n", + " Anorchism\n", + " definition of HP:0030869 (Anorchism)\n", + " \n", + " \n", + " An abnormality of XY sexual development characterized by the absence of both testes at birth.\n", + " definition of HP:0030869 (Anorchism)\n", + " \n", + " \n", + " Furrowed tongue\n", + " definition of HP:0000221 (Furrowed tongue)\n", + " \n", + " \n", + " Accentuation of the grooves on the dorsal surface of the tongue.\n", + " definition of HP:0000221 (Furrowed tongue)\n", + " \n", + " \n", + " #Fissured tongue #Grooved tongue #Lingua plicata #Lingual furrow #Plicated tongue #Prominent tongue grooves #Scrotal tongue\n", + " definition of HP:0000221 (Furrowed tongue)\n", + " \n", + " \n", + " Wide capital femoral epiphyses\n", + " definition of HP:0008784 (Wide capital femoral epiphyses)\n", + " \n", + " \n", + " Abnormally wide morphology of the proximal epiphysis of the femur.\n", + " definition of HP:0008784 (Wide capital femoral epiphyses)\n", + " \n", + " \n", + " #Wide end part of innermost thighbone\n", + " definition of HP:0008784 (Wide capital femoral epiphyses)\n", + " \n", + " \n", + " Ankle weakness\n", + " definition of HP:0031374 (Ankle weakness)\n", + " \n", + " \n", + " Reduced strength of the muscles that lift or otherwise move the foot at the ankle.\n", + " definition of HP:0031374 (Ankle weakness)\n", + " \n", + " \n", + " Symphalangism affecting the proximal phalanx of the 5th finger\n", + " definition of HP:0009232 (Symphalangism affecting the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " Fusion of the proximal phalanx of the 5th finger with another bone.\n", + " definition of HP:0009232 (Symphalangism affecting the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " #Fused innermost bone of little finger #Fused innermost bone of pinkie finger #Fused innermost bone of pinky finger\n", + " definition of HP:0009232 (Symphalangism affecting the proximal phalanx of the 5th finger)\n", + " \n", + " \n", + " Band keratopathy\n", + " definition of HP:0000585 (Band keratopathy)\n", + " \n", + " \n", + " An abnormality of the cornea characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation.\n", + " definition of HP:0000585 (Band keratopathy)\n", + " \n", + " \n", + " #Calcific band keratopathy\n", + " definition of HP:0000585 (Band keratopathy)\n", + " \n", + " \n", + " Cholangiocarcinoma\n", + " definition of HP:0030153 (Cholangiocarcinoma)\n", + " \n", + " \n", + " Cholangiocarcinoma is a primary cancer originating in the biliary epithelium i.e., the cholangiocytes, of the extrahepatic and intrahepatic biliary ducts. It is extremely invasive, develops rapidly, often metastasizes, and has a very poor prognosis. They are slow growing tumors which spread longitudinally along the bile ducts with neural, perineural and subepithelial extension.\n", + " definition of HP:0030153 (Cholangiocarcinoma)\n", + " \n", + " \n", + " #Bile duct cancer\n", + " definition of HP:0030153 (Cholangiocarcinoma)\n", + " \n", + " \n", + " Ambiguous facial expression\n", + " definition of HP:5200013 (Ambiguous facial expression)\n", + " \n", + " \n", + " Spontaneous production of communicative facial expressions that have poor quality or are perceived as odd or mechanical. This may include inaccurate mimicry of typical facial expressions. These expressions may be difficult to interpret for someone who is not familiar with the individual making the expression.\n", + " definition of HP:5200013 (Ambiguous facial expression)\n", + " \n", + " \n", + " Perineal hemangioma\n", + " definition of HP:0031449 (Perineal hemangioma)\n", + " \n", + " \n", + " Hemangioma, a benign tumor of the vascular endothelial cells, located in the perineal region, i.e., the region between the anus and the genitals.\n", + " definition of HP:0031449 (Perineal hemangioma)\n", + " \n", + " \n", + " Valproate exposure\n", + " definition of HP:4000117 (Valproate exposure)\n", + " \n", + " \n", + " History of having taken valproate (valproic acid).\n", + " definition of HP:4000117 (Valproate exposure)\n", + " \n", + " \n", + " Abnormal lower-limb motor evoked potentials\n", + " definition of HP:0012898 (Abnormal lower-limb motor evoked potentials)\n", + " \n", + " \n", + " An anomaly identified by motor evoked potentials (MEPs) in the leg.\n", + " definition of HP:0012898 (Abnormal lower-limb motor evoked potentials)\n", + " \n", + " \n", + " #Abnormal motor evoked potentials in the lower limb\n", + " definition of HP:0012898 (Abnormal lower-limb motor evoked potentials)\n", + " \n", + " \n", + " Absent muscle fiber delta sarcoglycan\n", + " definition of HP:0030110 (Absent muscle fiber delta sarcoglycan)\n", + " \n", + " \n", + " Immunohistochemistry shows complete lack of delta sarcoglycan protein in the muscle biopsy.\n", + " definition of HP:0030110 (Absent muscle fiber delta sarcoglycan)\n", + " \n", + " \n", + " #Absent muscle fibre delta sarcoglycan\n", + " definition of HP:0030110 (Absent muscle fiber delta sarcoglycan)\n", + " \n", + " \n", + " Positive bloodstream tuberculosis-induced T-cell-based interferon-gamma release assay\n", + " definition of HP:6000901 (Positive bloodstream tuberculosis-induced T-cell-based interferon-gamma release assay)\n", + " \n", + " \n", + " Detection of Mycobacterium tuberculosis in the bloodstream by means of detection of interferon-gamma secreted by T cells in response to specific antigens from Mycobacterium tuberculosis, commonly 6kD early secretory antigenic target-6 and 10kD culture filtrate protein-10.\n", + " definition of HP:6000901 (Positive bloodstream tuberculosis-induced T-cell-based interferon-gamma release assay)\n", + " \n", + " \n", + " #Positive T-SPOT-tuberculosis test in the bloodstream\n", + " definition of HP:6000901 (Positive bloodstream tuberculosis-induced T-cell-based interferon-gamma release assay)\n", + " \n", + " \n", + " Abnormal serum estradiol\n", + " definition of HP:0025133 (Abnormal serum estradiol)\n", + " \n", + " \n", + " A deviation from normal concentrations of estradiol in the circulation.\n", + " definition of HP:0025133 (Abnormal serum estradiol)\n", + " \n", + " \n", + " Post-vaccination varicella zoster virus infection\n", + " definition of HP:4000166 (Post-vaccination varicella zoster virus infection)\n", + " \n", + " \n", + " Infection with live, attenuated varicella-zoster virus following vaccination. This is an extremely rare event that may indicate immunocompromise.\n", + " definition of HP:4000166 (Post-vaccination varicella zoster virus infection)\n", + " \n", + " \n", + " #Varicella zoster virus infection after vaccination\n", + " definition of HP:4000166 (Post-vaccination varicella zoster virus infection)\n", + " \n", + " \n", + " Triggered by electromagnetic field\n", + " definition of HP:4000109 (Triggered by electromagnetic field)\n", + " \n", + " \n", + " Applies to a sign or symptom that is provoked or brought about by exposure to an electromagnetic field.\n", + " definition of HP:4000109 (Triggered by electromagnetic field)\n", + " \n", + " \n", + " #Electromagnetic field triggers symptoms\n", + " definition of HP:4000109 (Triggered by electromagnetic field)\n", + " \n", + " \n", + " Reduced circulating pyrimidine 5-prime-nucleotidase activity\n", + " definition of HP:6000240 (Reduced circulating pyrimidine 5-prime-nucleotidase activity)\n", + " \n", + " \n", + " The activity of concentration of pyrimidine 5-prime-nucleotidase (EC 3.1.3.5) in the blood circulation is below the lower limit of normal.\n", + " definition of HP:6000240 (Reduced circulating pyrimidine 5-prime-nucleotidase activity)\n", + " \n", + " \n", + " Increased erythrocyte protoporphyrin concentration\n", + " definition of HP:0012187 (Increased erythrocyte protoporphyrin concentration)\n", + " \n", + " \n", + " Concentration of protoporphyrins in erythrocytes above the upper limit of normal.\n", + " definition of HP:0012187 (Increased erythrocyte protoporphyrin concentration)\n", + " \n", + " \n", + " Brittle scalp hair\n", + " definition of HP:0004779 (Brittle scalp hair)\n", + " \n", + " \n", + " Fragile, easily breakable scalp hair.\n", + " definition of HP:0004779 (Brittle scalp hair)\n", + " \n", + " \n", + " #Brittle scalp hair\n", + " definition of HP:0004779 (Brittle scalp hair)\n", + " \n", + " \n", + " Reduced circulating NT-proANP concentration\n", + " definition of HP:6000693 (Reduced circulating NT-proANP concentration)\n", + " \n", + " \n", + " The concentration of NT-proANP in the blood circulation is below the lower limit of normal.\n", + " definition of HP:6000693 (Reduced circulating NT-proANP concentration)\n", + " \n", + " \n", + " #Reduced long-acting natriuretic peptide concentration\n", + " definition of HP:6000693 (Reduced circulating NT-proANP concentration)\n", + " \n", + " \n", + " Dysplasia of the femoral head\n", + " definition of HP:0010575 (Dysplasia of the femoral head)\n", + " \n", + " \n", + " The presence of developmental dysplasia of the femoral head.\n", + " definition of HP:0010575 (Dysplasia of the femoral head)\n", + " \n", + " \n", + " #Dysplastic femoral head\n", + " definition of HP:0010575 (Dysplasia of the femoral head)\n", + " \n", + " \n", + " Cat cry\n", + " definition of HP:0200046 (Cat cry)\n", + " \n", + " \n", + " The presence of a characteristic high-pitched cry that sounds similar to the meowing of a kitten.\n", + " definition of HP:0200046 (Cat cry)\n", + " \n", + " \n", + " #Cat cry #cat-like cry\n", + " definition of HP:0200046 (Cat cry)\n", + " \n", + " \n", + " Iris nevus\n", + " definition of HP:0011525 (Iris nevus)\n", + " \n", + " \n", + " A benign brown pigmented area over the iris representing proliferation of melanocyte cells in the stromal layer of the iris. An iris nevus can be flat or occasionally slightly elevated.\n", + " definition of HP:0011525 (Iris nevus)\n", + " \n", + " \n", + " #Eye freckle\n", + " definition of HP:0011525 (Iris nevus)\n", + " \n", + " \n", + " Elevated urinary saccharopine level\n", + " definition of HP:6000283 (Elevated urinary saccharopine level)\n", + " \n", + " \n", + " The amount of saccharopine in the urine, when normalized to urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000283 (Elevated urinary saccharopine level)\n", + " \n", + " \n", + " Amplification of emotional responsiveness\n", + " definition of HP:5200323 (Amplification of emotional responsiveness)\n", + " \n", + " \n", + " An increase in the tendency of a person to display emotional responsiveness or emotional empathy towards others during interpersonal interactions as compared to that person's previous norm. May be considered to be overreactive or over-engaged with interpersonal situations that may take on a persistent preoccupation and would appear to be relatively unrelated to the person, and beyond the expression of normal empathy.\n", + " definition of HP:5200323 (Amplification of emotional responsiveness)\n", + " \n", + " \n", + " #Increase in emotional responsiveness\n", + " definition of HP:5200323 (Amplification of emotional responsiveness)\n", + " \n", + " \n", + " Small epiphysis of the middle phalanx of the 4th finger\n", + " definition of HP:0009222 (Small epiphysis of the middle phalanx of the 4th finger)\n", + " \n", + " \n", + " Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms.\n", + " definition of HP:0009222 (Small epiphysis of the middle phalanx of the 4th finger)\n", + " \n", + " \n", + " #Small end part of the middle bone of the ring finger\n", + " definition of HP:0009222 (Small epiphysis of the middle phalanx of the 4th finger)\n", + " \n", + " \n", + " Partial duplication of the proximal phalanx of the 3rd finger\n", + " definition of HP:0009970 (Partial duplication of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Partial duplication of the third proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx.\n", + " definition of HP:0009970 (Partial duplication of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Partial duplication of the proximal bone of the middle finger\n", + " definition of HP:0009970 (Partial duplication of the proximal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Mitral annular calcification\n", + " definition of HP:0005136 (Mitral annular calcification)\n", + " \n", + " \n", + " Mitral annular calcification (MAC) results from progressive calcium deposition along and beneath the mitral valve annulus.\n", + " definition of HP:0005136 (Mitral annular calcification)\n", + " \n", + " \n", + " #Premature calcification of mitral annulus\n", + " definition of HP:0005136 (Mitral annular calcification)\n", + " \n", + " \n", + " Abnormal cerebral cortex morphology\n", + " definition of HP:0002538 (Abnormal cerebral cortex morphology)\n", + " \n", + " \n", + " Any structural abnormality of the cerebral cortex.\n", + " definition of HP:0002538 (Abnormal cerebral cortex morphology)\n", + " \n", + " \n", + " #Abnormality of the cerebral cortex\n", + " definition of HP:0002538 (Abnormal cerebral cortex morphology)\n", + " \n", + " \n", + " Reduced volume of central subdivision of bed nucleus of stria terminalis\n", + " definition of HP:0030797 (Reduced volume of central subdivision of bed nucleus of stria terminalis)\n", + " \n", + " \n", + " A diminished volume of the central part of the bed nucleus of the stria terminalis.\n", + " definition of HP:0030797 (Reduced volume of central subdivision of bed nucleus of stria terminalis)\n", + " \n", + " \n", + " Avulsion fractured epiphysis of femur\n", + " definition of HP:0041091 (Avulsion fractured epiphysis of femur)\n", + " \n", + " \n", + " A fractured in which the fragment of the epiphysis of femur bone tears away from the main mass of bone as a result of physical trauma.\n", + " definition of HP:0041091 (Avulsion fractured epiphysis of femur)\n", + " \n", + " \n", + " Vascular calcification\n", + " definition of HP:0004934 (Vascular calcification)\n", + " \n", + " \n", + " Abnormal calcification of the vasculature.\n", + " definition of HP:0004934 (Vascular calcification)\n", + " \n", + " \n", + " Tympanic membrane hypermobility\n", + " definition of HP:6000015 (Tympanic membrane hypermobility)\n", + " \n", + " \n", + " Abnormally increased ability to move of the tympanic membrane.\n", + " definition of HP:6000015 (Tympanic membrane hypermobility)\n", + " \n", + " \n", + " Airway mucosal thickening\n", + " definition of HP:6000099 (Airway mucosal thickening)\n", + " \n", + " \n", + " Increase in thickness of the mucosa of the airways above the upper limit of normal.\n", + " definition of HP:6000099 (Airway mucosal thickening)\n", + " \n", + " \n", + " EEG with parietal sharp slow waves\n", + " definition of HP:0011288 (EEG with parietal sharp slow waves)\n", + " \n", + " \n", + " EEG with sharp slow waves in the parietal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave.\n", + " definition of HP:0011288 (EEG with parietal sharp slow waves)\n", + " \n", + " \n", + " Protein craving\n", + " definition of HP:6000785 (Protein craving)\n", + " \n", + " \n", + " Unusually strong preference for protein-rich foods.\n", + " definition of HP:6000785 (Protein craving)\n", + " \n", + " \n", + " Abnormal interest in others\n", + " definition of HP:5200020 (Abnormal interest in others)\n", + " \n", + " \n", + " A social interest in others that is abnormal given the social context. This can include an increased interest with another person or an abnormal lack of interest in other people.\n", + " definition of HP:5200020 (Abnormal interest in others)\n", + " \n", + " \n", + " Glomerular endocapillary neutrophil hypercellularity\n", + " definition of HP:0033489 (Glomerular endocapillary neutrophil hypercellularity)\n", + " \n", + " \n", + " Increased number of neutrophils internal to the glomerular basement membrane (GBM), but not limited to within glomerular capillaries.\n", + " definition of HP:0033489 (Glomerular endocapillary neutrophil hypercellularity)\n", + " \n", + " \n", + " Prominent antihelix\n", + " definition of HP:0000395 (Prominent antihelix)\n", + " \n", + " \n", + " The presence of an abnormally prominent antihelix.\n", + " definition of HP:0000395 (Prominent antihelix)\n", + " \n", + " \n", + " Nuclear pulverulent cataract\n", + " definition of HP:0010698 (Nuclear pulverulent cataract)\n", + " \n", + " \n", + " A type of nuclear cataract involving congenital dust-like (pulverulent) opacity of the embryonal and fetal nucleus.\n", + " definition of HP:0010698 (Nuclear pulverulent cataract)\n", + " \n", + " \n", + " #cataracta pulverulenta centralis #Central pulverulent cataract #Coppock-like cataract #Pulverulent nuclear cataract\n", + " definition of HP:0010698 (Nuclear pulverulent cataract)\n", + " \n", + " \n", + " Slender proximal phalanx of finger\n", + " definition of HP:0012297 (Slender proximal phalanx of finger)\n", + " \n", + " \n", + " Reduced diameter of the proximal phalanx of finger.\n", + " definition of HP:0012297 (Slender proximal phalanx of finger)\n", + " \n", + " \n", + " #Slender innermost bone of finger\n", + " definition of HP:0012297 (Slender proximal phalanx of finger)\n", + " \n", + " \n", + " Diagonal earlobe crease\n", + " definition of HP:0031511 (Diagonal earlobe crease)\n", + " \n", + " \n", + " Diagonal earlobe creases run from the lower pole of the external meatus, diagonally backwards to the edge of the lobe at approximately 45 degrees.\n", + " definition of HP:0031511 (Diagonal earlobe crease)\n", + " \n", + " \n", + " Abnormal vertebral artery morphology\n", + " definition of HP:0030321 (Abnormal vertebral artery morphology)\n", + " \n", + " \n", + " An anomaly of the vertebral artery, the major artery of the neck that originates from the subclavian artery and merges to form the single midline basilar artery in a complex called the vertebrobasilar system.\n", + " definition of HP:0030321 (Abnormal vertebral artery morphology)\n", + " \n", + " \n", + " #Abnormality of the vertebral artery\n", + " definition of HP:0030321 (Abnormal vertebral artery morphology)\n", + " \n", + " \n", + " Elevated circulating 3-methylhistidine concentration\n", + " definition of HP:0033157 (Elevated circulating 3-methylhistidine concentration)\n", + " \n", + " \n", + " Abnormal increase of the concentration of 3-methylhistidine in the blood circulation.\n", + " definition of HP:0033157 (Elevated circulating 3-methylhistidine concentration)\n", + " \n", + " \n", + " Megaloblastic erythroid hyperplasia\n", + " definition of HP:0200143 (Megaloblastic erythroid hyperplasia)\n", + " \n", + " \n", + " Renal medullary hyperechogenicity\n", + " definition of HP:0033131 (Renal medullary hyperechogenicity)\n", + " \n", + " \n", + " Increased echogenecity of the medullary region of the kidney.\n", + " definition of HP:0033131 (Renal medullary hyperechogenicity)\n", + " \n", + " \n", + " #Increased renal medullary echogenicity\n", + " definition of HP:0033131 (Renal medullary hyperechogenicity)\n", + " \n", + " \n", + " Absent nasal bridge\n", + " definition of HP:0005285 (Absent nasal bridge)\n", + " \n", + " \n", + " #Absent bridge of nose #Absent nasal bridge #Agenesis of bridge of nose #Agenesis of nasal bridge #Missing bridge of nose #Missing nasal bridge\n", + " definition of HP:0005285 (Absent nasal bridge)\n", + " \n", + " \n", + " Paracentral hyper-autofluorecence\n", + " definition of HP:6000769 (Paracentral hyper-autofluorecence)\n", + " \n", + " \n", + " Increased autofluorescence in areas adjacent to the central macula (but not including the very center).\n", + " definition of HP:6000769 (Paracentral hyper-autofluorecence)\n", + " \n", + " \n", + " Excessive dynamic airway collapse\n", + " definition of HP:0033979 (Excessive dynamic airway collapse)\n", + " \n", + " \n", + " Excessive anterior displacement of the tracheal and/or bronchial membranous wall.\n", + " definition of HP:0033979 (Excessive dynamic airway collapse)\n", + " \n", + " \n", + " #Membranous tracheobronchomalacia\n", + " definition of HP:0033979 (Excessive dynamic airway collapse)\n", + " \n", + " \n", + " Neonatal hypotonia\n", + " definition of HP:0001319 (Neonatal hypotonia)\n", + " \n", + " \n", + " Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.\n", + " definition of HP:0001319 (Neonatal hypotonia)\n", + " \n", + " \n", + " #Hypotonia, in neonatal onset #Hypotonia, neonatal #Low muscle tone, in neonatal onset\n", + " definition of HP:0001319 (Neonatal hypotonia)\n", + " \n", + " \n", + " Flattened metatarsal heads\n", + " definition of HP:0005194 (Flattened metatarsal heads)\n", + " \n", + " \n", + " Abnormally flat shape of the heads of the metatarsal bones.\n", + " definition of HP:0005194 (Flattened metatarsal heads)\n", + " \n", + " \n", + " #Flattened head of long bone of foot\n", + " definition of HP:0005194 (Flattened metatarsal heads)\n", + " \n", + " \n", + " Pseudo-fractures\n", + " definition of HP:0100036 (Pseudo-fractures)\n", + " \n", + " \n", + " A band of bone material of decreased density forming alongside the surface of the cortical bone with thickening of the periosteum. Callus formation in the affected area is common and gives the appearance of a false fracture.\n", + " definition of HP:0100036 (Pseudo-fractures)\n", + " \n", + " \n", + " #Looser zones\n", + " definition of HP:0100036 (Pseudo-fractures)\n", + " \n", + " \n", + " Lentigo maligna melanoma\n", + " definition of HP:0012059 (Lentigo maligna melanoma)\n", + " \n", + " \n", + " A subtype of melanoma in situ that typically develops on sun-damaged skin. The lesion is typically a large, irregularly pigmented macule that has developed from an ordinary lentigo (a small pigmented spot on the skin with a clearly-defined edge). Change to a malignant lentigo typically takes place over 20 years or more, and many patients accept the change as a consequence of aging.\n", + " definition of HP:0012059 (Lentigo maligna melanoma)\n", + " \n", + " \n", + " Broad clavicles\n", + " definition of HP:0000916 (Broad clavicles)\n", + " \n", + " \n", + " Increased width (cross-sectional diameter) of the clavicles.\n", + " definition of HP:0000916 (Broad clavicles)\n", + " \n", + " \n", + " #Broad collarbone\n", + " definition of HP:0000916 (Broad clavicles)\n", + " \n", + " \n", + " Abnormal circulating acylcarnitine concentration\n", + " definition of HP:0012071 (Abnormal circulating acylcarnitine concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration in the blood circulation of an acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine.\n", + " definition of HP:0012071 (Abnormal circulating acylcarnitine concentration)\n", + " \n", + " \n", + " #Abnormal circulating esterified carnitine concentration\n", + " definition of HP:0012071 (Abnormal circulating acylcarnitine concentration)\n", + " \n", + " \n", + " Hypokalemic alkalosis\n", + " definition of HP:0001949 (Hypokalemic alkalosis)\n", + " \n", + " \n", + " Hypoplasia of the optic tract\n", + " definition of HP:0007096 (Hypoplasia of the optic tract)\n", + " \n", + " \n", + " #Underdeveloped optic tract\n", + " definition of HP:0007096 (Hypoplasia of the optic tract)\n", + " \n", + " \n", + " Band-shaped corneal dystrophy\n", + " definition of HP:0007709 (Band-shaped corneal dystrophy)\n", + " \n", + " \n", + " A type of genetically determined disease of the cornea with corneal lesions with a band-like shape.\n", + " definition of HP:0007709 (Band-shaped corneal dystrophy)\n", + " \n", + " \n", + " Fused teeth\n", + " definition of HP:0011090 (Fused teeth)\n", + " \n", + " \n", + " The union of two separately developing tooth germs typically leading to one less tooth than normal in the affected dental arch.\n", + " definition of HP:0011090 (Fused teeth)\n", + " \n", + " \n", + " #Fused teeth #Fusion of teeth #Joined teeth\n", + " definition of HP:0011090 (Fused teeth)\n", + " \n", + " \n", + " Transient neonatal diabetes mellitus\n", + " definition of HP:0008255 (Transient neonatal diabetes mellitus)\n", + " \n", + " \n", + " Increased urinary N-acetylglucosamine-rich oligosaccharide level\n", + " definition of HP:6000122 (Increased urinary N-acetylglucosamine-rich oligosaccharide level)\n", + " \n", + " \n", + " Presence of N-acetylglucosamine-rich oligosaccharides in the urine.\n", + " definition of HP:6000122 (Increased urinary N-acetylglucosamine-rich oligosaccharide level)\n", + " \n", + " \n", + " Elevated urinary 3-hydroxyadipic acid level\n", + " definition of HP:6000609 (Elevated urinary 3-hydroxyadipic acid level)\n", + " \n", + " \n", + " The amount of 3-hydroxyadipic acid in the urine, normalized for urine concentration, is above the upper limit of normal.\n", + " definition of HP:6000609 (Elevated urinary 3-hydroxyadipic acid level)\n", + " \n", + " \n", + " #Elevated urinary 3-hydroxyadipate level\n", + " definition of HP:6000609 (Elevated urinary 3-hydroxyadipic acid level)\n", + " \n", + " \n", + " EEG with irregular generalized spike and wave complexes\n", + " definition of HP:0001326 (EEG with irregular generalized spike and wave complexes)\n", + " \n", + " \n", + " EEG shows spikes (<80 ms) and waves, which are recorded over the entire scalp and do not have a specific frequency.\n", + " definition of HP:0001326 (EEG with irregular generalized spike and wave complexes)\n", + " \n", + " \n", + " #EEG with irregular generalised spike and wave complexes\n", + " definition of HP:0001326 (EEG with irregular generalized spike and wave complexes)\n", + " \n", + " \n", + " Penile swelling\n", + " definition of HP:6000087 (Penile swelling)\n", + " \n", + " \n", + " Abormal enlargement of the penis owing to accumulation of fluid.\n", + " definition of HP:6000087 (Penile swelling)\n", + " \n", + " \n", + " #Penile edema #Penile oedema\n", + " definition of HP:6000087 (Penile swelling)\n", + " \n", + " \n", + " Malignant hyperthermia\n", + " definition of HP:0002047 (Malignant hyperthermia)\n", + " \n", + " \n", + " Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C. Malignant hyperthermia may occur in response to either inhalational anesthetics such as halothane, to muscle relaxants such as succinylcholine, or to exercise.\n", + " definition of HP:0002047 (Malignant hyperthermia)\n", + " \n", + " \n", + " Hypoplasia of the retina\n", + " definition of HP:0007770 (Hypoplasia of the retina)\n", + " \n", + " \n", + " #Retinal hypoplasia #Underdeveloped retina\n", + " definition of HP:0007770 (Hypoplasia of the retina)\n", + " \n", + " \n", + " Increased muscle succinate dehydrogenase staining\n", + " definition of HP:0034791 (Increased muscle succinate dehydrogenase staining)\n", + " \n", + " \n", + " Hyperplasia of the premaxilla\n", + " definition of HP:0430029 (Hyperplasia of the premaxilla)\n", + " \n", + " \n", + " An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively large in size compared to the other parts of the maxilla or other facial structures.\n", + " definition of HP:0430029 (Hyperplasia of the premaxilla)\n", + " \n", + " \n", + " #Hyperplasia of the intermaxillary bone #Hyperplasia of the primary palate bone #Increased size of premaxilla #Increased size of the primary palate bone #Large premaxilla #Large primary palate bone #Premaxillary excess #Primary palate bone excess\n", + " definition of HP:0430029 (Hyperplasia of the premaxilla)\n", + " \n", + " \n", + " Elevated circulating tiglylcarnitine concentration\n", + " definition of HP:0035031 (Elevated circulating tiglylcarnitine concentration)\n", + " \n", + " \n", + " Concentration of tiglylcarnitine (C5:1) in the blood circulation above the upper limit of normal.\n", + " definition of HP:0035031 (Elevated circulating tiglylcarnitine concentration)\n", + " \n", + " \n", + " #Elevated circulating C5:1 acylcarnitine concentration\n", + " definition of HP:0035031 (Elevated circulating tiglylcarnitine concentration)\n", + " \n", + " \n", + " Positive blood arsenic test\n", + " definition of HP:0032450 (Positive blood arsenic test)\n", + " \n", + " \n", + " Detection of arsenic in the blood circulation.\n", + " definition of HP:0032450 (Positive blood arsenic test)\n", + " \n", + " \n", + " Reduced euglobulin clot lysis time\n", + " definition of HP:0040247 (Reduced euglobulin clot lysis time)\n", + " \n", + " \n", + " Abnormally decreased length of time required for an in vitro clot to dissolve in the absence of the normal plasmin inhibitors. This test is a clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored.\n", + " definition of HP:0040247 (Reduced euglobulin clot lysis time)\n", + " \n", + " \n", + " Sparse facial hair\n", + " definition of HP:0007464 (Sparse facial hair)\n", + " \n", + " \n", + " Reduced number or density of facial hair.\n", + " definition of HP:0007464 (Sparse facial hair)\n", + " \n", + " \n", + " #Sparse facial hair\n", + " definition of HP:0007464 (Sparse facial hair)\n", + " \n", + " \n", + " Bilateral basal ganglia lesions\n", + " definition of HP:0007146 (Bilateral basal ganglia lesions)\n", + " \n", + " \n", + " Nystagmus-induced head nodding\n", + " definition of HP:0001361 (Nystagmus-induced head nodding)\n", + " \n", + " \n", + " Head movements associated with nystagmus, that may represent an attempt to compensate for the involuntary eye movements and to improve vision.\n", + " definition of HP:0001361 (Nystagmus-induced head nodding)\n", + " \n", + " \n", + " Pancreatitis\n", + " definition of HP:0001733 (Pancreatitis)\n", + " \n", + " \n", + " The presence of inflammation in the pancreas.\n", + " definition of HP:0001733 (Pancreatitis)\n", + " \n", + " \n", + " #Pancreatic inflammation\n", + " definition of HP:0001733 (Pancreatitis)\n", + " \n", + " \n", + " Rectal perforation\n", + " definition of HP:0031371 (Rectal perforation)\n", + " \n", + " \n", + " A hole (perforation) in the wall of the rectum.\n", + " definition of HP:0031371 (Rectal perforation)\n", + " \n", + " \n", + " Small epiphysis of the middle phalanx of the 5th finger\n", + " definition of HP:0009211 (Small epiphysis of the middle phalanx of the 5th finger)\n", + " \n", + " \n", + " Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms.\n", + " definition of HP:0009211 (Small epiphysis of the middle phalanx of the 5th finger)\n", + " \n", + " \n", + " #Small end part of the middle bone of the little finger #Small end part of the middle bone of the pinkie finger #Small end part of the middle bone of the pinky finger\n", + " definition of HP:0009211 (Small epiphysis of the middle phalanx of the 5th finger)\n", + " \n", + " \n", + " Stereotypical body rocking\n", + " definition of HP:0012172 (Stereotypical body rocking)\n", + " \n", + " \n", + " Habitual repetitive movement of the entire body, front to back or side to side.\n", + " definition of HP:0012172 (Stereotypical body rocking)\n", + " \n", + " \n", + " Anti-apolipoprotein CII autoantibody positivity\n", + " definition of HP:6001061 (Anti-apolipoprotein CII autoantibody positivity)\n", + " \n", + " \n", + " The presence of autoantibodies in the blood circulation that react against apoCII.\n", + " definition of HP:6001061 (Anti-apolipoprotein CII autoantibody positivity)\n", + " \n", + " \n", + " #Anti-apoCII autoantibody positivity\n", + " definition of HP:6001061 (Anti-apolipoprotein CII autoantibody positivity)\n", + " \n", + " \n", + " Inferior crossed fused renal ectopia\n", + " definition of HP:0034230 (Inferior crossed fused renal ectopia)\n", + " \n", + " \n", + " A type of cross fused renal ectopia characterized by fusion between the upper pole of the cross-fused ectopic kidney (located more inferiorly relative to the other kidney) and the lower pole of the other orthotopic kidney (located in a more superior position).\n", + " definition of HP:0034230 (Inferior crossed fused renal ectopia)\n", + " \n", + " \n", + " #Type A cross fused renal ectopia\n", + " definition of HP:0034230 (Inferior crossed fused renal ectopia)\n", + " \n", + " \n", + " Cystic acne\n", + " definition of HP:0033188 (Cystic acne)\n", + " \n", + " \n", + " A severe type of acne characterized by the formation of cysts enclosing a mixture of keratin and sebum.\n", + " definition of HP:0033188 (Cystic acne)\n", + " \n", + " \n", + " Acute phase response\n", + " definition of HP:0033331 (Acute phase response)\n", + " \n", + " \n", + " Presence of one or more manifestations of the acute phase response. Acute phase proteins (APP) are blood proteins primarily synthesized by hepatocytes as part of the acute phase response (APR). The APR is part of the early-defense or innate immune system, which is triggered by different stimuli including trauma, infection, stress, neoplasia, and inflammation. The APR results in a complex systemic reaction with the goal of reestablishing homeostasis and promoting healing.\n", + " definition of HP:0033331 (Acute phase response)\n", + " \n", + " \n", + " Microvesicular hepatic steatosis\n", + " definition of HP:0001414 (Microvesicular hepatic steatosis)\n", + " \n", + " \n", + " A form of hepatic steatosis characterized by the presence of small, lipid-laden vesicles in the affected hepatocytes.\n", + " definition of HP:0001414 (Microvesicular hepatic steatosis)\n", + " \n", + " \n", + " #Microvesicular steatosis\n", + " definition of HP:0001414 (Microvesicular hepatic steatosis)\n", + " \n", + " \n", + " Abnormal midface morphology\n", + " definition of HP:0000309 (Abnormal midface morphology)\n", + " \n", + " \n", + " An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface.\n", + " definition of HP:0000309 (Abnormal midface morphology)\n", + " \n", + " \n", + " #Abnormal morphology of the midface #Abnormality of the midface #Anomaly of the midface\n", + " definition of HP:0000309 (Abnormal midface morphology)\n", + " \n", + " \n", + " Reduced muscle carnitine level\n", + " definition of HP:0030362 (Reduced muscle carnitine level)\n", + " \n", + " \n", + " A reduction in the level of carnitine in muscle tissue.\n", + " definition of HP:0030362 (Reduced muscle carnitine level)\n", + " \n", + " \n", + " Peritoneal mass\n", + " definition of HP:0034971 (Peritoneal mass)\n", + " \n", + " \n", + " A swelling or enlargement localized to the peritoneal cavity. The word mass is usually used at an early stage of the diagnostic workup before the precise nature of the swelling has been determined.\n", + " definition of HP:0034971 (Peritoneal mass)\n", + " \n", + " \n", + " Reduced hepatic glucose-6-phosphatase activity\n", + " definition of HP:6000200 (Reduced hepatic glucose-6-phosphatase activity)\n", + " \n", + " \n", + " Activity of glucose-6-phosphatase (EC 3.1.3.9) in the liver below the lower limit of normal.\n", + " definition of HP:6000200 (Reduced hepatic glucose-6-phosphatase activity)\n", + " \n", + " \n", + " Congenital nystagmus\n", + " definition of HP:0006934 (Congenital nystagmus)\n", + " \n", + " \n", + " Nystagmus dating from or present at birth.\n", + " definition of HP:0006934 (Congenital nystagmus)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the uvula\n", + " definition of HP:0010293 (Aplasia/Hypoplasia of the uvula)\n", + " \n", + " \n", + " Underdevelopment or absence of the uvula.\n", + " definition of HP:0010293 (Aplasia/Hypoplasia of the uvula)\n", + " \n", + " \n", + " #Aplasia/hypoplasia of palatine uvula\n", + " definition of HP:0010293 (Aplasia/Hypoplasia of the uvula)\n", + " \n", + " \n", + " Cortical irregularity of humeral diaphysis\n", + " definition of HP:0003927 (Cortical irregularity of humeral diaphysis)\n", + " \n", + " \n", + " An abnormal irregularity of the cortical surface of the diaphysis (shaft) of the humerus.\n", + " definition of HP:0003927 (Cortical irregularity of humeral diaphysis)\n", + " \n", + " \n", + " Reduced circulating octadecenoylcarnitine concentration\n", + " definition of HP:0035033 (Reduced circulating octadecenoylcarnitine concentration)\n", + " \n", + " \n", + " Concentration of octadecenoylcarnitine (C18:1 acylcarnitine) in the blood circulation below the lower limit of normal.\n", + " definition of HP:0035033 (Reduced circulating octadecenoylcarnitine concentration)\n", + " \n", + " \n", + " #Reduced circulating C18:1 acylcarnitine concentration\n", + " definition of HP:0035033 (Reduced circulating octadecenoylcarnitine concentration)\n", + " \n", + " \n", + " Increased CSF tyrosine concentration\n", + " definition of HP:0500220 (Increased CSF tyrosine concentration)\n", + " \n", + " \n", + " Abnormally increased levels of tyrosine in cerebrospinal fluid.\n", + " definition of HP:0500220 (Increased CSF tyrosine concentration)\n", + " \n", + " \n", + " #High tyrosine levels in cerebrospinal fluid\n", + " definition of HP:0500220 (Increased CSF tyrosine concentration)\n", + " \n", + " \n", + " Abnormal circulating fatty-acid anion concentration\n", + " definition of HP:0010966 (Abnormal circulating fatty-acid anion concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of a fatty acid anion in the blood circulation.\n", + " definition of HP:0010966 (Abnormal circulating fatty-acid anion concentration)\n", + " \n", + " \n", + " #Abnormality of fatty acid anion\n", + " definition of HP:0010966 (Abnormal circulating fatty-acid anion concentration)\n", + " \n", + " \n", + " Auditory sensory seeking\n", + " definition of HP:5200062 (Auditory sensory seeking)\n", + " \n", + " \n", + " Pursuit of specific sounds or noises that is abnormal in intensity and/or frequency.\n", + " definition of HP:5200062 (Auditory sensory seeking)\n", + " \n", + " \n", + " Complete bilateral cleft lip\n", + " definition of HP:5201011 (Complete bilateral cleft lip)\n", + " \n", + " \n", + " Bilateral cleft lip in which the cleft lip on both sides is complete, i.e. start from the bottom of the upper lip and reach the nasal cavity.\n", + " definition of HP:5201011 (Complete bilateral cleft lip)\n", + " \n", + " \n", + " Abnormal size of the dental root\n", + " definition of HP:0040220 (Abnormal size of the dental root)\n", + " \n", + " \n", + " Absence of ganglioside GM3\n", + " definition of HP:0410370 (Absence of ganglioside GM3)\n", + " \n", + " \n", + " The absence of ganglioside GM3.\n", + " definition of HP:0410370 (Absence of ganglioside GM3)\n", + " \n", + " \n", + " Anti-beta-2-Glycoprotein I IgG antibody positivity\n", + " definition of HP:0034156 (Anti-beta-2-Glycoprotein I IgG antibody positivity)\n", + " \n", + " \n", + " Presence of IgG antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome.\n", + " definition of HP:0034156 (Anti-beta-2-Glycoprotein I IgG antibody positivity)\n", + " \n", + " \n", + " #Anti-beta2GPI IgG antibody positivity\n", + " definition of HP:0034156 (Anti-beta-2-Glycoprotein I IgG antibody positivity)\n", + " \n", + " \n", + " Alternating hypertropia\n", + " definition of HP:0500076 (Alternating hypertropia)\n", + " \n", + " \n", + " A type of vertical tropia in which, when one eye is fixing, the other eye is deviated upwards.\n", + " definition of HP:0500076 (Alternating hypertropia)\n", + " \n", + " \n", + " Oral lichenoid lesion\n", + " definition of HP:0031453 (Oral lichenoid lesion)\n", + " \n", + " \n", + " Multiple lesions of the oral mucosa resembling those characteristic of the disease lichen planus. These are symmetric reticular lesions that resemble a white, lacelike network, as well as by papules, plaques, erythematous lesions, and erosions.\n", + " definition of HP:0031453 (Oral lichenoid lesion)\n", + " \n", + " \n", + " Cutaneous myxoma\n", + " definition of HP:0030428 (Cutaneous myxoma)\n", + " \n", + " \n", + " A myxoma originating in the skin.\n", + " definition of HP:0030428 (Cutaneous myxoma)\n", + " \n", + " \n", + " Abnormality of thumb epiphysis\n", + " definition of HP:0009599 (Abnormality of thumb epiphysis)\n", + " \n", + " \n", + " Abnormality of one or all of the epiphyses of the proximal, and distal phalanges of the thumb and/or the 1st metacarpal.\n", + " definition of HP:0009599 (Abnormality of thumb epiphysis)\n", + " \n", + " \n", + " #Abnormality of end part of thumb long bone #Abnormality of the epiphyses of the thumb #Abnormality of thumb epiphyses\n", + " definition of HP:0009599 (Abnormality of thumb epiphysis)\n", + " \n", + " \n", + " Reduced hemoglobin A\n", + " definition of HP:0011905 (Reduced hemoglobin A)\n", + " \n", + " \n", + " Hemoglobin A (HbA) contains two globin alpha chains and two globin beta chains. HbA is normally the main adult hemoglobin, representing about 96-98 percent of all hemoglobin. This term represents a decreased in the proportion of HbA below this limit, and can be seen in various forms of thalassemia.\n", + " definition of HP:0011905 (Reduced hemoglobin A)\n", + " \n", + " \n", + " #Reduced haemoglobin A #Reduced HbA\n", + " definition of HP:0011905 (Reduced hemoglobin A)\n", + " \n", + " \n", + " Increased level of hippuric acid in urine\n", + " definition of HP:0410066 (Increased level of hippuric acid in urine)\n", + " \n", + " \n", + " An increase in the level of hippuric acid in the urine.\n", + " definition of HP:0410066 (Increased level of hippuric acid in urine)\n", + " \n", + " \n", + " #Increased level of N-benzoylglycine in urine\n", + " definition of HP:0410066 (Increased level of hippuric acid in urine)\n", + " \n", + " \n", + " Volar fingernail\n", + " definition of HP:0033976 (Volar fingernail)\n", + " \n", + " \n", + " The presence of an extra nail on the palmar (volar, ventral) surface of the finger.\n", + " definition of HP:0033976 (Volar fingernail)\n", + " \n", + " \n", + " #Palmar fingernail #Ventral fingernail\n", + " definition of HP:0033976 (Volar fingernail)\n", + " \n", + " \n", + " Recurrent mycobacterium avium complex infections\n", + " definition of HP:0011275 (Recurrent mycobacterium avium complex infections)\n", + " \n", + " \n", + " Increased susceptibility to mycobacterial avium complex infections, as manifested by recurrent episodes of mycobacterial infection.\n", + " definition of HP:0011275 (Recurrent mycobacterium avium complex infections)\n", + " \n", + " \n", + " Neoplasm of the ureter\n", + " definition of HP:0100516 (Neoplasm of the ureter)\n", + " \n", + " \n", + " The presence of a neoplasm of the ureter.\n", + " definition of HP:0100516 (Neoplasm of the ureter)\n", + " \n", + " \n", + " Lamina lucida cleavage\n", + " definition of HP:0003341 (Lamina lucida cleavage)\n", + " \n", + " \n", + " The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin.\n", + " definition of HP:0003341 (Lamina lucida cleavage)\n", + " \n", + " \n", + " #Blistering with junctional split #Junctional split #Subepidermal blistering with cleavage in the lamina lucida\n", + " definition of HP:0003341 (Lamina lucida cleavage)\n", + " \n", + " \n", + " Cerebral hemisphere mass lesion\n", + " definition of HP:6001083 (Cerebral hemisphere mass lesion)\n", + " \n", + " \n", + " An abnormal growth or accumulation of tissue in a hemisphere of the cerebrum. Typically a mass is an initial finding that will lead to additional workup.\n", + " definition of HP:6001083 (Cerebral hemisphere mass lesion)\n", + " \n", + " \n", + " Exacerbated by sodium channel blocking agent exposure\n", + " definition of HP:4000127 (Exacerbated by sodium channel blocking agent exposure)\n", + " \n", + " \n", + " Applied to a sign or symptom that is worsened by administration of sodium channel blocking agents such as phenytoin, carbamazepine, oxcarbazepine, lamotrigine, topiramate, and zonisamide.\n", + " definition of HP:4000127 (Exacerbated by sodium channel blocking agent exposure)\n", + " \n", + " \n", + " #Sodium channel blocking drugs aggravate findings\n", + " definition of HP:4000127 (Exacerbated by sodium channel blocking agent exposure)\n", + " \n", + " \n", + " Urinary oval fat bodies\n", + " definition of HP:0032958 (Urinary oval fat bodies)\n", + " \n", + " \n", + " The presence in the urine of desquamated tubular epithelial cells or macrophages filled with lipid droplets.\n", + " definition of HP:0032958 (Urinary oval fat bodies)\n", + " \n", + " \n", + " Aortic smooth muscle cell disorganization\n", + " definition of HP:0032088 (Aortic smooth muscle cell disorganization)\n", + " \n", + " \n", + " Nonparallel arrangement/disarray of smooth muscle cells of the aortic media creating focal/multifocal disarray or sometimes nodular aggregates of smooth muscle cells.\n", + " definition of HP:0032088 (Aortic smooth muscle cell disorganization)\n", + " \n", + " \n", + " #Aortic smooth muscle cell disorganisation\n", + " definition of HP:0032088 (Aortic smooth muscle cell disorganization)\n", + " \n", + " \n", + " Laryngeal obstruction\n", + " definition of HP:0005945 (Laryngeal obstruction)\n", + " \n", + " \n", + " Blockage of the upper airway at the level of the larynx often accompanied by respiratory distress.\n", + " definition of HP:0005945 (Laryngeal obstruction)\n", + " \n", + " \n", + " Vitelliform-like macular lesions\n", + " definition of HP:0007677 (Vitelliform-like macular lesions)\n", + " \n", + " \n", + " Vitelliform maculopathy is a sharply demarcated lesion caused by the accumulation of material, often lipofuscin in the subretinal space underlying the macula.\n", + " definition of HP:0007677 (Vitelliform-like macular lesions)\n", + " \n", + " \n", + " #Vitelliform macular lesions\n", + " definition of HP:0007677 (Vitelliform-like macular lesions)\n", + " \n", + " \n", + " Decreased circulating vitamin C concentration\n", + " definition of HP:0100510 (Decreased circulating vitamin C concentration)\n", + " \n", + " \n", + " The concentration of vitamin C in the blood circulation is below the lower limit of normal.\n", + " definition of HP:0100510 (Decreased circulating vitamin C concentration)\n", + " \n", + " \n", + " #Low levels of vitamin C #Vitamin C deficiency\n", + " definition of HP:0100510 (Decreased circulating vitamin C concentration)\n", + " \n", + " \n", + " Corneal asymmetry\n", + " definition of HP:0009915 (Corneal asymmetry)\n", + " \n", + " \n", + " The presence of a size difference between the left and right cornea.\n", + " definition of HP:0009915 (Corneal asymmetry)\n", + " \n", + " \n", + " #Asymmetry of the corneas\n", + " definition of HP:0009915 (Corneal asymmetry)\n", + " \n", + " \n", + " Overfolding of the superior helices\n", + " definition of HP:0004453 (Overfolding of the superior helices)\n", + " \n", + " \n", + " A condition in which the superior portion of the helix is folded over to a greater degree than normal.\n", + " definition of HP:0004453 (Overfolding of the superior helices)\n", + " \n", + " \n", + " #Overfolding of superior helix\n", + " definition of HP:0004453 (Overfolding of the superior helices)\n", + " \n", + " \n", + " Narrow jaw\n", + " definition of HP:0012801 (Narrow jaw)\n", + " \n", + " \n", + " Bigonial distance (lower facial width) more than 2 standard deviations below the mean (objective); or an apparently decreased width of the lower jaw (mandible) when viewed from the front (subjective).\n", + " definition of HP:0012801 (Narrow jaw)\n", + " \n", + " \n", + " #Narrow jaw #Narrow lower face #Narrow lower jaw #Narrow mandible\n", + " definition of HP:0012801 (Narrow jaw)\n", + " \n", + " \n", + " Cortical radial artery intraluminal thrombi\n", + " definition of HP:0033950 (Cortical radial artery intraluminal thrombi)\n", + " \n", + " \n", + " Mixture of fibrin, red blood cells, platelets partly or completely occluding vascular lumen within the interior space of cortical radial arteries (interlobular arteries) of the kidney.\n", + " definition of HP:0033950 (Cortical radial artery intraluminal thrombi)\n", + " \n", + " \n", + " #Intraluminal thrombi within interlobular arterial lumen\n", + " definition of HP:0033950 (Cortical radial artery intraluminal thrombi)\n", + " \n", + " \n", + " Splayed toes\n", + " definition of HP:0011307 (Splayed toes)\n", + " \n", + " \n", + " Divergence of digits along the anteroposterior axis (in the plane of the sole).\n", + " definition of HP:0011307 (Splayed toes)\n", + " \n", + " \n", + " #Splayed toes\n", + " definition of HP:0011307 (Splayed toes)\n", + " \n", + " \n", + " Testicular lipomatosis\n", + " definition of HP:0025476 (Testicular lipomatosis)\n", + " \n", + " \n", + " Multiple foci of adipocytes within the testicular interstitium, usually presenting as multiple bilateral ill-defined hyperechoic intratesticular lesions of different sizes but generally with maximum diameter of 4 mm.\n", + " definition of HP:0025476 (Testicular lipomatosis)\n", + " \n", + " \n", + " Nasogastric tube feeding\n", + " definition of HP:0040288 (Nasogastric tube feeding)\n", + " \n", + " \n", + " The condition of inability to eat normally treated by placement of a thin tube through the nose into the stomach that is then used to carry food.\n", + " definition of HP:0040288 (Nasogastric tube feeding)\n", + " \n", + " \n", + " Abnormal respiratory system physiology\n", + " definition of HP:0002795 (Abnormal respiratory system physiology)\n", + " \n", + " \n", + " #Abnormal respiration #Functional respiratory abnormality\n", + " definition of HP:0002795 (Abnormal respiratory system physiology)\n", + " \n", + " \n", + " Abnormal circulating tyrosine concentration\n", + " definition of HP:0010917 (Abnormal circulating tyrosine concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of tyrosine in the blood circulation.\n", + " definition of HP:0010917 (Abnormal circulating tyrosine concentration)\n", + " \n", + " \n", + " Chronic metabolic acidosis\n", + " definition of HP:0001996 (Chronic metabolic acidosis)\n", + " \n", + " \n", + " Longstanding metabolic acidosis.\n", + " definition of HP:0001996 (Chronic metabolic acidosis)\n", + " \n", + " \n", + " Premature glabellar skin wrinkling\n", + " definition of HP:6000744 (Premature glabellar skin wrinkling)\n", + " \n", + " \n", + " The presence in the skin of the glabellar region of an increased degree of wrinkling (irregular folds and indentations) of the skin as compared with age-related norms.\n", + " definition of HP:6000744 (Premature glabellar skin wrinkling)\n", + " \n", + " \n", + " Abnormal circulating phospholipid concentration\n", + " definition of HP:0040176 (Abnormal circulating phospholipid concentration)\n", + " \n", + " \n", + " Any deviation from the normal concentration of a phospholipid in the blood circulation.\n", + " definition of HP:0040176 (Abnormal circulating phospholipid concentration)\n", + " \n", + " \n", + " #Abnormal level of phospholipids\n", + " definition of HP:0040176 (Abnormal circulating phospholipid concentration)\n", + " \n", + " \n", + " Dysmetric saccades\n", + " definition of HP:0000641 (Dysmetric saccades)\n", + " \n", + " \n", + " The controller signal for saccadic eye movements has two components: the pulse that moves the eye rapidly from one point to the next, and the step that holds the eye in the new position. When both the pulse and the step are not the correct size, a dysmetric refixation eye movement results.\n", + " definition of HP:0000641 (Dysmetric saccades)\n", + " \n", + " \n", + " #Dysmetric eye movements #Dysmetric eye saccades #Uncoordinated eye movement\n", + " definition of HP:0000641 (Dysmetric saccades)\n", + " \n", + " \n", + " Fractured sternoclavicular joint\n", + " definition of HP:0041152 (Fractured sternoclavicular joint)\n", + " \n", + " \n", + " A partial or complete breakage of the sternoclavicular joint.\n", + " definition of HP:0041152 (Fractured sternoclavicular joint)\n", + " \n", + " \n", + " #bone sternoclavicular joint\n", + " definition of HP:0041152 (Fractured sternoclavicular joint)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the optic nerve\n", + " definition of HP:0008058 (Aplasia/Hypoplasia of the optic nerve)\n", + " \n", + " \n", + " #Absent/small optic nerve #Absent/underdeveloped optic nerve\n", + " definition of HP:0008058 (Aplasia/Hypoplasia of the optic nerve)\n", + " \n", + " \n", + " Tragal bridge of crus of helix\n", + " definition of HP:0011258 (Tragal bridge of crus of helix)\n", + " \n", + " \n", + " The anterior origin of the crus encompasses the superior margin of the tragus, the crus overrides the upper portion of the conchal cavum and ends at the antihelix.\n", + " definition of HP:0011258 (Tragal bridge of crus of helix)\n", + " \n", + " \n", + " #Helix, crus, tragal bridge\n", + " definition of HP:0011258 (Tragal bridge of crus of helix)\n", + " \n", + " \n", + " Mitochondrial swelling\n", + " definition of HP:0030774 (Mitochondrial swelling)\n", + " \n", + " \n", + " The mitochondrial matrix refers to the substance occupying the space enclosed by the inner membrane of a mitochondrion, which contains enzymes, DNA, granules, and inclusions of protein crystals, glycogen, and lipid. Mitochondrial swelling refers to an increase in size of the mitochondrial matrix. This phenomenon is thought to be related to a permeabilized inner membrane that originates a large swelling in the mitochondrial matrix. Mitochondrial swelling may distend the outer membrane until it ruptures.\n", + " definition of HP:0030774 (Mitochondrial swelling)\n", + " \n", + " \n", + " Ivory epiphyses of the proximal phalanges of the hand\n", + " definition of HP:0010274 (Ivory epiphyses of the proximal phalanges of the hand)\n", + " \n", + " \n", + " Epiphyses of the proximal phalanges of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs.\n", + " definition of HP:0010274 (Ivory epiphyses of the proximal phalanges of the hand)\n", + " \n", + " \n", + " #Increased bone density of end part of the innermost hand bones\n", + " definition of HP:0010274 (Ivory epiphyses of the proximal phalanges of the hand)\n", + " \n", + " \n", + " Abnormality of prenatal development or birth\n", + " definition of HP:0001197 (Abnormality of prenatal development or birth)\n", + " \n", + " \n", + " An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities.\n", + " definition of HP:0001197 (Abnormality of prenatal development or birth)\n", + " \n", + " \n", + " #Abnormality of prenatal development or birth\n", + " definition of HP:0001197 (Abnormality of prenatal development or birth)\n", + " \n", + " \n", + " Symphalangism affecting the phalanges of the 4th toe\n", + " definition of HP:0010377 (Symphalangism affecting the phalanges of the 4th toe)\n", + " \n", + " \n", + " #Fused bones of 4th toe\n", + " definition of HP:0010377 (Symphalangism affecting the phalanges of the 4th toe)\n", + " \n", + " \n", + " Pulmonary granulomatosis\n", + " definition of HP:0030250 (Pulmonary granulomatosis)\n", + " \n", + " \n", + " The presence of multiple granulomata (small nodular inflammatory lesions containing grouped mononuclear phagocytes) in the lung.\n", + " definition of HP:0030250 (Pulmonary granulomatosis)\n", + " \n", + " \n", + " Progressive hyperpigmentation\n", + " definition of HP:0007505 (Progressive hyperpigmentation)\n", + " \n", + " \n", + " Fragmentation of the epiphysis of the middle phalanx of the 4th toe\n", + " definition of HP:0100184 (Fragmentation of the epiphysis of the middle phalanx of the 4th toe)\n", + " \n", + " \n", + " #Fragmentation of the end part of the middle bone of the 4th toe\n", + " definition of HP:0100184 (Fragmentation of the epiphysis of the middle phalanx of the 4th toe)\n", + " \n", + " \n", + " Pyridoxine-responsive sideroblastic anemia\n", + " definition of HP:0005522 (Pyridoxine-responsive sideroblastic anemia)\n", + " \n", + " \n", + " A type of sideroblastic anemia that is alleviated by pyridoxine (vitamin B-6) treatment.\n", + " definition of HP:0005522 (Pyridoxine-responsive sideroblastic anemia)\n", + " \n", + " \n", + " #Pyridoxine-responsive sideroblastic anaemia\n", + " definition of HP:0005522 (Pyridoxine-responsive sideroblastic anemia)\n", + " \n", + " \n", + " Irregular radial epiphyses\n", + " definition of HP:0004004 (Irregular radial epiphyses)\n", + " \n", + " \n", + " Reduced mevalonate kinase activity\n", + " definition of HP:0033168 (Reduced mevalonate kinase activity)\n", + " \n", + " \n", + " Abnormally reduced activity of mevalonate kinase, which is a key enzyme in the mevalonate biosynthetic pathway that leads to the synthesis of both cholesterol and nonsterol isoprenoids.\n", + " definition of HP:0033168 (Reduced mevalonate kinase activity)\n", + " \n", + " \n", + " Auricular pit\n", + " definition of HP:0030025 (Auricular pit)\n", + " \n", + " \n", + " Small indentation in the lower part of the ascending helix, concha, or in the crus helix.\n", + " definition of HP:0030025 (Auricular pit)\n", + " \n", + " \n", + " Frog-leg posture\n", + " definition of HP:0031139 (Frog-leg posture)\n", + " \n", + " \n", + " A type of rest posture in an infant that indicated a generalized reduction in muscle tone. The hips are flexed and the legs are abducted to an extent that causes the lateral thigh to rest upon the supporting surface. This posture is said to resemble the legs of a frog.\n", + " definition of HP:0031139 (Frog-leg posture)\n", + " \n", + " \n", + " Resistance to trivial environmental changes\n", + " definition of HP:5200052 (Resistance to trivial environmental changes)\n", + " \n", + " \n", + " Distress in response to minor changes in one's environmental expectations.\n", + " definition of HP:5200052 (Resistance to trivial environmental changes)\n", + " \n", + " \n", + " Pleural mass\n", + " definition of HP:0033824 (Pleural mass)\n", + " \n", + " \n", + " A mass in the pleura seen on chest imaging is defined as an opacity greater than 3 cm in diameter (without regard to contour, border, or density characteristics).\n", + " definition of HP:0033824 (Pleural mass)\n", + " \n", + " \n", + " Abnormality of skin pigmentation\n", + " definition of HP:0001000 (Abnormality of skin pigmentation)\n", + " \n", + " \n", + " An abnormality of the pigmentation of the skin.\n", + " definition of HP:0001000 (Abnormality of skin pigmentation)\n", + " \n", + " \n", + " #Abnormal pigmentation #Abnormal skin color #Abnormal skin colour #Abnormal skin pigmentation #Abnormality of pigmentation #Abnormality of skin pigmentation #Pigmentary changes #Pigmentary skin changes #Pigmentation anomaly\n", + " definition of HP:0001000 (Abnormality of skin pigmentation)\n", + " \n", + " \n", + " Oculomotor apraxia\n", + " definition of HP:0000657 (Oculomotor apraxia)\n", + " \n", + " \n", + " Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancelation of the vestibulo-ocular reflex.\n", + " definition of HP:0000657 (Oculomotor apraxia)\n", + " \n", + " \n", + " #Ocular motor apraxia\n", + " definition of HP:0000657 (Oculomotor apraxia)\n", + " \n", + " \n", + " Focal impaired awareness behavior arrest seizure\n", + " definition of HP:0032790 (Focal impaired awareness behavior arrest seizure)\n", + " \n", + " \n", + " A focal behavior arrest seizure characterized by impaired awareness at some point during the seizure.\n", + " definition of HP:0032790 (Focal impaired awareness behavior arrest seizure)\n", + " \n", + " \n", + " #Focal impaired awareness behaviour arrest seizure\n", + " definition of HP:0032790 (Focal impaired awareness behavior arrest seizure)\n", + " \n", + " \n", + " Femoral retroversion\n", + " definition of HP:0008796 (Femoral retroversion)\n", + " \n", + " \n", + " An abnormal backward rotation of the hip relative to the knee such that the hips are externally rotated with the foot pointed outward instead of straight ahead (out-toeing).\n", + " definition of HP:0008796 (Femoral retroversion)\n", + " \n", + " \n", + " #Decreased femoral torsion #Externally rotated hips\n", + " definition of HP:0008796 (Femoral retroversion)\n", + " \n", + " \n", + " Superior oblique muscle underaction\n", + " definition of HP:0025595 (Superior oblique muscle underaction)\n", + " \n", + " \n", + " Reduced ocular movement of the superior oblique muscle which improves on testing ductions, typically associated with neurogenic palsy.\n", + " definition of HP:0025595 (Superior oblique muscle underaction)\n", + " \n", + " \n", + " #Under-depression in adduction\n", + " definition of HP:0025595 (Superior oblique muscle underaction)\n", + " \n", + " \n", + " Epiglottic enlargement\n", + " definition of HP:6000289 (Epiglottic enlargement)\n", + " \n", + " \n", + " Anlarged and edematous epiglottis. This sign can be observed on a lateral radiograph of the neck and it suggests a diagnosis of acute infectious epiglottitis.\n", + " definition of HP:6000289 (Epiglottic enlargement)\n", + " \n", + " \n", + " #Epiglottis thumb sign #Swollen epiglottis\n", + " definition of HP:6000289 (Epiglottic enlargement)\n", + " \n", + " \n", + " Reading-induced seizure\n", + " definition of HP:0020212 (Reading-induced seizure)\n", + " \n", + " \n", + " A seizure precipitated by reading.\n", + " definition of HP:0020212 (Reading-induced seizure)\n", + " \n", + " \n", + " Transphyseal fracture of the distal humerus\n", + " definition of HP:0033262 (Transphyseal fracture of the distal humerus)\n", + " \n", + " \n", + " A fracture through the distal humeral physis that separates the entire distal humeral epiphysis from the metaphysis.\n", + " definition of HP:0033262 (Transphyseal fracture of the distal humerus)\n", + " \n", + " \n", + " #Transphyseal distal humerus fracture\n", + " definition of HP:0033262 (Transphyseal fracture of the distal humerus)\n", + " \n", + " \n", + " History of recent trauma to external ear canal\n", + " definition of HP:6000774 (History of recent trauma to external ear canal)\n", + " \n", + " \n", + " Medical history of trauma to the external ear canal, including cotton-swab use, in recent weeks.\n", + " definition of HP:6000774 (History of recent trauma to external ear canal)\n", + " \n", + " \n", + " Corneolenticular adhesion\n", + " definition of HP:0011485 (Corneolenticular adhesion)\n", + " \n", + " \n", + " Developmental abnormality in which the lens and cornea are not separated.\n", + " definition of HP:0011485 (Corneolenticular adhesion)\n", + " \n", + " \n", + " Obtuse angle of mandible\n", + " definition of HP:0005446 (Obtuse angle of mandible)\n", + " \n", + " \n", + " Abnormally flat (obtuse) angle of the mandible. The angle of the mandibular, located at the junction between the body and the ramus of the mandible, is normally close to being a right angle. This terms describes an abnormal increase of this angle such that the mandible appears flatter than normal.\n", + " definition of HP:0005446 (Obtuse angle of mandible)\n", + " \n", + " \n", + " #High mandibular plane angle #Steep mandibular plane angle\n", + " definition of HP:0005446 (Obtuse angle of mandible)\n", + " \n", + " \n", + " Lumbosacral hemangioma\n", + " definition of HP:0410275 (Lumbosacral hemangioma)\n", + " \n", + " \n", + " A spinal cord hemangioma located in the lumbosacral spine region.\n", + " definition of HP:0410275 (Lumbosacral hemangioma)\n", + " \n", + " \n", + " #Lumbar/sacral hemangioma\n", + " definition of HP:0410275 (Lumbosacral hemangioma)\n", + " \n", + " \n", + " Drusen\n", + " definition of HP:0011510 (Drusen)\n", + " \n", + " \n", + " Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye.\n", + " definition of HP:0011510 (Drusen)\n", + " \n", + " \n", + " Abnormality of blood and blood-forming tissues\n", + " definition of HP:0001871 (Abnormality of blood and blood-forming tissues)\n", + " \n", + " \n", + " An abnormality of the hematopoietic system.\n", + " definition of HP:0001871 (Abnormality of blood and blood-forming tissues)\n", + " \n", + " \n", + " #Abnormality of blood and blood-forming tissues #Abnormality of the haematopoietic system #Abnormality of the hematopoietic system #Haematological abnormality #Hematological abnormality\n", + " definition of HP:0001871 (Abnormality of blood and blood-forming tissues)\n", + " \n", + " \n", + " Cholesteatoma\n", + " definition of HP:0009797 (Cholesteatoma)\n", + " \n", + " \n", + " Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process. In cholesteatoma, a skin cyst grows into the middle ear and mastoid. The cyst is not cancerous but can erode tissue and cause destruction of the ear.\n", + " definition of HP:0009797 (Cholesteatoma)\n", + " \n", + " \n", + " Abnormal platelet granules\n", + " definition of HP:0011883 (Abnormal platelet granules)\n", + " \n", + " \n", + " An anomaly of alpha or dense granules or platelet lysosomes.\n", + " definition of HP:0011883 (Abnormal platelet granules)\n", + " \n", + " \n", + " Reduced fecal osmolality\n", + " definition of HP:0032487 (Reduced fecal osmolality)\n", + " \n", + " \n", + " Abnormally low concentration of feces as assessed by the total number of solute particles per kilogram.\n", + " definition of HP:0032487 (Reduced fecal osmolality)\n", + " \n", + " \n", + " #Reduced faecal osmolality\n", + " definition of HP:0032487 (Reduced fecal osmolality)\n", + " \n", + " \n", + " Flattened epiphysis\n", + " definition of HP:0003071 (Flattened epiphysis)\n", + " \n", + " \n", + " Abnormal flatness (decreased height) of epiphyses.\n", + " definition of HP:0003071 (Flattened epiphysis)\n", + " \n", + " \n", + " #Flat end part of bone #Flat epiphyses\n", + " definition of HP:0003071 (Flattened epiphysis)\n", + " \n", + " \n", + " Reduced acetylglucosamine-6-sulfate sulfatase activity in cultured fibroblasts\n", + " definition of HP:4000198 (Reduced acetylglucosamine-6-sulfate sulfatase activity in cultured fibroblasts)\n", + " \n", + " \n", + " Concentration or activity of N-acetylglucosamine-6-sulfatase (EC 3.1.6.14) as measured in cultured fibroblasts is below the limits of normal. N-acetylglucosamine-6-sulfatase hydrolyzes heparan sulfate and keratan sulfate.\n", + " definition of HP:4000198 (Reduced acetylglucosamine-6-sulfate sulfatase activity in cultured fibroblasts)\n", + " \n", + " \n", + " Uric acid crystalluria\n", + " definition of HP:0032964 (Uric acid crystalluria)\n", + " \n", + " \n", + " The presence of uric acid crystals in the urine.\n", + " definition of HP:0032964 (Uric acid crystalluria)\n", + " \n", + " \n", + " Abnormality of binocular vision\n", + " definition of HP:0011514 (Abnormality of binocular vision)\n", + " \n", + " \n", + " An abnormality of binocular vision, that is of the ability to synthesize the visual inputs from both eyes to a single image with perception of depth.\n", + " definition of HP:0011514 (Abnormality of binocular vision)\n", + " \n", + " \n", + " Widely-spaced maxillary central incisors\n", + " definition of HP:0001566 (Widely-spaced maxillary central incisors)\n", + " \n", + " \n", + " Increased distance between the maxillary central permanent incisor tooth.\n", + " definition of HP:0001566 (Widely-spaced maxillary central incisors)\n", + " \n", + " \n", + " #Diastasis of the central incisors #Gap between upper front teeth #Separated superior central incisors #Wide gap between upper central incisors #Wide upper central incisors #Widely spaced upper incisors\n", + " definition of HP:0001566 (Widely-spaced maxillary central incisors)\n", + " \n", + " \n", + " Central cyanosis\n", + " definition of HP:0034032 (Central cyanosis)\n", + " \n", + " \n", + " Generalized bluish discoloration of the body and the visible mucous membranes, which occurs due to inadequate oxygenation secondary to conditions that lead to an increase in deoxygenated hemoglobin or presence of abnormal hemoglobin.\n", + " definition of HP:0034032 (Central cyanosis)\n", + " \n", + " \n", + " Glomerular capillary wall duplication without cellular interposition\n", + " definition of HP:0033322 (Glomerular capillary wall duplication without cellular interposition)\n", + " \n", + " \n", + " Double contouring of the original glomerular basement membrane (GBM)/additional layer(s) of overlying basement membrane matrix, with or without endocapillary hypercellularity and no evidence of interposed migrated cells (mesangial, endothelial, monocytes) between the layers of original GBM and de novo GBM.\n", + " definition of HP:0033322 (Glomerular capillary wall duplication without cellular interposition)\n", + " \n", + " \n", + " Abnormal timing of dark-adapted dim flash electroretinogram\n", + " definition of HP:0030475 (Abnormal timing of dark-adapted dim flash electroretinogram)\n", + " \n", + " \n", + " Molarization of premolar\n", + " definition of HP:0011093 (Molarization of premolar)\n", + " \n", + " \n", + " Increased size and molar morphology of premolar tooth.\n", + " definition of HP:0011093 (Molarization of premolar)\n", + " \n", + " \n", + " #Molar shape of bicuspid #Molar shape of premolar #Molarization of bicuspid\n", + " definition of HP:0011093 (Molarization of premolar)\n", + " \n", + " \n", + " Intrahepatic portal vein sclerosis\n", + " definition of HP:0031015 (Intrahepatic portal vein sclerosis)\n", + " \n", + " \n", + " Sclerosis of the intrahepatic portal veins of the liver and generally accompanied by non-cirrhotic portal hypertension, features of which may include splenomegaly and varices.\n", + " definition of HP:0031015 (Intrahepatic portal vein sclerosis)\n", + " \n", + " \n", + " Positive peritoneal fluid bacterial culture\n", + " definition of HP:6000954 (Positive peritoneal fluid bacterial culture)\n", + " \n", + " \n", + " Growth of bacteria in a culture dervied from ascites fluid.\n", + " definition of HP:6000954 (Positive peritoneal fluid bacterial culture)\n", + " \n", + " \n", + " Intercrural pterygium\n", + " definition of HP:0009757 (Intercrural pterygium)\n", + " \n", + " \n", + " A pterygium (or pterygia) in the intercrural (groin) region.\n", + " definition of HP:0009757 (Intercrural pterygium)\n", + " \n", + " \n", + " Positive chlamydia trachomatis urine nucleic acid test\n", + " definition of HP:6000731 (Positive chlamydia trachomatis urine nucleic acid test)\n", + " \n", + " \n", + " Detection of Chlamydia trachomatis nucleic acid in the urine by a method such as polymerase chain reaction.\n", + " definition of HP:6000731 (Positive chlamydia trachomatis urine nucleic acid test)\n", + " \n", + " \n", + " Absent epiphysis of the distal phalanx of the 3rd finger\n", + " definition of HP:0009335 (Absent epiphysis of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Absence of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger.\n", + " definition of HP:0009335 (Absent epiphysis of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " #Absent end part of the outermost bone of the middle finger\n", + " definition of HP:0009335 (Absent epiphysis of the distal phalanx of the 3rd finger)\n", + " \n", + " \n", + " Anterior atlanto-occipital dislocation\n", + " definition of HP:0005678 (Anterior atlanto-occipital dislocation)\n", + " \n", + " \n", + " Increased serum pyruvate\n", + " definition of HP:0003542 (Increased serum pyruvate)\n", + " \n", + " \n", + " An increased concentration of pyruvate in the blood.\n", + " definition of HP:0003542 (Increased serum pyruvate)\n", + " \n", + " \n", + " #Increased serum pyruvic acid\n", + " definition of HP:0003542 (Increased serum pyruvate)\n", + " \n", + " \n", + " Hypoxemia\n", + " definition of HP:0012418 (Hypoxemia)\n", + " \n", + " \n", + " An abnormally low level of blood oxygen.\n", + " definition of HP:0012418 (Hypoxemia)\n", + " \n", + " \n", + " #Low blood oxygen level\n", + " definition of HP:0012418 (Hypoxemia)\n", + " \n", + " \n", + " Joint hemorrhage\n", + " definition of HP:0005261 (Joint hemorrhage)\n", + " \n", + " \n", + " Hemorrhage occurring within a joint.\n", + " definition of HP:0005261 (Joint hemorrhage)\n", + " \n", + " \n", + " #Bleeding within a joint #Hemarthroses #Hemarthrosis #Joint hemorrhage #Spontaneous joint haemorrhage #Spontaneous joint hemorrhage\n", + " definition of HP:0005261 (Joint hemorrhage)\n", + " \n", + " \n", + " Chylolymphatic mesenteric cyst\n", + " definition of HP:0030452 (Chylolymphatic mesenteric cyst)\n", + " \n", + " \n", + " A type of mesenteric cyst that is lined with a thin endothelium or mesothelium and filled with chylous and lymphatic fluid.\n", + " definition of HP:0030452 (Chylolymphatic mesenteric cyst)\n", + " \n", + " \n", + " Anti-3-hydroxy- 3-methylglutaryl-coA reductase antibody positivity\n", + " definition of HP:0033708 (Anti-3-hydroxy- 3-methylglutaryl-coA reductase antibody positivity)\n", + " \n", + " \n", + " #Anti-3-hydroxy- 3-methylglutaryl-coA reductase antibodies #Anti-HMGCR autoantibodies\n", + " definition of HP:0033708 (Anti-3-hydroxy- 3-methylglutaryl-coA reductase antibody positivity)\n", + " \n", + " \n", + " Low posterior hairline\n", + " definition of HP:0002162 (Low posterior hairline)\n", + " \n", + " \n", + " Hair on the neck extends more inferiorly than usual.\n", + " definition of HP:0002162 (Low posterior hairline)\n", + " \n", + " \n", + " #Low hairline at back of neck #Low posterior hair line\n", + " definition of HP:0002162 (Low posterior hairline)\n", + " \n", + " \n", + " Ventouse delivery\n", + " definition of HP:0011412 (Ventouse delivery)\n", + " \n", + " \n", + " Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labor has not progressed adequately.\n", + " definition of HP:0011412 (Ventouse delivery)\n", + " \n", + " \n", + " #Vacuum extraction #Vacuum-assisted vaginal delivery\n", + " definition of HP:0011412 (Ventouse delivery)\n", + " \n", + " \n", + " Increased blood urea nitrogen\n", + " definition of HP:0003138 (Increased blood urea nitrogen)\n", + " \n", + " \n", + " An increased amount of nitrogen in the form of urea in the blood.\n", + " definition of HP:0003138 (Increased blood urea nitrogen)\n", + " \n", + " \n", + " #Increased blood urea nitrogen #Increased BUN\n", + " definition of HP:0003138 (Increased blood urea nitrogen)\n", + " \n", + " \n", + " Abnormal vena cava morphology\n", + " definition of HP:0005345 (Abnormal vena cava morphology)\n", + " \n", + " \n", + " An abnormality of the structure of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava.\n", + " definition of HP:0005345 (Abnormal vena cava morphology)\n", + " \n", + " \n", + " Aplasia/Hypoplasia of the capital femoral epiphysis\n", + " definition of HP:0005003 (Aplasia/Hypoplasia of the capital femoral epiphysis)\n", + " \n", + " \n", + " Absence or underdevelopment of the proximal epiphysis of the femur.\n", + " definition of HP:0005003 (Aplasia/Hypoplasia of the capital femoral epiphysis)\n", + " \n", + " \n", + " #Absent/small end part of innermost thighbone #Absent/underdeveloped end part of innermost thighbone\n", + " definition of HP:0005003 (Aplasia/Hypoplasia of the capital femoral epiphysis)\n", + " \n", + " \n", + " Denervation of the diaphragm\n", + " definition of HP:0009109 (Denervation of the diaphragm)\n", + " \n", + " \n", + " Interruption of the innervation of the diaphragm.\n", + " definition of HP:0009109 (Denervation of the diaphragm)\n", + " \n", + " \n", + " Recurrent streptococcus pneumoniae infections\n", + " definition of HP:0005366 (Recurrent streptococcus pneumoniae infections)\n", + " \n", + " \n", + " Increased susceptibility to streptococcus pneumoniae infections as manifested by a history of recurrent infections by streptococcus pneumoniae.\n", + " definition of HP:0005366 (Recurrent streptococcus pneumoniae infections)\n", + " \n", + " \n", + " Cone-shaped epiphysis of the distal phalanx of the 2nd finger\n", + " definition of HP:0009504 (Cone-shaped epiphysis of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " A cone-shaped appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx.\n", + " definition of HP:0009504 (Cone-shaped epiphysis of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " #Cone-shaped end part of the outermost bone of the index finger\n", + " definition of HP:0009504 (Cone-shaped epiphysis of the distal phalanx of the 2nd finger)\n", + " \n", + " \n", + " Reduced sterol 27-hydroxylase activity\n", + " definition of HP:0034689 (Reduced sterol 27-hydroxylase activity)\n", + " \n", + " \n", + " Diminished activity of the enzyme sterol 27-hydroxylase, which participates in the degradation of cholesterol to bile acid. Sterol 27-hydroxylase catalyzes the first step in the normal oxidation of the steroid side chain, converting cholesterol, as well as different 7a-hydroxylated cholesterol metabolites, to 27-oxygenated steroids.\n", + " definition of HP:0034689 (Reduced sterol 27-hydroxylase activity)\n", + " \n", + " \n", + " Supranuclear ophthalmoplegia\n", + " definition of HP:0000623 (Supranuclear ophthalmoplegia)\n", + " \n", + " \n", + " A vertical gaze palsy with inability to direct the gaze of the eyes downwards.\n", + " definition of HP:0000623 (Supranuclear ophthalmoplegia)\n", + " \n", + " \n", + " Retinal arteriolar constriction\n", + " definition of HP:0008043 (Retinal arteriolar constriction)\n", + " \n", + " \n", + " Decreased retinal arteriolar diameters, which may decrease blood flow and slow oxygen delivery to regions of the retina.\n", + " definition of HP:0008043 (Retinal arteriolar constriction)\n", + " \n", + " \n", + " #Constricted retinal arterioles #Narrow retinal arterioles #Retinal arteriolar narrowing\n", + " definition of HP:0008043 (Retinal arteriolar constriction)\n", + " \n", + " \n", + " Anisopoikilocytosis\n", + " definition of HP:0004823 (Anisopoikilocytosis)\n", + " \n", + " \n", + " A type of poikilocytosis characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes.\n", + " definition of HP:0004823 (Anisopoikilocytosis)\n", + " \n", + " \n", + " Increased amyloid beta 42 peptide CSF concentration\n", + " definition of HP:0025685 (Increased amyloid beta 42 peptide CSF concentration)\n", + " \n", + " \n", + " An elevation above the normal concentration of amyloid beta 42 peptide in the cerebrospinal fluid (CSF).\n", + " definition of HP:0025685 (Increased amyloid beta 42 peptide CSF concentration)\n", + " \n", + " \n", + " Glomerular endocapillary foam-cell hypercellularity\n", + " definition of HP:0033490 (Glomerular endocapillary foam-cell hypercellularity)\n", + " \n", + " \n", + " Presence of lipid-filled cells, often a macrophage, with a vacuolated appearance in the glomerulus often occupying the endocapillary space.\n", + " definition of HP:0033490 (Glomerular endocapillary foam-cell hypercellularity)\n", + " \n", + " \n", + " Decreased CSF histidine concentration\n", + " definition of HP:0500237 (Decreased CSF histidine concentration)\n", + " \n", + " \n", + " Abnormally decreased levels of histidine in cerebrospinal fluid.\n", + " definition of HP:0500237 (Decreased CSF histidine concentration)\n", + " \n", + " \n", + " #Low histidine levels in cerebrospinal fluid\n", + " definition of HP:0500237 (Decreased CSF histidine concentration)\n", + " \n", + " \n", + " Delayed ability to walk with support\n", + " definition of HP:0033257 (Delayed ability to walk with support)\n", + " \n", + " \n", + " A failure to achieve the ability to walk with support (cruise) at an appropriate developmental stage.\n", + " definition of HP:0033257 (Delayed ability to walk with support)\n", + " \n", + " \n", + " #Delayed ability to cruise\n", + " definition of HP:0033257 (Delayed ability to walk with support)\n", + " \n", + " \n", + " Thin myocardium compact layer\n", + " definition of HP:0031196 (Thin myocardium compact layer)\n", + " \n", + " \n", + " Reduced thickness of the outer, dense layer of the myocardium.\n", + " definition of HP:0031196 (Thin myocardium compact layer)\n", + " \n", + " \n", + " \n", + "\n", + "\n" + ] + } + ], + "source": [ + "from xml.etree.ElementTree import Element, SubElement, tostring, fromstring\n", + "from xml.dom import minidom\n", + "\n", + "translation_units = list()\n", + "\n", + "ct = 0\n", + "for hp in adapter.descendants(\"HP:0000001\", predicates=[IS_A]):\n", + " ct = ct + 1\n", + " label = adapter.label(hp)\n", + " definition = adapter.definition(hp)\n", + " alias_map = adapter.entity_alias_map(hp)\n", + " synonyms = [v for p, vl in alias_map.items() if 'oio:hasExactSynonym'==p for v in vl]\n", + " xml = generate_translation_units(hp, label, definition, synonyms)\n", + " translation_units.extend(xml)\n", + "\n", + "print(f\"CT: {ct}\")\n", + "\n", + "xliff = assemble_xliff_file(translation_units)\n", + "#print(xliff)\n", + "with open(\"hpo_test.xliff\", \"w\") as file:\n", + " # Write the string to the file\n", + " file.write(xliff)" + ] } ], "metadata": { @@ -289,7 +183394,7 @@ "name": "python", "nbconvert_exporter": "python", "pygments_lexer": "ipython3", - "version": "3.10.4" + "version": "3.12.4" } }, "nbformat": 4,